question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Regarding the variant found on chromosome 17 at position 31226562 in gene NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | GGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTGTCATTGAGATCAAATTATAGTTTTCATACAGTAGATTTATATTGTTGATGTTTTACTCATG... | GGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTGTCATTGAGATCAAATTATAGTTTTCATACAGTAGATTTATATTGTTGATGTTTTACTCATG... | pathogenic | 267,470 |
Gene mutation in NF1 (neurofibromin 1) at chromosome 17, position 31226589—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTGTCATTGAGATCAAATTATAGTTTTCATACAGTAGATTTATATTGTTGATGTTTTACTCATGTTTATGTCAGACTTAATTTATATTTGT... | ATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTGTCATTGAGATCAAATTATAGTTTTCATACAGTAGATTTATATTGTTGATGTTTTACTCATGTTTATGTCAGACTTAATTTATATTTGT... | pathogenic | 267,476 |
Determine whether the variant at chromosome 17, position 31226610, in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTGTCATTGAGATCAAATTATAGTTTTCATACAGTAGATTTATATTGTTGATGTTTTACTCATGTTTATGTCAGACTTAATTTATATTTGTAGAATCTACTGTTTCTGATGA... | GCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTGTCATTGAGATCAAATTATAGTTTTCATACAGTAGATTTATATTGTTGATGTTTTACTCATGTTTATGTCAGACTTAATTTATATTTGTAGAATCTACTGTTTCTGATGA... | pathogenic | 267,482 |
Does the variant on chromosome 17 at location 31226620 affecting gene NF1 (neurofibromin 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTGTCATTGAGATCAAATTATAGTTTTCATACAGTAGATTTATATTGTTGATGTTTTACTCATGTTTATGTCAGACTTAATTTATATTTGTAGAATCTACTGTTTCTGATGATTTAGAGAAT... | TGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTGTCATTGAGATCAAATTATAGTTTTCATACAGTAGATTTATATTGTTGATGTTTTACTCATGTTTATGTCAGACTTAATTTATATTTGTAGAATCTACTGTTTCTGATGATTTAGAGAAT... | pathogenic | 267,485 |
A mutation at chromosome position 31226661 on chromosome 17 in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTGTCATTGAGATCAAATTATAGTTTTCATACAGTAGATTTATATTGTTGATGTTTTACTCATGTTTATGTCAGACTTAATTTATATTTGTAGAATCTACTGTTTCTGATGATTTAGAGAATGGGAAACTGAAAGAAATTTTAAAGAATTAAGTAAACCTTGT... | GAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTGTCATTGAGATCAAATTATAGTTTTCATACAGTAGATTTATATTGTTGATGTTTTACTCATGTTTATGTCAGACTTAATTTATATTTGTAGAATCTACTGTTTCTGATGATTTAGAGAATGGGAAACTGAAAGAAATTTTAAAGAATTAAGTAAACCTTGT... | pathogenic | 267,491 |
Does the variant on chromosome 17 at location 31226701 affecting gene NF1 (neurofibromin 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | ATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTGTCATTGAGATCAAATTATAGTTTTCATACAGTAGATTTATATTGTTGATGTTTTACTCATGTTTATGTCAGACTTAATTTATATTTGTAGAATCTACTGTTTCTGATGATTTAGAGAATGGGAAACTGAAAGAAATTTTAAAGAATTAAGTAAACCTTGTTTGTTCTAATGGGTTTCTAGTGAATCTCCTTCAAGTTGGG... | ATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTGTCATTGAGATCAAATTATAGTTTTCATACAGTAGATTTATATTGTTGATGTTTTACTCATGTTTATGTCAGACTTAATTTATATTTGTAGAATCTACTGTTTCTGATGATTTAGAGAATGGGAAACTGAAAGAAATTTTAAAGAATTAAGTAAACCTTGTTTGTTCTAATGGGTTTCTAGTGAATCTCCTTCAAGTTGGG... | benign | 267,504 |
Is the variant located on chromosome 17 at position 31227216, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CCAGTCAAATGTCCATGGATCATGAAGAATTACTACGTACTCCTGGAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTT... | CCAGTCAAATGTCCATGGATCATGAAGAATTACTACGTACTCCTGGAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTT... | pathogenic | 267,511 |
Assess the variant on chromosome 17, position 31227233, impacting NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Neurofibromatosis,_type_1'] | GATCATGAAGAATTACTACGTACTCCTGGAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTA... | GATCATGAAGAATTACTACGTACTCCTGGAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTA... | pathogenic | 267,516 |
Evaluate this variant at chromosome 17, position 31227234, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATCATGAAGAATTACTACGTACTCCTGGAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAA... | ATCATGAAGAATTACTACGTACTCCTGGAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAA... | pathogenic | 267,517 |
Clinically, how would you classify the variant at chromosome 17, position 31227237, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATGAAGAATTACTACGTACTCCTGGAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATA... | ATGAAGAATTACTACGTACTCCTGGAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATA... | pathogenic | 267,518 |
Clinical classification of chromosome 17, position 31227257, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CCTGGAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCT... | CCTGGAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCT... | pathogenic | 267,523 |
Evaluate if the mutation on chromosome 17 at position 31227258 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | CTGGAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTA... | CTGGAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTA... | pathogenic | 267,524 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 31227259, gene NF1 (neurofibromin 1): what disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | TGGAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTAT... | TGGAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTAT... | pathogenic | 267,525 |
Considering the genetic mutation at chromosome 17, position 31227534, impacting NF1 (neurofibromin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTATATCTGATAATTATAATTATTATAAACCTCCACTCCATAAAAAACCCATTCATACCACAGAAGTATAGAATTCGTACCGGCTAACAAAGGTACAGATTTACAGGGATAAAAACAAAGTATTTTGCTTCATGTTAAAGATAAGTGTTTCTGTGATTTGTGTTTGTGTGTATAATTTCTTTTAAATATAAATCATATTTCAAGTGAAAATATCACATCATTACAGAAGAGTTTATTTTCCAAACCAAAACTTTTTTCATTCCTAATTTTTAATGCAAC... | TTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTATATCTGATAATTATAATTATTATAAACCTCCACTCCATAAAAAACCCATTCATACCACAGAAGTATAGAATTCGTACCGGCTAACAAAGGTACAGATTTACAGGGATAAAAACAAAGTATTTTGCTTCATGTTAAAGATAAGTGTTTCTGTGATTTGTGTTTGTGTGTATAATTTCTTTTAAATATAAATCATATTTCAAGTGAAAATATCACATCATTACAGAAGAGTTTATTTTCCAAACCAAAACTTTTTTCATTCCTAATTTTTAATGCAAC... | pathogenic | 267,551 |
Variant in NF1 (neurofibromin 1), chromosome 17, position 31227560—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Neurofibromatosis,_type_1'] | CTTGACACTTACAAGCTATATCTGATAATTATAATTATTATAAACCTCCACTCCATAAAAAACCCATTCATACCACAGAAGTATAGAATTCGTACCGGCTAACAAAGGTACAGATTTACAGGGATAAAAACAAAGTATTTTGCTTCATGTTAAAGATAAGTGTTTCTGTGATTTGTGTTTGTGTGTATAATTTCTTTTAAATATAAATCATATTTCAAGTGAAAATATCACATCATTACAGAAGAGTTTATTTTCCAAACCAAAACTTTTTTCATTCCTAATTTTTAATGCAACCTTGTTAAGGAAGAAACACCTAAGCA... | CTTGACACTTACAAGCTATATCTGATAATTATAATTATTATAAACCTCCACTCCATAAAAAACCCATTCATACCACAGAAGTATAGAATTCGTACCGGCTAACAAAGGTACAGATTTACAGGGATAAAAACAAAGTATTTTGCTTCATGTTAAAGATAAGTGTTTCTGTGATTTGTGTTTGTGTGTATAATTTCTTTTAAATATAAATCATATTTCAAGTGAAAATATCACATCATTACAGAAGAGTTTATTTTCCAAACCAAAACTTTTTTCATTCCTAATTTTTAATGCAACCTTGTTAAGGAAGAAACACCTAAGCA... | pathogenic | 267,564 |
A mutation at chromosome position 31227581 on chromosome 17 in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibroma', 'Neurofibromatosis,_type_1'] | CTGATAATTATAATTATTATAAACCTCCACTCCATAAAAAACCCATTCATACCACAGAAGTATAGAATTCGTACCGGCTAACAAAGGTACAGATTTACAGGGATAAAAACAAAGTATTTTGCTTCATGTTAAAGATAAGTGTTTCTGTGATTTGTGTTTGTGTGTATAATTTCTTTTAAATATAAATCATATTTCAAGTGAAAATATCACATCATTACAGAAGAGTTTATTTTCCAAACCAAAACTTTTTTCATTCCTAATTTTTAATGCAACCTTGTTAAGGAAGAAACACCTAAGCAGTATGATATTTACTAATGTCT... | CTGATAATTATAATTATTATAAACCTCCACTCCATAAAAAACCCATTCATACCACAGAAGTATAGAATTCGTACCGGCTAACAAAGGTACAGATTTACAGGGATAAAAACAAAGTATTTTGCTTCATGTTAAAGATAAGTGTTTCTGTGATTTGTGTTTGTGTGTATAATTTCTTTTAAATATAAATCATATTTCAAGTGAAAATATCACATCATTACAGAAGAGTTTATTTTCCAAACCAAAACTTTTTTCATTCCTAATTTTTAATGCAACCTTGTTAAGGAAGAAACACCTAAGCAGTATGATATTTACTAATGTCT... | pathogenic | 267,571 |
Variant in gene NF1 (neurofibromin 1), located at chromosome 17 position 31229061: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | TGGGAATAGCTATTTTATTCTGTGGACATTGTAGAGTCCAAGATAAGTACCTTTCCTGTGAGGTTAGTGAAAGGAAGTTTTTGGCTTTATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCAC... | TGGGAATAGCTATTTTATTCTGTGGACATTGTAGAGTCCAAGATAAGTACCTTTCCTGTGAGGTTAGTGAAAGGAAGTTTTTGGCTTTATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCAC... | pathogenic | 267,597 |
Variant on chromosome 17, at position 31229062, affecting NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | GGGAATAGCTATTTTATTCTGTGGACATTGTAGAGTCCAAGATAAGTACCTTTCCTGTGAGGTTAGTGAAAGGAAGTTTTTGGCTTTATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACC... | GGGAATAGCTATTTTATTCTGTGGACATTGTAGAGTCCAAGATAAGTACCTTTCCTGTGAGGTTAGTGAAAGGAAGTTTTTGGCTTTATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACC... | pathogenic | 267,598 |
Is the genetic variant on chromosome 17, position 31229067, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TAGCTATTTTATTCTGTGGACATTGTAGAGTCCAAGATAAGTACCTTTCCTGTGAGGTTAGTGAAAGGAAGTTTTTGGCTTTATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAA... | TAGCTATTTTATTCTGTGGACATTGTAGAGTCCAAGATAAGTACCTTTCCTGTGAGGTTAGTGAAAGGAAGTTTTTGGCTTTATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAA... | pathogenic | 267,600 |
Considering the genetic mutation at chromosome 17, position 31229095, impacting NF1 (neurofibromin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AGTCCAAGATAAGTACCTTTCCTGTGAGGTTAGTGAAAGGAAGTTTTTGGCTTTATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTG... | AGTCCAAGATAAGTACCTTTCCTGTGAGGTTAGTGAAAGGAAGTTTTTGGCTTTATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTG... | pathogenic | 267,606 |
Clinical classification of chromosome 17, position 31229156, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | GAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAG... | GAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAG... | pathogenic | 267,635 |
Is the chromosome 17, position 31229156 variant in NF1 (neurofibromin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Neurofibromatosis,_type_1'] | GAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAG... | GAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAG... | pathogenic | 267,636 |
Clinically, how would you classify the variant at chromosome 17, position 31229189, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | GGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTG... | GGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTG... | pathogenic | 267,651 |
Is the genetic mutation found on chromosome 17 at position 31229233, within the gene NF1 (neurofibromin 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | GCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGA... | GCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGA... | pathogenic | 267,661 |
Variant at chromosome position 31229279, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGG... | TCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGG... | pathogenic | 267,672 |
Clinically, how would you classify the variant at chromosome 17, position 31229288, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'NF1-related_disorder', 'Neurofibromatosis,_type_1', 'likely other unspecified diseases'] | AGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAA... | AGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAA... | pathogenic | 267,673 |
Gene NF1 (neurofibromin 1) variant at chromosome position 31229291 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAA... | GATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAA... | pathogenic | 267,674 |
A mutation at chromosome position 31229294 on chromosome 17 in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | GGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGC... | GGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGC... | pathogenic | 267,675 |
Variant chromosome 17, position 31229341, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGT... | TATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGT... | pathogenic | 267,688 |
A genetic variant at chromosome 17, position 31229387, affecting gene NF1 (neurofibromin 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGT... | TTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGT... | pathogenic | 267,698 |
Does the chromosome 17 mutation at position 31229387 within gene NF1 (neurofibromin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Neurofibromatosis,_type_1'] | TTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGT... | TTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGT... | pathogenic | 267,699 |
Considering the variant on chromosome 17, location 31229423, involving gene NF1 (neurofibromin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGTACTTCACTTTGATAATCTTTCAAGAGTCGCTCAGTA... | TAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGTACTTCACTTTGATAATCTTTCAAGAGTCGCTCAGTA... | pathogenic | 267,706 |
Chromosome 17, position 31229437, gene NF1 (neurofibromin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Neurofibromatosis,_type_1'] | AATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGTACTTCACTTTGATAATCTTTCAAGAGTCGCTCAGTAAAGTAAACATATAG... | AATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGTACTTCACTTTGATAATCTTTCAAGAGTCGCTCAGTAAAGTAAACATATAG... | pathogenic | 267,710 |
Does the variant impacting NF1 (neurofibromin 1) on chromosome 17, position 31229444, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGTACTTCACTTTGATAATCTTTCAAGAGTCGCTCAGTAAAGTAAACATATAGCTGTGTG... | GATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGTACTTCACTTTGATAATCTTTCAAGAGTCGCTCAGTAAAGTAAACATATAGCTGTGTG... | pathogenic | 267,713 |
Considering the genetic mutation at chromosome 17, position 31229444, impacting NF1 (neurofibromin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Neurofibromatosis,_type_1'] | GATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGTACTTCACTTTGATAATCTTTCAAGAGTCGCTCAGTAAAGTAAACATATAGCTGTGTG... | GATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGTACTTCACTTTGATAATCTTTCAAGAGTCGCTCAGTAAAGTAAACATATAGCTGTGTG... | pathogenic | 267,714 |
Located at chromosome 17 position 31229454, the variant affecting gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | TATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGTACTTCACTTTGATAATCTTTCAAGAGTCGCTCAGTAAAGTAAACATATAGCTGTGTGAAGACTGATA... | TATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGTACTTCACTTTGATAATCTTTCAAGAGTCGCTCAGTAAAGTAAACATATAGCTGTGTGAAGACTGATA... | pathogenic | 267,716 |
Located at chromosome 17 position 31229459, the variant affecting gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Neurofibromatosis,_type_1'] | CAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGTACTTCACTTTGATAATCTTTCAAGAGTCGCTCAGTAAAGTAAACATATAGCTGTGTGAAGACTGATATTTAG... | CAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGTACTTCACTTTGATAATCTTTCAAGAGTCGCTCAGTAAAGTAAACATATAGCTGTGTGAAGACTGATATTTAG... | pathogenic | 267,718 |
Is chromosome 17, position 31229811, gene NF1 (neurofibromin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TGGTAGCTACTAGCTATGTGTGACTATTTAACTTAAATTTTAACATAATTAAAATTAAATAAAATTTAGTTCCTCAATCATATAGTAACCACATCGCAAGTACCAGTAGCCACATATGACAATTACTTACTCTATTGGACAGCAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCA... | TGGTAGCTACTAGCTATGTGTGACTATTTAACTTAAATTTTAACATAATTAAAATTAAATAAAATTTAGTTCCTCAATCATATAGTAACCACATCGCAAGTACCAGTAGCCACATATGACAATTACTTACTCTATTGGACAGCAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCA... | benign | 267,729 |
Is the genetic change at chromosome 17, position 31229822, within gene NF1 (neurofibromin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | AGCTATGTGTGACTATTTAACTTAAATTTTAACATAATTAAAATTAAATAAAATTTAGTTCCTCAATCATATAGTAACCACATCGCAAGTACCAGTAGCCACATATGACAATTACTTACTCTATTGGACAGCAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCATTTTGCTATTT... | AGCTATGTGTGACTATTTAACTTAAATTTTAACATAATTAAAATTAAATAAAATTTAGTTCCTCAATCATATAGTAACCACATCGCAAGTACCAGTAGCCACATATGACAATTACTTACTCTATTGGACAGCAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCATTTTGCTATTT... | pathogenic | 267,732 |
The chromosome 17, position 31229852 genetic variant in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AACATAATTAAAATTAAATAAAATTTAGTTCCTCAATCATATAGTAACCACATCGCAAGTACCAGTAGCCACATATGACAATTACTTACTCTATTGGACAGCAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCATTTTGCTATTTTGTTAGGTATTCTAATTAAGGAATGTCTTA... | AACATAATTAAAATTAAATAAAATTTAGTTCCTCAATCATATAGTAACCACATCGCAAGTACCAGTAGCCACATATGACAATTACTTACTCTATTGGACAGCAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCATTTTGCTATTTTGTTAGGTATTCTAATTAAGGAATGTCTTA... | pathogenic | 267,738 |
Does the variant on chromosome 17 at location 31229871 affecting gene NF1 (neurofibromin 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Neurofibromatosis,_type_1'] | AAAATTTAGTTCCTCAATCATATAGTAACCACATCGCAAGTACCAGTAGCCACATATGACAATTACTTACTCTATTGGACAGCAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCATTTTGCTATTTTGTTAGGTATTCTAATTAAGGAATGTCTTAGGCAGTAGATTGATCCCAT... | AAAATTTAGTTCCTCAATCATATAGTAACCACATCGCAAGTACCAGTAGCCACATATGACAATTACTTACTCTATTGGACAGCAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCATTTTGCTATTTTGTTAGGTATTCTAATTAAGGAATGTCTTAGGCAGTAGATTGATCCCAT... | pathogenic | 267,743 |
Gene NF1 (neurofibromin 1) variant at chromosome position 31229888 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TCATATAGTAACCACATCGCAAGTACCAGTAGCCACATATGACAATTACTTACTCTATTGGACAGCAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCATTTTGCTATTTTGTTAGGTATTCTAATTAAGGAATGTCTTAGGCAGTAGATTGATCCCATAGAGTAAATGAAATTTT... | TCATATAGTAACCACATCGCAAGTACCAGTAGCCACATATGACAATTACTTACTCTATTGGACAGCAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCATTTTGCTATTTTGTTAGGTATTCTAATTAAGGAATGTCTTAGGCAGTAGATTGATCCCATAGAGTAAATGAAATTTT... | pathogenic | 267,746 |
Is the genetic variant on chromosome 17, position 31229933, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia'] | TTACTTACTCTATTGGACAGCAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCATTTTGCTATTTTGTTAGGTATTCTAATTAAGGAATGTCTTAGGCAGTAGATTGATCCCATAGAGTAAATGAAATTTTAAAATGTGGACAGTTCATTCAACTATTACTATTGACTATATTATC... | TTACTTACTCTATTGGACAGCAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCATTTTGCTATTTTGTTAGGTATTCTAATTAAGGAATGTCTTAGGCAGTAGATTGATCCCATAGAGTAAATGAAATTTTAAAATGTGGACAGTTCATTCAACTATTACTATTGACTATATTATC... | pathogenic | 267,752 |
Regarding the variant at chromosome 17 and position 31229953, affecting gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cafe-au-lait_spot', 'Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | CAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCATTTTGCTATTTTGTTAGGTATTCTAATTAAGGAATGTCTTAGGCAGTAGATTGATCCCATAGAGTAAATGAAATTTTAAAATGTGGACAGTTCATTCAACTATTACTATTGACTATATTATCTGTTACTTTGGAAATTAATG... | CAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCATTTTGCTATTTTGTTAGGTATTCTAATTAAGGAATGTCTTAGGCAGTAGATTGATCCCATAGAGTAAATGAAATTTTAAAATGTGGACAGTTCATTCAACTATTACTATTGACTATATTATCTGTTACTTTGGAAATTAATG... | pathogenic | 267,754 |
Chromosome 17, position 31229953, gene NF1 (neurofibromin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | CAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCATTTTGCTATTTTGTTAGGTATTCTAATTAAGGAATGTCTTAGGCAGTAGATTGATCCCATAGAGTAAATGAAATTTTAAAATGTGGACAGTTCATTCAACTATTACTATTGACTATATTATCTGTTACTTTGGAAATTAATG... | CAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCATTTTGCTATTTTGTTAGGTATTCTAATTAAGGAATGTCTTAGGCAGTAGATTGATCCCATAGAGTAAATGAAATTTTAAAATGTGGACAGTTCATTCAACTATTACTATTGACTATATTATCTGTTACTTTGGAAATTAATG... | pathogenic | 267,755 |
Mutation found at chromosome 17 position 31230301, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TGTAATGTTCATATTGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAA... | TGTAATGTTCATATTGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAA... | pathogenic | 267,781 |
Mutation at chromosome 17, position 31230312, within NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'NF1-related_disorder', 'Neurofibromatosis,_type_1'] | TATTGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCC... | TATTGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCC... | pathogenic | 267,783 |
Determine if the mutation at chromosome 17, position 31230314 in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTT... | TTGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTT... | pathogenic | 267,787 |
Is chromosome 17, position 31230327, gene NF1 (neurofibromin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Neurofibromatosis,_type_1'] | TAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGC... | TAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGC... | pathogenic | 267,793 |
Clinical classification of chromosome 17, position 31230349, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGCCTCTAACCACCCCCCACCCACT... | TGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGCCTCTAACCACCCCCCACCCACT... | pathogenic | 267,797 |
Chromosome 17, position 31230353, gene NF1 (neurofibromin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | CCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGCCTCTAACCACCCCCCACCCACTTTCT... | CCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGCCTCTAACCACCCCCCACCCACTTTCT... | pathogenic | 267,799 |
Mutation found at chromosome 17 position 31230353, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | CCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGCCTCTAACCACCCCCCACCCACTTTCT... | CCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGCCTCTAACCACCCCCCACCCACTTTCT... | pathogenic | 267,801 |
A genetic variant at chromosome 17, position 31230374, affecting gene NF1 (neurofibromin 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGCCTCTAACCACCCCCCACCCACTTTCTTGCCTCTCTTCCCCCAACGTC... | GCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGCCTCTAACCACCCCCCACCCACTTTCTTGCCTCTCTTCCCCCAACGTC... | pathogenic | 267,810 |
The mutation in gene NF1 (neurofibromin 1) at chromosome 17, position 31230377—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGCCTCTAACCACCCCCCACCCACTTTCTTGCCTCTCTTCCCCCAACGTCTCT... | TAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGCCTCTAACCACCCCCCACCCACTTTCTTGCCTCTCTTCCCCCAACGTCTCT... | pathogenic | 267,812 |
Regarding the variant at chromosome 17 and position 31230877, affecting gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Neurofibromatosis,_type_1'] | TGATTATATTAGTGTATGATAAAAATAGATCAGTGGCTCTTTAAAAATGTATATGGTAATTTTATGGGTTGATTTTAATGTATATTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTT... | TGATTATATTAGTGTATGATAAAAATAGATCAGTGGCTCTTTAAAAATGTATATGGTAATTTTATGGGTTGATTTTAATGTATATTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTT... | pathogenic | 267,831 |
Variant chromosome 17, position 31230885, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTAGTGTATGATAAAAATAGATCAGTGGCTCTTTAAAAATGTATATGGTAATTTTATGGGTTGATTTTAATGTATATTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTT... | TTAGTGTATGATAAAAATAGATCAGTGGCTCTTTAAAAATGTATATGGTAATTTTATGGGTTGATTTTAATGTATATTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTT... | pathogenic | 267,834 |
Is the variant located on chromosome 17 at position 31230910, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Neurofibromatosis,_type_1'] | TGGCTCTTTAAAAATGTATATGGTAATTTTATGGGTTGATTTTAATGTATATTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAA... | TGGCTCTTTAAAAATGTATATGGTAATTTTATGGGTTGATTTTAATGTATATTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAA... | pathogenic | 267,839 |
Variant on chromosome 17, at position 31230927, affecting NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ATATGGTAATTTTATGGGTTGATTTTAATGTATATTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCA... | ATATGGTAATTTTATGGGTTGATTTTAATGTATATTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCA... | benign | 267,844 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 31232043, gene NF1 (neurofibromin 1): what disease(s) if pathogenic? | benign | TAGCAGAAACATTTTAAGAGATAAGAAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTG... | TAGCAGAAACATTTTAAGAGATAAGAAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTG... | benign | 267,847 |
Determine whether the variant at chromosome 17, position 31232043, in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TAGCAGAAACATTTTAAGAGATAAGAAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTG... | TAGCAGAAACATTTTAAGAGATAAGAAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTG... | benign | 267,848 |
The chromosome 17, position 31232043 genetic variant in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TAGCAGAAACATTTTAAGAGATAAGAAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTG... | TAGCAGAAACATTTTAAGAGATAAGAAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTG... | benign | 267,849 |
Is the genetic variant on chromosome 17, position 31232043, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TAGCAGAAACATTTTAAGAGATAAGAAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTG... | TAGCAGAAACATTTTAAGAGATAAGAAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTG... | benign | 267,850 |
The genetic variant at chromosome 17, position 31232043, affecting gene NF1 (neurofibromin 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | TAGCAGAAACATTTTAAGAGATAAGAAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTG... | TAGCAGAAACATTTTAAGAGATAAGAAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTG... | benign | 267,851 |
Mutation found at chromosome 17 position 31232043, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TAGCAGAAACATTTTAAGAGATAAGAAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTG... | TAGCAGAAACATTTTAAGAGATAAGAAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTG... | benign | 267,852 |
Determine whether the variant at chromosome 17, position 31232043, in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TAGCAGAAACATTTTAAGAGATAAGAAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTG... | TAGCAGAAACATTTTAAGAGATAAGAAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTG... | benign | 267,853 |
Variant at chromosome position 31232068, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGG... | AAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGG... | benign | 267,855 |
Classify the chromosome 17 variant at position 31232068 affecting gene NF1 (neurofibromin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGG... | AAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGG... | benign | 267,856 |
The mutation in gene NF1 (neurofibromin 1) at chromosome 17, position 31232069—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGGC... | AAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGGC... | benign | 267,857 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 31232069, gene NF1 (neurofibromin 1). What disease(s) is it linked to if pathogenic? | benign | AAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGGC... | AAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGGC... | benign | 267,858 |
Variant on chromosome 17, at position 31232104, affecting NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['NF1-related_disorder', 'Neurofibromatosis,_type_1'] | TAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGGCAAGGAGAGATGACCTCTCATTTTGCCAAGAGATGA... | TAAAATAACTGGCCATTCTTTACTGCACACAAACTAGGGTGTGACAGTAAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGGCAAGGAGAGATGACCTCTCATTTTGCCAAGAGATGA... | pathogenic | 267,868 |
Clinically, how would you classify the variant at chromosome 17, position 31232169, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Abnormality_of_the_skin', 'Neurofibromatosis,_type_1'] | TGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGGCAAGGAGAGATGACCTCTCATTTTGCCAAGAGATGAAATTTAGGTGAGTTCTCAAAAGAGCAATGTAGGGTCTTGTAAATCTTAATATGTCCAATGAAGTA... | TGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGGCAAGGAGAGATGACCTCTCATTTTGCCAAGAGATGAAATTTAGGTGAGTTCTCAAAAGAGCAATGTAGGGTCTTGTAAATCTTAATATGTCCAATGAAGTA... | pathogenic | 267,893 |
Is the genetic change at chromosome 17, position 31232173, within gene NF1 (neurofibromin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGGCAAGGAGAGATGACCTCTCATTTTGCCAAGAGATGAAATTTAGGTGAGTTCTCAAAAGAGCAATGTAGGGTCTTGTAAATCTTAATATGTCCAATGAAGTACAGA... | CGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGGCAAGGAGAGATGACCTCTCATTTTGCCAAGAGATGAAATTTAGGTGAGTTCTCAAAAGAGCAATGTAGGGTCTTGTAAATCTTAATATGTCCAATGAAGTACAGA... | pathogenic | 267,896 |
Does the variant impacting NF1 (neurofibromin 1) on chromosome 17, position 31232689, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATGATGGAGGATAAATATCCATGTTGCTTGTTCCCTTCTGGCTTTTATGTCTGTGATAGCAGTATCTCTTTTATAAAGTCGTCATGTCACTTAGGTTATCTGGCAAATTATTTGCACTATAAGAAATCTTACGTGACTAAAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTT... | ATGATGGAGGATAAATATCCATGTTGCTTGTTCCCTTCTGGCTTTTATGTCTGTGATAGCAGTATCTCTTTTATAAAGTCGTCATGTCACTTAGGTTATCTGGCAAATTATTTGCACTATAAGAAATCTTACGTGACTAAAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTT... | pathogenic | 267,903 |
A genetic alteration at chromosome 17, position 31232707, in gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CCATGTTGCTTGTTCCCTTCTGGCTTTTATGTCTGTGATAGCAGTATCTCTTTTATAAAGTCGTCATGTCACTTAGGTTATCTGGCAAATTATTTGCACTATAAGAAATCTTACGTGACTAAAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAA... | CCATGTTGCTTGTTCCCTTCTGGCTTTTATGTCTGTGATAGCAGTATCTCTTTTATAAAGTCGTCATGTCACTTAGGTTATCTGGCAAATTATTTGCACTATAAGAAATCTTACGTGACTAAAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAA... | pathogenic | 267,913 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 31232708, gene NF1 (neurofibromin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CATGTTGCTTGTTCCCTTCTGGCTTTTATGTCTGTGATAGCAGTATCTCTTTTATAAAGTCGTCATGTCACTTAGGTTATCTGGCAAATTATTTGCACTATAAGAAATCTTACGTGACTAAAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAAC... | CATGTTGCTTGTTCCCTTCTGGCTTTTATGTCTGTGATAGCAGTATCTCTTTTATAAAGTCGTCATGTCACTTAGGTTATCTGGCAAATTATTTGCACTATAAGAAATCTTACGTGACTAAAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAAC... | pathogenic | 267,914 |
For chromosome 17, position 31232709, gene NF1 (neurofibromin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Neurofibromatosis,_type_1'] | ATGTTGCTTGTTCCCTTCTGGCTTTTATGTCTGTGATAGCAGTATCTCTTTTATAAAGTCGTCATGTCACTTAGGTTATCTGGCAAATTATTTGCACTATAAGAAATCTTACGTGACTAAAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACT... | ATGTTGCTTGTTCCCTTCTGGCTTTTATGTCTGTGATAGCAGTATCTCTTTTATAAAGTCGTCATGTCACTTAGGTTATCTGGCAAATTATTTGCACTATAAGAAATCTTACGTGACTAAAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACT... | pathogenic | 267,915 |
Mutation at chromosome 17, position 31232715, within NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CTTGTTCCCTTCTGGCTTTTATGTCTGTGATAGCAGTATCTCTTTTATAAAGTCGTCATGTCACTTAGGTTATCTGGCAAATTATTTGCACTATAAGAAATCTTACGTGACTAAAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAA... | CTTGTTCCCTTCTGGCTTTTATGTCTGTGATAGCAGTATCTCTTTTATAAAGTCGTCATGTCACTTAGGTTATCTGGCAAATTATTTGCACTATAAGAAATCTTACGTGACTAAAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAA... | pathogenic | 267,916 |
Chromosome 17, position 31232729, gene NF1 (neurofibromin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | GCTTTTATGTCTGTGATAGCAGTATCTCTTTTATAAAGTCGTCATGTCACTTAGGTTATCTGGCAAATTATTTGCACTATAAGAAATCTTACGTGACTAAAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATAC... | GCTTTTATGTCTGTGATAGCAGTATCTCTTTTATAAAGTCGTCATGTCACTTAGGTTATCTGGCAAATTATTTGCACTATAAGAAATCTTACGTGACTAAAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATAC... | pathogenic | 267,919 |
Determine whether the variant at chromosome 17, position 31232808, in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | TAAGAAATCTTACGTGACTAAAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTAC... | TAAGAAATCTTACGTGACTAAAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTAC... | pathogenic | 267,933 |
Gene mutation in NF1 (neurofibromin 1) at chromosome 17, position 31232840—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | TGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAA... | TGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAA... | pathogenic | 267,950 |
Considering the variant on chromosome 17, location 31232840, involving gene NF1 (neurofibromin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Abnormal_lymph_node_morphology', 'Cervical_lymphadenopathy', 'Hereditary_cancer-predisposing_syndrome', 'Increased_nuchal_translucency', 'Juvenile_myelomonocytic_leukemia', 'NF1-related_disorder', 'Neurofibromatosis,_type_1'] | TGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAA... | TGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAA... | pathogenic | 267,951 |
A genetic variant at chromosome 17, position 31233029, affecting gene NF1 (neurofibromin 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | ACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTC... | ACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTC... | pathogenic | 267,973 |
Determine if the mutation at chromosome 17, position 31233070 in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Neurofibromatosis,_type_1'] | ACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGC... | ACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGC... | pathogenic | 267,984 |
Regarding the variant at chromosome 17 and position 31233107, affecting gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATT... | AAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATT... | pathogenic | 267,992 |
Variant in gene NF1 (neurofibromin 1), located at chromosome 17 position 31233143: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | GATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATG... | GATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATG... | pathogenic | 268,003 |
Regarding the variant found on chromosome 17 at position 31233143 in gene NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | GATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATG... | GATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATG... | pathogenic | 268,004 |
Evaluate the clinical significance of the mutation at chromosome 17, position 31233167 in gene NF1 (neurofibromin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1', 'likely other unspecified diseases'] | GTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATGTTTCTTTGACCAAGCCTAGCTTTA... | GTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATGTTTCTTTGACCAAGCCTAGCTTTA... | pathogenic | 268,010 |
For chromosome 17, position 31233185, gene NF1 (neurofibromin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | TGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATGTTTCTTTGACCAAGCCTAGCTTTATAATACAGTCTTCTCTGT... | TGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATGTTTCTTTGACCAAGCCTAGCTTTATAATACAGTCTTCTCTGT... | pathogenic | 268,014 |
Mutation found at chromosome 17 position 31233189, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | AAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATGTTTCTTTGACCAAGCCTAGCTTTATAATACAGTCTTCTCTGTCAGG... | AAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATGTTTCTTTGACCAAGCCTAGCTTTATAATACAGTCTTCTCTGTCAGG... | pathogenic | 268,016 |
Is the genetic change at chromosome 17, position 31235635, within gene NF1 (neurofibromin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Neurofibromatosis,_type_1'] | AATGTCTCATACAGTTTTTTAAAAATTTAAGCACTATATTTGCATTTGATATTATGATATTGTTTATTTTAAAAACTGAAAGCGTCATATGGCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACT... | AATGTCTCATACAGTTTTTTAAAAATTTAAGCACTATATTTGCATTTGATATTATGATATTGTTTATTTTAAAAACTGAAAGCGTCATATGGCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACT... | pathogenic | 268,035 |
Evaluate if the mutation on chromosome 17 at position 31235638 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['NF1-related_disorder', 'Neurofibromatosis,_type_1'] | GTCTCATACAGTTTTTTAAAAATTTAAGCACTATATTTGCATTTGATATTATGATATTGTTTATTTTAAAAACTGAAAGCGTCATATGGCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCT... | GTCTCATACAGTTTTTTAAAAATTTAAGCACTATATTTGCATTTGATATTATGATATTGTTTATTTTAAAAACTGAAAGCGTCATATGGCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCT... | pathogenic | 268,036 |
Is the genetic variant on chromosome 17, position 31235638, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Inborn_genetic_diseases', 'Neurofibromatosis,_type_1'] | GTCTCATACAGTTTTTTAAAAATTTAAGCACTATATTTGCATTTGATATTATGATATTGTTTATTTTAAAAACTGAAAGCGTCATATGGCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCT... | GTCTCATACAGTTTTTTAAAAATTTAAGCACTATATTTGCATTTGATATTATGATATTGTTTATTTTAAAAACTGAAAGCGTCATATGGCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCT... | pathogenic | 268,037 |
The genetic variant at chromosome 17, position 31235665, affecting gene NF1 (neurofibromin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GCACTATATTTGCATTTGATATTATGATATTGTTTATTTTAAAAACTGAAAGCGTCATATGGCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGA... | GCACTATATTTGCATTTGATATTATGATATTGTTTATTTTAAAAACTGAAAGCGTCATATGGCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGA... | pathogenic | 268,042 |
Variant in gene NF1 (neurofibromin 1), located at chromosome 17 position 31235682: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | GATATTATGATATTGTTTATTTTAAAAACTGAAAGCGTCATATGGCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCAT... | GATATTATGATATTGTTTATTTTAAAAACTGAAAGCGTCATATGGCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCAT... | pathogenic | 268,046 |
The mutation in gene NF1 (neurofibromin 1) at chromosome 17, position 31235703—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | TTAAAAACTGAAAGCGTCATATGGCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTA... | TTAAAAACTGAAAGCGTCATATGGCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTA... | pathogenic | 268,051 |
Does the variant on chromosome 17 at location 31235719 affecting gene NF1 (neurofibromin 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['NF1-related_disorder', 'Neurofibromatosis,_type_1'] | TCATATGGCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCA... | TCATATGGCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCA... | pathogenic | 268,054 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 31235722, gene NF1 (neurofibromin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TATGGCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCA... | TATGGCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCA... | pathogenic | 268,055 |
Regarding the variant at chromosome 17 and position 31235726, affecting gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Neurofibromatosis,_type_1'] | GCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGC... | GCTATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGC... | pathogenic | 268,057 |
Is the variant located on chromosome 17 at position 31235939, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCACACCAGCTACCTTTCTGTCCCTCCTTGTTAGACTTATTTCTGCTTTAGAGCACCCTTGCTGCTGCCACCACCTGAAATGCTTCTCTTCTGGTATTTTATTTTGGTGAGAACACCTGGCATGAGATCTACCCTCTAACAGATTTTTAAGTGTATAATACAGTATTGCTGTCTGTAGGCACAATGCTGCACAGCAGATCTCTAGAACTTACCT... | AAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCACACCAGCTACCTTTCTGTCCCTCCTTGTTAGACTTATTTCTGCTTTAGAGCACCCTTGCTGCTGCCACCACCTGAAATGCTTCTCTTCTGGTATTTTATTTTGGTGAGAACACCTGGCATGAGATCTACCCTCTAACAGATTTTTAAGTGTATAATACAGTATTGCTGTCTGTAGGCACAATGCTGCACAGCAGATCTCTAGAACTTACCT... | pathogenic | 268,083 |
Clinically, how would you classify the variant at chromosome 17, position 31235955, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Neurofibromatosis,_type_1'] | CCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCACACCAGCTACCTTTCTGTCCCTCCTTGTTAGACTTATTTCTGCTTTAGAGCACCCTTGCTGCTGCCACCACCTGAAATGCTTCTCTTCTGGTATTTTATTTTGGTGAGAACACCTGGCATGAGATCTACCCTCTAACAGATTTTTAAGTGTATAATACAGTATTGCTGTCTGTAGGCACAATGCTGCACAGCAGATCTCTAGAACTTACCTTGTATAACTGAAATTT... | CCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCACACCAGCTACCTTTCTGTCCCTCCTTGTTAGACTTATTTCTGCTTTAGAGCACCCTTGCTGCTGCCACCACCTGAAATGCTTCTCTTCTGGTATTTTATTTTGGTGAGAACACCTGGCATGAGATCTACCCTCTAACAGATTTTTAAGTGTATAATACAGTATTGCTGTCTGTAGGCACAATGCTGCACAGCAGATCTCTAGAACTTACCTTGTATAACTGAAATTT... | pathogenic | 268,086 |
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