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 |
|---|---|---|---|---|---|
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 31327763, gene NF1 (neurofibromin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACT... | TATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACT... | pathogenic | 268,618 |
The genetic variant at chromosome 17, position 31327779, affecting gene NF1 (neurofibromin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTA... | TGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTA... | pathogenic | 268,623 |
Chromosome 17, position 31330303, gene NF1 (neurofibromin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CACCTACATCACTCTTAACAAAATTCTCAAAATAAATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTT... | CACCTACATCACTCTTAACAAAATTCTCAAAATAAATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTT... | pathogenic | 268,648 |
The mutation impacting NF1 (neurofibromin 1) on chromosome 17 at position 31330313: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | ACTCTTAACAAAATTCTCAAAATAAATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGT... | ACTCTTAACAAAATTCTCAAAATAAATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGT... | pathogenic | 268,651 |
A genetic alteration at chromosome 17, position 31330338, in gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Neurofibromatosis,_type_1'] | ATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGC... | ATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGC... | pathogenic | 268,659 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 31330343, gene NF1 (neurofibromin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | AAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCA... | AAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCA... | pathogenic | 268,661 |
A mutation at chromosome position 31330361 on chromosome 17 in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Neurofibromatosis,_type_1'] | GAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCT... | GAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCT... | pathogenic | 268,667 |
Mutation found at chromosome 17 position 31330371, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCTCCCTTTTCTC... | TAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCTCCCTTTTCTC... | pathogenic | 268,671 |
For chromosome 17, position 31330374, gene NF1 (neurofibromin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Neurofibromatosis,_type_1'] | TTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCTCCCTTTTCTCCCC... | TTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCTCCCTTTTCTCCCC... | pathogenic | 268,676 |
Evaluate the clinical significance of the mutation at chromosome 17, position 31330415 in gene NF1 (neurofibromin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | AAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCTCCCTTTTCTCCCCTCTCCTTACCAAGTTAGGATAATTCTTTGTCTCAAGTACCC... | AAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCTCCCTTTTCTCCCCTCTCCTTACCAAGTTAGGATAATTCTTTGTCTCAAGTACCC... | pathogenic | 268,684 |
The chromosome 17, position 31330461 genetic variant in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Neurofibromatosis,_type_1', 'likely other unspecified diseases'] | CACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCTCCCTTTTCTCCCCTCTCCTTACCAAGTTAGGATAATTCTTTGTCTCAAGTACCCTGAGACTTTGAAGATTTTTCAGATGTAAATTCTTAACTTCTGAAAA... | CACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCTCCCTTTTCTCCCCTCTCCTTACCAAGTTAGGATAATTCTTTGTCTCAAGTACCCTGAGACTTTGAAGATTTTTCAGATGTAAATTCTTAACTTCTGAAAA... | pathogenic | 268,694 |
Located at chromosome 17 position 31330471, the variant affecting gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCTCCCTTTTCTCCCCTCTCCTTACCAAGTTAGGATAATTCTTTGTCTCAAGTACCCTGAGACTTTGAAGATTTTTCAGATGTAAATTCTTAACTTCTGAAAATTTTCCCTGA... | CTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCTCCCTTTTCTCCCCTCTCCTTACCAAGTTAGGATAATTCTTTGTCTCAAGTACCCTGAGACTTTGAAGATTTTTCAGATGTAAATTCTTAACTTCTGAAAATTTTCCCTGA... | pathogenic | 268,698 |
Evaluate if the mutation on chromosome 17 at position 31330472 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | TATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCTCCCTTTTCTCCCCTCTCCTTACCAAGTTAGGATAATTCTTTGTCTCAAGTACCCTGAGACTTTGAAGATTTTTCAGATGTAAATTCTTAACTTCTGAAAATTTTCCCTGAG... | TATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCTCCCTTTTCTCCCCTCTCCTTACCAAGTTAGGATAATTCTTTGTCTCAAGTACCCTGAGACTTTGAAGATTTTTCAGATGTAAATTCTTAACTTCTGAAAATTTTCCCTGAG... | pathogenic | 268,699 |
Is the genetic mutation found on chromosome 17 at position 31330474, within the gene NF1 (neurofibromin 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCTCCCTTTTCTCCCCTCTCCTTACCAAGTTAGGATAATTCTTTGTCTCAAGTACCCTGAGACTTTGAAGATTTTTCAGATGTAAATTCTTAACTTCTGAAAATTTTCCCTGAGGA... | TGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCTCCCTTTTCTCCCCTCTCCTTACCAAGTTAGGATAATTCTTTGTCTCAAGTACCCTGAGACTTTGAAGATTTTTCAGATGTAAATTCTTAACTTCTGAAAATTTTCCCTGAGGA... | pathogenic | 268,702 |
Considering the genetic mutation at chromosome 17, position 31334826, impacting NF1 (neurofibromin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAAT... | TCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAAT... | benign | 268,713 |
Benign or pathogenic: chromosome 17, position 31334826, gene NF1 (neurofibromin 1) variant? Disease(s) if pathogenic? | benign | TCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAAT... | TCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAAT... | benign | 268,715 |
Classify the chromosome 17 variant at position 31334839 affecting gene NF1 (neurofibromin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGA... | ATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGA... | pathogenic | 268,717 |
Chromosome 17, position 31334853, gene NF1 (neurofibromin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Neurofibromatosis,_type_1'] | ACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGAT... | ACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGAT... | pathogenic | 268,722 |
Variant in gene NF1 (neurofibromin 1), located at chromosome 17 position 31334855: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAA... | CTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAA... | pathogenic | 268,724 |
Is the genetic change at chromosome 17, position 31334859, within gene NF1 (neurofibromin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Neurofibromatosis,_type_1'] | GAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAG... | GAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAG... | pathogenic | 268,725 |
Variant in gene NF1 (neurofibromin 1), located at chromosome 17 position 31334910: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['NF1-related_disorder', 'Neurofibromatosis,_type_1'] | AATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGT... | AATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGT... | pathogenic | 268,737 |
Does the chromosome 17 mutation at position 31334930 within gene NF1 (neurofibromin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | TCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAA... | TCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAA... | pathogenic | 268,741 |
Classify the chromosome 17 variant at position 31334930 affecting gene NF1 (neurofibromin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAA... | TCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAA... | pathogenic | 268,742 |
Classify the chromosome 17 variant at position 31334938 affecting gene NF1 (neurofibromin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Neurofibromatosis,_type_1'] | CCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAATTTTTCTA... | CCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAATTTTTCTA... | pathogenic | 268,744 |
For chromosome 17, position 31334948, gene NF1 (neurofibromin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAATTTTTCTAGAAAGGCATT... | ATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAATTTTTCTAGAAAGGCATT... | pathogenic | 268,747 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 31334961, gene NF1 (neurofibromin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | ATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAATTTTTCTAGAAAGGCATTTGGAAGTGGATAA... | ATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAATTTTTCTAGAAAGGCATTTGGAAGTGGATAA... | pathogenic | 268,751 |
Variant at chromosome position 31334966, 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'] | TTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAATTTTTCTAGAAAGGCATTTGGAAGTGGATAACAAGA... | TTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAATTTTTCTAGAAAGGCATTTGGAAGTGGATAACAAGA... | pathogenic | 268,753 |
Mutation found at chromosome 17 position 31334978, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | AAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAATTTTTCTAGAAAGGCATTTGGAAGTGGATAACAAGACCTTAAGACTAT... | AAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAATTTTTCTAGAAAGGCATTTGGAAGTGGATAACAAGACCTTAAGACTAT... | pathogenic | 268,756 |
Classify the chromosome 17 variant at position 31334993 affecting gene NF1 (neurofibromin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAATTTTTCTAGAAAGGCATTTGGAAGTGGATAACAAGACCTTAAGACTATTCATACCTTTTGGCC... | ACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAATTTTTCTAGAAAGGCATTTGGAAGTGGATAACAAGACCTTAAGACTATTCATACCTTTTGGCC... | pathogenic | 268,761 |
Does the variant impacting NF1 (neurofibromin 1) on chromosome 17, position 31336319, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGGGCGACAGAGGAGACTCCATCTCAAAAAAAAAAAAAATGAATAATCTCAGTATAATCACTGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCCGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGG... | TGGGCGACAGAGGAGACTCCATCTCAAAAAAAAAAAAAATGAATAATCTCAGTATAATCACTGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCCGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGG... | benign | 268,777 |
Located at chromosome 17 position 31336364, the variant affecting gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Neurofibromatosis,_type_1'] | ATCTCAGTATAATCACTGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCCGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTT... | ATCTCAGTATAATCACTGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCCGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTT... | pathogenic | 268,790 |
The mutation in gene NF1 (neurofibromin 1) at chromosome 17, position 31336596—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAAT... | TTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAAT... | benign | 268,809 |
A genetic variant on chromosome 17, position 31336596, affects the gene NF1 (neurofibromin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAAT... | TTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAAT... | benign | 268,810 |
Variant at chromosome position 31336606, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCC... | AATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCC... | benign | 268,813 |
Does the genetic variant at chromosome 17, position 31336607, impacting gene NF1 (neurofibromin 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | ATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCA... | ATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCA... | benign | 268,815 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 31336633, gene NF1 (neurofibromin 1): what disease(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | GAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTG... | GAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTG... | pathogenic | 268,818 |
A mutation at chromosome position 31336706 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'] | TTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAAT... | TTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAAT... | pathogenic | 268,832 |
A genetic variant at chromosome 17, position 31336707, affecting gene NF1 (neurofibromin 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Neurofibromatosis,_type_1'] | TCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATG... | TCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATG... | pathogenic | 268,833 |
Is the genetic change at chromosome 17, position 31336732, within gene NF1 (neurofibromin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Neurofibromatosis,_type_1', 'likely other unspecified diseases'] | TACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCA... | TACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCA... | pathogenic | 268,840 |
Does the chromosome 17 mutation at position 31336760 within gene NF1 (neurofibromin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | TCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAG... | TCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAG... | pathogenic | 268,846 |
The chromosome 17, position 31336787 genetic variant in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | CTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCT... | CTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCT... | pathogenic | 268,853 |
Mutation found at chromosome 17 position 31336790, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | TACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGT... | TACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGT... | pathogenic | 268,854 |
Is the genetic change at chromosome 17, position 31336792, within gene NF1 (neurofibromin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTAT... | CCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTAT... | pathogenic | 268,857 |
Variant chromosome 17, position 31336841, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | TGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCG... | TGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCG... | pathogenic | 268,865 |
Is chromosome 17, position 31336879, gene NF1 (neurofibromin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTC... | TTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTC... | pathogenic | 268,873 |
Does the variant on chromosome 17 at location 31336884 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', 'Tibial_pseudarthrosis'] | AGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCT... | AGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCT... | pathogenic | 268,876 |
Variant at chromosome position 31336911, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Neurofibromatosis,_type_1'] | GGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAG... | GGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAG... | pathogenic | 268,883 |
Is the genetic mutation found on chromosome 17 at position 31337366, within the gene NF1 (neurofibromin 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TGCAAATAACTAGATTTTATATATATATTATATAGAACTGTAGAAATCTGGTGACATTTCTAGTGCTTTATTCTAGTTCTCTACATTCCAAAGGTGTCAGTAGATGTTTCTTCTTATTGATGCTATTTGGGACATCTGCTTTCATTTATAGTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTG... | TGCAAATAACTAGATTTTATATATATATTATATAGAACTGTAGAAATCTGGTGACATTTCTAGTGCTTTATTCTAGTTCTCTACATTCCAAAGGTGTCAGTAGATGTTTCTTCTTATTGATGCTATTTGGGACATCTGCTTTCATTTATAGTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTG... | pathogenic | 268,893 |
The chromosome 17, position 31337374 genetic variant in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | ACTAGATTTTATATATATATTATATAGAACTGTAGAAATCTGGTGACATTTCTAGTGCTTTATTCTAGTTCTCTACATTCCAAAGGTGTCAGTAGATGTTTCTTCTTATTGATGCTATTTGGGACATCTGCTTTCATTTATAGTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCC... | ACTAGATTTTATATATATATTATATAGAACTGTAGAAATCTGGTGACATTTCTAGTGCTTTATTCTAGTTCTCTACATTCCAAAGGTGTCAGTAGATGTTTCTTCTTATTGATGCTATTTGGGACATCTGCTTTCATTTATAGTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCC... | pathogenic | 268,894 |
Is chromosome 17, position 31337401, gene NF1 (neurofibromin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AACTGTAGAAATCTGGTGACATTTCTAGTGCTTTATTCTAGTTCTCTACATTCCAAAGGTGTCAGTAGATGTTTCTTCTTATTGATGCTATTTGGGACATCTGCTTTCATTTATAGTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTC... | AACTGTAGAAATCTGGTGACATTTCTAGTGCTTTATTCTAGTTCTCTACATTCCAAAGGTGTCAGTAGATGTTTCTTCTTATTGATGCTATTTGGGACATCTGCTTTCATTTATAGTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTC... | pathogenic | 268,899 |
Located at chromosome 17 position 31337442, the variant affecting gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTCTCTACATTCCAAAGGTGTCAGTAGATGTTTCTTCTTATTGATGCTATTTGGGACATCTGCTTTCATTTATAGTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTCATTTCCTATATTTTATTTTTTTTTGAGACTGAGTCTCGCTC... | TTCTCTACATTCCAAAGGTGTCAGTAGATGTTTCTTCTTATTGATGCTATTTGGGACATCTGCTTTCATTTATAGTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTCATTTCCTATATTTTATTTTTTTTTGAGACTGAGTCTCGCTC... | pathogenic | 268,906 |
Clinical classification of chromosome 17, position 31337478, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CTTATTGATGCTATTTGGGACATCTGCTTTCATTTATAGTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTCATTTCCTATATTTTATTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACAGTCTCGG... | CTTATTGATGCTATTTGGGACATCTGCTTTCATTTATAGTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTCATTTCCTATATTTTATTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACAGTCTCGG... | pathogenic | 268,911 |
Benign or pathogenic: chromosome 17, position 31337516, gene NF1 (neurofibromin 1) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTCATTTCCTATATTTTATTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACAGTCTCGGCTCATTGCAACCTCTGCCTCCCAGGCTCAAGTGACCCT... | GTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTCATTTCCTATATTTTATTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACAGTCTCGGCTCATTGCAACCTCTGCCTCCCAGGCTCAAGTGACCCT... | pathogenic | 268,924 |
A genetic variant at chromosome 17, position 31337516, affecting gene NF1 (neurofibromin 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1', 'likely other unspecified diseases'] | GTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTCATTTCCTATATTTTATTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACAGTCTCGGCTCATTGCAACCTCTGCCTCCCAGGCTCAAGTGACCCT... | GTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTCATTTCCTATATTTTATTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACAGTCTCGGCTCATTGCAACCTCTGCCTCCCAGGCTCAAGTGACCCT... | pathogenic | 268,925 |
Is chromosome 17, position 31337527, gene NF1 (neurofibromin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTCATTTCCTATATTTTATTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACAGTCTCGGCTCATTGCAACCTCTGCCTCCCAGGCTCAAGTGACCCTTCCACCTCAGC... | GAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTCATTTCCTATATTTTATTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACAGTCTCGGCTCATTGCAACCTCTGCCTCCCAGGCTCAAGTGACCCTTCCACCTCAGC... | pathogenic | 268,928 |
Variant at chromosome position 31337810, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TCTGCCTCCCAGGCTCAAGTGACCCTTCCACCTCAGCCTCCCAAGTAGCTGGGCCTACAGGTGCACACCAACACACCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACTGCACCCAGCTCTGTATTTTCAAATTACTATTTTATATTGATGCTACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATT... | TCTGCCTCCCAGGCTCAAGTGACCCTTCCACCTCAGCCTCCCAAGTAGCTGGGCCTACAGGTGCACACCAACACACCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACTGCACCCAGCTCTGTATTTTCAAATTACTATTTTATATTGATGCTACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATT... | benign | 268,947 |
Evaluate if the mutation on chromosome 17 at position 31337831 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | ACCCTTCCACCTCAGCCTCCCAAGTAGCTGGGCCTACAGGTGCACACCAACACACCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACTGCACCCAGCTCTGTATTTTCAAATTACTATTTTATATTGATGCTACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTG... | ACCCTTCCACCTCAGCCTCCCAAGTAGCTGGGCCTACAGGTGCACACCAACACACCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACTGCACCCAGCTCTGTATTTTCAAATTACTATTTTATATTGATGCTACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTG... | pathogenic | 268,952 |
Is the genetic mutation found on chromosome 17 at position 31337843, within the gene NF1 (neurofibromin 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CAGCCTCCCAAGTAGCTGGGCCTACAGGTGCACACCAACACACCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACTGCACCCAGCTCTGTATTTTCAAATTACTATTTTATATTGATGCTACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTGAATACCAATCTC... | CAGCCTCCCAAGTAGCTGGGCCTACAGGTGCACACCAACACACCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACTGCACCCAGCTCTGTATTTTCAAATTACTATTTTATATTGATGCTACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTGAATACCAATCTC... | pathogenic | 268,956 |
A genetic variant on chromosome 17, position 31337879, affects the gene NF1 (neurofibromin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AACACACCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACTGCACCCAGCTCTGTATTTTCAAATTACTATTTTATATTGATGCTACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCC... | AACACACCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACTGCACCCAGCTCTGTATTTTCAAATTACTATTTTATATTGATGCTACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCC... | pathogenic | 268,973 |
For chromosome 17, position 31337881, gene NF1 (neurofibromin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Axillary_freckling', 'Cafe_au_lait_spots,_multiple', 'Inguinal_freckling', 'Neurofibroma', 'Neurofibromatosis,_type_1'] | CACACCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACTGCACCCAGCTCTGTATTTTCAAATTACTATTTTATATTGATGCTACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCCTT... | CACACCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACTGCACCCAGCTCTGTATTTTCAAATTACTATTTTATATTGATGCTACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCCTT... | pathogenic | 268,977 |
For chromosome 17, position 31338065, gene NF1 (neurofibromin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Neurofibromatosis,_type_1'] | ATTGATGCTACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCCTTTACTGGATATTTTATAATAAATTGTATTTACTGACAGGCCTGTAAATAAAATCTAGTATTTTTGAGGCCTCAGGTAAAATAGAATTTTCATATTGATTAGGCTGTTCCAATGAATATTTTTTAATTAAAAATTAAATTGGTAGAGTGATTAAAAACATGTTATTTTCCTTCTTCAACTAGATTA... | ATTGATGCTACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCCTTTACTGGATATTTTATAATAAATTGTATTTACTGACAGGCCTGTAAATAAAATCTAGTATTTTTGAGGCCTCAGGTAAAATAGAATTTTCATATTGATTAGGCTGTTCCAATGAATATTTTTTAATTAAAAATTAAATTGGTAGAGTGATTAAAAACATGTTATTTTCCTTCTTCAACTAGATTA... | pathogenic | 268,990 |
A genetic alteration at chromosome 17, position 31338069, in gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Neurofibromatosis,_type_1'] | ATGCTACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCCTTTACTGGATATTTTATAATAAATTGTATTTACTGACAGGCCTGTAAATAAAATCTAGTATTTTTGAGGCCTCAGGTAAAATAGAATTTTCATATTGATTAGGCTGTTCCAATGAATATTTTTTAATTAAAAATTAAATTGGTAGAGTGATTAAAAACATGTTATTTTCCTTCTTCAACTAGATTACAGA... | ATGCTACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCCTTTACTGGATATTTTATAATAAATTGTATTTACTGACAGGCCTGTAAATAAAATCTAGTATTTTTGAGGCCTCAGGTAAAATAGAATTTTCATATTGATTAGGCTGTTCCAATGAATATTTTTTAATTAAAAATTAAATTGGTAGAGTGATTAAAAACATGTTATTTTCCTTCTTCAACTAGATTACAGA... | pathogenic | 268,992 |
Variant at chromosome 17, position 31338073, gene NF1 (neurofibromin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCCTTTACTGGATATTTTATAATAAATTGTATTTACTGACAGGCCTGTAAATAAAATCTAGTATTTTTGAGGCCTCAGGTAAAATAGAATTTTCATATTGATTAGGCTGTTCCAATGAATATTTTTTAATTAAAAATTAAATTGGTAGAGTGATTAAAAACATGTTATTTTCCTTCTTCAACTAGATTACAGATCTG... | TACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCCTTTACTGGATATTTTATAATAAATTGTATTTACTGACAGGCCTGTAAATAAAATCTAGTATTTTTGAGGCCTCAGGTAAAATAGAATTTTCATATTGATTAGGCTGTTCCAATGAATATTTTTTAATTAAAAATTAAATTGGTAGAGTGATTAAAAACATGTTATTTTCCTTCTTCAACTAGATTACAGATCTG... | pathogenic | 268,995 |
Determine if the mutation at chromosome 17, position 31338111 in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Neurofibromatosis,_type_1'] | AGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCCTTTACTGGATATTTTATAATAAATTGTATTTACTGACAGGCCTGTAAATAAAATCTAGTATTTTTGAGGCCTCAGGTAAAATAGAATTTTCATATTGATTAGGCTGTTCCAATGAATATTTTTTAATTAAAAATTAAATTGGTAGAGTGATTAAAAACATGTTATTTTCCTTCTTCAACTAGATTACAGATCTGCTTGATGTTGTACTAGACAGTTTCATCAAAACCAGTGC... | AGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCCTTTACTGGATATTTTATAATAAATTGTATTTACTGACAGGCCTGTAAATAAAATCTAGTATTTTTGAGGCCTCAGGTAAAATAGAATTTTCATATTGATTAGGCTGTTCCAATGAATATTTTTTAATTAAAAATTAAATTGGTAGAGTGATTAAAAACATGTTATTTTCCTTCTTCAACTAGATTACAGATCTGCTTGATGTTGTACTAGACAGTTTCATCAAAACCAGTGC... | pathogenic | 269,000 |
A genetic alteration at chromosome 17, position 31338714, in gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Neurofibromatosis,_type_1'] | AGACATGCTTATCTCCAACTCCTACTTTAGAACAACATCTTATGTGGGATGATATTGCTATTTTAGCACGCTACATGCTGATGCTGTCCTTCAACAATTCCCTTGATGTGGCAGCTCATCTTCCCTACCTCTTCCACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAGCTTCCACACATGGACTGGTCATTAATATCATTCACTCTCTGTGTACTTGTTCACAGCTTCATTTTAGTGGTAAGTTCTAGGAAAGGAATTTGTGTTTACCAGTTCCTTTCTCCATTTTACTTCACCTGATCAATATAGAT... | AGACATGCTTATCTCCAACTCCTACTTTAGAACAACATCTTATGTGGGATGATATTGCTATTTTAGCACGCTACATGCTGATGCTGTCCTTCAACAATTCCCTTGATGTGGCAGCTCATCTTCCCTACCTCTTCCACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAGCTTCCACACATGGACTGGTCATTAATATCATTCACTCTCTGTGTACTTGTTCACAGCTTCATTTTAGTGGTAAGTTCTAGGAAAGGAATTTGTGTTTACCAGTTCCTTTCTCCATTTTACTTCACCTGATCAATATAGAT... | pathogenic | 269,018 |
Is the chromosome 17, position 31338716 variant in NF1 (neurofibromin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Neurofibromatosis,_type_1'] | ACATGCTTATCTCCAACTCCTACTTTAGAACAACATCTTATGTGGGATGATATTGCTATTTTAGCACGCTACATGCTGATGCTGTCCTTCAACAATTCCCTTGATGTGGCAGCTCATCTTCCCTACCTCTTCCACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAGCTTCCACACATGGACTGGTCATTAATATCATTCACTCTCTGTGTACTTGTTCACAGCTTCATTTTAGTGGTAAGTTCTAGGAAAGGAATTTGTGTTTACCAGTTCCTTTCTCCATTTTACTTCACCTGATCAATATAGATTA... | ACATGCTTATCTCCAACTCCTACTTTAGAACAACATCTTATGTGGGATGATATTGCTATTTTAGCACGCTACATGCTGATGCTGTCCTTCAACAATTCCCTTGATGTGGCAGCTCATCTTCCCTACCTCTTCCACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAGCTTCCACACATGGACTGGTCATTAATATCATTCACTCTCTGTGTACTTGTTCACAGCTTCATTTTAGTGGTAAGTTCTAGGAAAGGAATTTGTGTTTACCAGTTCCTTTCTCCATTTTACTTCACCTGATCAATATAGATTA... | pathogenic | 269,019 |
Is the variant located on chromosome 17 at position 31338733, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | TCCTACTTTAGAACAACATCTTATGTGGGATGATATTGCTATTTTAGCACGCTACATGCTGATGCTGTCCTTCAACAATTCCCTTGATGTGGCAGCTCATCTTCCCTACCTCTTCCACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAGCTTCCACACATGGACTGGTCATTAATATCATTCACTCTCTGTGTACTTGTTCACAGCTTCATTTTAGTGGTAAGTTCTAGGAAAGGAATTTGTGTTTACCAGTTCCTTTCTCCATTTTACTTCACCTGATCAATATAGATTATCTTATTTATGTTTGTG... | TCCTACTTTAGAACAACATCTTATGTGGGATGATATTGCTATTTTAGCACGCTACATGCTGATGCTGTCCTTCAACAATTCCCTTGATGTGGCAGCTCATCTTCCCTACCTCTTCCACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAGCTTCCACACATGGACTGGTCATTAATATCATTCACTCTCTGTGTACTTGTTCACAGCTTCATTTTAGTGGTAAGTTCTAGGAAAGGAATTTGTGTTTACCAGTTCCTTTCTCCATTTTACTTCACCTGATCAATATAGATTATCTTATTTATGTTTGTG... | pathogenic | 269,023 |
Determine whether the variant at chromosome 17, position 31338737, in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | 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', 'Tibial_pseudarthrosis'] | ACTTTAGAACAACATCTTATGTGGGATGATATTGCTATTTTAGCACGCTACATGCTGATGCTGTCCTTCAACAATTCCCTTGATGTGGCAGCTCATCTTCCCTACCTCTTCCACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAGCTTCCACACATGGACTGGTCATTAATATCATTCACTCTCTGTGTACTTGTTCACAGCTTCATTTTAGTGGTAAGTTCTAGGAAAGGAATTTGTGTTTACCAGTTCCTTTCTCCATTTTACTTCACCTGATCAATATAGATTATCTTATTTATGTTTGTGCTCT... | ACTTTAGAACAACATCTTATGTGGGATGATATTGCTATTTTAGCACGCTACATGCTGATGCTGTCCTTCAACAATTCCCTTGATGTGGCAGCTCATCTTCCCTACCTCTTCCACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAGCTTCCACACATGGACTGGTCATTAATATCATTCACTCTCTGTGTACTTGTTCACAGCTTCATTTTAGTGGTAAGTTCTAGGAAAGGAATTTGTGTTTACCAGTTCCTTTCTCCATTTTACTTCACCTGATCAATATAGATTATCTTATTTATGTTTGTGCTCT... | pathogenic | 269,024 |
Gene NF1 (neurofibromin 1) variant at chromosome position 31338779 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | 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'] | GCACGCTACATGCTGATGCTGTCCTTCAACAATTCCCTTGATGTGGCAGCTCATCTTCCCTACCTCTTCCACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAGCTTCCACACATGGACTGGTCATTAATATCATTCACTCTCTGTGTACTTGTTCACAGCTTCATTTTAGTGGTAAGTTCTAGGAAAGGAATTTGTGTTTACCAGTTCCTTTCTCCATTTTACTTCACCTGATCAATATAGATTATCTTATTTATGTTTGTGCTCTAACACCAAGTTGCTAATTTAAGCCTCCAGTAATGACATGAAA... | GCACGCTACATGCTGATGCTGTCCTTCAACAATTCCCTTGATGTGGCAGCTCATCTTCCCTACCTCTTCCACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAGCTTCCACACATGGACTGGTCATTAATATCATTCACTCTCTGTGTACTTGTTCACAGCTTCATTTTAGTGGTAAGTTCTAGGAAAGGAATTTGTGTTTACCAGTTCCTTTCTCCATTTTACTTCACCTGATCAATATAGATTATCTTATTTATGTTTGTGCTCTAACACCAAGTTGCTAATTTAAGCCTCCAGTAATGACATGAAA... | pathogenic | 269,033 |
Considering the genetic mutation at chromosome 17, position 31338802, 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'] | CTTCAACAATTCCCTTGATGTGGCAGCTCATCTTCCCTACCTCTTCCACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAGCTTCCACACATGGACTGGTCATTAATATCATTCACTCTCTGTGTACTTGTTCACAGCTTCATTTTAGTGGTAAGTTCTAGGAAAGGAATTTGTGTTTACCAGTTCCTTTCTCCATTTTACTTCACCTGATCAATATAGATTATCTTATTTATGTTTGTGCTCTAACACCAAGTTGCTAATTTAAGCCTCCAGTAATGACATGAAATATTACCAAAAAGAAAATAAATT... | CTTCAACAATTCCCTTGATGTGGCAGCTCATCTTCCCTACCTCTTCCACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAGCTTCCACACATGGACTGGTCATTAATATCATTCACTCTCTGTGTACTTGTTCACAGCTTCATTTTAGTGGTAAGTTCTAGGAAAGGAATTTGTGTTTACCAGTTCCTTTCTCCATTTTACTTCACCTGATCAATATAGATTATCTTATTTATGTTTGTGCTCTAACACCAAGTTGCTAATTTAAGCCTCCAGTAATGACATGAAATATTACCAAAAAGAAAATAAATT... | pathogenic | 269,037 |
Regarding the variant at chromosome 17 and position 31340488, affecting gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGA... | TAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGA... | benign | 269,047 |
Variant in NF1 (neurofibromin 1), chromosome 17, position 31340519—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Neurofibromatosis,_type_1'] | AAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAG... | AAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAG... | pathogenic | 269,055 |
Variant chromosome 17, position 31340528, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Neurofibromatosis,_type_1'] | AATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTT... | AATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTT... | pathogenic | 269,059 |
Regarding the variant at chromosome 17 and position 31340553, affecting gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Neurofibromatosis,_type_1'] | TGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTATAGAAAA... | TGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTATAGAAAA... | pathogenic | 269,063 |
Is the genetic mutation found on chromosome 17 at position 31340564, within the gene NF1 (neurofibromin 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | ATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTATAGAAAATGAGTGCATTC... | ATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTATAGAAAATGAGTGCATTC... | pathogenic | 269,067 |
Does the chromosome 17 mutation at position 31340574 within gene NF1 (neurofibromin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTATAGAAAATGAGTGCATTCATTTTGGGTA... | GTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTATAGAAAATGAGTGCATTCATTTTGGGTA... | pathogenic | 269,068 |
Gene NF1 (neurofibromin 1) variant at chromosome 17, position 31340616—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTATAGAAAATGAGTGCATTCATTTTGGGTATCAGTGTTGAATGTTACTTTCTTTCAAAGAGTTTAGAAAATA... | AGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTATAGAAAATGAGTGCATTCATTTTGGGTATCAGTGTTGAATGTTACTTTCTTTCAAAGAGTTTAGAAAATA... | pathogenic | 269,085 |
Variant at chromosome position 31340642, 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'] | CTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTATAGAAAATGAGTGCATTCATTTTGGGTATCAGTGTTGAATGTTACTTTCTTTCAAAGAGTTTAGAAAATAAGATGAATTGAGAATAAGTTATAAAG... | CTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTATAGAAAATGAGTGCATTCATTTTGGGTATCAGTGTTGAATGTTACTTTCTTTCAAAGAGTTTAGAAAATAAGATGAATTGAGAATAAGTTATAAAG... | pathogenic | 269,092 |
The genetic variant at chromosome 17, position 31340655, affecting gene NF1 (neurofibromin 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | AATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTATAGAAAATGAGTGCATTCATTTTGGGTATCAGTGTTGAATGTTACTTTCTTTCAAAGAGTTTAGAAAATAAGATGAATTGAGAATAAGTTATAAAGAAAAAACTATAGT... | AATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTATAGAAAATGAGTGCATTCATTTTGGGTATCAGTGTTGAATGTTACTTTCTTTCAAAGAGTTTAGAAAATAAGATGAATTGAGAATAAGTTATAAAGAAAAAACTATAGT... | benign | 269,095 |
Clinically, how would you classify the variant at chromosome 17, position 31343002, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CATGGTAATAATATTAATAGCTACCATGCCAGGCCGTATGCTAAACACTATACATTTATTTTTAATTTTCATAACCTTAAGGTAAAGGTTAGCATTCTCTGCCCCCCATTTCACACGTGAAGAAATAATCTAAAAGTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCC... | CATGGTAATAATATTAATAGCTACCATGCCAGGCCGTATGCTAAACACTATACATTTATTTTTAATTTTCATAACCTTAAGGTAAAGGTTAGCATTCTCTGCCCCCCATTTCACACGTGAAGAAATAATCTAAAAGTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCC... | benign | 269,096 |
Variant in gene NF1 (neurofibromin 1), located at chromosome 17 position 31343026: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CATGCCAGGCCGTATGCTAAACACTATACATTTATTTTTAATTTTCATAACCTTAAGGTAAAGGTTAGCATTCTCTGCCCCCCATTTCACACGTGAAGAAATAATCTAAAAGTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGACAG... | CATGCCAGGCCGTATGCTAAACACTATACATTTATTTTTAATTTTCATAACCTTAAGGTAAAGGTTAGCATTCTCTGCCCCCCATTTCACACGTGAAGAAATAATCTAAAAGTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGACAG... | pathogenic | 269,105 |
Considering the variant on chromosome 17, location 31343088, involving gene NF1 (neurofibromin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | GGTTAGCATTCTCTGCCCCCCATTTCACACGTGAAGAAATAATCTAAAAGTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCAGTTGAGCTCAGGAGTTAGAGAACAGCCTGGGCAACTTGCAAAACCCCATCTCTA... | GGTTAGCATTCTCTGCCCCCCATTTCACACGTGAAGAAATAATCTAAAAGTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCAGTTGAGCTCAGGAGTTAGAGAACAGCCTGGGCAACTTGCAAAACCCCATCTCTA... | pathogenic | 269,117 |
The genetic variant at chromosome 17, position 31343097, affecting gene NF1 (neurofibromin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TCTCTGCCCCCCATTTCACACGTGAAGAAATAATCTAAAAGTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCAGTTGAGCTCAGGAGTTAGAGAACAGCCTGGGCAACTTGCAAAACCCCATCTCTACAAAAAAGG... | TCTCTGCCCCCCATTTCACACGTGAAGAAATAATCTAAAAGTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCAGTTGAGCTCAGGAGTTAGAGAACAGCCTGGGCAACTTGCAAAACCCCATCTCTACAAAAAAGG... | pathogenic | 269,119 |
A mutation at chromosome position 31343097 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', 'NF1-related_disorder', 'Neurofibromatosis,_type_1', 'Rhabdomyosarcoma', 'Tibial_pseudarthrosis'] | TCTCTGCCCCCCATTTCACACGTGAAGAAATAATCTAAAAGTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCAGTTGAGCTCAGGAGTTAGAGAACAGCCTGGGCAACTTGCAAAACCCCATCTCTACAAAAAAGG... | TCTCTGCCCCCCATTTCACACGTGAAGAAATAATCTAAAAGTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCAGTTGAGCTCAGGAGTTAGAGAACAGCCTGGGCAACTTGCAAAACCCCATCTCTACAAAAAAGG... | pathogenic | 269,120 |
Assess the variant on chromosome 17, position 31343101, impacting NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | TGCCCCCCATTTCACACGTGAAGAAATAATCTAAAAGTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCAGTTGAGCTCAGGAGTTAGAGAACAGCCTGGGCAACTTGCAAAACCCCATCTCTACAAAAAAGGCAAA... | TGCCCCCCATTTCACACGTGAAGAAATAATCTAAAAGTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCAGTTGAGCTCAGGAGTTAGAGAACAGCCTGGGCAACTTGCAAAACCCCATCTCTACAAAAAAGGCAAA... | pathogenic | 269,121 |
Variant at chromosome position 31343126, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Neurofibromatosis,_type_1'] | ATAATCTAAAAGTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCAGTTGAGCTCAGGAGTTAGAGAACAGCCTGGGCAACTTGCAAAACCCCATCTCTACAAAAAAGGCAAAAATTAGCTAGGCATGGTGGCATGCA... | ATAATCTAAAAGTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCAGTTGAGCTCAGGAGTTAGAGAACAGCCTGGGCAACTTGCAAAACCCCATCTCTACAAAAAAGGCAAAAATTAGCTAGGCATGGTGGCATGCA... | pathogenic | 269,127 |
Benign or pathogenic: chromosome 17, position 31343130, gene NF1 (neurofibromin 1) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'NF1-related_disorder', 'Neurofibromatosis,_type_1'] | TCTAAAAGTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCAGTTGAGCTCAGGAGTTAGAGAACAGCCTGGGCAACTTGCAAAACCCCATCTCTACAAAAAAGGCAAAAATTAGCTAGGCATGGTGGCATGCACCTA... | TCTAAAAGTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCAGTTGAGCTCAGGAGTTAGAGAACAGCCTGGGCAACTTGCAAAACCCCATCTCTACAAAAAAGGCAAAAATTAGCTAGGCATGGTGGCATGCACCTA... | pathogenic | 269,129 |
Gene mutation in NF1 (neurofibromin 1) at chromosome 17, position 31343137—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCAGTTGAGCTCAGGAGTTAGAGAACAGCCTGGGCAACTTGCAAAACCCCATCTCTACAAAAAAGGCAAAAATTAGCTAGGCATGGTGGCATGCACCTACAATCCC... | GTAATCTTAGTTTTACTTAATAATGCCACTTAATGAAAAATACGTATAATTCATAGTAGATAAGGAAGTTGGAGAGTCTAAAGGAAACTTTTGGGTACTTAATTTTACTAGTTTTTTTATTCTGTCTAATCTTACTTTAAAATATACCATTAGTGGCCAGGAGTGGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCAGTTGAGCTCAGGAGTTAGAGAACAGCCTGGGCAACTTGCAAAACCCCATCTCTACAAAAAAGGCAAAAATTAGCTAGGCATGGTGGCATGCACCTACAATCCC... | benign | 269,134 |
Is the variant located on chromosome 17 at position 31349086, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CCCTGAAAGTCTTGGGAACCCCCTAAAGTCTTTTGGGAATCCTCAAAAAGCATGGGAAGTTAAGTATTTAGCTACATAAATGTTGTAAGATCATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTAT... | CCCTGAAAGTCTTGGGAACCCCCTAAAGTCTTTTGGGAATCCTCAAAAAGCATGGGAAGTTAAGTATTTAGCTACATAAATGTTGTAAGATCATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTAT... | benign | 269,138 |
Chromosome 17, position 31349086, gene NF1 (neurofibromin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CCCTGAAAGTCTTGGGAACCCCCTAAAGTCTTTTGGGAATCCTCAAAAAGCATGGGAAGTTAAGTATTTAGCTACATAAATGTTGTAAGATCATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTAT... | CCCTGAAAGTCTTGGGAACCCCCTAAAGTCTTTTGGGAATCCTCAAAAAGCATGGGAAGTTAAGTATTTAGCTACATAAATGTTGTAAGATCATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTAT... | benign | 269,139 |
Evaluate if the mutation on chromosome 17 at position 31349086 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CCCTGAAAGTCTTGGGAACCCCCTAAAGTCTTTTGGGAATCCTCAAAAAGCATGGGAAGTTAAGTATTTAGCTACATAAATGTTGTAAGATCATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTAT... | CCCTGAAAGTCTTGGGAACCCCCTAAAGTCTTTTGGGAATCCTCAAAAAGCATGGGAAGTTAAGTATTTAGCTACATAAATGTTGTAAGATCATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTAT... | benign | 269,140 |
Is the genetic mutation found on chromosome 17 at position 31349086, within the gene NF1 (neurofibromin 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CCCTGAAAGTCTTGGGAACCCCCTAAAGTCTTTTGGGAATCCTCAAAAAGCATGGGAAGTTAAGTATTTAGCTACATAAATGTTGTAAGATCATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTAT... | CCCTGAAAGTCTTGGGAACCCCCTAAAGTCTTTTGGGAATCCTCAAAAAGCATGGGAAGTTAAGTATTTAGCTACATAAATGTTGTAAGATCATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTAT... | benign | 269,141 |
Variant in NF1 (neurofibromin 1), chromosome 17, position 31349109—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TAAAGTCTTTTGGGAATCCTCAAAAAGCATGGGAAGTTAAGTATTTAGCTACATAAATGTTGTAAGATCATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAA... | TAAAGTCTTTTGGGAATCCTCAAAAAGCATGGGAAGTTAAGTATTTAGCTACATAAATGTTGTAAGATCATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAA... | benign | 269,143 |
Does the variant on chromosome 17 at location 31349138 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'] | TGGGAAGTTAAGTATTTAGCTACATAAATGTTGTAAGATCATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCA... | TGGGAAGTTAAGTATTTAGCTACATAAATGTTGTAAGATCATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCA... | pathogenic | 269,152 |
The chromosome 17, position 31349160 genetic variant in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | CATAAATGTTGTAAGATCATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGC... | CATAAATGTTGTAAGATCATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGC... | pathogenic | 269,156 |
Regarding the variant found on chromosome 17 at position 31349178 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'] | ATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAG... | ATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAG... | pathogenic | 269,158 |
Benign or pathogenic: chromosome 17, position 31349182, gene NF1 (neurofibromin 1) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | CTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATAC... | CTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATAC... | pathogenic | 269,159 |
Variant chromosome 17, position 31349195, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | GTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCA... | GTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCA... | pathogenic | 269,162 |
Considering the variant on chromosome 17, location 31349199, involving gene NF1 (neurofibromin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Neurofibromatosis,_type_1'] | TAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCATTCA... | TAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCATTCA... | pathogenic | 269,164 |
Evaluate this variant at chromosome 17, position 31349201, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Neurofibromatosis,_type_1'] | AGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCATTCATT... | AGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCATTCATT... | pathogenic | 269,165 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.