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 |
|---|---|---|---|---|---|
Is the genetic mutation found on chromosome 17 at position 31235966, 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'] | CCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCACACCAGCTACCTTTCTGTCCCTCCTTGTTAGACTTATTTCTGCTTTAGAGCACCCTTGCTGCTGCCACCACCTGAAATGCTTCTCTTCTGGTATTTTATTTTGGTGAGAACACCTGGCATGAGATCTACCCTCTAACAGATTTTTAAGTGTATAATACAGTATTGCTGTCTGTAGGCACAATGCTGCACAGCAGATCTCTAGAACTTACCTTGTATAACTGAAATTTTATACTCATTG... | CCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCACACCAGCTACCTTTCTGTCCCTCCTTGTTAGACTTATTTCTGCTTTAGAGCACCCTTGCTGCTGCCACCACCTGAAATGCTTCTCTTCTGGTATTTTATTTTGGTGAGAACACCTGGCATGAGATCTACCCTCTAACAGATTTTTAAGTGTATAATACAGTATTGCTGTCTGTAGGCACAATGCTGCACAGCAGATCTCTAGAACTTACCTTGTATAACTGAAATTTTATACTCATTG... | pathogenic | 268,088 |
Chromosome 17, position 31236058, gene NF1 (neurofibromin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CTTTCTGTCCCTCCTTGTTAGACTTATTTCTGCTTTAGAGCACCCTTGCTGCTGCCACCACCTGAAATGCTTCTCTTCTGGTATTTTATTTTGGTGAGAACACCTGGCATGAGATCTACCCTCTAACAGATTTTTAAGTGTATAATACAGTATTGCTGTCTGTAGGCACAATGCTGCACAGCAGATCTCTAGAACTTACCTTGTATAACTGAAATTTTATACTCATTGATTAGCAACAGCCCCAAATTATTGAAACCTCCTTGAAGCCTAAATTTCAGAAATGTTCAAATGTTTTGAAAATGGATATTCTGAATTATCTT... | CTTTCTGTCCCTCCTTGTTAGACTTATTTCTGCTTTAGAGCACCCTTGCTGCTGCCACCACCTGAAATGCTTCTCTTCTGGTATTTTATTTTGGTGAGAACACCTGGCATGAGATCTACCCTCTAACAGATTTTTAAGTGTATAATACAGTATTGCTGTCTGTAGGCACAATGCTGCACAGCAGATCTCTAGAACTTACCTTGTATAACTGAAATTTTATACTCATTGATTAGCAACAGCCCCAAATTATTGAAACCTCCTTGAAGCCTAAATTTCAGAAATGTTCAAATGTTTTGAAAATGGATATTCTGAATTATCTT... | benign | 268,107 |
Does the chromosome 17 mutation at position 31248995 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'] | AGCACTTTGGGAGGCTGAGGTGGGCAGATCATAAGGTCAAGAGATCTAGACCATGCCGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCA... | AGCACTTTGGGAGGCTGAGGTGGGCAGATCATAAGGTCAAGAGATCTAGACCATGCCGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCA... | pathogenic | 268,118 |
Mutation found at chromosome 17 position 31248999, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CTTTGGGAGGCTGAGGTGGGCAGATCATAAGGTCAAGAGATCTAGACCATGCCGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGA... | CTTTGGGAGGCTGAGGTGGGCAGATCATAAGGTCAAGAGATCTAGACCATGCCGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGA... | pathogenic | 268,120 |
Clinical classification of chromosome 17, position 31249009, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | CTGAGGTGGGCAGATCATAAGGTCAAGAGATCTAGACCATGCCGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAAT... | CTGAGGTGGGCAGATCATAAGGTCAAGAGATCTAGACCATGCCGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAAT... | pathogenic | 268,122 |
Gene NF1 (neurofibromin 1) variant at chromosome position 31249049 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neurofibromatosis,_type_1'] | GCCGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGA... | GCCGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGA... | pathogenic | 268,130 |
A genetic variant at chromosome 17, position 31249073, 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', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | TCTCTACTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGAGCACATGATAAGACATAAGAGTAC... | TCTCTACTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGAGCACATGATAAGACATAAGAGTAC... | pathogenic | 268,135 |
Gene NF1 (neurofibromin 1) variant at chromosome position 31249077 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | TACTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGAGCACATGATAAGACATAAGAGTACGAGG... | TACTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGAGCACATGATAAGACATAAGAGTACGAGG... | pathogenic | 268,137 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 31249079, gene NF1 (neurofibromin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | CTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGAGCACATGATAAGACATAAGAGTACGAGGAA... | CTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGAGCACATGATAAGACATAAGAGTACGAGGAA... | pathogenic | 268,138 |
Evaluate if the mutation on chromosome 17 at position 31249079 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGAGCACATGATAAGACATAAGAGTACGAGGAA... | CTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGAGCACATGATAAGACATAAGAGTACGAGGAA... | pathogenic | 268,139 |
A mutation at chromosome position 31249115 on chromosome 17 in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Neurofibromatosis,_type_1'] | GCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGAGCACATGATAAGACATAAGAGTACGAGGAAAAATCAGTTAATTTGGGGCATACTGATTTTTAGATA... | GCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGAGCACATGATAAGACATAAGAGTACGAGGAAAAATCAGTTAATTTGGGGCATACTGATTTTTAGATA... | pathogenic | 268,148 |
Is the genetic change at chromosome 17, position 31249117, within gene NF1 (neurofibromin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGAGCACATGATAAGACATAAGAGTACGAGGAAAAATCAGTTAATTTGGGGCATACTGATTTTTAGATACC... | GCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGAGCACATGATAAGACATAAGAGTACGAGGAAAAATCAGTTAATTTGGGGCATACTGATTTTTAGATACC... | pathogenic | 268,151 |
Mutation found at chromosome 17 position 31249118, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | CCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGAGCACATGATAAGACATAAGAGTACGAGGAAAAATCAGTTAATTTGGGGCATACTGATTTTTAGATACCA... | CCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGAGCACATGATAAGACATAAGAGTACGAGGAAAAATCAGTTAATTTGGGGCATACTGATTTTTAGATACCA... | pathogenic | 268,152 |
Variant at chromosome position 31249133, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | ACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGAGCACATGATAAGACATAAGAGTACGAGGAAAAATCAGTTAATTTGGGGCATACTGATTTTTAGATACCAGTGGGGAGGGGACAT... | ACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAGTGATAGTGCTATTGATAACATAGAGCACATGATAAGACATAAGAGTACGAGGAAAAATCAGTTAATTTGGGGCATACTGATTTTTAGATACCAGTGGGGAGGGGACAT... | benign | 268,157 |
A genetic alteration at chromosome 17, position 31258333, in gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GGCTCCACCATGTCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTTTCGAACTCCTAGCCTCAAGTGATCTGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGG... | GGCTCCACCATGTCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTTTCGAACTCCTAGCCTCAAGTGATCTGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGG... | benign | 268,162 |
Benign or pathogenic: chromosome 17, position 31258342, gene NF1 (neurofibromin 1) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATGTCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTTTCGAACTCCTAGCCTCAAGTGATCTGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACC... | ATGTCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTTTCGAACTCCTAGCCTCAAGTGATCTGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACC... | pathogenic | 268,164 |
Is the genetic change at chromosome 17, position 31258376, within gene NF1 (neurofibromin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GGGGTTTTGCCATGTTGGCCAGGCTGGTTTCGAACTCCTAGCCTCAAGTGATCTGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCT... | GGGGTTTTGCCATGTTGGCCAGGCTGGTTTCGAACTCCTAGCCTCAAGTGATCTGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCT... | pathogenic | 268,170 |
Located at chromosome 17 position 31258430, 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'] | GCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAAT... | GCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAAT... | pathogenic | 268,185 |
Variant at chromosome position 31258432, 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'] | CCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGT... | CCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGT... | pathogenic | 268,186 |
For chromosome 17, position 31258479, 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'] | GCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTC... | GCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTC... | pathogenic | 268,200 |
Assess the variant on chromosome 17, position 31258501, impacting NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Neurofibromatosis,_type_1'] | GATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAGT... | GATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAGT... | pathogenic | 268,209 |
Clinically, how would you classify the variant at chromosome 17, position 31259029, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Neurofibromatosis,_type_1'] | ATTTTGAGGTTATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAAC... | ATTTTGAGGTTATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAAC... | pathogenic | 268,218 |
Evaluate the clinical significance of the mutation at chromosome 17, position 31259065 in gene NF1 (neurofibromin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Neurofibromatosis,_type_1'] | TGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGA... | TGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGA... | pathogenic | 268,236 |
Determine whether the variant at chromosome 17, position 31259068, in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'NF1-related_disorder', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | GGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGAT... | GGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGAT... | pathogenic | 268,241 |
Chromosome 17, position 31259085, gene NF1 (neurofibromin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Neurofibromatosis,_type_1'] | ACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGATTAAAATGTTACATTAAG... | ACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGATTAAAATGTTACATTAAG... | pathogenic | 268,248 |
Evaluate this variant at chromosome 17, position 31259101, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | AGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGATTAAAATGTTACATTAAGTGTTCTTTAAAAATGA... | AGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGATTAAAATGTTACATTAAGTGTTCTTTAAAAATGA... | pathogenic | 268,249 |
Is the variant located on chromosome 17 at position 31259141, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGATTAAAATGTTACATTAAGTGTTCTTTAAAAATGAACATATATAGTATATATAAAAATGTAAACTGCAAAATATA... | CAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGATTAAAATGTTACATTAAGTGTTCTTTAAAAATGAACATATATAGTATATATAAAAATGTAAACTGCAAAATATA... | benign | 268,257 |
Chromosome 17, position 31260369, gene NF1 (neurofibromin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AATTCTCAACTCCTTGTTTTTAGGTGGTTAGCCAGCGTTTCCCTCAGAACAGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTA... | AATTCTCAACTCCTTGTTTTTAGGTGGTTAGCCAGCGTTTCCCTCAGAACAGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTA... | pathogenic | 268,264 |
Determine if the mutation at chromosome 17, position 31260369 in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Neurofibromatosis,_type_1'] | AATTCTCAACTCCTTGTTTTTAGGTGGTTAGCCAGCGTTTCCCTCAGAACAGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTA... | AATTCTCAACTCCTTGTTTTTAGGTGGTTAGCCAGCGTTTCCCTCAGAACAGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTA... | pathogenic | 268,265 |
Gene NF1 (neurofibromin 1) variant at chromosome position 31260381 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neurofibromatosis,_type_1'] | CTTGTTTTTAGGTGGTTAGCCAGCGTTTCCCTCAGAACAGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGA... | CTTGTTTTTAGGTGGTTAGCCAGCGTTTCCCTCAGAACAGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGA... | pathogenic | 268,267 |
For chromosome 17, position 31260418, gene NF1 (neurofibromin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Neurofibromatosis,_type_1'] | CAGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCAT... | CAGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCAT... | pathogenic | 268,275 |
Variant on chromosome 17, at position 31260421, affecting NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGAT... | CATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGAT... | pathogenic | 268,277 |
Evaluate if the mutation on chromosome 17 at position 31260424 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | CGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAA... | CGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAA... | pathogenic | 268,278 |
Is the genetic mutation found on chromosome 17 at position 31260424, within the gene NF1 (neurofibromin 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | CGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAA... | CGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAA... | pathogenic | 268,279 |
Does the variant impacting NF1 (neurofibromin 1) on chromosome 17, position 31260451, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | CAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAAACATTTTATTATAGCAGATGTCTTGTG... | CAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAAACATTTTATTATAGCAGATGTCTTGTG... | pathogenic | 268,285 |
Determine whether the variant at chromosome 17, position 31260455, in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | TTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAAACATTTTATTATAGCAGATGTCTTGTGTTAT... | TTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAAACATTTTATTATAGCAGATGTCTTGTGTTAT... | pathogenic | 268,286 |
Evaluate this variant at chromosome 17, position 31260458, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Neurofibromatosis,_type_1'] | ATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAAACATTTTATTATAGCAGATGTCTTGTGTTATGAA... | ATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAAACATTTTATTATAGCAGATGTCTTGTGTTATGAA... | pathogenic | 268,287 |
A genetic variant on chromosome 17, position 31260461, 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'] | AATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAAACATTTTATTATAGCAGATGTCTTGTGTTATGAAGAT... | AATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAAACATTTTATTATAGCAGATGTCTTGTGTTATGAAGAT... | pathogenic | 268,288 |
Variant on chromosome 17, at position 31260462, affecting NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAAACATTTTATTATAGCAGATGTCTTGTGTTATGAAGATC... | ATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAAACATTTTATTATAGCAGATGTCTTGTGTTATGAAGATC... | pathogenic | 268,289 |
Determine whether the variant at chromosome 17, position 31260498, in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAAACATTTTATTATAGCAGATGTCTTGTGTTATGAAGATCATTTTTTGCGTAATCATTCTAGACATTCTGAAACAG... | TAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAAACATTTTATTATAGCAGATGTCTTGTGTTATGAAGATCATTTTTTGCGTAATCATTCTAGACATTCTGAAACAG... | pathogenic | 268,301 |
Evaluate if the mutation on chromosome 17 at position 31261690 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | ATAACTAGTTATTTCACTTTATTTCTCTGAGTTATTGGTCTATCTGTAAAGTAGGGATAAACTCTTTGCCTGAGTTGTTTTTAGAGAAAAAAATGAGATAATTCATAAGAAAGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCA... | ATAACTAGTTATTTCACTTTATTTCTCTGAGTTATTGGTCTATCTGTAAAGTAGGGATAAACTCTTTGCCTGAGTTGTTTTTAGAGAAAAAAATGAGATAATTCATAAGAAAGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCA... | pathogenic | 268,310 |
Evaluate the clinical significance of the mutation at chromosome 17, position 31261713 in gene NF1 (neurofibromin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Neurofibromatosis,_type_1'] | TCTCTGAGTTATTGGTCTATCTGTAAAGTAGGGATAAACTCTTTGCCTGAGTTGTTTTTAGAGAAAAAAATGAGATAATTCATAAGAAAGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCT... | TCTCTGAGTTATTGGTCTATCTGTAAAGTAGGGATAAACTCTTTGCCTGAGTTGTTTTTAGAGAAAAAAATGAGATAATTCATAAGAAAGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCT... | pathogenic | 268,315 |
Determine whether the variant at chromosome 17, position 31261735, in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | GTAAAGTAGGGATAAACTCTTTGCCTGAGTTGTTTTTAGAGAAAAAAATGAGATAATTCATAAGAAAGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAA... | GTAAAGTAGGGATAAACTCTTTGCCTGAGTTGTTTTTAGAGAAAAAAATGAGATAATTCATAAGAAAGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAA... | pathogenic | 268,320 |
Chromosome 17, position 31261737, gene NF1 (neurofibromin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AAAGTAGGGATAAACTCTTTGCCTGAGTTGTTTTTAGAGAAAAAAATGAGATAATTCATAAGAAAGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGG... | AAAGTAGGGATAAACTCTTTGCCTGAGTTGTTTTTAGAGAAAAAAATGAGATAATTCATAAGAAAGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGG... | pathogenic | 268,321 |
Is the genetic variant on chromosome 17, position 31261770, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Neurofibromatosis,_type_1'] | TTAGAGAAAAAAATGAGATAATTCATAAGAAAGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAATCCTGGCTCTGACCTAGCAG... | TTAGAGAAAAAAATGAGATAATTCATAAGAAAGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAATCCTGGCTCTGACCTAGCAG... | pathogenic | 268,329 |
Does the chromosome 17 mutation at position 31261789 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'] | AATTCATAAGAAAGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAATCCTGGCTCTGACCTAGCAGGCTATATATCTTTGGGGAG... | AATTCATAAGAAAGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAATCCTGGCTCTGACCTAGCAGGCTATATATCTTTGGGGAG... | pathogenic | 268,333 |
The mutation in gene NF1 (neurofibromin 1) at chromosome 17, position 31261801—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAATCCTGGCTCTGACCTAGCAGGCTATATATCTTTGGGGAGGTCTTTCGTCTG... | AGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAATCCTGGCTCTGACCTAGCAGGCTATATATCTTTGGGGAGGTCTTTCGTCTG... | pathogenic | 268,337 |
Evaluate if the mutation on chromosome 17 at position 31261815 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAATCCTGGCTCTGACCTAGCAGGCTATATATCTTTGGGGAGGTCTTTCGTCTGGACCTTCATTTCCT... | TTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAATCCTGGCTCTGACCTAGCAGGCTATATATCTTTGGGGAGGTCTTTCGTCTGGACCTTCATTTCCT... | pathogenic | 268,342 |
Considering the variant on chromosome 17, location 31261825, 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'] | AATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAATCCTGGCTCTGACCTAGCAGGCTATATATCTTTGGGGAGGTCTTTCGTCTGGACCTTCATTTCCTTATCTGTAAA... | AATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAATCCTGGCTCTGACCTAGCAGGCTATATATCTTTGGGGAGGTCTTTCGTCTGGACCTTCATTTCCTTATCTGTAAA... | pathogenic | 268,343 |
The mutation in gene NF1 (neurofibromin 1) at chromosome 17, position 31261827—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['NF1-related_disorder', 'Neurofibromatosis,_type_1'] | TTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAATCCTGGCTCTGACCTAGCAGGCTATATATCTTTGGGGAGGTCTTTCGTCTGGACCTTCATTTCCTTATCTGTAAAAT... | TTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAATCCTGGCTCTGACCTAGCAGGCTATATATCTTTGGGGAGGTCTTTCGTCTGGACCTTCATTTCCTTATCTGTAAAAT... | pathogenic | 268,344 |
Determine whether the variant at chromosome 17, position 31261837, in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAATCCTGGCTCTGACCTAGCAGGCTATATATCTTTGGGGAGGTCTTTCGTCTGGACCTTCATTTCCTTATCTGTAAAATACTAGCCTCT... | CATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAATCCTGGCTCTGACCTAGCAGGCTATATATCTTTGGGGAGGTCTTTCGTCTGGACCTTCATTTCCTTATCTGTAAAATACTAGCCTCT... | pathogenic | 268,351 |
Variant on chromosome 17, at position 31261851, affecting NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | CTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAATCCTGGCTCTGACCTAGCAGGCTATATATCTTTGGGGAGGTCTTTCGTCTGGACCTTCATTTCCTTATCTGTAAAATACTAGCCTCTTTCCAAAGTTTCAT... | CTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAATCCTGGCTCTGACCTAGCAGGCTATATATCTTTGGGGAGGTCTTTCGTCTGGACCTTCATTTCCTTATCTGTAAAATACTAGCCTCTTTCCAAAGTTTCAT... | pathogenic | 268,352 |
Gene NF1 (neurofibromin 1) variant at chromosome position 31265246 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neurofibromatosis,_type_1'] | TGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGACCACCCTGGGCAACATAGCAGGACTCCATCTCTACAAATAATAAAATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAAT... | TGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGACCACCCTGGGCAACATAGCAGGACTCCATCTCTACAAATAATAAAATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAAT... | pathogenic | 268,366 |
Is the genetic mutation found on chromosome 17 at position 31265253, 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'] | CCAAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGACCACCCTGGGCAACATAGCAGGACTCCATCTCTACAAATAATAAAATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAATCAAAACA... | CCAAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGACCACCCTGGGCAACATAGCAGGACTCCATCTCTACAAATAATAAAATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAATCAAAACA... | pathogenic | 268,369 |
The mutation in gene NF1 (neurofibromin 1) at chromosome 17, position 31265261—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | GGAGGATTGCTTGAGCCCAGGAGTTTGAGACCACCCTGGGCAACATAGCAGGACTCCATCTCTACAAATAATAAAATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAATCAAAACAGTTTTTAA... | GGAGGATTGCTTGAGCCCAGGAGTTTGAGACCACCCTGGGCAACATAGCAGGACTCCATCTCTACAAATAATAAAATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAATCAAAACAGTTTTTAA... | pathogenic | 268,372 |
Gene NF1 (neurofibromin 1) variant at chromosome position 31265265 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neurofibromatosis,_type_1'] | GATTGCTTGAGCCCAGGAGTTTGAGACCACCCTGGGCAACATAGCAGGACTCCATCTCTACAAATAATAAAATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAATCAAAACAGTTTTTAAATTT... | GATTGCTTGAGCCCAGGAGTTTGAGACCACCCTGGGCAACATAGCAGGACTCCATCTCTACAAATAATAAAATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAATCAAAACAGTTTTTAAATTT... | pathogenic | 268,373 |
A genetic variant on chromosome 17, position 31265265, affects the gene NF1 (neurofibromin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GATTGCTTGAGCCCAGGAGTTTGAGACCACCCTGGGCAACATAGCAGGACTCCATCTCTACAAATAATAAAATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAATCAAAACAGTTTTTAAATTT... | GATTGCTTGAGCCCAGGAGTTTGAGACCACCCTGGGCAACATAGCAGGACTCCATCTCTACAAATAATAAAATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAATCAAAACAGTTTTTAAATTT... | pathogenic | 268,374 |
Considering the variant on chromosome 17, location 31265278, 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'] | CAGGAGTTTGAGACCACCCTGGGCAACATAGCAGGACTCCATCTCTACAAATAATAAAATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAATCAAAACAGTTTTTAAATTTGACATCACTGAGG... | CAGGAGTTTGAGACCACCCTGGGCAACATAGCAGGACTCCATCTCTACAAATAATAAAATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAATCAAAACAGTTTTTAAATTTGACATCACTGAGG... | pathogenic | 268,378 |
Determine whether the variant at chromosome 17, position 31265317, in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CATCTCTACAAATAATAAAATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAATCAAAACAGTTTTTAAATTTGACATCACTGAGGACATCCTAGCCATTTTTCTAGAAAAATATTTTTATTATT... | CATCTCTACAAATAATAAAATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAATCAAAACAGTTTTTAAATTTGACATCACTGAGGACATCCTAGCCATTTTTCTAGAAAAATATTTTTATTATT... | pathogenic | 268,387 |
Mutation at chromosome 17, position 31265317, within NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | CATCTCTACAAATAATAAAATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAATCAAAACAGTTTTTAAATTTGACATCACTGAGGACATCCTAGCCATTTTTCTAGAAAAATATTTTTATTATT... | CATCTCTACAAATAATAAAATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAATCAAAACAGTTTTTAAATTTGACATCACTGAGGACATCCTAGCCATTTTTCTAGAAAAATATTTTTATTATT... | pathogenic | 268,388 |
Gene NF1 (neurofibromin 1) variant at chromosome position 31325853 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'] | TTTCACTGACTGCCCAGTTTGTGTTAATCTCTCTCTCTCTCTCCTTTGTCTTAATAACAGTATTTTCTCTGCATTTCCTTTGATAAGTGATTACTTTCTACCTCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAG... | TTTCACTGACTGCCCAGTTTGTGTTAATCTCTCTCTCTCTCTCCTTTGTCTTAATAACAGTATTTTCTCTGCATTTCCTTTGATAAGTGATTACTTTCTACCTCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAG... | pathogenic | 268,419 |
Does the variant on chromosome 17 at location 31325867 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', 'Neurofibromatosis-Noonan_syndrome'] | CAGTTTGTGTTAATCTCTCTCTCTCTCTCCTTTGTCTTAATAACAGTATTTTCTCTGCATTTCCTTTGATAAGTGATTACTTTCTACCTCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAG... | CAGTTTGTGTTAATCTCTCTCTCTCTCTCCTTTGTCTTAATAACAGTATTTTCTCTGCATTTCCTTTGATAAGTGATTACTTTCTACCTCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAG... | pathogenic | 268,426 |
Benign or pathogenic: chromosome 17, position 31325873, gene NF1 (neurofibromin 1) variant? Disease(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | GTGTTAATCTCTCTCTCTCTCTCCTTTGTCTTAATAACAGTATTTTCTCTGCATTTCCTTTGATAAGTGATTACTTTCTACCTCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACT... | GTGTTAATCTCTCTCTCTCTCTCCTTTGTCTTAATAACAGTATTTTCTCTGCATTTCCTTTGATAAGTGATTACTTTCTACCTCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACT... | pathogenic | 268,429 |
Does the variant on chromosome 17 at location 31325911 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'] | AGTATTTTCTCTGCATTTCCTTTGATAAGTGATTACTTTCTACCTCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCT... | AGTATTTTCTCTGCATTTCCTTTGATAAGTGATTACTTTCTACCTCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCT... | pathogenic | 268,440 |
Clinical classification of chromosome 17, position 31325928, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TCCTTTGATAAGTGATTACTTTCTACCTCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCT... | TCCTTTGATAAGTGATTACTTTCTACCTCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCT... | pathogenic | 268,448 |
Classify the chromosome 17 variant at position 31325955 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'] | TCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCC... | TCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCC... | pathogenic | 268,452 |
Chromosome 17, position 31325957, gene NF1 (neurofibromin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCA... | ATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCA... | pathogenic | 268,453 |
A genetic alteration at chromosome 17, position 31325963, in gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | TCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAAT... | TCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAAT... | pathogenic | 268,455 |
Classify the chromosome 17 variant at position 31325963 affecting gene NF1 (neurofibromin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | TCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAAT... | TCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAAT... | pathogenic | 268,456 |
Variant in gene NF1 (neurofibromin 1), located at chromosome 17 position 31325970: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | TGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTA... | TGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTA... | pathogenic | 268,459 |
Clinical classification of chromosome 17, position 31325977, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cafe-au-lait_spot', 'Neurofibromatosis,_type_1'] | TTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAG... | TTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAG... | pathogenic | 268,460 |
Benign or pathogenic: chromosome 17, position 31326012, gene NF1 (neurofibromin 1) variant? Disease(s) if pathogenic? | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | TTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGT... | TTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGT... | pathogenic | 268,470 |
Clinical significance of chromosome 17, position 31326013, gene NF1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | TTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTC... | TTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTC... | pathogenic | 268,471 |
Variant on chromosome 17, at position 31326017, affecting NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGA... | TCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGA... | pathogenic | 268,472 |
Determine if the mutation at chromosome 17, position 31326023 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'] | TTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCT... | TTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCT... | pathogenic | 268,475 |
Determine if the mutation at chromosome 17, position 31326027 in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cafe_au_lait_spots,_multiple', '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_pseudart... | TCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACC... | TCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACC... | pathogenic | 268,478 |
A genetic variant on chromosome 17, position 31326029, affects the gene NF1 (neurofibromin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Neurofibromatosis,_type_1'] | CCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACCTC... | CCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACCTC... | pathogenic | 268,479 |
Does the variant impacting NF1 (neurofibromin 1) on chromosome 17, position 31326140, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neurofibromatosis,_type_1'] | GAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACCATGCCCTGCCTGTATGTGTGATATTTTGATACATGCATATAATGTGTAATGATTA... | GAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACCATGCCCTGCCTGTATGTGTGATATTTTGATACATGCATATAATGTGTAATGATTA... | pathogenic | 268,500 |
Is the genetic change at chromosome 17, position 31326141, within gene NF1 (neurofibromin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | AATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACCATGCCCTGCCTGTATGTGTGATATTTTGATACATGCATATAATGTGTAATGATTAA... | AATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACCATGCCCTGCCTGTATGTGTGATATTTTGATACATGCATATAATGTGTAATGATTAA... | pathogenic | 268,501 |
The mutation impacting NF1 (neurofibromin 1) on chromosome 17 at position 31326228: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | CCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACCATGCCCTGCCTGTATGTGTGATATTTTGATACATGCATATAATGTGTAATGATTAAATCAGGGTGATTAGGATATCCATTGCCTCAAAGAAAAGAAATTGTTTCGTCTAGCTGTTTTGAAATATACAATGTTATTATTAACTA... | CCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACCATGCCCTGCCTGTATGTGTGATATTTTGATACATGCATATAATGTGTAATGATTAAATCAGGGTGATTAGGATATCCATTGCCTCAAAGAAAAGAAATTGTTTCGTCTAGCTGTTTTGAAATATACAATGTTATTATTAACTA... | pathogenic | 268,519 |
Does the variant impacting NF1 (neurofibromin 1) on chromosome 17, position 31326241, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neurofibromatosis,_type_1'] | AGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACCATGCCCTGCCTGTATGTGTGATATTTTGATACATGCATATAATGTGTAATGATTAAATCAGGGTGATTAGGATATCCATTGCCTCAAAGAAAAGAAATTGTTTCGTCTAGCTGTTTTGAAATATACAATGTTATTATTAACTAGTCACCTTACTAT... | AGTAGCTGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACCATGCCCTGCCTGTATGTGTGATATTTTGATACATGCATATAATGTGTAATGATTAAATCAGGGTGATTAGGATATCCATTGCCTCAAAGAAAAGAAATTGTTTCGTCTAGCTGTTTTGAAATATACAATGTTATTATTAACTAGTCACCTTACTAT... | pathogenic | 268,523 |
Variant at chromosome 17, position 31326247, 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'] | TGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACCATGCCCTGCCTGTATGTGTGATATTTTGATACATGCATATAATGTGTAATGATTAAATCAGGGTGATTAGGATATCCATTGCCTCAAAGAAAAGAAATTGTTTCGTCTAGCTGTTTTGAAATATACAATGTTATTATTAACTAGTCACCTTACTATGAATAG... | TGGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACCATGCCCTGCCTGTATGTGTGATATTTTGATACATGCATATAATGTGTAATGATTAAATCAGGGTGATTAGGATATCCATTGCCTCAAAGAAAAGAAATTGTTTCGTCTAGCTGTTTTGAAATATACAATGTTATTATTAACTAGTCACCTTACTATGAATAG... | pathogenic | 268,524 |
A genetic variant on chromosome 17, position 31326248, 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'] | GGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACCATGCCCTGCCTGTATGTGTGATATTTTGATACATGCATATAATGTGTAATGATTAAATCAGGGTGATTAGGATATCCATTGCCTCAAAGAAAAGAAATTGTTTCGTCTAGCTGTTTTGAAATATACAATGTTATTATTAACTAGTCACCTTACTATGAATAGT... | GGGGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACCATGCCCTGCCTGTATGTGTGATATTTTGATACATGCATATAATGTGTAATGATTAAATCAGGGTGATTAGGATATCCATTGCCTCAAAGAAAAGAAATTGTTTCGTCTAGCTGTTTTGAAATATACAATGTTATTATTAACTAGTCACCTTACTATGAATAGT... | pathogenic | 268,525 |
Does the variant impacting NF1 (neurofibromin 1) on chromosome 17, position 31326250, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neurofibromatosis,_type_1'] | GGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACCATGCCCTGCCTGTATGTGTGATATTTTGATACATGCATATAATGTGTAATGATTAAATCAGGGTGATTAGGATATCCATTGCCTCAAAGAAAAGAAATTGTTTCGTCTAGCTGTTTTGAAATATACAATGTTATTATTAACTAGTCACCTTACTATGAATAGTAG... | GGCTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTAGTCTTGACCTCCTGACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACCATGCCCTGCCTGTATGTGTGATATTTTGATACATGCATATAATGTGTAATGATTAAATCAGGGTGATTAGGATATCCATTGCCTCAAAGAAAAGAAATTGTTTCGTCTAGCTGTTTTGAAATATACAATGTTATTATTAACTAGTCACCTTACTATGAATAGTAG... | pathogenic | 268,526 |
Clinically, how would you classify the variant at chromosome 17, position 31327497, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Neurofibromatosis,_type_1'] | GGATTGGCTAAAACCATCTCACTCCAGAGCTCCAGATGGGTCATTCCTACCAGACTATTCGCCTAAGGAGTTTGGTGGGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATA... | GGATTGGCTAAAACCATCTCACTCCAGAGCTCCAGATGGGTCATTCCTACCAGACTATTCGCCTAAGGAGTTTGGTGGGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATA... | pathogenic | 268,542 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 31327539, gene NF1 (neurofibromin 1): what disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATTCCTACCAGACTATTCGCCTAAGGAGTTTGGTGGGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCAT... | ATTCCTACCAGACTATTCGCCTAAGGAGTTTGGTGGGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCAT... | pathogenic | 268,554 |
Does the genetic variant at chromosome 17, position 31327558, impacting gene NF1 (neurofibromin 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CCTAAGGAGTTTGGTGGGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACT... | CCTAAGGAGTTTGGTGGGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACT... | pathogenic | 268,563 |
A genetic variant on chromosome 17, position 31327561, affects the gene NF1 (neurofibromin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Neurofibromatosis,_type_1', 'likely other unspecified diseases'] | AAGGAGTTTGGTGGGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGT... | AAGGAGTTTGGTGGGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGT... | pathogenic | 268,564 |
Determine if the mutation at chromosome 17, position 31327574 in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Neurofibromatosis,_type_1'] | GGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTG... | GGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTG... | pathogenic | 268,566 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 31327584, gene NF1 (neurofibromin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGAT... | GCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGAT... | pathogenic | 268,568 |
Does the chromosome 17 mutation at position 31327603 within gene NF1 (neurofibromin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Neurofibromatosis,_type_1'] | TGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACT... | TGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACT... | pathogenic | 268,572 |
Clinically, how would you classify the variant at chromosome 17, position 31327632, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Neurofibromatosis,_type_1'] | AATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGA... | AATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGA... | pathogenic | 268,578 |
A genetic variant on chromosome 17, position 31327644, 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'] | TTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGA... | TTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGA... | pathogenic | 268,580 |
Clinical classification of chromosome 17, position 31327660, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | TTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGG... | TTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGG... | pathogenic | 268,583 |
Is the variant located on chromosome 17 at position 31327698, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTG... | TTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTG... | pathogenic | 268,588 |
The genetic variant at chromosome 17, position 31327715, affecting gene NF1 (neurofibromin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | ACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTG... | ACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTG... | pathogenic | 268,593 |
The chromosome 17, position 31327724 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'] | TTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTT... | TTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTT... | pathogenic | 268,601 |
Evaluate this variant at chromosome 17, position 31327741, 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'] | ACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCA... | ACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCA... | pathogenic | 268,609 |
Located at chromosome 17 position 31327745, the variant affecting gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Neurofibromatosis,_type_1'] | TGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCT... | TGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCT... | pathogenic | 268,611 |
Clinical significance of chromosome 17, position 31327757, gene NF1 (neurofibromin 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Neurofibromatosis,_type_1'] | TTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACT... | TTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACT... | pathogenic | 268,616 |
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