Gene: NF1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801052
rs1801052
NF1
0.010 GeneticVariation BEFREE We reported a novel de novo c.6817delC deletion and rs1801052 polymorphism in NF1 gene associated with NF1 symptoms, as well as numerous polymorphisms in SPG7, SPG15, SPG39 genes responsible for benign spastic paraplegia. 31048186

2019
dbSNP: rs768366978
rs768366978
NF1
0.010 GeneticVariation BEFREE We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51. 22965773

2012
dbSNP: rs777369021
rs777369021
NF1
0.010 GeneticVariation BEFREE In this study we investigated the expression of exon 7 transcripts using bioinformatic identification of splicing regulatory sequences, and functional minigene analysis of four sequence changes [c.910C>T (R304X), c.945G>A/c.946C>A (Q315Q/L316M), c.1005T>C (N335N)] identified in exon 7 of three different NF1 patients. 17295913

2007
dbSNP: rs137854561
rs137854561
NF1
0.010 GeneticVariation BEFREE In the first family, a missense mutation (Leu2067Pro) in NF1 exon 33 was found, and, in the second, a splice-site mutation (IVS31-5A-->G) enlarging exon 32 by 4 bp at the 5' end was found. 11704931

2001
dbSNP: rs1060500254
rs1060500254
NF1
C 0.700 CausalMutation CLINVAR Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 29290338

2018
dbSNP: rs1555534966
rs1555534966
NF1
G 0.700 CausalMutation CLINVAR Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1. 29673180

2018
dbSNP: rs1555614229
rs1555614229
NF1
A 0.700 CausalMutation CLINVAR Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 29290338

2018
dbSNP: rs771820789
rs771820789
NF1
A 0.700 CausalMutation CLINVAR Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity. 29449315

2018
dbSNP: rs1064794274
rs1064794274
NF1
G 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs1135402850
rs1135402850
NF1
G 0.700 CausalMutation CLINVAR Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I. 28961165

2017
dbSNP: rs1187097568
rs1187097568
NF1
G 0.700 CausalMutation CLINVAR Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient. 28706617

2017
dbSNP: rs1555606053
rs1555606053
NF1
T 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs1555612288
rs1555612288
NF1
G 0.700 CausalMutation CLINVAR Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes. 28529006

2017
dbSNP: rs1567615941
rs1567615941
NF1
T 0.700 CausalMutation CLINVAR The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. 28068329

2017
dbSNP: rs397514641
rs397514641
NF1
T 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs786201367
rs786201367
NF1
T 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs786201874
rs786201874
NF1
C 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs876657715
rs876657715
NF1
TA 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs1057518807
rs1057518807
NF1
T 0.700 CausalMutation CLINVAR Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1. 27074763

2016
dbSNP: rs1057523533
rs1057523533
NF1
A 0.700 GeneticVariation CLINVAR Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1. 27074763

2016
dbSNP: rs1064794274
rs1064794274
NF1
G 0.700 CausalMutation CLINVAR Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. 27322474

2016
dbSNP: rs1064794277
rs1064794277
NF1
C 0.700 CausalMutation CLINVAR Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. 27322474

2016
dbSNP: rs1064794277
rs1064794277
NF1
A 0.700 GeneticVariation CLINVAR Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. 27322474

2016
dbSNP: rs1131691067
rs1131691067
NF1
G 0.700 CausalMutation CLINVAR Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene. 27999334

2016
dbSNP: rs1135402879
rs1135402879
NF1
G 0.700 CausalMutation CLINVAR Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children. 26458495

2016