Gene: NF1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474743
rs199474743
NF1
G 0.800 CausalMutation CLINVAR Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population. 26056819

2015
dbSNP: rs199474746
rs199474746
NF1
A 0.800 CausalMutation CLINVAR A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1. 26478990

2015
dbSNP: rs199474747
rs199474747
NF1
G 0.800 CausalMutation CLINVAR A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1. 26478990

2015
dbSNP: rs199474748
rs199474748
NF1
A 0.800 CausalMutation CLINVAR The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features. 25211147

2015
dbSNP: rs199474730
rs199474730
NF1
C 0.800 GeneticVariation CLINVAR Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing. 24789688

2014
dbSNP: rs199474738
rs199474738
NF1
A 0.800 CausalMutation CLINVAR Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing. 24789688

2014
dbSNP: rs199474738
rs199474738
NF1
A 0.800 CausalMutation CLINVAR Neurofibromatosis type 1: a single center's experience in Korea. 25324867

2014
dbSNP: rs199474747
rs199474747
NF1
G 0.800 CausalMutation CLINVAR The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. 24413922

2014
dbSNP: rs199474747
rs199474747
NF1
G 0.800 CausalMutation CLINVAR The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25325900

2014
dbSNP: rs199474747
rs199474747
NF1
C 0.800 CausalMutation CLINVAR The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. 24413922

2014
dbSNP: rs137854556
rs137854556
NF1
A 0.800 CausalMutation CLINVAR Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 23047742

2013
dbSNP: rs137854556
rs137854556
NF1
C 0.800 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869

2013
dbSNP: rs137854556
rs137854556
NF1
A 0.800 CausalMutation CLINVAR Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. 23758643

2013
dbSNP: rs137854556
rs137854556
NF1
A 0.800 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869

2013
dbSNP: rs199474738
rs199474738
NF1
A 0.800 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs199474742
rs199474742
NF1
T 0.800 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869

2013
dbSNP: rs199474743
rs199474743
NF1
G 0.800 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs199474747
rs199474747
NF1
C 0.800 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869

2013
dbSNP: rs199474747
rs199474747
NF1
G 0.800 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869

2013
dbSNP: rs199474748
rs199474748
NF1
A 0.800 CausalMutation CLINVAR Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. 23812910

2013
dbSNP: rs199474761
rs199474761
NF1
C 0.800 GeneticVariation CLINVAR Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. 23758643

2013
dbSNP: rs199474761
rs199474761
NF1
C 0.800 GeneticVariation CLINVAR GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact. 23404336

2013
dbSNP: rs137854550
rs137854550
NF1
G 0.800 CausalMutation CLINVAR Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. 22807134

2012
dbSNP: rs137854550
rs137854550
NF1
G 0.800 CausalMutation CLINVAR Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? 23244495

2012
dbSNP: rs137854556
rs137854556
NF1
C 0.800 CausalMutation CLINVAR Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. 22807134

2012