Gene: NF1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474750
rs199474750
NF1
C 0.810 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366

2008
dbSNP: rs199474750
rs199474750
NF1
A 0.810 GeneticVariation CLINVAR

dbSNP: rs137854550
rs137854550
NF1
G 0.800 CausalMutation CLINVAR Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. 14722917

2004
dbSNP: rs137854550
rs137854550
NF1
C 0.800 GeneticVariation CLINVAR

dbSNP: rs137854550
rs137854550
NF1
G 0.800 CausalMutation CLINVAR Somatic mutations in the neurofibromatosis 1 gene in human tumors. 1568247

1992
dbSNP: rs137854550
rs137854550
NF1
G 0.800 CausalMutation CLINVAR NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. 16380919

2005
dbSNP: rs137854550
rs137854550
NF1
G 0.800 CausalMutation CLINVAR Functional significance of lysine 1423 of neurofibromin and characterization of a second site suppressor which rescues mutations at this residue and suppresses RAS2Val-19-activated phenotypes. 8264648

1994
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 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: rs137854550
rs137854550
NF1
G 0.800 CausalMutation CLINVAR The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs). 16786508

2006
dbSNP: rs137854550
rs137854550
NF1
C 0.800 CausalMutation CLINVAR

dbSNP: rs137854550
rs137854550
NF1
G 0.800 CausalMutation CLINVAR NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. 11857752

2002
dbSNP: rs137854550
rs137854550
NF1
G 0.800 CausalMutation CLINVAR Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. 9003501

1997
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: rs137854550
rs137854550
NF1
G 0.800 CausalMutation CLINVAR Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. 22155606

2011
dbSNP: rs137854551
rs137854551
NF1
A 0.800 CausalMutation CLINVAR

dbSNP: rs137854553
rs137854553
NF1
G 0.800 CausalMutation CLINVAR

dbSNP: rs137854553
rs137854553
NF1
G 0.800 GeneticVariation CLINVAR Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. 8807336

1996
dbSNP: rs137854554
rs137854554
NF1
T 0.800 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: rs137854554
rs137854554
NF1
T 0.800 CausalMutation CLINVAR

dbSNP: rs137854554
rs137854554
NF1
T 0.800 GeneticVariation CLINVAR Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. 9003501

1997
dbSNP: rs137854556
rs137854556
NF1
A 0.800 CausalMutation CLINVAR The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1. 16479075

2006
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
A 0.800 CausalMutation CLINVAR Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer. 24951259

2015
dbSNP: rs137854556
rs137854556
NF1
A 0.800 CausalMutation CLINVAR Individual rate constants for the interaction of Ras proteins with GTPase-activating proteins determined by fluorescence spectroscopy. 9109662

1997