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
A 0.810 GeneticVariation CLINVAR

dbSNP: rs137854551
rs137854551
NF1
A 0.800 CausalMutation CLINVAR

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
dbSNP: rs137854556
rs137854556
NF1
A 0.800 CausalMutation CLINVAR The importance of two conserved arginine residues for catalysis by the ras GTPase-activating protein, neurofibromin. 9545275

1998
dbSNP: rs137854556
rs137854556
NF1
A 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: 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 The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. 19221814

2009
dbSNP: rs137854556
rs137854556
NF1
A 0.800 CausalMutation CLINVAR Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. 15060124

2004
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: rs137854556
rs137854556
NF1
A 0.800 CausalMutation CLINVAR Confirmation of the arginine-finger hypothesis for the GAP-stimulated GTP-hydrolysis reaction of Ras. 9302992

1997
dbSNP: rs137854556
rs137854556
NF1
A 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: rs137854556
rs137854556
NF1
A 0.800 CausalMutation CLINVAR Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. 10712197

2000
dbSNP: rs137854556
rs137854556
NF1
A 0.800 CausalMutation CLINVAR Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 9668168

1998
dbSNP: rs199474728
rs199474728
NF1
A 0.800 GeneticVariation CLINVAR

dbSNP: rs199474728
rs199474728
NF1
A 0.800 CausalMutation CLINVAR

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: 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 Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1. 15863657

2005
dbSNP: rs199474738
rs199474738
NF1
A 0.800 CausalMutation CLINVAR Neurofibromatosis type 1: a single center's experience in Korea. 25324867

2014
dbSNP: rs199474738
rs199474738
NF1
A 0.800 CausalMutation CLINVAR Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. 15060124

2004
dbSNP: rs199474738
rs199474738
NF1
A 0.800 CausalMutation CLINVAR Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. 12807981

2003
dbSNP: rs199474738
rs199474738
NF1
A 0.800 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366

2008