Gene: NF1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 9668168

1998
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
C 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 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 Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer. 24951259

2015
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 Individual rate constants for the interaction of Ras proteins with GTPase-activating proteins determined by fluorescence spectroscopy. 9109662

1997
dbSNP: rs137854556
rs137854556
NF1
C 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 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 Confirmation of the arginine-finger hypothesis for the GAP-stimulated GTP-hydrolysis reaction of Ras. 9302992

1997
dbSNP: rs137854556
rs137854556
NF1
C 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
C 0.800 CausalMutation CLINVAR Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 9668168

1998
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 Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. 23758643

2013
dbSNP: rs137854557
rs137854557
NF1
G 0.800 CausalMutation CLINVAR Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. 10607834

2000
dbSNP: rs137854557
rs137854557
NF1
G 0.800 CausalMutation CLINVAR Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. 11258625

2001
dbSNP: rs137854557
rs137854557
NF1
G 0.800 CausalMutation CLINVAR Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. 10862084

2000
dbSNP: rs137854557
rs137854557
NF1
G 0.800 CausalMutation CLINVAR Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations. 10543400

1999
dbSNP: rs137854558
rs137854558
NF1
C 0.800 CausalMutation CLINVAR

dbSNP: rs137854563
rs137854563
NF1
C 0.800 CausalMutation CLINVAR

dbSNP: rs137854564
rs137854564
NF1
C 0.800 CausalMutation CLINVAR

dbSNP: rs137854566
rs137854566
NF1
G 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: rs137854566
rs137854566
NF1
G 0.800 CausalMutation CLINVAR NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1. 10980545

2000