Gene: NF1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs953440640
rs953440640
NF1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs948982039
rs948982039
NF1
G 0.700 CausalMutation CLINVAR

dbSNP: rs915463951
rs915463951
NF1
G 0.700 CausalMutation CLINVAR

dbSNP: rs894292181
rs894292181
NF1
T 0.700 CausalMutation CLINVAR NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. 11857752

2002
dbSNP: rs886041348
rs886041348
NF1
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs886041347
rs886041347
NF1
0.710 GeneticVariation BEFREE The genetic analysis of our patient revealed neither mutation in the neurofibromatosis 1-guanosine triphosphatase-activating protein-related domain nor the R816X nonsense mutation. 12661943

2003
dbSNP: rs886041347
rs886041347
NF1
T 0.710 CausalMutation CLINVAR Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469

2004
dbSNP: rs886041347
rs886041347
NF1
T 0.710 GeneticVariation CLINVAR

dbSNP: rs886041347
rs886041347
NF1
T 0.710 CausalMutation CLINVAR Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. 9475595

1998
dbSNP: rs886041347
rs886041347
NF1
T 0.710 CausalMutation CLINVAR Immunohistochemical NF1 analysis does not predict NF1 gene mutation status in pheochromocytoma. 25403449

2015
dbSNP: rs886041347
rs886041347
NF1
T 0.710 CausalMutation CLINVAR Germline and somatic NF1 gene mutations in plexiform neurofibromas. 18484666

2008
dbSNP: rs886041347
rs886041347
NF1
T 0.710 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: rs886041347
rs886041347
NF1
T 0.710 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869

2013
dbSNP: rs886041347
rs886041347
NF1
T 0.710 CausalMutation CLINVAR Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. 9150739

1997
dbSNP: rs886041347
rs886041347
NF1
T 0.710 CausalMutation CLINVAR Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours. 19142971

2009
dbSNP: rs886041346
rs886041346
NF1 ; MIR4733 ; LOC105371722
A 0.700 GeneticVariation CLINVAR

dbSNP: rs886039548
rs886039548
NF1
A 0.700 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: rs886039548
rs886039548
NF1
T 0.700 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs886039548
rs886039548
NF1
A 0.700 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs886039548
rs886039548
NF1
A 0.700 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366

2008
dbSNP: rs886039548
rs886039548
NF1
T 0.700 CausalMutation CLINVAR Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? 25074460

2015
dbSNP: rs886039548
rs886039548
NF1
T 0.700 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: rs886039548
rs886039548
NF1
A 0.700 CausalMutation CLINVAR Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. 12807981

2003
dbSNP: rs886039548
rs886039548
NF1
T 0.700 CausalMutation CLINVAR Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption. 17311297

2007
dbSNP: rs886039548
rs886039548
NF1
T 0.700 CausalMutation CLINVAR Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population. 26056819

2015