Gene: NF1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691071
rs1131691071
NF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691072
rs1131691072
NF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691073
rs1131691073
NF1
T 0.700 CausalMutation CLINVAR A highly sensitive genetic protocol to detect NF1 mutations. 21354044

2011
dbSNP: rs1131691074
rs1131691074
NF1
A 0.700 CausalMutation CLINVAR Congenital pseudarthrosis of neurofibromatosis type 1: impaired osteoblast differentiation and function and altered NF1 gene expression. 19061981

2009
dbSNP: rs1131691075
rs1131691075
NF1
A 0.700 CausalMutation CLINVAR Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas. 11431704

2001
dbSNP: rs1131691076
rs1131691076
NF1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1131691078
rs1131691078
NF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691080
rs1131691080
NF1
T 0.700 CausalMutation CLINVAR A new NF1 variant in a patient with atypical manifestations. 23322702

2013
dbSNP: rs1131691080
rs1131691080
NF1
T 0.700 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366

2008
dbSNP: rs1131691080
rs1131691080
NF1
T 0.700 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs1131691081
rs1131691081
NF1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1131691082
rs1131691082
NF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691083
rs1131691083
NF1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1131691084
rs1131691084
NF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691085
rs1131691085
NF1
A 0.700 CausalMutation CLINVAR Molecular diagnosis of neurofibromatosis type 1: 2 years experience. 16944272

2007
dbSNP: rs1131691087
rs1131691087
NF1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1131691088
rs1131691088
NF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691089
rs1131691089
NF1
G 0.700 CausalMutation CLINVAR Germline and somatic NF1 gene mutations in plexiform neurofibromas. 18484666

2008
dbSNP: rs1131691089
rs1131691089
NF1
G 0.700 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs1131691090
rs1131691090
NF1
G 0.700 CausalMutation CLINVAR Molecular diagnosis of neurofibromatosis type 1: 2 years experience. 16944272

2007
dbSNP: rs1131691091
rs1131691091
NF1
G 0.700 CausalMutation CLINVAR Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. 16835897

2006
dbSNP: rs1131691092
rs1131691092
NF1
C 0.700 CausalMutation CLINVAR Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH. 21031597

2011
dbSNP: rs1131691092
rs1131691092
NF1
C 0.700 CausalMutation CLINVAR High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1. 16138229

2005
dbSNP: rs1131691092
rs1131691092
NF1
C 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: rs1131691092
rs1131691092
NF1
C 0.700 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366

2008