Gene: NF1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516197
rs1057516197
NF1 ; MIR4733 ; LOC105371722
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517848
rs1057517848
NF1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057517967
rs1057517967
NF1
A 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: rs1057518326
rs1057518326
NF1
C 0.700 GeneticVariation 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: rs1057518326
rs1057518326
NF1
C 0.700 GeneticVariation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs1057518326
rs1057518326
NF1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518360
rs1057518360
NF1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518807
rs1057518807
NF1
T 0.700 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs1057518807
rs1057518807
NF1
T 0.700 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: rs1057518807
rs1057518807
NF1
T 0.700 CausalMutation CLINVAR Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1. 27074763

2016
dbSNP: rs1057518807
rs1057518807
NF1
T 0.700 CausalMutation CLINVAR Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene. 8837715

1996
dbSNP: rs1057518884
rs1057518884
NF1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518904
rs1057518904
NF1
G 0.700 CausalMutation CLINVAR Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469

2004
dbSNP: rs1057518904
rs1057518904
NF1
G 0.700 CausalMutation CLINVAR Molecular diagnosis of neurofibromatosis type 1: 2 years experience. 16944272

2007
dbSNP: rs1057518904
rs1057518904
NF1
G 0.700 CausalMutation CLINVAR Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. 7981679

1994
dbSNP: rs1057518904
rs1057518904
NF1
G 0.700 CausalMutation CLINVAR GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact. 23404336

2013
dbSNP: rs1057518904
rs1057518904
NF1
G 0.700 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366

2008
dbSNP: rs1057518904
rs1057518904
NF1
G 0.700 CausalMutation CLINVAR A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1. 26478990

2015
dbSNP: rs1057519369
rs1057519369
NF1
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1057519370
rs1057519370
NF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519370
rs1057519370
NF1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057521098
rs1057521098
NF1
G 0.700 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366

2008
dbSNP: rs1057523533
rs1057523533
NF1
A 0.700 GeneticVariation CLINVAR Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1. 27074763

2016
dbSNP: rs1057523533
rs1057523533
NF1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500242
rs1060500242
NF1
T 0.700 CausalMutation CLINVAR