Gene: NF1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500245
rs1060500245
NF1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500252
rs1060500252
NF1 ; MIR4733 ; LOC105371722
G 0.700 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs1060500252
rs1060500252
NF1 ; MIR4733 ; LOC105371722
G 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869

2013
dbSNP: rs1060500254
rs1060500254
NF1
C 0.700 CausalMutation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2014
dbSNP: rs1060500254
rs1060500254
NF1
C 0.700 CausalMutation CLINVAR Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1. 24932921

2014
dbSNP: rs1060500254
rs1060500254
NF1
C 0.700 CausalMutation CLINVAR Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 29290338

2018
dbSNP: rs1060500255
rs1060500255
NF1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060500266
rs1060500266
NF1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500268
rs1060500268
NF1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060500271
rs1060500271
NF1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060500273
rs1060500273
NF1
A 0.700 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs1060500273
rs1060500273
NF1
C 0.700 CausalMutation CLINVAR Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome. 24357598

2014
dbSNP: rs1060500273
rs1060500273
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: rs1060500273
rs1060500273
NF1
A 0.700 CausalMutation CLINVAR Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome. 24357598

2014
dbSNP: rs1060500273
rs1060500273
NF1
C 0.700 CausalMutation CLINVAR Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene. 8829638

1996
dbSNP: rs1060500273
rs1060500273
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: rs1060500273
rs1060500273
NF1
A 0.700 CausalMutation CLINVAR Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene. 8829638

1996
dbSNP: rs1060500273
rs1060500273
NF1
C 0.700 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs1060500273
rs1060500273
NF1
C 0.700 CausalMutation CLINVAR Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma. 22962301

2012
dbSNP: rs1060500274
rs1060500274
NF1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060500274
rs1060500274
NF1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500276
rs1060500276
NF1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500278
rs1060500278
NF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060500284
rs1060500284
NF1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500286
rs1060500286
NF1
A 0.700 CausalMutation CLINVAR