Gene: NF1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854563
rs137854563
NF1
G 0.700 GeneticVariation CLINVAR Independent NF1 mutations in two large families with spinal neurofibromatosis. 12566521

2003
dbSNP: rs137854563
rs137854563
NF1
G 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: rs1555533875
rs1555533875
NF1
C 0.700 GeneticVariation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2014
dbSNP: rs1555534379
rs1555534379
NF1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555613206
rs1555613206
NF1
A 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: rs1555613206
rs1555613206
NF1
A 0.700 GeneticVariation CLINVAR Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. 16835897

2006
dbSNP: rs1555613741
rs1555613741
NF1
C 0.700 GeneticVariation CLINVAR Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population. 26056819

2015
dbSNP: rs1555613932
rs1555613932
NF1
A 0.700 GeneticVariation CLINVAR 126 novel mutations in Italian patients with neurofibromatosis type 1. 26740943

2015
dbSNP: rs1555613932
rs1555613932
NF1
A 0.700 GeneticVariation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366

2008
dbSNP: rs1555614914
rs1555614914
NF1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555618489
rs1555618489
NF1
G 0.700 GeneticVariation CLINVAR Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. 22155606

2011
dbSNP: rs1555618656
rs1555618656
NF1
G 0.700 GeneticVariation CLINVAR Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. 22807134

2012
dbSNP: rs1555618656
rs1555618656
NF1
G 0.700 GeneticVariation CLINVAR A highly sensitive genetic protocol to detect NF1 mutations. 21354044

2011
dbSNP: rs1555618656
rs1555618656
NF1
G 0.700 GeneticVariation CLINVAR Structural fingerprints of the Ras-GTPase activating proteins neurofibromin and p120GAP. 12787671

2003
dbSNP: rs1555618656
rs1555618656
NF1
G 0.700 GeneticVariation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs1555618656
rs1555618656
NF1
G 0.700 GeneticVariation CLINVAR NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. 16380919

2005
dbSNP: rs1555618656
rs1555618656
NF1
G 0.700 GeneticVariation CLINVAR Identification of neurofibromin mutants that exhibit allele specificity or increased Ras affinity resulting in suppression of activated ras alleles. 8628317

1996
dbSNP: rs1555618656
rs1555618656
NF1
G 0.700 GeneticVariation CLINVAR Structural analysis of the GAP-related domain from neurofibromin and its implications. 9687500

1998
dbSNP: rs1555619391
rs1555619391
NF1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs199474741
rs199474741
NF1
G 0.700 GeneticVariation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs199474741
rs199474741
NF1
G 0.700 GeneticVariation CLINVAR Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 23047742

2013
dbSNP: rs199474741
rs199474741
NF1
G 0.700 GeneticVariation 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: rs199474741
rs199474741
NF1
G 0.700 GeneticVariation CLINVAR 126 novel mutations in Italian patients with neurofibromatosis type 1. 26740943

2015
dbSNP: rs199474741
rs199474741
NF1
G 0.700 GeneticVariation CLINVAR Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome. 22664660

2012
dbSNP: rs199474741
rs199474741
NF1
G 0.700 GeneticVariation CLINVAR A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. 17103458

2006