Gene: NF2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation BEFREE We identified a missense mutation (T185-->C, Phe62-->Ser) in the neurofibromatosis 2 (NF2) gene in a family with mild and severe NF2 phenotypes. 8757035

1996
dbSNP: rs1351350515
rs1351350515
NF2
0.010 GeneticVariation BEFREE NF2 mutation was investigated using Qbiomarker Somatic Mutation PCR Assay at NF2 mRNA level after its cDNA extraction (four mRNA mutation cytoband coordinates for nucleotide change: c.634C>T/p.Q212, c.655G>A/p.V219M, c.784C>T/p.R262 and c.1228C>T/p.Q410). 31024808

2019
dbSNP: rs121434261
rs121434261
NF2
C 0.810 CausalMutation CLINVAR

dbSNP: rs74315492
rs74315492
NF2
C 0.800 CausalMutation CLINVAR

dbSNP: rs74315493
rs74315493
NF2
C 0.800 CausalMutation CLINVAR

dbSNP: rs74315494
rs74315494
NF2
C 0.800 CausalMutation CLINVAR

dbSNP: rs1060503666
rs1060503666
NF2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060503667
rs1060503667
NF2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060503670
rs1060503670
NF2
G 0.700 CausalMutation CLINVAR

dbSNP: rs121434259
rs121434259
NF2
T 0.700 CausalMutation CLINVAR Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. 8379998

1993
dbSNP: rs121434259
rs121434259
NF2
T 0.700 CausalMutation CLINVAR Molecular characterization of germline mutations in neurofibromatosis 2 in two families. 9884492

1998
dbSNP: rs121434259
rs121434259
NF2
T 0.700 CausalMutation CLINVAR [Phenotype-genotype study in 154 French NF2 mutation carriers]. 18033041

2007
dbSNP: rs121434259
rs121434259
NF2
T 0.700 CausalMutation CLINVAR Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes. 8882871

1996
dbSNP: rs121434259
rs121434259
NF2
T 0.700 CausalMutation CLINVAR Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy. 26073919

2018
dbSNP: rs121434260
rs121434260
NF2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555978356
rs1555978356
NF2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555978369
rs1555978369
NF2
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs1555986860
rs1555986860
NF2
A 0.700 CausalMutation CLINVAR Genetic and epigenetic alterations of the NF2 gene in sporadic vestibular schwannomas. 22295085

2012
dbSNP: rs1555986860
rs1555986860
NF2
A 0.700 CausalMutation CLINVAR Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation. 27704245

2016
dbSNP: rs1555986860
rs1555986860
NF2
A 0.700 CausalMutation CLINVAR Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. 9643284

1998
dbSNP: rs1555987647
rs1555987647
NF2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555987732
rs1555987732
NF2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555992948
rs1555992948
NF2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555993301
rs1555993301
NF2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555993313
rs1555993313
NF2
A 0.700 CausalMutation CLINVAR