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
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: 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: rs1555993313
rs1555993313
NF2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555993336
rs1555993336
NF2
T 0.700 CausalMutation CLINVAR [Phenotype-genotype study in 154 French NF2 mutation carriers]. 18033041

2007
dbSNP: rs1555993336
rs1555993336
NF2
T 0.700 CausalMutation CLINVAR The parental origin of new mutations in neurofibromatosis 2. 11085592

2000
dbSNP: rs1555993336
rs1555993336
NF2
T 0.700 CausalMutation CLINVAR What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors? 18173316

2008
dbSNP: rs1555993336
rs1555993336
NF2
T 0.700 CausalMutation CLINVAR Eleven novel mutations in the NF2 tumour suppressor gene. 7759081

1995
dbSNP: rs1555993336
rs1555993336
NF2
T 0.700 CausalMutation CLINVAR Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation. 27704245

2016
dbSNP: rs1555993336
rs1555993336
NF2
T 0.700 CausalMutation CLINVAR A point mutation associated with a severe phenotype of neurofibromatosis 2. 8797533

1996