Gene: NF2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
dbSNP: rs1555993345
rs1555993345
NF2
T 0.700 CausalMutation CLINVAR [Phenotype-genotype study in 154 French NF2 mutation carriers]. 18033041

2007
dbSNP: rs1555993345
rs1555993345
NF2
T 0.700 CausalMutation CLINVAR Application of COLD-PCR for improved detection of NF2 mosaic mutations. 24815379

2014
dbSNP: rs1555993345
rs1555993345
NF2
T 0.700 CausalMutation CLINVAR High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons. 7711726

1995
dbSNP: rs1555993345
rs1555993345
NF2
T 0.700 CausalMutation CLINVAR A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene. 26066488

2015
dbSNP: rs1555993345
rs1555993345
NF2
T 0.700 CausalMutation CLINVAR Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2. 18670066

2008
dbSNP: rs1555993352
rs1555993352
NF2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555994819
rs1555994819
NF2
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1555994854
rs1555994854
NF2
A 0.700 GeneticVariation CLINVAR Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings. 16983642

2007
dbSNP: rs1555994854
rs1555994854
NF2
A 0.700 GeneticVariation CLINVAR Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. 9643284

1998
dbSNP: rs1555998851
rs1555998851
NF2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1556001351
rs1556001351
NF2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1556002457
rs1556002457
NF2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1556002536
rs1556002536
NF2
TG 0.700 GeneticVariation CLINVAR

dbSNP: rs1556002568
rs1556002568
NF2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1556003799
rs1556003799
NF2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1556003801
rs1556003801
NF2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569293488
rs1569293488
NF2
G 0.700 GeneticVariation CLINVAR Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. 9643284

1998
dbSNP: rs1569293488
rs1569293488
NF2
G 0.700 GeneticVariation CLINVAR Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings. 16983642

2007
dbSNP: rs1569302393
rs1569302393
NF2
A 0.700 CausalMutation CLINVAR Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings. 16983642

2007