Gene: NF2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs121434259
rs121434259
NF2
T 0.700 CausalMutation CLINVAR Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy. 26073919

2018
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: 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: 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: rs74315504
rs74315504
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 Application of COLD-PCR for improved detection of NF2 mosaic mutations. 24815379

2014
dbSNP: rs74315504
rs74315504
NF2
T 0.700 CausalMutation CLINVAR Application of COLD-PCR for improved detection of NF2 mosaic mutations. 24815379

2014
dbSNP: rs1555986860
rs1555986860
NF2
A 0.700 CausalMutation CLINVAR Genetic and epigenetic alterations of the NF2 gene in sporadic vestibular schwannomas. 22295085

2012
dbSNP: rs764441073
rs764441073
NF2
0.700 GeneticVariation UNIPROT Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations. 20445339

2010
dbSNP: rs764441073
rs764441073
NF2
0.700 GeneticVariation UNIPROT Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus. 20178741

2010
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: 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: rs74315504
rs74315504
NF2
T 0.700 CausalMutation CLINVAR Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2. 18766994

2008
dbSNP: rs121434259
rs121434259
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 [Phenotype-genotype study in 154 French NF2 mutation carriers]. 18033041

2007
dbSNP: rs1555993345
rs1555993345
NF2
T 0.700 CausalMutation CLINVAR [Phenotype-genotype study in 154 French NF2 mutation carriers]. 18033041

2007
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: 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
dbSNP: rs1569304774
rs1569304774
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: rs74315504
rs74315504
NF2
T 0.700 CausalMutation CLINVAR [Phenotype-genotype study in 154 French NF2 mutation carriers]. 18033041

2007
dbSNP: rs74315504
rs74315504
NF2
T 0.700 CausalMutation CLINVAR Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. 12566519

2003
dbSNP: rs764441073
rs764441073
NF2
0.700 GeneticVariation UNIPROT Preimplantation diagnosis for neurofibromatosis. 12709270

2003
dbSNP: rs1555993336
rs1555993336
NF2
T 0.700 CausalMutation CLINVAR The parental origin of new mutations in neurofibromatosis 2. 11085592

2000