Gene: NF2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs74315504
rs74315504
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 What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors? 18173316

2008
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: rs1569304774
rs1569304774
NF2
A 0.700 GeneticVariation CLINVAR Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. 8755919

1996
dbSNP: rs1555993336
rs1555993336
NF2
T 0.700 CausalMutation CLINVAR The parental origin of new mutations in neurofibromatosis 2. 11085592

2000
dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs74315492
rs74315492
NF2
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs74315493
rs74315493
NF2
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs74315494
rs74315494
NF2
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT Preimplantation diagnosis for neurofibromatosis. 12709270

2003
dbSNP: rs74315492
rs74315492
NF2
0.800 GeneticVariation UNIPROT Preimplantation diagnosis for neurofibromatosis. 12709270

2003
dbSNP: rs74315493
rs74315493
NF2
0.800 GeneticVariation UNIPROT Preimplantation diagnosis for neurofibromatosis. 12709270

2003
dbSNP: rs74315494
rs74315494
NF2
0.800 GeneticVariation UNIPROT Preimplantation diagnosis for neurofibromatosis. 12709270

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

2003
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: 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: 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