Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus. 20178741

2010

dbSNP: rs121434261
rs121434261
NF2
0.810 CausalMutation CLINVAR Paxillin binds schwannomin and regulates its density-dependent localization and effect on cell morphology. 12118253

2002

dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT Detection of novel NF2 mutations by an RNA mismatch cleavage method. 10790209

2000

dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. 9643284

1998

dbSNP: rs121434261
rs121434261
NF2
0.810 CausalMutation CLINVAR A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes. 8757035

1996

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: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. 8081368

1994

dbSNP: rs121434261
rs121434261
NF2
0.810 CausalMutation CLINVAR Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. 8081368

1994

dbSNP: rs74315493
rs74315493
NF2
0.800 GeneticVariation UNIPROT Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. 9643284

1998

dbSNP: rs74315494
rs74315494
NF2
0.800 CausalMutation CLINVAR A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. 8566958

1996

dbSNP: rs74315494
rs74315494
NF2
0.800 GeneticVariation UNIPROT A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. 8566958

1996

dbSNP: rs74315493
rs74315493
NF2
0.800 GeneticVariation UNIPROT Eleven novel mutations in the NF2 tumour suppressor gene. 7759081

1995

dbSNP: rs74315493
rs74315493
NF2
0.800 GeneticVariation UNIPROT Diagnostic issues in a family with late onset type 2 neurofibromatosis. 7666400

1995

dbSNP: rs74315493
rs74315493
NF2
0.800 CausalMutation CLINVAR Diagnostic issues in a family with late onset type 2 neurofibromatosis. 7666400

1995

dbSNP: rs74315492
rs74315492
NF2
0.800 CausalMutation CLINVAR Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. 8379998

1993

dbSNP: rs74315492
rs74315492
NF2
0.800 CausalMutation CLINVAR Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis. 4000972

1985

dbSNP: rs74315492
rs74315492
NF2
0.800 GeneticVariation UNIPROT

dbSNP: rs1060503666
rs1060503666
NF2
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs1060503667
rs1060503667
NF2
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs1060503670
rs1060503670
NF2
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs74315499
rs74315499
NF2
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs74315504
rs74315504
NF2
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs878853925
rs878853925
NF2
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs917257652
rs917257652
NF2
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs74315504
rs74315504
NF2
0.700 CausalMutation CLINVAR A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene. 26066488

2016