Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015

dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013

dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations. 20445339

2010

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 GeneticVariation UNIPROT Preimplantation diagnosis for neurofibromatosis. 12709270

2003

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 Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins. 10669747

2000

dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities. 10090912

1999

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 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 Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas. 8698340

1996

dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. 8566958

1996

dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT Eleven novel mutations in the NF2 tumour suppressor gene. 7759081

1995

dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT Diagnostic issues in a family with late onset type 2 neurofibromatosis. 7666400

1995

dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT Mutational analysis of patients with neurofibromatosis 2. 7913580

1994

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 GeneticVariation UNIPROT DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree. 8230593

1993

dbSNP: rs121434261
rs121434261
NF2
C 0.810 CausalMutation CLINVAR

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: rs74315492
rs74315492
NF2
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015

dbSNP: rs74315493
rs74315493
NF2
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015

dbSNP: rs74315494
rs74315494
NF2
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015