NF2, neurofibromin 2, 4771

N. diseases: 312; N. variants: 54
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434261
rs121434261
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		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
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		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
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs121434261
rs121434261
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		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
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		0.810 GeneticVariation UNIPROT Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus. 20178741 2010
dbSNP: rs121434261
rs121434261
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		0.810 GeneticVariation UNIPROT Preimplantation diagnosis for neurofibromatosis. 12709270 2003
dbSNP: rs121434261
rs121434261
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		0.810 GeneticVariation UNIPROT Detection of novel NF2 mutations by an RNA mismatch cleavage method. 10790209 2000
dbSNP: rs121434261
rs121434261
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		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
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		0.810 GeneticVariation UNIPROT Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities. 10090912 1999
dbSNP: rs121434261
rs121434261
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		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
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		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
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		0.810 GeneticVariation UNIPROT Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas. 8698340 1996
dbSNP: rs121434261
rs121434261
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		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
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		0.810 GeneticVariation UNIPROT Eleven novel mutations in the NF2 tumour suppressor gene. 7759081 1995
dbSNP: rs121434261
rs121434261
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		0.810 GeneticVariation UNIPROT Diagnostic issues in a family with late onset type 2 neurofibromatosis. 7666400 1995
dbSNP: rs121434261
rs121434261
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		0.810 GeneticVariation UNIPROT Mutational analysis of patients with neurofibromatosis 2. 7913580 1994
dbSNP: rs121434261
rs121434261
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		0.810 GeneticVariation UNIPROT Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. 8081368 1994
dbSNP: rs121434261
rs121434261
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		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
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		C 0.810 CausalMutation CLINVAR
dbSNP: rs74315492
rs74315492
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		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
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		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
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		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
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		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
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		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
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease:
Neurofibromatosis 2 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015