Gene: VHL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893825
rs104893825
VHL
T 0.700 CausalMutation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
dbSNP: rs104893825
rs104893825
VHL
T 0.700 CausalMutation CLINVAR Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. 8730290

1996
dbSNP: rs104893825
rs104893825
VHL
T 0.700 CausalMutation CLINVAR Genetic analysis of von Hippel-Lindau disease. 20151405

2010
dbSNP: rs104893825
rs104893825
VHL
T 0.700 CausalMutation CLINVAR Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 19336503

2009
dbSNP: rs104893825
rs104893825
VHL
T 0.700 CausalMutation CLINVAR Molecular analysis of the Von Hippel-Lindau (VHL) gene in a family with non-syndromic pheochromocytoma: the importance of genetic testing. 18209888

2007
dbSNP: rs104893825
rs104893825
VHL
T 0.700 CausalMutation CLINVAR Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein. 10587522

1999
dbSNP: rs104893825
rs104893825
VHL
T 0.700 CausalMutation CLINVAR Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 12202531

2002
dbSNP: rs104893825
rs104893825
VHL
T 0.700 CausalMutation CLINVAR Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene. 8550742

1996
dbSNP: rs104893826
rs104893826
VHL
C 0.700 CausalMutation CLINVAR Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease. 24555745

2014
dbSNP: rs104893826
rs104893826
VHL
C 0.700 CausalMutation CLINVAR Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome. 19808854

2009
dbSNP: rs104893826
rs104893826
VHL
C 0.700 CausalMutation CLINVAR Germline mutations in the vhl gene in patients presenting with phaeochromocytomas. 9663592

1998
dbSNP: rs104893826
rs104893826
VHL
C 0.700 CausalMutation CLINVAR Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 19336503

2009
dbSNP: rs104893826
rs104893826
VHL
C 0.700 CausalMutation CLINVAR Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population. 21463266

2011
dbSNP: rs104893826
rs104893826
VHL
C 0.700 CausalMutation CLINVAR von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. 11331612

2001
dbSNP: rs104893826
rs104893826
VHL
C 0.700 CausalMutation CLINVAR Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. 17661816

2007
dbSNP: rs104893830
rs104893830
VHL
C 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. 15300849

2004
dbSNP: rs104893830
rs104893830
VHL
C 0.700 CausalMutation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
dbSNP: rs104893830
rs104893830
VHL
C 0.700 CausalMutation CLINVAR Mutations in the VHL gene in sporadic apparently congenital polycythemia. 12393546

2003
dbSNP: rs104893830
rs104893830
VHL
C 0.700 CausalMutation CLINVAR Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients. 24581539

2014
dbSNP: rs104893830
rs104893830
VHL
C 0.700 CausalMutation CLINVAR Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 12202531

2002
dbSNP: rs104893831
rs104893831
VHL
A 0.700 CausalMutation CLINVAR Dissecting fragment-based lead discovery at the von Hippel-Lindau protein:hypoxia inducible factor 1α protein-protein interface. 23102223

2012
dbSNP: rs104893831
rs104893831
VHL
A 0.700 CausalMutation CLINVAR Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469

2011
dbSNP: rs104893831
rs104893831
VHL
A 0.700 CausalMutation CLINVAR The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension. 24729484

2014
dbSNP: rs1131690954
rs1131690954
VHL
G 0.700 CausalMutation CLINVAR Role of cortical sparing adrenalectomy and novel variant of mutation in patient with von Hippel-Lindau disease. 22145147

2011
dbSNP: rs1131690954
rs1131690954
VHL
G 0.700 CausalMutation CLINVAR Detection of large deletions in the VHL gene using a Real-Time PCR with SYBR Green. 23397066

2013