Gene: VHL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease. 24707167

2014
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR We report here an atypical family bearing two VHL gene mutations in cis (R200W and R161Q), together with phenotypic analysis, structural modeling, functional, and transcriptomic studies of these mutants in comparison with classical mutants involved in the different VHL phenotypes. 25371412

2014
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees. 23842656

2013
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564

2011
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR Molecular basis of von Hippel-Lindau syndrome in Chinese patients. 21362373

2011
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. 15300849

2004
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816

2002
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911

1998
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia. 21606165

2011
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis. 19494350

2009
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR VHL type 2B mutations retain VBC complex form and function. 19030229

2008
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis. 17992257

2007
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster. 16210343

2006
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations. 15574766

2004
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. 14726398

2004
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR Endemic polycythemia in Russia: mutation in the VHL gene. 11987242

2003
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR The gene associated with von Hippel-Lindau syndrome, VHL, maps to this region, and homozygosity with respect to a C-->T missense mutation in VHL, causing an arginine-to-tryptophan change at amino-acid residue 200 (Arg200Trp), was identified in all individuals affected with Chuvash polycythemia. 12415268

2002
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR Congenital polycythemia in Chuvashia. 9058738

1997
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
dbSNP: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients. 28388566

2017
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience. 28469506

2017
dbSNP: rs730882034
rs730882034
VHL
G 0.810 CausalMutation CLINVAR Coexistence of VHL Disease and CPT2 Deficiency: A Case Report. 27034144

2016
dbSNP: rs730882034
rs730882034
VHL
G 0.810 CausalMutation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016
dbSNP: rs730882034
rs730882034
VHL
G 0.810 CausalMutation CLINVAR Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family. 27057652

2016