Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia. 23772956

2013
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes. 19602254

2009
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. 19228690

2009
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR VHL type 2B mutations retain VBC complex form and function. 19030229

2008
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene. 18836774

2008
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR Characterization of a von Hippel Lindau pathway involved in extracellular matrix remodeling, cell invasion, and angiogenesis. 16452184

2006
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients. 15642680

2005
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816

2002
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. 11331612

2001
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe. 8707293

1996
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease. 8772572

1996
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. 7563486

1995
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306

1994
dbSNP: rs5030824
rs5030824
VHL
G 0.700 CausalMutation CLINVAR