Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030824
rs5030824
VHL
G 0.810 CausalMutation CLINVAR Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia. 23772956

2013
dbSNP: rs5030824
rs5030824
VHL
G 0.810 CausalMutation CLINVAR VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. 19228690

2009
dbSNP: rs5030824
rs5030824
VHL
G 0.810 CausalMutation CLINVAR Inadequate activation of the GTPase RhoA contributes to the lack of fibronectin matrix assembly in von Hippel-Lindau protein-defective renal cancer cells. 18567581

2008
dbSNP: rs5030824
rs5030824
VHL
G 0.810 CausalMutation CLINVAR Characterization of a von Hippel Lindau pathway involved in extracellular matrix remodeling, cell invasion, and angiogenesis. 16452184

2006
dbSNP: rs5030824
rs5030824
VHL
G 0.810 CausalMutation CLINVAR Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients. 15642680

2005
dbSNP: rs5030824
rs5030824
VHL
G 0.810 CausalMutation CLINVAR Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. 12844285

2003
dbSNP: rs5030824
rs5030824
VHL
G 0.810 CausalMutation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816

2002
dbSNP: rs5030824
rs5030824
VHL
G 0.810 CausalMutation CLINVAR VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. 12414898

2002
dbSNP: rs5030824
rs5030824
VHL
0.810 GeneticVariation BEFREE A type 2C pVHL mutant (V188L), which is associated with a PHE only phenotype (and had been shown previously to retain the ability to promote HIF ubiquitylation), retained the ability to suppress CCND1expression suggesting that loss of pVHL-mediated suppression of cyclin D1 is not necessary for PHE development in VHL disease. 12097293

2002
dbSNP: rs5030824
rs5030824
VHL
G 0.810 CausalMutation 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 0.810 CausalMutation 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 0.810 CausalMutation CLINVAR Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease. 8772572

1996
dbSNP: rs5030824
rs5030824
VHL
G 0.810 CausalMutation 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 0.810 CausalMutation 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
0.810 GeneticVariation UNIPROT