Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma. 18584357

2008
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing. 9452032

1998
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein. 10587522

1999
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911

1998
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Hypoxia-inducible factor-2alpha regulates the expression of TRAIL receptor DR5 in renal cancer cells. 18544564

2008
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR VHL promotes E2 box-dependent E-cadherin transcription by HIF-mediated regulation of SIP1 and snail. 17060462

2007
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein. 10878807

2000
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma. 10458336

1999
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Diverse effects of mutations in exon II of the von Hippel-Lindau (VHL) tumor suppressor gene on the interaction of pVHL with the cytosolic chaperonin and pVHL-dependent ubiquitin ligase activity. 11865071

2002
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. 19228690

2009
dbSNP: rs397516444
rs397516444
VHL
A 0.800 CausalMutation CLINVAR

dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online. 10627136

1998
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing. 9452032

1998
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912

1998
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. 8730290

1996
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. 10408776

1999
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. 8825918

1995
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Identification of the von Hippel-Lindau disease tumor suppressor gene. 8493574

1993
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306

1994
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. 10533030

1999