Gene: VHL ×
Source: INFERRED ×
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 Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. 15300849

2004
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 Germ-line mutations in nonsyndromic pheochromocytoma. 12000816

2002
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: 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 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 Molecular basis of von Hippel-Lindau syndrome in Chinese patients. 21362373

2011
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: rs104893824
rs104893824
VHL
A 0.810 CausalMutation CLINVAR Hypoxia-inducible factor linked to differential kidney cancer risk seen with type 2A and type 2B VHL mutations. 17526729

2007
dbSNP: rs104893824
rs104893824
VHL
A 0.810 CausalMutation CLINVAR Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families. 10761708

2000
dbSNP: rs104893824
rs104893824
VHL
A 0.810 CausalMutation CLINVAR Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes. 19602254

2009
dbSNP: rs104893824
rs104893824
VHL
A 0.810 CausalMutation CLINVAR We have identified a family segregating von Hippel-Lindau (VHL) disease with a previously unreported T547A mutation in exon 1 of the VHL gene that causes a Tyr112 to Asn missense alteration in the protein. 10533030

1999
dbSNP: rs119103277
rs119103277
VHL
A 0.810 CausalMutation CLINVAR

dbSNP: rs5030802
rs5030802
VHL
A 0.810 CausalMutation CLINVAR Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease. 25078357

2014
dbSNP: rs5030802
rs5030802
VHL
A 0.810 CausalMutation CLINVAR Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex. 15611064

2005
dbSNP: rs5030802
rs5030802
VHL
A 0.810 CausalMutation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912

1998
dbSNP: rs5030802
rs5030802
VHL
A 0.810 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: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. 15300849

2004
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center. 25562111

2015
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes. 19602254

2009
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations. 15574766

2004
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. 25371412

2014
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR VHL type 2B mutations retain VBC complex form and function. 19030229

2008
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR The common germline VHL mutations were: delPhe76, Asn78Ser, Arg161Stop, Arg167Gln, Arg167Trp, and Leu178Pro. 8956040

1996