Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030820
rs5030820
VHL
T 0.700 CausalMutation CLINVAR Clinical management of pheochromocytoma and paraganglioma in Singapore: missed opportunities for genetic testing. 28944243

2017

dbSNP: rs1553620318
rs1553620318
VHL
T 0.700 GeneticVariation CLINVAR Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. 27811160

2016

dbSNP: rs28940298
rs28940298
VHL
T 0.700 CausalMutation CLINVAR Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. 27651169

2016

dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family. 27057652

2016

dbSNP: rs5030622
rs5030622
VHL
G 0.700 CausalMutation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016

dbSNP: rs5030802
rs5030802
VHL
A 0.700 GeneticVariation CLINVAR Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma. 27439424

2016

dbSNP: rs5030802
rs5030802
VHL
A 0.700 GeneticVariation CLINVAR A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas. 25715769

2016

dbSNP: rs5030802
rs5030802
VHL
A 0.700 GeneticVariation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016

dbSNP: rs5030804
rs5030804
VHL
G 0.700 CausalMutation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016

dbSNP: rs5030804
rs5030804
VHL
G 0.700 CausalMutation CLINVAR Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma. 27439424

2016

dbSNP: rs5030818
rs5030818
VHL
T 0.700 CausalMutation CLINVAR VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease. 27617348

2016

dbSNP: rs5030818
rs5030818
VHL
T 0.700 CausalMutation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016

dbSNP: rs5030820
rs5030820
VHL
T 0.700 CausalMutation CLINVAR Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma. 27439424

2016

dbSNP: rs5030820
rs5030820
VHL
T 0.700 CausalMutation CLINVAR Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. 27539324

2016

dbSNP: rs5030821
rs5030821
VHL
C 0.700 CausalMutation CLINVAR Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. 25867206

2016

dbSNP: rs5030821
rs5030821
VHL
A 0.700 CausalMutation CLINVAR Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma. 27439424

2016

dbSNP: rs5030827
rs5030827
VHL
A 0.700 GeneticVariation CLINVAR Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis. 27311873

2016

dbSNP: rs730882034
rs730882034
VHL
T 0.700 CausalMutation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016

dbSNP: rs730882035
rs730882035
VHL
A 0.700 CausalMutation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016

dbSNP: rs869025615
rs869025615
VHL
T 0.700 CausalMutation CLINVAR Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance. 27530247

2016

dbSNP: rs869025621
rs869025621
VHL
T 0.700 GeneticVariation CLINVAR Aggregation dynamics and identification of aggregation-prone mutants of the von Hippel-Lindau tumor suppressor protein. 27179072

2016

dbSNP: rs1131690954
rs1131690954
VHL
G 0.700 CausalMutation CLINVAR A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family. 26323595

2015

dbSNP: rs1131690961
rs1131690961
VHL
C 0.700 GeneticVariation CLINVAR Insights into Cullin-RING E3 ubiquitin ligase recruitment: structure of the VHL-EloBC-Cul2 complex. 25661653

2015

dbSNP: rs1131690962
rs1131690962
VHL
C 0.700 GeneticVariation CLINVAR Unique molecular alteration patterns in von Hippel-Lindau (VHL) gene in a cohort of sporadic renal cell carcinoma patients from Pakistan. 24727139

2015

dbSNP: rs1553619976
rs1553619976
VHL
CA 0.700 CausalMutation CLINVAR Unique molecular alteration patterns in von Hippel-Lindau (VHL) gene in a cohort of sporadic renal cell carcinoma patients from Pakistan. 24727139

2015