Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030827
rs5030827
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.800 CausalMutation CLINVAR BAP1 loss defines a new class of renal cell carcinoma. 22683710

2012
dbSNP: rs5030827
rs5030827
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.800 CausalMutation CLINVAR Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. 21784903

2011
dbSNP: rs5030827
rs5030827
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.800 CausalMutation CLINVAR Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population. 21463266

2011
dbSNP: rs5030827
rs5030827
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.800 CausalMutation CLINVAR Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes. 19602254

2009
dbSNP: rs5030827
rs5030827
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.800 CausalMutation CLINVAR VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. 19228690

2009
dbSNP: rs5030827
rs5030827
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.800 CausalMutation CLINVAR The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma. 16502427

2006
dbSNP: rs5030827
rs5030827
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.800 CausalMutation CLINVAR von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. 11331612

2001
dbSNP: rs5030827
rs5030827
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.800 CausalMutation CLINVAR DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations. 11409863

2001
dbSNP: rs5030827
rs5030827
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.800 CausalMutation CLINVAR Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. 8592333

1995