Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience. 28469506

2017
dbSNP: rs5030821
rs5030821
VHL
0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs5030821
rs5030821
VHL
0.810 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs5030821
rs5030821
VHL
0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
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
0.810 GeneticVariation BEFREE About one third of VHL mutations are missense point mutations, with R167Q being the most common VHL point mutation in hereditary VHL disease. 24755468

2014
dbSNP: rs5030821
rs5030821
VHL
0.810 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
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
0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs5030821
rs5030821
VHL
0.810 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs5030821
rs5030821
VHL
T 0.810 CausalMutation CLINVAR Identification of 3 novel VHL germ-line mutations in Danish VHL patients. 22799452

2012
dbSNP: rs5030821
rs5030821
VHL
T 0.810 CausalMutation CLINVAR Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population. 21463266

2011
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR Molecularly genetic analysis of von Hippel-Lindau associated central nervous system hemangioblastoma. 20518900

2010
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 Germline mutations in the von Hippel-Lindau gene in Italian patients. 19464396

2009
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo. 19252526

2009
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 Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. 15300849

2004
dbSNP: rs5030821
rs5030821
VHL
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
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 Germ-line mutations in nonsyndromic pheochromocytoma. 12000816

2002
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493

1999
dbSNP: rs5030821
rs5030821
VHL
T 0.810 CausalMutation CLINVAR Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911

1998
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR The common germline VHL mutations were: delPhe76, Asn78Ser, Arg161Stop, Arg167Gln, Arg167Trp, and Leu178Pro. 8956040

1996
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. 8730290

1996