Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893824
rs104893824
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: rs104893824
rs104893824
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: rs104893824
rs104893824
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: rs104893824
rs104893824
VHL
0.810 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs104893824
rs104893824
VHL
0.810 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs104893824
rs104893824
VHL
0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs104893824
rs104893824
VHL
C 0.810 CausalMutation CLINVAR Long-term outcomes, branch-specific expressivity, and disease-related mortality in von Hippel-Lindau type 2A. 21713522

2011
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
C 0.810 CausalMutation CLINVAR VHL type 2B mutations retain VBC complex form and function. 19030229

2008
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
0.810 GeneticVariation UNIPROT The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma. 16502427

2006
dbSNP: rs104893824
rs104893824
VHL
C 0.810 CausalMutation CLINVAR In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations. 15574766

2004
dbSNP: rs104893824
rs104893824
VHL
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
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 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: rs104893824
rs104893824
VHL
0.810 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: rs104893824
rs104893824
VHL
0.810 GeneticVariation BEFREE 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: rs104893824
rs104893824
VHL
0.810 GeneticVariation UNIPROT 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: rs104893824
rs104893824
VHL
0.810 GeneticVariation UNIPROT Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC. 10635329

1999
dbSNP: rs104893824
rs104893824
VHL
0.810 GeneticVariation UNIPROT Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912

1998
dbSNP: rs104893824
rs104893824
VHL
0.810 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: rs104893824
rs104893824
VHL
0.810 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: rs104893824
rs104893824
VHL
0.810 GeneticVariation UNIPROT Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients. 9452106

1998
dbSNP: rs104893824
rs104893824
VHL
0.810 GeneticVariation UNIPROT Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911

1998
dbSNP: rs104893824
rs104893824
VHL
C 0.810 CausalMutation CLINVAR Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A. 8863170

1996