Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516441
rs397516441
VHL
0.800 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: rs397516441
rs397516441
VHL
0.800 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: rs397516441
rs397516441
VHL
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs397516441
rs397516441
VHL
0.800 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs397516441
rs397516441
VHL
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs397516441
rs397516441
VHL
0.800 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs397516441
rs397516441
VHL
G 0.800 GeneticVariation CLINVAR Genetic analysis of von Hippel-Lindau disease. 20151405

2010
dbSNP: rs397516441
rs397516441
VHL
G 0.800 CausalMutation CLINVAR Genetic analysis of von Hippel-Lindau disease. 20151405

2010
dbSNP: rs397516441
rs397516441
VHL
G 0.800 CausalMutation CLINVAR Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. 20660572

2010
dbSNP: rs397516441
rs397516441
VHL
G 0.800 GeneticVariation CLINVAR Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 19336503

2009
dbSNP: rs397516441
rs397516441
VHL
G 0.800 GeneticVariation CLINVAR The Warburg effect is genetically determined in inherited pheochromocytomas. 19763184

2009
dbSNP: rs397516441
rs397516441
VHL
G 0.800 GeneticVariation CLINVAR Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation? 19029228

2009
dbSNP: rs397516441
rs397516441
VHL
G 0.800 CausalMutation CLINVAR Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas. 19574279

2009
dbSNP: rs397516441
rs397516441
VHL
G 0.800 CausalMutation CLINVAR The Warburg effect is genetically determined in inherited pheochromocytomas. 19763184

2009
dbSNP: rs397516441
rs397516441
VHL
G 0.800 CausalMutation CLINVAR Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation? 19029228

2009
dbSNP: rs397516441
rs397516441
VHL
G 0.800 CausalMutation CLINVAR Local-regional recurrence of sporadic or syndromic abdominal extra-adrenal paraganglioma: incidence, characteristics, and outcome. 19958924

2009
dbSNP: rs397516441
rs397516441
VHL
G 0.800 CausalMutation CLINVAR Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 19336503

2009
dbSNP: rs397516441
rs397516441
VHL
0.800 GeneticVariation UNIPROT The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma. 16502427

2006
dbSNP: rs397516441
rs397516441
VHL
G 0.800 GeneticVariation CLINVAR Genetic testing in pheochromocytoma or functional paraganglioma. 16314641

2005
dbSNP: rs397516441
rs397516441
VHL
G 0.800 CausalMutation CLINVAR Genetic testing in pheochromocytoma or functional paraganglioma. 16314641

2005
dbSNP: rs397516441
rs397516441
VHL
G 0.800 CausalMutation CLINVAR Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. 15300849

2004
dbSNP: rs397516441
rs397516441
VHL
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs397516441
rs397516441
VHL
G 0.800 CausalMutation CLINVAR Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. 14500403

2003
dbSNP: rs397516441
rs397516441
VHL
G 0.800 CausalMutation CLINVAR Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes. 12807974

2003
dbSNP: rs397516441
rs397516441
VHL
G 0.800 CausalMutation CLINVAR Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 12202531

2002