Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553619440
rs1553619440
VHL
A 0.800 CausalMutation CLINVAR Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas. 16142346

2005
dbSNP: rs1553619440
rs1553619440
VHL
A 0.800 CausalMutation CLINVAR Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease. 11114638

2000
dbSNP: rs1553619440
rs1553619440
VHL
A 0.800 CausalMutation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
dbSNP: rs1553619440
rs1553619440
VHL
A 0.800 CausalMutation CLINVAR Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease. 17688370

2007
dbSNP: rs1553619440
rs1553619440
VHL
A 0.800 CausalMutation CLINVAR Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A. 8863170

1996
dbSNP: rs1553619440
rs1553619440
VHL
A 0.800 CausalMutation CLINVAR A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C. 17922902

2007
dbSNP: rs1553619440
rs1553619440
VHL
A 0.800 CausalMutation CLINVAR Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis. 19270817

2009
dbSNP: rs1553619440
rs1553619440
VHL
A 0.800 CausalMutation CLINVAR Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families. 10761708

2000
dbSNP: rs1553619440
rs1553619440
VHL
A 0.800 CausalMutation CLINVAR Genetic testing in pheochromocytoma or functional paraganglioma. 16314641

2005
dbSNP: rs1553619440
rs1553619440
VHL
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs1553619440
rs1553619440
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: rs1553619440
rs1553619440
VHL
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs1553619440
rs1553619440
VHL
0.800 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs1553619440
rs1553619440
VHL
0.800 GeneticVariation UNIPROT Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306

1994
dbSNP: rs1553619440
rs1553619440
VHL
0.800 GeneticVariation UNIPROT The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma. 16502427

2006
dbSNP: rs1553619440
rs1553619440
VHL
0.800 GeneticVariation UNIPROT Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911

1998
dbSNP: rs1553619440
rs1553619440
VHL
0.800 GeneticVariation UNIPROT Identification of the von Hippel-Lindau disease tumor suppressor gene. 8493574

1993
dbSNP: rs1553619440
rs1553619440
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: rs1553619440
rs1553619440
VHL
0.800 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: rs1553619440
rs1553619440
VHL
0.800 GeneticVariation UNIPROT Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. 8592333

1995
dbSNP: rs1553619440
rs1553619440
VHL
0.800 GeneticVariation UNIPROT Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC. 10635329

1999
dbSNP: rs1553619440
rs1553619440
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: rs1553619440
rs1553619440
VHL
0.800 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs1553619440
rs1553619440
VHL
0.800 GeneticVariation UNIPROT Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
dbSNP: rs1553619440
rs1553619440
VHL
0.800 GeneticVariation UNIPROT Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995