Gene: VHL ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780178275
rs780178275
VHL
0.010 GeneticVariation BEFREE However, now we describe a new homozygous VHL exon 2 mutation of the VHL gene:(c.413C>T):P138L, which is associated in the affected homozygote with congenital polycythemia but not in her, or her-heterozygous relatives, with cancer or other VHL syndrome tumors. 23538339

2013
dbSNP: rs28940297
rs28940297
VHL
0.010 GeneticVariation BEFREE A DNA sequence analysis of vhl tumor suppressor gene revealed the L163R mutation. 15607616

2004
dbSNP: rs774380450
rs774380450
VHL
0.010 GeneticVariation BEFREE Recognition of the VHL disease 2A phenotype suggests the presence of a specific mutation (T505C) in the VHL gene. 11709017

2001
dbSNP: rs35460768
rs35460768
VHL
0.020 GeneticVariation BEFREE Sequence analysis identified the VHL P25L variant in 7 of 14 family members, one of whom had a single retinal hemangioma, which is in itself insufficient to diagnose VHL disease. 16884327

2006
dbSNP: rs35460768
rs35460768
VHL
0.020 GeneticVariation BEFREE P25L is a rare variant of the VHL gene and cannot be considered a cause of VHL disease. 11257211

2001
dbSNP: rs869025655
rs869025655
VHL
C 0.700 CausalMutation CLINVAR Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors. 29748190

2018
dbSNP: rs1559426203
rs1559426203
VHL
G 0.700 CausalMutation CLINVAR Differences in genetic and epigenetic alterations between von Hippel-Lindau disease-related and sporadic hemangioblastomas of the central nervous system. 28379443

2017
dbSNP: rs367545984
rs367545984
VHL
0.700 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: rs373068386
rs373068386
VHL
0.700 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: rs377715747
rs377715747
VHL
0.700 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: rs5030803
rs5030803
VHL
0.700 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: rs730882033
rs730882033
VHL
0.700 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: rs771727849
rs771727849
VHL
0.700 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: rs869025655
rs869025655
VHL
C 0.700 CausalMutation CLINVAR Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience. 28469506

2017
dbSNP: rs869025659
rs869025659
VHL
0.700 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: rs1559426203
rs1559426203
VHL
T 0.700 CausalMutation CLINVAR Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. 25867206

2016
dbSNP: rs1559426203
rs1559426203
VHL
T 0.700 CausalMutation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016
dbSNP: rs5030648
rs5030648
VHL
A 0.700 CausalMutation CLINVAR Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma. 27439424

2016
dbSNP: rs5030819
rs5030819
VHL
T 0.700 CausalMutation CLINVAR Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma. 26920352

2016
dbSNP: rs869025622
rs869025622
VHL
T 0.700 GeneticVariation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016
dbSNP: rs869025637
rs869025637
VHL
G 0.700 CausalMutation CLINVAR Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance. 27530247

2016
dbSNP: rs1559426203
rs1559426203
VHL
T 0.700 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: rs367545984
rs367545984
VHL
0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs367545984
rs367545984
VHL
0.700 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: rs373068386
rs373068386
VHL
0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015