Gene

VHL

von Hippel-Lindau tumor suppressor

Explore in graph →CI-GENE-00038379HGNC:12687 ENSG00000134086 NCBI 7428 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (2,994)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 2,601–2,650 of 2,994 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
VHL V130F (c.388G>T)4
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	submitted

Cohorts

Alteration frequency by cohort (42)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

gdcObserved42 cohort rows · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Kidney Renal Clear Cell Carcinoma TCGA-KIRC	Clear Cell Renal Cell Carcinoma	Ssm

Literature

Linked publications (98)

25 per page, newest first.

pubmedPublishedShowing 51–75 of 98 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Variable response of CNS hemangioblastomas to Pazopanib in a single patient with von Hippel-Lindau disease: Case report.
· J Clin Neurosci · 2018 · PMID 29396065 · validated civic_curation pubmed
A case of 3p deletion syndrome associated with cerebellar hemangioblastoma.
· Brain Dev · 2016 · PMID 26365017 · validated civic_curation pubmed
Cardiac Involvement in Von Hippel-Lindau Disease.
· Med Princ Pract · 2016 · PMID 26584481 · validated civic_curation pubmed
von Hippel-Lindau development in children and adolescents.
· Am J Med Genet A · 2017 · PMID 28650583 · validated civic_curation pubmed

VHL V130I (c.388G>A)2
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6345 37 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 2 patients (F… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	submitted	EID10980 216 patients with clinically expected VHL disease due to family history or presence of VHL typical tumours were routinely examined in an eye centre in Germany between January 2019 and January 2020, ma… (full text at CIViC) PMID 33720516 · Reich et al., 2021 · Open in CIViC	civic

VHL V130I (c.388G>A)2

(predisposing)

Von Hippel-Lindau DiseaseUNRESOLVED

Predisposing

Supports Uncertain Significance

submitted

EID6345

37 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 2 patients (F… (full text at CIViC)

PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC

VHL V130L (c.388G>C)12
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	accepted	EID6115 Thirty-five unrelated patients suspected of having von Hippel-Lindau disease were analyzed and 32 VHL gene variants were found in 35 patients. An association of clear cell renal carcinoma development … (full text at CIViC) PMID 14722919 · Ruiz-Llorente et al., 2004 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6824 A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were… (full text at CIViC) PMID 28388566 · Peng et al., 2017 · Open in CIViC	civic
〃	Kidney CarcinomaALIAS	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6910 Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	N/A N/A	3	submitted	EID9260 A case study revealed an 8Y boy with endolympatic sac tumor, discovered by high-resolution computed tomographic imaging. Genetic analysis revealed a missense VHL mutation c.388G>C (originally written … (full text at CIViC) PMID 14501465 · Williamson et al., 2003 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	N/A N/A	3	submitted	EID10002 A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeare… (full text at CIViC) PMID 12202531 · Dollfus et al., 2002 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	submitted	EID10456 Molecular and clinical analysis of 126 French VHL families tested for renal involvement revealed 92 different mutations. 90 of these families had renal involvement. The p.V130L (c.388G>C) germline var… (full text at CIViC) PMID 15300849 · Gallou et al., 2004 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	submitted	EID10714 A retrospective cohort study describes phenotypic variability within families with von Hippel-Lindau disease. Patients with genetically confirmed VHL were identified, although methods were not stated.… (full text at CIViC) PMID 34416425 · Bowen et al., 2022 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	submitted	EID10815 This paper analysed high-grade ccRCC and paired normal tissues to identify somatically-acquired SNPs and indels with Sanger sequencing and NGS. 79% of the reported ccRCC tumors were somatically acquir… (full text at CIViC) PMID 22683710 · Peña-Llopis et al., 2012 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	2	accepted	EID5301 Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 1 patient (patient no. V91). No… (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6637 A clear cell renal cell carcinoma patient was found to have a c.388G>C (p.Val130Leu) mutation in the VHL gene in a serum sample. No other phenotypic or demographic information was provided. PMID 28214514 · Corrò et al., 2017 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	2	submitted	EID10349 A case study revealed an 8Y boy, presenting with a profound sensorineural hearing loss and intermittent vertigo. He was found to have an endolymphatic sac tumor, discovered by high-resolution computed… (full text at CIViC) PMID 14501465 · Williamson et al., 2003 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	1	submitted	EID5531 Eight children with a history of polycythemia and elevated serum erythropoietin level were evaluated. Three germline mutations were identified in 4 patients while, mutations were not detected for othe… (full text at CIViC) PMID 12393546 · Pastore et al., 2003 · Open in CIViC	civic

VHL V130Wfs*30 (c.385_386dup)3
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	N/A N/A	3	submitted	EID9381 A cohort of VHL patients from the Greater Toronto Area in Canada were retrospectively reviewed. Patient ID 14 was found with this germline mutation and CNS hemangioblastoma; renal cell carcinoma; and … (full text at CIViC) PMID 31368132 · Salama et al., 2019 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	N/A N/A	3	submitted	EID9971 A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeare… (full text at CIViC) PMID 12202531 · Dollfus et al., 2002 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	submitted	EID10455 Molecular and clinical analysis of 126 French VHL families tested for renal involvement revealed 92 different mutations. 90 of these families had renal involvement. The p.V130Wfs*30 (c.385_386dup) ger… (full text at CIViC) PMID 15300849 · Gallou et al., 2004 · Open in CIViC	civic

VHL V155E (c.464T>A)4
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	4	accepted	EID5171 Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of pheochromocytoma is associated with missense mutations that result in substitution of a surface amin… (full text at CIViC) PMID 17024664 · Ong et al., 2007 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	4	submitted	EID5686 This paper reports a Chinese VHL kindred carrying the above mutation. Molecular analysis was performed in 10 members of this kindred, and 3 members were found to carry the mutation. The 7 patients wit… (full text at CIViC) PMID 23203444 · Lu et al., 2013 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	submitted	EID7739 A retrospective study of thirty-one subjects with chromaffin tumours from the St Bartholomew’s Hospital found 12 patients with VHL mutations. A germline missense mutation (c.464T>A) was found in famil… (full text at CIViC) PMID 19208735 · Srirangalingam et al., 2009 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	N/A N/A	2	submitted	EID9053 17 patients with VHL disease followed by the Department of Endocrinology at St Bartholomew’s Hospital since 1988 were retrospectively reviewed. Patient 9 (32Y old female) was found with a germline c.4… (full text at CIViC) PMID 12390333 · Mukhopadhyay et al., 2002 · Open in CIViC	civic

VHL V155fs (c.464_468delTGTAT)2
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	submitted	EID10526 A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were… (full text at CIViC) PMID 28388566 · Peng et al., 2017 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6686 Kaplan-Meier plot and Cox regression model were used to evaluate the median survival and assess how survival was influenced by birth year, birth order, sex, family history, mutation type, onset age an… (full text at CIViC) PMID 29330336 · Wang et al., 2018 · Open in CIViC	civic