VHL A50= (c.150C>G)

CI-VAR-00000106Explore in graph →NP_000542.1:p.Ala50=CIViC 3173

Curated evidence

Evidence by cancer (2 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–2 of 2 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Von Hippel-Lindau Disease2unmapped disease
VHL A50= (c.150C>G)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8686 426 unrelated subjects with a clinical diagnosis ranging from VHL syndrome to sporadic potentially VHL-related tumours were analyzed for mutation in the VHL gene. The analysis was carried out by the V… (full text at CIViC) PMID 21463266 · Leonardi et al., 2011 · Open in CIViC	civic
VHL A50= (c.150C>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10524 74 patients (38 males, 36 females; 24 with prior sequencing data) with pheochromoctyoma were first analyzed by denaturing high performance liquid chromatography (dHPLC). PCR of all exons of VHL was pe… (full text at CIViC) PMID 19215943 · Meyer-Rochow et al., 2009 · Open in CIViC

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.