VHL G144fs (c.432insG)

CI-VAR-00001654Explore in graph →CIViC 1949

Curated evidence

Evidence by cancer (1 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 1–1 of 1 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 Disease1unmapped disease
VHL G144fs (c.432insG)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5247 Germline mutation analysis of seven east-Chinese families revealed 6 mutations. This novel mutation was found in 2 male VHL type 1 family members with hemangioblastomas of the central nervous system (… (full text at CIViC) PMID 21972040 · Huang et al., 2012 · Open in CIViC	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.