VHL R69fs (c.204insG)

CI-VAR-00003883Explore in graph →CIViC 1948

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 R69fs (c.204insG)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5245 Germline mutation analysis of seven east-Chinese families revealed 6 mutations. This mutation was found in a VHL type 1 male patient with hemangioblastomas of the central nervous system, retinal angio… (full text at CIViC) PMID 21972040 · Huang et al., 2012 · Open in CIViC	civic
VHL R69fs (c.204insG)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID8957 A retrospective analysis of 164 patients waiting for surgery for hemangioblastomas at Freiburg University Medical Center, Freiburg, Germany was conducted. Patient #13 (female, 40Y) was found with a ge… (full text at CIViC) PMID 23407287 · Gläsker et al., 2013 · 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.