Variant · Deletion

VHL F76del (c.227_229del)

CI-VAR-00001138Explore in graph →NP_000542.1:p.Phe76delNM_000551.3:c.227_229delClinVar 223166 CIViC 2088 rs5030648

Curated evidence

Evidence by cancer (50 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 1–50 of 50 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 Disease50unmapped disease
VHL F76del (c.227_229del)	(predisposing)	Predisposing	C	Supports Predisposition	4	accepted	EID4919 This deletion mutation was found in two VHL type 1 families of 15 individuals altogether (Family IDs 2693 and 2956 in publication). Five of 7 individuals were identified with retinal hemangioblastomas… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC	civic
VHL F76del (c.227_229del)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5203 In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 18 novel variants were identified in VHL patients, but none were present in 200 unaffected control in… (full text at CIViC) PMID 21463266 · Leonardi et al., 2011 · Open in CIViC

ClinVar

Clinical significance (1)

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

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
223166	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; VHL-related disorder; Hereditary cancer-predisposing syndrome; Pheochromocytoma; Nonpapillary renal cell carcinoma	germline	14	Jan 11, 2026	clinvar