VHL C77_N78insL (c.230_231insTCT)

CI-VAR-00000359Explore in graph →NP_000542.1:p.Cys77_Asn78insLeuNM_000551.3:c.230_231insTCTCIViC 3096

Curated evidence

Evidence by cancer (4 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 1–4 of 4 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 Disease4unmapped disease
VHL C77_N78insL (c.230_231insTCT)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5364 Of 65 VHL families from central Europe, 53 were identified with germline mutations. This mutation was found in 2 Croatian, VHL type 1 family members (family VHL 26). Both have hemangioblastomas of th… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC	civic
VHL C77_N78insL (c.230_231insTCT)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID7894 36 VHL-related pheochromocytomas (from 21 patients) and 10 VHL-related CNS hemangioblastomas (from 6 patients) were studied using comparative genomic hybridization (CGH) to detect genetic imbalances. … (full text at CIViC) PMID 11850829 · Lui et al., 2002 · 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.