VHL R69AFS*63 (c.204_205insG)

CI-VAR-00003881Explore in graph →ENST00000256474.2:c.204_205insGCIViC 2510

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 R69AFS*63 (c.204_205insG)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5593 64 VHL patients with renal involvement were analyzed. 61 of the 64 patients had a known germline mutation. The above mutation was identified in 2 patients. More specifically, the above mutation is bel… (full text at CIViC) PMID 22156657 · Jilg et al., 2012 · Open in CIViC	civic
VHL R69AFS*63 (c.204_205insG)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6792 A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were… (full text at CIViC) PMID 28388566 · Peng et al., 2017 · 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.