VHL Null (deletion)

CI-VAR-00003013Explore in graph →CIViC 3180

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Disease3unmapped disease
VHL Null (deletion)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8724 Twenty-one patients with VHL disease from 11 families in Nova Scotia were identified. Sixteen patients diagnosed with VHL disease had genetic testing. Among the six patients with RCC, 2 point mutation… (full text at CIViC) PMID 19293973 · Bradley et al., 2009 · Open in CIViC	civic
VHL Null (deletion)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID9418 A 21-year-old man presented in 1963 with 2 retinal hemangiomas characteristic of von Hippel-Lindaudisease (VHLD). Two pigmented ocular fundus lesions were noted but their significance was not realized… (full text at CIViC) PMID 8859104 · Kilmartin et al., 1996 · 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.