Variant · Snv
VHL c.463+43A>G
CI-VAR-00004913Explore in graph →CIViC 3159
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.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 16483185
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease3unmapped disease | ||||||||
| VHL c.463+43A>G | (predisposing) | Predisposing | C | N/A N/A | 2 | submitted | EID8655A 69-yr-old Caucasian woman presented with a very rare "composite and mixed pheochromocytoma". This was characterized by right adrenal pheochromocytoma associated with homolateral ganglioneuroma and c… (full text at CIViC) PMID 16483185 · Bernini et al., 2005 · Open in CIViC | civic |
| VHL c.463+43A>G | (predisposing) | Predisposing | C | N/A N/A | 2 | rejected | EID9857200 patients with intracranial aneurysms were molecularly analyzed for VHL to determine if it is a candidate gene for aneurysm formation using peripheral blood. Eight patients were analyzed in detail … (full text at CIViC) PMID 23434161 · Klingler et al., 2013 · 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