Variant · Indel
VHL V130Wfs*30 (c.385_386dup)
CI-VAR-00004443Explore in graph →CIViC 3366
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
- 31368132
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease3unmapped disease | ||||||||
| VHL V130Wfs*30 (c.385_386dup) | (predisposing) | Predisposing | C | N/A N/A | 3 | submitted | EID9381A cohort of VHL patients from the Greater Toronto Area in Canada were retrospectively reviewed. Patient ID 14 was found with this germline mutation and CNS hemangioblastoma; renal cell carcinoma; and … (full text at CIViC) PMID 31368132 · Salama et al., 2019 · Open in CIViC | civic |
| VHL V130Wfs*30 (c.385_386dup) | (predisposing) | Predisposing | C | N/A N/A | 3 | submitted | EID9971A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeare… (full text at CIViC) PMID 12202531 · Dollfus 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