Variant · Indel
VHL Q145Tfs* (c.432_433insA)
CI-VAR-00003493Explore in graph →ENST00000256474.2:c.432_433insACIViC 2155
Curated evidence
Evidence by cancer (1 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
- 25562111
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease1unmapped disease | ||||||||
| VHL Q145Tfs* (c.432_433insA) | (predisposing) | Predisposing | C | Supports Predisposition | 2 | submitted | EID5782In the analysis of 63 VHL patients, 55 patients were found with pancreatic involvement. Genetic tests on 35 of 55 VHL patients revealed VHL mutations in 28 patients. Hemangioblastomas of the central n… (full text at CIViC) PMID 25562111 · Park et al., 2015 · 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