Variant · Indel
VHL F76fs (c.222_225dup)
CI-VAR-00001139Explore in graph →NP_000542.1:p.Phe76HisfsTer?NM_000551.4:c.222_225dupCIViC 2158
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
- 24062953
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease1unmapped disease | ||||||||
| VHL F76fs (c.222_225dup) | (predisposing) | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID5788This paper reports an Iraqi family with VHL. Two family members presented to a New Zealand Genetics service because of a family history of VHL. Genetic screening identified a single family member with… (full text at CIViC) PMID 24062953 · Brookes 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