Variant · Deletion
VHL S43_E47del (c.123_137del)
CI-VAR-00004063Explore in graph →CIViC 4076
Curated evidence
Evidence by cancer (2 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
- 15300849
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease2unmapped disease | ||||||||
| VHL S43_E47del (c.123_137del) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID10423Molecular and clinical analysis of 126 French VHL families tested for renal involvement revealed 92 different mutations. 90 of these families had renal involvement. The p.S43_E47del (c.123_137del) ger… (full text at CIViC) PMID 15300849 · Gallou et al., 2004 · Open in CIViC | civic |
| VHL S43_E47del (c.123_137del) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | rejected | EID10806This study investigated the effectiveness of whole exome sequencing (WES) and an in-house hybridization based gene panel (ENDOGENE Panel v2.0) at detecting mutations in pheochromocytoma/paraganglioma … (full text at CIViC) PMID 34439371 · Sarkadi et al., 2021 · 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