Publication
Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
Data not yet available
Linked entities
Linked entities (3)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 3
- geneVHLcivic_curation1.00
- variantVHL *214C (c.641_642insC)civic_curation1.00
- variantVHL *214G (c.640T>G)civic_curation1.00
Curated evidence
Evidence citing this paper (2)
- 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
- 12673678
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL *214C (c.641_642insC)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | accepted | EID6724A female of unknown age (Patient 8) from Europe presented with a unilateral adrenal pheochromocytoma. Genetic testing confirmed a germline frameshift mutation found at c.641insC in the VHL gene. Famil… (full text at CIViC) PMID 12673678 · Dannenberg et al., 2003 · Open in CIViC | civic |
| VHL *214G (c.640T>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | accepted | EID6723A 49 year old female (Patient 3) from Europe presented with a unilateral adrenal pheochromocytoma. Genetic testing confirmed germline missense mutation found at c.640T>G in the VHL gene (reported as T… (full text at CIViC) PMID 12673678 · Dannenberg et al., 2003 · Open in CIViC | civic |