Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL MUTATION
VHL MUTATION - Associated Disease
- von Hippel-Lindau disease
- Source Database
- CIViC Evidence
- Description
- Of 65 VHL families from central Europe, 53 were identified with germline mutations. This mutation was found in 2 Croatian, VHL type 1 family members (family VHL 26). Both have hemangioblastomas of the central nervous system, one has renal cell carcinoma, and one with pancreatic cysts.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5364
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1995
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 8707293
Drugs