Variant Summary
- Also known as
- C.305DELC,PRO102FS
- HGVS
- ENST00000256474.2:c.305delC,NC_000003.11:g.10183836del,NM_000551.3:c.305del,NP_000542.1:p.Pro102ArgfsTer?
- Variant Type(s)
- frameshift_truncation
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = P102fs (c.305delC).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |