Variant Summary
- Also known as
- C.337C>T,R113X,ARG113TER,RS5030810
- HGVS
- NM_000551.3:c.337C>T,NP_000542.1:p.Arg113Ter,NC_000003.11:g.10183868C>T,ENST00000256474.2:c.337C>T
- Variant Type(s)
- stop_gained
- Evidence Items
- 7
Evidence Level Distribution
Level C: 7
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = R113* (c.337C>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |