Variant Summary
- Also known as
- X214L,*214LEXT*15,RS869025668
- HGVS
- NM_000551:c.641G>T,ENST00000256474.2:c.641G>T,NP_000542.1:p.Ter214Leu,NC_000003.11:g.10191648G>T
- Variant Type(s)
- stop_lost
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = *214L (c.641G>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 |