Variant Summary
- Also known as
- C.250G>A,VAL84MET,RS5030827
- HGVS
- NM_000551.3:c.250G>A,NP_000542.1:p.Val84Met,NC_000003.11:g.10183781G>A,ENST00000256474.2:c.250G>A
- Variant Type(s)
- missense_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = V84M (c.250G>A).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 2 |