Variant Summary
- Also known as
- C.364_365GC>AT,ALA122ILE
- HGVS
- NM_000551.3:c.364_365delinsAT,ENST00000256474.2:c.364_365delinsAT,NC_000003.11:g.10188221_10188222delinsAT,NC_000003.12:g.10146537_10146538delinsAT
- Variant Type(s)
- missense_variant
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = A122I (c.364_365GC>AT).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |