Variant Summary
- Also known as
- L15409.1:380INSA,380INSA
- HGVS
- NC_000003.11:g.10183697_10183698insA,NC_000003.12:g.10142013_10142014insA,NM_000551.3:c.166_167insA,NP_000542.1:p.Ala56AspfsTer?,ENST00000256474.2:c.166_167insA
- 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 = A56fs (c.166_167insA).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |