Variant Summary
- Also known as
- R107DUP,R108INS (C.324INSCGC)
- HGVS
- NC_000003.11:g.10183853_10183855dup,NC_000003.12:g.10142169_10142171dup,NP_000542.1:p.Arg108dup,NM_000551.4:c.322_324dup,NM_000551.3:c.322_324dup
- Variant Type(s)
- conservative_inframe_insertion
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = R108dup (c.322_324dup).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |