Variant Summary
- Also known as
- 440_441INSC,C.227_228INSC,F76FS,C.227INSC
- HGVS
- NC_000003.11:g.10183759dup,NC_000003.12:g.10142075dup,NM_000551.3:c.228dup,ENST00000256474.2:c.228dup,NP_000542.1:p.Cys77LeufsTer?,ENSP00000256474.2:p.Cys77LeufsTer?
- Variant Type(s)
- —
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = C77fs (c.228dup).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Von Hippel-Lindau Disease | 4 | |||
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |