Variant Summary
- Also known as
- 77INSL
- HGVS
- NC_000003.12:g.10142077_10142078insTCT,NC_000003.11:g.10183761_10183762insTCT,NM_000551.3:c.230_231insTCT,NP_000542.1:p.Cys77_Asn78insLeu
- Variant Type(s)
- disruptive_inframe_insertion
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = C77_N78insL (c.230_231insTCT).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Von Hippel-Lindau Disease | 3 | |||
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |