Variant Summary
- Also known as
- C.301_302CT>GG
- HGVS
- NM_000551.3:c.301_302delinsGG,NP_000542.1:p.Leu101Gly,ENST00000256474.2:c.301_302delinsGG,ENSP00000256474.2:p.Leu101Gly,NC_000003.11:g.10183832_10183833delinsGG,NC_000003.12:g.10142148_10142149delinsGG
- Variant Type(s)
- delins
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = L101G (c.301_302delinsGG).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |