Variant Summary
- Also known as
- C.583C>T,Q195X,GLN195TER,RS5030825
- HGVS
- NM_000551.3:c.583C>T,NP_000542.1:p.Gln195Ter,NC_000003.11:g.10191590C>T,ENST00000256474.2:c.583C>T
- Variant Type(s)
- stop_gained
- Evidence Items
- 9
Evidence Level Distribution
Level C: 9
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = Q195* (c.583C>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 1 |