Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.

CIViC Variants/R167Q (c.500G>A)

R167Q (c.500G>A)

CIViC ID: 1739 · Gene: VHL

Variant Summary

Also known as: C.500G>A,ARG167GLN,RS5030821
HGVS: NM_000551.3:c.500G>A,NP_000542.1:p.Arg167Gln,NC_000003.11:g.10191507G>A,ENST00000256474.2:c.500G>A
Variant Type(s): missense_variant
Evidence Items: 16

Evidence Level Distribution

Level C: 16

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = R167Q (c.500G>A).

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	Predisposition	Von Hippel-Lindau Disease		3
C	Predisposing			Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Uncertain Significance	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		2
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		2
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		2