CIViC Variants/F76del (c.227_229del)

F76del (c.227_229del)

CIViC ID: 2088 · Gene: VHL

Variant Summary

Also known as: PHE76DEL,C.224_226DELTCT,C.226_228DELTTC,C.227_229DELTCT,DELPHE76,F76DEL (C.227_229DELTCT)
HGVS: ENST00000256474.2:c.224_226delTCT,NP_000542.1:p.Phe76del,NC_000003.11:g.10183758_10183760del,NC_000003.12:g.10142074_10142076del,NM_000551.3:c.227_229del,ENSP00000256474.2:p.Phe76del
Variant Type(s): inframe_deletion
Evidence Items: 20

Level C: 20

Showing CIViC evidence rows where gene = VHL and variant = F76del (c.227_229del).

Level	Type	Direction	Significance	Disease	Rating
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease	4
C	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease	4
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	3
C	Predisposing			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	Uncertain Significance	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
C	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease	2
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease	2
C	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease	1