"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812338	NM_133497.4(KCNV2):c.411_414del (p.Leu138fs)	KCNV2 (L138fs)	Deletion (frameshift variant)	cone dystrophy with supernormal rod electroretinogram	GPathogenic
Select item 812339	NM_133497.4(KCNV2):c.455A>G (p.Asp152Gly)	KCNV2 (D152G)	Single nucleotide variant (missense variant)	cone dystrophy with supernormal rod electroretinogram	GLikely pathogenic
Select item 812340	NM_133497.4(KCNV2):c.725_730del (p.Gln242_Arg243del)	KCNV2	Deletion (inframe_deletion)	cone dystrophy with supernormal rod electroretinogram	GPathogenic
Select item 812341	NM_133497.4(KCNV2):c.758del (p.Pro253fs)	KCNV2 (P253fs)	Deletion (frameshift variant)	cone dystrophy with supernormal rod electroretinogram	GLikely pathogenic
Select item 812342	NM_133497.4(KCNV2):c.782C>A (p.Ala261Asp)	KCNV2 (A261D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812343	NM_133497.4(KCNV2):c.958C>T (p.Arg320Cys)	KCNV2 (R320C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 812344	NM_133497.4(KCNV2):c.995_996dup (p.Ser333fs)	KCNV2 (S333fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 812345	NM_133497.4(KCNV2):c.1441G>C (p.Gly481Arg)	KCNV2 (G481R)	Single nucleotide variant (missense variant)	cone dystrophy with supernormal rod electroretinogram	GLikely pathogenic

ClinVar