C4085590[trait identifier] AND "DBGen Ocular Genomics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1298333	NM_201253.3(CRB1):c.3881G>A (p.Cys1294Tyr)	CRB1 (C1182Y +3 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GConflicting classifications of pathogenicity
Select item 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	Retinal dystrophy +22 more	GPathogenic
Select item 1298332	NM_001278293.3(ARL6):c.482C>T (p.Ala161Val)	ARL6 (A161V)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy	GUncertain significance
Select item 2440908	NM_016247.4(IMPG2):c.829-2A>T	IMPG2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2628042	NM_130837.3(OPA1):c.1361T>C (p.Leu454Ser)	OPA1 (L275S +9 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy	GUncertain significance
Select item 802053	NM_006017.3(PROM1):c.1984-1G>T	PROM1	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GPathogenic
Select item 623211	NM_006017.3(PROM1):c.1301+2T>C	PROM1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2628053	NM_004928.3(CFAP410):c.140T>C (p.Leu47Pro)	CFAP410 (L47P +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy	GUncertain significance

ClinVar