"DBGen Ocular Genomics"[submitter] AND "RDH12"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1213888	NM_152443.3(RDH12):c.148G>A (p.Gly50Ser)	GPHN, RDH12 (G50S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GConflicting classifications of pathogenicity
Select item 1172725	NM_152443.3(RDH12):c.529G>C (p.Ala177Pro)	GPHN, RDH12 (A177P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1213892	NM_152443.3(RDH12):c.607A>G (p.Ser203Gly)	GPHN, RDH12 (S203G)	Single nucleotide variant (missense variant)	Stargardt disease	GLikely pathogenic
Select item 1213889	NM_152443.3(RDH12):c.616G>A (p.Ala206Thr)	GPHN, RDH12 (A206T)	Single nucleotide variant (missense variant)	Macular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1213891	NM_152443.3(RDH12):c.667G>T (p.Val223Phe)	GPHN, RDH12 +1 more (V223F)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 536988	NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)	GPHN, RDH12 +1 more (R239L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GPathogenic/Likely pathogenic
Select item 1213890	NM_152443.3(RDH12):c.731T>C (p.Leu244Pro)	GPHN, RDH12 +1 more (L244P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance

ClinVar