"Medical Genetics, Meyer Children Hospital"[submitter] AND "RDH12"[gen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376516	NM_152443.3(RDH12):c.200A>G (p.Tyr67Cys)	GPHN, RDH12 (Y67C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 3376517	NM_152443.3(RDH12):c.668_669insGTCCCAGGCACCTCTTTGTCCCAGG (p.Thr224fs)	ZFYVE26, GPHN +1 more (T224fs)	Insertion (frameshift variant)	Leber congenital amaurosis 13	GLikely pathogenic