C2675186[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931585	NM_152443.3(RDH12):c.377C>A (p.Ala126Glu)	GPHN, RDH12 (A126E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic/Likely pathogenic
Select item 2059	NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)	GPHN, RDH12 (T155I)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 655601	NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)	ZFYVE26, GPHN +1 more (R295*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic

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