"Genome-Nilou Lab"[submitter] AND "GPHN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1209662	NM_152443.3(RDH12):c.92G>A (p.Cys31Tyr)	GPHN, RDH12 (C31Y)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2050	NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)	GPHN, RDH12 (R62*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13 +3 more	GPathogenic
Select item 1177542	NM_152443.3(RDH12):c.187+60G>A	GPHN, RDH12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177543	NM_152443.3(RDH12):c.344-115G>C	GPHN, RDH12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1209661	NM_152443.3(RDH12):c.345G>C (p.Glu115Asp)	GPHN, RDH12 (E115D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 313838	NM_152443.3(RDH12):c.482G>A (p.Arg161Gln)	GPHN, RDH12 (R161Q)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +5 more	GBenign/Likely benign

ClinVar