"Genomics England Pilot Project, Genomics England"[submitter] AND "GUC - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 98590	NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)	GUCY2D (E103K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis +3 more	GPathogenic/Likely pathogenic
Select item 9355	NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)	GUCY2D (R838C)	Single nucleotide variant (missense variant)	Choroidal dystrophy, central areolar, 1 +4 more	GPathogenic/Likely pathogenic
Select item 9357	NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)	GUCY2D (R838H)	Single nucleotide variant (missense variant)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 848290	NM_000180.4(GUCY2D):c.2837C>A (p.Ala946Glu)	GUCY2D (A946E)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 1184571	NM_000180.4(GUCY2D):c.2872A>C (p.Ser958Arg)	GUCY2D (S958R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1	GLikely pathogenic
Select item 1184616	NM_000180.4(GUCY2D):c.3043+5G>A	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1	GLikely pathogenic

ClinVar