"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931521	NM_000180.4(GUCY2D):c.40C>G (p.Pro14Ala)	GUCY2D (P14A)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 283615	NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)	GUCY2D	Deletion (inframe_deletion)	Choroidal dystrophy, central areolar, 1 +7 more	GConflicting classifications of pathogenicity
Select item 374028	NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg)	GUCY2D (G439R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +5 more	GConflicting classifications of pathogenicity
Select item 444398	NM_000180.4(GUCY2D):c.1566+3G>T	GUCY2D	Single nucleotide variant (intron variant)	Choroidal dystrophy, central areolar, 1 +3 more	GUncertain significance
Select item 931936	NM_000180.4(GUCY2D):c.1567-15A>T	GUCY2D	Single nucleotide variant (intron variant)	Choroidal dystrophy, central areolar, 1	GUncertain significance
Select item 931063	NM_000180.4(GUCY2D):c.1974C>A (p.His658Gln)	GUCY2D (H658Q)	Single nucleotide variant (missense variant)	Choroidal dystrophy, central areolar, 1	GUncertain significance
Select item 9355	NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)	GUCY2D (R838C)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +4 more	GPathogenic/Likely pathogenic

ClinVar