"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 974670	NM_000180.4(GUCY2D):c.743C>T (p.Ser248Leu)	GUCY2D (S248L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 642720	NM_000180.4(GUCY2D):c.914del (p.His305fs)	GUCY2D (H305fs)	Deletion (frameshift variant)	Cone-rod dystrophy 6 +2 more	GPathogenic/Likely pathogenic
Select item 3065259	NM_000180.4(GUCY2D):c.1001T>G (p.Leu334Arg)	GUCY2D (L334R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1	GUncertain significance
Select item 3067973	NM_000180.4(GUCY2D):c.1401dup (p.Leu468fs)	GUCY2D (L468fs)	Duplication (frameshift variant)	Leber congenital amaurosis 1	GLikely pathogenic
Select item 2137915	NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)	GUCY2D (R588W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 98584	NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp)	GUCY2D (R995W)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic

ClinVar