"Clinical Genetics, Academic Medical Center"[submitter] AND "GUCY2D"[g - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 9353	NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)	GUCY2D (A52S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +5 more	GBenign
Select item 143061	NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met)	GUCY2D (T55M)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GConflicting classifications of pathogenicity
Select item 195031	NM_000180.4(GUCY2D):c.369C>T (p.Gly123=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +2 more	GConflicting classifications of pathogenicity
Select item 593312	NM_000180.4(GUCY2D):c.921C>T (p.Ala307=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 98539	NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 1121980	NM_000180.4(GUCY2D):c.1518C>T (p.Thr506=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 772052	NM_000180.4(GUCY2D):c.1938C>T (p.Leu646=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 859216	NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser)	GUCY2D (G727S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +4 more	GUncertain significance