C2931258[trait identifier] AND "Ocular Genomics Institute, Massachuset - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99913	NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	CRB1 (I136fs +1 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy +6 more	GPathogenic
Select item 372352	NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)	CRB1 (P836T +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +6 more	GConflicting classifications of pathogenicity
Select item 9355	NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)	GUCY2D (R838C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +4 more	GPathogenic/Likely pathogenic
Select item 1065694	NM_000180.4(GUCY2D):c.2804C>T (p.Ser935Leu)	GUCY2D (S935L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 98582	NM_000180.4(GUCY2D):c.2944+1del	GUCY2D	Deletion (splice donor variant)	Cone-rod dystrophy 6 +2 more	GPathogenic/Likely pathogenic
Select item 1065677	NM_000180.4(GUCY2D):c.2965G>C (p.Val989Leu)	GUCY2D (V989L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1	GUncertain significance

ClinVar