C2931258[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96659	NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	CRB1	Deletion (inframe_deletion +1 more)	CRB1-related maculopathy +11 more	GConflicting classifications of pathogenicity
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)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 801599	NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)	CRB1 (G733fs +2 more)	Deletion (frameshift variant +2 more)	not provided +3 more	GPathogenic
Select item 801602	NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)	CRB1 (C1321G +3 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GLikely pathogenic
Select item 802243	NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)	LCA5 (A319T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 5 +2 more	GPathogenic/Likely pathogenic
Select item 1029696	NM_000180.4(GUCY2D):c.1220C>G (p.Thr407Arg)	GUCY2D (T407R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1	GUncertain significance

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