"Institute of Medical Molecular Genetics, University of Zurich"[submit - 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)	Autosomal recessive bestrophinopathy +9 more	GPathogenic/Likely pathogenic
Select item 866194	NM_201253.3(CRB1):c.547T>C (p.Cys183Arg)	CRB1 (C114R +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 963360	NM_201253.3(CRB1):c.1472A>T (p.Asp491Val)	CRB1 (D379V +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GConflicting classifications of pathogenicity
Select item 635155	NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	CRB1 (R744* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8 +3 more	GPathogenic/Likely pathogenic
Select item 5732	NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	CRB1 (R764C +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +8 more	GPathogenic/Likely pathogenic
Select item 1048130	NM_201253.3(CRB1):c.2298G>A (p.Trp766Ter)	CRB1 (W654* +2 more)	Single nucleotide variant (nonsense +2 more)	CRB1-related maculopathy	GLikely pathogenic
Select item 1048144	NM_201253.3(CRB1):c.2687G>C (p.Cys896Ser)	CRB1 (C784S +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic

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