"Baylor Genetics"[submitter] AND "CRB2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027873	NM_173689.7(CRB2):c.38C>T (p.Ala13Val)	CRB2 (A13V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1033209	NM_173689.7(CRB2):c.429C>T (p.Cys143=)	CRB2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 9	GUncertain significance
Select item 180699	NM_173689.7(CRB2):c.1859G>C (p.Cys620Ser)	CRB2 (C620S)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease	GUncertain significance
Select item 1027870	NM_173689.7(CRB2):c.2225G>A (p.Gly742Glu)	CRB2 (G742E)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease	GUncertain significance
Select item 1027871	NM_173689.7(CRB2):c.2314C>G (p.Leu772Val)	CRB2 (L772V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1033208	NM_173689.7(CRB2):c.2741C>T (p.Ala914Val)	CRB2 (A914V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1027872	NM_173689.7(CRB2):c.2914C>T (p.Arg972Cys)	CRB2 (R972C)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 9	GUncertain significance

ClinVar