"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CRB2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1457188	NM_173689.7(CRB2):c.315C>A (p.Cys105Ter)	CRB2 (C105*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 9 +2 more	GPathogenic/Likely pathogenic
Select item 727181	NM_173689.7(CRB2):c.516C>T (p.Cys172=)	CRB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 781188	NM_173689.7(CRB2):c.606G>A (p.Leu202=)	CRB2	Single nucleotide variant (synonymous variant)	Ventriculomegaly-cystic kidney disease +2 more	GBenign/Likely benign
Select item 1411224	NM_173689.7(CRB2):c.952G>A (p.Gly318Ser)	CRB2 (G318S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 745089	NM_173689.7(CRB2):c.1217C>T (p.Pro406Leu)	CRB2 (P406L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 773229	NM_173689.7(CRB2):c.1828C>T (p.Arg610Trp)	CRB2 (R610W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 774677	NM_173689.7(CRB2):c.2748C>T (p.Ala916=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	Ventriculomegaly-cystic kidney disease +2 more	GBenign/Likely benign
Select item 736780	NM_173689.7(CRB2):c.2789C>T (p.Ala930Val)	CRB2 (A930V)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease +2 more	GBenign/Likely benign
Select item 1167581	NM_173689.7(CRB2):c.2817G>C (p.Leu939=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1461533	NM_173689.7(CRB2):c.2821G>A (p.Gly941Ser)	CRB2 (G941S)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease +3 more	GUncertain significance
Select item 180701	NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)	CRB2 (G1036fs)	Duplication (frameshift variant +1 more)	CRB2-related disorder +4 more	GPathogenic/Likely pathogenic