Related gene-specific medical variations for Gene (Select 286204) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362512	NM_173689.7(CRB2):c.2661GTC[1] (p.Ser889del)	CRB2 (S889del)	Microsatellite (non-coding transcript variant)	Focal segmental glomerulosclerosis 9	GUncertain significance
Select item 3361496	NM_173689.7(CRB2):c.1430G>A (p.Arg477His)	CRB2 (R477H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361495	NM_173689.7(CRB2):c.3632C>T (p.Ala1211Val)	CRB2 (A1211V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3245401	NC_000009.11:g.(?_126130487)_(126133028_?)del	CRB2	Deletion	not provided	GLikely pathogenic
Select item 3220913	NM_173689.7(CRB2):c.3262G>A (p.Gly1088Ser)	CRB2 (G1088S)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 9	GLikely pathogenic
Select item 2440539	NM_173689.7(CRB2):c.1220T>C (p.Leu407Pro)	CRB2 (L407P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440538	NM_173689.7(CRB2):c.998G>T (p.Gly333Val)	CRB2 (G333V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679728	NM_173689.7(CRB2):c.1054+2T>G	CRB2	Single nucleotide variant (splice donor variant)	Focal segmental glomerulosclerosis 9 +1 more	GLikely pathogenic
Select item 1322160	NM_173689.7(CRB2):c.2336del (p.Phe779fs)	CRB2 (F779fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 591554	NM_173689.7(CRB2):c.2902_2904dup (p.Ala968dup)	CRB2	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 591521	NM_173689.7(CRB2):c.34dup (p.Gln12fs)	CRB2 (Q12fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 591400	NM_173689.7(CRB2):c.1046G>A (p.Gly349Asp)	CRB2 (G349D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591201	NM_173689.7(CRB2):c.3700_3703del (p.Leu1234fs)	CRB2 (L1234fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance