"PreventionGenetics, part of Exact Sciences"[submitter] AND "CRB2"[gen - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 729496	NM_173689.7(CRB2):c.5C>T (p.Ala2Val)	CRB2 (A2V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1027873	NM_173689.7(CRB2):c.38C>T (p.Ala13Val)	CRB2 (A13V)	Single nucleotide variant (missense variant)	CRB2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3031396	NM_173689.7(CRB2):c.138G>C (p.Pro46=)	CRB2	Single nucleotide variant (synonymous variant)	CRB2-related disorder	GLikely benign
Select item 3040927	NM_173689.7(CRB2):c.141C>T (p.Cys47=)	CRB2	Single nucleotide variant (synonymous variant)	CRB2-related disorder	GLikely benign
Select item 731614	NM_173689.7(CRB2):c.142G>A (p.Ala48Thr)	CRB2 (A48T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1136463	NM_173689.7(CRB2):c.153C>T (p.Thr51=)	CRB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1432119	NM_173689.7(CRB2):c.237C>T (p.Gly79=)	CRB2	Single nucleotide variant (synonymous variant)	CRB2-related disorder +1 more	GLikely benign
Select item 779094	NM_173689.7(CRB2):c.468G>A (p.Leu156=)	CRB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 749697	NM_173689.7(CRB2):c.471C>G (p.His157Gln)	CRB2 (H157Q)	Single nucleotide variant (missense variant)	CRB2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 727181	NM_173689.7(CRB2):c.516C>T (p.Cys172=)	CRB2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 3006809	NM_173689.7(CRB2):c.732C>T (p.Ser244=)	CRB2	Single nucleotide variant (synonymous variant)	CRB2-related disorder +1 more	GLikely benign
Select item 766143	NM_173689.7(CRB2):c.762C>T (p.Ser254=)	CRB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1544509	NM_173689.7(CRB2):c.765C>T (p.Gly255=)	CRB2	Single nucleotide variant (synonymous variant)	CRB2-related disorder +1 more	GBenign/Likely benign
Select item 713333	NM_173689.7(CRB2):c.855C>T (p.Tyr285=)	CRB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1077292	NM_173689.7(CRB2):c.883G>A (p.Ala295Thr)	CRB2 (A295T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2167095	NM_173689.7(CRB2):c.905C>T (p.Ala302Val)	CRB2 (A302V)	Single nucleotide variant (missense variant)	CRB2-related disorder +2 more	GBenign/Likely benign
Select item 3053514	NM_173689.7(CRB2):c.945C>T (p.Ala315=)	CRB2	Single nucleotide variant (synonymous variant)	CRB2-related disorder	GLikely benign
Select item 3043640	NM_173689.7(CRB2):c.951C>T (p.Cys317=)	CRB2	Single nucleotide variant (synonymous variant)	CRB2-related disorder	GLikely benign
Select item 1576581	NM_173689.7(CRB2):c.966C>T (p.Asp322=)	CRB2	Single nucleotide variant (synonymous variant)	CRB2-related disorder +1 more	GLikely benign
Select item 3030629	NM_173689.7(CRB2):c.1050C>T (p.Tyr350=)	CRB2	Single nucleotide variant (synonymous variant)	CRB2-related disorder	GLikely benign
Select item 728672	NM_173689.7(CRB2):c.1062A>T (p.Thr354=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2141134	NM_173689.7(CRB2):c.1092G>A (p.Ser364=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder +1 more	GLikely benign
Select item 3036366	NM_173689.7(CRB2):c.1128T>C (p.Thr376=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder	GLikely benign
Select item 3044544	NM_173689.7(CRB2):c.1170G>A (p.Gly390=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder	GLikely benign
Select item 788422	NM_173689.7(CRB2):c.1298C>T (p.Pro433Leu)	CRB2 (P433L)	Single nucleotide variant (missense variant +1 more)	CRB2-related disorder +2 more	GLikely benign
Select item 1119381	NM_173689.7(CRB2):c.1410C>T (p.Pro470=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1053694	NM_173689.7(CRB2):c.1429C>T (p.Arg477Cys)	CRB2 (R477C)	Single nucleotide variant (missense variant +1 more)	CRB2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1108914	NM_173689.7(CRB2):c.1453G>C (p.Glu485Gln)	CRB2 (E485Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1336040	NM_173689.7(CRB2):c.1494G>T (p.Trp498Cys)	CRB2 (W498C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2185884	NM_173689.7(CRB2):c.1586C>T (p.Ala529Val)	CRB2 (A529V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2168984	NM_173689.7(CRB2):c.1719C>T (p.Asp573=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2636853	NM_173689.7(CRB2):c.1781A>G (p.Asp594Gly)	CRB2 (D594G)	Single nucleotide variant (missense variant +1 more)	CRB2-related disorder	GUncertain significance
Select item 3043614	NM_173689.7(CRB2):c.1959C>T (p.Gly653=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder	GLikely benign
Select item 772939	NM_173689.7(CRB2):c.2043C>T (p.Ser681=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2959019	NM_173689.7(CRB2):c.2061G>A (p.Gln687=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3051257	NM_173689.7(CRB2):c.2098C>T (p.Leu700=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder	GLikely benign
Select item 1658186	NM_173689.7(CRB2):c.2116C>T (p.Arg706Trp)	CRB2 (R706W)	Single nucleotide variant (missense variant +1 more)	CRB2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3047146	NM_173689.7(CRB2):c.2208C>T (p.Asp736=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder	GLikely benign
Select item 2140219	NM_173689.7(CRB2):c.2379C>T (p.Leu793=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1569086	NM_173689.7(CRB2):c.2416G>A (p.Val806Ile)	CRB2 (V806I)	Single nucleotide variant (missense variant +1 more)	CRB2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1642785	NM_173689.7(CRB2):c.2519C>G (p.Pro840Arg)	CRB2 (P840R)	Single nucleotide variant (missense variant +1 more)	CRB2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2629627	NM_173689.7(CRB2):c.2551C>T (p.Gln851Ter)	CRB2 (Q851*)	Single nucleotide variant (nonsense +1 more)	CRB2-related disorder	GLikely pathogenic
Select item 3061607	NM_173689.7(CRB2):c.2603-10C>A	CRB2	Single nucleotide variant (intron variant)	CRB2-related disorder	GLikely benign
Select item 1626447	NM_173689.7(CRB2):c.2610G>A (p.Ala870=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder +1 more	GLikely benign
Select item 1164443	NM_173689.7(CRB2):c.2680G>A (p.Gly894Ser)	CRB2 (G894S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1135506	NM_173689.7(CRB2):c.2703C>A (p.Arg901=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder +1 more	GLikely benign
Select item 1421326	NM_173689.7(CRB2):c.2745C>T (p.Gly915=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3045927	NM_173689.7(CRB2):c.2758G>T (p.Val920Leu)	CRB2 (V920L)	Single nucleotide variant (missense variant +1 more)	CRB2-related disorder	GUncertain significance
Select item 2509677	NM_173689.7(CRB2):c.2758G>A (p.Val920Met)	CRB2 (V920M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 736780	NM_173689.7(CRB2):c.2789C>T (p.Ala930Val)	CRB2 (A930V)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 9 +3 more	GBenign/Likely benign
Select item 3061087	NM_173689.7(CRB2):c.2907C>T (p.Thr969=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder	GLikely benign
Select item 1656195	NM_173689.7(CRB2):c.2961C>T (p.Arg987=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1324169	NM_173689.7(CRB2):c.3089_3104del (p.Arg1030fs)	CRB2 (R1030fs)	Deletion (frameshift variant +1 more)	CRB2-related disorder +1 more	GLikely pathogenic
Select item 789303	NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe)	CRB2 (S1043F)	Single nucleotide variant (missense variant +1 more)	CRB2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1104955	NM_173689.7(CRB2):c.3225C>T (p.Phe1075=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder +1 more	GLikely benign
Select item 3054445	NM_173689.7(CRB2):c.3243C>T (p.Ala1081=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder	GLikely benign
Select item 967245	NM_173689.7(CRB2):c.3274G>A (p.Glu1092Lys)	CRB2 (E1092K)	Single nucleotide variant (missense variant +1 more)	CRB2-related disorder +1 more	GUncertain significance
Select item 419404	NM_173689.7(CRB2):c.3291_3292del (p.Cys1098fs)	CRB2 (C1098fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 725233	NM_173689.7(CRB2):c.3296A>T (p.His1099Leu)	CRB2 (H1099L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 718948	NM_173689.7(CRB2):c.3325C>G (p.His1109Asp)	CRB2 (H1109D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2634676	NM_173689.7(CRB2):c.3343C>T (p.Arg1115Cys)	CRB2 (R1115C)	Single nucleotide variant (missense variant +1 more)	CRB2-related disorder	GUncertain significance
Select item 1642786	NM_173689.7(CRB2):c.3373G>T (p.Gly1125Trp)	CRB2 (G1125W)	Single nucleotide variant (missense variant +1 more)	CRB2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2443098	NM_173689.7(CRB2):c.3382C>T (p.Arg1128Cys)	CRB2 (R1128C)	Single nucleotide variant (missense variant +1 more)	CRB2-related disorder	GUncertain significance
Select item 736526	NM_173689.7(CRB2):c.3466G>A (p.Ala1156Thr)	CRB2 (A1156T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3030582	NM_173689.7(CRB2):c.3555G>C (p.Gly1185=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder	GLikely benign
Select item 3036678	NM_173689.7(CRB2):c.3565C>A (p.Arg1189=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder	GLikely benign
Select item 3036531	NM_173689.7(CRB2):c.3612C>T (p.Ser1204=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder	GLikely benign
Select item 3029627	NM_173689.7(CRB2):c.3642G>C (p.Leu1214=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder	GLikely benign
Select item 3031867	NM_173689.7(CRB2):c.3651G>A (p.Pro1217=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder	GLikely benign
Select item 725319	NM_173689.7(CRB2):c.3678C>T (p.Ala1226=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1108885	NM_173689.7(CRB2):c.3699CCT[7] (p.Leu1239dup)	CRB2	Microsatellite (inframe_insertion +1 more)	CRB2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 721393	NM_173689.7(CRB2):c.3754C>T (p.Arg1252Cys)	CRB2 (R1252C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2892421	NM_173689.7(CRB2):c.3839C>T (p.Pro1280Leu)	CRB2 (P1280L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2636852	NM_173689.7(CRB2):c.3846_3849del (p.Glu1282fs)	CRB2 (E1282fs)	Microsatellite (frameshift variant +1 more)	CRB2-related disorder	GUncertain significance

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Items: 74