"Ambry Genetics"[submitter] AND "ORC1"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3206932	NM_004153.4(ORC1):c.2554G>T (p.Asp852Tyr)	ORC1 (D847Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517651	NM_004153.4(ORC1):c.2530C>T (p.Arg844Trp)	ORC1 (R844W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1002759	NM_004153.4(ORC1):c.2513G>C (p.Arg838Thr)	ORC1 (R833T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3206930	NM_004153.4(ORC1):c.2471C>G (p.Ser824Cys)	ORC1 (S819C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 225109	NM_004153.4(ORC1):c.2392-1G>T	ORC1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2558466	NM_004153.4(ORC1):c.2354T>G (p.Phe785Cys)	ORC1 (F785C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1396254	NM_004153.4(ORC1):c.2294C>T (p.Thr765Met)	ORC1 (T760M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2534474	NM_004153.4(ORC1):c.2284T>C (p.Ser762Pro)	ORC1 (S762P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1464221	NM_004153.4(ORC1):c.2254A>G (p.Met752Val)	ORC1 (M752V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2304755	NM_004153.4(ORC1):c.2170G>A (p.Asp724Asn)	ORC1 (D719N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303496	NM_004153.4(ORC1):c.2108A>G (p.Asp703Gly)	ORC1 (D698G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1916758	NM_004153.4(ORC1):c.2078G>A (p.Arg693Gln)	ORC1 (R688Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2337515	NM_004153.4(ORC1):c.2062C>G (p.Gln688Glu)	ORC1 (Q683E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551865	NM_004153.4(ORC1):c.1982G>T (p.Arg661Leu)	ORC1 (R656L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284423	NM_004153.4(ORC1):c.1926T>A (p.His642Gln)	ORC1 (H637Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3303493	NM_004153.4(ORC1):c.1812A>C (p.Gln604His)	ORC1 (Q599H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 875829	NM_004153.4(ORC1):c.1645C>T (p.Arg549Cys)	ORC1 (R544C +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +2 more	GUncertain significance
Select item 3303494	NM_004153.4(ORC1):c.1506G>C (p.Glu502Asp)	ORC1 (E502D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 875830	NM_004153.4(ORC1):c.1466A>T (p.Glu489Val)	ORC1 (E484V +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +2 more	GUncertain significance
Select item 297583	NM_004153.4(ORC1):c.1430G>A (p.Arg477Gln)	ORC1 (R477Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1390706	NM_004153.4(ORC1):c.1411G>A (p.Ala471Thr)	ORC1 (A471T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3303492	NM_004153.4(ORC1):c.1351T>G (p.Leu451Val)	ORC1 (L451V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535484	NM_004153.4(ORC1):c.1277C>G (p.Ala426Gly)	ORC1 (A426G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 876822	NM_004153.4(ORC1):c.1196G>A (p.Gly399Asp)	ORC1 (G399D)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +2 more	GUncertain significance
Select item 1929500	NM_004153.4(ORC1):c.1168C>T (p.Arg390Trp)	ORC1 (R390W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3206938	NM_004153.4(ORC1):c.992G>A (p.Arg331Lys)	ORC1 (R331K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1381417	NM_004153.4(ORC1):c.947T>A (p.Ile316Lys)	ORC1 (I316K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3206937	NM_004153.4(ORC1):c.905C>T (p.Ser302Phe)	ORC1 (S302F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2169942	NM_004153.4(ORC1):c.784A>G (p.Ile262Val)	ORC1 (I262V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2233925	NM_004153.4(ORC1):c.752C>T (p.Thr251Ile)	ORC1 (T251I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 225082	NM_004153.4(ORC1):c.721+1G>C	ORC1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 3206934	NM_004153.4(ORC1):c.644G>A (p.Arg215Lys)	ORC1 (R215K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303491	NM_004153.4(ORC1):c.614C>G (p.Ala205Gly)	ORC1 (A205G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 874013	NM_004153.4(ORC1):c.556T>C (p.Cys186Arg)	ORC1 (C186R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2597050	NM_004153.4(ORC1):c.521C>T (p.Ala174Val)	ORC1 (A174V)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +1 more	GUncertain significance
Select item 2526980	NM_004153.4(ORC1):c.440A>G (p.Asn147Ser)	ORC1 (N147S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279065	NM_004153.4(ORC1):c.434C>T (p.Pro145Leu)	ORC1 (P145L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3206933	NM_004153.4(ORC1):c.430G>A (p.Val144Ile)	ORC1 (V144I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 129862	NM_004153.4(ORC1):c.400C>T (p.Arg134Trp)	ORC1 (R134W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1051240	NM_004153.4(ORC1):c.353C>T (p.Pro118Leu)	ORC1 (P118L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2542701	NM_004153.4(ORC1):c.298C>T (p.Arg100Trp)	ORC1 (R100W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 874948	NM_004153.4(ORC1):c.289G>T (p.Ala97Ser)	ORC1 (A97S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3206931	NM_004153.4(ORC1):c.254G>A (p.Arg85Gln)	ORC1 (R85Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403248	NM_004153.4(ORC1):c.248G>A (p.Arg83His)	ORC1 (R83H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3206929	NM_004153.4(ORC1):c.232C>G (p.Pro78Ala)	ORC1 (P78A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489650	NM_004153.4(ORC1):c.186C>A (p.Asn62Lys)	ORC1 (N62K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322510	NM_004153.4(ORC1):c.104G>T (p.Cys35Phe)	ORC1 (C35F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3206936	NM_004153.4(ORC1):c.83A>G (p.Tyr28Cys)	ORC1 (Y28C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618990	NM_004153.4(ORC1):c.71G>A (p.Arg24Gln)	ORC1 (R24Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3303495	NM_004153.4(ORC1):c.35A>G (p.Lys12Arg)	ORC1 (K12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 50