ClinVar for Gene (Select 4998) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3303495	NM_004153.4(ORC1):c.35A>G (p.Lys12Arg)	ORC1 (K12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3303492	NM_004153.4(ORC1):c.1351T>G (p.Leu451Val)	ORC1 (L451V)	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 3206938	NM_004153.4(ORC1):c.992G>A (p.Arg331Lys)	ORC1 (R331K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3206936	NM_004153.4(ORC1):c.83A>G (p.Tyr28Cys)	ORC1 (Y28C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3206933	NM_004153.4(ORC1):c.430G>A (p.Val144Ile)	ORC1 (V144I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3206931	NM_004153.4(ORC1):c.254G>A (p.Arg85Gln)	ORC1 (R85Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3206929	NM_004153.4(ORC1):c.232C>G (p.Pro78Ala)	ORC1 (P78A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067926	NM_004153.4(ORC1):c.464T>C (p.Phe155Ser)	ORC1 (F155S)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 3018727	NM_004153.4(ORC1):c.1380G>A (p.Lys460=)	ORC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3016976	NM_004153.4(ORC1):c.1578C>T (p.Thr526=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007744	NM_004153.4(ORC1):c.2014-8C>T	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007280	NM_004153.4(ORC1):c.703_704del (p.Lys235fs)	ORC1 (K235fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2990864	NM_004153.4(ORC1):c.1812A>G (p.Gln604=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989715	NM_004153.4(ORC1):c.1863+14G>C	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989657	NM_004153.4(ORC1):c.378G>A (p.Ala126=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988848	NM_004153.4(ORC1):c.224-19T>C	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988820	NM_004153.4(ORC1):c.522G>A (p.Ala174=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976702	NM_004153.4(ORC1):c.1278T>G (p.Ala426=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976685	NM_004153.4(ORC1):c.1584-12C>T	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970231	NM_004153.4(ORC1):c.84C>T (p.Tyr28=)	ORC1	Single nucleotide variant (synonymous variant)	ORC1-related disorder +1 more	GLikely benign
Select item 2970007	NM_004153.4(ORC1):c.1503T>C (p.Pro501=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969104	NM_004153.4(ORC1):c.961C>T (p.Arg321Ter)	ORC1 (R321*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2967843	NM_004153.4(ORC1):c.1863+16G>A	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967487	NM_004153.4(ORC1):c.33A>G (p.Arg11=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964854	NM_004153.4(ORC1):c.721+16G>T	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963121	NM_004153.4(ORC1):c.1339T>C (p.Leu447=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959482	NM_004153.4(ORC1):c.2391+6CTC[2]	ORC1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2957738	NM_004153.4(ORC1):c.1810C>T (p.Gln604Ter)	ORC1 (Q599* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2906528	NM_004153.4(ORC1):c.1266C>T (p.Asp422=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896425	NM_004153.4(ORC1):c.1932G>A (p.Glu644=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890173	NM_004153.4(ORC1):c.1398G>T (p.Thr466=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888410	NM_004153.4(ORC1):c.2273T>C (p.Met758Thr)	ORC1 (M753T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873337	NM_004153.4(ORC1):c.2193_2194del (p.Glu731fs)	ORC1 (E726fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2872458	NM_004153.4(ORC1):c.591A>G (p.Ala197=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858209	NM_004153.4(ORC1):c.2013+19C>T	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843923	NM_004153.4(ORC1):c.1863+10C>T	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819535	NM_004153.4(ORC1):c.1383+19del	ORC1	Deletion (intron variant)	not provided	GLikely benign
Select item 2803013	NM_004153.4(ORC1):c.991A>C (p.Arg331=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801473	NM_004153.4(ORC1):c.2304-8C>A	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799088	NM_004153.4(ORC1):c.2043T>C (p.Tyr681=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798400	NM_004153.4(ORC1):c.1383+20A>T	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784145	NM_004153.4(ORC1):c.1864-5G>T	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778306	NM_004153.4(ORC1):c.1863+13T>G	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2710152	NM_004153.4(ORC1):c.1383+7T>C	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694906	NM_004153.4(ORC1):c.603T>C (p.Ser201=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638816	NM_004153.4(ORC1):c.567C>T (p.Pro189=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638815	NM_004153.4(ORC1):c.1005A>G (p.Thr335=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 2535484	NM_004153.4(ORC1):c.1277C>G (p.Ala426Gly)	ORC1 (A426G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2526980	NM_004153.4(ORC1):c.440A>G (p.Asn147Ser)	ORC1 (N147S)	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 2489650	NM_004153.4(ORC1):c.186C>A (p.Asn62Lys)	ORC1 (N62K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441664	NM_004153.4(ORC1):c.688dup (p.Thr230fs)	ORC1 (T230fs)	Duplication (frameshift variant)	Meier-Gorlin syndrome 1	GLikely pathogenic
Select item 2413967	NM_004153.4(ORC1):c.1599C>T (p.Ser533=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2322510	NM_004153.4(ORC1):c.104G>T (p.Cys35Phe)	ORC1 (C35F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2279065	NM_004153.4(ORC1):c.434C>T (p.Pro145Leu)	ORC1 (P145L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2181321	NM_004153.4(ORC1):c.665G>A (p.Arg222His)	ORC1 (R222H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173436	NM_004153.4(ORC1):c.1540A>G (p.Ile514Val)	ORC1 (I509V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2162654	NM_004153.4(ORC1):c.501A>G (p.Pro167=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2151874	NM_004153.4(ORC1):c.2422A>G (p.Met808Val)	ORC1 (M803V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123946	NM_004153.4(ORC1):c.1499T>C (p.Val500Ala)	ORC1 (V495A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120543	NM_004153.4(ORC1):c.1587C>T (p.Cys529=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117074	NM_004153.4(ORC1):c.117A>C (p.Glu39Asp)	ORC1 (E39D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105228	NM_004153.4(ORC1):c.1868A>G (p.Asp623Gly)	ORC1 (D623G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104921	NM_004153.4(ORC1):c.224-14C>T	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2102960	NM_004153.4(ORC1):c.8A>C (p.His3Pro)	ORC1 (H3P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098157	NM_004153.4(ORC1):c.1188-13C>T	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2091156	NM_004153.4(ORC1):c.1384-17C>G	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2090381	NM_004153.4(ORC1):c.2173_2176dup (p.Cys726fs)	ORC1 (C721fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2084370	NM_004153.4(ORC1):c.1322G>T (p.Arg441Met)	ORC1 (R441M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075940	NM_004153.4(ORC1):c.1423C>T (p.Arg475Cys)	ORC1 (R470C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066427	NM_004153.4(ORC1):c.968C>T (p.Ala323Val)	ORC1 (A323V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050301	NM_004153.4(ORC1):c.120T>A (p.Gly40=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043175	NM_004153.4(ORC1):c.522G>C (p.Ala174=)	ORC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2041470	NM_004153.4(ORC1):c.1288C>G (p.Pro430Ala)	ORC1 (P430A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016255	NM_004153.4(ORC1):c.1187+11T>A	ORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2012867	NM_004153.4(ORC1):c.1565T>C (p.Leu522Pro)	ORC1 (L517P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010151	NM_004153.4(ORC1):c.875C>T (p.Ala292Val)	ORC1 (A292V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2008156	NM_004153.4(ORC1):c.2259A>T (p.Glu753Asp)	ORC1 (E748D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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