"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ZIC2"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1346003	NM_007129.5(ZIC2):c.1A>T (p.Met1Leu)	ZIC2 (M1L)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 5	GUncertain significance
Select item 2809173	NM_007129.5(ZIC2):c.2T>C (p.Met1Thr)	ZIC2 (M1T)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 5	GUncertain significance
Select item 1922809	NM_007129.5(ZIC2):c.6C>T (p.Leu2=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 1472362	NM_007129.5(ZIC2):c.14C>T (p.Ala5Val)	ZIC2 (A5V)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2084085	NM_007129.5(ZIC2):c.27C>T (p.Phe9=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 716735	NM_007129.5(ZIC2):c.39G>A (p.Gly13=)	ZIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360898	NM_007129.5(ZIC2):c.41T>C (p.Val14Ala)	ZIC2 (V14A)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 1385283	NM_007129.5(ZIC2):c.52G>C (p.Ala18Pro)	ZIC2 (A18P)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 1990898	NM_007129.5(ZIC2):c.54G>T (p.Ala18=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2193791	NM_007129.5(ZIC2):c.57C>T (p.Arg19=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2744216	NM_007129.5(ZIC2):c.78GGC[6] (p.Ala33_Glu34insAla)	ZIC2	Microsatellite (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 1382984	NM_007129.5(ZIC2):c.78GGC[2] (p.Ala31_Ala33del)	ZIC2	Microsatellite (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 2244731	NM_007129.5(ZIC2):c.77C>G (p.Ala26Gly)	ZIC2 (A26G)	Single nucleotide variant (missense variant)	Holoprosencephaly 5 +1 more	GUncertain significance
Select item 1417640	NM_007129.5(ZIC2):c.80C>T (p.Ala27Val)	ZIC2 (A27V)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 3013771	NM_007129.5(ZIC2):c.95CCG[4] (p.Ala33_Glu34insAlaAla)	ZIC2	Microsatellite (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 1932062	NM_007129.5(ZIC2):c.102G>A (p.Glu34=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2736050	NM_007129.5(ZIC2):c.109G>A (p.Asp37Asn)	ZIC2 (D37N)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 3006954	NM_007129.5(ZIC2):c.112C>G (p.Arg38Gly)	ZIC2 (R38G)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 1365371	NM_007129.5(ZIC2):c.143G>A (p.Gly48Asp)	ZIC2 (G48D)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2840275	NM_007129.5(ZIC2):c.147C>G (p.Phe49Leu)	ZIC2 (F49L)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 1050949	NM_007129.5(ZIC2):c.157G>C (p.Ala53Pro)	ZIC2 (A53P)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 1714927	NM_007129.5(ZIC2):c.167A>C (p.His56Pro)	ZIC2 (H56P)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2714184	NM_007129.5(ZIC2):c.176C>A (p.Ala59Asp)	ZIC2 (A59D)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2898948	NM_007129.5(ZIC2):c.192G>C (p.Pro64=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2196725	NM_007129.5(ZIC2):c.195C>T (p.Gly65=)	ZIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2148646	NM_007129.5(ZIC2):c.210C>G (p.Ser70=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 260131	NM_007129.5(ZIC2):c.213G>A (p.Pro71=)	ZIC2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 971307	NM_007129.5(ZIC2):c.230_236delinsCA (p.Phe77fs)	ZIC2 (F77fs)	Indel (frameshift variant)	Holoprosencephaly 5	GPathogenic
Select item 2160985	NM_007129.5(ZIC2):c.231C>G (p.Phe77Leu)	ZIC2 (F77L)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2690459	NM_007129.5(ZIC2):c.242_253dup (p.Ala84_Tyr85insCysProGlyAla)	ZIC2	Duplication (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 1413309	NM_007129.5(ZIC2):c.260G>A (p.Gly87Asp)	ZIC2 (G87D)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 1659523	NM_007129.5(ZIC2):c.261C>T (p.Gly87=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2905405	NM_007129.5(ZIC2):c.273_284del (p.Ala94_Ala97del)	ZIC2	Deletion (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 1495498	NM_007129.5(ZIC2):c.265G>C (p.Ala89Pro)	ZIC2 (A89P)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2917848	NM_007129.5(ZIC2):c.282G>T (p.Ala94=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 260132	NM_007129.5(ZIC2):c.282G>C (p.Ala94=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5 +1 more	GLikely benign
Select item 1628759	NM_007129.5(ZIC2):c.297G>A (p.Gly99=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2836674	NM_007129.5(ZIC2):c.298C>T (p.Pro100Ser)	ZIC2 (P100S)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2193573	NM_007129.5(ZIC2):c.300C>T (p.Pro100=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2712888	NM_007129.5(ZIC2):c.330G>A (p.Gly110=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 753330	NM_007129.5(ZIC2):c.348C>A (p.Thr116=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2850761	NM_007129.5(ZIC2):c.358C>T (p.Leu120=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 3008317	NM_007129.5(ZIC2):c.363C>A (p.Phe121Leu)	ZIC2 (F121L)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2704755	NM_007129.5(ZIC2):c.393G>T (p.Pro131=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 3020320	NM_007129.5(ZIC2):c.399C>T (p.Gly133=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2078004	NM_007129.5(ZIC2):c.412C>T (p.Leu138=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 715123	NM_007129.5(ZIC2):c.420G>A (p.Gly140=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2727884	NM_007129.5(ZIC2):c.441C>T (p.His147=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2756430	NM_007129.5(ZIC2):c.447_611dup (p.Pro204_Tyr205insHisSerAspAlaGlnGlyHisLeuLeuPheProGlyLeuProGluGlnHisGlyProHisGlySerGlnAsnValLeuAsnGlyGlnMetArgLeuGlyLeuProGlyGluValPheGlyArgSerGluGlnTyrArgGlnValAlaSerProArgThrAspPro)	ZIC2	Duplication (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 2889935	NM_007129.5(ZIC2):c.450C>T (p.His150=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 1044719	NM_007129.5(ZIC2):c.450C>G (p.His150Gln)	ZIC2 (H150Q)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 387733	NM_007129.5(ZIC2):c.459G>T (p.Ala153=)	ZIC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2176681	NM_007129.5(ZIC2):c.463G>A (p.Gly155Ser)	ZIC2 (G155S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2860822	NM_007129.5(ZIC2):c.465C>A (p.Gly155=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2979030	NM_007129.5(ZIC2):c.472C>T (p.Leu158Phe)	ZIC2 (L158F)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2889677	NM_007129.5(ZIC2):c.480G>C (p.Pro160=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2058691	NM_007129.5(ZIC2):c.489A>G (p.Pro163=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5 +1 more	GLikely benign
Select item 2356761	NM_007129.5(ZIC2):c.497A>G (p.His166Arg)	ZIC2 (H166R)	Single nucleotide variant (missense variant)	Holoprosencephaly 5 +1 more	GLikely benign
Select item 2957601	NM_007129.5(ZIC2):c.506A>T (p.His169Leu)	ZIC2 (H169L)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2202568	NM_007129.5(ZIC2):c.507C>T (p.His169=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 1357156	NM_007129.5(ZIC2):c.507C>A (p.His169Gln)	ZIC2 (H169Q)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 1138726	NM_007129.5(ZIC2):c.522G>T (p.Val174=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2805454	NM_007129.5(ZIC2):c.525C>T (p.Leu175=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 260133	NM_007129.5(ZIC2):c.528C>T (p.Asn176=)	ZIC2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2171509	NM_007129.5(ZIC2):c.543C>G (p.Leu181=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 702112	NM_007129.5(ZIC2):c.546G>T (p.Gly182=)	ZIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1560978	NM_007129.5(ZIC2):c.552C>G (p.Pro184=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 715094	NM_007129.5(ZIC2):c.552C>T (p.Pro184=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 1368004	NM_007129.5(ZIC2):c.553G>A (p.Gly185Ser)	ZIC2 (G185S)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2725829	NM_007129.5(ZIC2):c.554G>A (p.Gly185Asp)	ZIC2 (G185D)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2040292	NM_007129.5(ZIC2):c.601C>A (p.Arg201=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2741489	NM_007129.5(ZIC2):c.615C>T (p.Tyr205=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 381533	NM_007129.5(ZIC2):c.627A>G (p.Gln209=)	ZIC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1630579	NM_007129.5(ZIC2):c.642C>T (p.Tyr214=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 546554	NM_007129.5(ZIC2):c.665_676del (p.Gly222_Met225del)	ZIC2	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 3018998	NM_007129.5(ZIC2):c.660C>T (p.Asn220=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 1000901	NM_007129.5(ZIC2):c.673A>G (p.Met225Val)	ZIC2 (M225V)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 1436681	NM_007129.5(ZIC2):c.683C>G (p.Ala228Gly)	ZIC2 (A228G)	Single nucleotide variant (missense variant)	Holoprosencephaly 5 +1 more	GUncertain significance
Select item 1541990	NM_007129.5(ZIC2):c.687G>A (p.Ala229=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 1508888	NM_007129.5(ZIC2):c.692ACC[11] (p.His238_His239dup)	ZIC2	Microsatellite (inframe_insertion)	Holoprosencephaly 5 +1 more	GUncertain significance
Select item 1407690	NM_007129.5(ZIC2):c.692ACC[12] (p.His237_His239dup)	ZIC2	Microsatellite (inframe_insertion)	Holoprosencephaly 5 +1 more	GUncertain significance
Select item 95448	NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup)	ZIC2	Microsatellite (inframe_insertion)	not specified +2 more	GBenign/Likely benign
Select item 2186102	NM_007129.5(ZIC2):c.692ACC[7] (p.His238_His239del)	ZIC2	Microsatellite (inframe_deletion)	Holoprosencephaly 5 +1 more	GUncertain significance
Select item 1658523	NM_007129.5(ZIC2):c.692ACC[8] (p.His239del)	ZIC2 (H239del)	Microsatellite (inframe_deletion)	Holoprosencephaly 5	GBenign
Select item 1374904	NM_007129.5(ZIC2):c.692ACC[5] (p.His236_His239del)	ZIC2	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1002415	NM_007129.5(ZIC2):c.692ACC[6] (p.His237_His239del)	ZIC2	Microsatellite (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 2807336	NM_007129.5(ZIC2):c.707A>G (p.His236Arg)	ZIC2 (H236R)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2034810	NM_007129.5(ZIC2):c.722del (p.Gly241fs)	ZIC2 (G241fs)	Deletion (frameshift variant)	Holoprosencephaly 5	GPathogenic
Select item 1338335	NM_007129.5(ZIC2):c.739A>G (p.Met247Val)	ZIC2 (M247V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1120313	NM_007129.5(ZIC2):c.744G>A (p.Arg248=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2816398	NM_007129.5(ZIC2):c.754A>G (p.Ile252Val)	ZIC2 (I252V)	Single nucleotide variant (missense variant)	Holoprosencephaly 5 +1 more	GUncertain significance
Select item 2081587	NM_007129.5(ZIC2):c.762G>A (p.Gln254=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2146989	NM_007129.5(ZIC2):c.771C>T (p.Ile257=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5 +1 more	GLikely benign
Select item 2760100	NM_007129.5(ZIC2):c.773G>A (p.Cys258Tyr)	ZIC2 (C258Y)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GPathogenic
Select item 2818298	NM_007129.5(ZIC2):c.795A>G (p.Gln265=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2818301	NM_007129.5(ZIC2):c.804T>C (p.Asn268=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2821158	NM_007129.5(ZIC2):c.809A>G (p.Lys270Arg)	ZIC2 (K270R)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2818303	NM_007129.5(ZIC2):c.810G>A (p.Lys270=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2063514	NM_007129.5(ZIC2):c.810G>C (p.Lys270Asn)	ZIC2 (K270N)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2818305	NM_007129.5(ZIC2):c.813G>A (p.Lys271=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign

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