ClinVar for MedGen (Select 355304) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064502	NM_007129.5(ZIC2):c.1204_1214del (p.Tyr402fs)	ZIC2 (Y402fs)	Deletion (frameshift 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 3019576	NM_007129.5(ZIC2):c.1432G>A (p.Gly478Arg)	ZIC2 (G478R)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	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 3018551	NM_007129.5(ZIC2):c.1573T>A (p.Ser525Thr)	ZIC2 (S525T)	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 3008317	NM_007129.5(ZIC2):c.363C>A (p.Phe121Leu)	ZIC2 (F121L)	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 2995801	NM_007129.5(ZIC2):c.1257G>T (p.Pro419=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2990499	NM_007129.5(ZIC2):c.1599_*4dup (p.Ter533=)	ZIC2	Duplication (no sequence alteration)	Holoprosencephaly 5	GUncertain significance
Select item 2987724	NM_007129.5(ZIC2):c.1519_1539del (p.Gly507_Gly513del)	ZIC2	Deletion (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 2986600	NM_007129.5(ZIC2):c.1490G>C (p.Gly497Ala)	ZIC2 (G497A)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2980169	NM_007129.5(ZIC2):c.1335C>G (p.Ala445=)	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 2957601	NM_007129.5(ZIC2):c.506A>T (p.His169Leu)	ZIC2 (H169L)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2918383	NM_007129.5(ZIC2):c.1517G>A (p.Gly506Asp)	ZIC2 (G506D)	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 2912954	NM_007129.5(ZIC2):c.1076-8G>A	ZIC2	Single nucleotide variant (intron variant)	Holoprosencephaly 5	GLikely benign
Select item 2908653	NM_007129.5(ZIC2):c.1383_1406del (p.Ala463_Ala470del)	LOC110008580, ZIC2	Deletion (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 2905405	NM_007129.5(ZIC2):c.273_284del (p.Ala94_Ala97del)	ZIC2	Deletion (inframe_deletion)	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 2893950	NM_007129.5(ZIC2):c.1380GGC[1] (p.Ala468_Ala470del)	LOC110008580, ZIC2	Microsatellite (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 2891101	NM_007129.5(ZIC2):c.1365AGCGGCGGCGGC[3] (p.Ala470_Val471insAlaAlaAlaAla)	ZIC2	Microsatellite (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 2889677	NM_007129.5(ZIC2):c.480G>C (p.Pro160=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2889193	NM_007129.5(ZIC2):c.1119C>T (p.Arg373=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2888343	NM_007129.5(ZIC2):c.972C>T (p.Ile324=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2887231	NM_007129.5(ZIC2):c.1240-11T>C	ZIC2	Single nucleotide variant (intron variant)	Holoprosencephaly 5	GLikely benign
Select item 2882340	NM_007129.5(ZIC2):c.1373C>T (p.Ala458Val)	LOC110008580, ZIC2 (A458V)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2882232	NM_007129.5(ZIC2):c.1320G>T (p.Leu440=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2869982	NM_007129.5(ZIC2):c.1468GGC[5] (p.Gly492_Ser493insGlyGly)	ZIC2	Microsatellite (inframe_insertion)	Holoprosencephaly 5	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 2854545	NM_007129.5(ZIC2):c.1164C>A (p.Thr388=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2854484	NM_007129.5(ZIC2):c.1392_1406dup (p.Ala470_Val471insAlaAlaAlaAlaAla)	LOC110008580, ZIC2	Duplication (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 2851481	NM_007129.5(ZIC2):c.1380GGC[3] (p.Ala470del)	LOC110008580, ZIC2 (A470del)	Microsatellite (inframe_deletion)	Holoprosencephaly 5 +1 more	GConflicting classifications of pathogenicity
Select item 2850761	NM_007129.5(ZIC2):c.358C>T (p.Leu120=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
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 2838422	NM_007129.5(ZIC2):c.1037G>T (p.Arg346Leu)	ZIC2 (R346L)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
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 2833768	NM_007129.5(ZIC2):c.1239+7C>T	ZIC2	Single nucleotide variant (intron variant)	Holoprosencephaly 5	GLikely benign
Select item 2831148	NM_007129.5(ZIC2):c.1415_1423dup (p.Val474_His475insProAlaVal)	ZIC2	Duplication (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 2824959	NM_007129.5(ZIC2):c.1380G>A (p.Ala460=)	LOC110008580, 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 2818308	NM_007129.5(ZIC2):c.816C>T (p.Ser272=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2818305	NM_007129.5(ZIC2):c.813G>A (p.Lys271=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2818303	NM_007129.5(ZIC2):c.810G>A (p.Lys270=)	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 2818298	NM_007129.5(ZIC2):c.795A>G (p.Gln265=)	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	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 2808240	NM_007129.5(ZIC2):c.1310C>T (p.Pro437Leu)	ZIC2 (P437L)	Single nucleotide variant (missense variant)	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 2805454	NM_007129.5(ZIC2):c.525C>T (p.Leu175=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5 +1 more	GLikely benign
Select item 2804445	NM_007129.5(ZIC2):c.1239+9G>A	ZIC2	Single nucleotide variant (intron variant)	Holoprosencephaly 5	GLikely benign
Select item 2788117	NM_007129.5(ZIC2):c.1365_1379del (p.Ala466_Ala470del)	LOC110008580, ZIC2	Deletion (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 2776033	NM_007129.5(ZIC2):c.1437C>G (p.Gly479=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2768833	NM_007129.5(ZIC2):c.1392_1397dup (p.Ala470_Val471insAlaAla)	LOC110008580, ZIC2	Duplication (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 2766527	NM_007129.5(ZIC2):c.824A>G (p.Lys275Arg)	ZIC2 (K275R)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2760100	NM_007129.5(ZIC2):c.773G>A (p.Cys258Tyr)	ZIC2 (C258Y)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GPathogenic
Select item 2756430	NM_007129.5(ZIC2):c.447_611dup (p.Pro204_Tyr205insHisSerAspAlaGlnGlyHisLeuLeuPheProGlyLeuProGluGlnHisGlyProHisGlySerGlnAsnValLeuAsnGlyGlnMetArgLeuGlyLeuProGlyGluValPheGlyArgSerGluGlnTyrArgGlnValAlaSerProArgThrAspPro)	ZIC2	Duplication (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 2756215	NM_007129.5(ZIC2):c.1151T>C (p.Met384Thr)	ZIC2 (M384T)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2745484	NM_007129.5(ZIC2):c.1103A>T (p.Glu368Val)	ZIC2 (E368V)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2744216	NM_007129.5(ZIC2):c.78GGC[6] (p.Ala33_Glu34insAla)	ZIC2	Microsatellite (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 2741489	NM_007129.5(ZIC2):c.615C>T (p.Tyr205=)	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 2731888	NM_007129.5(ZIC2):c.1281C>T (p.Ala427=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2729832	NM_007129.5(ZIC2):c.1389_1406del (p.Ala465_Ala470del)	LOC110008580, ZIC2	Deletion (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 2728953	NM_007129.5(ZIC2):c.1256C>T (p.Pro419Leu)	ZIC2 (P419L)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2728724	NM_007129.5(ZIC2):c.1383G>A (p.Ala461=)	LOC110008580, ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5 +1 more	GLikely benign
Select item 2728448	NM_007129.5(ZIC2):c.1449C>T (p.Gly483=)	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 2727139	NM_007129.5(ZIC2):c.1255C>A (p.Pro419Thr)	ZIC2 (P419T)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2727018	NM_007129.5(ZIC2):c.1395GGC[5] (p.Ala470_Val471insAla)	LOC110008580, ZIC2	Microsatellite (inframe_insertion)	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 2721416	NM_007129.5(ZIC2):c.1281C>G (p.Ala427=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GBenign
Select item 2716885	NM_007129.5(ZIC2):c.1316G>A (p.Gly439Glu)	ZIC2 (G439E)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2715294	NM_007129.5(ZIC2):c.1521C>T (p.Gly507=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
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 2712888	NM_007129.5(ZIC2):c.330G>A (p.Gly110=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2710828	NM_007129.5(ZIC2):c.937C>T (p.Pro313Ser)	ZIC2 (P313S)	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 2702811	NM_007129.5(ZIC2):c.1122C>T (p.Phe374=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2701787	NM_007129.5(ZIC2):c.841C>T (p.His281Tyr)	ZIC2 (H281Y)	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 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 2501190	NM_007129.5(ZIC2):c.1004del (p.Cys335fs)	ZIC2 (C335fs)	Deletion (frameshift variant)	Holoprosencephaly 5	GLikely pathogenic
Select item 2438653	NM_007129.5(ZIC2):c.143G>C (p.Gly48Ala)	ZIC2 (G48A)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2438652	NM_007129.5(ZIC2):c.797T>C (p.Leu266Pro)	ZIC2 (L266P)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2425688	NC_000013.10:g.(?_99336978)_(102379160_?)del	ITGBL1, NALCN +13 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 2422806	NC_000013.10:g.(?_100038233)_(103718599_?)dup	POGLUT2, SLC10A2 +18 more	Duplication	not provided	GUncertain significance
Select item 2421002	NM_007129.5(ZIC2):c.1239+11G>C	ZIC2	Single nucleotide variant (intron variant)	Holoprosencephaly 5	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 2244731	NM_007129.5(ZIC2):c.77C>G (p.Ala26Gly)	ZIC2 (A26G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2200794	NM_007129.5(ZIC2):c.1012C>T (p.Pro338Ser)	ZIC2 (P338S)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2200139	NM_007129.5(ZIC2):c.1538G>A (p.Gly513Asp)	ZIC2 (G513D)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
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 2194775	NM_007129.5(ZIC2):c.1104G>A (p.Glu368=)	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 2193573	NM_007129.5(ZIC2):c.300C>T (p.Pro100=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign

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