"GeneDx"[submitter] AND "ZEB2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60212	GRCh38/hg38 2q22.2-22.3(chr2:141666537-147845662)x1	ACVR2A, ARHGAP15 +57 more	Copy number loss	See cases	GPathogenic
Select item 60214	GRCh38/hg38 2q22.3(chr2:143988786-144558029)x1	GTDC1, LINC01412 +13 more	Copy number loss	See cases	GPathogenic
Select item 387314	NM_014795.4(ZEB2):c.*6T>G	ZEB2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 331298	NM_014795.4(ZEB2):c.3640A>G (p.Met1214Val)	ZEB2 (M1214V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 387102	NM_014795.4(ZEB2):c.3582G>A (p.Ser1194=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3368127	NM_014795.4(ZEB2):c.3563A>C (p.His1188Pro)	ZEB2 (H1164P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 181719	NM_014795.4(ZEB2):c.3563A>G (p.His1188Arg)	ZEB2 (H1188R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 391143	NM_014795.4(ZEB2):c.3557G>T (p.Gly1186Val)	ZEB2 (G1186V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 507915	NM_014795.4(ZEB2):c.3513T>C (p.Ser1171=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 181763	NM_014795.4(ZEB2):c.3499del (p.Ser1167fs)	ZEB2 (S1143fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 95636	NM_014795.4(ZEB2):c.3471C>T (p.Asp1157=)	ZEB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 1036642	NM_014795.4(ZEB2):c.3454G>C (p.Gly1152Arg)	ZEB2 (G1128R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 507959	NM_014795.4(ZEB2):c.3452T>C (p.Leu1151Pro)	ZEB2 (L1151P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 379072	NM_014795.4(ZEB2):c.3432C>T (p.Gly1144=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1482893	NM_014795.4(ZEB2):c.3430G>T (p.Gly1144Cys)	ZEB2 (G1144C +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GUncertain significance
Select item 181748	NM_014795.4(ZEB2):c.3409G>A (p.Glu1137Lys)	ZEB2 (E1137K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2412983	NM_014795.4(ZEB2):c.3365C>G (p.Ser1122Cys)	ZEB2 (S1098C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306860	NM_014795.4(ZEB2):c.3353C>T (p.Pro1118Leu)	ZEB2 (P1094L +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 378871	NM_014795.4(ZEB2):c.3353C>A (p.Pro1118His)	ZEB2 (P1118H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1310643	NM_014795.4(ZEB2):c.3352C>T (p.Pro1118Ser)	ZEB2 (P1094S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707821	NM_014795.4(ZEB2):c.3341A>G (p.Gln1114Arg)	ZEB2 (Q1090R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 181747	NM_014795.4(ZEB2):c.3337T>A (p.Leu1113Met)	ZEB2 (L1113M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 668149	NM_014795.4(ZEB2):c.3286C>A (p.Arg1096Ser)	ZEB2 (R1096S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 181746	NM_014795.4(ZEB2):c.3277C>G (p.Arg1093Gly)	ZEB2 (R1093G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2013448	NM_014795.4(ZEB2):c.3256G>C (p.Glu1086Gln)	ZEB2 (E1062Q +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GUncertain significance
Select item 620299	NM_014795.4(ZEB2):c.3243C>A (p.Cys1081Ter)	ZEB2 (C1081* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 193714	NM_014795.4(ZEB2):c.3219C>T (p.His1073=)	ZEB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 504383	NM_014795.4(ZEB2):c.3213dup (p.Gln1072fs)	ZEB2 (Q1072fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2497906	NM_014795.4(ZEB2):c.3206C>T (p.Ser1069Leu)	ZEB2 (S1045L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328829	NM_014795.4(ZEB2):c.3206C>G (p.Ser1069Trp)	ZEB2 (S1045W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489157	NM_014795.4(ZEB2):c.3206C>A (p.Ser1069Ter)	ZEB2 (S1069* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 181718	NM_014795.4(ZEB2):c.3201G>A (p.Ser1067=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3378196	NM_014795.4(ZEB2):c.3200C>T (p.Ser1067Leu)	ZEB2 (S1043L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 181756	NM_014795.4(ZEB2):c.3195dup (p.His1066fs)	ZEB2 (H1042fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2413057	NM_014795.4(ZEB2):c.3188G>A (p.Arg1063His)	ZEB2 (R1039H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300847	NM_014795.4(ZEB2):c.3180T>G (p.Cys1060Trp)	ZEB2 (C1036W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1331326	NM_014795.4(ZEB2):c.3178T>C (p.Cys1060Arg)	ZEB2 (C1036R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3368766	NM_014795.4(ZEB2):c.3157A>G (p.Lys1053Glu)	ZEB2 (K1029E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385673	NM_014795.4(ZEB2):c.3153C>T (p.Gly1051=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome +1 more	GLikely benign
Select item 1312771	NM_014795.4(ZEB2):c.3149C>T (p.Ser1050Leu)	ZEB2 (S1026L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371217	NM_014795.4(ZEB2):c.3140G>A (p.Arg1047Lys)	ZEB2 (R1023K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 181745	NM_014795.4(ZEB2):c.3130G>A (p.Glu1044Lys)	ZEB2 (E1044K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188037	NM_014795.4(ZEB2):c.3120C>T (p.His1040=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 181762	NM_014795.4(ZEB2):c.3073del (p.Arg1025fs)	ZEB2 (R1001fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1305874	NM_014795.4(ZEB2):c.3068-3C>G	ZEB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1301232	NM_014795.4(ZEB2):c.3068-13T>C	ZEB2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 672370	NM_014795.4(ZEB2):c.3068-163G>A	ZEB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192837	NM_014795.4(ZEB2):c.3067+49A>C	ZEB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204146	NM_014795.4(ZEB2):c.3067+37G>A	ZEB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 95633	NM_014795.4(ZEB2):c.3067+6A>T	ZEB2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 429990	NM_014795.4(ZEB2):c.3067+1G>A	ZEB2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2442606	NM_014795.4(ZEB2):c.3058G>T (p.Glu1020Ter)	ZEB2 (E1020* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 512784	NM_014795.4(ZEB2):c.3057C>T (p.Tyr1019=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome +1 more	GLikely benign
Select item 1698349	NM_014795.4(ZEB2):c.3047G>A (p.Arg1016Gln)	ZEB2 (R1016Q +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 280856	NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter)	ZEB2 (R1016* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1699659	NM_014795.4(ZEB2):c.3036T>G (p.Ser1012Arg)	ZEB2 (S1012R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369947	NM_014795.4(ZEB2):c.3009A>T (p.Leu1003Phe)	ZEB2 (L1003F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 181755	NM_014795.4(ZEB2):c.3002del (p.Cys1001fs)	ZEB2 (C1001fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 137954	NM_014795.4(ZEB2):c.2973C>T (p.Ile991=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1309388	NM_014795.4(ZEB2):c.2950T>C (p.Ser984Pro)	ZEB2 (S960P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962325	NM_014795.4(ZEB2):c.2947G>A (p.Asp983Asn)	ZEB2 (D959N +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GUncertain significance
Select item 3369776	NM_014795.4(ZEB2):c.2912A>G (p.Asp971Gly)	ZEB2 (D947G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373064	NM_014795.4(ZEB2):c.2908C>T (p.Gln970Ter)	ZEB2 (Q970* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 384145	NM_014795.4(ZEB2):c.2907A>G (p.Ala969=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1486847	NM_014795.4(ZEB2):c.2899G>A (p.Asp967Asn)	ZEB2 (D943N +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GUncertain significance
Select item 95632	NM_014795.4(ZEB2):c.2887-4G>A	ZEB2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign
Select item 514109	NM_014795.4(ZEB2):c.2887-7A>C	ZEB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670342	NM_014795.4(ZEB2):c.2886+137A>G	ZEB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291199	NM_014795.4(ZEB2):c.2886+70dup	ZEB2	Duplication (intron variant)	not provided	GBenign
Select item 137953	NM_014795.4(ZEB2):c.2886+14T>C	ZEB2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 391409	NM_014795.4(ZEB2):c.2886+12A>C	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome +1 more	GLikely benign
Select item 281633	NM_014795.4(ZEB2):c.2886+4A>C	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 181744	NM_014795.4(ZEB2):c.2870G>A (p.Arg957Gln)	ZEB2 (R957Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 506473	NM_014795.4(ZEB2):c.2855G>C (p.Arg952Thr)	ZEB2 (R952T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 961764	NM_014795.4(ZEB2):c.2847G>A (p.Met949Ile)	ZEB2 (M925I +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GUncertain significance
Select item 697223	NM_014795.4(ZEB2):c.2808C>T (p.Ala936=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 696738	NM_014795.4(ZEB2):c.2804T>C (p.Met935Thr)	ZEB2 (M911T +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GBenign/Likely benign
Select item 1309081	NM_014795.4(ZEB2):c.2792T>G (p.Phe931Cys)	ZEB2 (F907C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137952	NM_014795.4(ZEB2):c.2766A>T (p.Pro922=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome +3 more	GConflicting classifications of pathogenicity
Select item 466282	NM_014795.4(ZEB2):c.2762G>A (p.Arg921Gln)	ZEB2 (R921Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 160323	NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter)	ZEB2 (R921* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 379714	NM_014795.4(ZEB2):c.2746A>G (p.Ser916Gly)	ZEB2 (S916G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1145661	NM_014795.4(ZEB2):c.2742G>A (p.Gln914=)	ZEB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1802015	NM_014795.4(ZEB2):c.2740C>A (p.Gln914Lys)	ZEB2 (Q890K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681072	NM_014795.4(ZEB2):c.2733A>G (p.Pro911=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome +1 more	GLikely benign
Select item 181743	NM_014795.4(ZEB2):c.2729T>C (p.Met910Thr)	ZEB2 (M910T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703405	NM_014795.4(ZEB2):c.2718del (p.Ala907fs)	ZEB2 (A883fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome +1 more	GPathogenic
Select item 181742	NM_014795.4(ZEB2):c.2707G>T (p.Ala903Ser)	ZEB2 (A903S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2443685	NM_014795.4(ZEB2):c.2677C>A (p.Pro893Thr)	ZEB2 (P869T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 644069	NM_014795.4(ZEB2):c.2647G>A (p.Val883Met)	ZEB2 (V883M +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GLikely benign
Select item 385085	NM_014795.4(ZEB2):c.2646A>G (p.Pro882=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 681961	NM_014795.4(ZEB2):c.2627A>G (p.Asp876Gly)	ZEB2 (D876G +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 181741	NM_014795.4(ZEB2):c.2624T>G (p.Leu875Arg)	ZEB2 (L875R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 392737	NM_014795.4(ZEB2):c.2622T>A (p.Asn874Lys)	ZEB2 (N874K +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GLikely benign
Select item 137951	NM_014795.4(ZEB2):c.2601G>A (p.Lys867=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 817570	NM_014795.4(ZEB2):c.2578_2579dup (p.Leu860_Asn861insTer)	ZEB2	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 698870	NM_014795.4(ZEB2):c.2541C>T (p.Asn847=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 696826	NM_014795.4(ZEB2):c.2538T>A (p.His846Gln)	ZEB2 (H822Q +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GBenign
Select item 160322	NM_014795.4(ZEB2):c.2501del (p.Lys834fs)	ZEB2 (K810fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 181717	NM_014795.4(ZEB2):c.2495C>A (p.Ala832Asp)	ZEB2 (A832D +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity

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