ZEB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148432	GRCh38/hg38 2q22.1-22.3(chr2:136937358-146681810)x1	LOC129934870, LOC129934871 +75 more	Copy number loss	See cases	GPathogenic
Select item 57333	GRCh38/hg38 2q22.1-22.3(chr2:140186521-146528244)x1	ARHGAP15, ARHGAP15-AS1 +50 more	Copy number loss	See cases	GPathogenic
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 150244	GRCh38/hg38 2q22.2-22.3(chr2:143294079-147713830)x1	ARHGAP15, ARHGAP15-AS1 +43 more	Copy number loss	See cases	GPathogenic
Select item 60213	GRCh38/hg38 2q22.3(chr2:143873711-144513307)x1	GTDC1, LOC101928386 +12 more	Copy number loss	See cases	GPathogenic
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 34454	GRCh38/hg38 2q22.3(chr2:143900149-144668138)x3	GTDC1, LINC01412 +17 more	Copy number gain	See cases	GUncertain significance
Select item 60214	GRCh38/hg38 2q22.3(chr2:143988786-144558029)x1	GTDC1, LINC01412 +13 more	Copy number loss	See cases	GPathogenic
Select item 4765	NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del	GTDC1, LINC01412 +15 more	Deletion	Mowat-Wilson syndrome	GPathogenic
Select item 60215	GRCh38/hg38 2q22.3(chr2:144164576-144505879)x1	GTDC1, LOC110120671 +10 more	Copy number loss	See cases	GPathogenic
Select item 149932	GRCh38/hg38 2q22.3(chr2:144213114-144668146)x1	GTDC1, LINC01412 +15 more	Copy number loss	See cases	GPathogenic
Select item 331229	NM_014795.4(ZEB2):c.4844_4845dup	ZEB2	Duplication (3 prime UTR variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 331228	NM_014795.4(ZEB2):c.*4845dup	ZEB2	Duplication (3 prime UTR variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 331230	NM_014795.4(ZEB2):c.*4845del	ZEB2	Deletion (3 prime UTR variant)	Mowat-Wilson syndrome	GBenign
Select item 331256	NM_014795.4(ZEB2):c.*2525dup	ZEB2	Duplication (3 prime UTR variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1694965	NM_014795.4(ZEB2):c.*2518G>T	ZEB2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 331258	NM_014795.4(ZEB2):c.*2516del	ZEB2	Deletion (3 prime UTR variant)	Mowat-Wilson syndrome	GLikely benign
Select item 331261	NM_014795.4(ZEB2):c.*2388TA[12]	ZEB2	Microsatellite (3 prime UTR variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 331260	NM_014795.4(ZEB2):c.*2388TA[11]	ZEB2	Microsatellite (3 prime UTR variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 331259	NM_014795.4(ZEB2):c.*2388TA[10]	ZEB2	Microsatellite (3 prime UTR variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 331262	NM_014795.4(ZEB2):c.*2388TA[8]	ZEB2	Microsatellite (3 prime UTR variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 331263	NM_014795.4(ZEB2):c.2396_2397insGT	ZEB2	Insertion (3 prime UTR variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 331265	NM_014795.4(ZEB2):c.*2377GT[7]	ZEB2	Microsatellite (3 prime UTR variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2651393	NM_014795.4(ZEB2):c.*2387G>A	ZEB2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1694966	NM_014795.4(ZEB2):c.*1992T>C	ZEB2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 331271	NM_014795.4(ZEB2):c.*1984del	ZEB2	Deletion (3 prime UTR variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 331274	NM_014795.4(ZEB2):c.*1945del	ZEB2	Deletion (3 prime UTR variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 331278	NM_014795.4(ZEB2):c.*1796dup	ZEB2	Duplication (3 prime UTR variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 331286	NM_014795.4(ZEB2):c.*1110AAGAG[1]	ZEB2	Microsatellite (3 prime UTR variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 187817	NC_000002.12:g.(?_144388714)_(144520303_?)del	LOC110120671, LOC111721705 +3 more	Deletion	not provided	GPathogenic
Select item 331289	NM_014795.4(ZEB2):c.*560dup	ZEB2	Duplication (3 prime UTR variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 331290	NM_014795.4(ZEB2):c.*560del	ZEB2	Deletion (3 prime UTR variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 331291	NM_014795.4(ZEB2):c.*514dup	ZEB2	Duplication (3 prime UTR variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 331292	NM_014795.4(ZEB2):c.*514del	ZEB2	Deletion (3 prime UTR variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 331297	NM_014795.4(ZEB2):c.*35dup	ZEB2	Duplication (3 prime UTR variant)	Mowat-Wilson syndrome	GLikely benign
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 2126011	NM_014795.4(ZEB2):c.3638G>T (p.Gly1213Val)	ZEB2 (G1213V +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 1717718	NM_014795.4(ZEB2):c.3625A>G (p.Asn1209Asp)	ZEB2 (N1185D +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 1970953	NM_014795.4(ZEB2):c.3614A>G (p.His1205Arg)	ZEB2 (H1181R +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GLikely benign
Select item 958873	NM_014795.4(ZEB2):c.3610G>A (p.Asp1204Asn)	ZEB2 (D1180N +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GLikely benign
Select item 1424498	NM_014795.4(ZEB2):c.3608C>T (p.Ser1203Leu)	ZEB2 (S1179L +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 574019	NM_014795.4(ZEB2):c.3599A>G (p.Glu1200Gly)	ZEB2 (E1200G +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2067599	NM_014795.4(ZEB2):c.3595A>T (p.Met1199Leu)	ZEB2 (M1175L +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2007705	NM_014795.4(ZEB2):c.3591G>A (p.Gly1197=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2867017	NM_014795.4(ZEB2):c.3584A>C (p.Glu1195Ala)	ZEB2 (E1171A +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 387102	NM_014795.4(ZEB2):c.3582G>A (p.Ser1194=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2956731	NM_014795.4(ZEB2):c.3578G>C (p.Ser1193Thr)	ZEB2 (S1193T +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 534636	NM_014795.4(ZEB2):c.3575A>C (p.Asp1192Ala)	ZEB2 (D1192A +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2024305	NM_014795.4(ZEB2):c.3574G>T (p.Asp1192Tyr)	ZEB2 (D1168Y +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GBenign
Select item 1342505	NM_014795.4(ZEB2):c.3574G>C (p.Asp1192His)	ZEB2 (D1168H +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2177199	NM_014795.4(ZEB2):c.3570G>C (p.Met1190Ile)	ZEB2 (M1190I +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 4763	NM_014795.4(ZEB2):c.3566_3567dup (p.Met1190fs)	ZEB2 (M1166fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2972654	NM_014795.4(ZEB2):c.3564C>T (p.His1188=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
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 1082252	NM_014795.4(ZEB2):c.3557G>C (p.Gly1186Ala)	ZEB2 (G1162A +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	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 691403	NM_014795.4(ZEB2):c.3552G>A (p.Glu1184=)	ZEB2	Single nucleotide variant (synonymous variant)	Aganglionic megacolon	GUncertain significance
Select item 187813	NM_014795.4(ZEB2):c.3544del (p.Glu1182fs)	ZEB2 (E1182fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1805993	NM_014795.4(ZEB2):c.3539G>A (p.Arg1180Gln)	ZEB2 (R1156Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1543553	NM_014795.4(ZEB2):c.3538C>A (p.Arg1180=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 572414	NM_014795.4(ZEB2):c.3538C>G (p.Arg1180Gly)	ZEB2 (R1180G +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 1346793	NM_014795.4(ZEB2):c.3536T>A (p.Ile1179Lys)	ZEB2 (I1155K +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 574191	NM_014795.4(ZEB2):c.3536T>C (p.Ile1179Thr)	ZEB2 (I1179T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1663498	NM_014795.4(ZEB2):c.3535A>G (p.Ile1179Val)	ZEB2 (I1155V +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GConflicting classifications of pathogenicity
Select item 167852	NM_014795.4(ZEB2):c.3533del (p.Thr1178fs)	ZEB2 (T1154fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 935467	NM_014795.4(ZEB2):c.3527C>A (p.Pro1176His)	ZEB2 (P1152H +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 1589004	NM_014795.4(ZEB2):c.3522G>A (p.Thr1174=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	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 946194	NM_014795.4(ZEB2):c.3512G>A (p.Ser1171Asn)	ZEB2 (S1147N +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 1481867	NM_014795.4(ZEB2):c.3503A>C (p.Glu1168Ala)	ZEB2 (E1144A +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 181763	NM_014795.4(ZEB2):c.3499del (p.Ser1167fs)	ZEB2 (S1143fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 703403	NM_014795.4(ZEB2):c.3495A>G (p.Glu1165=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 1521640	NM_014795.4(ZEB2):c.3492G>C (p.Glu1164Asp)	ZEB2 (E1140D +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 701712	NM_014795.4(ZEB2):c.3489A>G (p.Glu1163=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2878995	NM_014795.4(ZEB2):c.3478_3480inv (p.Phe1160Glu)	ZEB2 (F1136E +1 more)	Inversion (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 1176742	NM_014795.4(ZEB2):c.3480C>T (p.Phe1160=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 95636	NM_014795.4(ZEB2):c.3471C>T (p.Asp1157=)	ZEB2	Single nucleotide variant (synonymous variant)	ZEB2-related condition +3 more	GBenign
Select item 805754	NM_014795.4(ZEB2):c.3469G>A (p.Asp1157Asn)	ZEB2 (D1133N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029312	NM_014795.4(ZEB2):c.3467G>C (p.Gly1156Ala)	ZEB2 (G1156A +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 1149290	NM_014795.4(ZEB2):c.3466G>T (p.Gly1156Cys)	ZEB2 (G1132C +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GLikely benign
Select item 1399194	NM_014795.4(ZEB2):c.3463G>A (p.Asp1155Asn)	ZEB2 (D1131N +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 794862	NM_014795.4(ZEB2):c.3459A>G (p.Arg1153=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
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 2795241	NM_014795.4(ZEB2):c.3453G>A (p.Leu1151=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
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 2090996	NM_014795.4(ZEB2):c.3451C>T (p.Leu1151=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2010976	NM_014795.4(ZEB2):c.3451C>G (p.Leu1151Val)	ZEB2 (L1127V +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 466288	NM_014795.4(ZEB2):c.3451C>A (p.Leu1151Met)	ZEB2 (L1151M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2809601	NM_014795.4(ZEB2):c.3445G>A (p.Gly1149Arg)	ZEB2 (G1125R +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 160325	NM_014795.4(ZEB2):c.3444C>T (p.Tyr1148=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2824357	NM_014795.4(ZEB2):c.3437_3439dup (p.Asp1146_Gly1147insAsp)	ZEB2	Duplication (inframe_insertion)	Mowat-Wilson syndrome	GLikely benign
Select item 1994894	NM_014795.4(ZEB2):c.3435G>C (p.Glu1145Asp)	ZEB2 (E1121D +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 379072	NM_014795.4(ZEB2):c.3432C>T (p.Gly1144=)	ZEB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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	GUncertain significance
Select item 946596	NM_014795.4(ZEB2):c.3430G>A (p.Gly1144Ser)	ZEB2 (G1120S +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 1157765	NM_014795.4(ZEB2):c.3420C>T (p.His1140=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2704696	NM_014795.4(ZEB2):c.3410A>G (p.Glu1137Gly)	ZEB2 (E1113G +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	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 405333	NM_014795.4(ZEB2):c.3408C>G (p.Ser1136Arg)	ZEB2 (S1136R +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance

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