ClinVar Miner

List of variants in gene ZEB2 reported as pathogenic for Mowat-Wilson syndrome

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Gene type:
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Total variants: 89
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HGVS dbSNP
NC_000002.11:g.(?_145274845)_(145274986_?)del
NM_014795.3(ZEB2):c.(?_-522)_(*5076_?)del
NM_014795.3(ZEB2):c.3068-?_(*5076_?)del
NM_014795.3(ZEB2):c.404-?_(*5076_?)del
NM_014795.3(ZEB2):c.73+1delG rs786204813
NM_014795.4(ZEB2):c.-69-1G>A rs587776612
NM_014795.4(ZEB2):c.1017del (p.Ser339_Val340insTer)
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_014795.4(ZEB2):c.1106T>A (p.Leu369Ter) rs797046117
NM_014795.4(ZEB2):c.1172_1182delinsTGACTTAAAATTAATG (p.Lys391_Pro394delinsMetThrTer) rs786204805
NM_014795.4(ZEB2):c.1173_1176del (p.Thr392fs) rs587776603
NM_014795.4(ZEB2):c.1218del (p.His407fs) rs727504226
NM_014795.4(ZEB2):c.1257del (p.Gly421fs) rs786204801
NM_014795.4(ZEB2):c.1277T>G (p.Leu426Ter) rs786204807
NM_014795.4(ZEB2):c.1416_1420del (p.Arg473fs) rs786204814
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1489C>T (p.Gln497Ter) rs1553961702
NM_014795.4(ZEB2):c.1541_1542insA (p.Val515fs) rs1553961695
NM_014795.4(ZEB2):c.1570dup (p.Ser524fs) rs1560606974
NM_014795.4(ZEB2):c.1645A>T (p.Arg549Ter) rs137852980
NM_014795.4(ZEB2):c.1653del (p.Ser552fs) rs786204820
NM_014795.4(ZEB2):c.1687del (p.Leu562_Ile563insTer) rs786204819
NM_014795.4(ZEB2):c.1749C>A (p.Cys583Ter) rs786204808
NM_014795.4(ZEB2):c.1754del (p.Phe585fs) rs786204809
NM_014795.4(ZEB2):c.178_190delinsGTT (p.Thr60fs) rs730881215
NM_014795.4(ZEB2):c.1862del (p.Val621fs) rs587776611
NM_014795.4(ZEB2):c.1876G>T (p.Gly626Ter) rs727504224
NM_014795.4(ZEB2):c.1884del (p.Phe628fs) rs786204811
NM_014795.4(ZEB2):c.1892del (p.Asn631fs) rs587776607
NM_014795.4(ZEB2):c.1944del (p.Ile649fs) rs786204803
NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter)
NM_014795.4(ZEB2):c.1966_1967del (p.Met656fs) rs786204818
NM_014795.4(ZEB2):c.2038_2152dup (p.Asn718delinsSerCysGlyProSerSerGlyIleCysGluGlyMetValTer) rs1553961598
NM_014795.4(ZEB2):c.2061del (p.Phe687fs) rs797046118
NM_014795.4(ZEB2):c.2072G>A (p.Trp691Ter) rs1553961610
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.20_21insT (p.Asp8fs) rs786204802
NM_014795.4(ZEB2):c.2177_2180del (p.Ser726fs) rs786204821
NM_014795.4(ZEB2):c.2179_2180del (p.Leu727fs) rs786204810
NM_014795.4(ZEB2):c.2211_2214dup (p.Ile739fs) rs1553961585
NM_014795.4(ZEB2):c.2227del (p.Ser743fs) rs1553961580
NM_014795.4(ZEB2):c.2228_2229del (p.Ser743fs) rs730881211
NM_014795.4(ZEB2):c.227_233del (p.Gln76fs) rs786204812
NM_014795.4(ZEB2):c.2337del (p.Ser780fs) rs1560606294
NM_014795.4(ZEB2):c.234_235del (p.Leu79fs) rs1553964147
NM_014795.4(ZEB2):c.236_239del (p.Leu78_Leu79insTer) rs1560620837
NM_014795.4(ZEB2):c.2404_2407del (p.Thr802fs) rs797046119
NM_014795.4(ZEB2):c.2453dup (p.Leu818fs) rs587776606
NM_014795.4(ZEB2):c.2501del (p.Lys834fs) rs587784565
NM_014795.4(ZEB2):c.2555C>G (p.Ser852Ter) rs137852982
NM_014795.4(ZEB2):c.2672_2678del (p.Ala891fs) rs878855329
NM_014795.4(ZEB2):c.2685_2686CA[3] (p.Ala897fs) rs786204804
NM_014795.4(ZEB2):c.2688dup (p.Ala897fs) rs1553961510
NM_014795.4(ZEB2):c.2757del (p.Leu920fs) rs1560605892
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.2806del (p.Ala936fs) rs1553961487
NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter) rs797046120
NM_014795.4(ZEB2):c.289del (p.Trp97fs) rs727503784
NM_014795.4(ZEB2):c.3002del (p.Cys1001fs) rs730881212
NM_014795.4(ZEB2):c.3025C>T (p.Gln1009Ter) rs1560604977
NM_014795.4(ZEB2):c.3073del (p.Arg1025fs) rs730881217
NM_014795.4(ZEB2):c.3095del (p.Cys1032fs) rs1060500653
NM_014795.4(ZEB2):c.3109A>T (p.Lys1037Ter) rs1553960793
NM_014795.4(ZEB2):c.3134A>G (p.His1045Arg) rs397515449
NM_014795.4(ZEB2):c.3137C>A (p.Ser1046Ter) rs797046121
NM_014795.4(ZEB2):c.3170G>A (p.Cys1057Tyr) rs1135401790
NM_014795.4(ZEB2):c.3195dup (p.His1066fs) rs730881213
NM_014795.4(ZEB2):c.3211T>C (p.Ser1071Pro) rs397515448
NM_014795.4(ZEB2):c.3356A>G (p.Gln1119Arg) rs137852983
NM_014795.4(ZEB2):c.3359_3364delinsTAATG (p.Gly1120fs) rs398124280
NM_014795.4(ZEB2):c.3391_3400del (p.Pro1131fs) rs786204816
NM_014795.4(ZEB2):c.3499del (p.Ser1167fs) rs730881218
NM_014795.4(ZEB2):c.351T>A (p.Tyr117Ter) rs1560618505
NM_014795.4(ZEB2):c.3566_3567dup (p.Met1190fs) rs587776609
NM_014795.4(ZEB2):c.432dup (p.Glu145Ter) rs1560609810
NM_014795.4(ZEB2):c.460del (p.Glu154fs) rs786204817
NM_014795.4(ZEB2):c.481del (p.Val161fs) rs1553962198
NM_014795.4(ZEB2):c.660C>G (p.Tyr220Ter) rs111724246
NM_014795.4(ZEB2):c.674C>A (p.Ser225Ter) rs797046122
NM_014795.4(ZEB2):c.703G>T (p.Glu235Ter)
NM_014795.4(ZEB2):c.703del (p.Glu235fs) rs786204806
NM_014795.4(ZEB2):c.71dup (p.Asn24fs) rs1553971826
NM_014795.4(ZEB2):c.760_761dup (p.Gln255fs) rs587776605
NM_014795.4(ZEB2):c.808-2A>G rs1560607925
NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter) rs587784570
NM_014795.4(ZEB2):c.855_856AG[1] (p.Glu286fs)
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) rs587784571
NM_014795.4(ZEB2):c.999del (p.Lys333fs) rs730881208
Single allele

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