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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:137694928-147439378
GRCh38:
Chr2:136937358-146681810
See casesPathogenic
(May 12, 2011)
no assertion criteria providedVCV000148432
2.
GRCh37:
Chr2:140944090-147285812
GRCh38:
Chr2:140186521-146528244
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057333
3.
GRCh37:
Chr2:142424106-148603231
GRCh38:
Chr2:141666537-147845662
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060212
4.
GRCh37:
Chr2:144051648-148471399
GRCh38:
Chr2:143294079-147713830
See casesPathogenic
(May 3, 2012)
no assertion criteria providedVCV000150244
5.
GRCh37:
Chr2:144631279-145270874
GRCh38:
Chr2:143873711-144513307
ZEB2, GTDC1, LOC101928386, LOC110120671, LOC111721705, LOC112806051See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060213
6.
GRCh37:
Chr2:144657717-159178136
GRCh38:
Chr2:143900149-158321624
See casesPathogenic
(Jul 30, 2009)
no assertion criteria providedVCV000146076
7.
GRCh37:
Chr2:144657717-145425705
GRCh38:
Chr2:143900149-144668138
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria providedVCV000034454
8.
GRCh37:
Chr2:144746353-145315596
GRCh38:
Chr2:143988786-144558029
ZEB2, GTDC1, ZEB2-AS1, LINC01412, LOC105373656, LOC110120671, LOC111721705, LOC112806051See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060214
9.
GRCh38:
Chr2:144114719-144681958
LOC110121209, ZEB2, GTDC1, TEX41, ZEB2-AS1, LINC01412, LOC105373656, LOC110120671, LOC111721705, LOC112806051Mowat-Wilson syndromePathogenic
(Aug 1, 2003)
no assertion criteria providedVCV000004765
10.
GRCh37:
Chr2:144922143-145263446
GRCh38:
Chr2:144164576-144505879
ZEB2, GTDC1, LOC110120671, LOC111721705, LOC112806051See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060215
11.
GRCh37:
Chr2:144970681-145425713
GRCh38:
Chr2:144213114-144668146
ZEB2, GTDC1, TEX41, ZEB2-AS1, LINC01412, LOC105373656, LOC110120671, LOC110121209, LOC111721705, LOC112806051See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000149932
12.
GRCh37:
Chr2:145142172-145142173
GRCh38:
Chr2:144384605-144384606
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331229
13.
GRCh37:
Chr2:145142172-145142173
GRCh38:
Chr2:144384605-144384606
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331228
14.
GRCh37:
Chr2:145142173
GRCh38:
Chr2:144384606
ZEB2Mowat-Wilson syndromeBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000331230
15.
GRCh37:
Chr2:145144492-145144493
GRCh38:
Chr2:144386925-144386926
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331256
16.
GRCh37:
Chr2:145144502
GRCh38:
Chr2:144386935
ZEB2Mowat-Wilson syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000331258
17.
GRCh37:
Chr2:145144612-145144613
GRCh38:
Chr2:144387045-144387046
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331261
18.
GRCh37:
Chr2:145144612-145144613
GRCh38:
Chr2:144387045-144387046
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331260
19.
GRCh37:
Chr2:145144612-145144613
GRCh38:
Chr2:144387045-144387046
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331259
20.
GRCh37:
Chr2:145144613-145144614
GRCh38:
Chr2:144387046-144387047
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331262
21.
GRCh37:
Chr2:145144621-145144622
GRCh38:
Chr2:144387054-144387055
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331263
22.
GRCh37:
Chr2:145144629-145144630
GRCh38:
Chr2:144387062-144387063
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331265
23.
GRCh37:
Chr2:145145034
GRCh38:
Chr2:144387467
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331271
24.
GRCh37:
Chr2:145145073
GRCh38:
Chr2:144387506
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331274
25.
GRCh37:
Chr2:145145221-145145222
GRCh38:
Chr2:144387654-144387655
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331278
26.
GRCh37:
Chr2:145145899-145145903
GRCh38:
Chr2:144388332-144388336
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331286
27.
GRCh37:
Chr2:145146281-145277870
GRCh38:
Chr2:144388714-144520303
ZEB2, ZEB2-AS1, LOC110120671, LOC111721705, LOC112806051not providedPathogenic
(Jan 30, 2015)
no assertion criteria providedVCV000187817
28.
GRCh37:
Chr2:145146457-145146458
GRCh38:
Chr2:144388890-144388891
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331289
29.
GRCh37:
Chr2:145146458
GRCh38:
Chr2:144388891
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331290
30.
GRCh37:
Chr2:145146503-145146504
GRCh38:
Chr2:144388936-144388937
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331291
31.
GRCh37:
Chr2:145146504
GRCh38:
Chr2:144388937
ZEB2Mowat-Wilson syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331292
32.
GRCh37:
Chr2:145146982-145146983
GRCh38:
Chr2:144389415-144389416
ZEB2Mowat-Wilson syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000331297
33.
GRCh37:
Chr2:145147012
GRCh38:
Chr2:144389445
ZEB2not specifiedLikely benign
(Jul 1, 2016)
criteria provided, single submitterVCV000387314
34.
GRCh37:
Chr2:145147023
GRCh38:
Chr2:144389456
ZEB2M1214V, M1190VHistory of neurodevelopmental disorder, Mowat-Wilson syndrome, not specified,
not provided
Conflicting interpretations of pathogenicity
(Sep 25, 2020)
criteria provided, conflicting interpretationsVCV000331298
35.
GRCh37:
Chr2:145147053
GRCh38:
Chr2:144389486
ZEB2D1180N, D1204NMowat-Wilson syndromeUncertain significance
(Aug 8, 2019)
criteria provided, single submitterVCV000958873
36.
GRCh37:
Chr2:145147064
GRCh38:
Chr2:144389497
ZEB2E1200G, E1176GMowat-Wilson syndromeUncertain significance
(Nov 14, 2018)
criteria provided, single submitterVCV000574019
37.
GRCh37:
Chr2:145147081
GRCh38:
Chr2:144389514
ZEB2not specifiedLikely benign
(Jul 17, 2017)
criteria provided, single submitterVCV000387102
38.
GRCh37:
Chr2:145147088
GRCh38:
Chr2:144389521
ZEB2D1192A, D1168AMowat-Wilson syndromeUncertain significance
(Oct 10, 2017)
criteria provided, single submitterVCV000534636
39.
GRCh37:
Chr2:145147095-145147096
GRCh38:
Chr2:144389528-144389529
ZEB2M1166fs, M1190fsMowat-Wilson syndromePathogenic
(Mar 15, 2002)
no assertion criteria providedVCV000004763
40.
GRCh37:
Chr2:145147100
GRCh38:
Chr2:144389533
ZEB2H1188R, H1164Rnot specifiedLikely benign
(Nov 12, 2013)
criteria provided, single submitterVCV000181719
41.
GRCh37:
Chr2:145147106
GRCh38:
Chr2:144389539
ZEB2G1162A, G1186AMowat-Wilson syndromeLikely benign
(Mar 5, 2020)
criteria provided, single submitterVCV001082252
42.
GRCh37:
Chr2:145147106
GRCh38:
Chr2:144389539
ZEB2G1186V, G1162Vnot specified, Mowat-Wilson syndromeConflicting interpretations of pathogenicity
(Apr 11, 2019)
criteria provided, conflicting interpretationsVCV000391143
43.
GRCh37:
Chr2:145147111
GRCh38:
Chr2:144389544
ZEB2Hirschsprung diseaseUncertain significance
(May 16, 2019)
no assertion criteria providedVCV000691403
44.
GRCh37:
Chr2:145147119
GRCh38:
Chr2:144389552
ZEB2E1182fs, E1158fsnot providedPathogenic
(Jan 30, 2015)
no assertion criteria providedVCV000187813
45.
GRCh37:
Chr2:145147125
GRCh38:
Chr2:144389558
ZEB2R1180G, R1156GMowat-Wilson syndromeUncertain significance
(Aug 8, 2018)
criteria provided, multiple submitters, no conflictsVCV000572414
46.
GRCh37:
Chr2:145147127
GRCh38:
Chr2:144389560
ZEB2I1179T, I1155Tnot providedBenign
(Aug 23, 2018)
criteria provided, single submitterVCV000574191
47.
GRCh37:
Chr2:145147130
GRCh38:
Chr2:144389563
ZEB2T1154fs, T1178fsnot providedPathogenic
(May 16, 2013)
criteria provided, single submitterVCV000167852
48.
GRCh37:
Chr2:145147136
GRCh38:
Chr2:144389569
ZEB2P1152H, P1176HMowat-Wilson syndromeUncertain significance
(Sep 11, 2019)
criteria provided, single submitterVCV000935467
49.
GRCh37:
Chr2:145147150
GRCh38:
Chr2:144389583
ZEB2not specifiedLikely benign
(Mar 14, 2017)
criteria provided, single submitterVCV000507915
50.
GRCh37:
Chr2:145147151
GRCh38:
Chr2:144389584
ZEB2S1147N, S1171NMowat-Wilson syndromeUncertain significance
(Jul 23, 2019)
criteria provided, single submitterVCV000946194
51.
GRCh37:
Chr2:145147164
GRCh38:
Chr2:144389597
ZEB2S1143fs, S1167fsMowat-Wilson syndromePathogenic
(Sep 18, 2014)
criteria provided, single submitterVCV000181763
52.
GRCh37:
Chr2:145147168
GRCh38:
Chr2:144389601
ZEB2Mowat-Wilson syndrome, not providedLikely benign
(Feb 5, 2018)
criteria provided, single submitterVCV000703403
53.
GRCh37:
Chr2:145147174
GRCh38:
Chr2:144389607
ZEB2Mowat-Wilson syndromeLikely benign
(Jun 29, 2020)
criteria provided, single submitterVCV000701712
54.
GRCh37:
Chr2:145147183
GRCh38:
Chr2:144389616
ZEB2not providedLikely benign
(Jun 1, 2021)
criteria provided, single submitterVCV001176742
55.
GRCh37:
Chr2:145147192
GRCh38:
Chr2:144389625
ZEB2History of neurodevelopmental disorder, not specified, Mowat-Wilson syndrome
Benign
(Nov 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000095636
56.
GRCh37:
Chr2:145147194
GRCh38:
Chr2:144389627
ZEB2D1133N, D1157Nnot providedUncertain significance
(Mar 26, 2019)
criteria provided, single submitterVCV000805754
57.
GRCh37:
Chr2:145147196
GRCh38:
Chr2:144389629
ZEB2G1156A, G1132AMowat-Wilson syndromeUncertain significance
(Jul 8, 2020)
criteria provided, single submitterVCV001029312
58.
GRCh37:
Chr2:145147197
GRCh38:
Chr2:144389630
ZEB2G1132C, G1156CMowat-Wilson syndromeLikely benign
(Oct 21, 2020)
criteria provided, single submitterVCV001149290
59.
GRCh37:
Chr2:145147204
GRCh38:
Chr2:144389637
ZEB2Mowat-Wilson syndrome, not providedLikely benign
(Nov 8, 2018)
criteria provided, single submitterVCV000794862
60.
GRCh37:
Chr2:145147209
GRCh38:
Chr2:144389642
ZEB2G1128R, G1152RMowat-Wilson syndromeUncertain significance
(Jul 21, 2020)
criteria provided, single submitterVCV001036642
61.
GRCh37:
Chr2:145147211
GRCh38:
Chr2:144389644
ZEB2L1151P, L1127Pnot specifiedLikely benign
(Mar 20, 2017)
criteria provided, single submitterVCV000507959
62.
GRCh37:
Chr2:145147212
GRCh38:
Chr2:144389645
ZEB2L1151M, L1127MMowat-Wilson syndromeUncertain significance
(Dec 6, 2019)
criteria provided, single submitterVCV000466288
63.
GRCh37:
Chr2:145147219
GRCh38:
Chr2:144389652
ZEB2Mowat-Wilson syndrome, not providedConflicting interpretations of pathogenicity
(Oct 18, 2018)
criteria provided, conflicting interpretationsVCV000160325
64.
GRCh37:
Chr2:145147231
GRCh38:
Chr2:144389664
ZEB2Mowat-Wilson syndrome, not specified, History of neurodevelopmental disorder
Likely benign
(Dec 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000379072
65.
GRCh37:
Chr2:145147233
GRCh38:
Chr2:144389666
ZEB2G1120S, G1144SMowat-Wilson syndromeUncertain significance
(Aug 14, 2019)
criteria provided, single submitterVCV000946596
66.
GRCh37:
Chr2:145147243
GRCh38:
Chr2:144389676
ZEB2Mowat-Wilson syndromeLikely benign
(Aug 8, 2019)
criteria provided, single submitterVCV001157765
67.
GRCh37:
Chr2:145147254
GRCh38:
Chr2:144389687
ZEB2E1137K, E1113Knot providedUncertain significance
(Nov 5, 2013)
criteria provided, single submitterVCV000181748
68.
GRCh37:
Chr2:145147255
GRCh38:
Chr2:144389688
ZEB2S1136R, S1112RMowat-Wilson syndromeUncertain significance
(Sep 1, 2018)
criteria provided, single submitterVCV000405333
69.
GRCh37:
Chr2:145147263
GRCh38:
Chr2:144389696
ZEB2G1110S, G1134SMowat-Wilson syndromeUncertain significance
(Mar 10, 2020)
criteria provided, single submitterVCV001018933
70.
GRCh37:
Chr2:145147263-145147272
GRCh38:
Chr2:144389696-144389705
ZEB2P1131fs, P1107fsMowat-Wilson syndromePathogenic
(Mar 2, 2015)
no assertion criteria providedVCV000189282
71.
GRCh37:
Chr2:145147279
GRCh38:
Chr2:144389712
ZEB2E1104D, E1128DMowat-Wilson syndromeLikely benign
(Oct 6, 2020)
criteria provided, single submitterVCV001092607
72.
GRCh37:
Chr2:145147299-145147304
GRCh38:
Chr2:144389732-144389737
ZEB2G1096fs, G1120fsnot provided, Mowat-Wilson syndromePathogenic
(Feb 25, 2013)
criteria provided, single submitterVCV000095635
73.
GRCh37:
Chr2:145147306
GRCh38:
Chr2:144389739
ZEB2Q1119H, Q1095HMowat-Wilson syndromeUncertain significance
(Jul 18, 2019)
criteria provided, single submitterVCV000534639
74.
GRCh37:
Chr2:145147307
GRCh38:
Chr2:144389740
ZEB2Q1119R, Q1095RMowat-Wilson syndromePathogenic
(Jun 1, 2006)
no assertion criteria providedVCV000004768
75.
GRCh37:
Chr2:145147310
GRCh38:
Chr2:144389743
ZEB2P1118H, P1094Hnot providedUncertain significance
(Apr 10, 2019)
criteria provided, single submitterVCV000378871
76.
GRCh37:
Chr2:145147326
GRCh38:
Chr2:144389759
ZEB2L1113M, L1089MMowat-Wilson syndrome, not specifiedLikely benign
(Jan 30, 2019)
criteria provided, multiple submitters, no conflictsVCV000181747
77.
GRCh37:
Chr2:145147334
GRCh38:
Chr2:144389767
ZEB2R1110Q, R1086Qnot providedUncertain significance
(Jun 19, 2018)
criteria provided, single submitterVCV000586947
78.
GRCh37:
Chr2:145147336
GRCh38:
Chr2:144389769
ZEB2N1109K, N1085Knot provided, Mowat-Wilson syndromeBenign
(Oct 11, 2018)
criteria provided, single submitterVCV000466287
79.
GRCh37:
Chr2:145147345
GRCh38:
Chr2:144389778
ZEB2Mowat-Wilson syndromeLikely benign
(Oct 7, 2020)
criteria provided, single submitterVCV001115638
80.
GRCh37:
Chr2:145147351
GRCh38:
Chr2:144389784
ZEB2History of neurodevelopmental disorderLikely benign
(Jul 29, 2016)
criteria provided, single submitterVCV000588118
81.
GRCh37:
Chr2:145147352
GRCh38:
Chr2:144389785
ZEB2T1080I, T1104IMowat-Wilson syndromeLikely benign
(Oct 24, 2019)
criteria provided, single submitterVCV000833882
82.
GRCh37:
Chr2:145147355
GRCh38:
Chr2:144389788
ZEB2P1103H, P1079HMowat-Wilson syndromeUncertain significance
(Dec 26, 2018)
criteria provided, single submitterVCV000665219
83.
GRCh37:
Chr2:145147359
GRCh38:
Chr2:144389792
ZEB2E1102K, E1078Knot specifiedLikely benign
(Jan 23, 2017)
criteria provided, single submitterVCV000437323
84.
GRCh37:
Chr2:145147365
GRCh38:
Chr2:144389798
ZEB2H1100Y, H1076YMowat-Wilson syndromeUncertain significance
(Nov 4, 2018)
criteria provided, single submitterVCV000645103
85.
GRCh37:
Chr2:145147368
GRCh38:
Chr2:144389801
ZEB2G1075R, G1099RMowat-Wilson syndromeLikely benign
(Dec 17, 2019)
criteria provided, single submitterVCV000833618
86.
GRCh37:
Chr2:145147377
GRCh38:
Chr2:144389810
ZEB2R1096S, R1072Snot providedLikely benign
(May 9, 2018)
criteria provided, single submitterVCV000668149
87.
GRCh37:
Chr2:145147378
GRCh38:
Chr2:144389811
ZEB2Mowat-Wilson syndromeBenign
(May 26, 2020)
criteria provided, single submitterVCV000700655
88.
GRCh37:
Chr2:145147383
GRCh38:
Chr2:144389816
ZEB2E1094K, E1070KMowat-Wilson syndromeUncertain significance
(Nov 21, 2019)
criteria provided, single submitterVCV000852429
89.
GRCh37:
Chr2:145147386
GRCh38:
Chr2:144389819
ZEB2R1093G, R1069Gnot providedUncertain significance
(Jan 29, 2013)
criteria provided, single submitterVCV000181746
90.
GRCh37:
Chr2:145147396
GRCh38:
Chr2:144389829
ZEB2E1089D, E1065DMowat-Wilson syndrome, Lennox-Gastaut syndromeUncertain significance
(Dec 7, 2017)
criteria provided, single submitterVCV000534635
91.
GRCh37:
Chr2:145147399
GRCh38:
Chr2:144389832
ZEB2History of neurodevelopmental disorderLikely benign
(Jan 26, 2017)
criteria provided, single submitterVCV000588731
92.
GRCh37:
Chr2:145147420
GRCh38:
Chr2:144389853
ZEB2C1081*, C1057*not providedPathogenic
(Aug 6, 2018)
criteria provided, single submitterVCV000620299
93.
GRCh37:
Chr2:145147422
GRCh38:
Chr2:144389855
ZEB2C1081S, C1057Snot providedLikely pathogenic
(Aug 9, 2016)
criteria provided, single submitterVCV000290241
94.
GRCh37:
Chr2:145147444
GRCh38:
Chr2:144389877
ZEB2not provided, not specified, Mowat-Wilson syndrome
Conflicting interpretations of pathogenicity
(Dec 3, 2019)
criteria provided, conflicting interpretationsVCV000193714
95.
GRCh37:
Chr2:145147445
GRCh38:
Chr2:144389878
ZEB2H1049R, H1073Rnot providedPathogenic
(Oct 1, 2019)
criteria provided, single submitterVCV000871532
96.
GRCh37:
Chr2:145147449
GRCh38:
Chr2:144389882
ZEB2Q1048*, Q1072*not providedPathogenic
(Oct 15, 2019)
criteria provided, single submitterVCV000916107
97.
GRCh37:
Chr2:145147449-145147450
GRCh38:
Chr2:144389882-144389883
ZEB2Q1072fs, Q1048fsnot providedPathogenic
(Feb 21, 2018)
criteria provided, single submitterVCV000504383
98.
GRCh37:
Chr2:145147452
GRCh38:
Chr2:144389885
ZEB2S1071P, S1047PMowat-Wilson syndromePathogenic
(Jul 1, 2013)
no assertion criteria providedVCV000056826
99.
GRCh37:
Chr2:145147456-145147461
GRCh38:
Chr2:144389889-144389894
ZEB2Mowat-Wilson syndromeUncertain significance
(Aug 31, 2017)
criteria provided, single submitterVCV000534640
100.
GRCh37:
Chr2:145147457
GRCh38:
Chr2:144389890
ZEB2S1069*, S1045*not providedPathogenic
(Nov 24, 2017)
criteria provided, single submitterVCV000489157
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