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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:144657717-159178136
GRCh38:
Chr2:143900149-158321624
See casesPathogenic
(Jul 30, 2009)
no assertion criteria providedVCV000146076
2.
GRCh37:
Chr2:146228621-150439084
GRCh38:
Chr2:145471053-149582570
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000152517
3.
GRCh37:
Chr2:147081759-157075637
GRCh38:
Chr2:146324191-156219125
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000154515
4.
GRCh37:
Chr2:148009516-158712890
GRCh38:
Chr2:147251948-157856378
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060216
5.
GRCh37:
Chr2:148230762-150136354
GRCh38:
Chr2:147473194-149279840
ACVR2A, KIF5C, ORC4, EPC2, MBD5, LYPD6BSee casesUncertain significance
(Nov 30, 2010)
no assertion criteria providedVCV000146065
6.
GRCh37:
Chr2:148347892-154353187
GRCh38:
Chr2:147590324-153496674
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060217
7.
GRCh37:
Chr2:148438001-148977722
GRCh38:
Chr2:147680433-148220153
ACVR2A, ORC4, MBD5See casesLikely pathogenic
(Aug 2, 2011)
no assertion criteria providedVCV000150047
8.
GRCh37:
Chr2:148471340-148934846
GRCh38:
Chr2:147713771-148177277
ACVR2A, ORC4, MBD5See casesLikely pathogenic
(Sep 1, 2017)
criteria provided, single submitterVCV000057146
9.
GRCh37:
Chr2:148490468-148913835
GRCh38:
Chr2:147732899-148156266
ACVR2A, ORC4, MBD5See casesPathogenic
(Jul 22, 2013)
no assertion criteria providedVCV000153625
10.
GRCh37:
Chr2:148715921-149020805
GRCh38:
Chr2:147958352-148263236
MBD5, ORC4Mental retardation, autosomal dominant 1Pathogenic
(Jun 1, 2014)
no assertion criteria providedVCV000183385
11.
GRCh37:
Chr2:148727068-148859804
GRCh38:
Chr2:147969499-148102235
ORC4, MBD5See casesLikely benign
(Jan 25, 2013)
no assertion criteria providedVCV000154732
12.
GRCh37:
Chr2:148727068-148879681
GRCh38:
Chr2:147969499-148122112
ORC4, MBD5See casesLikely pathogenic
(Oct 10, 2011)
no assertion criteria providedVCV000148360
13.
GRCh37:
Chr2:148731026-149660827
GRCh38:
Chr2:147973457-148903258
KIF5C, ORC4, EPC2, MBD5Mental retardation, autosomal dominant 1Pathogenic
(Jun 1, 2014)
no assertion criteria providedVCV000183383
14.
GRCh37:
Chr2:148743880-148955720
GRCh38:
Chr2:147986311-148198151
ORC4, MBD5See casesPathogenic
(Sep 4, 2012)
no assertion criteria providedVCV000154938
15.
GRCh37:
Chr2:148746282-148826698
GRCh38:
Chr2:147988713-148069129
ORC4, MBD5See casesLikely pathogenic
(Sep 18, 2013)
no assertion criteria providedVCV000153814
16.
GRCh38:
Chr2:147990605-148350066
ORC4, MBD5SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545246
17.
GRCh37:
Chr2:148778603
GRCh38:
Chr2:148021034
ORC4, MBD5not specifiedLikely benign
(Sep 29, 2016)
criteria provided, single submitterVCV000381693
18.
GRCh37:
Chr2:148778604
GRCh38:
Chr2:148021035
ORC4, MBD5not specifiedLikely benign
(Feb 10, 2017)
criteria provided, single submitterVCV000517739
19.
GRCh37:
Chr2:148778631
GRCh38:
Chr2:148021062
ORC4, MBD5not specifiedLikely benign
(Oct 16, 2015)
criteria provided, single submitterVCV000381112
20.
GRCh37:
Chr2:148779245
GRCh38:
Chr2:148021676
MBD5not specifiedLikely benign
(Feb 27, 2017)
criteria provided, single submitterVCV000378113
21.
GRCh37:
Chr2:148779271
GRCh38:
Chr2:148021702
MBD5not specifiedLikely benign
(Jun 6, 2016)
criteria provided, single submitterVCV000386656
22.
GRCh37:
Chr2:148787051-149060763
GRCh38:
Chr2:148029482-148303194
MBD5See casesUncertain significance
(Feb 16, 2018)
no assertion criteria providedVCV000148899
23.
GRCh37:
Chr2:148810360-149187113
GRCh38:
Chr2:148052791-148429544
MBD5See casesUncertain significance
(Jul 18, 2014)
no assertion criteria providedVCV000154051
24.
GRCh38:
Chr2:148139385-148242336
MBD5SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545247
25.
GRCh38:
Chr2:148157591-148226058
MBD5Autistic disorder of childhood onset, SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545248
26.
GRCh38:
Chr2:148158424-148226279
MBD5SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545249
27.
GRCh37:
Chr2:148934787-148977722
GRCh38:
Chr2:148177218-148220153
MBD5See casesLikely pathogenic
(Jun 20, 2011)
no assertion criteria providedVCV000149709
28.
GRCh37:
Chr2:148936266
GRCh38:
Chr2:148178697
MBD5not providedLikely benign
(May 2, 2018)
criteria provided, single submitterVCV000682419
29.
GRCh37:
Chr2:148936371
GRCh38:
Chr2:148178802
MBD5Intellectual Disability, Dominant, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000206049
30.
GRCh38:
Chr2:148211972-148423169
MBD5SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545250
31.
GRCh37:
Chr2:148990815
GRCh38:
Chr2:148233246
MBD5Intellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331320
32.
GRCh37:
Chr2:148990818
GRCh38:
Chr2:148233249
MBD5not specifiedLikely benign
(Aug 2, 2017)
criteria provided, single submitterVCV000511202
33.
GRCh37:
Chr2:148990951
GRCh38:
Chr2:148233382
MBD5not specifiedLikely benign
(Oct 28, 2016)
criteria provided, single submitterVCV000390534
34.
GRCh37:
Chr2:149099799
GRCh38:
Chr2:148342230
MBD5Intellectual Disability, Dominant, not specifiedConflicting interpretations of pathogenicity
(Sep 1, 2017)
criteria provided, conflicting interpretationsVCV000331321
35.
GRCh37:
Chr2:149099802
GRCh38:
Chr2:148342233
MBD5not specifiedLikely benign
(Jan 23, 2017)
criteria provided, single submitterVCV000507022
36.
GRCh37:
Chr2:149099803
GRCh38:
Chr2:148342234
MBD5Intellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331322
37.
GRCh37:
Chr2:149099871
GRCh38:
Chr2:148342302
MBD5Intellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331323
38.
GRCh37:
Chr2:149099889
GRCh38:
Chr2:148342320
MBD5Intellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331324
39.
GRCh37:
Chr2:149099911
GRCh38:
Chr2:148342342
MBD5not specifiedLikely benign
(Sep 7, 2017)
criteria provided, single submitterVCV000511860
40.
GRCh37:
Chr2:149198443-149948302
GRCh38:
Chr2:148440874-149091788
KIF5C, EPC2, MBD5, LYPD6BSee casesPathogenic
(Oct 24, 2012)
no assertion criteria providedVCV000150817
41.
GRCh37:
Chr2:149198443-149434604
GRCh38:
Chr2:148440874-148677035
EPC2, MBD5See casesUncertain significance
(Jun 1, 2012)
no assertion criteria providedVCV000148618
42.
GRCh37:
Chr2:149215764
GRCh38:
Chr2:148458195
MBD5Intellectual Disability, Dominant, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000138171
43.
GRCh37:
Chr2:149215871
GRCh38:
Chr2:148458302
MBD5Intellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331326
44.
GRCh37:
Chr2:149216032
GRCh38:
Chr2:148458463
MBD5Intellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331327
45.
GRCh37:
Chr2:149216104
GRCh38:
Chr2:148458535
MBD5Intellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331328
46.
GRCh37:
Chr2:149216265
GRCh38:
Chr2:148458696
MBD5Intellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331329
47.
GRCh37:
Chr2:149216308-149270530
GRCh38:
Chr2:148458739-148512961
MBD5Mental retardation, autosomal dominant 1Uncertain significance
(Nov 1, 2018)
criteria provided, single submitterVCV000583570
48.
GRCh37:
Chr2:149216335
GRCh38:
Chr2:148458766
MBD5G3Vnot providedUncertain significance
(Apr 3, 2015)
criteria provided, single submitterVCV000198229
49.
GRCh37:
Chr2:149216346
GRCh38:
Chr2:148458777
MBD5C7RMental retardation, autosomal dominant 1Uncertain significance
(Nov 28, 2018)
criteria provided, single submitterVCV000662420
50.
GRCh37:
Chr2:149216346
GRCh38:
Chr2:148458777
MBD5C7Snot specified, Mental retardation, autosomal dominant 1Uncertain significance
(Dec 24, 2018)
criteria provided, multiple submitters, no conflictsVCV000373711
51.
GRCh37:
Chr2:149216352
GRCh38:
Chr2:148458783
MBD5G9RMental retardation, autosomal dominant 1Uncertain significance
(Jul 3, 2018)
criteria provided, single submitterVCV000579901
52.
GRCh37:
Chr2:149216373
GRCh38:
Chr2:148458804
MBD5L16IMental retardation, autosomal dominant 1, not specifiedConflicting interpretations of pathogenicity
(Sep 21, 2018)
criteria provided, conflicting interpretationsVCV000516380
53.
GRCh37:
Chr2:149216382
GRCh38:
Chr2:148458813
MBD5I19VMental retardation, autosomal dominant 1Uncertain significance
(Apr 5, 2018)
criteria provided, single submitterVCV000570971
54.
GRCh37:
Chr2:149216387
GRCh38:
Chr2:148458818
MBD5History of neurodevelopmental disorder, not specifiedConflicting interpretations of pathogenicity
(Aug 24, 2016)
criteria provided, conflicting interpretationsVCV000386565
55.
GRCh37:
Chr2:149216396
GRCh38:
Chr2:148458827
MBD5History of neurodevelopmental disorder, not provided, not specified
Conflicting interpretations of pathogenicity
(Dec 28, 2018)
criteria provided, conflicting interpretationsVCV000198228
56.
GRCh37:
Chr2:149216402
GRCh38:
Chr2:148458833
MBD5W25*Inborn genetic diseasesPathogenic
(Jul 20, 2016)
criteria provided, single submitterVCV000521204
57.
GRCh37:
Chr2:149216408
GRCh38:
Chr2:148458839
MBD5not providedLikely benign
(Dec 17, 2018)
criteria provided, single submitterVCV000796809
58.
GRCh37:
Chr2:149216429
GRCh38:
Chr2:148458860
MBD5not specifiedLikely benign
(May 5, 2016)
criteria provided, single submitterVCV000385757
59.
GRCh37:
Chr2:149216444
GRCh38:
Chr2:148458875
MBD5not specifiedLikely benign
(Jun 7, 2017)
criteria provided, single submitterVCV000516167
60.
GRCh37:
Chr2:149216448
GRCh38:
Chr2:148458879
MBD5Intellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331330
61.
GRCh37:
Chr2:149216454
GRCh38:
Chr2:148458885
MBD5not providedLikely benign
(Mar 21, 2018)
criteria provided, single submitterVCV000669032
62.
GRCh37:
Chr2:149216606-149216607
GRCh38:
Chr2:148459037-148459038
MBD5not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000677680
63.
GRCh37:
Chr2:149216661
GRCh38:
Chr2:148459092
MBD5not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000683131
64.
GRCh37:
Chr2:149220135
GRCh38:
Chr2:148462566
MBD5not specifiedLikely benign
(Dec 12, 2016)
criteria provided, single submitterVCV000422845
65.
GRCh37:
Chr2:149220149
GRCh38:
Chr2:148462580
MBD5Mental retardation, autosomal dominant 1Likely pathogenic
(Nov 28, 2018)
criteria provided, single submitterVCV000658842
66.
GRCh37:
Chr2:149220187
GRCh38:
Chr2:148462618
MBD5T52fsMental retardation, autosomal dominant 1Pathogenic
(Jul 21, 2016)
no assertion criteria providedVCV000088896
67.
GRCh37:
Chr2:149220193
GRCh38:
Chr2:148462624
MBD5not providedBenign
(Oct 5, 2018)
criteria provided, single submitterVCV000468770
68.
GRCh37:
Chr2:149220242
GRCh38:
Chr2:148462673
MBD5I69Vnot specified, not providedConflicting interpretations of pathogenicity
(Feb 6, 2017)
criteria provided, conflicting interpretationsVCV000206057
69.
GRCh37:
Chr2:149220268
GRCh38:
Chr2:148462699
MBD5not specifiedLikely benign
(Jul 6, 2016)
criteria provided, single submitterVCV000387500
70.
GRCh37:
Chr2:149221292
GRCh38:
Chr2:148463723
MBD5not specifiedBenign
(Dec 31, 2014)
criteria provided, single submitterVCV000206050
71.
GRCh37:
Chr2:149221327
GRCh38:
Chr2:148463758
MBD5G79EHistory of neurodevelopmental disorder, MBD5 associated neurodevelopmental disorder, not specified,
not provided, Mental retardation, autosomal dominant 1
Conflicting interpretations of pathogenicity
(May 28, 2019)
criteria provided, conflicting interpretationsVCV000198891
72.
GRCh37:
Chr2:149221338
GRCh38:
Chr2:148463769
MBD5K83EMental retardation, autosomal dominant 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000566254
73.
GRCh37:
Chr2:149221349
GRCh38:
Chr2:148463780
MBD5not providedUncertain significance
(Aug 28, 2015)
criteria provided, single submitterVCV000283003
74.
GRCh37:
Chr2:149221355
GRCh38:
Chr2:148463786
MBD5not providedLikely benign
(Feb 10, 2018)
criteria provided, single submitterVCV000702589
75.
GRCh37:
Chr2:149221358
GRCh38:
Chr2:148463789
MBD5not specified, not providedLikely benign
(Feb 5, 2019)
criteria provided, multiple submitters, no conflictsVCV000211437
76.
GRCh37:
Chr2:149221359
GRCh38:
Chr2:148463790
MBD5V90IMental retardation, autosomal dominant 1Uncertain significance
(Sep 8, 2017)
criteria provided, single submitterVCV000536666
77.
GRCh37:
Chr2:149221365
GRCh38:
Chr2:148463796
MBD5A92THistory of neurodevelopmental disorder, Mental retardation, autosomal dominant 1, Intellectual Disability, Dominant
Uncertain significance
(Sep 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000331331
78.
GRCh37:
Chr2:149221367
GRCh38:
Chr2:148463798
MBD5not provided, not specifiedConflicting interpretations of pathogenicity
(Jan 31, 2019)
criteria provided, conflicting interpretationsVCV000447708
79.
GRCh37:
Chr2:149221388
GRCh38:
Chr2:148463819
MBD5History of neurodevelopmental disorder, not specified, not provided
Benign
(Mar 4, 2019)
criteria provided, multiple submitters, no conflictsVCV000138172
80.
GRCh37:
Chr2:149221393
GRCh38:
Chr2:148463824
MBD5I101TMental retardation, autosomal dominant 1Uncertain significance
(Jan 29, 2018)
criteria provided, single submitterVCV000566765
81.
GRCh37:
Chr2:149221412
GRCh38:
Chr2:148463843
MBD5I107MMental retardation, autosomal dominant 1Uncertain significance
(Jun 6, 2017)
criteria provided, single submitterVCV000468780
82.
GRCh37:
Chr2:149221418
GRCh38:
Chr2:148463849
MBD5not specifiedLikely benign
(Jan 6, 2016)
criteria provided, single submitterVCV000382529
83.
GRCh37:
Chr2:149221419
GRCh38:
Chr2:148463850
MBD5A110Tnot providedUncertain significance
(Aug 7, 2017)
criteria provided, single submitterVCV000451107
84.
GRCh37:
Chr2:149221431-149221438
GRCh38:
Chr2:148463862-148463869
MBD5K114fsMental retardation, autosomal dominant 1, not providedPathogenic
(Jun 13, 2014)
criteria provided, single submitterVCV000198890
85.
GRCh37:
Chr2:149221445
GRCh38:
Chr2:148463876
MBD5not specifiedLikely benign
(Feb 22, 2018)
criteria provided, single submitterVCV000515603
86.
GRCh37:
Chr2:149221452-149221453
GRCh38:
Chr2:148463883-148463884
MBD5P121fsnot providedPathogenic
(Nov 27, 2017)
criteria provided, single submitterVCV000503821
87.
GRCh37:
Chr2:149221470
GRCh38:
Chr2:148463901
MBD5S127fsMental retardation, autosomal dominant 1Pathogenic
(Nov 6, 2017)
criteria provided, single submitterVCV000536672
88.
GRCh37:
Chr2:149221475
GRCh38:
Chr2:148463906
MBD5Mental retardation, autosomal dominant 1Likely benign
(Dec 29, 2017)
criteria provided, single submitterVCV000536681
89.
GRCh37:
Chr2:149221476
GRCh38:
Chr2:148463907
MBD5G129RMental retardation, autosomal dominant 1Uncertain significance
(Nov 26, 2018)
criteria provided, single submitterVCV000643400
90.
GRCh37:
Chr2:149221489
GRCh38:
Chr2:148463920
MBD5Mental retardation, autosomal dominant 1Pathogenic
(Nov 10, 2018)
criteria provided, single submitterVCV000536667
91.
GRCh37:
Chr2:149221508
GRCh38:
Chr2:148463939
MBD5not specifiedLikely benign
(Mar 31, 2016)
criteria provided, single submitterVCV000384958
92.
GRCh37:
Chr2:149225898
GRCh38:
Chr2:148468329
MBD5Intellectual Disability, Dominant, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000138173
93.
GRCh37:
Chr2:149225921
GRCh38:
Chr2:148468352
MBD5V137Inot providedUncertain significance
(Jun 13, 2017)
criteria provided, single submitterVCV000432737
94.
GRCh37:
Chr2:149225927
GRCh38:
Chr2:148468358
MBD5P139Snot providedUncertain significance
(Oct 10, 2018)
criteria provided, single submitterVCV000586136
95.
GRCh37:
Chr2:149225934
GRCh38:
Chr2:148468365
MBD5R141QHistory of neurodevelopmental disorder, not providedConflicting interpretations of pathogenicity
(Oct 27, 2017)
criteria provided, conflicting interpretationsVCV000449658
96.
GRCh37:
Chr2:149225943
GRCh38:
Chr2:148468374
MBD5T144IMental retardation, autosomal dominant 1Uncertain significance
(Apr 16, 2018)
criteria provided, single submitterVCV000549480
97.
GRCh37:
Chr2:149225952
GRCh38:
Chr2:148468383
MBD5S147*Mental retardation, autosomal dominant 1, not providedPathogenic
(Feb 20, 2018)
criteria provided, single submitterVCV000267726
98.
GRCh37:
Chr2:149225983
GRCh38:
Chr2:148468414
MBD5not provided, not specifiedBenign/Likely benign
(Feb 11, 2019)
criteria provided, multiple submitters, no conflictsVCV000378114
99.
GRCh37:
Chr2:149225988
GRCh38:
Chr2:148468419
MBD5S159Fnot providedUncertain significance
(Jan 23, 2017)
criteria provided, single submitterVCV000499408
100.
GRCh37:
Chr2:149226000
GRCh38:
Chr2:148468431
MBD5E163Gnot providedUncertain significance
(Jun 11, 2014)
criteria provided, single submitterVCV000206058
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