S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 1 to 100 of 165

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:153295802
GRCh38:
ChrX:154030351
MECP2not specifiedLikely benign
(Sep 2, 2016)
criteria provided, single submitter
2.
GRCh37:
ChrX:153295805
GRCh38:
ChrX:154030354
MECP2not specifiedLikely benign
(Apr 22, 2016)
criteria provided, single submitter
3.
GRCh37:
ChrX:153295817
GRCh38:
ChrX:154030366
MECP2not specifiedLikely benign
(Sep 18, 2015)
criteria provided, single submitter
4.
GRCh37:
ChrX:153295832
GRCh38:
ChrX:154030381
MECP2not specifiedUncertain significance
(Dec 5, 2016)
criteria provided, single submitter
5.
GRCh37:
ChrX:153295838
GRCh38:
ChrX:154030387
MECP2Rett syndrome, not specifiedUncertain significance
(Jun 17, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
ChrX:153295842
GRCh38:
ChrX:154030391
MECP2not specifiedGO-ESP:0.00009(T)Conflicting interpretations of pathogenicity
(Jun 16, 2016)
criteria provided, conflicting interpretations
7.
GRCh37:
ChrX:153295846
GRCh38:
ChrX:154030395
MECP2not specifiedConflicting interpretations of pathogenicity
(Jul 1, 2016)
criteria provided, conflicting interpretations
8.
GRCh37:
ChrX:153295867
GRCh38:
ChrX:154030416
MECP2not specifiedLikely benign
(Mar 24, 2015)
criteria provided, single submitter
9.
GRCh37:
ChrX:153295875
GRCh38:
ChrX:154030424
MECP2not specifiedGO-ESP:0.00001(T)Conflicting interpretations of pathogenicity
(Jun 17, 2016)
criteria provided, conflicting interpretations
10.
GRCh37:
ChrX:153295944
GRCh38:
ChrX:154030493
MECP2Angelman syndrome, Mental retardation, X-linked, syndromic 13, Rett syndrome,
not specified
GO-ESP:0.00312(T)
GMAF:0.00290(T)
Benign
(Jan 18, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
ChrX:153295949
GRCh38:
ChrX:154030498
MECP2not specified, not providedGO-ESP:0.00085(T)
GMAF:0.00030(T)
GO-ESP:0.00103(T)
Benign
(Dec 23, 2015)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
ChrX:153295952
GRCh38:
ChrX:154030501
MECP2Mental retardation, X-linked, syndromic 13, Rett syndrome, not specified,
not provided
GO-ESP:0.00006(T)Conflicting interpretations of pathogenicity
(Jul 31, 2016)
criteria provided, conflicting interpretations
13.
GRCh37:
ChrX:153295964
GRCh38:
ChrX:154030513
MECP2Mental retardation, X-linked, syndromic 13, Autism, susceptibility to, X-linked 3, not specified,
Attention deficit hyperactivity disorder
GO-ESP:0.00028(T)
GO-ESP:0.00019(T)
Benign/Likely benign
(Dec 15, 2016)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
ChrX:153295989
GRCh38:
ChrX:154030538
MECP2not providedPathogenic
(Aug 23, 2012)
criteria provided, single submitter
15.
GRCh37:
ChrX:153295997
GRCh38:
ChrX:154030546
MECP2Encephalopathy, neonatal severe, due to mecp2 mutation, not specifiedGO-ESP:0.00013(T)Conflicting interpretations of pathogenicity
(May 19, 2015)
criteria provided, conflicting interpretations
16.
GRCh37:
ChrX:153296013-153296118
GRCh38:
ChrX:154030562-154030667
MECP2not providedPathogenic
(Sep 7, 2016)
criteria provided, single submitter
17.
GRCh37:
ChrX:153296013
GRCh38:
ChrX:154030562
MECP2not specifiedGMAF:0.00030(A)
GO-ESP:0.00009(A)
Benign
(Sep 11, 2015)
criteria provided, single submitter
18.
GRCh37:
ChrX:153296024
GRCh38:
ChrX:154030573
MECP2not specifiedGO-ESP:0.00005(A)Uncertain significance
(Jan 6, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
ChrX:153296042
GRCh38:
ChrX:154030591
MECP2not specifiedConflicting interpretations of pathogenicity
(Jul 17, 2015)
criteria provided, conflicting interpretations
20.
GRCh37:
ChrX:153296063
GRCh38:
ChrX:154030612
MECP2Mental retardation, X-linked, syndromic 13, Rett syndrome, not provided
Pathogenic
(May 6, 2014)
criteria provided, single submitter
21.
GRCh37:
ChrX:153296064
GRCh38:
ChrX:154030613
MECP2not specifiedGMAF:0.00030(A)
GO-ESP:0.00014(A)
Benign/Likely benign
(Dec 23, 2015)
criteria provided, single submitter
22.
GRCh37:
ChrX:153296065
GRCh38:
ChrX:154030614
MECP2Mental retardation, X-linked, syndromic 13, Rett syndrome, not specified
GO-ESP:0.00001(A)Uncertain significance
(Jul 29, 2015)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
ChrX:153296071
GRCh38:
ChrX:154030620
MECP2not specifiedUncertain significance
(Jun 19, 2015)
criteria provided, single submitter
24.
GRCh37:
ChrX:153296072-153296115
GRCh38:
ChrX:154030621-154030664
MECP2Severe neonatal-onset encephalopathy with microcephaly, Mental retardation, X-linked, syndromic 13, Rett syndrome,
Autism, susceptibility to, X-linked 3, not specified, not provided,
Delayed speech and language development, Delayed gross motor development, Loss of ability to walk
Conflicting interpretations of pathogenicity
(Dec 13, 2016)
criteria provided, conflicting interpretations
25.
GRCh37:
ChrX:153296073
GRCh38:
ChrX:154030622
MECP2not specifiedGMAF:0.00030(A)
GO-ESP:0.00025(A)
Benign/Likely benign
(Jan 26, 2017)
criteria provided, single submitter
26.
GRCh37:
ChrX:153296074
GRCh38:
ChrX:154030623
MECP2not specifiedGMAF:0.00050(A)
GO-ESP:0.00009(A)
Benign
(May 29, 2013)
criteria provided, single submitter
27.
GRCh37:
ChrX:153296075
GRCh38:
ChrX:154030624
MECP2not specifiedLikely benign
(Dec 16, 2015)
criteria provided, single submitter
28.
GRCh37:
ChrX:153296076
GRCh38:
ChrX:154030625
MECP2not specifiedLikely benign
(Dec 15, 2015)
criteria provided, single submitter
29.
GRCh37:
ChrX:153296081-153296150
GRCh38:
ChrX:154030630-154030699
MECP2not providedPathogenic
(Dec 11, 2013)
criteria provided, single submitter
30.
GRCh37:
ChrX:153296082-153296122
GRCh38:
ChrX:154030631-154030671
MECP2Mental retardation, X-linked, syndromic 13, Rett syndrome, Autism, susceptibility to, X-linked 3,
not provided
Pathogenic
(Apr 2, 2016)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
ChrX:153296082
GRCh38:
ChrX:154030631
MECP2not specifiedGO-ESP:0.00048(A)
GO-ESP:0.00095(A)
Benign
(Mar 10, 2015)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
ChrX:153296090
GRCh38:
ChrX:154030639
MECP2Rett syndrome, not specified, not provided
GO-ESP:0.00295(T)
GMAF:0.00160(T)
Conflicting interpretations of pathogenicity
(Jul 15, 2016)
criteria provided, conflicting interpretations
33.
GRCh37:
ChrX:153296091-153296194
GRCh38:
ChrX:154030640-154030743
MECP2not providedPathogenic
(Jul 31, 2013)
criteria provided, single submitter
34.
GRCh37:
ChrX:153296099
GRCh38:
ChrX:154030648
MECP2Rett syndrome, not specifiedGO-ESP:0.00010(T)Benign/Likely benign
(Aug 23, 2016)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
ChrX:153296100
GRCh38:
ChrX:154030649
MECP2not specifiedLikely benign
(Mar 25, 2016)
criteria provided, single submitter
36.
GRCh37:
ChrX:153296106-153296111
GRCh38:
ChrX:154030655-154030660
MECP2Rett syndrome, not specified, not provided
GMAF:0.00050(-)
GO-ESP:0.00009(-)
Benign/Likely benign
(Jul 7, 2015)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
ChrX:153296108-153296134
GRCh38:
ChrX:154030657-154030683
MECP2not providedUncertain significance
(Apr 22, 2014)
criteria provided, single submitter
38.
GRCh37:
ChrX:153296113-153296119
GRCh38:
ChrX:154030662-154030668
MECP2Rett syndrome, not providedPathogenic
(Oct 14, 2016)
criteria provided, single submitter
39.
GRCh37:
ChrX:153296117
GRCh38:
ChrX:154030666
MECP2Rett syndrome, not specifiedBenign/Likely benign
(Jun 30, 2016)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
ChrX:153296117
GRCh38:
ChrX:154030666
MECP2Rett syndrome, not specifiedUncertain significance
(Aug 17, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
ChrX:153296125
GRCh38:
ChrX:154030674
MECP2not specifiedGO-ESP:0.00001(T)Likely benign
(Jun 30, 2016)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
ChrX:153296139
GRCh38:
ChrX:154030688
MECP2not specifiedGMAF:0.00050(T)
GO-ESP:0.00011(T)
Conflicting interpretations of pathogenicity
(Jun 16, 2016)
criteria provided, conflicting interpretations
43.
GRCh37:
ChrX:153296141
GRCh38:
ChrX:154030690
MECP2Mental retardation, X-linked, syndromic 13, Rett syndrome, not specified
GMAF:0.00030(T)
GO-ESP:0.00028(T)
Conflicting interpretations of pathogenicity
(Mar 17, 2016)
criteria provided, conflicting interpretations
44.
GRCh37:
ChrX:153296147
GRCh38:
ChrX:154030696
MECP2not specifiedLikely benign
(Jun 9, 2016)
criteria provided, single submitter
45.
GRCh37:
ChrX:153296147
GRCh38:
ChrX:154030696
MECP2not specifiedGO-ESP:0.00001(A)Likely benign
(Jan 6, 2016)
criteria provided, single submitter
46.
GRCh37:
ChrX:153296153
GRCh38:
ChrX:154030702
MECP2not specifiedGO-ESP:0.00136(A)
GMAF:0.00030(A)
GO-ESP:0.00086(A)
Benign/Likely benign
(Jul 16, 2015)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
ChrX:153296173-153296178
GRCh38:
ChrX:154030722-154030727
MECP2not specifiedUncertain significance
(May 6, 2015)
criteria provided, single submitter
48.
GRCh37:
ChrX:153296182-153296272
GRCh38:
ChrX:154030731-154030821
MECP2not providedPathogenic
(Jul 25, 2014)
criteria provided, single submitter
49.
GRCh37:
ChrX:153296193
GRCh38:
ChrX:154030742
MECP2not providedPathogenic
(Apr 26, 2016)
criteria provided, single submitter
50.
GRCh37:
ChrX:153296193
GRCh38:
ChrX:154030742
MECP2not providedPathogenic
(May 23, 2013)
criteria provided, single submitter
51.
GRCh37:
ChrX:153296204
GRCh38:
ChrX:154030753
MECP2not specifiedGO-ESP:0.00005(G)Benign/Likely benign
(Aug 14, 2015)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
ChrX:153296207
GRCh38:
ChrX:154030756
MECP2Rett syndrome, not specifiedGO-ESP:0.00047(T)
GMAF:0.00030(T)
GO-ESP:0.00027(T)
Benign/Likely benign
(Mar 16, 2016)
criteria provided, single submitter
53.
GRCh37:
ChrX:153296208
GRCh38:
ChrX:154030757
MECP2Angelman syndrome, Mental retardation, X-linked, syndromic 13, Rett syndrome,
not specified
GO-ESP:0.00018(A)Benign/Likely benign
(Mar 13, 2016)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
ChrX:153296217
GRCh38:
ChrX:154030766
MECP2not specifiedLikely benign
(Sep 9, 2016)
criteria provided, single submitter
55.
GRCh37:
ChrX:153296238
GRCh38:
ChrX:154030787
MECP2not specifiedLikely benign
(Mar 14, 2016)
criteria provided, single submitter
56.
GRCh37:
ChrX:153296244
GRCh38:
ChrX:154030793
MECP2not specifiedGMAF:0.00080(C)
GO-ESP:0.00188(C)
Benign
(Jun 7, 2016)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
ChrX:153296250
GRCh38:
ChrX:154030799
MECP2not specifiedLikely benign
(Jul 14, 2016)
criteria provided, single submitter
58.
GRCh37:
ChrX:153296273
GRCh38:
ChrX:154030822
MECP2not specified, not providedConflicting interpretations of pathogenicity
(Jun 30, 2016)
criteria provided, conflicting interpretations
59.
GRCh37:
ChrX:153296295
GRCh38:
ChrX:154030844
MECP2not specifiedGMAF:0.00030(A)
GO-ESP:0.00025(A)
Benign
(Apr 3, 2015)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
ChrX:153296314
GRCh38:
ChrX:154030863
MECP2Rett syndrome, not providedConflicting interpretations of pathogenicity
(Oct 31, 2016)
criteria provided, conflicting interpretations
61.
GRCh37:
ChrX:153296347
GRCh38:
ChrX:154030896
MECP2Mental retardation, X-linked, syndromic 13, Rett syndrome, not specified
GO-ESP:0.00005(A)Conflicting interpretations of pathogenicity
(Jan 6, 2017)
criteria provided, conflicting interpretations
62.
GRCh37:
ChrX:153296354
GRCh38:
ChrX:154030903
MECP2Mental retardation, X-linked, syndromic 13, Rett syndrome, Autism, susceptibility to, X-linked 3,
not specified, not provided
Conflicting interpretations of pathogenicity
(Jul 9, 2016)
criteria provided, conflicting interpretations
63.
GRCh37:
ChrX:153296362
GRCh38:
ChrX:154030911
MECP2Rett syndrome, not providedPathogenic/Likely pathogenic
(Jul 22, 2016)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
ChrX:153296363
GRCh38:
ChrX:154030912
MECP2Angelman syndrome, Mental retardation, X-linked, syndromic 13, Rett syndrome,
not provided, Intellectual disability
Pathogenic
(Dec 5, 2016)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
ChrX:153296372
GRCh38:
ChrX:154030921
MECP2not providedLikely pathogenic
(Mar 9, 2016)
criteria provided, single submitter
66.
GRCh37:
ChrX:153296374
GRCh38:
ChrX:154030923
MECP2Rett syndrome, not providedConflicting interpretations of pathogenicity
(Nov 16, 2016)
criteria provided, conflicting interpretations
67.
GRCh37:
ChrX:153296382
GRCh38:
ChrX:154030931
MECP2not specifiedGO-ESP:0.00237(A)
GMAF:0.00080(A)
GO-ESP:0.00182(A)
Benign
(Feb 5, 2015)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
ChrX:153296399
GRCh38:
ChrX:154030948
MECP2Mental retardation, X-linked, syndromic 13, Rett syndrome, Autism, susceptibility to, X-linked 3,
not provided
Pathogenic/Likely pathogenic, risk factor
(Dec 16, 2015)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
ChrX:153296400
GRCh38:
ChrX:154030949
MECP2not specifiedUncertain significance
(Dec 6, 2016)
criteria provided, single submitter
70.
GRCh37:
ChrX:153296409
GRCh38:
ChrX:154030958
MECP2not specifiedBenign
(Jan 25, 2013)
criteria provided, single submitter
71.
GRCh37:
ChrX:153296420
GRCh38:
ChrX:154030969
MECP2Rett syndrome, not specifiedGO-ESP:0.00003(G)Conflicting interpretations of pathogenicity
(Mar 3, 2016)
criteria provided, conflicting interpretations
72.
GRCh37:
ChrX:153296436
GRCh38:
ChrX:154030985
MECP2not specifiedGMAF:0.00110(A)
GO-ESP:0.00099(A)
Benign
(Feb 5, 2015)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
ChrX:153296438
GRCh38:
ChrX:154030987
MECP2not specifiedLikely benign
(Jun 16, 2016)
criteria provided, single submitter
74.
GRCh37:
ChrX:153296439
GRCh38:
ChrX:154030988
MECP2not specified, not providedGMAF:0.00030(A)
GO-ESP:0.00024(A)
Conflicting interpretations of pathogenicity
(Jul 31, 2016)
criteria provided, conflicting interpretations
75.
GRCh37:
ChrX:153296459-153296460
GRCh38:
ChrX:154031008-154031009
MECP2not providedPathogenic
(Sep 8, 2014)
criteria provided, single submitter
76.
GRCh37:
ChrX:153296460
GRCh38:
ChrX:154031009
MECP2not providedPathogenic
(Oct 13, 2016)
criteria provided, single submitter
77.
GRCh37:
ChrX:153296464
GRCh38:
ChrX:154031013
MECP2not providedLikely pathogenic
(Dec 2, 2016)
criteria provided, single submitter
78.
GRCh37:
ChrX:153296464
GRCh38:
ChrX:154031013
MECP2not specifiedGMAF:0.00030(A)
GO-ESP:0.00007(A)
Benign/Likely benign
(May 24, 2016)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
ChrX:153296471
GRCh38:
ChrX:154031020
MECP2Severe neonatal-onset encephalopathy with microcephaly, Mental retardation, X-linked, syndromic 13, Rett syndrome,
not provided, Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome
Pathogenic
(May 27, 2016)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
ChrX:153296473
GRCh38:
ChrX:154031022
MECP2Severe neonatal-onset encephalopathy with microcephaly, Mental retardation, X-linked, syndromic 13, Rett syndrome,
not provided
Pathogenic
(Oct 25, 2016)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
ChrX:153296477
GRCh38:
ChrX:154031026
MECP2not specified, not providedGO-ESP:0.00001(A)Uncertain significance
(Dec 22, 2015)
criteria provided, single submitter
82.
GRCh37:
ChrX:153296502
GRCh38:
ChrX:154031051
MECP2Rett syndrome, not specifiedGO-ESP:0.00076(A)
GMAF:0.00080(A)
GO-ESP:0.00039(A)
Benign
(Aug 7, 2015)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
ChrX:153296516
GRCh38:
ChrX:154031065
MECP2Mental retardation, X-linked, syndromic 13, Rett syndrome, not provided
Pathogenic/Likely pathogenic
(Nov 16, 2016)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
ChrX:153296529
GRCh38:
ChrX:154031078
MECP2not specified, not providedLikely benign
(Feb 19, 2016)
criteria provided, single submitter
85.
GRCh37:
ChrX:153296562
GRCh38:
ChrX:154031111
MECP2not specifiedLikely benign
(Oct 15, 2015)
criteria provided, single submitter
86.
GRCh37:
ChrX:153296565
GRCh38:
ChrX:154031114
MECP2not specifiedGO-ESP:0.00007(T)Conflicting interpretations of pathogenicity
(Mar 19, 2015)
criteria provided, conflicting interpretations
87.
GRCh37:
ChrX:153296578
GRCh38:
ChrX:154031127
MECP2not specifiedGO-ESP:0.00011(C)Uncertain significance
(May 27, 2014)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
ChrX:153296584
GRCh38:
ChrX:154031133
MECP2not specifiedGMAF:0.00130(G)Uncertain significance
(Nov 30, 2016)
criteria provided, single submitter
89.
GRCh37:
ChrX:153296588
GRCh38:
ChrX:154031137
MECP2not specifiedUncertain significance
(May 17, 2016)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
ChrX:153296592
GRCh38:
ChrX:154031141
MECP2not specifiedUncertain significance
(Jan 12, 2017)
criteria provided, single submitter
91.
GRCh37:
ChrX:153296593
GRCh38:
ChrX:154031142
MECP2not specifiedGO-ESP:0.00015(A)Benign/Likely benign
(Dec 16, 2016)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
ChrX:153296646
GRCh38:
ChrX:154031195
MECP2not specifiedGMAF:0.00030(G)
GO-ESP:0.00009(G)
Benign/Likely benign
(Jul 7, 2016)
criteria provided, single submitter
93.
GRCh37:
ChrX:153296671
GRCh38:
ChrX:154031220
MECP2Angelman syndrome, Mental retardation, X-linked, syndromic 13, Rett syndrome,
not specified
GO-ESP:0.00038(A)
GMAF:0.00030(A)
GO-ESP:0.00065(A)
Conflicting interpretations of pathogenicity
(Jul 13, 2016)
criteria provided, conflicting interpretations
94.
GRCh37:
ChrX:153296674
GRCh38:
ChrX:154031223
MECP2not specifiedGO-ESP:0.00005(A)Likely benign
(May 4, 2016)
criteria provided, single submitter
95.
GRCh37:
ChrX:153296676
GRCh38:
ChrX:154031225
MECP2not specifiedGO-ESP:0.00003(T)Benign
(Nov 25, 2013)
criteria provided, single submitter
96.
GRCh37:
ChrX:153296677
GRCh38:
ChrX:154031226
MECP2Rett syndrome, not specified, not provided
GMAF:0.00480(A)
GO-ESP:0.00154(A)
Conflicting interpretations of pathogenicity
(Jun 17, 2016)
criteria provided, conflicting interpretations
97.
GRCh37:
ChrX:153296689
GRCh38:
ChrX:154031238
MECP2Rett syndrome, not specified, not provided
GMAF:0.00030(A)
GO-ESP:0.00055(A)
Benign/Likely benign
(Oct 2, 2015)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
ChrX:153296694
GRCh38:
ChrX:154031243
MECP2not specifiedGMAF:0.00030(A)
GO-ESP:0.00023(A)
Benign
(May 6, 2015)
criteria provided, single submitter
99.
GRCh37:
ChrX:153296697
GRCh38:
ChrX:154031246
MECP2not specifiedGO-ESP:0.00256(A)
GMAF:0.00160(A)
GO-ESP:0.00220(A)
Benign
(Dec 5, 2013)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
ChrX:153296711
GRCh38:
ChrX:154031260
MECP2not providedGO-ESP:0.00001(A)Pathogenic
(Jun 12, 2015)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center