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Items: 1 to 100 of 471

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
ChrX:53401078
GRCh38:
ChrX:53374157
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000913389
2.
GRCh37:
ChrX:53401109
GRCh38:
ChrX:53374188
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368542
3.
GRCh37:
ChrX:53401169
GRCh38:
ChrX:53374248
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000913390
4.
GRCh37:
ChrX:53401171
GRCh38:
ChrX:53374250
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000913391
5.
GRCh37:
ChrX:53401302
GRCh38:
ChrX:53374381
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000913392
6.
GRCh37:
ChrX:53401332
GRCh38:
ChrX:53374411
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000368543
7.
GRCh37:
ChrX:53401518
GRCh38:
ChrX:53374597
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000913393
8.
GRCh37:
ChrX:53401535
GRCh38:
ChrX:53374614
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000914504
9.
GRCh37:
ChrX:53401543
GRCh38:
ChrX:53374622
SMC1ACongenital muscular hypertrophy-cerebral syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000368544
10.
GRCh37:
ChrX:53401573
GRCh38:
ChrX:53374652
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000914505
11.
GRCh37:
ChrX:53401580
GRCh38:
ChrX:53374659
SMC1ACongenital muscular hypertrophy-cerebral syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000368545
12.
GRCh37:
ChrX:53401581
GRCh38:
ChrX:53374660
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000914506
13.
GRCh37:
ChrX:53401644
GRCh38:
ChrX:53374723
SMC1ADe Lange syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000368546
14.
GRCh37:
ChrX:53401669
GRCh38:
ChrX:53374748
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000368547
15.
GRCh37:
ChrX:53401672
GRCh38:
ChrX:53374751
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368548
16.
GRCh37:
ChrX:53401773
GRCh38:
ChrX:53374852
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000915024
17.
GRCh37:
ChrX:53401827
GRCh38:
ChrX:53374906
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368549
18.
GRCh37:
ChrX:53401973
GRCh38:
ChrX:53375052
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000915025
19.
GRCh37:
ChrX:53402008
GRCh38:
ChrX:53375087
SMC1ACongenital muscular hypertrophy-cerebral syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000368550
20.
GRCh37:
ChrX:53402026
GRCh38:
ChrX:53375105
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000915026
21.
GRCh37:
ChrX:53402071-53402072
GRCh38:
ChrX:53375150-53375151
SMC1ADe Lange syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000368551
22.
GRCh37:
ChrX:53402137
GRCh38:
ChrX:53375216
SMC1ACongenital muscular hypertrophy-cerebral syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000915027
23.
GRCh37:
ChrX:53402379
GRCh38:
ChrX:53375458
SMC1ADe Lange syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000368552
24.
GRCh37:
ChrX:53402443
GRCh38:
ChrX:53375522
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000368553
25.
GRCh37:
ChrX:53402581
GRCh38:
ChrX:53375660
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368554
26.
GRCh37:
ChrX:53402642
GRCh38:
ChrX:53375721
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368555
27.
GRCh37:
ChrX:53402657
GRCh38:
ChrX:53375736
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000913066
28.
GRCh37:
ChrX:53402729-53414375
GRCh38:
ChrX:53375808-53387455
SMC1ASee casesUncertain significance
(Jan 5, 2011)
no assertion criteria providedVCV000154501
29.
GRCh37:
ChrX:53402729-53414375
GRCh38:
ChrX:53375808-53387455
SMC1ASee casesUncertain significance
(Dec 22, 2010)
no assertion criteria providedVCV000154500
30.
GRCh37:
ChrX:53402868
GRCh38:
ChrX:53375947
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000913067
31.
GRCh37:
ChrX:53402937
GRCh38:
ChrX:53376016
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368556
32.
GRCh37:
ChrX:53403173
GRCh38:
ChrX:53376252
SMC1ACongenital muscular hypertrophy-cerebral syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000368557
33.
GRCh37:
ChrX:53403186
GRCh38:
ChrX:53376265
SMC1ADe Lange syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000368558
34.
GRCh37:
ChrX:53403217
GRCh38:
ChrX:53376296
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000368559
35.
GRCh37:
ChrX:53403247
GRCh38:
ChrX:53376326
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000368560
36.
GRCh37:
ChrX:53403353
GRCh38:
ChrX:53376432
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000368561
37.
GRCh37:
ChrX:53403428
GRCh38:
ChrX:53376507
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000913427
38.
GRCh37:
ChrX:53403540
GRCh38:
ChrX:53376619
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000913428
39.
GRCh37:
ChrX:53403603
GRCh38:
ChrX:53376682
SMC1ACongenital muscular hypertrophy-cerebral syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000368562
40.
GRCh37:
ChrX:53403632
GRCh38:
ChrX:53376711
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000914543
41.
GRCh37:
ChrX:53403719
GRCh38:
ChrX:53376798
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000368563
42.
GRCh37:
ChrX:53403937
GRCh38:
ChrX:53377016
SMC1ACongenital muscular hypertrophy-cerebral syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000914544
43.
GRCh37:
ChrX:53403999
GRCh38:
ChrX:53377078
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000914545
44.
GRCh37:
ChrX:53404051
GRCh38:
ChrX:53377130
SMC1ADe Lange syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000368564
45.
GRCh37:
ChrX:53404076
GRCh38:
ChrX:53377155
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368565
46.
GRCh37:
ChrX:53404088
GRCh38:
ChrX:53377167
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000914546
47.
GRCh37:
ChrX:53404168
GRCh38:
ChrX:53377247
SMC1ACongenital muscular hypertrophy-cerebral syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000368566
48.
GRCh37:
ChrX:53404361
GRCh38:
ChrX:53377440
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368567
49.
GRCh37:
ChrX:53404415
GRCh38:
ChrX:53377494
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000368568
50.
GRCh37:
ChrX:53404435
GRCh38:
ChrX:53377514
SMC1ADe Lange syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000368569
51.
GRCh37:
ChrX:53404484
GRCh38:
ChrX:53377563
SMC1ADe Lange syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000368570
52.
GRCh37:
ChrX:53404534
GRCh38:
ChrX:53377613
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368571
53.
GRCh37:
ChrX:53404589
GRCh38:
ChrX:53377668
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368572
54.
GRCh37:
ChrX:53404601
GRCh38:
ChrX:53377680
SMC1ACongenital muscular hypertrophy-cerebral syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000368573
55.
GRCh37:
ChrX:53404635
GRCh38:
ChrX:53377714
SMC1ACongenital muscular hypertrophy-cerebral syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000912344
56.
GRCh37:
ChrX:53404799
GRCh38:
ChrX:53377878
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368574
57.
GRCh37:
ChrX:53404938
GRCh38:
ChrX:53378017
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000912345
58.
GRCh37:
ChrX:53404974
GRCh38:
ChrX:53378053
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368575
59.
GRCh37:
ChrX:53405057
GRCh38:
ChrX:53378136
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000912346
60.
GRCh37:
ChrX:53405063
GRCh38:
ChrX:53378142
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368576
61.
GRCh37:
ChrX:53405090
GRCh38:
ChrX:53378169
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000913477
62.
GRCh37:
ChrX:53405110
GRCh38:
ChrX:53378189
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000913478
63.
GRCh37:
ChrX:53405465
GRCh38:
ChrX:53378544
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368577
64.
GRCh37:
ChrX:53405482
GRCh38:
ChrX:53378561
SMC1ACongenital muscular hypertrophy-cerebral syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000913479
65.
GRCh37:
ChrX:53405784
GRCh38:
ChrX:53378863
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368578
66.
GRCh37:
ChrX:53405785
GRCh38:
ChrX:53378864
SMC1ACongenital muscular hypertrophy-cerebral syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000368579
67.
GRCh37:
ChrX:53405984
GRCh38:
ChrX:53379063
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000913480
68.
GRCh37:
ChrX:53405996
GRCh38:
ChrX:53379075
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368580
69.
GRCh37:
ChrX:53406093
GRCh38:
ChrX:53379172
SMC1ACongenital muscular hypertrophy-cerebral syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000913856
70.
GRCh37:
ChrX:53406200-53406203
GRCh38:
ChrX:53379279-53379282
SMC1ADe Lange syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000368581
71.
GRCh37:
ChrX:53406321
GRCh38:
ChrX:53379400
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368582
72.
GRCh37:
ChrX:53406349
GRCh38:
ChrX:53379428
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Feb 2, 2018)
criteria provided, single submitterVCV000913857
73.
GRCh37:
ChrX:53406359
GRCh38:
ChrX:53379438
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368583
74.
GRCh37:
ChrX:53406398
GRCh38:
ChrX:53379477
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368584
75.
GRCh37:
ChrX:53406446
GRCh38:
ChrX:53379525
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000913858
76.
GRCh37:
ChrX:53406536
GRCh38:
ChrX:53379615
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000913859
77.
GRCh37:
ChrX:53406643
GRCh38:
ChrX:53379722
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368585
78.
GRCh37:
ChrX:53406676
GRCh38:
ChrX:53379755
SMC1ADe Lange syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000368586
79.
GRCh37:
ChrX:53406928
GRCh38:
ChrX:53380007
SMC1Anot provided, De Lange syndromeLikely benign
(Jul 17, 2018)
criteria provided, multiple submitters, no conflictsVCV000368587
80.
GRCh37:
ChrX:53406983
GRCh38:
ChrX:53380062
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000368588
81.
GRCh37:
ChrX:53407010
GRCh38:
ChrX:53380089
SMC1AHistory of neurodevelopmental disorder, not specified, De Lange syndrome
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000159937
82.
GRCh37:
ChrX:53407034
GRCh38:
ChrX:53380113
SMC1AN1209S, N1231SHistory of neurodevelopmental disorderUncertain significance
(May 30, 2018)
criteria provided, single submitterVCV000587912
83.
GRCh37:
ChrX:53407043
GRCh38:
ChrX:53380122
SMC1AP1206L, P1228LCongenital muscular hypertrophy-cerebral syndrome, not providedBenign
(Sep 19, 2018)
criteria provided, single submitterVCV000766690
84.
GRCh37:
ChrX:53407060
GRCh38:
ChrX:53380139
SMC1Anot providedLikely benign
(Sep 29, 2017)
criteria provided, single submitterVCV000718844
85.
GRCh37:
ChrX:53407063
GRCh38:
ChrX:53380142
SMC1ACongenital muscular hypertrophy-cerebral syndromeLikely benign
(Dec 24, 2019)
criteria provided, single submitterVCV001093228
86.
GRCh37:
ChrX:53407063-53407074
GRCh38:
ChrX:53380142-53380153
SMC1ACongenital muscular hypertrophy-cerebral syndromeLikely pathogenic
(Mar 1, 2018)
criteria provided, single submitterVCV000576172
87.
GRCh37:
ChrX:53407063
GRCh38:
ChrX:53380142
SMC1ACongenital muscular hypertrophy-cerebral syndrome, not providedLikely benign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000463886
88.
GRCh37:
ChrX:53407066
GRCh38:
ChrX:53380145
SMC1ACongenital muscular hypertrophy-cerebral syndromeLikely benign
(Jun 17, 2019)
criteria provided, single submitterVCV001154410
89.
GRCh37:
ChrX:53407070-53407071
GRCh38:
ChrX:53380149-53380150
SMC1ACongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Mar 14, 2020)
criteria provided, single submitterVCV001038681
90.
GRCh37:
ChrX:53407075
GRCh38:
ChrX:53380154
SMC1ACongenital muscular hypertrophy-cerebral syndromeLikely benign
(Apr 20, 2020)
criteria provided, single submitterVCV001108452
91.
GRCh37:
ChrX:53407088
GRCh38:
ChrX:53380167
SMC1AS1191N, S1213NHistory of neurodevelopmental disorderUncertain significance
(Sep 16, 2016)
criteria provided, single submitterVCV000588278
92.
GRCh37:
ChrX:53407531
GRCh38:
ChrX:53380610
SMC1Anot specifiedUncertain significance
(Oct 20, 2015)
criteria provided, single submitterVCV000436816
93.
GRCh37:
ChrX:53407533
GRCh38:
ChrX:53380612
SMC1ACongenital muscular hypertrophy-cerebral syndromeLikely benign
(Jul 13, 2020)
criteria provided, single submitterVCV001110199
94.
GRCh37:
ChrX:53407534
GRCh38:
ChrX:53380613
SMC1ACongenital muscular hypertrophy-cerebral syndrome, not specifiedLikely benign
(Mar 18, 2020)
criteria provided, multiple submitters, no conflictsVCV000436819
95.
GRCh37:
ChrX:53407544
GRCh38:
ChrX:53380623
SMC1Anot providedLikely benign
(Dec 13, 2018)
criteria provided, single submitterVCV000798608
96.
GRCh37:
ChrX:53407548
GRCh38:
ChrX:53380627
SMC1AY1182F, Y1204FCongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Dec 25, 2018)
criteria provided, single submitterVCV000665368
97.
GRCh37:
ChrX:53407567
GRCh38:
ChrX:53380646
SMC1AE1176K, E1198KCongenital muscular hypertrophy-cerebral syndromeConflicting interpretations of pathogenicity
(Mar 17, 2020)
criteria provided, conflicting interpretationsVCV000929455
98.
GRCh37:
ChrX:53407567
GRCh38:
ChrX:53380646
SMC1AE1176Q, E1198QCongenital muscular hypertrophy-cerebral syndromeUncertain significance
(May 19, 2017)
criteria provided, single submitterVCV000463885
99.
GRCh37:
ChrX:53407568
GRCh38:
ChrX:53380647
SMC1ACongenital muscular hypertrophy-cerebral syndromeLikely benign
(Aug 27, 2020)
criteria provided, single submitterVCV001077512
100.
GRCh37:
ChrX:53407568
GRCh38:
ChrX:53380647
SMC1ACongenital muscular hypertrophy-cerebral syndrome, not specified, not provided
Benign/Likely benign
(Dec 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000095366
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