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Items: 1 to 100 of 850

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:38639305-38639306
GRCh38:
Chr3:38597814-38597815
SCN5ALeft ventricular noncompaction cardiomyopathyLikely pathogenic
(Jun 3, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr3:38597210-38597212
GRCh38:
Chr3:38555719-38555721
SCN5ABrugada syndromeLikely pathogenic
(Nov 19, 2015)
criteria provided, single submitter
3.
GRCh37:
Chr3:38592788
GRCh38:
Chr3:38551297
SCN5ACardiac arrestUncertain significance
(May 27, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr3:38595908
GRCh38:
Chr3:38554417
SCN5ACardiomyopathyUncertain significance
(Mar 30, 2015)
criteria provided, single submitter
5.
GRCh37:
Chr3:38597172
GRCh38:
Chr3:38555681
SCN5AArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Mar 26, 2015)
criteria provided, single submitter
6.
GRCh37:
Chr3:38598754
GRCh38:
Chr3:38557263
SCN5APrimary dilated cardiomyopathyUncertain significance
(Jan 8, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr3:38601751
GRCh38:
Chr3:38560260
SCN5ABrugada syndromeLikely pathogenic
(May 13, 2015)
criteria provided, single submitter
8.
GRCh37:
Chr3:38620863
GRCh38:
Chr3:38579372
SCN5ABrugada syndromeLikely pathogenic
(Aug 31, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr3:38628928
GRCh38:
Chr3:38587437
SCN5AArrhythmogenic right ventricular cardiomyopathyGMAF:0.00020(T)Uncertain significance
(Mar 26, 2015)
criteria provided, single submitter
10.
GRCh37:
Chr3:38645422
GRCh38:
Chr3:38603931
SCN5APrimary dilated cardiomyopathyUncertain significance
(Jul 6, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr3:38647528
GRCh38:
Chr3:38606037
SCN5ASick sinus syndromeLikely pathogenic
(Aug 4, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr3:38648264
GRCh38:
Chr3:38606773
SCN5APrimary dilated cardiomyopathyUncertain significance
(Mar 16, 2015)
criteria provided, single submitter
13.
GRCh37:
Chr3:38651375
GRCh38:
Chr3:38609884
SCN5ABrugada syndromeLikely pathogenic
(Aug 5, 2015)
criteria provided, single submitter
14.
GRCh37:
Chr3:38651434
GRCh38:
Chr3:38609943
SCN5APrimary familial hypertrophic cardiomyopathyUncertain significance
(Jul 14, 2015)
criteria provided, single submitter
15.
GRCh37:
Chr3:38662386
GRCh38:
Chr3:38620895
SCN5ACardiac arrestUncertain significance
(Sep 30, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr3:38671944-38671945
GRCh38:
Chr3:38630453-38630454
SCN5ABrugada syndromeBenign
(Sep 24, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr3:38616871
GRCh38:
Chr3:38575380
SCN5ABrugada syndromeUncertain significance
(Sep 14, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr3:38592156
GRCh38:
Chr3:38550665
SCN5ABrugada syndromeUncertain significance
(Aug 14, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr3:38595811
GRCh38:
Chr3:38554320
SCN5ABrugada syndromePathogenic
(Jul 1, 2015)
criteria provided, single submitter
20.
GRCh37:
Chr3:38608073
GRCh38:
Chr3:38566582
SCN5ACardiomyopathyUncertain significancecriteria provided, single submitter
21.
GRCh37:
Chr3:38592014
GRCh38:
Chr3:38550523
SCN5ABrugada syndromeUncertain significance
(Mar 19, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr3:38603922
GRCh38:
Chr3:38562431
SCN5ABrugada syndromeUncertain significance
(Feb 10, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr3:38674805
GRCh38:
Chr3:38633314
SCN5ABrugada syndromeUncertain significance
(Mar 29, 2015)
criteria provided, single submitter
24.
GRCh37:
Chr3:38593016-38593018
GRCh38:
Chr3:38551525-38551527
SCN5ABrugada syndromePathogenic
(Jan 20, 2015)
criteria provided, single submitter
25.
GRCh37:
Chr3:38601701
GRCh38:
Chr3:38560210
SCN5ABrugada syndromePathogenic
(Jun 13, 2015)
criteria provided, single submitter
26.
GRCh37:
Chr3:38595967-38595971
GRCh38:
Chr3:38554476-38554480
SCN5Anot providedPathogenic
(Sep 4, 2014)
criteria provided, single submitter
27.
GRCh37:
Chr3:38597217
GRCh38:
Chr3:38555726
SCN5Anot providedPathogenic
(Oct 20, 2011)
criteria provided, single submitter
28.
GRCh37:
Chr3:38598777
GRCh38:
Chr3:38557286
SCN5Anot providedPathogenic
(Sep 26, 2011)
criteria provided, single submitter
29.
GRCh37:
Chr3:38627264-38627265
GRCh38:
Chr3:38585773-38585774
SCN5Anot providedPathogenic
(Nov 4, 2014)
criteria provided, single submitter
30.
GRCh37:
Chr3:38591878
GRCh38:
Chr3:38550387
SCN5Anot providedPathogenic
(Aug 6, 2011)
criteria provided, single submitter
31.
GRCh37:
Chr3:38592033
GRCh38:
Chr3:38550542
SCN5Anot providedPathogenic
(Dec 3, 2011)
criteria provided, single submitter
32.
GRCh37:
Chr3:38592255
GRCh38:
Chr3:38550764
SCN5Anot providedLikely pathogenic
(Oct 15, 2014)
criteria provided, single submitter
33.
GRCh37:
Chr3:38592405
GRCh38:
Chr3:38550914
SCN5Anot providedUncertain significance
(Feb 17, 2012)
criteria provided, single submitter
34.
GRCh37:
Chr3:38595770
GRCh38:
Chr3:38554279
SCN5Anot providedPathogenic
(Sep 2, 2011)
criteria provided, single submitter
35.
GRCh37:
Chr3:38597964
GRCh38:
Chr3:38556473
SCN5Anot providedUncertain significance
(Oct 28, 2014)
criteria provided, single submitter
36.
GRCh37:
Chr3:38598031
GRCh38:
Chr3:38556540
SCN5Anot providedLikely pathogenic
(Apr 3, 2012)
criteria provided, single submitter
37.
GRCh37:
Chr3:38598722
GRCh38:
Chr3:38557231
SCN5Anot providedPathogenic
(Feb 23, 2012)
criteria provided, single submitter
38.
GRCh37:
Chr3:38601712
GRCh38:
Chr3:38560221
SCN5Anot providedUncertain significance
(Sep 12, 2014)
criteria provided, single submitter
39.
GRCh37:
Chr3:38598716
GRCh38:
Chr3:38557225
SCN5Anot providedPathogenic
(Sep 11, 2012)
criteria provided, single submitter
40.
GRCh37:
Chr3:38607895
GRCh38:
Chr3:38566404
SCN5Anot providedPathogenic
(Dec 12, 2011)
criteria provided, single submitter
41.
GRCh37:
Chr3:38608031
GRCh38:
Chr3:38566540
SCN5Anot providedUncertain significance
(Nov 28, 2011)
criteria provided, single submitter
42.
GRCh37:
Chr3:38616879
GRCh38:
Chr3:38575388
SCN5Anot providedPathogenic
(Sep 5, 2014)
criteria provided, single submitter
43.
GRCh37:
Chr3:38618224
GRCh38:
Chr3:38576733
SCN5Anot providedUncertain significance
(Oct 19, 2011)
criteria provided, single submitter
44.
GRCh37:
Chr3:38622529
GRCh38:
Chr3:38581038
SCN5Anot providedUncertain significance
(Jul 28, 2011)
criteria provided, single submitter
45.
GRCh37:
Chr3:38627291
GRCh38:
Chr3:38585800
SCN5Anot providedPathogenic
(Jul 18, 2011)
criteria provided, single submitter
46.
GRCh37:
Chr3:38627487
GRCh38:
Chr3:38585996
SCN5Anot providedLikely pathogenic
(Jun 8, 2012)
criteria provided, single submitter
47.
GRCh37:
Chr3:38640407
GRCh38:
Chr3:38598916
SCN5Anot providedPathogenic
(Jul 11, 2011)
criteria provided, single submitter
48.
GRCh37:
Chr3:38640439
GRCh38:
Chr3:38598948
SCN5Anot providedUncertain significance
(Sep 25, 2014)
criteria provided, single submitter
49.
GRCh37:
Chr3:38640481
GRCh38:
Chr3:38598990
SCN5Anot providedUncertain significance
(Nov 7, 2011)
criteria provided, single submitter
50.
GRCh37:
Chr3:38645213
GRCh38:
Chr3:38603722
SCN5Anot providedPathogenic
(Nov 10, 2014)
criteria provided, single submitter
51.
GRCh37:
Chr3:38645388
GRCh38:
Chr3:38603897
SCN5Anot providedPathogenic
(Jan 19, 2012)
criteria provided, single submitter
52.
GRCh37:
Chr3:38648178
GRCh38:
Chr3:38606687
SCN5Anot providedPathogenic
(Aug 12, 2011)
criteria provided, single submitter
53.
GRCh37:
Chr3:38649700
GRCh38:
Chr3:38608209
SCN5ABrugada syndrome, not providedUncertain significance
(Jun 16, 2015)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr3:38592396-38592399
GRCh38:
Chr3:38550905-38550908
SCN5Anot providedPathogenic
(Jun 25, 2014)
criteria provided, single submitter
55.
GRCh37:
Chr3:38593011-38593013
GRCh38:
Chr3:38551520-38551522
SCN5ALong QT syndrome, not providedPathogenic/Likely pathogenic
(May 11, 2015)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr3:38597162-38597170
GRCh38:
Chr3:38555671-38555679
SCN5ALong QT syndrome 3, not providedPathogenic
(Aug 6, 2014)
criteria provided, single submitter
57.
GRCh37:
Chr3:38601741-38601743
GRCh38:
Chr3:38560250-38560252
SCN5Anot providedUncertain significance
(May 15, 2014)
criteria provided, single submitter
58.
GRCh37:
Chr3:38601919-38601921
GRCh38:
Chr3:38560428-38560430
SCN5Anot providedPathogenic
(Jul 16, 2012)
criteria provided, single submitter
59.
GRCh37:
Chr3:38616818-38616820
GRCh38:
Chr3:38575327-38575329
SCN5Anot providedPathogenic
(Aug 22, 2013)
criteria provided, single submitter
60.
GRCh37:
Chr3:38616936-38616937
GRCh38:
Chr3:38575445-38575446
SCN5Anot providedPathogenic
(Sep 25, 2013)
criteria provided, single submitter
61.
GRCh37:
Chr3:38618172
GRCh38:
Chr3:38576681
SCN5Anot providedPathogenic
(Dec 21, 2012)
criteria provided, single submitter
62.
GRCh37:
Chr3:38622458-38622460
GRCh38:
Chr3:38580967-38580969
SCN5Anot providedUncertain significance
(Jul 15, 2014)
criteria provided, single submitter
63.
GRCh37:
Chr3:38622497-38622508
GRCh38:
Chr3:38581006-38581017
SCN5Anot providedPathogenic
(Jan 29, 2014)
criteria provided, single submitter
64.
GRCh37:
Chr3:38592320-38592334
GRCh38:
Chr3:38550829-38550843
SCN5Anot providedUncertain significance
(Jan 16, 2013)
criteria provided, single submitter
65.
GRCh37:
Chr3:38622538
GRCh38:
Chr3:38581047
SCN5Anot providedPathogenic
(Aug 28, 2014)
criteria provided, single submitter
66.
GRCh37:
Chr3:38627386-38627387
GRCh38:
Chr3:38585895-38585896
SCN5ABrugada syndrome, not providedPathogenic
(Apr 14, 2015)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr3:38627418-38627419
GRCh38:
Chr3:38585927-38585928
SCN5ADilated cardiomyopathy 1E, not providedPathogenic
(Jun 20, 2014)
criteria provided, single submitter
68.
GRCh37:
Chr3:38627436
GRCh38:
Chr3:38585945
SCN5Anot providedPathogenic
(Oct 7, 2014)
criteria provided, single submitter
69.
GRCh37:
Chr3:38639379
GRCh38:
Chr3:38597888
SCN5Anot providedPathogenic
(Oct 6, 2014)
criteria provided, single submitter
70.
GRCh37:
Chr3:38645340
GRCh38:
Chr3:38603849
SCN5Anot providedPathogenic
(Aug 19, 2012)
criteria provided, single submitter
71.
GRCh37:
Chr3:38628984
GRCh38:
Chr3:38587493
SCN5Anot providedPathogenic
(Jan 6, 2014)
criteria provided, single submitter
72.
GRCh37:
Chr3:38645382
GRCh38:
Chr3:38603891
SCN5Anot providedPathogenic
(May 8, 2012)
criteria provided, single submitter
73.
GRCh37:
Chr3:38645509-38645510
GRCh38:
Chr3:38604018-38604019
SCN5Anot providedPathogenic
(Jul 24, 2012)
criteria provided, single submitter
74.
GRCh37:
Chr3:38646307-38646310
GRCh38:
Chr3:38604816-38604819
SCN5Anot providedPathogenic
(Aug 19, 2014)
criteria provided, single submitter
75.
GRCh37:
Chr3:38674712-38674713
GRCh38:
Chr3:38633221-38633222
SCN5Anot providedUncertain significance
(Dec 26, 2013)
criteria provided, single submitter
76.
GRCh37:
Chr3:38622687
GRCh38:
Chr3:38581196
SCN5Anot providedUncertain significance
(Jul 30, 2013)
criteria provided, single submitter
77.
GRCh37:
Chr3:38646375
GRCh38:
Chr3:38604884
SCN5Anot providedUncertain significance
(Jul 19, 2012)
criteria provided, single submitter
78.
GRCh37:
Chr3:38591817
GRCh38:
Chr3:38550326
SCN5Anot providedUncertain significance
(Feb 27, 2013)
criteria provided, single submitter
79.
GRCh37:
Chr3:38591928
GRCh38:
Chr3:38550437
SCN5Anot providedLikely pathogenic
(May 16, 2014)
criteria provided, single submitter
80.
GRCh37:
Chr3:38674742
GRCh38:
Chr3:38633251
SCN5Anot providedPathogenic
(Aug 26, 2014)
criteria provided, single submitter
81.
GRCh37:
Chr3:38591991
GRCh38:
Chr3:38550500
SCN5Anot providedPathogenic
(Jun 17, 2014)
criteria provided, single submitter
82.
GRCh37:
Chr3:38592018
GRCh38:
Chr3:38550527
SCN5Anot providedUncertain significance
(Jan 23, 2014)
criteria provided, single submitter
83.
GRCh37:
Chr3:38592123
GRCh38:
Chr3:38550632
SCN5Anot providedLikely pathogenic
(Oct 28, 2013)
criteria provided, single submitter
84.
GRCh37:
Chr3:38592205
GRCh38:
Chr3:38550714
SCN5Anot providedUncertain significance
(Apr 10, 2014)
criteria provided, single submitter
85.
GRCh37:
Chr3:38592237
GRCh38:
Chr3:38550746
SCN5Anot providedLikely pathogenic
(Oct 7, 2014)
criteria provided, single submitter
86.
GRCh37:
Chr3:38592271
GRCh38:
Chr3:38550780
SCN5Anot providedUncertain significance
(Jul 31, 2013)
criteria provided, single submitter
87.
GRCh37:
Chr3:38592317
GRCh38:
Chr3:38550826
SCN5Anot providedLikely pathogenic
(Sep 27, 2013)
criteria provided, single submitter
88.
GRCh37:
Chr3:38592381
GRCh38:
Chr3:38550890
SCN5Anot providedUncertain significance
(May 10, 2014)
criteria provided, single submitter
89.
GRCh37:
Chr3:38592428
GRCh38:
Chr3:38550937
SCN5Anot providedUncertain significance
(Oct 12, 2012)
criteria provided, single submitter
90.
GRCh37:
Chr3:38592485
GRCh38:
Chr3:38550994
SCN5Anot providedLikely pathogenic
(Dec 20, 2012)
criteria provided, single submitter
91.
GRCh37:
Chr3:38592503
GRCh38:
Chr3:38551012
SCN5Anot providedUncertain significance
(May 20, 2014)
criteria provided, single submitter
92.
GRCh37:
Chr3:38592515
GRCh38:
Chr3:38551024
SCN5Anot providedUncertain significance
(Jan 13, 2014)
criteria provided, single submitter
93.
GRCh37:
Chr3:38592566
GRCh38:
Chr3:38551075
SCN5Anot providedPathogenic
(Aug 22, 2014)
criteria provided, single submitter
94.
GRCh37:
Chr3:38592632
GRCh38:
Chr3:38551141
SCN5Anot providedLikely pathogenic
(Jun 3, 2014)
criteria provided, single submitter
95.
GRCh37:
Chr3:38592642
GRCh38:
Chr3:38551151
SCN5Anot providedUncertain significance
(Jun 10, 2014)
criteria provided, single submitter
96.
GRCh37:
Chr3:38592678
GRCh38:
Chr3:38551187
SCN5Anot providedLikely pathogenic
(May 17, 2014)
criteria provided, single submitter
97.
GRCh37:
Chr3:38592719
GRCh38:
Chr3:38551228
SCN5Anot providedUncertain significance
(Mar 6, 2013)
criteria provided, single submitter
98.
GRCh37:
Chr3:38592723
GRCh38:
Chr3:38551232
SCN5Anot providedLikely pathogenic
(Oct 10, 2013)
criteria provided, single submitter
99.
GRCh37:
Chr3:38592755
GRCh38:
Chr3:38551264
SCN5Anot providedLikely pathogenic
(Dec 3, 2012)
criteria provided, single submitter
100.
GRCh37:
Chr3:38592791
GRCh38:
Chr3:38551300
SCN5Anot providedLikely pathogenic
(Sep 19, 2014)
criteria provided, single submitter
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