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Items: 1 to 100 of 192

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr10:18807881
GRCh38:
Chr10:18518952
CACNB2, NSUN6H256D, H310Dnot providedUncertain significance
(Aug 18, 2017)
criteria provided, single submitterVCV000618001
2.
GRCh37:
Chr10:18828583
GRCh38:
Chr10:18539654
CACNB2, NSUN6D584G, D638GBrugada syndrome 4Uncertain significance
(Feb 13, 2018)
criteria provided, single submitterVCV000578881
3.
GRCh37:
Chr10:18828351
GRCh38:
Chr10:18539422
NSUN6, CACNB2E507K, E561KBrugada syndrome 4Uncertain significance
(May 10, 2018)
criteria provided, single submitterVCV000575677
4.
GRCh37:
Chr10:18823074
GRCh38:
Chr10:18534145
CACNB2, NSUN6A375V, A321VBrugada syndrome 4Uncertain significance
(Apr 23, 2018)
criteria provided, single submitterVCV000575601
5.
GRCh37:
Chr10:18825030
GRCh38:
Chr10:18536101
CACNB2, NSUN6V349I, V403IBrugada syndrome 4Uncertain significance
(Jan 26, 2018)
criteria provided, single submitterVCV000575314
6.
GRCh37:
Chr10:18803180
GRCh38:
Chr10:18514251
NSUN6, CACNB2A229D, A175DBrugada syndrome 4Uncertain significance
(Mar 12, 2018)
criteria provided, single submitterVCV000574234
7.
GRCh37:
Chr10:18816590
GRCh38:
Chr10:18527661
CACNB2, NSUN6A286T, A340TBrugada syndrome 4Uncertain significance
(Apr 13, 2018)
criteria provided, single submitterVCV000573799
8.
GRCh37:
Chr10:18827239
GRCh38:
Chr10:18538310
CACNB2, NSUN6R424H, R478HBrugada syndromeUncertain significance
(Jun 28, 2017)
no assertion criteria providedVCV000560634
9.
GRCh37:
Chr10:18828209
GRCh38:
Chr10:18539280
CACNB2, NSUN6Brugada syndrome 4Likely benign
(Nov 10, 2017)
criteria provided, single submitterVCV000537382
10.
GRCh37:
Chr10:18827195
GRCh38:
Chr10:18538266
CACNB2, NSUN6Brugada syndrome 4Likely benign
(Oct 26, 2017)
criteria provided, single submitterVCV000537381
11.
GRCh37:
Chr10:18828584
GRCh38:
Chr10:18539655
CACNB2, NSUN6Brugada syndrome 4Likely benign
(Oct 18, 2017)
criteria provided, single submitterVCV000537380
12.
GRCh37:
Chr10:18816589
GRCh38:
Chr10:18527660
CACNB2, NSUN6Brugada syndrome 4Likely benign
(Aug 28, 2017)
criteria provided, single submitterVCV000537379
13.
GRCh37:
Chr10:18827300
GRCh38:
Chr10:18538371
CACNB2, NSUN6Brugada syndrome 4Uncertain significance
(Dec 14, 2017)
criteria provided, single submitterVCV000537376
14.
GRCh37:
Chr10:18807865
GRCh38:
Chr10:18518936
CACNB2, NSUN6Brugada syndrome 4Likely benign
(Aug 29, 2017)
criteria provided, single submitterVCV000537375
15.
GRCh37:
Chr10:18828544
GRCh38:
Chr10:18539615
CACNB2, NSUN6R625H, R571HBrugada syndrome 4Uncertain significance
(Jan 4, 2018)
criteria provided, single submitterVCV000537374
16.
GRCh37:
Chr10:18816539
GRCh38:
Chr10:18527610
CACNB2, NSUN6A323T, A269TBrugada syndrome 4Uncertain significance
(May 25, 2018)
criteria provided, single submitterVCV000537373
17.
GRCh37:
Chr10:18828417
GRCh38:
Chr10:18539488
CACNB2, NSUN6A583P, A529PBrugada syndrome 4Uncertain significance
(Sep 25, 2017)
criteria provided, single submitterVCV000537372
18.
GRCh37:
Chr10:18828294
GRCh38:
Chr10:18539365
NSUN6, CACNB2R488C, R542CBrugada syndrome 4Uncertain significance
(Aug 14, 2017)
criteria provided, single submitterVCV000537370
19.
GRCh37:
Chr10:18803204
GRCh38:
Chr10:18514275
CACNB2, NSUN6N183T, N237TBrugada syndrome 4Uncertain significance
(Oct 4, 2017)
criteria provided, single submitterVCV000537369
20.
GRCh37:
Chr10:18828309
GRCh38:
Chr10:18539380
CACNB2, NSUN6R493C, R547CBrugada syndrome 4, not providedUncertain significance
(Sep 28, 2017)
criteria provided, single submitterVCV000537368
21.
GRCh37:
Chr10:18828492
GRCh38:
Chr10:18539563
CACNB2, NSUN6R554C, R608CBrugada syndrome 4Uncertain significance
(Mar 2, 2018)
criteria provided, single submitterVCV000537367
22.
GRCh37:
Chr10:18816566
GRCh38:
Chr10:18527637
CACNB2, NSUN6V278L, V332LBrugada syndrome 4Uncertain significance
(Dec 20, 2017)
criteria provided, single submitterVCV000537365
23.
GRCh37:
Chr10:18823005
GRCh38:
Chr10:18534076
CACNB2, NSUN6A298V, A352VBrugada syndrome 4Uncertain significance
(Oct 6, 2017)
criteria provided, single submitterVCV000537364
24.
GRCh37:
Chr10:18828671
GRCh38:
Chr10:18539742
CACNB2, NSUN6Brugada syndrome 4Benign
(Dec 13, 2016)
criteria provided, single submitterVCV000522256
25.
GRCh37:
Chr10:18825095
GRCh38:
Chr10:18536166
CACNB2, NSUN6Cardiovascular phenotypeLikely benign
(Sep 17, 2017)
criteria provided, single submitterVCV000519517
26.
GRCh37:
Chr10:18828372
GRCh38:
Chr10:18539443
CACNB2, NSUN6V514L, V568LCardiovascular phenotypeUncertain significance
(Sep 12, 2017)
criteria provided, single submitterVCV000519506
27.
GRCh37:
Chr10:18828580
GRCh38:
Chr10:18539651
CACNB2, NSUN6Cardiovascular phenotypeUncertain significance
(Sep 6, 2017)
criteria provided, single submitterVCV000519502
28.
GRCh37:
Chr10:18828607
GRCh38:
Chr10:18539678
CACNB2, NSUN6R592Q, R646QCardiovascular phenotypeUncertain significance
(Jun 24, 2017)
criteria provided, single submitterVCV000519466
29.
GRCh37:
Chr10:18823104
GRCh38:
Chr10:18534175
CACNB2, NSUN6S331N, S385NCardiovascular phenotypeUncertain significance
(Mar 22, 2017)
criteria provided, single submitterVCV000519413
30.
GRCh37:
Chr10:18807281
GRCh38:
Chr10:18518352
CACNB2, NSUN6P220L, P274LCardiovascular phenotypeUncertain significance
(Feb 10, 2017)
criteria provided, single submitterVCV000519389
31.
GRCh37:
Chr10:18828179
GRCh38:
Chr10:18539250
CACNB2, NSUN6R449S, R503SCardiovascular phenotypeUncertain significance
(Aug 29, 2016)
criteria provided, single submitterVCV000519324
32.
GRCh37:
Chr10:18807278
GRCh38:
Chr10:18518349
CACNB2, NSUN6P219L, P273LCardiovascular phenotypeUncertain significance
(Jan 13, 2016)
criteria provided, single submitterVCV000519218
33.
GRCh37:
Chr10:18825125
GRCh38:
Chr10:18536196
CACNB2, NSUN6not specifiedLikely benign
(Sep 12, 2017)
criteria provided, single submitterVCV000512010
34.
GRCh37:
Chr10:18807909
GRCh38:
Chr10:18518980
CACNB2, NSUN6not specifiedLikely benign
(Aug 23, 2017)
criteria provided, single submitterVCV000511662
35.
GRCh37:
Chr10:18828320
GRCh38:
Chr10:18539391
CACNB2, NSUN6not specifiedLikely benign
(May 10, 2017)
criteria provided, single submitterVCV000509496
36.
GRCh37:
Chr10:18803465
GRCh38:
Chr10:18514536
CACNB2, NSUN6not specifiedLikely benign
(Jul 12, 2017)
criteria provided, single submitterVCV000506331
37.
GRCh37:
Chr10:18807262
GRCh38:
Chr10:18518333
CACNB2, NSUN6Brugada syndrome 4Uncertain significance
(Dec 19, 2017)
criteria provided, single submitterVCV000469646
38.
GRCh37:
Chr10:18828595
GRCh38:
Chr10:18539666
CACNB2, NSUN6I588T, I642TBrugada syndrome 4Uncertain significance
(May 16, 2017)
criteria provided, single submitterVCV000469643
39.
GRCh37:
Chr10:18828568
GRCh38:
Chr10:18539639
CACNB2, NSUN6R579H, R633HBrugada syndrome 4Uncertain significance
(Jul 11, 2017)
criteria provided, single submitterVCV000469642
40.
GRCh37:
Chr10:18828528
GRCh38:
Chr10:18539599
CACNB2, NSUN6E566K, E620KBrugada syndrome 4Uncertain significance
(Feb 24, 2017)
criteria provided, single submitterVCV000469640
41.
GRCh37:
Chr10:18828358
GRCh38:
Chr10:18539429
CACNB2, NSUN6R509Q, R563QBrugada syndrome 4Likely benign
(Jun 28, 2017)
criteria provided, single submitterVCV000469639
42.
GRCh37:
Chr10:18825099
GRCh38:
Chr10:18536170
CACNB2, NSUN6A372T, A426TPrimary dilated cardiomyopathyUncertain significance
(Apr 30, 2017)
criteria provided, single submitterVCV000427977
43.
GRCh37:
Chr10:18825121
GRCh38:
Chr10:18536192
CACNB2, NSUN6P379R, P433Rnot providedUncertain significance
(Feb 27, 2017)
criteria provided, single submitterVCV000423732
44.
GRCh37:
Chr10:18825140-18825143
GRCh38:
Chr10:18536211-18536214
CACNB2, NSUN6not specifiedLikely benign
(Aug 10, 2016)
criteria provided, single submitterVCV000421844
45.
GRCh37:
Chr10:18828495
GRCh38:
Chr10:18539566
CACNB2, NSUN6S555T, S609Tnot providedUncertain significance
(Jul 1, 2016)
criteria provided, single submitterVCV000421577
46.
GRCh37:
Chr10:18825054
GRCh38:
Chr10:18536125
CACNB2, NSUN6R357G, R411Gnot providedUncertain significance
(Jun 21, 2016)
criteria provided, single submitterVCV000421510
47.
GRCh37:
Chr10:18828561
GRCh38:
Chr10:18539632
CACNB2, NSUN6K577E, K631Enot providedUncertain significance
(Jan 21, 2016)
criteria provided, single submitterVCV000420386
48.
GRCh37:
Chr10:18828250
GRCh38:
Chr10:18539321
CACNB2, NSUN6K473T, K527Tnot providedUncertain significance
(Jan 15, 2016)
criteria provided, single submitterVCV000420365
49.
GRCh37:
Chr10:18827307-18827327
GRCh38:
Chr10:18538378-18538398
CACNB2, NSUN6not specifiedLikely benign
(Jul 25, 2016)
criteria provided, single submitterVCV000418963
50.
GRCh37:
Chr10:18828378
GRCh38:
Chr10:18539449
CACNB2, NSUN6P516A, P570Anot specifiedUncertain significance
(Feb 28, 2017)
criteria provided, single submitterVCV000418636
51.
GRCh37:
Chr10:18828358
GRCh38:
Chr10:18539429
CACNB2, NSUN6R509P, R563Pnot providedUncertain significance
(Feb 17, 2017)
criteria provided, single submitterVCV000418104
52.
GRCh37:
Chr10:18828498
GRCh38:
Chr10:18539569
CACNB2, NSUN6R556W, R610WCardiovascular phenotype, not provided, Brugada syndrome 4
Uncertain significance
(Nov 21, 2015)
criteria provided, multiple submitters, no conflictsVCV000417912
53.
GRCh37:
Chr10:18828605
GRCh38:
Chr10:18539676
CACNB2, NSUN6Cardiovascular phenotype, not specified, Brugada syndrome 4
Likely benign
(May 22, 2016)
criteria provided, multiple submitters, no conflictsVCV000416845
54.
GRCh37:
Chr10:18827270
GRCh38:
Chr10:18538341
CACNB2, NSUN6Brugada syndrome 4Likely benign
(Dec 19, 2017)
criteria provided, single submitterVCV000416843
55.
GRCh37:
Chr10:18828503
GRCh38:
Chr10:18539574
CACNB2, NSUN6Brugada syndrome 4Likely benign
(Sep 26, 2016)
criteria provided, single submitterVCV000416841
56.
GRCh37:
Chr10:18828467
GRCh38:
Chr10:18539538
CACNB2, NSUN6Brugada syndrome 4Likely benign
(Aug 31, 2016)
criteria provided, single submitterVCV000416840
57.
GRCh37:
Chr10:18825116
GRCh38:
Chr10:18536187
CACNB2, NSUN6Brugada syndrome 4Benign
(Dec 14, 2017)
criteria provided, single submitterVCV000416839
58.
GRCh37:
Chr10:18828446
GRCh38:
Chr10:18539517
CACNB2, NSUN6Brugada syndrome 4Likely benign
(Aug 30, 2016)
criteria provided, single submitterVCV000416838
59.
GRCh37:
Chr10:18828521-18828529
GRCh38:
Chr10:18539592-18539600
CACNB2, NSUN6Brugada syndrome 4Uncertain significance
(Jul 31, 2016)
criteria provided, single submitterVCV000411705
60.
GRCh37:
Chr10:18823026
GRCh38:
Chr10:18534097
CACNB2, NSUN6E359G, E305GBrugada syndrome 4Uncertain significance
(Apr 23, 2016)
criteria provided, single submitterVCV000411704
61.
GRCh37:
Chr10:18816597
GRCh38:
Chr10:18527668
CACNB2, NSUN6I342T, I288TBrugada syndrome 4Uncertain significance
(Aug 24, 2016)
criteria provided, single submitterVCV000411701
62.
GRCh37:
Chr10:18828202
GRCh38:
Chr10:18539273
CACNB2, NSUN6R511H, R457HBrugada syndrome 4Uncertain significance
(Oct 25, 2016)
criteria provided, single submitterVCV000411700
63.
GRCh37:
Chr10:18828204
GRCh38:
Chr10:18539275
CACNB2, NSUN6not specifiedUncertain significance
(Mar 1, 2017)
criteria provided, single submitterVCV000402478
64.
GRCh37:
Chr10:18828543
GRCh38:
Chr10:18539614
CACNB2, NSUN6R571C, R625Cnot specifiedUncertain significance
(Aug 12, 2016)
criteria provided, single submitterVCV000402475
65.
GRCh37:
Chr10:18827163
GRCh38:
Chr10:18538234
CACNB2, NSUN6L399F, L453Fnot specified, Brugada syndrome 4Uncertain significance
(Jun 23, 2016)
criteria provided, multiple submitters, no conflictsVCV000402474
66.
GRCh37:
Chr10:18803444
GRCh38:
Chr10:18514515
CACNB2, NSUN6K197Nnot specifiedUncertain significance
(Jun 23, 2016)
criteria provided, single submitterVCV000402473
67.
GRCh37:
Chr10:18807909
GRCh38:
Chr10:18518980
CACNB2, NSUN6not specifiedLikely benign
(Dec 27, 2016)
criteria provided, single submitterVCV000392039
68.
GRCh37:
Chr10:18828151
GRCh38:
Chr10:18539222
CACNB2, NSUN6not specifiedLikely benign
(Nov 7, 2016)
criteria provided, single submitterVCV000390651
69.
GRCh37:
Chr10:18828147
GRCh38:
Chr10:18539218
CACNB2, NSUN6not specifiedLikely benign
(Oct 14, 2016)
criteria provided, single submitterVCV000390022
70.
GRCh37:
Chr10:18803421
GRCh38:
Chr10:18514492
CACNB2, NSUN6not specifiedLikely benign
(Sep 15, 2016)
criteria provided, single submitterVCV000389261
71.
GRCh37:
Chr10:18803899
GRCh38:
Chr10:18514970
CACNB2, NSUN6not specifiedLikely benign
(Jul 25, 2016)
criteria provided, single submitterVCV000387945
72.
GRCh37:
Chr10:18803474
GRCh38:
Chr10:18514545
CACNB2, NSUN6not specifiedLikely benign
(Apr 25, 2016)
criteria provided, single submitterVCV000385735
73.
GRCh37:
Chr10:18827302
GRCh38:
Chr10:18538373
CACNB2, NSUN6not specifiedLikely benign
(Feb 12, 2018)
criteria provided, single submitterVCV000385195
74.
GRCh37:
Chr10:18827105
GRCh38:
Chr10:18538176
CACNB2, NSUN6Cardiovascular phenotype, not specifiedConflicting interpretations of pathogenicity
(Nov 11, 2015)
criteria provided, conflicting interpretationsVCV000381323
75.
GRCh37:
Chr10:18828663
GRCh38:
Chr10:18539734
CACNB2, NSUN6not specifiedLikely benign
(Feb 16, 2016)
criteria provided, single submitterVCV000379618
76.
GRCh37:
Chr10:18828663
GRCh38:
Chr10:18539734
NSUN6, CACNB2not specifiedLikely benign
(Dec 21, 2015)
criteria provided, single submitterVCV000378896
77.
GRCh37:
Chr10:18828261
GRCh38:
Chr10:18539332
CACNB2, NSUN6R476C, R477C, R531CCardiovascular phenotype, not provided, Brugada syndrome,
Brugada syndrome 4
Conflicting interpretations of pathogenicity
(Oct 1, 2016)
criteria provided, conflicting interpretationsVCV000375853
78.
GRCh37:
Chr10:18830669
GRCh38:
Chr10:18541740
CACNB2, NSUN6Brugada syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000299620
79.
GRCh37:
Chr10:18830660
GRCh38:
Chr10:18541731
NSUN6, CACNB2Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299619
80.
GRCh37:
Chr10:18830618
GRCh38:
Chr10:18541689
CACNB2, NSUN6Brugada syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000299618
81.
GRCh37:
Chr10:18830376
GRCh38:
Chr10:18541447
NSUN6, CACNB2Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299617
82.
GRCh37:
Chr10:18830318
GRCh38:
Chr10:18541389
CACNB2, NSUN6Brugada syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000299616
83.
GRCh37:
Chr10:18830272
GRCh38:
Chr10:18541343
CACNB2, NSUN6Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299615
84.
GRCh37:
Chr10:18830264
GRCh38:
Chr10:18541335
CACNB2, NSUN6Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299614
85.
GRCh37:
Chr10:18830241
GRCh38:
Chr10:18541312
CACNB2, NSUN6Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299613
86.
GRCh37:
Chr10:18830218
GRCh38:
Chr10:18541289
CACNB2, NSUN6Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299612
87.
GRCh37:
Chr10:18829983-18829986
GRCh38:
Chr10:18541054-18541057
CACNB2, NSUN6Brugada syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000299611
88.
GRCh37:
Chr10:18829895
GRCh38:
Chr10:18540966
CACNB2, NSUN6Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299610
89.
GRCh37:
Chr10:18829882
GRCh38:
Chr10:18540953
CACNB2, NSUN6Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299609
90.
GRCh37:
Chr10:18829763
GRCh38:
Chr10:18540834
CACNB2, NSUN6Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299608
91.
GRCh37:
Chr10:18829648
GRCh38:
Chr10:18540719
CACNB2, NSUN6Brugada syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000299607
92.
GRCh37:
Chr10:18829629
GRCh38:
Chr10:18540700
CACNB2, NSUN6Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299606
93.
GRCh37:
Chr10:18829566
GRCh38:
Chr10:18540637
NSUN6, CACNB2Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299605
94.
GRCh37:
Chr10:18829518
GRCh38:
Chr10:18540589
CACNB2, NSUN6Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299604
95.
GRCh37:
Chr10:18829492-18829495
GRCh38:
Chr10:18540563-18540566
CACNB2, NSUN6Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299603
96.
GRCh37:
Chr10:18829448-18829452
GRCh38:
Chr10:18540519-18540523
CACNB2, NSUN6Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299602
97.
GRCh37:
Chr10:18829439-18829442
GRCh38:
Chr10:18540510-18540513
CACNB2, NSUN6Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299601
98.
GRCh37:
Chr10:18829411-18829414
GRCh38:
Chr10:18540482-18540485
NSUN6, CACNB2Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299600
99.
GRCh37:
Chr10:18829347
GRCh38:
Chr10:18540418
CACNB2, NSUN6Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299599
100.
GRCh37:
Chr10:18829300
GRCh38:
Chr10:18540371
CACNB2, NSUN6Brugada syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299598
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