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Items: 1 to 100 of 443

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:18429668
GRCh38:
Chr10:18140739
CACNB2M1IBrugada syndrome 4Uncertain significancecriteria provided, single submitter
2.
GRCh37:
Chr10:18803962
GRCh38:
Chr10:18515033
CACNB2R214W, R242WBrugada syndrome 4Uncertain significance
(Oct 13, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr10:18807245-18828653
CACNB2Brugada syndrome 4Uncertain significance
(Oct 25, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr10:18629856-18629926
CACNB2Brugada syndrome 4Uncertain significance
(Oct 7, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr10:18823052
GRCh38:
Chr10:18534123
CACNB2Brugada syndrome 4Likely benign
(Jun 2, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr10:18827274
GRCh38:
Chr10:18538345
CACNB2T397A, T404A, T424A, T435A, T436A, T438A, T442A, T452A, T462A, T466A, T490ABrugada syndrome 4Uncertain significance
(Aug 12, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr10:18828159
GRCh38:
Chr10:18539230
CACNB2G404S, G445S, G473S, G442S, G497S, G411S, G431S, G469S, G443S, G449S, G459SBrugada syndrome 4Uncertain significance
(Dec 17, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr10:18629881
GRCh38:
Chr10:18340952
CACNB2P9LBrugada syndrome 4Uncertain significance
(Oct 8, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr10:18828162
GRCh38:
Chr10:18539233
CACNB2S444A, S498A, S446A, S474A, S405A, S432A, S470A, S450A, S443A, S460ABrugada syndrome 4Uncertain significance
(Apr 15, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr10:18787416
GRCh38:
Chr10:18498487
CACNB2Brugada syndrome 4Likely benign
(Jul 19, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr10:18828629-18828630
GRCh38:
Chr10:18539700-18539701
CACNB2Y564*, Y603*, Y629*, Y633*, Y657*, Y591*, Y605*, Y609*, Y602*, Y619*Cardiovascular phenotype, Brugada syndrome 4Uncertain significance
(Jun 23, 2023)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr10:18807856
GRCh38:
Chr10:18518927
CACNB2Brugada syndrome 4Likely benign
(Apr 25, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr10:18828632
GRCh38:
Chr10:18539703
CACNB2Brugada syndrome 4Likely benign
(May 9, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr10:18828327
GRCh38:
Chr10:18539398
CACNB2E460Q, E501Q, E529Q, E487Q, E553Q, E498Q, E505Q, E515Q, E525Q, E467Q, E499QBrugada syndrome 4Uncertain significance
(Sep 18, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr10:18822995
GRCh38:
Chr10:18534066
CACNB2Brugada syndrome 4Likely benign
(Mar 27, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr10:18803159
GRCh38:
Chr10:18514230
CACNB2Brugada syndrome 4Likely benign
(May 18, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr10:18789851
GRCh38:
Chr10:18500922
CACNB2Brugada syndrome 4Likely benign
(Mar 4, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr10:18828634
GRCh38:
Chr10:18539705
CACNB2D600V, D562V, D569V, D589V, D603V, D627V, D607V, D655V, D601V, D617V, D631VBrugada syndrome 4Uncertain significance
(Mar 14, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr10:18827183
GRCh38:
Chr10:18538254
CACNB2Brugada syndrome 4Likely benign
(Dec 27, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr10:18795484
GRCh38:
Chr10:18506555
CACNB2Brugada syndrome 4Likely benign
(May 2, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr10:18789751
GRCh38:
Chr10:18500822
CACNB2N102S, N156S, N101S, N108S, N128SBrugada syndrome 4Uncertain significance
(Jul 25, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr10:18789869
GRCh38:
Chr10:18500940
CACNB2F167L, F147L, F141L, F140L, F195LBrugada syndrome 4Uncertain significance
(Sep 17, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr10:18823147
GRCh38:
Chr10:18534218
CACNB2Brugada syndrome 4Likely benign
(Feb 6, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr10:18807250
GRCh38:
Chr10:18518321
CACNB2Brugada syndrome 4Likely benign
(Jan 11, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr10:18789808
GRCh38:
Chr10:18500879
CACNB2S121N, S127N, S120N, S147N, S175NBrugada syndrome 4Uncertain significance
(Aug 20, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr10:18822989
GRCh38:
Chr10:18534060
CACNB2Brugada syndrome 4Likely benign
(Jul 15, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr10:18828414
GRCh38:
Chr10:18539485
CACNB2Y489H, Y530H, Y534H, Y582H, Y527H, Y554H, Y558H, Y496H, Y516H, Y528H, Y544HBrugada syndrome 4Uncertain significance
(Mar 3, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr10:18690992
GRCh38:
Chr10:18402063
CACNB2Brugada syndrome 4Likely benign
(Dec 18, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr10:18828523-18828525
GRCh38:
Chr10:18539594-18539596
CACNB2N526del, N567del, N595del, N571del, N533del, N564del, N565del, N591del, N553del, N581del, N619delCACNB2-related condition, Brugada syndrome 4Uncertain significance
(Aug 31, 2023)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr10:18823153
GRCh38:
Chr10:18534224
CACNB2Brugada syndrome 4Likely benign
(Dec 24, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr10:18828595-18828596
GRCh38:
Chr10:18539666-18539667
CACNB2Brugada syndrome 4Uncertain significance
(Jun 10, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr10:18629906
GRCh38:
Chr10:18340977
CACNB2Brugada syndrome 4Uncertain significance
(Apr 18, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr10:18828173
GRCh38:
Chr10:18539244
CACNB2Brugada syndrome 4Likely benign
(Apr 20, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr10:18828437
GRCh38:
Chr10:18539508
CACNB2N496K, N551K, N565K, N523K, N534K, N503K, N535K, N537K, N541K, N561K, N589KInborn genetic diseases, Brugada syndrome 4Uncertain significance
(Aug 14, 2023)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr10:18827280
GRCh38:
Chr10:18538351
CACNB2A399P, A426P, A444P, A406P, A468P, A492P, A438P, A437P, A440P, A454P, A464PBrugada syndrome 4Uncertain significance
(Mar 9, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr10:18823013
GRCh38:
Chr10:18534084
CACNB2Q301*, Q303*, Q317*, Q269*, Q331*, Q355*, Q300*, Q307*, Q327*, Q262*, Q289*Brugada syndrome 4Uncertain significance
(Jun 1, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr10:18807259
GRCh38:
Chr10:18518330
CACNB2Brugada syndrome 4Likely benign
(Mar 5, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr10:18823081
GRCh38:
Chr10:18534152
CACNB2Brugada syndrome 4Likely benign
(May 15, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr10:18795400
GRCh38:
Chr10:18506471
CACNB2S198R, S143R, S144R, S150R, S170RBrugada syndrome 4Uncertain significance
(Jun 7, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr10:18807355
GRCh38:
Chr10:18518426
CACNB2Brugada syndrome 4Likely benign
(Feb 20, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr10:18787305
GRCh38:
Chr10:18498376
CACNB2V119L, V65L, V64L, V71L, V91LBrugada syndrome 4Uncertain significance
(Jan 3, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr10:18828329
GRCh38:
Chr10:18539400
CACNB2E487D, E525D, E460D, E498D, E499D, E505D, E515D, E529D, E553D, E467D, E501DBrugada syndrome 4Uncertain significance
(Oct 14, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr10:18789771
GRCh38:
Chr10:18500842
CACNB2Brugada syndrome 4Likely benign
(Dec 21, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr10:18789854
GRCh38:
Chr10:18500925
CACNB2Brugada syndrome 4, Cardiovascular phenotypeLikely benign
(Feb 3, 2023)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr10:18823110
GRCh38:
Chr10:18534181
CACNB2T294I, T301I, T332I, T333I, T363I, T321I, T339I, T349I, T387I, T335I, T359IBrugada syndrome 4Uncertain significance
(Feb 5, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr10:18827311
GRCh38:
Chr10:18538382
CACNB2Brugada syndrome 4Likely benign
(Oct 22, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr10:18828646
GRCh38:
Chr10:18539717
CACNB2R611H, R635H, R604H, R659H, R573H, R631H, R566H, R593H, R605H, R607H, R621HBrugada syndrome 4Uncertain significance
(May 26, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr10:18807316
GRCh38:
Chr10:18518387
CACNB2L220V, L238V, L248V, L286V, L193V, L200V, L234V, L232V, L262V, L231V, L258VInborn genetic diseases, Brugada syndrome 4Uncertain significance
(Jul 27, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr10:18629863
GRCh38:
Chr10:18340934
CACNB2D3GBrugada syndrome 4, Cardiovascular phenotypeUncertain significance
(Aug 8, 2023)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr10:18828395-18828424
GRCh38:
Chr10:18539466-18539495
CACNB2Brugada syndrome 4Uncertain significance
(Oct 16, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr10:18827240
GRCh38:
Chr10:18538311
CACNB2Brugada syndrome 4Likely benign
(Aug 9, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr10:18825120-18825121
GRCh38:
Chr10:18536191-18536192
CACNB2P378V, P395V, P409V, P340V, P379V, P433V, P347V, P381V, P385V, P367V, P405VBrugada syndrome 4Uncertain significance
(Jun 27, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr10:18803206
GRCh38:
Chr10:18514277
CACNB2D238N, D184N, D210N, D183N, D190NBrugada syndrome 4Uncertain significance
(Jun 23, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr10:18823078
GRCh38:
Chr10:18534149
CACNB2Brugada syndrome 4Likely benign
(Sep 15, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr10:18828353
GRCh38:
Chr10:18539424
CACNB2E475D, E468D, E507D, E523D, E561D, E537D, E495D, E506D, E509D, E513D, E533DBrugada syndrome 4Uncertain significance
(Feb 24, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr10:18828487
GRCh38:
Chr10:18539558
CACNB2R568Q, R606Q, R513Q, R520Q, R551Q, R540Q, R554Q, R558Q, R578Q, R552Q, R582QBrugada syndrome 4Uncertain significance
(Jan 20, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr10:18828447
GRCh38:
Chr10:18539518
CACNB2E538K, E539K, E541K, E545K, E565K, E507K, E527K, E555K, E500K, E569K, E593KBrugada syndrome 4Uncertain significance
(Jun 23, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr10:18827285
GRCh38:
Chr10:18538356
CACNB2Brugada syndrome 4Likely benign
(Oct 3, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr10:18827118
GRCh38:
Chr10:18538189
CACNB2D372H, D386H, D400H, D414H, D352H, D384H, D390H, D345H, D383H, D410H, D438HBrugada syndrome 4Uncertain significance
(Apr 1, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr10:18828215
GRCh38:
Chr10:18539286
CACNB2Brugada syndrome 4Uncertain significance
(Aug 13, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr10:18823132
GRCh38:
Chr10:18534203
CACNB2Brugada syndrome 4Uncertain significance
(Jan 16, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr10:18828452
GRCh38:
Chr10:18539523
CACNB2Brugada syndrome 4Likely benign
(May 18, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr10:18822985
GRCh38:
Chr10:18534056
CACNB2Brugada syndrome 4Likely benign
(Jul 26, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr10:18823127
GRCh38:
Chr10:18534198
CACNB2I327V, I338V, I341V, I300V, I339V, I355V, I365V, I369V, I307V, I345V, I393VBrugada syndrome 4Uncertain significance
(Jul 12, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr10:18827177
GRCh38:
Chr10:18538248
CACNB2Brugada syndrome 4Uncertain significance
(Dec 21, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr10:18795447
GRCh38:
Chr10:18506518
CACNB2S166N, S160N, S159N, S186N, S214NBrugada syndrome 4Uncertain significance
(Dec 24, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr10:18629880
GRCh38:
Chr10:18340951
CACNB2P9ACardiovascular phenotype, Brugada syndrome 4Uncertain significance
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr10:18828493
GRCh38:
Chr10:18539564
CACNB2R554L, R515L, R522L, R542L, R560L, R570L, R553L, R580L, R556L, R584L, R608LBrugada syndrome 4, Cardiovascular phenotypeUncertain significance
(May 24, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr10:18828229
GRCh38:
Chr10:18539300
CACNB2P472L, P496L, P465L, P466L, P520L, P454L, P492L, P427L, P434L, P468L, P482LBrugada syndrome 4, Cardiovascular phenotypeUncertain significance
(Sep 4, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr10:18823075
GRCh38:
Chr10:18534146
CACNB2Cardiovascular phenotype, Brugada syndrome 4Likely benign
(Apr 21, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr10:18816613
GRCh38:
Chr10:18527684
CACNB2Cardiovascular phenotype, Brugada syndrome 4Likely benign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr10:18807896
GRCh38:
Chr10:18518967
CACNB2R222W, R229W, R267W, R291W, R261W, R277W, R249W, R260W, R263W, R287W, R315WBrugada syndrome 4, Cardiovascular phenotypeUncertain significance
(Oct 11, 2021)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr10:18807339
GRCh38:
Chr10:18518410
CACNB2Cardiovascular phenotype, Brugada syndrome 4Likely benign
(Jun 8, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr10:18827114
GRCh38:
Chr10:18538185
CACNB2Cardiovascular phenotype, Brugada syndrome 4Likely benign
(Oct 9, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr10:18828363
GRCh38:
Chr10:18539434
CACNB2S472P, S479P, S499P, S510P, S511P, S513P, S517P, S527P, S537P, S541P, S565PBrugada syndrome 4Uncertain significance
(Sep 3, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr10:18828244
GRCh38:
Chr10:18539315
CACNB2V432D, V439D, V459D, V470D, V471D, V473D, V477D, V487D, V497D, V501D, V525DBrugada syndrome 4Uncertain significance
(Sep 3, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr10:18828341
GRCh38:
Chr10:18539412
CACNB2Cardiovascular phenotype, Brugada syndrome 4Likely benign
(Dec 23, 2021)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr10:18787269
GRCh38:
Chr10:18498340
CACNB2Brugada syndrome 4Likely benign
(Jul 22, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr10:18828272
GRCh38:
Chr10:18539343
CACNB2Cardiovascular phenotype, Brugada syndrome 4Likely benign
(Jan 8, 2021)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr10:18827168
GRCh38:
Chr10:18538239
CACNB2Brugada syndrome 4Likely benign
(Oct 9, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr10:18823060
GRCh38:
Chr10:18534131
CACNB2Brugada syndrome 4Likely benign
(Feb 9, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr10:18807267
GRCh38:
Chr10:18518338
CACNB2Cardiovascular phenotype, Brugada syndrome 4Likely benign
(May 21, 2021)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr10:18807300
GRCh38:
Chr10:18518371
CACNB2Cardiovascular phenotype, Brugada syndrome 4Likely benign
(Mar 9, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr10:18825137
GRCh38:
Chr10:18536208
CACNB2Brugada syndrome 4Likely benign
(Nov 24, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr10:18827314
GRCh38:
Chr10:18538385
CACNB2Brugada syndrome 4Likely benign
(Aug 3, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr10:18825144
GRCh38:
Chr10:18536215
CACNB2Brugada syndrome 4Likely benign
(Nov 28, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr10:18803147
GRCh38:
Chr10:18514218
CACNB2Brugada syndrome 4Benign
(Nov 1, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr10:18807832
GRCh38:
Chr10:18518903
CACNB2Brugada syndrome 4Likely benign
(Oct 28, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr10:18828482
GRCh38:
Chr10:18539553
CACNB2Brugada syndrome 4Likely benign
(Jul 12, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr10:18789794
GRCh38:
Chr10:18500865
CACNB2Cardiovascular phenotype, not specified, Brugada syndrome 4
Likely benign
(Dec 11, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr10:18828527
GRCh38:
Chr10:18539598
CACNB2Brugada syndrome 4, Cardiovascular phenotypeLikely benign
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr10:18828569
GRCh38:
Chr10:18539640
CACNB2Brugada syndrome 4Likely benign
(Dec 3, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr10:18827308
GRCh38:
Chr10:18538379
CACNB2Brugada syndrome 4Likely benign
(Jun 30, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr10:18827282
GRCh38:
Chr10:18538353
CACNB2Brugada syndrome 4Likely benign
(Nov 18, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr10:18828434
GRCh38:
Chr10:18539505
CACNB2Brugada syndrome 4Likely benign
(Feb 11, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr10:18828476
GRCh38:
Chr10:18539547
CACNB2Cardiovascular phenotype, Brugada syndrome 4Likely benign
(Apr 2, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr10:18816619
GRCh38:
Chr10:18527690
CACNB2Brugada syndrome 4Likely benign
(Nov 29, 2020)
criteria provided, single submitter
98.
GRCh37:
Chr10:18807257
GRCh38:
Chr10:18518328
CACNB2Brugada syndrome 4Likely benign
(Mar 16, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr10:18807282
GRCh38:
Chr10:18518353
CACNB2Brugada syndrome 4, Cardiovascular phenotypeLikely benign
(Apr 4, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr10:18828425
GRCh38:
Chr10:18539496
CACNB2Brugada syndrome 4Likely benign
(Oct 18, 2021)
criteria provided, single submitter
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