MCID: BRG001
MIFTS: 59

Brugada Syndrome malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Brugada Syndrome

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Sources:
11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Brugada Syndrome:

Name: Brugada Syndrome 11 22 46 23 24 13 52 25 48 37 66
Sudden Unexpected Nocturnal Death Syndrome 22 46 23 24 66
Idiopathic Ventricular Fibrillation, Brugada Type 24 52
Sudden Unexplained Nocturnal Death Syndrome 52 66
Sudden Unexplained Death Syndrome 24 25
Pokkuri Death Syndrome 24 52
 
Bangungut 24 52
Sunds 24 52
Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome 46
Dream Disease 52
Suds 24

Characteristics:

Orphanet epidemiological data:

52
brugada syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult

Classifications:



External Ids:

Disease Ontology11 DOID:0050451
MeSH37 D053840
NCIt43 C71059
Orphanet52 ORPHA130
SNOMED-CT60 418818005
ICD10 via Orphanet29 I49.8
MESH via Orphanet38 D053840
UMLS via Orphanet67 C1142166
UMLS66 C1142166, C1721096, C1955837

Summaries for Brugada Syndrome

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NIH Rare Diseases:46 Brugada syndrome is a heart condition that causes a disruption of the normal rhythm in the heart's lower chambers (ventricular arrhythmia). signs and symptoms usually develop in adulthood but the diagnosis may be made at any age. symptoms and complications often occur during rest or sleep, and may include fainting, seizures, difficulty breathing, or sudden death. brugada syndrome may be caused by a mutation in any of at least 16 genes (most commonly the scn5a gene) and is inherited in an autosomal dominant manner. an acquired (nongenetic) form has been associated with certain drugs; abnormally high blood levels of calcium or potassium; or very low levels of potassium. in some cases, the cause of brugada syndrome is unknown. treatment may include use of an implantable cardioverter defibrillator (icd). last updated: 3/16/2016

MalaCards based summary: Brugada Syndrome, also known as sudden unexpected nocturnal death syndrome, is related to brugada syndrome 1 and brugada syndrome 3. An important gene associated with Brugada Syndrome is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways are Cardiac muscle contraction and Fc-GammaR Pathway. Affiliated tissues include heart, testes and skin, and related mouse phenotypes are muscle and nervous system.

Disease Ontology:11 A heart conduction disease that is characterized by abnormal electrocardiogram (ecg) findings and an increased risk of sudden cardiac death.

Genetics Home Reference:24 Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep.

Wikipedia:69 Brugada syndrome (BrS) is a genetic disease that is characterised by abnormal electrocardiogram (ECG)... more...

GeneReviews summary for NBK1517

Related Diseases for Brugada Syndrome

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Diseases in the Brugada Syndrome family:

Brugada Syndrome 9 Brugada Syndrome 2
Brugada Syndrome 1 Brugada Syndrome 4
Brugada Syndrome 6 Brugada Syndrome 7
Brugada Syndrome 3 Brugada Syndrome 8
Brugada Syndrome 5 Scn5a-Related Brugada Syndrome

Diseases related to Brugada Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1brugada syndrome 134.1CACNA1C, KCNE3, KCNH2, SCN5A
2brugada syndrome 334.0CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNQ1
3brugada syndrome 233.9GPD1L, SCN5A
4sudden infant death syndrome29.6GPD1L, KCNE2, KCNH2, KCNJ8, KCNQ1, SCN1B
5brugada syndrome 412.2
6brugada syndrome 712.1
7brugada syndrome 612.1
8brugada syndrome 812.1
9brugada syndrome 512.1
10brugada syndrome 912.1
11scn5a-related brugada syndrome11.8
12lipomyelomeningocele10.7SCN1B, SCN5A, TRPM4
13ventricular fibrillation, familial, 110.7CACNA1C, SCN5A
14acute tricyclic antidepressant poisoning10.6CACNA2D1, KCNH2, KCNQ1
15benign infantile seizures associated to mild gastroenteritis10.6HCN4, SCN5A
16bird fancier's lung10.6HCN4, RANGRF, SCN5A
17todd's paralysis10.6KCNH2, KCNQ1, SCN5A
18camurati-engelmann disease10.5SCN1B, SCN5A
19cardiac conduction disease with or without dilated cardiomyopathy10.5KCNE2, KCNH2, KCNQ1
20endocardium disease10.5HCN4, KCNE2
21sult4a1-related altered drug metabolism10.5KCNE2, KCNH2, KCNQ1, SCN5A
22jervell and lange-nielsen syndrome10.5KCNE2, KCNH2, KCNQ1, SCN5A
23prostate malignant phyllodes tumor10.5HCN4, KCND3, KCNH2, KCNQ1, SCN5A
24microcephaly-polymicrogyria-corpus callosum agenesis syndrome10.4CACNA1C, KCNE2, KCNH2, KCNQ1, SCN5A
25atrial fibrillation, familial, 310.4CACNA1C, KCNE2, KCNH2, KCNQ1, SCN5A
26lymphoplasmacytic lymphoma10.4KCNE2, KCNH2, KCNQ1, SCN5A
27second-degree atrioventricular block10.4HCN4, KCNE2, KCNH2, KCNQ1, SCN5A
28long qt syndrome10.4
29atrial fibrillation10.3
30right bundle branch block10.3
31syncope10.3
32adams-oliver syndrome10.3HCN4, KCNE2, KCNQ1, SCN1B, SCN2B, SCN3B
33vitelliform macular dystrophy10.2KCNE2, KCNE3, KCNH2, KCNQ1, SCN2B, SCN3B
34cardiomyopathy10.2
35heart disease10.1
36wolff-parkinson-white syndrome10.1
37cardiac arrest10.1
38sick sinus syndrome10.1
39hypokalemia10.1
40catecholaminergic polymorphic ventricular tachycardia10.1
41cone dystrophy10.0CACNA1C, CACNA2D1, CACNB2, KCND3, KCNE2, KCNH2
42arrhythmogenic right ventricular cardiomyopathy10.0
43epilepsy10.0
44submucous uterine fibroid10.0CACNA1C, CACNB2, GPD1L, HCN4, KCND3, SCN1B
45melancholia10.0CACNA1C, HCN4, KCND3, KCNE2, KCNE3, KCNH2
46cardiac conduction defect10.0
47short qt syndrome10.0
48ischemia10.0
49sudden cardiac death10.0
50autonomic dysfunction10.0

Graphical network of the top 20 diseases related to Brugada Syndrome:



Diseases related to brugada syndrome

Symptoms for Brugada Syndrome

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Drugs & Therapeutics for Brugada Syndrome

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Drugs for Brugada Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
FlecainidePhase 4, Phase 1, Phase 24154143-55-43356
Synonyms:
(+-)-Flecainide
54143-55-4
54143-56-5 (monoacetate)
99495-87-1
AB00513907
AC-16019
AC1L1FQZ
BCBcMAP01_000189
BPBio1_000760
BRD-A09472452-001-02-8
BRD-A09472452-015-03-6
BSPBio_000690
BSPBio_001317
Bio1_000375
Bio1_000864
Bio1_001353
Bio2_000037
Bio2_000517
C07001
C17H20F6N2O3
CCRIS 313
CHEBI:127588
CHEMBL652
CID3356
D07962
DB01195
Flecaine
Flecainida
Flecainida [INN-Spanish]
Flecainide (INN)
Flecainide [INN:BAN]
Flecainide acetate
Flecainidum
 
Flecainidum [INN-Latin]
HMS1791B19
HMS1989B19
HMS2089E17
IDI1_033787
KBio2_000037
KBio2_002605
KBio2_005173
KBio3_000073
KBio3_000074
KBioGR_000037
KBioSS_000037
LS-27388
Lopac0_000546
MolPort-003-847-380
N-(2-Piperidinylmethyl)-2,5-bis(2,2,2-trifluoroethoxy)benzamide
N-(piperidin-2-ylmethyl)-2,5-bis(2,2,2-trifluoroethoxy)benzamide
N-(piperidin-2-ylmethyl)-2,5-bis[(2,2,2-trifluoroethyl)oxy]benzamide
NCGC00025175-03
NCGC00025175-04
NCGC00025175-05
NCGC00025175-06
NSC719273
Prestwick0_000735
Prestwick1_000735
Prestwick2_000735
Prestwick3_000735
R818
SMP1_000074
SPBio_002629
TL80090300
Tambocor
UNII-K94FTS1806
flecainide
2
ProcainamidePhase 41251-06-94913
Synonyms:
2-Diethylaminoethylamid kyseliny p-aminobenzoove
2-Diethylaminoethylamid kyseliny p-aminobenzoove [Czech]
4-14-00-01154 (Beilstein Handbook Reference)
4-Amino-N-(2-(Diethylamino)Ethyl)Benzamide Sulfate
4-Amino-N-(2-(diethylamino)ethyl)benzamide
4-Amino-N-[2-(diethylamino)ethyl]benzamide
4-amino-N-(2-diethylaminoethyl)-benzamide
4-amino-N-(2-diethylaminoethyl)benzamide
51-06-9
614-39-1 (hydrochloride)
AB00053530
AC1L1J8A
AC1Q2ZC8
AC1Q2ZC9
AC1Q2ZCA
AKOS000271131
ARONIS023727
BIDD:GT0579
BPBio1_000411
BRD-K75089421-001-02-5
BRD-K75089421-003-04-7
BRD-K75089421-003-05-4
BRN 2214285
BSPBio_000373
BSPBio_001463
BSPBio_002229
Benzamide, 4-amino-N-(2-(diethylamino)ethyl)- (9CI)
Bio1_000391
Bio1_000880
Bio1_001369
Bio2_000183
Bio2_000663
Biocoryl
C07401
C13H21N3O
CAS-614-39-1
CBDivE_003757
CHEBI:8428
CHEMBL640
CID4913
D08421
DB01035
DivK1c_000931
EINECS 200-078-8
HMS1361J05
HMS1791J05
HMS1989J05
HMS2089E13
HMS553P13
HSDB 3170
IDI1_000931
IDI1_033933
KBio1_000931
KBio2_000183
KBio2_001316
KBio2_002751
KBio2_003884
KBio2_005319
KBio2_006452
KBio3_000365
 
KBio3_000366
KBio3_001729
KBioGR_000183
KBioGR_000973
KBioSS_000183
KBioSS_001316
L001052
LS-25492
Lopac-P-9391
Lopac0_000995
Maybridge1_004389
MolPort-001-783-481
NCGC00015859-01
NCGC00015859-02
NCGC00015859-03
NCGC00015859-10
NCGC00024323-03
NCGC00024323-04
NCGC00024323-05
NCGC00024323-06
NINDS_000931
NSC 27461
NSC27461
Novocainamid
Novocainamide
Novocaine amide
Novocamid
PROCAINAMIDE
Prestwick0_000337
Prestwick1_000337
Prestwick2_000337
Prestwick3_000337
Procainamida
Procainamida [INN-Spanish]
Procainamide
Procainamide (INN)
Procainamide [INN:BAN]
Procainamidum
Procainamidum [INN-Latin]
Procaine amide
Procamide
Procan
Procanbid
Procapan
Procapan (free base)
Pronestyl
Pronestyl-Sr
SMP1_000055
SPBio_001329
SPBio_002294
ST077772
STK367963
Spectrum2_001295
Spectrum3_000555
Spectrum4_000487
Spectrum5_000986
Spectrum_000836
UNII-L39WTC366D
WLN: ZR DVM2N2&2
p-Amino-N-(2-diethylaminoethyl)benzamide
p-Aminobenzoic diethylaminoethylamide
3
AjmalineNutraceuticalPhase 434360-12-7441080
Synonyms:
(+)-Ajmaline
 
(5AR,6S,8S,10S,11S,11as,12ar,13R)-5-methyl-5a,6,8,9,10,11,11a,12-octahydro-5H-6,10:11,12a-dimethanoindolo[3,2-b]quinolizine-8,13-diol
Ajmalin
4
QuinidinePhase 2, Phase 34456-54-2441074
Synonyms:
(+)-quinidine
(-)-Quinine
(8R,9S)-Quinidine
(R)-(6-Methoxyquinolin-4-yl)((3S,4R,7S)-3-vinylquinuclidin-7-yl)methanol
(S)-(6-Methoxy-quinolin-4-yl)-((2R,5R)-5-vinyl-1-aza-bicyclo[2.2.2]oct-2-yl)-methanol
(S)-(6-Methoxyquinolin-4-yl)((2R,5R)-5-vinylquinuclidin-2-yl)methanol
11010-73-4
12239-42-8
128544-03-6
130-89-2
130-95-0
1407-83-6
21480-31-9
22600_FLUKA
22620_FLUKA
22620_SIGMA
50-54-4
500225-45-6
549-56-4
55980-20-6
56-54-2
572-59-8
6-Methoxy-alpha-(5-vinyl-2-quinuclidinyl)-4-quinolinemethanol
6119-70-6
6151-39-9
6151-40-2
6183-68-2
6591-63-5
6912-57-8
72646-90-3
767303-40-2
804-63-7
840482-04-4
845886-64-8
857212-53-4
864908-93-0
875538-34-4
882741-47-1
883881-01-4
888714-03-2
890027-24-4
894767-09-0
898813-59-7
898814-00-1
898814-28-3
899813-83-3
900786-66-5
900789-95-9
906550-97-8
909263-47-4
909767-48-2
909882-78-6
910878-25-0
910880-97-6
910899-51-3
911445-75-5
918778-04-8
AB00514657
AC1L199L
AC1L1ANE
AC1L1LHL
AC1L1R7Y
AC1L3RNZ
AC1L9AHT
AC1L9AHW
AC1LCUGN
AC1LDI43
AC1LDI46
AC1MBNAI
AC1MHDEF
AC1MHUCH
AC1MHWS7
AC1MI1Q5
AC1NSV55
AC1NSV58
AC1NSZYR
AC1NSZYU
AC1NUNML
AC1NUNMO
AC1NX8JM
AC1O56R7
AC1O7EE0
AC1O7GNZ
AC1OAH7Z
AC1OCD5W
AC1OCD62
AC1OFCPL
AC1Q4EZ5
AC1Q4EZ6
AC1Q58AF
AR-1A4833
AR-1H2065
Aflukin
Apo-Quinidine
Auriquin
BB_NC-0697
BIB1110
BIDD:GT0144
Biquin Durules
C06526
C06527
C20H24N2O2
CCRIS 5755
CCRIS 672
CHEBI:111177
CHEBI:15854
CHEBI:28593
CHEMBL170
CHEMBL21578
CHEMBL576997
CHEMBL601807
CHEMBL97
CID10448938
CID1065
CID25522
CID2728270
CID3000825
CID3032576
CID3034034
CID3036746
CID441073
CID441074
CID5317111
CID5317112
CID5320867
CID5320868
 
CID5484444
CID5484450
CID5748152
CID5953
CID637552
CID6453100
CID6602154
CID6604605
CID667448
CID667449
CID6857801
CID6916033
CID6916036
CID7048767
CID8549
CID94175
CID9967055
CIN-QUIN
CPD000857275
Cardioquin
Chinidin
Chinidine
Chinidinum
Chinin
Chinine
Cin-Quin
Coccinine
Coco-Quinine
Conchinin
Conchinine
Conquinine
D08458
D08460
DB00468
DB00908
Duraquin
Epiquinidine
FT-0082277
GNF-PF-5459
GNF-Pf-180
GNF-Pf-5423
HMS1304I22
HMS1607A11
HMS1989J09
HMS2089E05
HSDB 225
HSDB 2501
I14-3348
I14-3397
IBS-L0034250
IDI1_000134
KBio1_000134
KBio2_001392
KBio2_003960
KBio2_006528
KBio3_001551
KST-1A1085
Kinidin
Kinidin (TN)
L001278
LS-141252
LS-187236
LS-194958
LS-221
LS-4562
LT00645788
Lopac-Q-0875
Lopac-Q-1250
MLS001304041
MLS001335913
MLS001335914
NCI-C56246
NCI60_004320
NINDS_000134
NSC 192949
NSC 5362
NSC131458
NSC192949
NSC5362
NSC667852
Novoquinidin
OR28880
Pitayin
Pitayine
Q0006
Q3625_SIGMA
Quin-Release
Quinact
Quinaglute
Quinaglute Dura-Tabs
Quinalan
Quinate
Quinatime
Quindan
Quindine
Quinicardine
Quinidex
Quinidex Extentabs
Quinidina
Quinidine
Quinidine Gluconate
Quinidine Sulfate
Quiniduran
Quinimax
Quinine
Quinine Dab
Quinora
Quniacridine
RH01857
SAM002264644
SB01652
SMP1_000254
SMR000718748
SMR000857275
SPBio_001375
SPBio_002379
ST056282
TCMDC-131239
TNP00086
alpha-(6-Methoxy-4-quinolyl)-5-vinyl-2-quinuclidinemethanol
beta-Quinine
bmse000511
chinidinum
chininum
quinidina
quinidine
quinina
β-quinine
5
4-AminopyridinePhase 367504-24-51727
Synonyms:
.gamma.-Aminopyridine
275875_ALDRICH
36687_FLUKA
36687_RIEDEL
4 AP
4 Aminopyridine
4 Aminopyridine Sustained Release
4-AP
4-Aminopyridine
4-Aminopyridine 10
4-Aminopyridine Sustained Release
4-Pyridinamine
4-Pyridylamine
4-aminopyridine
5-22-09-00106 (Beilstein Handbook Reference)
504-24-5
A 0152
A0414
A78403_ALDRICH
AB1004971
AC-907/25014071
AC1L1C3R
AC1Q52BM
AI3-52547
AKOS000119896
Amaya
Amino-4 pyridine
Amino-4-Pyridine
Ampydin
Ampyra
Avitrol
Avitrol 200
BB_SC-6974
BRN 0105782
BSPBio_001562
Bio1_000353
Bio1_000842
Bio1_001331
Bio2_000282
Bio2_000762
C13728
C5H6N2
CHEBI:34385
CHEMBL284348
CID1727
Caswell No. 038
Compound 1861
D015761
D04127
Dalfampridine
DivK1c_000572
EINECS 207-987-9
EL-970
EPA Pesticide Chemical Code 069201
EU-0100032
FT-0083754
Fampridina
Fampridine
Fampridine (USAN/INN)
Fampridine SR
Fampridine [USAN:INN]
Fampridine-PR
Fampridine-SR
Fampridinum
HC150041
HMS1361O04
HMS1791O04
HMS1921H15
HMS1989O04
HMS2092F05
HMS501M14
HSDB 6037
IDI1_000572
IDI1_034032
InChI=1/C5H6N2/c6-5-1-3-7-4-2-5/h1-4H,(H2,6,7
KBio1_000572
 
KBio2_000282
KBio2_000635
KBio2_002850
KBio2_003203
KBio2_005418
KBio2_005771
KBio3_000563
KBio3_000564
KBio3_001888
KBioGR_000282
KBioGR_001505
KBioSS_000282
KBioSS_000635
LS-130202
Lopac-A-0152
Lopac0_000032
MLS000069400
Mi-W-3
MolPort-000-146-022
N07XX07
NCGC00015009-01
NCGC00015009-03
NCGC00015009-12
NCGC00024890-01
NCGC00024890-02
NCGC00024890-03
NCGC00024890-04
NCGC00024890-05
NCGC00024890-06
NCGC00024890-07
NCGC00024890-08
NCGC00024890-09
NCGC00024890-10
NINDS_000572
NSC 15041
NSC15041
Neurelan
Neurelan (TN)
P-Aminopyridine
PYRIDINE,4-AMINO
Philips 1861
Phillips 1861
Pimadin (free base)
Prc 1237
Pymadin
Pymadine
RCRA waste no. P008
SDCCGMLS-0066228.P001
SMR000058211
SPBio_001486
SPECTRUM1501130
STK298717
Spectrum2_001413
Spectrum3_000914
Spectrum4_001013
Spectrum5_001501
Spectrum_000155
Sustained Release, 4-Aminopyridine
TL8003344
Tocris-0940
UNII-BH3B64OKL9
UPCMLD-DP125
UPCMLD-DP125:001
VMI 10-3
VMI 103
VMI-10-3
VMI-103
VMI103
WLN: T6NJ DZ
[J.Pharmacol.Exp.Ther. 275:864 (1995)]
gamma-Aminopyridine
nchem.892-comp4
p-Aminopyridine
p-Aminopyridine [UN2671] [Poison]
p-Aminopyridine [UN2671] [Poison]
pyridin-4-amine
pyridin-4-ylamine

Interventional clinical trials:

(show all 16)
idNameStatusNCT IDPhase
1Ajmaline Utilization in the Diagnosis and Treatment of Cardiac ArrhythmiasCompletedNCT00702117Phase 4
2Empiric Quinidine for Asymptomatic Brugada SyndromeRecruitingNCT00789165Phase 2, Phase 3
3Registry of Unexplained Cardiac ArrestRecruitingNCT00292032Phase 3
4Efficacy of Transcatheter Ablation Using Anatomic Approach of Ganglionated Plexi Located in the Right Atrium to Prevent Neuromediated Cardioinhibitory SyncopeRecruitingNCT01814228Phase 3
5DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada SyndromeNot yet recruitingNCT00701077Phase 3
6Hydroquinidine Versus Placebo in Patients With Brugada SyndromeTerminatedNCT00927732Phase 3
7Diagnostic Value and Safety of Flecainide Infusion Test in Brugada SyndromeRecruitingNCT02302274Phase 1, Phase 2
8AnalyST & Brugada Syndrome - Feasibility StudyCompletedNCT02052765
9Brugada Syndrome: A New Treatment Approach Driven by Clinical ExperienceRecruitingNCT02641431
10Evaluation of Subcutaneous Implantable Cardiac Defibrillator in Brugada PatientsRecruitingNCT02344277
11Worm Study: Modifier Genes in Sudden Cardiac DeathRecruitingNCT02014961
12Molecular Genetic Screening and Identification of Congenital Arrhythmogenic DiseasesRecruitingNCT00221832
13Genetic Markers of Cardiovascular Disease in EpilepsyRecruitingNCT02824822
14Investigating Hereditary Cardiac Disease by Reprogramming Skin Cells to Heart MuscleActive, not recruitingNCT01865981
15Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac ArrhythmiasEnrolling by invitationNCT02413450
16Ablation in Brugada Syndrome for the Prevention of VFNot yet recruitingNCT02704416

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Cochrane evidence based reviews: brugada syndrome

Genetic Tests for Brugada Syndrome

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Genetic tests related to Brugada Syndrome:

id Genetic test Affiliating Genes
1 Brugada Syndrome25 23 SCN5A
2 Sudden Unexplained Death25

Anatomical Context for Brugada Syndrome

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MalaCards organs/tissues related to Brugada Syndrome:

34
Heart, Testes, Skin, Myeloid, Eye, Brain

Animal Models for Brugada Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Brugada Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.7CACNA1C, CACNA2D1, HCN4, KCNH2, KCNQ1, PKP2
2MP:00036318.9CACNA1C, CACNA2D1, CACNB2, HCN4, KCNE3, KCNQ1
3MP:00053858.7CACNA1C, CACNA2D1, CACNB2, HCN4, KCND3, KCNE3

Publications for Brugada Syndrome

About this section

Articles related to Brugada Syndrome:

(show top 50)    (show all 715)
idTitleAuthorsYear
1
Search for Evidence-Based Medicine for Brugada Syndrome. (27150695)
2016
2
Prevalence and Clinical Impact of Early Repolarization Pattern and QRS-Fragmentation in High-Risk Patients With Brugada Syndrome. (27558008)
2016
3
Multiple lithium-dependent Brugada syndrome unmasking events in a bipolar patient. (25678966)
2015
4
Management of Brugada Syndrome: A 33-Year Experience Using Electrophysiologically-Guided Therapy with Class 1A Antiarrhythmic Drugs. (26354972)
2015
5
VERP in Brugada syndrome - Very effective risk predictor? (25731832)
2015
6
Enhanced Classification of Brugada Syndrome- and Long QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Nav1.5 Cardiac Sodium Channel. (25904541)
2015
7
p.Y1449C SCN5A mutation associated with overlap disorder comprising conduction disease, Brugada syndrome, and atrial flutter. (24903439)
2015
8
Right coronary cusp as a new window of ablation for pilsicainide-induced ventricular premature contractions in a patient with Brugada syndrome. (26510553)
2015
9
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. (24136861)
2014
10
Brugada Syndrome: A Heterogeneous Disease with a Common Ecg Phenotype? (24405173)
2014
11
Clinic and genetic polymorphism of Brugada syndrome in Russian patients, caused by mutation in SCN5A gene]. (23503384)
2013
12
Role of mutations in L-type calcium channel genes in Brugada syndrome, early repolarization syndrome, and idiopathic ventricular fibrillation associated with right bundle branch block. (23739544)
2013
13
Brugada burden in Brugada syndrome: the way to go in risk stratification? (23583498)
2013
14
Ventricular fibrillation with a 2:1 conduction block over the right ventricle in a Brugada syndrome patient. (24065342)
2013
15
The Brugada syndrome revisited. (24332084)
2013
16
Prognostic value of programmed ventricular stimulation in Brugada syndrome according to clinical presentation: an updated meta-analysis of worldwide published data. (23642819)
2013
17
Brugada syndrome 2012. (22789973)
2012
18
Use of implantable loop recorders in patients with Brugada syndrome and suspected risk of ventricular arrhythmia. (21979995)
2012
19
Insights into the location of type I ECG in patients with Brugada syndrome: correlation of ECG and cardiovascular magnetic resonance imaging. (22119454)
2012
20
Late perforation of the ventricular ICD lead causes a pericarditis like ECG in a patient with Brugada syndrome. (22370366)
2012
21
Effect of sodium-channel blockade on early repolarization in inferior/lateral leads in patients with idiopathic ventricular fibrillation and Brugada syndrome. (21855521)
2012
22
Mexiletine differentially restores the trafficking defects caused by two brugada syndrome mutations. (22529811)
2012
23
Outcome after implantable cardioverter-defibrillator in patients with Brugada syndrome: the Gulf Brugada syndrome registry. (22074744)
2012
24
An atypical case of Brugada syndrome. (22008499)
2011
25
Does a Brugada pattern ECG precipitated by excessive-dose flecainide provide a diagnosis of a Brugada syndrome patient and/or contraindicate its use? A case study. (21846883)
2011
26
The psychological impact of implantable cardioverter defibrillator implantation on Brugada syndrome patients. (21427091)
2011
27
Rebuttal to EP testing does not predict cardiac events in patients with Brugada syndrome. (21782776)
2011
28
Role of the R1135H KCNH2 mutation in Brugada syndrome. (19174314)
2010
29
Local conduction block of the atria by premature stimulus in a patient with Brugada syndrome. (19698955)
2010
30
Brugada syndrome: Controversies in Risk stratification and Management. (20930958)
2010
31
Mode of onset of ventricular fibrillation in patients with early repolarization pattern vs. Brugada syndrome. (19880418)
2010
32
Abnormal atrial repolarization and depolarization contribute to the inducibility of atrial fibrillation in Brugada syndrome. (20558904)
2010
33
Prevalence of the Brugada-type electrocardiogram and incidence of Brugada syndrome in patients with sick sinus syndrome. (20019410)
2010
34
Prevention of inappropriate ICD shocks in patients with Brugada syndrome. (19760052)
2010
35
Ischemia-induced Brugada-type ST-segment alternans and Brugada syndrome. (19345432)
2010
36
Structural myocardial abnormalities in asymptomatic family members with Brugada syndrome and SCN5A gene mutation. (19411664)
2009
37
Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org). (19716089)
2009
38
A paradoxical effect of lidocaine for the N406S mutation of SCN5A associated with Brugada syndrome. (17445919)
2007
39
The management of Brugada syndrome patients. (18651443)
2007
40
Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation. (17854786)
2007
41
Brugada syndrome in a north Indian female-a case report. (19057062)
2006
42
Brugada syndrome--an update. (15880981)
2005
43
Atrial fibrillation and recurrent ventricular fibrillation during hypokalemia in Brugada syndrome. (16403168)
2005
44
A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. (15910881)
2005
45
PCR-based site-directed mutagenesis and recombinant expression plasmid construction of a SCN5A mutation (K317N) identified in a Chinese family with Brugada syndrome]. (14625171)
2003
46
Electrical alternans in long QT syndrome resembling a Brugada syndrome pattern. (14516346)
2003
47
Natural history of Brugada syndrome: insights for risk stratification and management. (11901046)
2002
48
Brugada syndrome: the syndrome of right bundle branch block, ST segment elevation in V1 to V3 and sudden death. (17006566)
2001
49
Biophysical phenotypes of SCN5A mutations causing long QT and Brugada syndromes. (11150514)
2000
50
Brugada syndrome without mutation of the cardiac sodium channel gene in a Taiwanese patient. (11155778)
2000

Variations for Brugada Syndrome

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Clinvar genetic disease variations for Brugada Syndrome:

5 (show all 237)
id Gene Variation Type Significance SNP ID Assembly Location
1KCNH2NM_000238.3(KCNH2): c.2350C> T (p.Arg784Trp)single nucleotide variantLikely pathogenic, Pathogenic, risk factorrs12720441GRCh37Chr 7, 150647304: 150647304
2CACNA1CNM_000719.6(CACNA1C): c.116C> T (p.Ala39Val)single nucleotide variantPathogenicrs121912776GRCh37Chr 12, 2224456: 2224456
3SCN5ANM_198056.2(SCN5A): c.3995delC (p.Pro1332Argfs)deletionPathogenicrs727504801GRCh37Chr 3, 38601888: 38601888
4SCN5ANM_198056.2(SCN5A): c.1936delC (p.Gln646Argfs)deletionPathogenicrs727505158GRCh38Chr 3, 38599005: 38599005
5SCN5ANM_198056.2(SCN5A): c.2582_2583delTT (p.Phe861Trpfs)deletionPathogenicrs794728914GRCh38Chr 3, 38585895: 38585896
6SCN5ANM_198056.2(SCN5A): c.4182C> G (p.Tyr1394Ter)single nucleotide variantPathogenicrs863224532GRCh38Chr 3, 38560210: 38560210
7SCN5ANM_198056.2(SCN5A): c.4845_4847delCTTinsGTA (p.Tyr1615Ter)indelPathogenicrs863224533GRCh37Chr 3, 38593016: 38593018
8SCN5ANM_198056.2(SCN5A): c.4772G> A (p.Trp1591Ter)single nucleotide variantPathogenicrs863225273GRCh37Chr 3, 38595811: 38595811
9SCN5ANM_198056.2(SCN5A): c.3352C> T (p.Gln1118Ter)single nucleotide variantLikely pathogenic, Pathogenicrs869025520GRCh37Chr 3, 38620863: 38620863
10SCN5ANM_000335.4(SCN5A)indelPathogenicrs878855287GRCh38Chr 3, 38581005: 38581017
11SCN3BNM_018400.3(SCN3B): c.29T> C (p.Leu10Pro)single nucleotide variantLikely pathogenic, Pathogenicrs121918282GRCh37Chr 11, 123524481: 123524481
12SCN5ANM_000335.4(SCN5A): c.2314G> A (p.Asp772Asn)single nucleotide variantPathogenicrs199473157GRCh37Chr 3, 38629013: 38629013
13SCN5ANM_000335.4(SCN5A): c.53G> A (p.Arg18Gln)single nucleotide variantPathogenicrs41311087GRCh37Chr 3, 38674746: 38674746
14KCNE3NM_005472.4(KCNE3): c.296G> A (p.Arg99His)single nucleotide variantPathogenicrs121908441GRCh37Chr 11, 74168313: 74168313
15CACNA1CNM_000719.6(CACNA1C): c.3343G> A (p.Glu1115Lys)single nucleotide variantPathogenicrs199473391GRCh37Chr 12, 2716283: 2716283
16NM_000719.6(CACNA1C): c.6040G> A (p.Val2014Ile)single nucleotide variantPathogenicrs199473660GRCh37Chr 12, 2797868: 2797868
17CACNA1CNM_000719.6(CACNA1C): c.6388G> A (p.Asp2130Asn)single nucleotide variantPathogenicrs199473392GRCh37Chr 12, 2800336: 2800336
18SCN5ANM_198056.2(SCN5A): c.1007C> T (p.Pro336Leu)single nucleotide variantPathogenicrs199473093GRCh37Chr 3, 38648293: 38648293
19SCN5ANM_198056.2(SCN5A): c.103G> A (p.Gly35Ser)single nucleotide variantPathogenicrs199473552GRCh37Chr 3, 38674696: 38674696
20SCN5ANM_000335.4(SCN5A): c.1052G> A (p.Gly351Asp)single nucleotide variantPathogenicrs199473095GRCh37Chr 3, 38648248: 38648248
21SCN5ANM_000335.4(SCN5A): c.1052G> T (p.Gly351Val)single nucleotide variantPathogenicrs199473095GRCh37Chr 3, 38648248: 38648248
22SCN5ANM_000335.4(SCN5A): c.1058C> T (p.Thr353Ile)single nucleotide variantPathogenicrs199473096GRCh37Chr 3, 38648242: 38648242
23SCN5ANM_198056.2(SCN5A): c.1066G> A (p.Asp356Asn)single nucleotide variantLikely pathogenic, Pathogenicrs199473565GRCh37Chr 3, 38648234: 38648234
24SCN5ANM_000335.4(SCN5A): c.1100G> T (p.Arg367Leu)single nucleotide variantPathogenicrs28937318GRCh37Chr 3, 38648200: 38648200
25SCN5ANM_000335.4(SCN5A): c.1106T> A (p.Met369Lys)single nucleotide variantPathogenicrs199473098GRCh37Chr 3, 38648194: 38648194
26SCN5ANM_000335.4(SCN5A): c.1120T> G (p.Trp374Gly)single nucleotide variantPathogenicrs199473566GRCh37Chr 3, 38648180: 38648180
27SCN5ANM_198056.2(SCN5A): c.1127G> A (p.Arg376His)single nucleotide variantPathogenicrs199473101GRCh37Chr 3, 38648173: 38648173
28SCN5ANM_000335.4(SCN5A): c.1156G> A (p.Gly386Arg)single nucleotide variantPathogenicrs199473102GRCh37Chr 3, 38647624: 38647624
29SCN5ANM_000335.4(SCN5A): c.1157G> A (p.Gly386Glu)single nucleotide variantPathogenicrs199473567GRCh37Chr 3, 38647623: 38647623
30SCN5ANM_000335.4(SCN5A): c.1186G> C (p.Val396Leu)single nucleotide variantPathogenicrs199473104GRCh37Chr 3, 38647594: 38647594
31SCN5ANM_000335.4(SCN5A): c.1187T> C (p.Val396Ala)single nucleotide variantPathogenicrs199473103GRCh37Chr 3, 38647593: 38647593
32SCN5ANM_000335.4(SCN5A): c.1217A> G (p.Asn406Ser)single nucleotide variantPathogenicrs199473568GRCh37Chr 3, 38647563: 38647563
33SCN5ANM_000335.4(SCN5A): c.1231G> A (p.Val411Met)single nucleotide variantPathogenicrs72549410GRCh37Chr 3, 38647549: 38647549
34SCN5ANM_000335.4(SCN5A): c.1315G> A (p.Glu439Lys)single nucleotide variantPathogenicrs199473570GRCh37Chr 3, 38647465: 38647465
35SCN5ANM_000335.4(SCN5A): c.1502A> G (p.Asp501Gly)single nucleotide variantPathogenicrs199473117GRCh37Chr 3, 38646236: 38646236
36SCN5ANM_198056.2(SCN5A): c.1535C> T (p.Thr512Ile)single nucleotide variantPathogenicrs199473118GRCh37Chr 3, 38645558: 38645558
37SCN5ANM_000335.4(SCN5A): c.1577G> A (p.Arg526His)single nucleotide variantPathogenicrs45627438GRCh37Chr 3, 38645516: 38645516
38SCN5ANM_198056.2(SCN5A): c.1595T> G (p.Phe532Cys)single nucleotide variantLikely pathogenic, Pathogenicrs199473573GRCh37Chr 3, 38645498: 38645498
39SCN5ANM_000335.4(SCN5A): c.1629T> A (p.Phe543Leu)single nucleotide variantPathogenicrs199473122GRCh37Chr 3, 38645464: 38645464
40SCN5ANM_000335.4(SCN5A): c.1651G> A (p.Ala551Thr)single nucleotide variantPathogenicrs199473574GRCh37Chr 3, 38645442: 38645442
41SCN5ANM_000335.4(SCN5A): c.1654G> A (p.Gly552Arg)single nucleotide variantPathogenicrs3918389GRCh37Chr 3, 38645439: 38645439
42SCN5ANM_198056.2(SCN5A): c.1700T> A (p.Leu567Gln)single nucleotide variantPathogenicrs199473124GRCh37Chr 3, 38645393: 38645393
43SCN5ANM_000335.4(SCN5A): c.1756G> A (p.Ala586Thr)single nucleotide variantPathogenicrs199473129GRCh37Chr 3, 38645337: 38645337
44SCN5ANM_000335.4(SCN5A): c.1855C> T (p.Leu619Phe)single nucleotide variantPathogenicrs199473133GRCh37Chr 3, 38645238: 38645238
45SCN5ANM_000335.4(SCN5A): c.1858C> T (p.Arg620Cys)single nucleotide variantPathogenicrs199473577GRCh37Chr 3, 38645235: 38645235
46SCN5ANM_000335.4(SCN5A): c.1895C> T (p.Thr632Met)single nucleotide variantPathogenicrs199473134GRCh37Chr 3, 38640537: 38640537
47SCN5ANM_000335.4(SCN5A): c.1918C> G (p.Pro640Ala)single nucleotide variantPathogenicrs199473137GRCh37Chr 3, 38640514: 38640514
48SCN5ANM_000335.4(SCN5A): c.1981C> T (p.Arg661Trp)single nucleotide variantPathogenicrs199473139GRCh37Chr 3, 38640451: 38640451
49SCN5ANM_000335.4(SCN5A): c.2042A> C (p.His681Pro)single nucleotide variantPathogenicrs199473143GRCh37Chr 3, 38639440: 38639440
50SCN5ANM_000335.4(SCN5A): c.2047T> G (p.Cys683Gly)single nucleotide variantPathogenicrs199473144GRCh37Chr 3, 38639435: 38639435
51SCN5ANM_000335.4(SCN5A): c.210T> G (p.Asn70Lys)single nucleotide variantPathogenicrs199473050GRCh37Chr 3, 38674589: 38674589
52SCN5ANM_000335.4(SCN5A): c.2150C> T (p.Pro717Leu)single nucleotide variantPathogenicrs199473149GRCh37Chr 3, 38639332: 38639332
53SCN5ANM_000335.4(SCN5A): c.2203G> A (p.Ala735Thr)single nucleotide variantPathogenicrs199473151GRCh37Chr 3, 38639279: 38639279
54SCN5ANM_000335.4(SCN5A): c.2204C> A (p.Ala735Glu)single nucleotide variantPathogenicrs137854611GRCh37Chr 3, 38639278: 38639278
55SCN5ANM_000335.4(SCN5A): c.2236G> A (p.Glu746Lys)single nucleotide variantPathogenicrs199473582GRCh37Chr 3, 38639246: 38639246
56SCN5ANM_198056.2(SCN5A): c.2254G> A (p.Gly752Arg)single nucleotide variantLikely pathogenic, Pathogenicrs199473153GRCh37Chr 3, 38639228: 38639228
57SCN5ANM_000335.4(SCN5A): c.2273G> A (p.Gly758Glu)single nucleotide variantPathogenicrs199473154GRCh37Chr 3, 38629054: 38629054
58SCN5ANM_000335.4(SCN5A): c.2291T> G (p.Met764Arg)single nucleotide variantPathogenicrs199473156GRCh37Chr 3, 38629036: 38629036
59SCN5ANM_000335.4(SCN5A): c.2317C> T (p.Pro773Ser)single nucleotide variantPathogenicrs199473158GRCh37Chr 3, 38629010: 38629010
60SCN5ANM_000335.4(SCN5A): c.2365G> A (p.Val789Ile)single nucleotide variantPathogenicrs199473159GRCh37Chr 3, 38628962: 38628962
61SCN5ANM_198056.2(SCN5A): c.2441G> A (p.Arg814Gln)single nucleotide variantPathogenicrs199473584GRCh37Chr 3, 38627528: 38627528
62SCN5ANM_000335.4(SCN5A): c.2504C> T (p.Ser835Leu)single nucleotide variantPathogenicrs199473163GRCh37Chr 3, 38627465: 38627465
63SCN5ANM_000335.4(SCN5A): c.250G> A (p.Asp84Asn)single nucleotide variantPathogenicrs199473051GRCh37Chr 3, 38674549: 38674549
64SCN5ANM_000335.4(SCN5A): c.2516T> C (p.Leu839Pro)single nucleotide variantPathogenicrs199473164GRCh37Chr 3, 38627453: 38627453
65SCN5ANM_000335.4(SCN5A): c.2551T> C (p.Phe851Leu)single nucleotide variantPathogenicrs199473586GRCh37Chr 3, 38627418: 38627418
66SCN5ANM_000335.4(SCN5A): c.2553C> A (p.Phe851Leu)single nucleotide variantPathogenicrs199473340GRCh37Chr 3, 38627416: 38627416
67SCN5ANM_000335.4(SCN5A): c.2599G> C (p.Glu867Gln)single nucleotide variantPathogenicrs199473167GRCh37Chr 3, 38627370: 38627370
68SCN5ANM_198056.2(SCN5A): c.2632C> T (p.Arg878Cys)single nucleotide variantPathogenicrs199473168GRCh37Chr 3, 38627337: 38627337
69SCN5ANM_000335.4(SCN5A): c.2633G> A (p.Arg878His)single nucleotide variantPathogenicrs199473587GRCh37Chr 3, 38627336: 38627336
70SCN5ANM_000335.4(SCN5A): c.2657A> C (p.His886Pro)single nucleotide variantPathogenicrs199473169GRCh37Chr 3, 38627312: 38627312
71SCN5ANM_000335.4(SCN5A): c.2674T> A (p.Phe892Ile)single nucleotide variantPathogenicrs199473170GRCh37Chr 3, 38627295: 38627295
72SCN5ANM_198056.2(SCN5A): c.2677C> T (p.Arg893Cys)single nucleotide variantPathogenicrs199473171GRCh37Chr 3, 38627292: 38627292
73SCN5ANM_000335.4(SCN5A): c.2678G> A (p.Arg893His)single nucleotide variantPathogenicrs199473172GRCh37Chr 3, 38627291: 38627291
74SCN5ANM_000335.4(SCN5A): c.2686T> A (p.Cys896Ser)single nucleotide variantPathogenicrs199473173GRCh37Chr 3, 38627283: 38627283
75SCN5ANM_000335.4(SCN5A): c.2701G> A (p.Glu901Lys)single nucleotide variantPathogenicrs199473174GRCh37Chr 3, 38627268: 38627268
76SCN5ANM_000335.4(SCN5A): c.2729C> T (p.Ser910Leu)single nucleotide variantPathogenicrs199473175GRCh37Chr 3, 38627240: 38627240
77SCN5ANM_000335.4(SCN5A): c.2743T> C (p.Cys915Arg)single nucleotide variantPathogenicrs199473588GRCh37Chr 3, 38627226: 38627226
78SCN5ANM_000335.4(SCN5A): c.2750T> G (p.Leu917Arg)single nucleotide variantPathogenicrs199473176GRCh37Chr 3, 38627219: 38627219
79SCN5ANM_000335.4(SCN5A): c.2780A> G (p.Asn927Ser)single nucleotide variantPathogenicrs199473589GRCh37Chr 3, 38627189: 38627189
80SCN5ANM_000335.4(SCN5A): c.2783T> C (p.Leu928Pro)single nucleotide variantPathogenicrs199473178GRCh37Chr 3, 38627186: 38627186
81SCN5ANM_000335.4(SCN5A): c.278T> C (p.Phe93Ser)single nucleotide variantPathogenicrs199473052GRCh37Chr 3, 38671916: 38671916
82SCN5ANM_000335.4(SCN5A): c.2804T> C (p.Leu935Pro)single nucleotide variantPathogenicrs199473179GRCh37Chr 3, 38622846: 38622846
83SCN5ANM_000335.4(SCN5A): c.281T> G (p.Ile94Ser)single nucleotide variantPathogenicrs199473053GRCh37Chr 3, 38671913: 38671913
84SCN5ANM_198056.2(SCN5A): c.283G> A (p.Val95Ile)single nucleotide variantLikely pathogenic, Pathogenicrs199473054GRCh37Chr 3, 38671911: 38671911
85SCN5ANM_198056.2(SCN5A): c.2893C> T (p.Arg965Cys)single nucleotide variantLikely pathogenic, Pathogenicrs199473180GRCh37Chr 3, 38622757: 38622757
86SCN5ANM_000335.4(SCN5A): c.2894G> A (p.Arg965His)single nucleotide variantPathogenicrs199473181GRCh37Chr 3, 38622756: 38622756
87SCN5ANM_198056.2(SCN5A): c.2989G> A (p.Ala997Thr)single nucleotide variantLikely pathogenic, Pathogenicrs137854609GRCh37Chr 3, 38622661: 38622661
88SCN5ANM_000335.4(SCN5A): c.310C> T (p.Arg104Trp)single nucleotide variantPathogenicrs199473055GRCh37Chr 3, 38671884: 38671884
89SCN5ANM_198056.2(SCN5A): c.311G> A (p.Arg104Gln)single nucleotide variantPathogenicrs199473554GRCh37Chr 3, 38671883: 38671883
90SCN5ANM_000335.4(SCN5A): c.3164A> G (p.Asp1055Gly)single nucleotide variantPathogenicrs199473593GRCh37Chr 3, 38622486: 38622486
91SCN5ANM_000335.4(SCN5A): c.3233C> A (p.Ser1078Tyr)single nucleotide variantPathogenicrs199473188GRCh37Chr 3, 38620979: 38620979
92SCN5ANM_000335.4(SCN5A): c.327C> A (p.Asn109Lys)single nucleotide variantPathogenicrs199473056GRCh37Chr 3, 38671867: 38671867
93SCN5ANM_000335.4(SCN5A): c.3335C> T (p.Ala1112Val)single nucleotide variantPathogenicrs199473194GRCh37Chr 3, 38620877: 38620877
94SCN5ANM_000335.4(SCN5A): c.3416G> C (p.Ser1139Thr)single nucleotide variantPathogenicrs199473199GRCh37Chr 3, 38618244: 38618244
95SCN5ANM_000335.4(SCN5A): c.361C> T (p.Arg121Trp)single nucleotide variantPathogenicrs199473556GRCh37Chr 3, 38671833: 38671833
96SCN5ANM_000335.4(SCN5A): c.362G> A (p.Arg121Gln)single nucleotide variantPathogenicrs199473058GRCh37Chr 3, 38671832: 38671832
97SCN5ANM_000335.4(SCN5A): c.3653G> A (p.Ser1218Asn)single nucleotide variantPathogenicrs199473597GRCh37Chr 3, 38616798: 38616798
98SCN5ANM_000335.4(SCN5A): c.3679T> C (p.Tyr1227His)single nucleotide variantPathogenicrs199473205GRCh37Chr 3, 38608058: 38608058
99SCN5ANM_198056.2(SCN5A): c.3694C> T (p.Arg1232Trp)single nucleotide variantLikely pathogenic, Pathogenicrs199473207GRCh37Chr 3, 38608046: 38608046
100SCN5ANM_198056.2(SCN5A): c.3695G> A (p.Arg1232Gln)single nucleotide variantLikely pathogenic, Pathogenicrs199473206GRCh37Chr 3, 38608045: 38608045
101SCN5ANM_000335.4(SCN5A): c.3705G> T (p.Lys1235Asn)single nucleotide variantPathogenicrs199473208GRCh37Chr 3, 38608032: 38608032
102SCN5ANM_000335.4(SCN5A): c.3713T> C (p.Leu1238Pro)single nucleotide variantPathogenicrs199473210GRCh37Chr 3, 38608024: 38608024
103SCN5ANM_198056.2(SCN5A): c.3718G> C (p.Glu1240Gln)single nucleotide variantPathogenicrs199473211GRCh37Chr 3, 38608022: 38608022
104SCN5ANM_000335.4(SCN5A): c.3724G> A (p.Asp1242Asn)single nucleotide variantPathogenicrs199473599GRCh37Chr 3, 38608013: 38608013
105SCN5ANM_000335.4(SCN5A): c.3743T> A (p.Val1248Asp)single nucleotide variantPathogenicrs199473213GRCh37Chr 3, 38607994: 38607994
106SCN5ANM_000335.4(SCN5A): c.3755A> G (p.Glu1252Gly)single nucleotide variantPathogenicrs199473214GRCh37Chr 3, 38607982: 38607982
107SCN5ANM_000335.4(SCN5A): c.376A> G (p.Lys126Glu)single nucleotide variantPathogenicrs185492581GRCh37Chr 3, 38671818: 38671818
108SCN5ANM_000335.4(SCN5A): c.3810G> C (p.Trp1270Cys)single nucleotide variantPathogenicrs199473601GRCh37Chr 3, 38607927: 38607927
109SCN5ANM_000335.4(SCN5A): c.3860C> G (p.Ala1287Gly)single nucleotide variantPathogenicrs199473217GRCh37Chr 3, 38604006: 38604006
110SCN5ANM_000335.4(SCN5A): c.3929T> C (p.Leu1310Pro)single nucleotide variantPathogenicrs199473219GRCh37Chr 3, 38603937: 38603937
111SCN5ANM_198056.2(SCN5A): c.3956G> T (p.Gly1319Val)single nucleotide variantLikely pathogenic, Pathogenicrs199473220GRCh37Chr 3, 38603913: 38603913
112SCN5ANM_000335.4(SCN5A): c.3965T> G (p.Val1322Gly)single nucleotide variantPathogenicrs199473221GRCh37Chr 3, 38601915: 38601915
113SCN5ANM_198056.2(SCN5A): c.3995C> T (p.Pro1332Leu)single nucleotide variantPathogenicrs199473225GRCh37Chr 3, 38601888: 38601888
114SCN5ANM_000335.4(SCN5A): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs199473550GRCh37Chr 3, 38674796: 38674796
115SCN5ANM_198056.2(SCN5A): c.4018G> A (p.Val1340Ile)single nucleotide variantPathogenicrs199473605GRCh37Chr 3, 38601865: 38601865
116SCN5ANM_000335.4(SCN5A): c.4027T> C (p.Phe1343Leu)single nucleotide variantPathogenicrs199473228GRCh37Chr 3, 38601853: 38601853
117SCN5ANM_000335.4(SCN5A): c.4028T> C (p.Phe1343Ser)single nucleotide variantPathogenicrs199473229GRCh37Chr 3, 38601852: 38601852
118SCN5ANM_000335.4(SCN5A): c.4032G> T (p.Trp1344Cys)single nucleotide variantPathogenicrs199473606GRCh37Chr 3, 38601848: 38601848
119SCN5ANM_000335.4(SCN5A): c.4033C> A (p.Leu1345Ile)single nucleotide variantPathogenicrs199473230GRCh37Chr 3, 38601847: 38601847
120SCN5ANM_000335.4(SCN5A): c.4034T> C (p.Leu1345Pro)single nucleotide variantPathogenicrs199473231GRCh37Chr 3, 38601846: 38601846
121SCN5ANM_000335.4(SCN5A): c.4046T> C (p.Ile1349Thr)single nucleotide variantPathogenicrs199473607GRCh37Chr 3, 38601834: 38601834
122SCN5ANM_000335.4(SCN5A): c.4049T> G (p.Met1350Arg)single nucleotide variantPathogenicrs199473232GRCh37Chr 3, 38601831: 38601831
123SCN5ANM_198056.2(SCN5A): c.4057G> A (p.Val1353Met)single nucleotide variantPathogenicrs199473233GRCh37Chr 3, 38601826: 38601826
124SCN5ANM_000335.4(SCN5A): c.4069G> T (p.Gly1357Trp)single nucleotide variantPathogenicrs199473234GRCh37Chr 3, 38601811: 38601811
125SCN5ANM_000335.4(SCN5A): c.4074G> T (p.Lys1358Asn)single nucleotide variantPathogenicrs199473235GRCh37Chr 3, 38601806: 38601806
126SCN5ANM_000335.4(SCN5A): c.4076T> G (p.Phe1359Cys)single nucleotide variantPathogenicrs199473236GRCh37Chr 3, 38601804: 38601804
127SCN5ANM_000335.4(SCN5A): c.407T> C (p.Leu136Pro)single nucleotide variantPathogenicrs199473557GRCh37Chr 3, 38663966: 38663966
128SCN5ANM_000335.4(SCN5A): c.4085G> A (p.Cys1362Tyr)single nucleotide variantPathogenicrs199473237GRCh37Chr 3, 38601795: 38601795
129SCN5ANM_000335.4(SCN5A): c.4137C> G (p.Asn1379Lys)single nucleotide variantPathogenicrs199473238GRCh37Chr 3, 38601743: 38601743
130SCN5ANM_000335.4(SCN5A): c.4142G> T (p.Ser1381Ile)single nucleotide variantPathogenicrs199473608GRCh37Chr 3, 38601738: 38601738
131SCN5ANM_000335.4(SCN5A): c.4210G> A (p.Val1404Met)single nucleotide variantPathogenicrs199473239GRCh37Chr 3, 38601670: 38601670
132SCN5ANM_000335.4(SCN5A): c.4210G> C (p.Val1404Leu)single nucleotide variantPathogenicrs199473239GRCh37Chr 3, 38601670: 38601670
133SCN5ANM_000335.4(SCN5A): c.4213G> A (p.Gly1405Arg)single nucleotide variantPathogenicrs199473240GRCh37Chr 3, 38601667: 38601667
134SCN5ANM_198056.2(SCN5A): c.4217G> A (p.Gly1406Glu)single nucleotide variantPathogenicrs199473609GRCh37Chr 3, 38601666: 38601666
135SCN5ANM_000335.4(SCN5A): c.4223A> G (p.Tyr1408Cys)single nucleotide variantPathogenicrs199473610GRCh37Chr 3, 38601657: 38601657
136SCN5ANM_000335.4(SCN5A): c.4231C> T (p.Leu1411Phe)single nucleotide variantPathogenicrs199473241GRCh37Chr 3, 38601649: 38601649
137SCN5ANM_000335.4(SCN5A): c.4252A> G (p.Lys1418Glu)single nucleotide variantPathogenicrs199473242GRCh37Chr 3, 38598766: 38598766
138SCN5ANM_000335.4(SCN5A): c.4255G> C (p.Gly1419Arg)single nucleotide variantPathogenicrs199473611GRCh37Chr 3, 38598763: 38598763
139SCN5ANM_000335.4(SCN5A): c.4276G> T (p.Ala1426Ser)single nucleotide variantPathogenicrs199473244GRCh37Chr 3, 38598742: 38598742
140SCN5ANM_000335.4(SCN5A): c.4280C> T (p.Ala1427Val)single nucleotide variantPathogenicrs199473612GRCh37Chr 3, 38598738: 38598738
141SCN5ANM_000335.4(SCN5A): c.4291A> G (p.Arg1431Gly)single nucleotide variantPathogenicrs199473245GRCh37Chr 3, 38598727: 38598727
142SCN5ANM_000335.4(SCN5A): c.4295G> T (p.Gly1432Val)single nucleotide variantPathogenicrs199473247GRCh37Chr 3, 38598723: 38598723
143SCN5ANM_000335.4(SCN5A): c.4310C> T (p.Pro1437Leu)single nucleotide variantPathogenicrs199473248GRCh37Chr 3, 38598056: 38598056
144SCN5ANM_000335.4(SCN5A): c.4318G> C (p.Glu1440Gln)single nucleotide variantPathogenicrs199473249GRCh37Chr 3, 38598048: 38598048
145SCN5ANM_198056.2(SCN5A): c.4342A> C (p.Ile1448Leu)single nucleotide variantLikely pathogenic, Pathogenicrs199473250GRCh37Chr 3, 38598027: 38598027
146SCN5ANM_000335.4(SCN5A): c.4340T> C (p.Ile1447Thr)single nucleotide variantPathogenicrs199473251GRCh37Chr 3, 38598026: 38598026
147SCN5ANM_198056.2(SCN5A): c.4346A> G (p.Tyr1449Cys)single nucleotide variantPathogenicrs199473613GRCh37Chr 3, 38598023: 38598023
148SCN5ANM_000335.4(SCN5A): c.4349T> A (p.Val1450Asp)single nucleotide variantPathogenicrs199473252GRCh37Chr 3, 38598017: 38598017
149SCN5ANM_000335.4(SCN5A): c.436G> A (p.Val146Met)single nucleotide variantPathogenicrs199473061GRCh37Chr 3, 38663937: 38663937
150SCN5ANM_000335.4(SCN5A): c.4384A> T (p.Asn1462Tyr)single nucleotide variantPathogenicrs199473614GRCh37Chr 3, 38597982: 38597982
151SCN5ANM_000335.4(SCN5A): c.4399G> T (p.Val1467Phe)single nucleotide variantPathogenicrs199473254GRCh37Chr 3, 38597967: 38597967
152SCN5ANM_000335.4(SCN5A): c.4477T> A (p.Tyr1493Asn)single nucleotide variantPathogenicrs199473261GRCh37Chr 3, 38597209: 38597209
153SCN5ANM_000335.4(SCN5A): c.4498C> G (p.Leu1500Val)single nucleotide variantPathogenicrs199473266GRCh37Chr 3, 38597188: 38597188
154SCN5ANM_000335.4(SCN5A): c.4501G> A (p.Gly1501Ser)single nucleotide variantPathogenicrs199473267GRCh37Chr 3, 38597185: 38597185
155SCN5ANM_000335.4(SCN5A): c.4559T> A (p.Ile1520Lys)single nucleotide variantPathogenicrs199473617GRCh37Chr 3, 38596021: 38596021
156SCN5ANM_000335.4(SCN5A): c.4570G> A (p.Val1524Met)single nucleotide variantPathogenicrs199473269GRCh37Chr 3, 38596010: 38596010
157SCN5ANM_000335.4(SCN5A): c.4577A> G (p.Lys1526Arg)single nucleotide variantPathogenicrs199473270GRCh37Chr 3, 38596003: 38596003
158SCN5ANM_000335.4(SCN5A): c.4639G> A (p.Glu1547Lys)single nucleotide variantPathogenicrs199473271GRCh37Chr 3, 38595941: 38595941
159SCN5ANM_000335.4(SCN5A): c.4654A> C (p.Ser1552Arg)single nucleotide variantPathogenicrs199473272GRCh37Chr 3, 38595926: 38595926
160SCN5ANM_000335.4(SCN5A): c.4702G> C (p.Ala1568Pro)single nucleotide variantPathogenicrs199473273GRCh37Chr 3, 38595878: 38595878
161SCN5ANM_000335.4(SCN5A): c.4709T> G (p.Phe1570Cys)single nucleotide variantPathogenicrs199473274GRCh37Chr 3, 38595871: 38595871
162SCN5ANM_000335.4(SCN5A): c.4717G> A (p.Glu1573Lys)single nucleotide variantPathogenicrs199473620GRCh37Chr 3, 38595863: 38595863
163SCN5ANM_000335.4(SCN5A): c.4742T> C (p.Leu1581Pro)single nucleotide variantPathogenicrs199473275GRCh37Chr 3, 38595838: 38595838
164SCN5ANM_198056.2(SCN5A): c.4747C> T (p.Arg1583Cys)single nucleotide variantLikely pathogenic, Pathogenicrs45514691GRCh37Chr 3, 38595836: 38595836
165SCN5ANM_000335.4(SCN5A): c.4745G> A (p.Arg1582His)single nucleotide variantPathogenicrs199473621GRCh37Chr 3, 38595835: 38595835
166SCN5ANM_198056.2(SCN5A): c.4786T> A (p.Phe1596Ile)single nucleotide variantPathogenicrs199473278GRCh37Chr 3, 38595797: 38595797
167SCN5ANM_198056.2(SCN5A): c.4810G> A (p.Val1604Met)single nucleotide variantPathogenicrs199473280GRCh37Chr 3, 38595773: 38595773
168SCN5ANM_000335.4(SCN5A): c.481G> A (p.Glu161Lys)single nucleotide variantPathogenicrs199473062GRCh37Chr 3, 38663892: 38663892
169SCN5ANM_000335.4(SCN5A): c.481G> C (p.Glu161Gln)single nucleotide variantPathogenicrs199473062GRCh37Chr 3, 38663892: 38663892
170SCN5ANM_000335.4(SCN5A): c.4835A> T (p.Gln1612Leu)single nucleotide variantPathogenicrs199473281GRCh37Chr 3, 38593025: 38593025
171SCN5ANM_198056.2(SCN5A): c.4859C> T (p.Thr1620Met)single nucleotide variantPathogenicrs199473282GRCh37Chr 3, 38593004: 38593004
172SCN5ANM_000335.4(SCN5A): c.4882C> G (p.Arg1628Gly)single nucleotide variantPathogenicrs199473284GRCh37Chr 3, 38592978: 38592978
173SCN5ANM_000335.4(SCN5A): c.4883G> A (p.Arg1628Gln)single nucleotide variantPathogenicrs199473623GRCh37Chr 3, 38592977: 38592977
174SCN5ANM_000335.4(SCN5A): c.4922G> A (p.Gly1641Glu)single nucleotide variantPathogenicrs199473624GRCh37Chr 3, 38592938: 38592938
175SCN5ANM_000335.4(SCN5A): c.4943C> T (p.Ala1648Val)single nucleotide variantPathogenicrs199473289GRCh37Chr 3, 38592917: 38592917
176SCN5ANM_198056.2(SCN5A): c.4978A> G (p.Ile1660Val)single nucleotide variantLikely pathogenic, Pathogenicrs199473625GRCh37Chr 3, 38592885: 38592885
177SCN5ANM_000335.4(SCN5A): c.4978G> C (p.Gly1660Arg)single nucleotide variantPathogenicrs199473292GRCh37Chr 3, 38592882: 38592882
178SCN5ANM_000335.4(SCN5A): c.4G> A (p.Ala2Thr)single nucleotide variantPathogenicrs199473042GRCh37Chr 3, 38674795: 38674795
179SCN5ANM_000335.4(SCN5A): c.5012C> A (p.Ser1671Tyr)single nucleotide variantPathogenicrs199473626GRCh37Chr 3, 38592848: 38592848
180SCN5ANM_198056.2(SCN5A): c.5038G> A (p.Ala1680Thr)single nucleotide variantPathogenicrs199473294GRCh37Chr 3, 38592825: 38592825
181SCN5ANM_000335.4(SCN5A): c.5089G> A (p.Ala1697Thr)single nucleotide variantPathogenicrs199473295GRCh37Chr 3, 38592771: 38592771
182SCN5ANM_000335.4(SCN5A): c.5115G> C (p.Gln1705His)single nucleotide variantPathogenicrs199473296GRCh37Chr 3, 38592745: 38592745
183SCN5ANM_000335.4(SCN5A): c.5123C> G (p.Thr1708Arg)single nucleotide variantPathogenicrs199473297GRCh37Chr 3, 38592737: 38592737
184SCN5ANM_198056.2(SCN5A): c.5126C> T (p.Thr1709Met)single nucleotide variantPathogenicrs199473297GRCh37Chr 3, 38592737: 38592737
185SCN5ANM_000335.4(SCN5A): c.5131G> A (p.Gly1711Ser)single nucleotide variantPathogenicrs199473298GRCh37Chr 3, 38592729: 38592729
186SCN5ANM_000335.4(SCN5A): c.5138A> G (p.Asp1713Gly)single nucleotide variantPathogenicrs199473628GRCh37Chr 3, 38592722: 38592722
187SCN5ANM_000335.4(SCN5A): c.5161A> G (p.Asn1721Asp)single nucleotide variantPathogenicrs199473299GRCh37Chr 3, 38592699: 38592699
188SCN5ANM_000335.4(SCN5A): c.5179T> C (p.Cys1727Arg)single nucleotide variantPathogenicrs199473302GRCh37Chr 3, 38592681: 38592681
189SCN5ANM_000335.4(SCN5A): c.5181C> G (p.Cys1727Trp)single nucleotide variantPathogenicrs193922726GRCh37Chr 3, 38592679: 38592679
190SCN5ANM_000335.4(SCN5A): c.5215G> A (p.Gly1739Arg)single nucleotide variantPathogenicrs199473304GRCh37Chr 3, 38592645: 38592645
191SCN5ANM_000335.4(SCN5A): c.5224G> A (p.Gly1742Arg)single nucleotide variantLikely pathogenic, Pathogenicrs199473305GRCh37Chr 3, 38592636: 38592636
192SCN5ANM_000335.4(SCN5A): c.5225G> A (p.Gly1742Glu)single nucleotide variantPathogenicrs199473629GRCh37Chr 3, 38592635: 38592635
193SCN5ANM_000335.4(SCN5A): c.525G> C (p.Lys175Asn)single nucleotide variantPathogenicrs199473063GRCh37Chr 3, 38662420: 38662420
194SCN5ANM_000335.4(SCN5A): c.5287G> T (p.Val1763Phe)single nucleotide variantPathogenicrs199473309GRCh37Chr 3, 38592573: 38592573
195SCN5ANM_000335.4(SCN5A): c.5318A> G (p.Asn1773Ser)single nucleotide variantPathogenicrs199473313GRCh37Chr 3, 38592542: 38592542
196SCN5ANM_000335.4(SCN5A): c.5333C> T (p.Thr1778Met)single nucleotide variantPathogenicrs199473634GRCh37Chr 3, 38592527: 38592527
197SCN5ANM_000335.4(SCN5A): c.533C> G (p.Ala178Gly)single nucleotide variantPathogenicrs199473065GRCh37Chr 3, 38662412: 38662412
198SCN5ANM_000335.4(SCN5A): c.544T> C (p.Cys182Arg)single nucleotide variantPathogenicrs199473066GRCh37Chr 3, 38662401: 38662401
199SCN5ANM_000335.4(SCN5A): c.5546G> C (p.Cys1849Ser)single nucleotide variantPathogenicrs199473322GRCh37Chr 3, 38592314: 38592314
200SCN5ANM_000335.4(SCN5A): c.554C> T (p.Ala185Val)single nucleotide variantPathogenicrs199473067GRCh37Chr 3, 38662391: 38662391
201SCN5ANM_000335.4(SCN5A): c.5578G> A (p.Val1860Ile)single nucleotide variantPathogenicrs199473636GRCh37Chr 3, 38592282: 38592282
202SCN5ANM_000335.4(SCN5A): c.560C> T (p.Thr187Ile)single nucleotide variantPathogenicrs199473558GRCh37Chr 3, 38662385: 38662385
203SCN5ANM_000335.4(SCN5A): c.5613G> C (p.Lys1871Asn)single nucleotide variantPathogenicrs199473323GRCh37Chr 3, 38592247: 38592247
204SCN5ANM_000335.4(SCN5A): c.5800G> A (p.Gly1934Ser)single nucleotide variantPathogenicrs199473637GRCh37Chr 3, 38592060: 38592060
205SCN5ANM_198056.2(SCN5A): c.5812G> A (p.Glu1938Lys)single nucleotide variantPathogenicrs199473329GRCh37Chr 3, 38592051: 38592051
206SCN5ANM_000335.4(SCN5A): c.5900T> G (p.Ile1967Ser)single nucleotide variantPathogenicrs199473639GRCh37Chr 3, 38591960: 38591960
207SCN5ANM_000335.4(SCN5A): c.611C> T (p.Ala204Val)single nucleotide variantPathogenicrs199473559GRCh37Chr 3, 38662334: 38662334
208SCN5ANM_000335.4(SCN5A): c.635T> A (p.Leu212Gln)single nucleotide variantPathogenicrs199473070GRCh37Chr 3, 38655302: 38655302
209SCN5ANM_000335.4(SCN5A): c.667G> C (p.Val223Leu)single nucleotide variantPathogenicrs199473560GRCh37Chr 3, 38655270: 38655270
210SCN5ANM_000335.4(SCN5A): c.677C> T (p.Ala226Val)single nucleotide variantPathogenicrs199473561GRCh37Chr 3, 38655260: 38655260
211SCN5ANM_000335.4(SCN5A): c.688A> G (p.Ile230Val)single nucleotide variantPathogenicrs199473074GRCh37Chr 3, 38655249: 38655249
212SCN5ANM_198056.2(SCN5A): c.718G> A (p.Val240Met)single nucleotide variantPathogenicrs199473076GRCh37Chr 3, 38651441: 38651441
213SCN5ANM_000335.4(SCN5A): c.808C> A (p.Gln270Lys)single nucleotide variantPathogenicrs199473079GRCh37Chr 3, 38651351: 38651351
214SCN5ANM_000335.4(SCN5A): c.827T> A (p.Leu276Gln)single nucleotide variantPathogenicrs199473081GRCh37Chr 3, 38651332: 38651332
215SCN5ANM_000335.4(SCN5A): c.832C> G (p.His278Asp)single nucleotide variantPathogenicrs199473562GRCh37Chr 3, 38651327: 38651327
216SCN5ANM_198056.2(SCN5A): c.844C> T (p.Arg282Cys)single nucleotide variantLikely pathogenic, Pathogenicrs199473082GRCh37Chr 3, 38651315: 38651315
217SCN5ANM_198056.2(SCN5A): c.845G> A (p.Arg282His)single nucleotide variantPathogenicrs199473083GRCh37Chr 3, 38651314: 38651314
218SCN5ANM_198056.2(SCN5A): c.871A> C (p.Asn291His)single nucleotide variantPathogenicrs36210420GRCh37Chr 3, 38651288: 38651288
219SCN5ANM_198056.2(SCN5A): c.874G> A (p.Gly292Ser)single nucleotide variantPathogenicrs199473085GRCh37Chr 3, 38651285: 38651285
220SCN5ANM_000335.4(SCN5A): c.880G> A (p.Val294Met)single nucleotide variantPathogenicrs199473086GRCh37Chr 3, 38651279: 38651279
221SCN5ANM_000335.4(SCN5A): c.898G> A (p.Val300Ile)single nucleotide variantPathogenicrs199473088GRCh37Chr 3, 38651261: 38651261
222SCN5ANM_198056.2(SCN5A): c.944T> C (p.Leu315Pro)single nucleotide variantPathogenicrs199473564GRCh37Chr 3, 38649696: 38649696
223SCN5ANM_000335.4(SCN5A): c.951G> C (p.Lys317Asn)single nucleotide variantPathogenicrs199473089GRCh37Chr 3, 38649689: 38649689
224SCN5ANM_000335.4(SCN5A): c.955G> A (p.Gly319Ser)single nucleotide variantPathogenicrs199473090GRCh37Chr 3, 38649685: 38649685
225SCN5ANM_000335.4(SCN5A): c.959C> A (p.Thr320Asn)single nucleotide variantPathogenicrs199473091GRCh37Chr 3, 38649681: 38649681
226SCN5ANM_000335.4(SCN5A): c.974T> G (p.Leu325Arg)single nucleotide variantPathogenicrs199473092GRCh37Chr 3, 38649666: 38649666
227SCN5ANM_198056.2(SCN5A): c.3694C> T (p.Arg1232Trp)single nucleotide variantLikely pathogenic, Pathogenicrs199473207GRCh37Chr 3, 38608046: 38608046
228SCN5ANM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys)single nucleotide variantPathogenicrs137854601GRCh37Chr 3, 38592513: 38592513
229SCN5ANM_000335.4(SCN5A): c.5767G> A (p.Ala1923Thr)single nucleotide variantPathogenicrs137854603GRCh37Chr 3, 38592093: 38592093
230SCN5ANM_198056.2(SCN5A): c.1100G> A (p.Arg367His)single nucleotide variantPathogenicrs28937318GRCh37Chr 3, 38648200: 38648200
231SCN5ANM_000335.4(SCN5A): c.2204C> T (p.Ala735Val)single nucleotide variantPathogenicrs137854611GRCh37Chr 3, 38639278: 38639278
232SCN5ANM_000335.4(SCN5A): c.3575G> A (p.Arg1192Gln)single nucleotide variantPathogenic, risk factorrs41261344GRCh37Chr 3, 38616876: 38616876
233SCN5ANM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg)single nucleotide variantPathogenicrs137854612GRCh37Chr 3, 38601661: 38601661
234SCN5ANM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His)single nucleotide variantPathogenicrs137854615GRCh37Chr 3, 38592480: 38592480
235SCN5ANM_198056.2(SCN5A): c.1535C> T (p.Thr512Ile)single nucleotide variantPathogenicrs199473118GRCh37Chr 3, 38645558: 38645558
236SCN5ANM_000335.4(SCN5A): c.3781G> A (p.Gly1261Ser)single nucleotide variantPathogenicrs137854616GRCh37Chr 3, 38607956: 38607956
237SCN5ANM_001160160.1(SCN5A): c.3820G> A (p.Asp1274Asn)single nucleotide variantPathogenicrs137854618GRCh37Chr 3, 38607917: 38607917

Expression for genes affiliated with Brugada Syndrome

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Search GEO for disease gene expression data for Brugada Syndrome.

Pathways for genes affiliated with Brugada Syndrome

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Pathways related to Brugada Syndrome according to GeneCards Suite gene sharing:

(show all 20)
idSuper pathwaysScoreTop Affiliating Genes
110.1CACNA1C, CACNA2D1, CACNB2
2
Show member pathways
10.1CACNA1C, CACNA2D1, CACNB2
310.1CACNA1C, CACNA2D1, CACNB2
410.0CACNA1C, CACNA2D1, CACNB2, KCNQ1
5
Show member pathways
10.0CACNA1C, CACNA2D1, CACNB2, PKP2
610.0SCN10A, SCN1B, SCN2B, SCN5A
7
Show member pathways
9.8SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
89.8SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
9
Show member pathways
9.8HCN4, KCND3, KCNH2, KCNJ8, KCNQ1
109.7GPD1L, KCNH2, KCNJ8, KCNQ1, SCN3B, SCN5A
11
Show member pathways
9.7CACNA2D1, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
12
Show member pathways
9.6CACNA1C, CACNB2, SCN10A, SCN1B, SCN2B, SCN3B
13
Show member pathways
9.6CACNA1C, CACNA2D1, CACNB2, KCNJ8, KCNQ1, SCN1B
14
Show member pathways
9.5CACNA2D1, CACNB2, HCN4, KCND3, KCNH2, KCNJ8
15
Show member pathways
9.5CACNA1C, CACNA2D1, CACNB2, SCN10A, SCN1B, SCN2B
16
Show member pathways
9.5CACNA1C, CACNA2D1, CACNB2, SCN10A, SCN1B, SCN2B
179.4CACNA1C, CACNB2, KCND3, KCNE2, KCNE3, KCNH2
188.8CACNA1C, CACNB2, HCN4, KCND3, KCNE2, KCNE3
19
Show member pathways
8.8CACNA1C, CACNA2D1, CACNB2, KCND3, KCNE2, KCNE3
20
Show member pathways
8.6CACNA1C, CACNA2D1, CACNB2, KCND3, KCNE2, KCNE3

GO Terms for genes affiliated with Brugada Syndrome

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Cellular components related to Brugada Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1L-type voltage-gated calcium channel complexGO:199045410.8CACNA1C, CACNA2D1, CACNB2
2voltage-gated calcium channel complexGO:000589110.8CACNA1C, CACNA2D1, CACNB2
3T-tubuleGO:003031510.8CACNA2D1, SCN1B, SCN5A
4voltage-gated sodium channel complexGO:000151810.6SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
5Z discGO:003001810.6CACNA1C, SCN3B, SCN5A
6sarcolemmaGO:004238310.4KCND3, KCNJ8, SCN5A, SLMAP
7intercalated discGO:001470410.2PKP2, RANGRF, SCN1B, SCN5A
8voltage-gated potassium channel complexGO:00080769.9KCND3, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1
9plasma membraneGO:00058868.3CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, KCND3

Biological processes related to Brugada Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 53)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization during Purkinje myocyte cell action potentialGO:008604710.9SCN1B, SCN5A
2negative regulation of voltage-gated potassium channel activityGO:190381710.9KCNE2, KCNE3
3bundle of His cell action potentialGO:008604310.9SCN10A, SCN5A
4positive regulation of voltage-gated calcium channel activityGO:190138710.8KCNE2, KCNE3
5atrial cardiac muscle cell action potentialGO:008601410.8KCNQ1, SCN3B
6potassium ion export across plasma membraneGO:009762310.8KCNH2, KCNQ1
7positive regulation of potassium ion transmembrane transportGO:190138110.8KCNH2, KCNQ1
8negative regulation of delayed rectifier potassium channel activityGO:190226010.8KCNE2, KCNE3
9positive regulation of protein localization to cell surfaceGO:200001010.8GPD1L, RANGRF
10regulation of atrial cardiac muscle cell membrane repolarizationGO:006037210.8KCNQ1, SCN5A
11AV node cell action potentialGO:008601610.8SCN10A, SCN5A
12membrane depolarization during atrial cardiac muscle cell action potentialGO:009891210.8CACNA1C, CACNB2
13positive regulation of high voltage-gated calcium channel activityGO:190184310.8CACNA2D1, CACNB2
14calcium ion transport into cytosolGO:006040210.8CACNA1C, CACNA2D1
15calcium ion transmembrane transport via high voltage-gated calcium channelGO:006157710.8CACNA1C, CACNA2D1
16membrane repolarization during cardiac muscle cell action potentialGO:008601310.7KCNH2, KCNQ1
17cell communication by electrical coupling involved in cardiac conductionGO:008606410.7CACNA1C, PKP2
18SA node cell action potentialGO:008601510.7HCN4, SCN3B, SCN5A
19regulation of membrane depolarizationGO:000325410.7HCN4, RANGRF
20membrane depolarization during AV node cell action potentialGO:008604510.7CACNA1C, CACNB2, SCN5A
21membrane repolarization during action potentialGO:008601110.7KCNE2, KCNH2, KCNQ1
22membrane repolarization during ventricular cardiac muscle cell action potentialGO:009891510.7KCNE2, KCNH2, KCNQ1
23regulation of ventricular cardiac muscle cell membrane depolarizationGO:006037310.6GPD1L, SCN3B, SCN5A
24membrane depolarizationGO:005189910.6SCN1B, SCN3B, SCN5A
25membrane repolarizationGO:008600910.6KCND3, KCNE2, KCNQ1
26potassium ion exportGO:007143510.5KCND3, KCNE2, KCNH2, KCNQ1
27response to pyrethroidGO:004668410.5SCN1B, SCN2B
28membrane depolarization during action potentialGO:008601010.5KCNH2, SCN10A, SCN3B, SCN5A
29sodium ion transportGO:000681410.5SCN10A, SCN3B, SCN5A
30regulation of sodium ion transmembrane transportGO:190230510.5RANGRF, SCN5A
31positive regulation of heart rateGO:001046010.4KCNQ1, SCN3B, TRPM4
32regulation of atrial cardiac muscle cell membrane depolarizationGO:006037110.4SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
33regulation of membrane repolarizationGO:006030610.4KCNE2, KCNE3, KCNH2, KCNQ1
34regulation of sodium ion transmembrane transporter activityGO:200064910.3GPD1L, RANGRF, SCN1B, SCN2B, SCN3B
35membrane depolarization during cardiac muscle cell action potentialGO:008601210.3CACNA1C, CACNA2D1, SCN1B, SCN2B, SCN3B, SCN5A
36regulation of ion transmembrane transportGO:003476510.2HCN4, KCND3, KCNJ8, SCN10A
37positive regulation of sodium ion transportGO:001076510.2GPD1L, PKP2, SCN1B, SCN3B, SCN5A
38regulation of ventricular cardiac muscle cell action potentialGO:009891110.2CACNA1C, PKP2
39regulation of membrane potentialGO:004239110.2HCN4, KCNH2, RANGRF
40regulation of postsynaptic membrane potentialGO:006007810.2HCN4, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
41potassium ion transmembrane transportGO:007180510.1HCN4, KCNE2, KCNE3, KCNH2, KCNQ1
42regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.1CACNA2D1, KCNE2, KCNH2, KCNQ1, SCN1B, SCN5A
43sodium ion transmembrane transportGO:003572510.0HCN4, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
44ventricular cardiac muscle cell action potentialGO:008600510.0GPD1L, KCNE2, KCNH2, KCNQ1, PKP2, SCN3B
45cardiac muscle cell action potential involved in contractionGO:00860029.9CACNA1C, CACNA2D1, KCNE2, PKP2, SCN1B, SCN2B
46cardiac muscle contractionGO:00600489.9KCNH2, KCNQ1, SCN1B, SCN2B, SCN3B, SCN5A
47regulation of heart rateGO:00020279.8GPD1L, HCN4, RANGRF, SCN10A, SCN5A
48cellular response to drugGO:00356909.7KCNE2, KCNH2, KCNQ1
49cardiac conductionGO:00613379.6CACNA1C, CACNA2D1, CACNB2, KCND3, KCNE2, KCNH2
50regulation of heart rate by cardiac conductionGO:00860918.8CACNA1C, CACNA2D1, CACNB2, HCN4, KCNE2, KCNH2

Molecular functions related to Brugada Syndrome according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activity involved in Purkinje myocyte action potentialGO:008606210.8SCN1B, SCN5A
2voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:008600810.8KCNH2, KCNQ1
3voltage-gated calcium channel activity involved in AV node cell action potentialGO:008605610.7CACNA1C, CACNB2
4high voltage-gated calcium channel activityGO:000833110.7CACNA1C, CACNB2
5inward rectifier potassium channel activityGO:000524210.6KCNE2, KCNH2, KCNJ8
6voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:190228210.6KCNE2, KCNH2, KCNQ1
7voltage-gated calcium channel activity involved in cardiac muscle cell action potentialGO:008600710.6CACNA1C, CACNA2D1, CACNB2
8voltage-gated sodium channel activity involved in cardiac muscle cell action potentialGO:008600610.6SCN1B, SCN2B, SCN3B, SCN5A
9voltage-gated calcium channel activityGO:000524510.6CACNA1C, CACNA2D1, CACNB2
10delayed rectifier potassium channel activityGO:000525110.5KCND3, KCNE2, KCNH2, KCNQ1
11voltage-gated sodium channel activityGO:000524810.2HCN4, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
12sodium channel regulator activityGO:001708010.1GPD1L, PKP2, RANGRF, SCN1B, SCN2B, SCN3B
13calmodulin bindingGO:000551610.1CACNA1C, KCNQ1, SCN5A, TRPM4
14voltage-gated potassium channel activityGO:000524910.0HCN4, KCNE2, KCNE3, KCNH2, KCNQ1
15scaffold protein bindingGO:009711010.0KCNH2, KCNQ1, SCN5A
16ion channel bindingGO:00443259.1GPD1L, KCND3, KCNE2, KCNE3, KCNQ1, PKP2

Sources for Brugada Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet