MCID: BRG001
MIFTS: 52

Brugada Syndrome malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

Aliases & Classifications for Brugada Syndrome

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Sources:
10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 37MESH via Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Brugada Syndrome:

Name: Brugada Syndrome 10 21 45 22 23 47 12 51 24 65 36
Sudden Unexpected Nocturnal Death Syndrome 21 45 22 23 65
Idiopathic Ventricular Fibrillation, Brugada Type 23 51
Sudden Unexplained Nocturnal Death Syndrome 51 65
Pokkuri Death Syndrome 23 51
Bangungut 23 51
 
Sunds 23 51
Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome 45
Sudden Unexplained Death Syndrome 23
Dream Disease 51
Suds 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
brugada syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult


External Ids:

Disease Ontology10 DOID:0050451
MeSH36 D053840
Orphanet51 130
MESH via Orphanet37 D053840
ICD10 via Orphanet28 I49.8
UMLS via Orphanet66 C1142166

Summaries for Brugada Syndrome

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NIH Rare Diseases:45 Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). signs and symptoms usually develop in adulthood and include ventricular arrhythmia that can cause fainting, seizures, difficulty breathing, or sudden death. these complications often occur when an affected person is resting or asleep. brugada syndrome is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes (most commonly the scn5a gene). in many cases, the genetic cause is not identified. there have also been reports of acquired brugada syndrome which have been associated with adverse reactions to certain drugs or other substances. treatment may include use of an implantable cardioverter defibrillator (icd) in people with a history of fainting or heart attack. last updated: 4/23/2014

MalaCards based summary: Brugada Syndrome, also known as sudden unexpected nocturnal death syndrome, is related to brugada syndrome 1 and brugada syndrome 2. An important gene associated with Brugada Syndrome is SCN5A (Sodium Channel, Voltage Gated, Type V Alpha Subunit), and among its related pathways are Netrin Signaling and Cardiac muscle contraction. Affiliated tissues include heart, testes and brain, and related mouse phenotypes are muscle and cardiovascular system.

Disease Ontology:10 A heart conduction disease that is characterized by abnormal electrocardiogram (ecg) findings and an increased risk of sudden cardiac death.

Genetics Home Reference:23 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.

GeneReviews summary for brugada

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 106)
idRelated DiseaseScoreTop Affiliating Genes
1brugada syndrome 131.4CACNA1C, KCNE3, SCN3B, SCN5A
2brugada syndrome 231.3GPD1L, SCN5A
3sudden infant death syndrome30.2GPD1L, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN2B
4brugada syndrome 310.7
5long qt syndrome10.7
6atrial fibrillation10.6
7brugada syndrome 410.6
8right bundle branch block10.6
9syncope10.6
10brugada syndrome 710.6
11brugada syndrome 610.6
12brugada syndrome 510.6
13brugada syndrome 810.5
14brugada syndrome 910.5
15cardiomyopathy10.5
16adult syndrome10.4
17wolff-parkinson-white syndrome10.4
18sick sinus syndrome10.4
19hypokalemia10.4
20sudden cardiac death10.4
21coronary heart disease 310.3
22single ventricular heart10.3
23arrhythmogenic right ventricular cardiomyopathy10.3
24cardiac arrest10.3
25marburg acute multiple sclerosis10.3CACNA1C, SCN5A
26ventricular fibrillation, familial, 110.3CACNA1C, SCN5A
27arteriovenous malformation10.3HCN4, RANGRF, SCN5A
28familial pulmonary arterial hypertension leucopenia and atrial septal defect10.3SCN1B, SCN5A, TRPM4
29syphilitic spinal sclerosis10.3KCNH2, KCNQ1, SCN5A
30keratosis palmoplantaris striata10.3CACNA2D1, KCNH2, KCNQ1
31timothy syndrome10.3CACNA1C, CACNA2D1, CACNB2, KCNQ1
32atrial fibrillation, familial, 1310.3SCN1B, SCN5A
33cardiac conduction defect10.3
34short qt syndrome10.3
35ischemia10.3
36catecholaminergic polymorphic ventricular tachycardia10.3
37scn5a-related brugada syndrome10.3
38autonomic dysfunction10.3
39osteochondritis of tarsal/metatarsal bone10.3CACNA1C, KCNH2, KCNQ1, SCN5A
40skin benign neoplasm10.3HCN4, SCN5A
41sulfate transporter-related osteochondrodysplasia10.3KCNH2, KCNQ1, SCN5A
42jervell and lange-nielsen syndrome10.3CACNA1C, KCNH2, KCNQ1, SCN5A
43atrophic glossitis10.2HCN4, KCNH2, KCNQ1, SCN5A
44long qt syndrome 110.2KCNH2, KCNQ1, SCN5A
45atrial heart septal defect10.2HCN4, KCNQ1, SCN1B, SCN2B, SCN3B, SCN5A
46intermediate coronary syndrome10.2
47congenital heart disease10.2
48pneumonia10.2
49sleep disorder10.2
50spinocerebellar ataxia10.2

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):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ProcainamideapprovedPhase 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 Hydrochloride
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
2
Ajmalineapproved, NutraceuticalPhase 424360-12-7441080
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
3LorajminePhase 42
4
QuinidineapprovedPhase 2, Phase 34156-54-2441074
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
5Quinidine gluconatePhase 2, Phase 341
6HydroquinidinePhase 2, Phase 32

Interventional clinical trials:

(show all 14)
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
13Investigating Hereditary Cardiac Disease by Reprogramming Skin Cells to Heart MuscleActive, not recruitingNCT01865981
14Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac ArrhythmiasEnrolling by invitationNCT02413450

Search NIH Clinical Center for Brugada Syndrome


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 Syndrome22 24 SCN5A

Anatomical Context for Brugada Syndrome

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MalaCards organs/tissues related to Brugada Syndrome:

33
Heart, Testes, Brain, Eye, Myeloid, Skin

Animal Models for Brugada Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Brugada Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.3CACNA1C, CACNA2D1, HCN4, KCNH2, KCNQ1, PKP2
2MP:00053858.8CACNA1C, CACNA2D1, CACNB2, HCN4, KCND3, KCNH2

Publications for Brugada Syndrome

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Articles related to Brugada Syndrome:

(show top 50)    (show all 660)
idTitleAuthorsYear
1
Fibrosis, Connexin-43, and Conduction Abnormalities in the Brugada Syndrome. (26516000)
2015
2
Multiple lithium-dependent Brugada syndrome unmasking events in a bipolar patient. (25678966)
2015
3
Management of Brugada Syndrome: A 33-Year Experience Using Electrophysiologically-Guided Therapy with Class 1A Antiarrhythmic Drugs. (26354972)
2015
4
VERP in Brugada syndrome - Very effective risk predictor? (25731832)
2015
5
Usefulness of patient's history and non-invasive electrocardiographic parameters in prediction of ajmaline test results in patients with suspected Brugada syndrome. (25395941)
2014
6
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. (24136861)
2014
7
Clinical Characteristics, Management and Prognosis of Elderly Patients with Brugada Syndrome. (24400668)
2014
8
Clinic and genetic polymorphism of Brugada syndrome in Russian patients, caused by mutation in SCN5A gene]. (23503384)
2013
9
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
10
Brugada burden in Brugada syndrome: the way to go in risk stratification? (23583498)
2013
11
Clinical and electrocardiographic predictors of positive response to the intravenous sodium channel blockers in patients suspected of the Brugada syndrome. (21917337)
2013
12
Ventricular fibrillation with a 2:1 conduction block over the right ventricle in a Brugada syndrome patient. (24065342)
2013
13
Very prolonged episode of self-terminating ventricular fibrillation in a patient with Brugada syndrome. (24267814)
2013
14
Brugada syndrome in a family with a high mortality rate: a case report. (23506330)
2013
15
Drug-induced brugada syndrome by noncardiac agents. (23992531)
2013
16
Haemochromatosis, sinus node dysfunction and Brugada syndrome--a mAcnage a trois of findings in one and the same patient: coincidence or causality? (22641986)
2012
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
Comparison of late potentials for 24 hours between Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy using a novel signal-averaging system based on Holter ECG. (22665699)
2012
20
Brugada syndrome phenotype cardiac arrest in a young patient unmasked during the acute phase of amiodarone infusion: disclosure and aggravation of Brugada electrocardiographic pattern. (22425290)
2012
21
Coexisting early repolarization pattern and Brugada syndrome: recognition of potentially overlapping entities. (22178622)
2012
22
An atypical case of Brugada syndrome. (22008499)
2011
23
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
24
Anesthetic management of patients with Brugada syndrome: a case series and literature review. (21698509)
2011
25
Role of the R1135H KCNH2 mutation in Brugada syndrome. (19174314)
2010
26
Local conduction block of the atria by premature stimulus in a patient with Brugada syndrome. (19698955)
2010
27
Brugada syndrome: Controversies in Risk stratification and Management. (20930958)
2010
28
Ventricular flutter in a child with Brugada syndrome. (20371143)
2010
29
Mode of onset of ventricular fibrillation in patients with early repolarization pattern vs. Brugada syndrome. (19880418)
2010
30
Structural myocardial abnormalities in asymptomatic family members with Brugada syndrome and SCN5A gene mutation. (19411664)
2009
31
Predictors of atrial tachyarrhythmias in subjects with type 1 ECG pattern of Brugada syndrome. (19335860)
2009
32
A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease. (19829766)
2009
33
Wolff-Parkinson-White syndrome associated with Brugada syndrome. (19513016)
2009
34
Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org). (19716089)
2009
35
Repolarization measurement in Brugada syndrome. (18702975)
2008
36
Risk assessment in Brugada-syndrome: the way back to the surface ECG. (18284490)
2008
37
A post-QRS potential in Brugada syndrome: its relation to electrocardiographic pattern and possible genesis. (18436126)
2008
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
Developmental aspects of long QT syndrome type 3 and Brugada syndrome on the basis of a single SCN5A mutation in childhood. (16022964)
2005
41
Mechanisms of disease: current understanding and future challenges in Brugada syndrome. (16119703)
2005
42
Genetic analysis of Brugada syndrome in Western Japan: two novel mutations. (15277732)
2004
43
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
44
Electrical alternans in long QT syndrome resembling a Brugada syndrome pattern. (14516346)
2003
45
Brugada syndrome with ventricular tachycardia and fibrillation related to hypokalemia. (12520160)
2003
46
Natural history of Brugada syndrome: insights for risk stratification and management. (11901046)
2002
47
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. (11823453)
2002
48
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. (11748104)
2001
49
Brugada Syndrome (20301690)
1993
50
SCN1Bb, atrial fibrillation, and Brugada syndrome: just another brick in the wall a8 (22209948)
.

Variations for Brugada Syndrome

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Clinvar genetic disease variations for Brugada Syndrome:

5 (show all 256)
id Gene Variation Type Significance SNP ID Assembly Location
1CACNB2NM_201590.2(CACNB2): c.32C> T (p.Thr11Ile)single nucleotide variantPathogenicrs587777742GRCh38Chr 10, 18340958: 18340958
2SCN5ANM_000335.4(SCN5A): c.612-2A> Gsingle nucleotide variantLikely pathogenicrs370438420GRCh37Chr 3, 38655327: 38655327
3SCN5ANM_198056.2(SCN5A): c.255delC (p.Phe86Serfs)deletionLikely pathogenicrs727503411GRCh37Chr 3, 38674544: 38674544
4CACNA1CNM_000719.6(CACNA1C): c.1468G> A (p.Gly490Arg)single nucleotide variantPathogenicrs121912775GRCh37Chr 12, 2659186: 2659186
5CACNA1CNM_000719.6(CACNA1C): c.116C> T (p.Ala39Val)single nucleotide variantPathogenicrs121912776GRCh37Chr 12, 2224456: 2224456
6SCN5ANM_198056.2(SCN5A): c.4282G> T (p.Ala1428Ser)single nucleotide variantLikely pathogenicrs200034939GRCh37Chr 3, 38598739: 38598739
7SCN5ANM_198056.2(SCN5A): c.3995delC (p.Pro1332Argfs)deletionPathogenicrs727504801GRCh37Chr 3, 38601888: 38601888
8SCN5ANM_001099404.1(SCN5A): c.1598G> A (p.Arg533His)single nucleotide variantLikely pathogenicrs146848219GRCh38Chr 3, 38604004: 38604004
9SCN5ANM_000335.4(SCN5A): c.3914G> A (p.Arg1305His)single nucleotide variantLikely pathogenicrs730880207GRCh37Chr 3, 38603952: 38603952
10SCN5ANM_198056.2(SCN5A): c.1652C> T (p.Ala551Val)single nucleotide variantLikely pathogenicrs201641342GRCh37Chr 3, 38645441: 38645441
11KCND3NM_004980.4(KCND3): c.1348C> T (p.Leu450Phe)single nucleotide variantPathogenicrs150401343GRCh37Chr 1, 112323335: 112323335
12KCND3KCND3, GLY600ARG (rs149344567)single nucleotide variantPathogenic
13KCND3NM_004980.4(KCND3): c.1174G> A (p.Val392Ile)single nucleotide variantPathogenicrs786205867GRCh37Chr 1, 112329661: 112329661
14SCN5ANM_198056.2(SCN5A): c.820G> A (p.Gly274Ser)single nucleotide variantLikely pathogenicrs794728852GRCh37Chr 3, 38651339: 38651339
15SCN5ANM_198056.2(SCN5A): c.2582_2583delTT (p.Phe861Trpfs)deletionPathogenicrs794728914GRCh38Chr 3, 38585895: 38585896
16SCN5ANM_198056.2(SCN5A): c.4182C> G (p.Tyr1394Ter)single nucleotide variantPathogenicGRCh38Chr 3, 38560210: 38560210
17SCN5ANM_198056.2(SCN5A): c.4845_4847delCTTinsGTA (p.Tyr1615Ter)indelPathogenicGRCh37Chr 3, 38593016: 38593018
18SCN5ANM_198056.2(SCN5A): c.4772G> A (p.Trp1591Ter)single nucleotide variantPathogenicGRCh37Chr 3, 38595811: 38595811
19SCN3BNM_018400.3(SCN3B): c.29T> C (p.Leu10Pro)single nucleotide variantLikely pathogenic, Pathogenicrs121918282GRCh37Chr 11, 123524481: 123524481
20SCN5ANM_000335.4(SCN5A): c.53G> A (p.Arg18Gln)single nucleotide variantPathogenicrs41311087GRCh37Chr 3, 38674746: 38674746
21HCN4HCN4, 4-BP INS, GTGAinsertionPathogenic
22KCNE3NM_005472.4(KCNE3): c.296G> A (p.Arg99His)single nucleotide variantPathogenicrs121908441GRCh37Chr 11, 74168313: 74168313
23CACNA1CNM_000719.6(CACNA1C): c.3343G> A (p.Glu1115Lys)single nucleotide variantPathogenicrs199473391GRCh37Chr 12, 2716283: 2716283
24NM_000719.6(CACNA1C): c.6040G> A (p.Val2014Ile)single nucleotide variantPathogenicrs199473660GRCh37Chr 12, 2797868: 2797868
25CACNA1CNM_000719.6(CACNA1C): c.6388G> A (p.Asp2130Asn)single nucleotide variantPathogenicrs199473392GRCh37Chr 12, 2800336: 2800336
26SCN5ANM_198056.2(SCN5A): c.1007C> T (p.Pro336Leu)single nucleotide variantLikely pathogenic, Pathogenicrs199473093GRCh37Chr 3, 38648293: 38648293
27SCN5ANM_000335.4(SCN5A): c.103G> A (p.Gly35Ser)single nucleotide variantPathogenicrs199473552GRCh37Chr 3, 38674696: 38674696
28SCN5ANM_000335.4(SCN5A): c.1052G> A (p.Gly351Asp)single nucleotide variantPathogenicrs199473095GRCh37Chr 3, 38648248: 38648248
29SCN5ANM_000335.4(SCN5A): c.1052G> T (p.Gly351Val)single nucleotide variantPathogenicrs199473095GRCh37Chr 3, 38648248: 38648248
30SCN5ANM_000335.4(SCN5A): c.1058C> T (p.Thr353Ile)single nucleotide variantPathogenicrs199473096GRCh37Chr 3, 38648242: 38648242
31SCN5ANM_198056.2(SCN5A): c.1066G> A (p.Asp356Asn)single nucleotide variantPathogenicrs199473565GRCh37Chr 3, 38648234: 38648234
32SCN5ANM_000335.4(SCN5A): c.1100G> T (p.Arg367Leu)single nucleotide variantPathogenicrs28937318GRCh37Chr 3, 38648200: 38648200
33SCN5ANM_000335.4(SCN5A): c.1106T> A (p.Met369Lys)single nucleotide variantPathogenicrs199473098GRCh37Chr 3, 38648194: 38648194
34SCN5ANM_000335.4(SCN5A): c.1120T> G (p.Trp374Gly)single nucleotide variantPathogenicrs199473566GRCh37Chr 3, 38648180: 38648180
35SCN5ANM_198056.2(SCN5A): c.1127G> A (p.Arg376His)single nucleotide variantLikely pathogenic, Pathogenicrs199473101GRCh37Chr 3, 38648173: 38648173
36SCN5ANM_000335.4(SCN5A): c.1156G> A (p.Gly386Arg)single nucleotide variantPathogenicrs199473102GRCh37Chr 3, 38647624: 38647624
37SCN5ANM_000335.4(SCN5A): c.1157G> A (p.Gly386Glu)single nucleotide variantPathogenicrs199473567GRCh37Chr 3, 38647623: 38647623
38SCN5ANM_000335.4(SCN5A): c.1186G> C (p.Val396Leu)single nucleotide variantPathogenicrs199473104GRCh37Chr 3, 38647594: 38647594
39SCN5ANM_000335.4(SCN5A): c.1187T> C (p.Val396Ala)single nucleotide variantPathogenicrs199473103GRCh37Chr 3, 38647593: 38647593
40SCN5ANM_000335.4(SCN5A): c.1217A> G (p.Asn406Ser)single nucleotide variantPathogenicrs199473568GRCh37Chr 3, 38647563: 38647563
41SCN5ANM_000335.4(SCN5A): c.1231G> A (p.Val411Met)single nucleotide variantPathogenicrs72549410GRCh37Chr 3, 38647549: 38647549
42SCN5ANM_000335.4(SCN5A): c.1315G> A (p.Glu439Lys)single nucleotide variantPathogenicrs199473570GRCh37Chr 3, 38647465: 38647465
43SCN5ANM_000335.4(SCN5A): c.1502A> G (p.Asp501Gly)single nucleotide variantPathogenicrs199473117GRCh37Chr 3, 38646236: 38646236
44SCN5ANM_000335.4(SCN5A): c.1577G> A (p.Arg526His)single nucleotide variantPathogenicrs45627438GRCh37Chr 3, 38645516: 38645516
45SCN5ANM_198056.2(SCN5A): c.1595T> G (p.Phe532Cys)single nucleotide variantLikely pathogenic, Pathogenicrs199473573GRCh37Chr 3, 38645498: 38645498
46SCN5ANM_000335.4(SCN5A): c.1629T> A (p.Phe543Leu)single nucleotide variantPathogenicrs199473122GRCh37Chr 3, 38645464: 38645464
47SCN5ANM_000335.4(SCN5A): c.1651G> A (p.Ala551Thr)single nucleotide variantPathogenicrs199473574GRCh37Chr 3, 38645442: 38645442
48SCN5ANM_000335.4(SCN5A): c.1654G> A (p.Gly552Arg)single nucleotide variantPathogenicrs3918389GRCh37Chr 3, 38645439: 38645439
49SCN5ANM_000335.4(SCN5A): c.1663G> A (p.Glu555Lys)single nucleotide variantLikely pathogenicrs199473123GRCh37Chr 3, 38645430: 38645430
50SCN5ANM_198056.2(SCN5A): c.1700T> A (p.Leu567Gln)single nucleotide variantPathogenicrs199473124GRCh37Chr 3, 38645393: 38645393
51SCN5ANM_000335.4(SCN5A): c.1756G> A (p.Ala586Thr)single nucleotide variantPathogenicrs199473129GRCh37Chr 3, 38645337: 38645337
52SCN5ANM_000335.4(SCN5A): c.1844G> A (p.Gly615Glu)single nucleotide variantLikely pathogenic, Pathogenicrs12720452GRCh37Chr 3, 38645249: 38645249
53SCN5ANM_000335.4(SCN5A): c.1855C> T (p.Leu619Phe)single nucleotide variantPathogenicrs199473133GRCh37Chr 3, 38645238: 38645238
54SCN5ANM_000335.4(SCN5A): c.1858C> T (p.Arg620Cys)single nucleotide variantPathogenicrs199473577GRCh37Chr 3, 38645235: 38645235
55SCN5ANM_000335.4(SCN5A): c.1895C> T (p.Thr632Met)single nucleotide variantPathogenicrs199473134GRCh37Chr 3, 38640537: 38640537
56SCN5ANM_000335.4(SCN5A): c.1918C> G (p.Pro640Ala)single nucleotide variantPathogenicrs199473137GRCh37Chr 3, 38640514: 38640514
57SCN5ANM_000335.4(SCN5A): c.1981C> T (p.Arg661Trp)single nucleotide variantPathogenicrs199473139GRCh37Chr 3, 38640451: 38640451
58SCN5ANM_000335.4(SCN5A): c.2042A> C (p.His681Pro)single nucleotide variantPathogenicrs199473143GRCh37Chr 3, 38639440: 38639440
59SCN5ANM_000335.4(SCN5A): c.2047T> G (p.Cys683Gly)single nucleotide variantPathogenicrs199473144GRCh37Chr 3, 38639435: 38639435
60SCN5ANM_000335.4(SCN5A): c.210T> G (p.Asn70Lys)single nucleotide variantPathogenicrs199473050GRCh37Chr 3, 38674589: 38674589
61SCN5ANM_000335.4(SCN5A): c.2150C> T (p.Pro717Leu)single nucleotide variantPathogenicrs199473149GRCh37Chr 3, 38639332: 38639332
62SCN5ANM_000335.4(SCN5A): c.2203G> A (p.Ala735Thr)single nucleotide variantPathogenicrs199473151GRCh37Chr 3, 38639279: 38639279
63SCN5ANM_000335.4(SCN5A): c.2204C> A (p.Ala735Glu)single nucleotide variantPathogenicrs137854611GRCh37Chr 3, 38639278: 38639278
64SCN5ANM_000335.4(SCN5A): c.2236G> A (p.Glu746Lys)single nucleotide variantPathogenicrs199473582GRCh37Chr 3, 38639246: 38639246
65SCN5ANM_198056.2(SCN5A): c.2254G> A (p.Gly752Arg)single nucleotide variantLikely pathogenic, Pathogenicrs199473153GRCh37Chr 3, 38639228: 38639228
66SCN5ANM_000335.4(SCN5A): c.2273G> A (p.Gly758Glu)single nucleotide variantPathogenicrs199473154GRCh37Chr 3, 38629054: 38629054
67SCN5ANM_000335.4(SCN5A): c.2291T> G (p.Met764Arg)single nucleotide variantPathogenicrs199473156GRCh37Chr 3, 38629036: 38629036
68SCN5ANM_000335.4(SCN5A): c.2317C> T (p.Pro773Ser)single nucleotide variantPathogenicrs199473158GRCh37Chr 3, 38629010: 38629010
69SCN5ANM_000335.4(SCN5A): c.2365G> A (p.Val789Ile)single nucleotide variantPathogenicrs199473159GRCh37Chr 3, 38628962: 38628962
70SCN5ANM_198056.2(SCN5A): c.2441G> A (p.Arg814Gln)single nucleotide variantPathogenicrs199473584GRCh37Chr 3, 38627528: 38627528
71SCN5ANM_000335.4(SCN5A): c.2504C> T (p.Ser835Leu)single nucleotide variantPathogenicrs199473163GRCh37Chr 3, 38627465: 38627465
72SCN5ANM_000335.4(SCN5A): c.250G> A (p.Asp84Asn)single nucleotide variantPathogenicrs199473051GRCh37Chr 3, 38674549: 38674549
73SCN5ANM_000335.4(SCN5A): c.2516T> C (p.Leu839Pro)single nucleotide variantPathogenicrs199473164GRCh37Chr 3, 38627453: 38627453
74SCN5ANM_000335.4(SCN5A): c.2551T> C (p.Phe851Leu)single nucleotide variantPathogenicrs199473586GRCh37Chr 3, 38627418: 38627418
75SCN5ANM_000335.4(SCN5A): c.2553C> A (p.Phe851Leu)single nucleotide variantPathogenicrs199473340GRCh37Chr 3, 38627416: 38627416
76SCN5ANM_000335.4(SCN5A): c.2599G> C (p.Glu867Gln)single nucleotide variantPathogenicrs199473167GRCh37Chr 3, 38627370: 38627370
77SCN5ANM_198056.2(SCN5A): c.2632C> T (p.Arg878Cys)single nucleotide variantPathogenicrs199473168GRCh37Chr 3, 38627337: 38627337
78SCN5ANM_000335.4(SCN5A): c.2633G> A (p.Arg878His)single nucleotide variantPathogenicrs199473587GRCh37Chr 3, 38627336: 38627336
79SCN5ANM_000335.4(SCN5A): c.2657A> C (p.His886Pro)single nucleotide variantPathogenicrs199473169GRCh37Chr 3, 38627312: 38627312
80SCN5ANM_000335.4(SCN5A): c.2674T> A (p.Phe892Ile)single nucleotide variantPathogenicrs199473170GRCh37Chr 3, 38627295: 38627295
81SCN5ANM_198056.2(SCN5A): c.2677C> T (p.Arg893Cys)single nucleotide variantPathogenicrs199473171GRCh37Chr 3, 38627292: 38627292
82SCN5ANM_000335.4(SCN5A): c.2678G> A (p.Arg893His)single nucleotide variantPathogenicrs199473172GRCh37Chr 3, 38627291: 38627291
83SCN5ANM_000335.4(SCN5A): c.2686T> A (p.Cys896Ser)single nucleotide variantPathogenicrs199473173GRCh37Chr 3, 38627283: 38627283
84SCN5ANM_000335.4(SCN5A): c.2701G> A (p.Glu901Lys)single nucleotide variantPathogenicrs199473174GRCh37Chr 3, 38627268: 38627268
85SCN5ANM_000335.4(SCN5A): c.2729C> T (p.Ser910Leu)single nucleotide variantPathogenicrs199473175GRCh37Chr 3, 38627240: 38627240
86SCN5ANM_000335.4(SCN5A): c.2743T> C (p.Cys915Arg)single nucleotide variantPathogenicrs199473588GRCh37Chr 3, 38627226: 38627226
87SCN5ANM_000335.4(SCN5A): c.2750T> G (p.Leu917Arg)single nucleotide variantPathogenicrs199473176GRCh37Chr 3, 38627219: 38627219
88SCN5ANM_000335.4(SCN5A): c.2780A> G (p.Asn927Ser)single nucleotide variantPathogenicrs199473589GRCh37Chr 3, 38627189: 38627189
89SCN5ANM_000335.4(SCN5A): c.2783T> C (p.Leu928Pro)single nucleotide variantPathogenicrs199473178GRCh37Chr 3, 38627186: 38627186
90SCN5ANM_000335.4(SCN5A): c.278T> C (p.Phe93Ser)single nucleotide variantPathogenicrs199473052GRCh37Chr 3, 38671916: 38671916
91SCN5ANM_000335.4(SCN5A): c.2804T> C (p.Leu935Pro)single nucleotide variantPathogenicrs199473179GRCh37Chr 3, 38622846: 38622846
92SCN5ANM_000335.4(SCN5A): c.281T> G (p.Ile94Ser)single nucleotide variantPathogenicrs199473053GRCh37Chr 3, 38671913: 38671913
93SCN5ANM_198056.2(SCN5A): c.283G> A (p.Val95Ile)single nucleotide variantLikely pathogenic, Pathogenicrs199473054GRCh37Chr 3, 38671911: 38671911
94SCN5ANM_198056.2(SCN5A): c.2893C> T (p.Arg965Cys)single nucleotide variantPathogenicrs199473180GRCh37Chr 3, 38622757: 38622757
95SCN5ANM_000335.4(SCN5A): c.2894G> A (p.Arg965His)single nucleotide variantPathogenicrs199473181GRCh37Chr 3, 38622756: 38622756
96SCN5ANM_198056.2(SCN5A): c.2989G> A (p.Ala997Thr)single nucleotide variantLikely pathogenic, Pathogenicrs137854609GRCh37Chr 3, 38622661: 38622661
97SCN5ANM_198056.2(SCN5A): c.3068G> A (p.Arg1023His)single nucleotide variantPathogenicrs199473592GRCh37Chr 3, 38622582: 38622582
98SCN5ANM_000335.4(SCN5A): c.310C> T (p.Arg104Trp)single nucleotide variantPathogenicrs199473055GRCh37Chr 3, 38671884: 38671884
99SCN5ANM_198056.2(SCN5A): c.311G> A (p.Arg104Gln)single nucleotide variantPathogenicrs199473554GRCh37Chr 3, 38671883: 38671883
100SCN5ANM_000335.4(SCN5A): c.3164A> G (p.Asp1055Gly)single nucleotide variantPathogenicrs199473593GRCh37Chr 3, 38622486: 38622486
101SCN5ANM_000335.4(SCN5A): c.3233C> A (p.Ser1078Tyr)single nucleotide variantPathogenicrs199473188GRCh37Chr 3, 38620979: 38620979
102SCN5ANM_000335.4(SCN5A): c.327C> A (p.Asn109Lys)single nucleotide variantPathogenicrs199473056GRCh37Chr 3, 38671867: 38671867
103SCN5ANM_000335.4(SCN5A): c.3335C> T (p.Ala1112Val)single nucleotide variantPathogenicrs199473194GRCh37Chr 3, 38620877: 38620877
104SCN5ANM_000335.4(SCN5A): c.3416G> C (p.Ser1139Thr)single nucleotide variantPathogenicrs199473199GRCh37Chr 3, 38618244: 38618244
105SCN5ANM_000335.4(SCN5A): c.361C> T (p.Arg121Trp)single nucleotide variantPathogenicrs199473556GRCh37Chr 3, 38671833: 38671833
106SCN5ANM_000335.4(SCN5A): c.362G> A (p.Arg121Gln)single nucleotide variantPathogenicrs199473058GRCh37Chr 3, 38671832: 38671832
107SCN5ANM_000335.4(SCN5A): c.3653G> A (p.Ser1218Asn)single nucleotide variantPathogenicrs199473597GRCh37Chr 3, 38616798: 38616798
108SCN5ANM_000335.4(SCN5A): c.3679T> C (p.Tyr1227His)single nucleotide variantPathogenicrs199473205GRCh37Chr 3, 38608058: 38608058
109SCN5ANM_198056.2(SCN5A): c.3694C> T (p.Arg1232Trp)single nucleotide variantLikely pathogenic, Pathogenicrs199473207GRCh37Chr 3, 38608046: 38608046
110SCN5ANM_198056.2(SCN5A): c.3695G> A (p.Arg1232Gln)single nucleotide variantPathogenicrs199473206GRCh37Chr 3, 38608045: 38608045
111SCN5ANM_000335.4(SCN5A): c.3704A> G (p.Lys1235Arg)single nucleotide variantLikely pathogenicrs199473209GRCh37Chr 3, 38608033: 38608033
112SCN5ANM_000335.4(SCN5A): c.3705G> T (p.Lys1235Asn)single nucleotide variantPathogenicrs199473208GRCh37Chr 3, 38608032: 38608032
113SCN5ANM_000335.4(SCN5A): c.3713T> C (p.Leu1238Pro)single nucleotide variantPathogenicrs199473210GRCh37Chr 3, 38608024: 38608024
114SCN5ANM_198056.2(SCN5A): c.3718G> C (p.Glu1240Gln)single nucleotide variantPathogenicrs199473211GRCh37Chr 3, 38608022: 38608022
115SCN5ANM_000335.4(SCN5A): c.3724G> A (p.Asp1242Asn)single nucleotide variantPathogenicrs199473599GRCh37Chr 3, 38608013: 38608013
116SCN5ANM_000335.4(SCN5A): c.3743T> A (p.Val1248Asp)single nucleotide variantPathogenicrs199473213GRCh37Chr 3, 38607994: 38607994
117SCN5ANM_000335.4(SCN5A): c.3755A> G (p.Glu1252Gly)single nucleotide variantPathogenicrs199473214GRCh37Chr 3, 38607982: 38607982
118SCN5ANM_000335.4(SCN5A): c.376A> G (p.Lys126Glu)single nucleotide variantPathogenicrs185492581GRCh37Chr 3, 38671818: 38671818
119SCN5ANM_000335.4(SCN5A): c.3810G> C (p.Trp1270Cys)single nucleotide variantPathogenicrs199473601GRCh37Chr 3, 38607927: 38607927
120SCN5ANM_000335.4(SCN5A): c.3838G> T (p.Val1280Phe)single nucleotide variantLikely pathogenicrs199473602GRCh37Chr 3, 38604028: 38604028
121SCN5ANM_000335.4(SCN5A): c.3860C> G (p.Ala1287Gly)single nucleotide variantPathogenicrs199473217GRCh37Chr 3, 38604006: 38604006
122SCN5ANM_000335.4(SCN5A): c.3929T> C (p.Leu1310Pro)single nucleotide variantPathogenicrs199473219GRCh37Chr 3, 38603937: 38603937
123SCN5ANM_198056.2(SCN5A): c.3956G> T (p.Gly1319Val)single nucleotide variantPathogenicrs199473220GRCh37Chr 3, 38603913: 38603913
124SCN5ANM_000335.4(SCN5A): c.3965T> G (p.Val1322Gly)single nucleotide variantPathogenicrs199473221GRCh37Chr 3, 38601915: 38601915
125SCN5ANM_198056.2(SCN5A): c.3995C> T (p.Pro1332Leu)single nucleotide variantPathogenicrs199473225GRCh37Chr 3, 38601888: 38601888
126SCN5ANM_000335.4(SCN5A): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs199473550GRCh37Chr 3, 38674796: 38674796
127SCN5ANM_198056.2(SCN5A): c.4018G> A (p.Val1340Ile)single nucleotide variantPathogenicrs199473605GRCh37Chr 3, 38601865: 38601865
128SCN5ANM_000335.4(SCN5A): c.4027T> C (p.Phe1343Leu)single nucleotide variantPathogenicrs199473228GRCh37Chr 3, 38601853: 38601853
129SCN5ANM_000335.4(SCN5A): c.4028T> C (p.Phe1343Ser)single nucleotide variantPathogenicrs199473229GRCh37Chr 3, 38601852: 38601852
130SCN5ANM_000335.4(SCN5A): c.4032G> T (p.Trp1344Cys)single nucleotide variantPathogenicrs199473606GRCh37Chr 3, 38601848: 38601848
131SCN5ANM_000335.4(SCN5A): c.4033C> A (p.Leu1345Ile)single nucleotide variantPathogenicrs199473230GRCh37Chr 3, 38601847: 38601847
132SCN5ANM_000335.4(SCN5A): c.4034T> C (p.Leu1345Pro)single nucleotide variantPathogenicrs199473231GRCh37Chr 3, 38601846: 38601846
133SCN5ANM_000335.4(SCN5A): c.4046T> C (p.Ile1349Thr)single nucleotide variantPathogenicrs199473607GRCh37Chr 3, 38601834: 38601834
134SCN5ANM_000335.4(SCN5A): c.4049T> G (p.Met1350Arg)single nucleotide variantPathogenicrs199473232GRCh37Chr 3, 38601831: 38601831
135SCN5ANM_198056.2(SCN5A): c.4057G> A (p.Val1353Met)single nucleotide variantPathogenicrs199473233GRCh37Chr 3, 38601826: 38601826
136SCN5ANM_000335.4(SCN5A): c.4069G> T (p.Gly1357Trp)single nucleotide variantPathogenicrs199473234GRCh37Chr 3, 38601811: 38601811
137SCN5ANM_000335.4(SCN5A): c.4074G> T (p.Lys1358Asn)single nucleotide variantPathogenicrs199473235GRCh37Chr 3, 38601806: 38601806
138SCN5ANM_000335.4(SCN5A): c.4076T> G (p.Phe1359Cys)single nucleotide variantPathogenicrs199473236GRCh37Chr 3, 38601804: 38601804
139SCN5ANM_000335.4(SCN5A): c.407T> C (p.Leu136Pro)single nucleotide variantPathogenicrs199473557GRCh37Chr 3, 38663966: 38663966
140SCN5ANM_000335.4(SCN5A): c.4085G> A (p.Cys1362Tyr)single nucleotide variantPathogenicrs199473237GRCh37Chr 3, 38601795: 38601795
141SCN5ANM_000335.4(SCN5A): c.4137C> G (p.Asn1379Lys)single nucleotide variantPathogenicrs199473238GRCh37Chr 3, 38601743: 38601743
142SCN5ANM_000335.4(SCN5A): c.4142G> T (p.Ser1381Ile)single nucleotide variantPathogenicrs199473608GRCh37Chr 3, 38601738: 38601738
143SCN5ANM_000335.4(SCN5A): c.4210G> A (p.Val1404Met)single nucleotide variantPathogenicrs199473239GRCh37Chr 3, 38601670: 38601670
144SCN5ANM_000335.4(SCN5A): c.4210G> C (p.Val1404Leu)single nucleotide variantPathogenicrs199473239GRCh37Chr 3, 38601670: 38601670
145SCN5ANM_000335.4(SCN5A): c.4213G> A (p.Gly1405Arg)single nucleotide variantPathogenicrs199473240GRCh37Chr 3, 38601667: 38601667
146SCN5ANM_198056.2(SCN5A): c.4217G> A (p.Gly1406Glu)single nucleotide variantPathogenicrs199473609GRCh37Chr 3, 38601666: 38601666
147SCN5ANM_000335.4(SCN5A): c.4223A> G (p.Tyr1408Cys)single nucleotide variantPathogenicrs199473610GRCh37Chr 3, 38601657: 38601657
148SCN5ANM_000335.4(SCN5A): c.4231C> T (p.Leu1411Phe)single nucleotide variantPathogenicrs199473241GRCh37Chr 3, 38601649: 38601649
149SCN5ANM_000335.4(SCN5A): c.4252A> G (p.Lys1418Glu)single nucleotide variantPathogenicrs199473242GRCh37Chr 3, 38598766: 38598766
150SCN5ANM_000335.4(SCN5A): c.4255G> C (p.Gly1419Arg)single nucleotide variantPathogenicrs199473611GRCh37Chr 3, 38598763: 38598763
151SCN5ANM_000335.4(SCN5A): c.4256G> T (p.Gly1419Val)single nucleotide variantLikely pathogenicrs199473243GRCh37Chr 3, 38598762: 38598762
152SCN5ANM_000335.4(SCN5A): c.4276G> T (p.Ala1426Ser)single nucleotide variantPathogenicrs199473244GRCh37Chr 3, 38598742: 38598742
153SCN5ANM_000335.4(SCN5A): c.4280C> T (p.Ala1427Val)single nucleotide variantPathogenicrs199473612GRCh37Chr 3, 38598738: 38598738
154SCN5ANM_000335.4(SCN5A): c.4291A> G (p.Arg1431Gly)single nucleotide variantPathogenicrs199473245GRCh37Chr 3, 38598727: 38598727
155SCN5ANM_000335.4(SCN5A): c.4295G> T (p.Gly1432Val)single nucleotide variantPathogenicrs199473247GRCh37Chr 3, 38598723: 38598723
156SCN5ANM_000335.4(SCN5A): c.4310C> T (p.Pro1437Leu)single nucleotide variantPathogenicrs199473248GRCh37Chr 3, 38598056: 38598056
157SCN5ANM_000335.4(SCN5A): c.4318G> C (p.Glu1440Gln)single nucleotide variantPathogenicrs199473249GRCh37Chr 3, 38598048: 38598048
158SCN5ANM_198056.2(SCN5A): c.4342A> C (p.Ile1448Leu)single nucleotide variantLikely pathogenic, Pathogenicrs199473250GRCh37Chr 3, 38598027: 38598027
159SCN5ANM_000335.4(SCN5A): c.4340T> C (p.Ile1447Thr)single nucleotide variantPathogenicrs199473251GRCh37Chr 3, 38598026: 38598026
160SCN5ANM_198056.2(SCN5A): c.4346A> G (p.Tyr1449Cys)single nucleotide variantPathogenicrs199473613GRCh37Chr 3, 38598023: 38598023
161SCN5ANM_000335.4(SCN5A): c.4349T> A (p.Val1450Asp)single nucleotide variantPathogenicrs199473252GRCh37Chr 3, 38598017: 38598017
162SCN5ANM_000335.4(SCN5A): c.436G> A (p.Val146Met)single nucleotide variantPathogenicrs199473061GRCh37Chr 3, 38663937: 38663937
163SCN5ANM_000335.4(SCN5A): c.4384A> T (p.Asn1462Tyr)single nucleotide variantPathogenicrs199473614GRCh37Chr 3, 38597982: 38597982
164SCN5ANM_000335.4(SCN5A): c.4399G> T (p.Val1467Phe)single nucleotide variantPathogenicrs199473254GRCh37Chr 3, 38597967: 38597967
165SCN5ANM_000335.4(SCN5A): c.4477T> A (p.Tyr1493Asn)single nucleotide variantPathogenicrs199473261GRCh37Chr 3, 38597209: 38597209
166SCN5ANM_000335.4(SCN5A): c.4498C> G (p.Leu1500Val)single nucleotide variantPathogenicrs199473266GRCh37Chr 3, 38597188: 38597188
167SCN5ANM_000335.4(SCN5A): c.4501G> A (p.Gly1501Ser)single nucleotide variantPathogenicrs199473267GRCh37Chr 3, 38597185: 38597185
168SCN5ANM_000335.4(SCN5A): c.4559T> A (p.Ile1520Lys)single nucleotide variantPathogenicrs199473617GRCh37Chr 3, 38596021: 38596021
169SCN5ANM_000335.4(SCN5A): c.4570G> A (p.Val1524Met)single nucleotide variantPathogenicrs199473269GRCh37Chr 3, 38596010: 38596010
170SCN5ANM_000335.4(SCN5A): c.4577A> G (p.Lys1526Arg)single nucleotide variantPathogenicrs199473270GRCh37Chr 3, 38596003: 38596003
171SCN5ANM_000335.4(SCN5A): c.4639G> A (p.Glu1547Lys)single nucleotide variantPathogenicrs199473271GRCh37Chr 3, 38595941: 38595941
172SCN5ANM_000335.4(SCN5A): c.4654A> C (p.Ser1552Arg)single nucleotide variantPathogenicrs199473272GRCh37Chr 3, 38595926: 38595926
173SCN5ANM_000335.4(SCN5A): c.4702G> C (p.Ala1568Pro)single nucleotide variantPathogenicrs199473273GRCh37Chr 3, 38595878: 38595878
174SCN5ANM_000335.4(SCN5A): c.4709T> G (p.Phe1570Cys)single nucleotide variantPathogenicrs199473274GRCh37Chr 3, 38595871: 38595871
175SCN5ANM_000335.4(SCN5A): c.4717G> A (p.Glu1573Lys)single nucleotide variantPathogenicrs199473620GRCh37Chr 3, 38595863: 38595863
176SCN5ANM_000335.4(SCN5A): c.4742T> C (p.Leu1581Pro)single nucleotide variantPathogenicrs199473275GRCh37Chr 3, 38595838: 38595838
177SCN5ANM_198056.2(SCN5A): c.4747C> T (p.Arg1583Cys)single nucleotide variantPathogenicrs45514691GRCh37Chr 3, 38595836: 38595836
178SCN5ANM_000335.4(SCN5A): c.4745G> A (p.Arg1582His)single nucleotide variantPathogenicrs199473621GRCh37Chr 3, 38595835: 38595835
179SCN5ANM_198056.2(SCN5A): c.4810G> A (p.Val1604Met)single nucleotide variantPathogenicrs199473280GRCh37Chr 3, 38595773: 38595773
180SCN5ANM_000335.4(SCN5A): c.481G> A (p.Glu161Lys)single nucleotide variantPathogenicrs199473062GRCh37Chr 3, 38663892: 38663892
181SCN5ANM_000335.4(SCN5A): c.481G> C (p.Glu161Gln)single nucleotide variantPathogenicrs199473062GRCh37Chr 3, 38663892: 38663892
182SCN5ANM_000335.4(SCN5A): c.4835A> T (p.Gln1612Leu)single nucleotide variantPathogenicrs199473281GRCh37Chr 3, 38593025: 38593025
183SCN5ANM_198056.2(SCN5A): c.4859C> T (p.Thr1620Met)single nucleotide variantPathogenicrs199473282GRCh37Chr 3, 38593004: 38593004
184SCN5ANM_000335.4(SCN5A): c.4882C> G (p.Arg1628Gly)single nucleotide variantPathogenicrs199473284GRCh37Chr 3, 38592978: 38592978
185SCN5ANM_000335.4(SCN5A): c.4883G> A (p.Arg1628Gln)single nucleotide variantPathogenicrs199473623GRCh37Chr 3, 38592977: 38592977
186SCN5ANM_000335.4(SCN5A): c.4922G> A (p.Gly1641Glu)single nucleotide variantPathogenicrs199473624GRCh37Chr 3, 38592938: 38592938
187SCN5ANM_000335.4(SCN5A): c.4943C> T (p.Ala1648Val)single nucleotide variantPathogenicrs199473289GRCh37Chr 3, 38592917: 38592917
188SCN5ANM_198056.2(SCN5A): c.4978A> G (p.Ile1660Val)single nucleotide variantPathogenicrs199473625GRCh37Chr 3, 38592885: 38592885
189SCN5ANM_000335.4(SCN5A): c.4978G> C (p.Gly1660Arg)single nucleotide variantPathogenicrs199473292GRCh37Chr 3, 38592882: 38592882
190SCN5ANM_000335.4(SCN5A): c.4G> A (p.Ala2Thr)single nucleotide variantPathogenicrs199473042GRCh37Chr 3, 38674795: 38674795
191SCN5ANM_000335.4(SCN5A): c.5012C> A (p.Ser1671Tyr)single nucleotide variantPathogenicrs199473626GRCh37Chr 3, 38592848: 38592848
192SCN5ANM_198056.2(SCN5A): c.5038G> A (p.Ala1680Thr)single nucleotide variantPathogenicrs199473294GRCh37Chr 3, 38592825: 38592825
193SCN5ANM_000335.4(SCN5A): c.5089G> A (p.Ala1697Thr)single nucleotide variantPathogenicrs199473295GRCh37Chr 3, 38592771: 38592771
194SCN5ANM_000335.4(SCN5A): c.5115G> C (p.Gln1705His)single nucleotide variantPathogenicrs199473296GRCh37Chr 3, 38592745: 38592745
195SCN5ANM_000335.4(SCN5A): c.5123C> G (p.Thr1708Arg)single nucleotide variantPathogenicrs199473297GRCh37Chr 3, 38592737: 38592737
196SCN5ANM_198056.2(SCN5A): c.5126C> T (p.Thr1709Met)single nucleotide variantPathogenicrs199473297GRCh37Chr 3, 38592737: 38592737
197SCN5ANM_000335.4(SCN5A): c.5131G> A (p.Gly1711Ser)single nucleotide variantPathogenicrs199473298GRCh37Chr 3, 38592729: 38592729
198SCN5ANM_000335.4(SCN5A): c.5138A> G (p.Asp1713Gly)single nucleotide variantPathogenicrs199473628GRCh37Chr 3, 38592722: 38592722
199SCN5ANM_000335.4(SCN5A): c.5161A> G (p.Asn1721Asp)single nucleotide variantPathogenicrs199473299GRCh37Chr 3, 38592699: 38592699
200SCN5ANM_000335.4(SCN5A): c.5179T> C (p.Cys1727Arg)single nucleotide variantPathogenicrs199473302GRCh37Chr 3, 38592681: 38592681
201SCN5ANM_000335.4(SCN5A): c.5181C> G (p.Cys1727Trp)single nucleotide variantPathogenicrs193922726GRCh37Chr 3, 38592679: 38592679
202SCN5ANM_000335.4(SCN5A): c.5215G> A (p.Gly1739Arg)single nucleotide variantPathogenicrs199473304GRCh37Chr 3, 38592645: 38592645
203SCN5ANM_198056.2(SCN5A): c.5227G> A (p.Gly1743Arg)single nucleotide variantLikely pathogenic, Pathogenicrs199473305GRCh37Chr 3, 38592636: 38592636
204SCN5ANM_000335.4(SCN5A): c.5225G> A (p.Gly1742Glu)single nucleotide variantPathogenicrs199473629GRCh37Chr 3, 38592635: 38592635
205SCN5ANM_000335.4(SCN5A): c.525G> C (p.Lys175Asn)single nucleotide variantPathogenicrs199473063GRCh37Chr 3, 38662420: 38662420
206SCN5ANM_000335.4(SCN5A): c.5287G> T (p.Val1763Phe)single nucleotide variantPathogenicrs199473309GRCh37Chr 3, 38592573: 38592573
207SCN5ANM_000335.4(SCN5A): c.5318A> G (p.Asn1773Ser)single nucleotide variantPathogenicrs199473313GRCh37Chr 3, 38592542: 38592542
208SCN5ANM_000335.4(SCN5A): c.5333C> T (p.Thr1778Met)single nucleotide variantPathogenicrs199473634GRCh37Chr 3, 38592527: 38592527
209SCN5ANM_000335.4(SCN5A): c.533C> G (p.Ala178Gly)single nucleotide variantPathogenicrs199473065GRCh37Chr 3, 38662412: 38662412
210SCN5ANM_000335.4(SCN5A): c.544T> C (p.Cys182Arg)single nucleotide variantPathogenicrs199473066GRCh37Chr 3, 38662401: 38662401
211SCN5ANM_000335.4(SCN5A): c.5546G> C (p.Cys1849Ser)single nucleotide variantPathogenicrs199473322GRCh37Chr 3, 38592314: 38592314
212SCN5ANM_000335.4(SCN5A): c.554C> T (p.Ala185Val)single nucleotide variantPathogenicrs199473067GRCh37Chr 3, 38662391: 38662391
213SCN5ANM_000335.4(SCN5A): c.5578G> A (p.Val1860Ile)single nucleotide variantPathogenicrs199473636GRCh37Chr 3, 38592282: 38592282
214SCN5ANM_000335.4(SCN5A): c.560C> T (p.Thr187Ile)single nucleotide variantPathogenicrs199473558GRCh37Chr 3, 38662385: 38662385
215SCN5ANM_000335.4(SCN5A): c.5613G> C (p.Lys1871Asn)single nucleotide variantPathogenicrs199473323GRCh37Chr 3, 38592247: 38592247
216SCN5ANM_000335.4(SCN5A): c.5800G> A (p.Gly1934Ser)single nucleotide variantPathogenicrs199473637GRCh37Chr 3, 38592060: 38592060
217SCN5ANM_000335.4(SCN5A): c.5809G> A (p.Glu1937Lys)single nucleotide variantPathogenicrs199473329GRCh37Chr 3, 38592051: 38592051
218SCN5ANM_000335.4(SCN5A): c.5888C> T (p.Ser1963Phe)single nucleotide variantLikely pathogenicrs199473332GRCh37Chr 3, 38591972: 38591972
219SCN5ANM_000335.4(SCN5A): c.5900T> G (p.Ile1967Ser)single nucleotide variantPathogenicrs199473639GRCh37Chr 3, 38591960: 38591960
220SCN5ANM_000335.4(SCN5A): c.611C> T (p.Ala204Val)single nucleotide variantPathogenicrs199473559GRCh37Chr 3, 38662334: 38662334
221SCN5ANM_000335.4(SCN5A): c.635T> A (p.Leu212Gln)single nucleotide variantPathogenicrs199473070GRCh37Chr 3, 38655302: 38655302
222SCN5ANM_000335.4(SCN5A): c.667G> C (p.Val223Leu)single nucleotide variantPathogenicrs199473560GRCh37Chr 3, 38655270: 38655270
223SCN5ANM_000335.4(SCN5A): c.677C> T (p.Ala226Val)single nucleotide variantPathogenicrs199473561GRCh37Chr 3, 38655260: 38655260
224SCN5ANM_000335.4(SCN5A): c.688A> G (p.Ile230Val)single nucleotide variantPathogenicrs199473074GRCh37Chr 3, 38655249: 38655249
225SCN5ANM_000335.4(SCN5A): c.694G> A (p.Val232Ile)single nucleotide variantPathogenicrs45471994GRCh37Chr 3, 38655243: 38655243
226SCN5ANM_198056.2(SCN5A): c.718G> A (p.Val240Met)single nucleotide variantPathogenicrs199473076GRCh37Chr 3, 38651441: 38651441
227SCN5ANM_000335.4(SCN5A): c.808C> A (p.Gln270Lys)single nucleotide variantPathogenicrs199473079GRCh37Chr 3, 38651351: 38651351
228SCN5ANM_000335.4(SCN5A): c.827T> A (p.Leu276Gln)single nucleotide variantPathogenicrs199473081GRCh37Chr 3, 38651332: 38651332
229SCN5ANM_000335.4(SCN5A): c.832C> G (p.His278Asp)single nucleotide variantPathogenicrs199473562GRCh37Chr 3, 38651327: 38651327
230SCN5ANM_198056.2(SCN5A): c.844C> T (p.Arg282Cys)single nucleotide variantPathogenicrs199473082GRCh37Chr 3, 38651315: 38651315
231SCN5ANM_198056.2(SCN5A): c.845G> A (p.Arg282His)single nucleotide variantPathogenicrs199473083GRCh37Chr 3, 38651314: 38651314
232SCN5ANM_198056.2(SCN5A): c.874G> A (p.Gly292Ser)single nucleotide variantPathogenicrs199473085GRCh37Chr 3, 38651285: 38651285
233SCN5ANM_000335.4(SCN5A): c.880G> A (p.Val294Met)single nucleotide variantPathogenicrs199473086GRCh37Chr 3, 38651279: 38651279
234SCN5ANM_000335.4(SCN5A): c.898G> A (p.Val300Ile)single nucleotide variantPathogenicrs199473088GRCh37Chr 3, 38651261: 38651261
235SCN5ANM_198056.2(SCN5A): c.944T> C (p.Leu315Pro)single nucleotide variantPathogenicrs199473564GRCh37Chr 3, 38649696: 38649696
236SCN5ANM_000335.4(SCN5A): c.951G> C (p.Lys317Asn)single nucleotide variantPathogenicrs199473089GRCh37Chr 3, 38649689: 38649689
237SCN5ANM_000335.4(SCN5A): c.955G> A (p.Gly319Ser)single nucleotide variantPathogenicrs199473090GRCh37Chr 3, 38649685: 38649685
238SCN5ANM_000335.4(SCN5A): c.959C> A (p.Thr320Asn)single nucleotide variantPathogenicrs199473091GRCh37Chr 3, 38649681: 38649681
239SCN5ANM_000335.4(SCN5A): c.974T> G (p.Leu325Arg)single nucleotide variantPathogenicrs199473092GRCh37Chr 3, 38649666: 38649666
240GPD1LNM_015141.3(GPD1L): c.247G> A (p.Glu83Lys)single nucleotide variantPathogenicrs72552292GRCh37Chr 3, 32180100: 32180100
241SCN1BNM_199037.3(SCN1B): c.536G> A (p.Trp179Ter)single nucleotide variantPathogenicrs267607028GRCh37Chr 19, 35524731: 35524731
242SCN5ANM_198056.2(SCN5A): c.3694C> T (p.Arg1232Trp)single nucleotide variantLikely pathogenic, Pathogenicrs199473207GRCh37Chr 3, 38608046: 38608046
243SCN5ANM_000335.4(SCN5A): c.611+3_611+4dupAAduplicationPathogenicrs397514252GRCh37Chr 3, 38662330: 38662331
244SCN5ANM_000335.4(SCN5A): c.4187delA (p.Lys1396Argfs)deletionPathogenicrs397514446GRCh37Chr 3, 38601693: 38601693
245SCN5ANM_000335.4(SCN5A): c.5767G> A (p.Ala1923Thr)single nucleotide variantPathogenicrs137854603GRCh37Chr 3, 38592093: 38592093
246SCN5ANM_000335.4(SCN5A): c.5382_5384dupTGA (p.Tyr1794_Glu1795insAsp)duplicationPathogenicrs397514449GRCh37Chr 3, 38592476: 38592478
247SCN5ANM_198056.2(SCN5A): c.1100G> A (p.Arg367His)single nucleotide variantPathogenicrs28937318GRCh37Chr 3, 38648200: 38648200
248SCN5ANM_000335.4(SCN5A): c.2204C> T (p.Ala735Val)single nucleotide variantPathogenicrs137854611GRCh37Chr 3, 38639278: 38639278
249SCN5ANM_000335.4(SCN5A): c.3575G> A (p.Arg1192Gln)single nucleotide variantPathogenic, risk factorrs41261344GRCh37Chr 3, 38616876: 38616876
250SCN5ANM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg)single nucleotide variantPathogenicrs137854612GRCh37Chr 3, 38601661: 38601661
251SCN5ANM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His)single nucleotide variantPathogenicrs137854615GRCh37Chr 3, 38592480: 38592480
252SCN5ANM_000335.4(SCN5A): c.3781G> A (p.Gly1261Ser)single nucleotide variantPathogenicrs137854616GRCh37Chr 3, 38607956: 38607956
253SCN5ANM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn)single nucleotide variantPathogenicrs137854618GRCh37Chr 3, 38607917: 38607917
254SCN5ANM_000335.4(SCN5A): c.4259G> A (p.Trp1420Ter)single nucleotide variantPathogenicrs137854620GRCh37Chr 3, 38598759: 38598759
255SCN5ANM_000335.4(SCN5A): c.694G> A (p.Val232Ile)single nucleotide variantPathogenicrs45471994GRCh37Chr 3, 38655243: 38655243
256CACNB2NM_201590.2(CACNB2): c.1442C> T (p.Ser481Leu)single nucleotide variantPathogenicrs121917812GRCh37Chr 10, 18828274: 18828274

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 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1CACNA1C, CACNA2D1, CACNB2
210.1CACNA1C, CACNA2D1, CACNB2
310.0SCN10A, SCN1B, SCN2B, SCN5A
410.0CACNA1C, CACNA2D1, CACNB2, KCNQ1
5
Show member pathways
10.0CACNA1C, CACNA2D1, CACNB2, PKP2
6
Show member pathways
9.8HCN4, KCND3, KCNH2, KCNJ8, KCNQ1
7
Show member pathways
9.7CACNA2D1, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
8
Show member pathways
9.7ANK3, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
99.7ANK3, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
109.7GPD1L, KCNH2, KCNJ8, KCNQ1, SCN3B, SCN5A
11
Show member pathways
9.6CACNA1C, CACNA2D1, CACNB2, KCNJ8, KCNQ1, SCN1B
129.6CACNA1C, CACNB2, KCND3, KCNE3, KCNH2, KCNJ8
13
Show member pathways
9.6CACNA2D1, CACNB2, HCN4, KCND3, KCNH2, KCNJ8
14
Show member pathways
9.5CACNA1C, CACNA2D1, CACNB2, SCN10A, SCN1B, SCN2B
15
Show member pathways
9.5CACNA1C, CACNA2D1, CACNB2, SCN10A, SCN1B, SCN2B
16
Show member pathways
9.5ANK3, CACNA1C, CACNB2, SCN10A, SCN1B, SCN2B
179.0CACNA1C, CACNB2, HCN4, KCND3, KCNE3, KCNH2

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
1node of RanvierGO:003326810.8ANK3, SCN1B
2voltage-gated calcium channel complexGO:000589110.7CACNA1C, CACNA2D1, CACNB2
3voltage-gated sodium channel complexGO:000151810.6SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
4T-tubuleGO:003031510.5ANK3, CACNA1C, CACNA2D1, SCN1B, SCN5A
5intercalated discGO:001470410.4ANK3, PKP2, RANGRF, SCN1B, SCN5A
6voltage-gated potassium channel complexGO:000807610.1KCND3, KCNE3, KCNH2, KCNJ8, KCNQ1
7Z discGO:00300189.9CACNA1C, SCN3B, SCN5A
8sarcolemmaGO:00423839.7ANK3, CACNA1C, CACNB2, KCND3, KCNJ8, SCN5A
9membraneGO:00160209.0ANK3, CACNA1C, GPD1L, HCN4, KCND3, KCNE3
10plasma membraneGO:00058868.5ANK3, CACNA1C, GPD1L, HCN4, KCND3, KCNH2

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

(show all 47)
idNameGO IDScoreTop Affiliating Genes
1AV node cell action potentialGO:008601611.0SCN10A, SCN5A
2bundle of His cell action potentialGO:008604311.0SCN10A, SCN5A
3membrane depolarization during Purkinje myocyte cell action potentialGO:008604710.9SCN1B, SCN5A
4regulation of sodium ion transmembrane transportGO:190230510.9RANGRF, SCN5A
5regulation of atrial cardiac muscle cell membrane repolarizationGO:006037210.9KCNQ1, SCN5A
6regulation of potassium ion transportGO:004326610.9ANK3, KCNE3
7atrial cardiac muscle cell action potentialGO:008601410.8KCNQ1, SCN3B
8positive regulation of protein localization to cell surfaceGO:200001010.8GPD1L, RANGRF
9membrane repolarization during action potentialGO:008601110.8KCNH2, KCNQ1
10potassium ion export across plasma membraneGO:009762310.8KCNH2, KCNQ1
11positive regulation of potassium ion transmembrane transportGO:190138110.8KCNH2, KCNQ1
12negative regulation of delayed rectifier potassium channel activityGO:190226010.8ANK3, KCNE3
13regulation of ventricular cardiac muscle cell membrane depolarizationGO:006037310.8GPD1L, SCN3B, SCN5A
14SA node cell action potentialGO:008601510.8HCN4, SCN3B, SCN5A
15cell communication by electrical coupling involved in cardiac conductionGO:008606410.8CACNA1C, PKP2
16regulation of cardiac muscle contractionGO:005511710.8HCN4, SCN10A
17cardiac conductionGO:006133710.8SCN1B, SCN3B, TRPM4
18regulation of membrane depolarizationGO:000325410.8HCN4, RANGRF
19membrane repolarization during cardiac muscle cell action potentialGO:008601310.7KCNH2, KCNQ1
20potassium ion exportGO:007143510.7KCND3, KCNH2, KCNQ1
21regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.6KCNH2, KCNQ1, SCN1B, SCN5A
22membrane depolarizationGO:005189910.6SCN1B, SCN3B, SCN5A
23membrane depolarization during cardiac muscle cell action potentialGO:008601210.6SCN1B, SCN2B, SCN3B, SCN5A
24regulation of membrane repolarizationGO:006030610.6KCNE3, KCNH2, KCNQ1
25neuronal action potentialGO:001922810.6ANK3, SCN10A, SCN5A
26potassium ion transmembrane transportGO:007180510.5HCN4, KCNE3, KCNH2, KCNQ1
27regulation of atrial cardiac muscle cell membrane depolarizationGO:006037110.5SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
28regulation of sodium ion transmembrane transporter activityGO:200064910.5GPD1L, RANGRF, SCN1B, SCN2B, SCN3B
29positive regulation of heart rateGO:001046010.5KCNQ1, SCN3B, SCN5A
30cardiac muscle cell action potential involved in contractionGO:008600210.5PKP2, SCN1B, SCN2B, SCN3B, SCN5A
31calcium ion transportGO:000681610.5CACNA1C, CACNA2D1, TRPM4
32sodium ion transportGO:000681410.5SCN10A, SCN1B, SCN3B, SCN5A
33membrane depolarization during action potentialGO:008601010.4CACNA1C, KCNH2, SCN10A, SCN3B, SCN5A
34positive regulation of sodium ion transportGO:001076510.4ANK3, GPD1L, PKP2, SCN1B, SCN3B, SCN5A
35sodium ion transmembrane transportGO:003572510.3HCN4, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
36ventricular cardiac muscle cell action potentialGO:008600510.3GPD1L, KCNH2, KCNQ1, PKP2, SCN3B, SCN5A
37regulation of potassium ion transmembrane transportGO:190137910.3KCNE3, KCNH2
38calcium ion transmembrane transportGO:007058810.2CACNA1C, CACNA2D1, CACNB2, TRPM4
39regulation of ion transmembrane transportGO:003476510.1CACNA1C, CACNA2D1, HCN4, KCND3, KCNJ8, SCN10A
40regulation of heart rate by cardiac conductionGO:008609110.0HCN4, KCNH2, KCNQ1, PKP2, SCN1B, SCN2B
41axon guidanceGO:00074119.9ANK3, CACNA1C, CACNB2, SCN1B, SCN5A
42transmembrane transportGO:00550859.8CACNA1C, HCN4, KCND3, KCNH2, KCNQ1, SCN10A
43regulation of heart rateGO:00020279.8GPD1L, HCN4, RANGRF, SCN10A, SCN5A
44ion transportGO:00068119.7CACNA1C, HCN4, KCND3, KCNE3, KCNH2, KCNQ1
45cardiac muscle contractionGO:00600489.7KCNH2, KCNQ1, SCN1B, SCN2B, SCN3B, SCN5A
46regulation of membrane potentialGO:00423919.6HCN4, KCNH2, RANGRF, TRPM4
47synaptic transmissionGO:00072689.6CACNA1C, CACNB2, HCN4, KCND3, KCNH2, KCNJ8

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activity involved in Purkinje myocyte action potentialGO:008606210.8SCN1B, SCN5A
2inward rectifier potassium channel activityGO:000524210.7KCNH2, KCNJ8
3voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:008600810.7KCNH2, KCNQ1
4voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:190228210.7KCNH2, KCNQ1
5delayed rectifier potassium channel activityGO:000525110.6KCND3, KCNH2, KCNQ1
6voltage-gated sodium channel activity involved in cardiac muscle cell action potentialGO:008600610.5SCN1B, SCN2B, SCN3B, SCN5A
7voltage-gated potassium channel activityGO:000524910.5HCN4, KCNE3, KCNH2, KCNQ1
8high voltage-gated calcium channel activityGO:000833110.4CACNA1C, CACNB2
9voltage-gated sodium channel activityGO:000524810.3HCN4, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
10voltage-gated calcium channel activityGO:000524510.3CACNA1C, CACNA2D1, CACNB2
11sodium channel regulator activityGO:001708010.2GPD1L, PKP2, RANGRF, SCN1B, SCN2B, SCN3B
12scaffold protein bindingGO:009711010.0KCNH2, KCNQ1, SCN5A
13calmodulin bindingGO:00055169.7CACNA1C, KCNQ1, SCN5A, TRPM4
14ion channel activityGO:00052169.5CACNA1C, HCN4, KCND3, KCNH2, KCNQ1, SCN10A
15ion channel bindingGO:00443259.3ANK3, GPD1L, KCND3, KCNQ1, PKP2, RANGRF

Sources for Brugada Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet