MCID: BRG001
MIFTS: 56

Brugada Syndrome malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Brugada Syndrome

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Sources:
9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Brugada Syndrome, Aliases & Descriptions:

Name: Brugada Syndrome 9 19 41 20 21 11 43 47 22 60
Sudden Unexpected Nocturnal Death Syndrome 19 41 21 60
Sudden Unexplained Nocturnal Death Syndrome 41 47 60
Idiopathic Ventricular Fibrillation, Brugada Type 41 47
Pokkuri Death Syndrome 41 47
Dream Disease 41 47
 
Bangungut 41 47
Sunds 41 47
Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome 41
Sudden Unexplained Death Syndrome 21
Suds 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

47
brugada syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult


External Ids:

Disease Ontology9 DOID:0050451
MeSH33 D053840
Orphanet47 130
MESH via Orphanet34 D053840
ICD10 via Orphanet26 I47.2
UMLS via Orphanet61 C1142166

Summaries for Brugada Syndrome

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NIH Rare Diseases:41 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 atrial fibrillation. An important gene associated with Brugada Syndrome is SCN1B (sodium channel, voltage-gated, type I, beta subunit), and among its related pathways are Sodium channels and transporters inward current and Potassium transporters inward current. The compounds nisoldipine and nilvadipine have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and eye, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

Disease Ontology:9 A heart conduction disease that is characterized by abnormal electrocardiogram (ecg) findings and an increased risk of sudden cardiac death.

Genetics Home Reference:21 Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to uncoordinated electrical activity in the heart's lower chambers (ventricles), 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:63 Brugada syndrome is a genetic disease that is characterised by abnormal electrocardiogram (ECG) findings... more...

GeneReviews summary for brugada

Related Diseases for Brugada Syndrome

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Diseases in the Brugada Syndrome family:

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 58)
idRelated DiseaseScoreTop Affiliating Genes
1brugada syndrome 131.5SCN5A
2atrial fibrillation31.4KCNH2, SCN5A
3right bundle branch block31.3TRPM4, SCN5A
4sick sinus syndrome31.0SCN5A, HCN4
5spinocerebellar ataxia30.6KCNH2, SCN5A
6sudden infant death syndrome30.5SCN5A, KCNH2, GPD1L
7long qt syndrome30.2CACNA1C, SCN5A, SCN4B, KCND3, KCNE2, KCNE3
8syncope10.6
9brugada syndrome 210.5
10brugada syndrome 410.5
11brugada syndrome 710.5
12brugada syndrome 310.5
13brugada syndrome 610.5
14brugada syndrome 810.5
15brugada syndrome 510.5
16sick sinus syndrome 210.4HCN4
17wolff-parkinson-white syndrome10.4
18hypokalemia10.4
19atrioventricular block10.4KCNH2, SCN5A
20familial atrial fibrillation10.3KCNE2, SCN5A
21hypokalemic periodic paralysis, type 110.3CACNA1C, KCNE3
22cardiac conduction defect10.3
23arrhythmogenic right ventricular cardiomyopathy10.3
24short qt syndrome10.3
25ischemia10.3
26catecholaminergic polymorphic ventricular tachycardia10.3
27scn5a-related brugada syndrome10.3
28autonomic dysfunction10.3
29epilepsy syndrome10.2SCN2B, KCNH2
30long qt syndrome 110.2KCNH2, KCNE2, SCN5A
31sleep disorder10.2
32left ventricular noncompaction10.2
33ataxia10.2
34timothy syndrome10.2CACNA1C, CACNB2, SCN4B
35sudden cardiac death multi-gene panels10.1KCNH2, SCN5A
36congenital heart disease10.1KCNE2, KCNH2, SCN5A
37congenital heart block10.1SCN5A, SCN4B, KCNE2
38cholangiocarcinoma10.0
39leukemia10.0
40pemphigus vulgaris10.0
41diabetic ketoacidosis10.0
42pemphigus10.0
43neuronitis10.0
44dyspepsia10.0
45hypercalcemia10.0
46cerebritis10.0
47shigellosis10.0
48autonomic neuropathy10.0
49cellulitis10.0
50influenza10.0

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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Drug clinical trials:

Search ClinicalTrials for Brugada Syndrome

Search NIH Clinical Center for Brugada Syndrome

Genetic Tests for Brugada Syndrome

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Genetic tests related to Brugada Syndrome:

id Genetic test Affiliating Genes
1 Brugada Syndrome Multi-Gene Panels20
2 Brugada Syndrome20 22 SCN5A

Anatomical Context for Brugada Syndrome

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MalaCards organs/tissues related to Brugada Syndrome:

31
Heart, Testes, Eye, Brain, Myeloid

Animal Models for Brugada Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Brugada Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.9TRPM4, KCNH2, KCNJ8, KCND3, HCN4, SCN5A
2MP:00053767.6KCNE3, KCNE2, HCN4, GPD1, CACNB2, CACNA1C

Publications for Brugada Syndrome

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Articles related to Brugada Syndrome:

(show top 50)    (show all 629)
idTitleAuthorsYear
1
Multiple lithium-dependent Brugada syndrome unmasking events in a bipolar patient. (25678966)
2015
2
VERP in Brugada syndrome - Very effective risk predictor? (25731832)
2015
3
Enhanced Classification of Brugada Syndrome- and Long QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Nav1.5 Cardiac Sodium Channel. (25904541)
2015
4
Usefulness of patient's history and non-invasive electrocardiographic parameters in prediction of ajmaline test results in patients with suspected Brugada syndrome. (25395941)
2014
5
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. (24136861)
2014
6
Clinical Characteristics, Management and Prognosis of Elderly Patients with Brugada Syndrome. (24400668)
2014
7
Clinic and genetic polymorphism of Brugada syndrome in Russian patients, caused by mutation in SCN5A gene]. (23503384)
2013
8
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
9
Brugada burden in Brugada syndrome: the way to go in risk stratification? (23583498)
2013
10
Ventricular fibrillation with a 2:1 conduction block over the right ventricle in a Brugada syndrome patient. (24065342)
2013
11
Very prolonged episode of self-terminating ventricular fibrillation in a patient with Brugada syndrome. (24267814)
2013
12
Brugada syndrome in a family with a high mortality rate: a case report. (23506330)
2013
13
Drug-induced brugada syndrome by noncardiac agents. (23992531)
2013
14
Haemochromatosis, sinus node dysfunction and Brugada syndrome--a mAcnage a trois of findings in one and the same patient: coincidence or causality? (22641986)
2012
15
Brugada syndrome 2012. (22789973)
2012
16
Use of implantable loop recorders in patients with Brugada syndrome and suspected risk of ventricular arrhythmia. (21979995)
2012
17
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
18
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
19
Coexisting early repolarization pattern and Brugada syndrome: recognition of potentially overlapping entities. (22178622)
2012
20
An atypical case of Brugada syndrome. (22008499)
2011
21
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
22
Anesthetic management of patients with Brugada syndrome: a case series and literature review. (21698509)
2011
23
Role of the R1135H KCNH2 mutation in Brugada syndrome. (19174314)
2010
24
Local conduction block of the atria by premature stimulus in a patient with Brugada syndrome. (19698955)
2010
25
Brugada syndrome: Controversies in Risk stratification and Management. (20930958)
2010
26
Ventricular flutter in a child with Brugada syndrome. (20371143)
2010
27
Mode of onset of ventricular fibrillation in patients with early repolarization pattern vs. Brugada syndrome. (19880418)
2010
28
Brugada syndrome revealed by vertigo caused by cerebellar infarction. (20298423)
2010
29
The SCN5A gene in Brugada syndrome: mutations, variants, missense and nonsense. What's a clinician to do? (20129285)
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:

6 (show all 243)
id Gene Variation Type Significance SNP ID Assembly Location
1CACNA1CNM_000719.6(CACNA1C): c.1468G> A (p.Gly490Arg)single nucleotide variantPathogenicrs121912775GRCh37Chr 12, 2659186: 2659186
2CACNA1CNM_000719.6(CACNA1C): c.116C> T (p.Ala39Val)single nucleotide variantPathogenicrs121912776GRCh37Chr 12, 2224456: 2224456
3SCN3BNM_018400.3(SCN3B): c.29T> C (p.Leu10Pro)single nucleotide variantPathogenicrs121918282GRCh37Chr 11, 123524481: 123524481
4SCN5ANM_000335.4(SCN5A): c.53G> A (p.Arg18Gln)single nucleotide variantPathogenicrs41311087GRCh37Chr 3, 38674746: 38674746
5SCN5ANM_000335.4(SCN5A): c.5491C> G (p.Gln1831Glu)single nucleotide variantPathogenicrs199473320GRCh37Chr 3, 38592369: 38592369
6HCN4HCN4, 4-BP INS, GTGAinsertionPathogenic
7KCNE3NM_005472.4(KCNE3): c.296G> A (p.Arg99His)single nucleotide variantPathogenicrs121908441GRCh37Chr 11, 74168313: 74168313
8CACNA1CNM_000719.6(CACNA1C): c.3343G> A (p.Glu1115Lys)single nucleotide variantPathogenicrs199473391GRCh37Chr 12, 2716283: 2716283
9NM_000719.6(CACNA1C): c.6040G> A (p.Val2014Ile)single nucleotide variantPathogenicrs199473660GRCh37Chr 12, 2797868: 2797868
10CACNA1CNM_000719.6(CACNA1C): c.6388G> A (p.Asp2130Asn)single nucleotide variantPathogenicrs199473392GRCh37Chr 12, 2800336: 2800336
11SCN5ANM_000335.4(SCN5A): c.1007C> T (p.Pro336Leu)single nucleotide variantPathogenicrs199473093GRCh37Chr 3, 38648293: 38648293
12SCN5ANM_000335.4(SCN5A): c.103G> A (p.Gly35Ser)single nucleotide variantPathogenicrs199473552GRCh37Chr 3, 38674696: 38674696
13SCN5ANM_000335.4(SCN5A): c.1052G> A (p.Gly351Asp)single nucleotide variantPathogenicrs199473095GRCh37Chr 3, 38648248: 38648248
14SCN5ANM_000335.4(SCN5A): c.1052G> T (p.Gly351Val)single nucleotide variantPathogenicrs199473095GRCh37Chr 3, 38648248: 38648248
15SCN5ANM_000335.4(SCN5A): c.1058C> T (p.Thr353Ile)single nucleotide variantPathogenicrs199473096GRCh37Chr 3, 38648242: 38648242
16SCN5ANM_000335.4(SCN5A): c.1066G> A (p.Asp356Asn)single nucleotide variantPathogenicrs199473565GRCh37Chr 3, 38648234: 38648234
17SCN5ANM_000335.4(SCN5A): c.1100G> T (p.Arg367Leu)single nucleotide variantPathogenicrs28937318GRCh37Chr 3, 38648200: 38648200
18SCN5ANM_000335.4(SCN5A): c.1106T> A (p.Met369Lys)single nucleotide variantPathogenicrs199473098GRCh37Chr 3, 38648194: 38648194
19SCN5ANM_000335.4(SCN5A): c.1120T> G (p.Trp374Gly)single nucleotide variantPathogenicrs199473566GRCh37Chr 3, 38648180: 38648180
20SCN5ANM_000335.4(SCN5A): c.1127G> A (p.Arg376His)single nucleotide variantPathogenicrs199473101GRCh37Chr 3, 38648173: 38648173
21SCN5ANM_000335.4(SCN5A): c.1156G> A (p.Gly386Arg)single nucleotide variantPathogenicrs199473102GRCh37Chr 3, 38647624: 38647624
22SCN5ANM_000335.4(SCN5A): c.1157G> A (p.Gly386Glu)single nucleotide variantPathogenicrs199473567GRCh37Chr 3, 38647623: 38647623
23SCN5ANM_000335.4(SCN5A): c.1186G> C (p.Val396Leu)single nucleotide variantPathogenicrs199473104GRCh37Chr 3, 38647594: 38647594
24SCN5ANM_000335.4(SCN5A): c.1187T> C (p.Val396Ala)single nucleotide variantPathogenicrs199473103GRCh37Chr 3, 38647593: 38647593
25SCN5ANM_000335.4(SCN5A): c.1217A> G (p.Asn406Ser)single nucleotide variantPathogenicrs199473568GRCh37Chr 3, 38647563: 38647563
26SCN5ANM_000335.4(SCN5A): c.1315G> A (p.Glu439Lys)single nucleotide variantPathogenicrs199473570GRCh37Chr 3, 38647465: 38647465
27SCN5ANM_000335.4(SCN5A): c.1502A> G (p.Asp501Gly)single nucleotide variantPathogenicrs199473117GRCh37Chr 3, 38646236: 38646236
28SCN5ANM_000335.4(SCN5A): c.1577G> A (p.Arg526His)single nucleotide variantPathogenicrs45627438GRCh37Chr 3, 38645516: 38645516
29SCN5ANM_000335.4(SCN5A): c.1595T> G (p.Phe532Cys)single nucleotide variantPathogenicrs199473573GRCh37Chr 3, 38645498: 38645498
30SCN5ANM_000335.4(SCN5A): c.1629T> A (p.Phe543Leu)single nucleotide variantPathogenicrs199473122GRCh37Chr 3, 38645464: 38645464
31SCN5ANM_000335.4(SCN5A): c.1651G> A (p.Ala551Thr)single nucleotide variantPathogenicrs199473574GRCh37Chr 3, 38645442: 38645442
32SCN5ANM_000335.4(SCN5A): c.1654G> A (p.Gly552Arg)single nucleotide variantPathogenicrs3918389GRCh37Chr 3, 38645439: 38645439
33SCN5ANM_000335.4(SCN5A): c.1663G> A (p.Glu555Lys)single nucleotide variantLikely pathogenicrs199473123GRCh37Chr 3, 38645430: 38645430
34SCN5ANM_000335.4(SCN5A): c.1700T> A (p.Leu567Gln)single nucleotide variantPathogenicrs199473124GRCh37Chr 3, 38645393: 38645393
35SCN5ANM_000335.4(SCN5A): c.1756G> A (p.Ala586Thr)single nucleotide variantPathogenicrs199473129GRCh37Chr 3, 38645337: 38645337
36SCN5ANM_000335.4(SCN5A): c.1855C> T (p.Leu619Phe)single nucleotide variantPathogenicrs199473133GRCh37Chr 3, 38645238: 38645238
37SCN5ANM_000335.4(SCN5A): c.1858C> T (p.Arg620Cys)single nucleotide variantPathogenicrs199473577GRCh37Chr 3, 38645235: 38645235
38SCN5ANM_000335.4(SCN5A): c.1895C> T (p.Thr632Met)single nucleotide variantPathogenicrs199473134GRCh37Chr 3, 38640537: 38640537
39SCN5ANM_000335.4(SCN5A): c.1918C> G (p.Pro640Ala)single nucleotide variantPathogenicrs199473137GRCh37Chr 3, 38640514: 38640514
40SCN5ANM_000335.4(SCN5A): c.1981C> T (p.Arg661Trp)single nucleotide variantPathogenicrs199473139GRCh37Chr 3, 38640451: 38640451
41SCN5ANM_000335.4(SCN5A): c.2042A> C (p.His681Pro)single nucleotide variantPathogenicrs199473143GRCh37Chr 3, 38639440: 38639440
42SCN5ANM_000335.4(SCN5A): c.2047T> G (p.Cys683Gly)single nucleotide variantPathogenicrs199473144GRCh37Chr 3, 38639435: 38639435
43SCN5ANM_000335.4(SCN5A): c.210T> G (p.Asn70Lys)single nucleotide variantPathogenicrs199473050GRCh37Chr 3, 38674589: 38674589
44SCN5ANM_000335.4(SCN5A): c.2150C> T (p.Pro717Leu)single nucleotide variantPathogenicrs199473149GRCh37Chr 3, 38639332: 38639332
45SCN5ANM_000335.4(SCN5A): c.2203G> A (p.Ala735Thr)single nucleotide variantPathogenicrs199473151GRCh37Chr 3, 38639279: 38639279
46SCN5ANM_000335.4(SCN5A): c.2204C> A (p.Ala735Glu)single nucleotide variantPathogenicrs137854611GRCh37Chr 3, 38639278: 38639278
47SCN5ANM_000335.4(SCN5A): c.2236G> A (p.Glu746Lys)single nucleotide variantPathogenicrs199473582GRCh37Chr 3, 38639246: 38639246
48SCN5ANM_000335.4(SCN5A): c.2254G> A (p.Gly752Arg)single nucleotide variantPathogenicrs199473153GRCh37Chr 3, 38639228: 38639228
49SCN5ANM_000335.4(SCN5A): c.2273G> A (p.Gly758Glu)single nucleotide variantPathogenicrs199473154GRCh37Chr 3, 38629054: 38629054
50SCN5ANM_000335.4(SCN5A): c.2291T> G (p.Met764Arg)single nucleotide variantPathogenicrs199473156GRCh37Chr 3, 38629036: 38629036
51SCN5ANM_000335.4(SCN5A): c.2317C> T (p.Pro773Ser)single nucleotide variantPathogenicrs199473158GRCh37Chr 3, 38629010: 38629010
52SCN5ANM_000335.4(SCN5A): c.2365G> A (p.Val789Ile)single nucleotide variantPathogenicrs199473159GRCh37Chr 3, 38628962: 38628962
53SCN5ANM_000335.4(SCN5A): c.2441G> A (p.Arg814Gln)single nucleotide variantPathogenicrs199473584GRCh37Chr 3, 38627528: 38627528
54SCN5ANM_000335.4(SCN5A): c.2504C> T (p.Ser835Leu)single nucleotide variantPathogenicrs199473163GRCh37Chr 3, 38627465: 38627465
55SCN5ANM_000335.4(SCN5A): c.250G> A (p.Asp84Asn)single nucleotide variantPathogenicrs199473051GRCh37Chr 3, 38674549: 38674549
56SCN5ANM_000335.4(SCN5A): c.2516T> C (p.Leu839Pro)single nucleotide variantPathogenicrs199473164GRCh37Chr 3, 38627453: 38627453
57SCN5ANM_000335.4(SCN5A): c.2551T> C (p.Phe851Leu)single nucleotide variantPathogenicrs199473586GRCh37Chr 3, 38627418: 38627418
58SCN5ANM_000335.4(SCN5A): c.2553C> A (p.Phe851Leu)single nucleotide variantPathogenicrs199473340GRCh37Chr 3, 38627416: 38627416
59SCN5ANM_000335.4(SCN5A): c.2599G> C (p.Glu867Gln)single nucleotide variantPathogenicrs199473167GRCh37Chr 3, 38627370: 38627370
60SCN5ANM_000335.4(SCN5A): c.2632C> T (p.Arg878Cys)single nucleotide variantPathogenicrs199473168GRCh37Chr 3, 38627337: 38627337
61SCN5ANM_000335.4(SCN5A): c.2633G> A (p.Arg878His)single nucleotide variantPathogenicrs199473587GRCh37Chr 3, 38627336: 38627336
62SCN5ANM_000335.4(SCN5A): c.2657A> C (p.His886Pro)single nucleotide variantPathogenicrs199473169GRCh37Chr 3, 38627312: 38627312
63SCN5ANM_000335.4(SCN5A): c.2674T> A (p.Phe892Ile)single nucleotide variantPathogenicrs199473170GRCh37Chr 3, 38627295: 38627295
64SCN5ANM_000335.4(SCN5A): c.2677C> T (p.Arg893Cys)single nucleotide variantPathogenicrs199473171GRCh37Chr 3, 38627292: 38627292
65SCN5ANM_000335.4(SCN5A): c.2678G> A (p.Arg893His)single nucleotide variantPathogenicrs199473172GRCh37Chr 3, 38627291: 38627291
66SCN5ANM_000335.4(SCN5A): c.2686T> A (p.Cys896Ser)single nucleotide variantPathogenicrs199473173GRCh37Chr 3, 38627283: 38627283
67SCN5ANM_000335.4(SCN5A): c.2701G> A (p.Glu901Lys)single nucleotide variantPathogenicrs199473174GRCh37Chr 3, 38627268: 38627268
68SCN5ANM_000335.4(SCN5A): c.2729C> T (p.Ser910Leu)single nucleotide variantPathogenicrs199473175GRCh37Chr 3, 38627240: 38627240
69SCN5ANM_000335.4(SCN5A): c.2743T> C (p.Cys915Arg)single nucleotide variantPathogenicrs199473588GRCh37Chr 3, 38627226: 38627226
70SCN5ANM_000335.4(SCN5A): c.2750T> G (p.Leu917Arg)single nucleotide variantPathogenicrs199473176GRCh37Chr 3, 38627219: 38627219
71SCN5ANM_000335.4(SCN5A): c.2780A> G (p.Asn927Ser)single nucleotide variantPathogenicrs199473589GRCh37Chr 3, 38627189: 38627189
72SCN5ANM_000335.4(SCN5A): c.2783T> C (p.Leu928Pro)single nucleotide variantPathogenicrs199473178GRCh37Chr 3, 38627186: 38627186
73SCN5ANM_000335.4(SCN5A): c.278T> C (p.Phe93Ser)single nucleotide variantPathogenicrs199473052GRCh37Chr 3, 38671916: 38671916
74SCN5ANM_000335.4(SCN5A): c.2804T> C (p.Leu935Pro)single nucleotide variantPathogenicrs199473179GRCh37Chr 3, 38622846: 38622846
75SCN5ANM_000335.4(SCN5A): c.281T> G (p.Ile94Ser)single nucleotide variantPathogenicrs199473053GRCh37Chr 3, 38671913: 38671913
76SCN5ANM_000335.4(SCN5A): c.283G> A (p.Val95Ile)single nucleotide variantPathogenicrs199473054GRCh37Chr 3, 38671911: 38671911
77SCN5ANM_000335.4(SCN5A): c.2893C> T (p.Arg965Cys)single nucleotide variantPathogenicrs199473180GRCh37Chr 3, 38622757: 38622757
78SCN5ANM_000335.4(SCN5A): c.2894G> A (p.Arg965His)single nucleotide variantPathogenicrs199473181GRCh37Chr 3, 38622756: 38622756
79SCN5ANM_000335.4(SCN5A): c.2989G> A (p.Ala997Thr)single nucleotide variantPathogenicrs137854609GRCh37Chr 3, 38622661: 38622661
80SCN5ANM_000335.4(SCN5A): c.3068G> A (p.Arg1023His)single nucleotide variantPathogenicrs199473592GRCh37Chr 3, 38622582: 38622582
81SCN5ANM_000335.4(SCN5A): c.310C> T (p.Arg104Trp)single nucleotide variantPathogenicrs199473055GRCh37Chr 3, 38671884: 38671884
82SCN5ANM_000335.4(SCN5A): c.311G> A (p.Arg104Gln)single nucleotide variantPathogenicrs199473554GRCh37Chr 3, 38671883: 38671883
83SCN5ANM_000335.4(SCN5A): c.3164A> G (p.Asp1055Gly)single nucleotide variantPathogenicrs199473593GRCh37Chr 3, 38622486: 38622486
84SCN5ANM_000335.4(SCN5A): c.3233C> A (p.Ser1078Tyr)single nucleotide variantPathogenicrs199473188GRCh37Chr 3, 38620979: 38620979
85SCN5ANM_000335.4(SCN5A): c.327C> A (p.Asn109Lys)single nucleotide variantPathogenicrs199473056GRCh37Chr 3, 38671867: 38671867
86SCN5ANM_000335.4(SCN5A): c.3335C> T (p.Ala1112Val)single nucleotide variantPathogenicrs199473194GRCh37Chr 3, 38620877: 38620877
87SCN5ANM_000335.4(SCN5A): c.3416G> C (p.Ser1139Thr)single nucleotide variantPathogenicrs199473199GRCh37Chr 3, 38618244: 38618244
88SCN5ANM_000335.4(SCN5A): c.361C> T (p.Arg121Trp)single nucleotide variantPathogenicrs199473556GRCh37Chr 3, 38671833: 38671833
89SCN5ANM_000335.4(SCN5A): c.362G> A (p.Arg121Gln)single nucleotide variantPathogenicrs199473058GRCh37Chr 3, 38671832: 38671832
90SCN5ANM_000335.4(SCN5A): c.3653G> A (p.Ser1218Asn)single nucleotide variantPathogenicrs199473597GRCh37Chr 3, 38616798: 38616798
91SCN5ANM_000335.4(SCN5A): c.3679T> C (p.Tyr1227His)single nucleotide variantPathogenicrs199473205GRCh37Chr 3, 38608058: 38608058
92SCN5ANM_000335.4(SCN5A): c.3691C> T (p.Arg1231Trp)single nucleotide variantLikely pathogenic, Pathogenicrs199473207GRCh37Chr 3, 38608046: 38608046
93SCN5ANM_000335.4(SCN5A): c.3692G> A (p.Arg1231Gln)single nucleotide variantPathogenicrs199473206GRCh37Chr 3, 38608045: 38608045
94SCN5ANM_000335.4(SCN5A): c.3704A> G (p.Lys1235Arg)single nucleotide variantLikely pathogenicrs199473209GRCh37Chr 3, 38608033: 38608033
95SCN5ANM_000335.4(SCN5A): c.3705G> T (p.Lys1235Asn)single nucleotide variantPathogenicrs199473208GRCh37Chr 3, 38608032: 38608032
96SCN5ANM_000335.4(SCN5A): c.3713T> C (p.Leu1238Pro)single nucleotide variantPathogenicrs199473210GRCh37Chr 3, 38608024: 38608024
97SCN5ANM_000335.4(SCN5A): c.3715G> C (p.Glu1239Gln)single nucleotide variantPathogenicrs199473211GRCh37Chr 3, 38608022: 38608022
98SCN5ANM_000335.4(SCN5A): c.3724G> A (p.Asp1242Asn)single nucleotide variantPathogenicrs199473599GRCh37Chr 3, 38608013: 38608013
99SCN5ANM_000335.4(SCN5A): c.3743T> A (p.Val1248Asp)single nucleotide variantPathogenicrs199473213GRCh37Chr 3, 38607994: 38607994
100SCN5ANM_000335.4(SCN5A): c.3755A> G (p.Glu1252Gly)single nucleotide variantPathogenicrs199473214GRCh37Chr 3, 38607982: 38607982
101SCN5ANM_000335.4(SCN5A): c.376A> G (p.Lys126Glu)single nucleotide variantPathogenicrs185492581GRCh37Chr 3, 38671818: 38671818
102SCN5ANM_000335.4(SCN5A): c.3810G> C (p.Trp1270Cys)single nucleotide variantPathogenicrs199473601GRCh37Chr 3, 38607927: 38607927
103SCN5ANM_000335.4(SCN5A): c.3838G> T (p.Val1280Phe)single nucleotide variantLikely pathogenicrs199473602GRCh37Chr 3, 38604028: 38604028
104SCN5ANM_000335.4(SCN5A): c.3860C> G (p.Ala1287Gly)single nucleotide variantPathogenicrs199473217GRCh37Chr 3, 38604006: 38604006
105SCN5ANM_000335.4(SCN5A): c.3919C> T (p.Leu1307Phe)single nucleotide variantPathogenicrs41313031GRCh37Chr 3, 38603947: 38603947
106SCN5ANM_000335.4(SCN5A): c.3929T> C (p.Leu1310Pro)single nucleotide variantPathogenicrs199473219GRCh37Chr 3, 38603937: 38603937
107SCN5ANM_000335.4(SCN5A): c.3953G> T (p.Gly1318Val)single nucleotide variantPathogenicrs199473220GRCh37Chr 3, 38603913: 38603913
108SCN5ANM_000335.4(SCN5A): c.3965T> G (p.Val1322Gly)single nucleotide variantPathogenicrs199473221GRCh37Chr 3, 38601915: 38601915
109SCN5ANM_000335.4(SCN5A): c.3992C> T (p.Pro1331Leu)single nucleotide variantPathogenicrs199473225GRCh37Chr 3, 38601888: 38601888
110SCN5ANM_000335.4(SCN5A): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs199473550GRCh37Chr 3, 38674796: 38674796
111SCN5ANM_000335.4(SCN5A): c.4015G> A (p.Val1339Ile)single nucleotide variantPathogenicrs199473605GRCh37Chr 3, 38601865: 38601865
112SCN5ANM_000335.4(SCN5A): c.4027T> C (p.Phe1343Leu)single nucleotide variantPathogenicrs199473228GRCh37Chr 3, 38601853: 38601853
113SCN5ANM_000335.4(SCN5A): c.4028T> C (p.Phe1343Ser)single nucleotide variantPathogenicrs199473229GRCh37Chr 3, 38601852: 38601852
114SCN5ANM_000335.4(SCN5A): c.4032G> T (p.Trp1344Cys)single nucleotide variantPathogenicrs199473606GRCh37Chr 3, 38601848: 38601848
115SCN5ANM_000335.4(SCN5A): c.4033C> A (p.Leu1345Ile)single nucleotide variantPathogenicrs199473230GRCh37Chr 3, 38601847: 38601847
116SCN5ANM_000335.4(SCN5A): c.4034T> C (p.Leu1345Pro)single nucleotide variantPathogenicrs199473231GRCh37Chr 3, 38601846: 38601846
117SCN5ANM_000335.4(SCN5A): c.4046T> C (p.Ile1349Thr)single nucleotide variantPathogenicrs199473607GRCh37Chr 3, 38601834: 38601834
118SCN5ANM_000335.4(SCN5A): c.4049T> G (p.Met1350Arg)single nucleotide variantPathogenicrs199473232GRCh37Chr 3, 38601831: 38601831
119SCN5ANM_000335.4(SCN5A): c.4054G> A (p.Val1352Met)single nucleotide variantPathogenicrs199473233GRCh37Chr 3, 38601826: 38601826
120SCN5ANM_000335.4(SCN5A): c.4069G> T (p.Gly1357Trp)single nucleotide variantPathogenicrs199473234GRCh37Chr 3, 38601811: 38601811
121SCN5ANM_000335.4(SCN5A): c.4074G> T (p.Lys1358Asn)single nucleotide variantPathogenicrs199473235GRCh37Chr 3, 38601806: 38601806
122SCN5ANM_000335.4(SCN5A): c.4076T> G (p.Phe1359Cys)single nucleotide variantPathogenicrs199473236GRCh37Chr 3, 38601804: 38601804
123SCN5ANM_000335.4(SCN5A): c.407T> C (p.Leu136Pro)single nucleotide variantPathogenicrs199473557GRCh37Chr 3, 38663966: 38663966
124SCN5ANM_000335.4(SCN5A): c.4085G> A (p.Cys1362Tyr)single nucleotide variantPathogenicrs199473237GRCh37Chr 3, 38601795: 38601795
125SCN5ANM_000335.4(SCN5A): c.4137C> G (p.Asn1379Lys)single nucleotide variantPathogenicrs199473238GRCh37Chr 3, 38601743: 38601743
126SCN5ANM_000335.4(SCN5A): c.4142G> T (p.Ser1381Ile)single nucleotide variantPathogenicrs199473608GRCh37Chr 3, 38601738: 38601738
127SCN5ANM_000335.4(SCN5A): c.4210G> A (p.Val1404Met)single nucleotide variantPathogenicrs199473239GRCh37Chr 3, 38601670: 38601670
128SCN5ANM_000335.4(SCN5A): c.4210G> C (p.Val1404Leu)single nucleotide variantPathogenicrs199473239GRCh37Chr 3, 38601670: 38601670
129SCN5ANM_000335.4(SCN5A): c.4213G> A (p.Gly1405Arg)single nucleotide variantPathogenicrs199473240GRCh37Chr 3, 38601667: 38601667
130SCN5ANM_000335.4(SCN5A): c.4214G> A (p.Gly1405Glu)single nucleotide variantPathogenicrs199473609GRCh37Chr 3, 38601666: 38601666
131SCN5ANM_000335.4(SCN5A): c.4223A> G (p.Tyr1408Cys)single nucleotide variantPathogenicrs199473610GRCh37Chr 3, 38601657: 38601657
132SCN5ANM_000335.4(SCN5A): c.4231C> T (p.Leu1411Phe)single nucleotide variantPathogenicrs199473241GRCh37Chr 3, 38601649: 38601649
133SCN5ANM_000335.4(SCN5A): c.4252A> G (p.Lys1418Glu)single nucleotide variantPathogenicrs199473242GRCh37Chr 3, 38598766: 38598766
134SCN5ANM_000335.4(SCN5A): c.4255G> C (p.Gly1419Arg)single nucleotide variantPathogenicrs199473611GRCh37Chr 3, 38598763: 38598763
135SCN5ANM_000335.4(SCN5A): c.4256G> T (p.Gly1419Val)single nucleotide variantLikely pathogenicrs199473243GRCh37Chr 3, 38598762: 38598762
136SCN5ANM_000335.4(SCN5A): c.4276G> T (p.Ala1426Ser)single nucleotide variantPathogenicrs199473244GRCh37Chr 3, 38598742: 38598742
137SCN5ANM_000335.4(SCN5A): c.4280C> T (p.Ala1427Val)single nucleotide variantPathogenicrs199473612GRCh37Chr 3, 38598738: 38598738
138SCN5ANM_000335.4(SCN5A): c.4291A> G (p.Arg1431Gly)single nucleotide variantPathogenicrs199473245GRCh37Chr 3, 38598727: 38598727
139SCN5ANM_000335.4(SCN5A): c.4295G> T (p.Gly1432Val)single nucleotide variantPathogenicrs199473247GRCh37Chr 3, 38598723: 38598723
140SCN5ANM_000335.4(SCN5A): c.4310C> T (p.Pro1437Leu)single nucleotide variantPathogenicrs199473248GRCh37Chr 3, 38598056: 38598056
141SCN5ANM_000335.4(SCN5A): c.4318G> C (p.Glu1440Gln)single nucleotide variantPathogenicrs199473249GRCh37Chr 3, 38598048: 38598048
142SCN5ANM_000335.4(SCN5A): c.4339A> C (p.Ile1447Leu)single nucleotide variantPathogenicrs199473250GRCh37Chr 3, 38598027: 38598027
143SCN5ANM_000335.4(SCN5A): c.4340T> C (p.Ile1447Thr)single nucleotide variantPathogenicrs199473251GRCh37Chr 3, 38598026: 38598026
144SCN5ANM_000335.4(SCN5A): c.4343A> G (p.Tyr1448Cys)single nucleotide variantPathogenicrs199473613GRCh37Chr 3, 38598023: 38598023
145SCN5ANM_000335.4(SCN5A): c.4349T> A (p.Val1450Asp)single nucleotide variantPathogenicrs199473252GRCh37Chr 3, 38598017: 38598017
146SCN5ANM_000335.4(SCN5A): c.436G> A (p.Val146Met)single nucleotide variantPathogenicrs199473061GRCh37Chr 3, 38663937: 38663937
147SCN5ANM_000335.4(SCN5A): c.4384A> T (p.Asn1462Tyr)single nucleotide variantPathogenicrs199473614GRCh37Chr 3, 38597982: 38597982
148SCN5ANM_000335.4(SCN5A): c.4399G> T (p.Val1467Phe)single nucleotide variantPathogenicrs199473254GRCh37Chr 3, 38597967: 38597967
149SCN5ANM_000335.4(SCN5A): c.4477T> A (p.Tyr1493Asn)single nucleotide variantPathogenicrs199473261GRCh37Chr 3, 38597209: 38597209
150SCN5ANM_000335.4(SCN5A): c.4498C> G (p.Leu1500Val)single nucleotide variantPathogenicrs199473266GRCh37Chr 3, 38597188: 38597188
151SCN5ANM_000335.4(SCN5A): c.4501G> A (p.Gly1501Ser)single nucleotide variantPathogenicrs199473267GRCh37Chr 3, 38597185: 38597185
152SCN5ANM_000335.4(SCN5A): c.4559T> A (p.Ile1520Lys)single nucleotide variantPathogenicrs199473617GRCh37Chr 3, 38596021: 38596021
153SCN5ANM_000335.4(SCN5A): c.4570G> A (p.Val1524Met)single nucleotide variantPathogenicrs199473269GRCh37Chr 3, 38596010: 38596010
154SCN5ANM_000335.4(SCN5A): c.4577A> G (p.Lys1526Arg)single nucleotide variantPathogenicrs199473270GRCh37Chr 3, 38596003: 38596003
155SCN5ANM_000335.4(SCN5A): c.4639G> A (p.Glu1547Lys)single nucleotide variantPathogenicrs199473271GRCh37Chr 3, 38595941: 38595941
156SCN5ANM_000335.4(SCN5A): c.4654A> C (p.Ser1552Arg)single nucleotide variantPathogenicrs199473272GRCh37Chr 3, 38595926: 38595926
157SCN5ANM_000335.4(SCN5A): c.4702G> C (p.Ala1568Pro)single nucleotide variantPathogenicrs199473273GRCh37Chr 3, 38595878: 38595878
158SCN5ANM_000335.4(SCN5A): c.4709T> G (p.Phe1570Cys)single nucleotide variantPathogenicrs199473274GRCh37Chr 3, 38595871: 38595871
159SCN5ANM_000335.4(SCN5A): c.4717G> A (p.Glu1573Lys)single nucleotide variantPathogenicrs199473620GRCh37Chr 3, 38595863: 38595863
160SCN5ANM_000335.4(SCN5A): c.4742T> C (p.Leu1581Pro)single nucleotide variantPathogenicrs199473275GRCh37Chr 3, 38595838: 38595838
161SCN5ANM_000335.4(SCN5A): c.4744C> T (p.Arg1582Cys)single nucleotide variantPathogenicrs45514691GRCh37Chr 3, 38595836: 38595836
162SCN5ANM_000335.4(SCN5A): c.4745G> A (p.Arg1582His)single nucleotide variantPathogenicrs199473621GRCh37Chr 3, 38595835: 38595835
163SCN5ANM_000335.4(SCN5A): c.4807G> A (p.Val1603Met)single nucleotide variantPathogenicrs199473280GRCh37Chr 3, 38595773: 38595773
164SCN5ANM_000335.4(SCN5A): c.481G> A (p.Glu161Lys)single nucleotide variantPathogenicrs199473062GRCh37Chr 3, 38663892: 38663892
165SCN5ANM_000335.4(SCN5A): c.481G> C (p.Glu161Gln)single nucleotide variantPathogenicrs199473062GRCh37Chr 3, 38663892: 38663892
166SCN5ANM_000335.4(SCN5A): c.4835A> T (p.Gln1612Leu)single nucleotide variantPathogenicrs199473281GRCh37Chr 3, 38593025: 38593025
167SCN5ANM_000335.4(SCN5A): c.4856C> T (p.Thr1619Met)single nucleotide variantPathogenicrs199473282GRCh37Chr 3, 38593004: 38593004
168SCN5ANM_000335.4(SCN5A): c.4882C> G (p.Arg1628Gly)single nucleotide variantPathogenicrs199473284GRCh37Chr 3, 38592978: 38592978
169SCN5ANM_000335.4(SCN5A): c.4883G> A (p.Arg1628Gln)single nucleotide variantPathogenicrs199473623GRCh37Chr 3, 38592977: 38592977
170SCN5ANM_000335.4(SCN5A): c.4922G> A (p.Gly1641Glu)single nucleotide variantPathogenicrs199473624GRCh37Chr 3, 38592938: 38592938
171SCN5ANM_000335.4(SCN5A): c.4943C> T (p.Ala1648Val)single nucleotide variantPathogenicrs199473289GRCh37Chr 3, 38592917: 38592917
172SCN5ANM_000335.4(SCN5A): c.4975A> G (p.Ile1659Val)single nucleotide variantPathogenicrs199473625GRCh37Chr 3, 38592885: 38592885
173SCN5ANM_000335.4(SCN5A): c.4978G> C (p.Gly1660Arg)single nucleotide variantPathogenicrs199473292GRCh37Chr 3, 38592882: 38592882
174SCN5ANM_000335.4(SCN5A): c.4G> A (p.Ala2Thr)single nucleotide variantPathogenicrs199473042GRCh37Chr 3, 38674795: 38674795
175SCN5ANM_000335.4(SCN5A): c.5012C> A (p.Ser1671Tyr)single nucleotide variantPathogenicrs199473626GRCh37Chr 3, 38592848: 38592848
176SCN5ANM_000335.4(SCN5A): c.5035G> A (p.Ala1679Thr)single nucleotide variantPathogenicrs199473294GRCh37Chr 3, 38592825: 38592825
177SCN5ANM_000335.4(SCN5A): c.5089G> A (p.Ala1697Thr)single nucleotide variantPathogenicrs199473295GRCh37Chr 3, 38592771: 38592771
178SCN5ANM_000335.4(SCN5A): c.5115G> C (p.Gln1705His)single nucleotide variantPathogenicrs199473296GRCh37Chr 3, 38592745: 38592745
179SCN5ANM_000335.4(SCN5A): c.5123C> G (p.Thr1708Arg)single nucleotide variantPathogenicrs199473297GRCh37Chr 3, 38592737: 38592737
180SCN5ANM_000335.4(SCN5A): c.5123C> T (p.Thr1708Met)single nucleotide variantPathogenicrs199473297GRCh37Chr 3, 38592737: 38592737
181SCN5ANM_000335.4(SCN5A): c.5131G> A (p.Gly1711Ser)single nucleotide variantPathogenicrs199473298GRCh37Chr 3, 38592729: 38592729
182SCN5ANM_000335.4(SCN5A): c.5138A> G (p.Asp1713Gly)single nucleotide variantPathogenicrs199473628GRCh37Chr 3, 38592722: 38592722
183SCN5ANM_000335.4(SCN5A): c.5161A> G (p.Asn1721Asp)single nucleotide variantPathogenicrs199473299GRCh37Chr 3, 38592699: 38592699
184SCN5ANM_000335.4(SCN5A): c.5179T> C (p.Cys1727Arg)single nucleotide variantPathogenicrs199473302GRCh37Chr 3, 38592681: 38592681
185SCN5ANM_000335.4(SCN5A): c.5181C> G (p.Cys1727Trp)single nucleotide variantPathogenicrs193922726GRCh37Chr 3, 38592679: 38592679
186SCN5ANM_000335.4(SCN5A): c.5215G> A (p.Gly1739Arg)single nucleotide variantPathogenicrs199473304GRCh37Chr 3, 38592645: 38592645
187SCN5ANM_000335.4(SCN5A): c.5224G> A (p.Gly1742Arg)single nucleotide variantLikely pathogenicrs199473305GRCh37Chr 3, 38592636: 38592636
188SCN5ANM_000335.4(SCN5A): c.5225G> A (p.Gly1742Glu)single nucleotide variantPathogenicrs199473629GRCh37Chr 3, 38592635: 38592635
189SCN5ANM_000335.4(SCN5A): c.525G> C (p.Lys175Asn)single nucleotide variantPathogenicrs199473063GRCh37Chr 3, 38662420: 38662420
190SCN5ANM_000335.4(SCN5A): c.5287G> T (p.Val1763Phe)single nucleotide variantPathogenicrs199473309GRCh37Chr 3, 38592573: 38592573
191SCN5ANM_000335.4(SCN5A): c.5318A> G (p.Asn1773Ser)single nucleotide variantPathogenicrs199473313GRCh37Chr 3, 38592542: 38592542
192SCN5ANM_000335.4(SCN5A): c.5333C> T (p.Thr1778Met)single nucleotide variantPathogenicrs199473634GRCh37Chr 3, 38592527: 38592527
193SCN5ANM_000335.4(SCN5A): c.533C> G (p.Ala178Gly)single nucleotide variantPathogenicrs199473065GRCh37Chr 3, 38662412: 38662412
194SCN5ANM_000335.4(SCN5A): c.544T> C (p.Cys182Arg)single nucleotide variantPathogenicrs199473066GRCh37Chr 3, 38662401: 38662401
195SCN5ANM_000335.4(SCN5A): c.5546G> C (p.Cys1849Ser)single nucleotide variantPathogenicrs199473322GRCh37Chr 3, 38592314: 38592314
196SCN5ANM_000335.4(SCN5A): c.554C> T (p.Ala185Val)single nucleotide variantPathogenicrs199473067GRCh37Chr 3, 38662391: 38662391
197SCN5ANM_000335.4(SCN5A): c.5578G> A (p.Val1860Ile)single nucleotide variantPathogenicrs199473636GRCh37Chr 3, 38592282: 38592282
198SCN5ANM_000335.4(SCN5A): c.560C> T (p.Thr187Ile)single nucleotide variantPathogenicrs199473558GRCh37Chr 3, 38662385: 38662385
199SCN5ANM_000335.4(SCN5A): c.5613G> C (p.Lys1871Asn)single nucleotide variantPathogenicrs199473323GRCh37Chr 3, 38592247: 38592247
200SCN5ANM_000335.4(SCN5A): c.5800G> A (p.Gly1934Ser)single nucleotide variantPathogenicrs199473637GRCh37Chr 3, 38592060: 38592060
201SCN5ANM_000335.4(SCN5A): c.5809G> A (p.Glu1937Lys)single nucleotide variantPathogenicrs199473329GRCh37Chr 3, 38592051: 38592051
202SCN5ANM_000335.4(SCN5A): c.5888C> T (p.Ser1963Phe)single nucleotide variantLikely pathogenicrs199473332GRCh37Chr 3, 38591972: 38591972
203SCN5ANM_000335.4(SCN5A): c.5900T> G (p.Ile1967Ser)single nucleotide variantPathogenicrs199473639GRCh37Chr 3, 38591960: 38591960
204SCN5ANM_000335.4(SCN5A): c.611C> T (p.Ala204Val)single nucleotide variantPathogenicrs199473559GRCh37Chr 3, 38662334: 38662334
205SCN5ANM_000335.4(SCN5A): c.635T> A (p.Leu212Gln)single nucleotide variantPathogenicrs199473070GRCh37Chr 3, 38655302: 38655302
206SCN5ANM_000335.4(SCN5A): c.667G> C (p.Val223Leu)single nucleotide variantPathogenicrs199473560GRCh37Chr 3, 38655270: 38655270
207SCN5ANM_000335.4(SCN5A): c.677C> T (p.Ala226Val)single nucleotide variantPathogenicrs199473561GRCh37Chr 3, 38655260: 38655260
208SCN5ANM_000335.4(SCN5A): c.688A> G (p.Ile230Val)single nucleotide variantPathogenicrs199473074GRCh37Chr 3, 38655249: 38655249
209SCN5ANM_000335.4(SCN5A): c.694G> A (p.Val232Ile)single nucleotide variantPathogenicrs45471994GRCh37Chr 3, 38655243: 38655243
210SCN5ANM_000335.4(SCN5A): c.718G> A (p.Val240Met)single nucleotide variantPathogenicrs199473076GRCh37Chr 3, 38651441: 38651441
211SCN5ANM_000335.4(SCN5A): c.808C> A (p.Gln270Lys)single nucleotide variantPathogenicrs199473079GRCh37Chr 3, 38651351: 38651351
212SCN5ANM_000335.4(SCN5A): c.827T> A (p.Leu276Gln)single nucleotide variantPathogenicrs199473081GRCh37Chr 3, 38651332: 38651332
213SCN5ANM_000335.4(SCN5A): c.832C> G (p.His278Asp)single nucleotide variantPathogenicrs199473562GRCh37Chr 3, 38651327: 38651327
214SCN5ANM_000335.4(SCN5A): c.844C> T (p.Arg282Cys)single nucleotide variantPathogenicrs199473082GRCh37Chr 3, 38651315: 38651315
215SCN5ANM_000335.4(SCN5A): c.845G> A (p.Arg282His)single nucleotide variantPathogenicrs199473083GRCh37Chr 3, 38651314: 38651314
216SCN5ANM_000335.4(SCN5A): c.874G> A (p.Gly292Ser)single nucleotide variantPathogenicrs199473085GRCh37Chr 3, 38651285: 38651285
217SCN5ANM_000335.4(SCN5A): c.880G> A (p.Val294Met)single nucleotide variantPathogenicrs199473086GRCh37Chr 3, 38651279: 38651279
218SCN5ANM_000335.4(SCN5A): c.898G> A (p.Val300Ile)single nucleotide variantPathogenicrs199473088GRCh37Chr 3, 38651261: 38651261
219SCN5ANM_000335.4(SCN5A): c.944T> C (p.Leu315Pro)single nucleotide variantPathogenicrs199473564GRCh37Chr 3, 38649696: 38649696
220SCN5ANM_000335.4(SCN5A): c.951G> C (p.Lys317Asn)single nucleotide variantPathogenicrs199473089GRCh37Chr 3, 38649689: 38649689
221SCN5ANM_000335.4(SCN5A): c.955G> A (p.Gly319Ser)single nucleotide variantPathogenicrs199473090GRCh37Chr 3, 38649685: 38649685
222SCN5ANM_000335.4(SCN5A): c.959C> A (p.Thr320Asn)single nucleotide variantPathogenicrs199473091GRCh37Chr 3, 38649681: 38649681
223SCN5ANM_000335.4(SCN5A): c.974T> G (p.Leu325Arg)single nucleotide variantPathogenicrs199473092GRCh37Chr 3, 38649666: 38649666
224GPD1LNM_015141.3(GPD1L): c.839C> T (p.Ala280Val)single nucleotide variantPathogenicrs72552291GRCh37Chr 3, 32200588: 32200588
225GPD1LNM_015141.3(GPD1L): c.247G> A (p.Glu83Lys)single nucleotide variantPathogenicrs72552292GRCh37Chr 3, 32180100: 32180100
226GPD1LNM_015141.3(GPD1L): c.817C> T (p.Arg273Cys)single nucleotide variantPathogenicrs72552294GRCh37Chr 3, 32200566: 32200566
227SCN1BNM_199037.3(SCN1B): c.536G> A (p.Trp179Ter)single nucleotide variantPathogenicrs267607028GRCh37Chr 19, 35524731: 35524731
228SCN5ANM_000335.4(SCN5A): c.3691C> T (p.Arg1231Trp)single nucleotide variantLikely pathogenic, Pathogenicrs199473207GRCh37Chr 3, 38608046: 38608046
229SCN5ANM_000335.4(SCN5A): c.611+3_611+4dupAAduplicationPathogenicrs397514252GRCh37Chr 3, 38662329: 38662330
230SCN5ANM_000335.4(SCN5A): c.4187delA (p.Lys1396Argfs)deletionPathogenicrs397514446GRCh37Chr 3, 38601693: 38601693
231SCN5ANM_000335.4(SCN5A): c.4531C> T (p.Arg1511Trp)single nucleotide variantPathogenicrs137854602GRCh37Chr 3, 38597155: 38597155
232SCN5ANM_000335.4(SCN5A): c.5767G> A (p.Ala1923Thr)single nucleotide variantPathogenicrs137854603GRCh37Chr 3, 38592093: 38592093
233SCN5ANM_000335.4(SCN5A): c.5382_5384dupTGA (p.Tyr1794_Glu1795insAsp)duplicationPathogenicrs397514449GRCh37Chr 3, 38592476: 38592478
234SCN5ANM_000335.4(SCN5A): c.1100G> A (p.Arg367His)single nucleotide variantPathogenicrs28937318GRCh37Chr 3, 38648200: 38648200
235SCN5ANM_000335.4(SCN5A): c.2204C> T (p.Ala735Val)single nucleotide variantPathogenicrs137854611GRCh37Chr 3, 38639278: 38639278
236SCN5ANM_000335.4(SCN5A): c.4219G> A (p.Gly1407Arg)single nucleotide variantPathogenicrs137854612GRCh37Chr 3, 38601661: 38601661
237SCN5ANM_000335.4(SCN5A): c.659C> T (p.Thr220Ile)single nucleotide variantPathogenicrs45620037GRCh37Chr 3, 38655278: 38655278
238SCN5ANM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His)single nucleotide variantPathogenicrs137854615GRCh37Chr 3, 38592480: 38592480
239SCN5ANM_000335.4(SCN5A): c.3781G> A (p.Gly1261Ser)single nucleotide variantPathogenicrs137854616GRCh37Chr 3, 38607956: 38607956
240SCN5ANM_000335.4(SCN5A): c.3820G> A (p.Asp1274Asn)single nucleotide variantPathogenicrs137854618GRCh37Chr 3, 38607917: 38607917
241SCN5ANM_000335.4(SCN5A): c.4259G> A (p.Trp1420Ter)single nucleotide variantPathogenicrs137854620GRCh37Chr 3, 38598759: 38598759
242SCN5ANM_000335.4(SCN5A): c.694G> A (p.Val232Ile)single nucleotide variantPathogenicrs45471994GRCh37Chr 3, 38655243: 38655243
243CACNB2NM_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 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1SCN5A, CACNB2, CACNA1C, SCN1B, SCN4B
2
Show member pathways
9.1CACNB2, KCNH2, KCNJ8, HCN4, KCND3
3
Show member pathways
9.1KCNE3, KCNJ8, KCND3, HCN4, KCNH2
49.0SCN3B, SCN2B, ANK3, SCN5A, SCN1B
5
Show member pathways
8.8SCN4B, SCN2B, SCN1B, SCN3B, SCN5A
68.7SCN3B, SCN5A, SCN4B, KCNJ8, KCNH2, GPD1L
7
Show member pathways
8.6SCN2B, SCN5A, SCN3B, ANK3, SCN1B, CACNB2
8
Show member pathways
8.4CACNA1C, CACNB2, SCN3B, SCN5A, SCN2B, SCN4B
9
Show member pathways
8.4SCN4B, CACNA1C, CACNB2, SCN3B, SCN5A, SCN2B
108.3CACNA1C, KCNE3, KCNE2, KCNJ8, KCND3, CACNB2
116.0KCNH2, SCN1B, CACNA1C, CACNB2, SCN3B, SCN5A

Compounds for genes affiliated with Brugada Syndrome

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

(show all 35)
idCompoundScoreTop Affiliating Genes
1nisoldipine28 43 1212.3CACNB2, CACNA1C
2nilvadipine43 1211.3CACNA1C, CACNB2
3isradipine43 28 1212.3CACNB2, CACNA1C
4disopyramide43 1211.3KCND3, SCN5A
5nimodipine43 28 1212.3CACNB2, CACNA1C
6flecainide49 43 28 1213.3SCN5A, KCNH2
7calcium channel blockers4910.2CACNA1C, KCNH2
8propafenone28 43 49 1213.2SCN5A, KCNH2
9mexiletine49 43 1212.2KCNH2, SCN5A
10ibutilide43 1211.2CACNA1C, KCNH2
11felodipine43 28 1212.2CACNB2, CACNA1C
12mibefradil43 28 1212.1CACNB2, CACNA1C
13cisapride43 28 1212.1SCN5A, KCNH2
14nitrendipine43 49 28 1213.1KCNH2, CACNB2, CACNA1C
15atenolol43 49 28 24 1214.0CACNA1C, KCNH2
16amlodipine43 49 24 1213.0CACNB2, CACNA1C
17diltiazem43 28 49 1212.9KCNH2, CACNA1C
18verapamil43 28 49 24 1213.8SCN5A, KCNH2, CACNB2, CACNA1C
19katp439.8KCNH2, KCNJ8
20nicardipine43 28 1211.8CACNA1C, CACNB2
21Dihydroxyacetone phosphate249.7GPD1, GPD1L
22jnj 303599.4KCND3, KCNE2, KCNH2, KCNE3
23e-4031 dihydrochloride599.4KCNH2, KCNE3, KCNE2, KCND3
24xe 991 dihydrochloride599.4KCNE3, KCNH2, KCND3, KCNE2
25ica 110381599.4KCNE3, KCNE2, KCND3, KCNH2
26shk-dap22599.4KCNH2, KCNE3, KCNE2, KCND3
27qx 314 chloride599.2SCN1B, SCN4B, SCN2B, SCN5A, SCN3B
28phrixotoxin 3599.2SCN3B, SCN1B, SCN5A, SCN2B, SCN4B
29tetrodotoxin citrate599.2SCN1B, SCN4B, SCN3B, SCN2B, SCN5A
30veratridine43 59 2811.2SCN5A, SCN1B, SCN4B, SCN3B, SCN2B
31zonisamide43 49 1211.2SCN3B, SCN2B, SCN5A, SCN4B, SCN1B
32tetrodotoxin43 59 2811.2SCN5A, SCN1B, SCN3B, SCN4B, SCN2B
33potassium43 24 1210.5KCNE3, KCNE2, KCNJ8, KCNH2, HCN4, SCN1B
34calcium43 49 24 1211.3TRPM4, CACNA1C, CACNB2, SCN5A, KCNH2, SCN1B
35sodium43 248.6SCN1B, KCNH2, KCNE2, HCN4, SCN4B, SCN2B

GO Terms for genes affiliated with Brugada Syndrome

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1voltage-gated calcium channel complexGO:000589110.1CACNA1C, CACNB2
2T-tubuleGO:00303159.9SCN5A, ANK3, SCN1B
3Z discGO:00300189.7SCN3B, CACNA1C, ANK3
4intrinsic component of plasma membraneGO:00312269.7SCN4B, HCN4
5node of RanvierGO:00332689.6ANK3, SCN1B
6glycerol-3-phosphate dehydrogenase complexGO:00093319.6GPD1L, GPD1
7voltage-gated sodium channel complexGO:00015189.1SCN3B, SCN5A, SCN2B, SCN4B, SCN1B
8sarcolemmaGO:00423839.1KCNJ8, SLMAP, CACNB2, ANK3, SCN5A, KCND3
9intercalated discGO:00147049.0ANK3, RANGRF, SCN5A, SCN4B, SCN1B
10cell surfaceGO:00099868.8ANK3, SCN5A, KCNE2, KCNH2
11voltage-gated potassium channel complexGO:00080768.7KCNH2, KCNE2, KCND3, KCNJ8, KCNE1L
12plasma membraneGO:00058866.9RANGRF, SCN3B, SCN5A, ANK3, GPD1L, CACNA1C

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

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1SA node cell to atrial cardiac muscle cell communicationGO:008607010.4SCN3B, SCN5A
2regulation of ventricular cardiac muscle cell membrane depolarizationGO:006037310.2GPD1L, SCN3B, SCN5A
3membrane depolarizationGO:005189910.2SCN3B, SCN5A, SCN1B
4positive regulation of protein localization to cell surfaceGO:0200001010.1RANGRF, GPD1L
5regulation of atrial cardiac muscle cell membrane repolarizationGO:006037210.1KCNE1L, SCN5A
6regulation of potassium ion transportGO:004326610.1ANK3, KCNE3
7membrane depolarization during action potentialGO:008601010.1SCN3B, SCN5A, KCNH2
8AV node cell to bundle of His cell communicationGO:008606710.1SCN5A, SCN4B
9response to pyrethroidGO:004668410.1SCN2B, SCN1B
10negative regulation of potassium ion transmembrane transportGO:0190138010.0KCNE1L, KCNH2
11regulation of sodium ion transmembrane transportGO:0190230510.0RANGRF, SCN5A
12membrane repolarization during cardiac muscle cell action potentialGO:00860139.9KCNE1L, KCNH2
13protein localization to plasma membraneGO:00726599.9ANK3, SCN3B
14membrane repolarizationGO:00860099.9KCND3, KCNE2
15atrial cardiac muscle cell action potentialGO:00860149.8SCN3B, KCNE1L
16glycerol-3-phosphate catabolic processGO:00461689.8GPD1, GPD1L
17positive regulation of potassium ion transmembrane transportGO:019013819.8KCNE1L, KCNH2
18regulation of heart rateGO:00020279.8GPD1L, RANGRF, HCN4, SCN5A
19membrane repolarization during action potentialGO:00860119.8KCNE2, KCNH2
20sodium ion transportGO:00068149.8SCN3B, SCN5A, SCN4B
21regulation of atrial cardiac muscle cell membrane depolarizationGO:00603719.7SCN3B, SCN5A, SCN2B, SCN1B
22regulation of membrane potentialGO:00423919.7KCNH2, RANGRF, HCN4
23potassium ion importGO:00101079.6KCNJ8, KCNE2
24axon guidanceGO:00074119.6SCN1B, SCN3B, ANK3, CACNB2, CACNA1C
25neuromuscular junction developmentGO:00075289.6CACNB2, ANK3
26regulation of potassium ion transmembrane transportGO:019013799.5KCNH2, KCNE2, KCNE1L
27regulation of membrane repolarizationGO:00603069.5KCNE2, KCNH2, KCNE1L
28phosphatidic acid biosynthetic processGO:00066549.4GPD1L, GPD1
29membrane depolarization during cardiac muscle cell action potentialGO:00860129.2SCN3B, SCN1B, SCN2B, SCN5A, SCN4B
30potassium ion transmembrane transportGO:00718059.2KCNH2, KCNE1L, HCN4, KCNE2
31potassium ion exportGO:00714359.2KCNE2, KCNH2, KCNE1L, KCND3
32positive regulation of sodium ion transportGO:00107659.2GPD1L, SCN1B, SCN4B, SCN5A, SCN3B, ANK3
33sodium ion transmembrane transportGO:00357259.0SCN3B, SCN5A, SCN2B, HCN4, SCN1B, SCN4B
34ventricular cardiac muscle cell action potentialGO:00860058.9KCNE1L, GPD1L, SCN5A, SCN3B, KCNH2, KCNE2
35regulation of sodium ion transmembrane transporter activityGO:020006498.8SCN1B, SCN4B, SCN2B, SCN3B, RANGRF, GPD1L
36cardiac muscle cell action potential involved in contractionGO:00860028.6SCN3B, SCN4B, SCN5A, SCN2B, KCNE2, SCN1B
37regulation of ventricular cardiac muscle cell membrane repolarizationGO:00603078.6KCNH2, KCNE2, KCNE1L, SCN1B, SCN4B, SCN5A
38synaptic transmissionGO:00072688.6HCN4, KCNH2, KCND3, KCNJ8, CACNB2, CACNA1C
39cardiac muscle contractionGO:00600488.5KCNH2, KCNE1L, SCN1B, SCN4B, SCN2B, SCN5A
40regulation of heart rate by cardiac conductionGO:00860917.9KCNE2, KCNE1L, SCN1B, SCN4B, SCN2B, SCN5A

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1high voltage-gated calcium channel activityGO:000833110.1CACNA1C, CACNB2
2voltage-gated calcium channel activityGO:00052459.8CACNB2, CACNA1C
3calmodulin bindingGO:00055169.7CACNA1C, SCN5A, TRPM4
4glycerol-3-phosphate dehydrogenase [NAD+] activityGO:00043679.6GPD1L, GPD1
5voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:019022829.6KCNE2, KCNH2
6voltage-gated potassium channel activityGO:00052499.5KCNE1L, KCNE3, KCNH2, HCN4
7NAD bindingGO:00512879.5GPD1L, GPD1
8inward rectifier potassium channel activityGO:00052429.4KCNH2, KCNE2, KCNJ8
9potassium channel regulator activityGO:00154599.4KCNE3, KCNE1L, KCNE2
10voltage-gated sodium channel activityGO:00052489.3SCN3B, SCN5A, SCN4B, SCN1B, HCN4
11delayed rectifier potassium channel activityGO:00052519.3KCNE2, KCND3, KCNH2
12voltage-gated sodium channel activity involved in cardiac muscle cell action potentialGO:00860069.1SCN5A, SCN3B, SCN4B, SCN2B, SCN1B
13sodium channel regulator activityGO:00170808.6SCN1B, SCN4B, SCN2B, SCN3B, RANGRF, GPD1L
14ion channel bindingGO:00443257.5KCNE1L, KCNE2, KCND3, GPD1L, SCN4B, SCN5A

Products for genes affiliated with Brugada Syndrome

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Sources for Brugada Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet