SUDS
MCID: BRG001
MIFTS: 59

Brugada Syndrome (SUDS) malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories
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Summaries for Brugada Syndrome

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NIH Rare Diseases:42 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 sick sinus syndrome. An important gene associated with Brugada Syndrome is SCN5A (sodium channel, voltage-gated, type V, alpha subunit), and among its related pathways are Sodium channels and transporters inward current and NCAM signaling for neurite out-growth. The compounds nisoldipine and isradipine have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and eye, and related mouse phenotype cardiovascular system.

Disease Ontology:8 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:65 The Brugada syndrome is a genetic disease that is characterised by abnormal electrocardiogram (ECG)... more...

Descriptions from OMIM:46 612838, 613123, 611876, 613120, 611875 611777, 601144, 613119 more

GeneReviews summary for brugada

Aliases & Classifications for Brugada Syndrome

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Brugada Syndrome, Aliases & Descriptions:

Name: Brugada Syndrome 8 19 42 20 22 21 10 44 62
Sudden Unexpected Nocturnal Death Syndrome 19 42 21 62
Sudden Unexplained Death Syndrome 21 62
 
Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome 42
Suds 21


Classifications:

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


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Disease Ontology8 DOID:0050451
MeSH34 D053840

Related Diseases for Brugada Syndrome

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Diseases in the Brugada Syndrome 1 family:

brugada syndrome Brugada Syndrome 3
Brugada Syndrome 4 Brugada Syndrome 5
Brugada Syndrome 6 Brugada Syndrome 7
Brugada Syndrome 2 Scn5a-Related Brugada Syndrome
Brugada Syndrome 8

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

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1brugada syndrome 131.2SCN5A
2sick sinus syndrome30.6SCN5A, HCN4
3long qt syndrome30.6CACNA1C, SCN5A, KCNE3
4sudden infant death syndrome30.2SCN5A, GPD1L
5syncope10.6
6right bundle branch block10.6
7brugada syndrome 310.5
8brugada syndrome 410.5
9brugada syndrome 710.5
10brugada syndrome 210.5
11brugada syndrome 510.4
12brugada syndrome 610.4
13brugada syndrome 810.4
14wolff-parkinson-white syndrome10.4
15hypokalemia10.4
16sick sinus syndrome 210.3HCN4
17arrhythmogenic right ventricular cardiomyopathy10.3
18short qt syndrome10.3
19ischemia10.3
20catecholaminergic polymorphic ventricular tachycardia10.3
21autonomic dysfunction10.3
22cardiac conduction defect10.3
23sleep disorder10.2
24left ventricular noncompaction10.2
25scn5a-related brugada syndrome10.2
26cholangiocarcinoma10.0
27chronic myeloid leukemia10.0
28leukemia10.0
29pemphigus vulgaris10.0
30dyspepsia10.0
31diabetic ketoacidosis10.0
32pemphigus10.0
33myotonic dystrophy type 110.0
34hypercalcemia10.0
35shigellosis10.0
36neuronitis10.0
37cerebritis10.0
38autonomic neuropathy10.0
39cellulitis10.0
40influenza10.0
41myeloid leukemia10.0
42neuropathy10.0
43pericarditis10.0
44pneumonia10.0
45spinocerebellar ataxia10.0
46myotonic dystrophy10.0
47long qt syndrome 310.0
48postural orthostatic tachycardia syndrome10.0
49aneurysm10.0
50ataxia10.0

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



Diseases related to brugada syndrome

Symptoms for Brugada Syndrome

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Clinical features from OMIM:

612838,613123,611876,613120,611875,611777,601144,613119

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:

32
Heart, Testes, Eye, Myeloid

Animal Models for Brugada Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Brugada Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.9CACNA1C, CACNB2, SCN3B, SCN5A, HCN4

Publications for Brugada Syndrome

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Articles related to Brugada Syndrome:

(show top 50)    (show all 610)
idTitleAuthorsYear
1
Usefulness of patient's history and non-invasive electrocardiographic parameters in prediction of ajmaline test results in patients with suspected Brugada syndrome. (25395941)
2014
2
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. (24136861)
2014
3
Clinical Characteristics, Management and Prognosis of Elderly Patients with Brugada Syndrome. (24400668)
2014
4
Clinic and genetic polymorphism of Brugada syndrome in Russian patients, caused by mutation in SCN5A gene]. (23503384)
2013
5
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
6
Brugada burden in Brugada syndrome: the way to go in risk stratification? (23583498)
2013
7
Clinical and electrocardiographic predictors of positive response to the intravenous sodium channel blockers in patients suspected of the Brugada syndrome. (21917337)
2013
8
Ventricular fibrillation with a 2:1 conduction block over the right ventricle in a Brugada syndrome patient. (24065342)
2013
9
Very prolonged episode of self-terminating ventricular fibrillation in a patient with Brugada syndrome. (24267814)
2013
10
Brugada syndrome in a family with a high mortality rate: a case report. (23506330)
2013
11
Drug-induced brugada syndrome by noncardiac agents. (23992531)
2013
12
Haemochromatosis, sinus node dysfunction and Brugada syndrome--a mAcnage a trois of findings in one and the same patient: coincidence or causality? (22641986)
2012
13
Brugada syndrome 2012. (22789973)
2012
14
Use of implantable loop recorders in patients with Brugada syndrome and suspected risk of ventricular arrhythmia. (21979995)
2012
15
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
16
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
17
Coexisting early repolarization pattern and Brugada syndrome: recognition of potentially overlapping entities. (22178622)
2012
18
An atypical case of Brugada syndrome. (22008499)
2011
19
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
20
Anesthetic management of patients with Brugada syndrome: a case series and literature review. (21698509)
2011
21
Role of the R1135H KCNH2 mutation in Brugada syndrome. (19174314)
2010
22
Local conduction block of the atria by premature stimulus in a patient with Brugada syndrome. (19698955)
2010
23
Brugada syndrome: Controversies in Risk stratification and Management. (20930958)
2010
24
Ventricular flutter in a child with Brugada syndrome. (20371143)
2010
25
Mode of onset of ventricular fibrillation in patients with early repolarization pattern vs. Brugada syndrome. (19880418)
2010
26
Brugada syndrome revealed by vertigo caused by cerebellar infarction. (20298423)
2010
27
The SCN5A gene in Brugada syndrome: mutations, variants, missense and nonsense. What's a clinician to do? (20129285)
2010
28
Structural myocardial abnormalities in asymptomatic family members with Brugada syndrome and SCN5A gene mutation. (19411664)
2009
29
Predictors of atrial tachyarrhythmias in subjects with type 1 ECG pattern of Brugada syndrome. (19335860)
2009
30
A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease. (19829766)
2009
31
Wolff-Parkinson-White syndrome associated with Brugada syndrome. (19513016)
2009
32
Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org). (19716089)
2009
33
Repolarization measurement in Brugada syndrome. (18702975)
2008
34
Risk assessment in Brugada-syndrome: the way back to the surface ECG. (18284490)
2008
35
A post-QRS potential in Brugada syndrome: its relation to electrocardiographic pattern and possible genesis. (18436126)
2008
36
Differences in 12-lead electrocardiogram between symptomatic and asymptomatic Brugada syndrome patients. (18631270)
2008
37
A paradoxical effect of lidocaine for the N406S mutation of SCN5A associated with Brugada syndrome. (17445919)
2007
38
The management of Brugada syndrome patients. (18651443)
2007
39
Developmental aspects of long QT syndrome type 3 and Brugada syndrome on the basis of a single SCN5A mutation in childhood. (16022964)
2005
40
Mechanisms of disease: current understanding and future challenges in Brugada syndrome. (16119703)
2005
41
Cryptic 5' splice site activation in SCN5A associated with Brugada syndrome. (15808832)
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 220)
id Gene Name 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
3CACNA1CNM_000719.6(CACNA1C): c.3343G> A (p.Glu1115Lys)single nucleotide variantPathogenicrs199473391GRCh37Chr 12, 2716283: 2716283
4NM_000719.6(CACNA1C): c.6040G> A (p.Val2014Ile)single nucleotide variantPathogenicrs199473660GRCh37Chr 12, 2797868: 2797868
5CACNA1CNM_000719.6(CACNA1C): c.6388G> A (p.Asp2130Asn)single nucleotide variantPathogenicrs199473392GRCh37Chr 12, 2800336: 2800336
6SCN5ANM_000335.4(SCN5A): c.1007C> T (p.Pro336Leu)single nucleotide variantPathogenicrs199473093GRCh37Chr 3, 38648293: 38648293
7SCN5ANM_000335.4(SCN5A): c.103G> A (p.Gly35Ser)single nucleotide variantPathogenicrs199473552GRCh37Chr 3, 38674696: 38674696
8SCN5ANM_000335.4(SCN5A): c.1052G> A (p.Gly351Asp)single nucleotide variantPathogenicrs199473095GRCh37Chr 3, 38648248: 38648248
9SCN5ANM_000335.4(SCN5A): c.1052G> T (p.Gly351Val)single nucleotide variantPathogenicrs199473095GRCh37Chr 3, 38648248: 38648248
10SCN5ANM_000335.4(SCN5A): c.1058C> T (p.Thr353Ile)single nucleotide variantPathogenicrs199473096GRCh37Chr 3, 38648242: 38648242
11SCN5ANM_000335.4(SCN5A): c.1066G> A (p.Asp356Asn)single nucleotide variantPathogenicrs199473565GRCh37Chr 3, 38648234: 38648234
12SCN5ANM_000335.4(SCN5A): c.1100G> T (p.Arg367Leu)single nucleotide variantPathogenicrs28937318GRCh37Chr 3, 38648200: 38648200
13SCN5ANM_000335.4(SCN5A): c.1106T> A (p.Met369Lys)single nucleotide variantPathogenicrs199473098GRCh37Chr 3, 38648194: 38648194
14SCN5ANM_000335.4(SCN5A): c.1120T> G (p.Trp374Gly)single nucleotide variantPathogenicrs199473566GRCh37Chr 3, 38648180: 38648180
15SCN5ANM_000335.4(SCN5A): c.1127G> A (p.Arg376His)single nucleotide variantPathogenicrs199473101GRCh37Chr 3, 38648173: 38648173
16SCN5ANM_000335.4(SCN5A): c.1156G> A (p.Gly386Arg)single nucleotide variantPathogenicrs199473102GRCh37Chr 3, 38647624: 38647624
17SCN5ANM_000335.4(SCN5A): c.1157G> A (p.Gly386Glu)single nucleotide variantPathogenicrs199473567GRCh37Chr 3, 38647623: 38647623
18SCN5ANM_000335.4(SCN5A): c.1186G> C (p.Val396Leu)single nucleotide variantPathogenicrs199473104GRCh37Chr 3, 38647594: 38647594
19SCN5ANM_000335.4(SCN5A): c.1187T> C (p.Val396Ala)single nucleotide variantPathogenicrs199473103GRCh37Chr 3, 38647593: 38647593
20SCN5ANM_000335.4(SCN5A): c.1217A> G (p.Asn406Ser)single nucleotide variantPathogenicrs199473568GRCh37Chr 3, 38647563: 38647563
21SCN5ANM_000335.4(SCN5A): c.1315G> A (p.Glu439Lys)single nucleotide variantPathogenicrs199473570GRCh37Chr 3, 38647465: 38647465
22SCN5ANM_000335.4(SCN5A): c.1502A> G (p.Asp501Gly)single nucleotide variantPathogenicrs199473117GRCh37Chr 3, 38646236: 38646236
23SCN5ANM_000335.4(SCN5A): c.1577G> A (p.Arg526His)single nucleotide variantPathogenicrs45627438GRCh37Chr 3, 38645516: 38645516
24SCN5ANM_000335.4(SCN5A): c.1595T> G (p.Phe532Cys)single nucleotide variantPathogenicrs199473573GRCh37Chr 3, 38645498: 38645498
25SCN5ANM_000335.4(SCN5A): c.1629T> A (p.Phe543Leu)single nucleotide variantPathogenicrs199473122GRCh37Chr 3, 38645464: 38645464
26SCN5ANM_000335.4(SCN5A): c.1651G> A (p.Ala551Thr)single nucleotide variantPathogenicrs199473574GRCh37Chr 3, 38645442: 38645442
27SCN5ANM_000335.4(SCN5A): c.1654G> A (p.Gly552Arg)single nucleotide variantPathogenicrs3918389GRCh37Chr 3, 38645439: 38645439
28SCN5ANM_000335.4(SCN5A): c.1700T> A (p.Leu567Gln)single nucleotide variantPathogenicrs199473124GRCh37Chr 3, 38645393: 38645393
29SCN5ANM_000335.4(SCN5A): c.1756G> A (p.Ala586Thr)single nucleotide variantPathogenicrs199473129GRCh37Chr 3, 38645337: 38645337
30SCN5ANM_000335.4(SCN5A): c.1855C> T (p.Leu619Phe)single nucleotide variantPathogenicrs199473133GRCh37Chr 3, 38645238: 38645238
31SCN5ANM_000335.4(SCN5A): c.1858C> T (p.Arg620Cys)single nucleotide variantPathogenicrs199473577GRCh37Chr 3, 38645235: 38645235
32SCN5ANM_000335.4(SCN5A): c.1895C> T (p.Thr632Met)single nucleotide variantPathogenicrs199473134GRCh37Chr 3, 38640537: 38640537
33SCN5ANM_000335.4(SCN5A): c.1918C> G (p.Pro640Ala)single nucleotide variantPathogenicrs199473137GRCh37Chr 3, 38640514: 38640514
34SCN5ANM_000335.4(SCN5A): c.1981C> T (p.Arg661Trp)single nucleotide variantPathogenicrs199473139GRCh37Chr 3, 38640451: 38640451
35SCN5ANM_000335.4(SCN5A): c.2042A> C (p.His681Pro)single nucleotide variantPathogenicrs199473143GRCh37Chr 3, 38639440: 38639440
36SCN5ANM_000335.4(SCN5A): c.2047T> G (p.Cys683Gly)single nucleotide variantPathogenicrs199473144GRCh37Chr 3, 38639435: 38639435
37SCN5ANM_000335.4(SCN5A): c.210T> G (p.Asn70Lys)single nucleotide variantPathogenicrs199473050GRCh37Chr 3, 38674589: 38674589
38SCN5ANM_000335.4(SCN5A): c.2150C> T (p.Pro717Leu)single nucleotide variantPathogenicrs199473149GRCh37Chr 3, 38639332: 38639332
39SCN5ANM_000335.4(SCN5A): c.2203G> A (p.Ala735Thr)single nucleotide variantPathogenicrs199473151GRCh37Chr 3, 38639279: 38639279
40SCN5ANM_000335.4(SCN5A): c.2204C> A (p.Ala735Glu)single nucleotide variantPathogenicrs137854611GRCh37Chr 3, 38639278: 38639278
41SCN5ANM_000335.4(SCN5A): c.2236G> A (p.Glu746Lys)single nucleotide variantPathogenicrs199473582GRCh37Chr 3, 38639246: 38639246
42SCN5ANM_000335.4(SCN5A): c.2254G> A (p.Gly752Arg)single nucleotide variantPathogenicrs199473153GRCh37Chr 3, 38639228: 38639228
43SCN5ANM_000335.4(SCN5A): c.2273G> A (p.Gly758Glu)single nucleotide variantPathogenicrs199473154GRCh37Chr 3, 38629054: 38629054
44SCN5ANM_000335.4(SCN5A): c.2291T> G (p.Met764Arg)single nucleotide variantPathogenicrs199473156GRCh37Chr 3, 38629036: 38629036
45SCN5ANM_000335.4(SCN5A): c.2317C> T (p.Pro773Ser)single nucleotide variantPathogenicrs199473158GRCh37Chr 3, 38629010: 38629010
46SCN5ANM_000335.4(SCN5A): c.2365G> A (p.Val789Ile)single nucleotide variantPathogenicrs199473159GRCh37Chr 3, 38628962: 38628962
47SCN5ANM_000335.4(SCN5A): c.2441G> A (p.Arg814Gln)single nucleotide variantPathogenicrs199473584GRCh37Chr 3, 38627528: 38627528
48SCN5ANM_000335.4(SCN5A): c.2504C> T (p.Ser835Leu)single nucleotide variantPathogenicrs199473163GRCh37Chr 3, 38627465: 38627465
49SCN5ANM_000335.4(SCN5A): c.250G> A (p.Asp84Asn)single nucleotide variantPathogenicrs199473051GRCh37Chr 3, 38674549: 38674549
50SCN5ANM_000335.4(SCN5A): c.2516T> C (p.Leu839Pro)single nucleotide variantPathogenicrs199473164GRCh37Chr 3, 38627453: 38627453
51SCN5ANM_000335.4(SCN5A): c.2551T> C (p.Phe851Leu)single nucleotide variantPathogenicrs199473586GRCh37Chr 3, 38627418: 38627418
52SCN5ANM_000335.4(SCN5A): c.2553C> A (p.Phe851Leu)single nucleotide variantPathogenicrs199473340GRCh37Chr 3, 38627416: 38627416
53SCN5ANM_000335.4(SCN5A): c.2599G> C (p.Glu867Gln)single nucleotide variantPathogenicrs199473167GRCh37Chr 3, 38627370: 38627370
54SCN5ANM_000335.4(SCN5A): c.2632C> T (p.Arg878Cys)single nucleotide variantPathogenicrs199473168GRCh37Chr 3, 38627337: 38627337
55SCN5ANM_000335.4(SCN5A): c.2633G> A (p.Arg878His)single nucleotide variantPathogenicrs199473587GRCh37Chr 3, 38627336: 38627336
56SCN5ANM_000335.4(SCN5A): c.2657A> C (p.His886Pro)single nucleotide variantPathogenicrs199473169GRCh37Chr 3, 38627312: 38627312
57SCN5ANM_000335.4(SCN5A): c.2674T> A (p.Phe892Ile)single nucleotide variantPathogenicrs199473170GRCh37Chr 3, 38627295: 38627295
58SCN5ANM_000335.4(SCN5A): c.2677C> T (p.Arg893Cys)single nucleotide variantPathogenicrs199473171GRCh37Chr 3, 38627292: 38627292
59SCN5ANM_000335.4(SCN5A): c.2678G> A (p.Arg893His)single nucleotide variantPathogenicrs199473172GRCh37Chr 3, 38627291: 38627291
60SCN5ANM_000335.4(SCN5A): c.2686T> A (p.Cys896Ser)single nucleotide variantPathogenicrs199473173GRCh37Chr 3, 38627283: 38627283
61SCN5ANM_000335.4(SCN5A): c.2701G> A (p.Glu901Lys)single nucleotide variantPathogenicrs199473174GRCh37Chr 3, 38627268: 38627268
62SCN5ANM_000335.4(SCN5A): c.2729C> T (p.Ser910Leu)single nucleotide variantPathogenicrs199473175GRCh37Chr 3, 38627240: 38627240
63SCN5ANM_000335.4(SCN5A): c.2743T> C (p.Cys915Arg)single nucleotide variantPathogenicrs199473588GRCh37Chr 3, 38627226: 38627226
64SCN5ANM_000335.4(SCN5A): c.2750T> G (p.Leu917Arg)single nucleotide variantPathogenicrs199473176GRCh37Chr 3, 38627219: 38627219
65SCN5ANM_000335.4(SCN5A): c.2780A> G (p.Asn927Ser)single nucleotide variantPathogenicrs199473589GRCh37Chr 3, 38627189: 38627189
66SCN5ANM_000335.4(SCN5A): c.2783T> C (p.Leu928Pro)single nucleotide variantPathogenicrs199473178GRCh37Chr 3, 38627186: 38627186
67SCN5ANM_000335.4(SCN5A): c.278T> C (p.Phe93Ser)single nucleotide variantPathogenicrs199473052GRCh37Chr 3, 38671916: 38671916
68SCN5ANM_000335.4(SCN5A): c.2804T> C (p.Leu935Pro)single nucleotide variantPathogenicrs199473179GRCh37Chr 3, 38622846: 38622846
69SCN5ANM_000335.4(SCN5A): c.281T> G (p.Ile94Ser)single nucleotide variantPathogenicrs199473053GRCh37Chr 3, 38671913: 38671913
70SCN5ANM_000335.4(SCN5A): c.283G> A (p.Val95Ile)single nucleotide variantPathogenicrs199473054GRCh37Chr 3, 38671911: 38671911
71SCN5ANM_000335.4(SCN5A): c.2893C> T (p.Arg965Cys)single nucleotide variantPathogenicrs199473180GRCh37Chr 3, 38622757: 38622757
72SCN5ANM_000335.4(SCN5A): c.2894G> A (p.Arg965His)single nucleotide variantPathogenicrs199473181GRCh37Chr 3, 38622756: 38622756
73SCN5ANM_000335.4(SCN5A): c.2989G> A (p.Ala997Thr)single nucleotide variantPathogenicrs137854609GRCh37Chr 3, 38622661: 38622661
74SCN5ANM_000335.4(SCN5A): c.3068G> A (p.Arg1023His)single nucleotide variantPathogenicrs199473592GRCh37Chr 3, 38622582: 38622582
75SCN5ANM_000335.4(SCN5A): c.310C> T (p.Arg104Trp)single nucleotide variantPathogenicrs199473055GRCh37Chr 3, 38671884: 38671884
76SCN5ANM_000335.4(SCN5A): c.311G> A (p.Arg104Gln)single nucleotide variantPathogenicrs199473554GRCh37Chr 3, 38671883: 38671883
77SCN5ANM_000335.4(SCN5A): c.3164A> G (p.Asp1055Gly)single nucleotide variantPathogenicrs199473593GRCh37Chr 3, 38622486: 38622486
78SCN5ANM_000335.4(SCN5A): c.3233C> A (p.Ser1078Tyr)single nucleotide variantPathogenicrs199473188GRCh37Chr 3, 38620979: 38620979
79SCN5ANM_000335.4(SCN5A): c.327C> A (p.Asn109Lys)single nucleotide variantPathogenicrs199473056GRCh37Chr 3, 38671867: 38671867
80SCN5ANM_000335.4(SCN5A): c.3335C> T (p.Ala1112Val)single nucleotide variantPathogenicrs199473194GRCh37Chr 3, 38620877: 38620877
81SCN5ANM_000335.4(SCN5A): c.3416G> C (p.Ser1139Thr)single nucleotide variantPathogenicrs199473199GRCh37Chr 3, 38618244: 38618244
82SCN5ANM_000335.4(SCN5A): c.361C> T (p.Arg121Trp)single nucleotide variantPathogenicrs199473556GRCh37Chr 3, 38671833: 38671833
83SCN5ANM_000335.4(SCN5A): c.362G> A (p.Arg121Gln)single nucleotide variantPathogenicrs199473058GRCh37Chr 3, 38671832: 38671832
84SCN5ANM_000335.4(SCN5A): c.3653G> A (p.Ser1218Asn)single nucleotide variantPathogenicrs199473597GRCh37Chr 3, 38616798: 38616798
85SCN5ANM_000335.4(SCN5A): c.3679T> C (p.Tyr1227His)single nucleotide variantPathogenicrs199473205GRCh37Chr 3, 38608058: 38608058
86SCN5ANM_000335.4(SCN5A): c.3692G> A (p.Arg1231Gln)single nucleotide variantPathogenicrs199473206GRCh37Chr 3, 38608045: 38608045
87SCN5ANM_000335.4(SCN5A): c.3705G> T (p.Lys1235Asn)single nucleotide variantPathogenicrs199473208GRCh37Chr 3, 38608032: 38608032
88SCN5ANM_000335.4(SCN5A): c.3713T> C (p.Leu1238Pro)single nucleotide variantPathogenicrs199473210GRCh37Chr 3, 38608024: 38608024
89SCN5ANM_000335.4(SCN5A): c.3715G> C (p.Glu1239Gln)single nucleotide variantPathogenicrs199473211GRCh37Chr 3, 38608022: 38608022
90SCN5ANM_000335.4(SCN5A): c.3724G> A (p.Asp1242Asn)single nucleotide variantPathogenicrs199473599GRCh37Chr 3, 38608013: 38608013
91SCN5ANM_000335.4(SCN5A): c.3743T> A (p.Val1248Asp)single nucleotide variantPathogenicrs199473213GRCh37Chr 3, 38607994: 38607994
92SCN5ANM_000335.4(SCN5A): c.3755A> G (p.Glu1252Gly)single nucleotide variantPathogenicrs199473214GRCh37Chr 3, 38607982: 38607982
93SCN5ANM_000335.4(SCN5A): c.376A> G (p.Lys126Glu)single nucleotide variantPathogenicrs185492581GRCh37Chr 3, 38671818: 38671818
94SCN5ANM_000335.4(SCN5A): c.3810G> C (p.Trp1270Cys)single nucleotide variantPathogenicrs199473601GRCh37Chr 3, 38607927: 38607927
95SCN5ANM_000335.4(SCN5A): c.3860C> G (p.Ala1287Gly)single nucleotide variantPathogenicrs199473217GRCh37Chr 3, 38604006: 38604006
96SCN5ANM_000335.4(SCN5A): c.3929T> C (p.Leu1310Pro)single nucleotide variantPathogenicrs199473219GRCh37Chr 3, 38603937: 38603937
97SCN5ANM_000335.4(SCN5A): c.3953G> T (p.Gly1318Val)single nucleotide variantPathogenicrs199473220GRCh37Chr 3, 38603913: 38603913
98SCN5ANM_000335.4(SCN5A): c.3965T> G (p.Val1322Gly)single nucleotide variantPathogenicrs199473221GRCh37Chr 3, 38601915: 38601915
99SCN5ANM_000335.4(SCN5A): c.3992C> T (p.Pro1331Leu)single nucleotide variantPathogenicrs199473225GRCh37Chr 3, 38601888: 38601888
100SCN5ANM_000335.4(SCN5A): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs199473550GRCh37Chr 3, 38674796: 38674796
101SCN5ANM_000335.4(SCN5A): c.4015G> A (p.Val1339Ile)single nucleotide variantPathogenicrs199473605GRCh37Chr 3, 38601865: 38601865
102SCN5ANM_000335.4(SCN5A): c.4027T> C (p.Phe1343Leu)single nucleotide variantPathogenicrs199473228GRCh37Chr 3, 38601853: 38601853
103SCN5ANM_000335.4(SCN5A): c.4028T> C (p.Phe1343Ser)single nucleotide variantPathogenicrs199473229GRCh37Chr 3, 38601852: 38601852
104SCN5ANM_000335.4(SCN5A): c.4032G> T (p.Trp1344Cys)single nucleotide variantPathogenicrs199473606GRCh37Chr 3, 38601848: 38601848
105SCN5ANM_000335.4(SCN5A): c.4033C> A (p.Leu1345Ile)single nucleotide variantPathogenicrs199473230GRCh37Chr 3, 38601847: 38601847
106SCN5ANM_000335.4(SCN5A): c.4034T> C (p.Leu1345Pro)single nucleotide variantPathogenicrs199473231GRCh37Chr 3, 38601846: 38601846
107SCN5ANM_000335.4(SCN5A): c.4046T> C (p.Ile1349Thr)single nucleotide variantPathogenicrs199473607GRCh37Chr 3, 38601834: 38601834
108SCN5ANM_000335.4(SCN5A): c.4049T> G (p.Met1350Arg)single nucleotide variantPathogenicrs199473232GRCh37Chr 3, 38601831: 38601831
109SCN5ANM_000335.4(SCN5A): c.4054G> A (p.Val1352Met)single nucleotide variantPathogenicrs199473233GRCh37Chr 3, 38601826: 38601826
110SCN5ANM_000335.4(SCN5A): c.4069G> T (p.Gly1357Trp)single nucleotide variantPathogenicrs199473234GRCh37Chr 3, 38601811: 38601811
111SCN5ANM_000335.4(SCN5A): c.4074G> T (p.Lys1358Asn)single nucleotide variantPathogenicrs199473235GRCh37Chr 3, 38601806: 38601806
112SCN5ANM_000335.4(SCN5A): c.4076T> G (p.Phe1359Cys)single nucleotide variantPathogenicrs199473236GRCh37Chr 3, 38601804: 38601804
113SCN5ANM_000335.4(SCN5A): c.407T> C (p.Leu136Pro)single nucleotide variantPathogenicrs199473557GRCh37Chr 3, 38663966: 38663966
114SCN5ANM_000335.4(SCN5A): c.4085G> A (p.Cys1362Tyr)single nucleotide variantPathogenicrs199473237GRCh37Chr 3, 38601795: 38601795
115SCN5ANM_000335.4(SCN5A): c.4137C> G (p.Asn1379Lys)single nucleotide variantPathogenicrs199473238GRCh37Chr 3, 38601743: 38601743
116SCN5ANM_000335.4(SCN5A): c.4142G> T (p.Ser1381Ile)single nucleotide variantPathogenicrs199473608GRCh37Chr 3, 38601738: 38601738
117SCN5ANM_000335.4(SCN5A): c.4210G> A (p.Val1404Met)single nucleotide variantPathogenicrs199473239GRCh37Chr 3, 38601670: 38601670
118SCN5ANM_000335.4(SCN5A): c.4210G> C (p.Val1404Leu)single nucleotide variantPathogenicrs199473239GRCh37Chr 3, 38601670: 38601670
119SCN5ANM_000335.4(SCN5A): c.4213G> A (p.Gly1405Arg)single nucleotide variantPathogenicrs199473240GRCh37Chr 3, 38601667: 38601667
120SCN5ANM_000335.4(SCN5A): c.4214G> A (p.Gly1405Glu)single nucleotide variantPathogenicrs199473609GRCh37Chr 3, 38601666: 38601666
121SCN5ANM_000335.4(SCN5A): c.4223A> G (p.Tyr1408Cys)single nucleotide variantPathogenicrs199473610GRCh37Chr 3, 38601657: 38601657
122SCN5ANM_000335.4(SCN5A): c.4231C> T (p.Leu1411Phe)single nucleotide variantPathogenicrs199473241GRCh37Chr 3, 38601649: 38601649
123SCN5ANM_000335.4(SCN5A): c.4252A> G (p.Lys1418Glu)single nucleotide variantPathogenicrs199473242GRCh37Chr 3, 38598766: 38598766
124SCN5ANM_000335.4(SCN5A): c.4255G> C (p.Gly1419Arg)single nucleotide variantPathogenicrs199473611GRCh37Chr 3, 38598763: 38598763
125SCN5ANM_000335.4(SCN5A): c.4276G> T (p.Ala1426Ser)single nucleotide variantPathogenicrs199473244GRCh37Chr 3, 38598742: 38598742
126SCN5ANM_000335.4(SCN5A): c.4280C> T (p.Ala1427Val)single nucleotide variantPathogenicrs199473612GRCh37Chr 3, 38598738: 38598738
127SCN5ANM_000335.4(SCN5A): c.4291A> G (p.Arg1431Gly)single nucleotide variantPathogenicrs199473245GRCh37Chr 3, 38598727: 38598727
128SCN5ANM_000335.4(SCN5A): c.4295G> T (p.Gly1432Val)single nucleotide variantPathogenicrs199473247GRCh37Chr 3, 38598723: 38598723
129SCN5ANM_000335.4(SCN5A): c.4310C> T (p.Pro1437Leu)single nucleotide variantPathogenicrs199473248GRCh37Chr 3, 38598056: 38598056
130SCN5ANM_000335.4(SCN5A): c.4318G> C (p.Glu1440Gln)single nucleotide variantPathogenicrs199473249GRCh37Chr 3, 38598048: 38598048
131SCN5ANM_000335.4(SCN5A): c.4339A> C (p.Ile1447Leu)single nucleotide variantPathogenicrs199473250GRCh37Chr 3, 38598027: 38598027
132SCN5ANM_000335.4(SCN5A): c.4340T> C (p.Ile1447Thr)single nucleotide variantPathogenicrs199473251GRCh37Chr 3, 38598026: 38598026
133SCN5ANM_000335.4(SCN5A): c.4343A> G (p.Tyr1448Cys)single nucleotide variantPathogenicrs199473613GRCh37Chr 3, 38598023: 38598023
134SCN5ANM_000335.4(SCN5A): c.4349T> A (p.Val1450Asp)single nucleotide variantPathogenicrs199473252GRCh37Chr 3, 38598017: 38598017
135SCN5ANM_000335.4(SCN5A): c.436G> A (p.Val146Met)single nucleotide variantPathogenicrs199473061GRCh37Chr 3, 38663937: 38663937
136SCN5ANM_000335.4(SCN5A): c.4384A> T (p.Asn1462Tyr)single nucleotide variantPathogenicrs199473614GRCh37Chr 3, 38597982: 38597982
137SCN5ANM_000335.4(SCN5A): c.4399G> T (p.Val1467Phe)single nucleotide variantPathogenicrs199473254GRCh37Chr 3, 38597967: 38597967
138SCN5ANM_000335.4(SCN5A): c.4477T> A (p.Tyr1493Asn)single nucleotide variantPathogenicrs199473261GRCh37Chr 3, 38597209: 38597209
139SCN5ANM_000335.4(SCN5A): c.4498C> G (p.Leu1500Val)single nucleotide variantPathogenicrs199473266GRCh37Chr 3, 38597188: 38597188
140SCN5ANM_000335.4(SCN5A): c.4501G> A (p.Gly1501Ser)single nucleotide variantPathogenicrs199473267GRCh37Chr 3, 38597185: 38597185
141SCN5ANM_000335.4(SCN5A): c.4559T> A (p.Ile1520Lys)single nucleotide variantPathogenicrs199473617GRCh37Chr 3, 38596021: 38596021
142SCN5ANM_000335.4(SCN5A): c.4570G> A (p.Val1524Met)single nucleotide variantPathogenicrs199473269GRCh37Chr 3, 38596010: 38596010
143SCN5ANM_000335.4(SCN5A): c.4577A> G (p.Lys1526Arg)single nucleotide variantPathogenicrs199473270GRCh37Chr 3, 38596003: 38596003
144SCN5ANM_000335.4(SCN5A): c.4639G> A (p.Glu1547Lys)single nucleotide variantPathogenicrs199473271GRCh37Chr 3, 38595941: 38595941
145SCN5ANM_000335.4(SCN5A): c.4654A> C (p.Ser1552Arg)single nucleotide variantPathogenicrs199473272GRCh37Chr 3, 38595926: 38595926
146SCN5ANM_000335.4(SCN5A): c.4702G> C (p.Ala1568Pro)single nucleotide variantPathogenicrs199473273GRCh37Chr 3, 38595878: 38595878
147SCN5ANM_000335.4(SCN5A): c.4709T> G (p.Phe1570Cys)single nucleotide variantPathogenicrs199473274GRCh37Chr 3, 38595871: 38595871
148SCN5ANM_000335.4(SCN5A): c.4717G> A (p.Glu1573Lys)single nucleotide variantPathogenicrs199473620GRCh37Chr 3, 38595863: 38595863
149SCN5ANM_000335.4(SCN5A): c.4742T> C (p.Leu1581Pro)single nucleotide variantPathogenicrs199473275GRCh37Chr 3, 38595838: 38595838
150SCN5ANM_000335.4(SCN5A): c.4744C> T (p.Arg1582Cys)single nucleotide variantPathogenicrs45514691GRCh37Chr 3, 38595836: 38595836
151SCN5ANM_000335.4(SCN5A): c.4745G> A (p.Arg1582His)single nucleotide variantPathogenicrs199473621GRCh37Chr 3, 38595835: 38595835
152SCN5ANM_000335.4(SCN5A): c.4807G> A (p.Val1603Met)single nucleotide variantPathogenicrs199473280GRCh37Chr 3, 38595773: 38595773
153SCN5ANM_000335.4(SCN5A): c.481G> A (p.Glu161Lys)single nucleotide variantPathogenicrs199473062GRCh37Chr 3, 38663892: 38663892
154SCN5ANM_000335.4(SCN5A): c.481G> C (p.Glu161Gln)single nucleotide variantPathogenicrs199473062GRCh37Chr 3, 38663892: 38663892
155SCN5ANM_000335.4(SCN5A): c.4835A> T (p.Gln1612Leu)single nucleotide variantPathogenicrs199473281GRCh37Chr 3, 38593025: 38593025
156SCN5ANM_000335.4(SCN5A): c.4856C> T (p.Thr1619Met)single nucleotide variantPathogenicrs199473282GRCh37Chr 3, 38593004: 38593004
157SCN5ANM_000335.4(SCN5A): c.4882C> G (p.Arg1628Gly)single nucleotide variantPathogenicrs199473284GRCh37Chr 3, 38592978: 38592978
158SCN5ANM_000335.4(SCN5A): c.4883G> A (p.Arg1628Gln)single nucleotide variantPathogenicrs199473623GRCh37Chr 3, 38592977: 38592977
159SCN5ANM_000335.4(SCN5A): c.4922G> A (p.Gly1641Glu)single nucleotide variantPathogenicrs199473624GRCh37Chr 3, 38592938: 38592938
160SCN5ANM_000335.4(SCN5A): c.4943C> T (p.Ala1648Val)single nucleotide variantPathogenicrs199473289GRCh37Chr 3, 38592917: 38592917
161SCN5ANM_000335.4(SCN5A): c.4975A> G (p.Ile1659Val)single nucleotide variantPathogenicrs199473625GRCh37Chr 3, 38592885: 38592885
162SCN5ANM_000335.4(SCN5A): c.4978G> C (p.Gly1660Arg)single nucleotide variantPathogenicrs199473292GRCh37Chr 3, 38592882: 38592882
163SCN5ANM_000335.4(SCN5A): c.4G> A (p.Ala2Thr)single nucleotide variantPathogenicrs199473042GRCh37Chr 3, 38674795: 38674795
164SCN5ANM_000335.4(SCN5A): c.5012C> A (p.Ser1671Tyr)single nucleotide variantPathogenicrs199473626GRCh37Chr 3, 38592848: 38592848
165SCN5ANM_000335.4(SCN5A): c.5035G> A (p.Ala1679Thr)single nucleotide variantPathogenicrs199473294GRCh37Chr 3, 38592825: 38592825
166SCN5ANM_000335.4(SCN5A): c.5089G> A (p.Ala1697Thr)single nucleotide variantPathogenicrs199473295GRCh37Chr 3, 38592771: 38592771
167SCN5ANM_000335.4(SCN5A): c.5115G> C (p.Gln1705His)single nucleotide variantPathogenicrs199473296GRCh37Chr 3, 38592745: 38592745
168SCN5ANM_000335.4(SCN5A): c.5123C> G (p.Thr1708Arg)single nucleotide variantPathogenicrs199473297GRCh37Chr 3, 38592737: 38592737
169SCN5ANM_000335.4(SCN5A): c.5123C> T (p.Thr1708Met)single nucleotide variantPathogenicrs199473297GRCh37Chr 3, 38592737: 38592737
170SCN5ANM_000335.4(SCN5A): c.5131G> A (p.Gly1711Ser)single nucleotide variantPathogenicrs199473298GRCh37Chr 3, 38592729: 38592729
171SCN5ANM_000335.4(SCN5A): c.5138A> G (p.Asp1713Gly)single nucleotide variantPathogenicrs199473628GRCh37Chr 3, 38592722: 38592722
172SCN5ANM_000335.4(SCN5A): c.5161A> G (p.Asn1721Asp)single nucleotide variantPathogenicrs199473299GRCh37Chr 3, 38592699: 38592699
173SCN5ANM_000335.4(SCN5A): c.5179T> C (p.Cys1727Arg)single nucleotide variantPathogenicrs199473302GRCh37Chr 3, 38592681: 38592681
174SCN5ANM_000335.4(SCN5A): c.5181C> G (p.Cys1727Trp)single nucleotide variantPathogenicrs193922726GRCh37Chr 3, 38592679: 38592679
175SCN5ANM_000335.4(SCN5A): c.5215G> A (p.Gly1739Arg)single nucleotide variantPathogenicrs199473304GRCh37Chr 3, 38592645: 38592645
176SCN5ANM_000335.4(SCN5A): c.5225G> A (p.Gly1742Glu)single nucleotide variantPathogenicrs199473629GRCh37Chr 3, 38592635: 38592635
177SCN5ANM_000335.4(SCN5A): c.525G> C (p.Lys175Asn)single nucleotide variantPathogenicrs199473063GRCh37Chr 3, 38662420: 38662420
178SCN5ANM_000335.4(SCN5A): c.5287G> T (p.Val1763Phe)single nucleotide variantPathogenicrs199473309GRCh37Chr 3, 38592573: 38592573
179SCN5ANM_000335.4(SCN5A): c.5318A> G (p.Asn1773Ser)single nucleotide variantPathogenicrs199473313GRCh37Chr 3, 38592542: 38592542
180SCN5ANM_000335.4(SCN5A): c.5333C> T (p.Thr1778Met)single nucleotide variantPathogenicrs199473634GRCh37Chr 3, 38592527: 38592527
181SCN5ANM_000335.4(SCN5A): c.533C> G (p.Ala178Gly)single nucleotide variantPathogenicrs199473065GRCh37Chr 3, 38662412: 38662412
182SCN5ANM_000335.4(SCN5A): c.544T> C (p.Cys182Arg)single nucleotide variantPathogenicrs199473066GRCh37Chr 3, 38662401: 38662401
183SCN5ANM_000335.4(SCN5A): c.5546G> C (p.Cys1849Ser)single nucleotide variantPathogenicrs199473322GRCh37Chr 3, 38592314: 38592314
184SCN5ANM_000335.4(SCN5A): c.554C> T (p.Ala185Val)single nucleotide variantPathogenicrs199473067GRCh37Chr 3, 38662391: 38662391
185SCN5ANM_000335.4(SCN5A): c.5578G> A (p.Val1860Ile)single nucleotide variantPathogenicrs199473636GRCh37Chr 3, 38592282: 38592282
186SCN5ANM_000335.4(SCN5A): c.560C> T (p.Thr187Ile)single nucleotide variantPathogenicrs199473558GRCh37Chr 3, 38662385: 38662385
187SCN5ANM_000335.4(SCN5A): c.5613G> C (p.Lys1871Asn)single nucleotide variantPathogenicrs199473323GRCh37Chr 3, 38592247: 38592247
188SCN5ANM_000335.4(SCN5A): c.5800G> A (p.Gly1934Ser)single nucleotide variantPathogenicrs199473637GRCh37Chr 3, 38592060: 38592060
189SCN5ANM_000335.4(SCN5A): c.5809G> A (p.Glu1937Lys)single nucleotide variantPathogenicrs199473329GRCh37Chr 3, 38592051: 38592051
190SCN5ANM_000335.4(SCN5A): c.5900T> G (p.Ile1967Ser)single nucleotide variantPathogenicrs199473639GRCh37Chr 3, 38591960: 38591960
191SCN5ANM_000335.4(SCN5A): c.611C> T (p.Ala204Val)single nucleotide variantPathogenicrs199473559GRCh37Chr 3, 38662334: 38662334
192SCN5ANM_000335.4(SCN5A): c.635T> A (p.Leu212Gln)single nucleotide variantPathogenicrs199473070GRCh37Chr 3, 38655302: 38655302
193SCN5ANM_000335.4(SCN5A): c.667G> C (p.Val223Leu)single nucleotide variantPathogenicrs199473560GRCh37Chr 3, 38655270: 38655270
194SCN5ANM_000335.4(SCN5A): c.677C> T (p.Ala226Val)single nucleotide variantPathogenicrs199473561GRCh37Chr 3, 38655260: 38655260
195SCN5ANM_000335.4(SCN5A): c.688A> G (p.Ile230Val)single nucleotide variantPathogenicrs199473074GRCh37Chr 3, 38655249: 38655249
196SCN5ANM_000335.4(SCN5A): c.694G> A (p.Val232Ile)single nucleotide variantPathogenicrs45471994GRCh37Chr 3, 38655243: 38655243
197SCN5ANM_000335.4(SCN5A): c.718G> A (p.Val240Met)single nucleotide variantPathogenicrs199473076GRCh37Chr 3, 38651441: 38651441
198SCN5ANM_000335.4(SCN5A): c.808C> A (p.Gln270Lys)single nucleotide variantPathogenicrs199473079GRCh37Chr 3, 38651351: 38651351
199SCN5ANM_000335.4(SCN5A): c.827T> A (p.Leu276Gln)single nucleotide variantPathogenicrs199473081GRCh37Chr 3, 38651332: 38651332
200SCN5ANM_000335.4(SCN5A): c.832C> G (p.His278Asp)single nucleotide variantPathogenicrs199473562GRCh37Chr 3, 38651327: 38651327
201SCN5ANM_000335.4(SCN5A): c.844C> T (p.Arg282Cys)single nucleotide variantPathogenicrs199473082GRCh37Chr 3, 38651315: 38651315
202SCN5ANM_000335.4(SCN5A): c.845G> A (p.Arg282His)single nucleotide variantPathogenicrs199473083GRCh37Chr 3, 38651314: 38651314
203SCN5ANM_000335.4(SCN5A): c.874G> A (p.Gly292Ser)single nucleotide variantPathogenicrs199473085GRCh37Chr 3, 38651285: 38651285
204SCN5ANM_000335.4(SCN5A): c.880G> A (p.Val294Met)single nucleotide variantPathogenicrs199473086GRCh37Chr 3, 38651279: 38651279
205SCN5ANM_000335.4(SCN5A): c.898G> A (p.Val300Ile)single nucleotide variantPathogenicrs199473088GRCh37Chr 3, 38651261: 38651261
206SCN5ANM_000335.4(SCN5A): c.944T> C (p.Leu315Pro)single nucleotide variantPathogenicrs199473564GRCh37Chr 3, 38649696: 38649696
207SCN5ANM_000335.4(SCN5A): c.951G> C (p.Lys317Asn)single nucleotide variantPathogenicrs199473089GRCh37Chr 3, 38649689: 38649689
208SCN5ANM_000335.4(SCN5A): c.955G> A (p.Gly319Ser)single nucleotide variantPathogenicrs199473090GRCh37Chr 3, 38649685: 38649685
209SCN5ANM_000335.4(SCN5A): c.959C> A (p.Thr320Asn)single nucleotide variantPathogenicrs199473091GRCh37Chr 3, 38649681: 38649681
210SCN5ANM_000335.4(SCN5A): c.974T> G (p.Leu325Arg)single nucleotide variantPathogenicrs199473092GRCh37Chr 3, 38649666: 38649666
211SCN5ANM_000335.4(SCN5A): c.4856C> T (p.Thr1619Met)single nucleotide variantPathogenicrs199473282GRCh37Chr 3, 38593004: 38593004
212SCN5ANM_000335.4(SCN5A): c.5767G> A (p.Ala1923Thr)single nucleotide variantPathogenicrs137854603GRCh37Chr 3, 38592093: 38592093
213SCN5ANM_000335.4(SCN5A): c.1100G> A (p.Arg367His)single nucleotide variantPathogenicrs28937318GRCh37Chr 3, 38648200: 38648200
214SCN5ANM_000335.4(SCN5A): c.2204C> T (p.Ala735Val)single nucleotide variantPathogenicrs137854611GRCh37Chr 3, 38639278: 38639278
215SCN5ANM_000335.4(SCN5A): c.4219G> A (p.Gly1407Arg)single nucleotide variantPathogenicrs137854612GRCh37Chr 3, 38601661: 38601661
216SCN5ANM_000335.4(SCN5A): c.659C> T (p.Thr220Ile)single nucleotide variantPathogenicrs45620037GRCh37Chr 3, 38655278: 38655278
217SCN5ANM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His)single nucleotide variantPathogenicrs137854615GRCh37Chr 3, 38592480: 38592480
218SCN5ANM_000335.4(SCN5A): c.3781G> A (p.Gly1261Ser)single nucleotide variantPathogenicrs137854616GRCh37Chr 3, 38607956: 38607956
219SCN5ANM_000335.4(SCN5A): c.3820G> A (p.Asp1274Asn)single nucleotide variantPathogenicrs137854618GRCh37Chr 3, 38607917: 38607917
220SCN5ANM_000335.4(SCN5A): c.694G> A (p.Val232Ile)single nucleotide variantPathogenicrs45471994GRCh37Chr 3, 38655243: 38655243

Expression for genes affiliated with Brugada Syndrome

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Expression patterns in normal tissues for genes affiliated with Brugada Syndrome

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/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6HCN4, SCN5A
2
Show member pathways
9.6CACNB2, CACNA1C
3
Show member pathways
Development Ligand independent activation of ESR1 and ESR260
9.6CACNB2, CACNA1C
4
Show member pathways
9.6CACNB2, CACNA1C
59.6CACNA1C, CACNB2
69.6CACNA1C, CACNB2
7
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.6CACNA1C, CACNB2
8
Show member pathways
9.6CACNA1C, CACNB2
99.6CACNA1C, CACNB2
109.6CACNA1C, CACNB2
11
Show member pathways
9.6CACNA1C, CACNB2
129.6CACNA1C, HCN4
13
Show member pathways
9.3KCNE3, HCN4
14
Show member pathways
9.1CACNA1C, CACNB2, HCN4
159.0CACNA1C, CACNB2, KCNE3
168.9SCN3B, SCN5A, SCN1B
17
Show member pathways
8.9SCN1B, SCN5A, SCN3B
188.9SCN3B, SCN5A, GPD1L
198.8SCN1B, SCN5A, CACNB2, CACNA1C
20
Show member pathways
8.0SCN1B, SCN5A, SCN3B, CACNB2, CACNA1C
21
Show member pathways
8.0SCN1B, SCN5A, SCN3B, CACNB2, CACNA1C
22
Show member pathways
8.0SCN1B, SCN5A, SCN3B, CACNB2, CACNA1C
236.9CACNA1C, CACNB2, SCN3B, SCN5A, SCN1B, HCN4

Compounds for genes affiliated with Brugada Syndrome

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Compounds related to Brugada Syndrome according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1nisoldipine28 44 1111.8CACNB2, CACNA1C
2isradipine44 28 1111.8CACNA1C, CACNB2
3nilvadipine44 1110.8CACNA1C, CACNB2
4nimodipine44 28 1111.7CACNB2, CACNA1C
5nitrendipine44 50 28 1112.7CACNA1C, CACNB2
6felodipine44 28 1111.6CACNA1C, CACNB2
7mibefradil44 28 1111.6CACNB2, CACNA1C
8nifedipine44 28 50 1112.6CACNA1C, CACNB2
9amlodipine44 50 24 1112.5CACNA1C, CACNB2
10verapamil44 28 50 24 1113.5CACNA1C, CACNB2, SCN5A
11nicardipine44 28 1111.3CACNA1C, CACNB2
12phrixotoxin 3619.2SCN3B, SCN1B, SCN5A
13qx 314 chloride619.2SCN1B, SCN5A, SCN3B
14tetrodotoxin citrate619.2SCN1B, SCN5A, SCN3B
15veratridine44 61 2811.2SCN3B, SCN5A, SCN1B
16zonisamide44 50 1111.2SCN1B, SCN5A, SCN3B
17tetrodotoxin44 61 2811.2SCN3B, SCN5A, SCN1B
18potassium44 24 1110.8KCNE3, HCN4, SCN1B, SCN5A
19sodium44 249.6HCN4, SCN1B, SCN5A, SCN3B

GO Terms for genes affiliated with Brugada Syndrome

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Cellular components related to Brugada Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:0303159.8SCN1B, SCN5A
2intercalated discGO:0147049.7SCN1B, SCN5A
3voltage-gated calcium channel complexGO:0058919.7CACNA1C, CACNB2
4sarcolemmaGO:0423839.5SCN5A, CACNB2
5voltage-gated sodium channel complexGO:0015189.0SCN3B, SCN5A, SCN1B
6Z discGO:0300189.0CACNA1C, SCN3B
7plasma membraneGO:0058868.0CACNA1C, SCN3B, SCN5A, GPD1L, HCN4

Biological processes related to Brugada Syndrome according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1regulation of ventricular cardiac muscle cell membrane repolarizationGO:0603079.4SCN5A, SCN1B
2SA node cell to atrial cardiac muscle cell communicationGO:0860709.4SCN3B, SCN5A
3regulation of heart rateGO:0020279.3SCN5A, GPD1L, HCN4
4membrane depolarization during action potentialGO:0860109.3SCN3B, SCN5A
5sodium ion transportGO:0068149.3SCN3B, SCN5A
6membrane depolarization during cardiac muscle cell action potentialGO:0860129.2SCN1B, SCN5A, SCN3B
7regulation of atrial cardiac muscle cell membrane depolarizationGO:0603719.2SCN1B, SCN5A, SCN3B
8regulation of ventricular cardiac muscle cell membrane depolarizationGO:0603739.2GPD1L, SCN5A, SCN3B
9cardiac muscle cell action potential involved in contractionGO:0860029.2SCN1B, SCN5A, SCN3B
10regulation of heart rate by cardiac conductionGO:0860919.1SCN1B, SCN5A, SCN3B
11membrane depolarizationGO:0518999.1SCN1B, SCN5A, SCN3B
12ventricular cardiac muscle cell action potentialGO:0860059.1SCN3B, SCN5A, GPD1L
13regulation of sodium ion transmembrane transporter activityGO:20006499.1GPD1L, SCN1B, SCN3B
14cardiac muscle contractionGO:0600489.0SCN1B, SCN5A, SCN3B
15positive regulation of sodium ion transportGO:0107658.8SCN3B, SCN5A, SCN1B, GPD1L
16sodium ion transmembrane transportGO:0357258.7HCN4, SCN1B, SCN5A, SCN3B
17synaptic transmissionGO:0072688.5HCN4, SCN1B, CACNB2, CACNA1C
18axon guidanceGO:0074118.4SCN1B, SCN3B, CACNB2, CACNA1C

Molecular functions related to Brugada Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1high voltage-gated calcium channel activityGO:0083319.5CACNB2, CACNA1C
2voltage-gated potassium channel activityGO:0052499.3HCN4, KCNE3
3voltage-gated calcium channel activityGO:0052459.3CACNA1C, CACNB2
4voltage-gated sodium channel activity involved in cardiac muscle cell action potentialGO:0860069.0SCN3B, SCN5A, SCN1B
5sodium channel regulator activityGO:0170808.9GPD1L, SCN1B, SCN3B
6ion channel bindingGO:0443258.9SCN3B, SCN5A, GPD1L
7voltage-gated sodium channel activityGO:0052488.5SCN3B, SCN5A, SCN1B, HCN4

Products for genes affiliated with Brugada Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Brugada Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet