SUDS
MCID: BRG001
MIFTS: 55

Brugada Syndrome (SUDS) malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

Summaries for Brugada Syndrome

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Sources:
9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 theĀ 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: Brugada Syndrome, also known as sudden unexpected nocturnal death syndrome, is related to long qt syndrome and brugada syndrome 1. An important gene associated with Brugada Syndrome is SCN1B (sodium channel, voltage-gated, type I, beta subunit), and among its related pathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Adrenergic signaling in cardiomyocytes. The compounds verapamil and qx 314 chloride have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and eye.

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:22 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:66 The Brugada syndrome is a genetic disease that is characterised by abnormal electrocardiogram (ECG)... more...

Description from OMIM:48 613119, 611876, 611875, 611777, 613120 613123, 612838, 601144 more

GeneReviews summary for brugada

Aliases & Classifications for Brugada Syndrome

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Sources:
9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 48OMIM, 36MeSH
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Classifications:

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


Aliases & Descriptions:

brugada syndrome 9 20 44 21 23 22 11 46 63
sudden unexpected nocturnal death syndrome 20 44 22 63
right bundle branch block, st segment elevation, and sudden death syndrome 44
sudden unexplained death syndrome 22
suds 22


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Disease Ontology9 DOID:0050451
MeSH36 D053840

Related Diseases for Brugada Syndrome

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Sources:
18GeneCards, 19GeneDecks
See all sources

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 53)
idRelated DiseaseScoreTop Affiliating Genes
1long qt syndrome30.8KCNE3, SCN5A
2brugada syndrome 130.8SCN5A
3right bundle branch block10.6
4syncope10.5
5brugada syndrome 310.5
6brugada syndrome 410.5
7brugada syndrome 710.5
8brugada syndrome 210.5
9brugada syndrome 510.4
10brugada syndrome 610.4
11brugada syndrome 810.4
12wolff-parkinson-white syndrome10.4
13hypokalemia10.4
14sick sinus syndrome10.4
15short qt syndrome10.3
16catecholaminergic polymorphic ventricular tachycardia10.3
17autonomic dysfunction10.3
18cardiac conduction defect10.3
19ischemia10.2
20sleep disorder10.2
21left ventricular noncompaction10.2
22scn5a-related brugada syndrome10.2
23diabetic ketoacidosis10.0
24pemphigus10.0
25neuronitis10.0
26dyspepsia10.0
27chronic myeloid leukemia10.0
28hypercalcemia10.0
29cerebritis10.0
30arrhythmogenic right ventricular dysplasia10.0
31shigellosis10.0
32autonomic neuropathy10.0
33cellulitis10.0
34cholangiocarcinoma10.0
35influenza10.0
36leukemia10.0
37myeloid leukemia10.0
38myotonic dystrophy10.0
39neuropathy10.0
40pericarditis10.0
41pneumonia10.0
42spinocerebellar ataxia10.0
43myotonic dystrophy type 110.0
44long qt syndrome 310.0
45pemphigus vulgaris10.0
46postural orthostatic tachycardia syndrome10.0
47sudden cardiac death multi-gene panels10.0
48aneurysm10.0
49ataxia10.0
50cerebral aneurysms10.0

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



Diseases related to brugada syndrome

Symptoms for Brugada Syndrome

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Sources:
48OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Brugada Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Brugada Syndrome

Drug clinical trials:

Search ClinicalTrials for Brugada Syndrome

Search NIH Clinical Center for Brugada Syndrome

Search CenterWatch for Brugada Syndrome

Genetic Tests for Brugada Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Brugada Syndrome:

id Genetic test Affiliating Genes
1 Brugada Syndrome Multi-Gene Panels21
2 Brugada Syndrome21 23 SCN5A

Anatomical Context for Brugada Syndrome

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34MalaCards
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MalaCards organs/tissues related to Brugada Syndrome:

34
Heart, Testes, Eye, Brain, Myeloid

Animal Models for Brugada Syndrome or affiliated genes

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Publications for Brugada Syndrome

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Sources:
53PubMed
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Articles related to Brugada Syndrome:

(show top 50)    (show all 591)
idTitleAuthorsYear
1
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. (24136861)
2014
2
Clinical Characteristics, Management and Prognosis of Elderly Patients with Brugada Syndrome. (24400668)
2014
3
Clinic and genetic polymorphism of Brugada syndrome in Russian patients, caused by mutation in SCN5A gene]. (23503384)
2013
4
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
5
Brugada burden in Brugada syndrome: the way to go in risk stratification? (23583498)
2013
6
Clinical and electrocardiographic predictors of positive response to the intravenous sodium channel blockers in patients suspected of the Brugada syndrome. (21917337)
2013
7
Ventricular fibrillation with a 2:1 conduction block over the right ventricle in a Brugada syndrome patient. (24065342)
2013
8
Very prolonged episode of self-terminating ventricular fibrillation in a patient with Brugada syndrome. (24267814)
2013
9
Brugada syndrome in a family with a high mortality rate: a case report. (23506330)
2013
10
Drug-induced brugada syndrome by noncardiac agents. (23992531)
2013
11
Haemochromatosis, sinus node dysfunction and Brugada syndrome--a mAcnage a trois of findings in one and the same patient: coincidence or causality? (22641986)
2012
12
Brugada syndrome 2012. (22789973)
2012
13
Use of implantable loop recorders in patients with Brugada syndrome and suspected risk of ventricular arrhythmia. (21979995)
2012
14
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
15
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
16
Coexisting early repolarization pattern and Brugada syndrome: recognition of potentially overlapping entities. (22178622)
2012
17
An atypical case of Brugada syndrome. (22008499)
2011
18
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
19
Anesthetic management of patients with Brugada syndrome: a case series and literature review. (21698509)
2011
20
Role of the R1135H KCNH2 mutation in Brugada syndrome. (19174314)
2010
21
Local conduction block of the atria by premature stimulus in a patient with Brugada syndrome. (19698955)
2010
22
Brugada syndrome: Controversies in Risk stratification and Management. (20930958)
2010
23
Ventricular flutter in a child with Brugada syndrome. (20371143)
2010
24
Mode of onset of ventricular fibrillation in patients with early repolarization pattern vs. Brugada syndrome. (19880418)
2010
25
Brugada syndrome revealed by vertigo caused by cerebellar infarction. (20298423)
2010
26
The SCN5A gene in Brugada syndrome: mutations, variants, missense and nonsense. What's a clinician to do? (20129285)
2010
27
Abnormal atrial repolarization and depolarization contribute to the inducibility of atrial fibrillation in Brugada syndrome. (20558904)
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Brugada Syndrome:

1 (show all 222)
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
3SCN5ANM_000335.4(SCN5A): c.53G> A (p.Arg18Gln)single nucleotide variantPathogenic, Uncertain significancers41311087GRCh37Chr 3, 38674746: 38674746
4SCN5ANM_000335.4(SCN5A): c.5491C> G (p.Gln1831Glu)single nucleotide variantPathogenic, Uncertain significancers199473320GRCh37Chr 3, 38592369: 38592369
5CACNA1CNM_000719.6(CACNA1C): c.3343G> A (p.Glu1115Lys)single nucleotide variantPathogenicrs199473391GRCh37Chr 12, 2716283: 2716283
6NM_000719.6(CACNA1C): c.6040G> A (p.Val2014Ile)single nucleotide variantPathogenicrs199473660GRCh37Chr 12, 2797868: 2797868
7CACNA1CNM_000719.6(CACNA1C): c.6388G> A (p.Asp2130Asn)single nucleotide variantPathogenicrs199473392GRCh37Chr 12, 2800336: 2800336
8SCN5ANM_000335.4(SCN5A): c.1007C> T (p.Pro336Leu)single nucleotide variantPathogenicrs199473093GRCh37Chr 3, 38648293: 38648293
9SCN5ANM_000335.4(SCN5A): c.103G> A (p.Gly35Ser)single nucleotide variantPathogenicrs199473552GRCh37Chr 3, 38674696: 38674696
10SCN5ANM_000335.4(SCN5A): c.1052G> A (p.Gly351Asp)single nucleotide variantPathogenicrs199473095GRCh37Chr 3, 38648248: 38648248
11SCN5ANM_000335.4(SCN5A): c.1052G> T (p.Gly351Val)single nucleotide variantPathogenicrs199473095GRCh37Chr 3, 38648248: 38648248
12SCN5ANM_000335.4(SCN5A): c.1058C> T (p.Thr353Ile)single nucleotide variantPathogenicrs199473096GRCh37Chr 3, 38648242: 38648242
13SCN5ANM_000335.4(SCN5A): c.1066G> A (p.Asp356Asn)single nucleotide variantPathogenicrs199473565GRCh37Chr 3, 38648234: 38648234
14SCN5ANM_000335.4(SCN5A): c.1100G> T (p.Arg367Leu)single nucleotide variantPathogenicrs28937318GRCh37Chr 3, 38648200: 38648200
15SCN5ANM_000335.4(SCN5A): c.1106T> A (p.Met369Lys)single nucleotide variantPathogenicrs199473098GRCh37Chr 3, 38648194: 38648194
16SCN5ANM_000335.4(SCN5A): c.1120T> G (p.Trp374Gly)single nucleotide variantPathogenicrs199473566GRCh37Chr 3, 38648180: 38648180
17SCN5ANM_000335.4(SCN5A): c.1127G> A (p.Arg376His)single nucleotide variantPathogenicrs199473101GRCh37Chr 3, 38648173: 38648173
18SCN5ANM_000335.4(SCN5A): c.1156G> A (p.Gly386Arg)single nucleotide variantPathogenicrs199473102GRCh37Chr 3, 38647624: 38647624
19SCN5ANM_000335.4(SCN5A): c.1157G> A (p.Gly386Glu)single nucleotide variantPathogenicrs199473567GRCh37Chr 3, 38647623: 38647623
20SCN5ANM_000335.4(SCN5A): c.1186G> C (p.Val396Leu)single nucleotide variantPathogenicrs199473104GRCh37Chr 3, 38647594: 38647594
21SCN5ANM_000335.4(SCN5A): c.1187T> C (p.Val396Ala)single nucleotide variantPathogenicrs199473103GRCh37Chr 3, 38647593: 38647593
22SCN5ANM_000335.4(SCN5A): c.1217A> G (p.Asn406Ser)single nucleotide variantPathogenicrs199473568GRCh37Chr 3, 38647563: 38647563
23SCN5ANM_000335.4(SCN5A): c.1315G> A (p.Glu439Lys)single nucleotide variantPathogenicrs199473570GRCh37Chr 3, 38647465: 38647465
24SCN5ANM_000335.4(SCN5A): c.1502A> G (p.Asp501Gly)single nucleotide variantPathogenicrs199473117GRCh37Chr 3, 38646236: 38646236
25SCN5ANM_000335.4(SCN5A): c.1577G> A (p.Arg526His)single nucleotide variantPathogenicrs45627438GRCh37Chr 3, 38645516: 38645516
26SCN5ANM_000335.4(SCN5A): c.1595T> G (p.Phe532Cys)single nucleotide variantPathogenicrs199473573GRCh37Chr 3, 38645498: 38645498
27SCN5ANM_000335.4(SCN5A): c.1629T> A (p.Phe543Leu)single nucleotide variantPathogenicrs199473122GRCh37Chr 3, 38645464: 38645464
28SCN5ANM_000335.4(SCN5A): c.1651G> A (p.Ala551Thr)single nucleotide variantPathogenicrs199473574GRCh37Chr 3, 38645442: 38645442
29SCN5ANM_000335.4(SCN5A): c.1654G> A (p.Gly552Arg)single nucleotide variantPathogenicrs3918389GRCh37Chr 3, 38645439: 38645439
30SCN5ANM_000335.4(SCN5A): c.1700T> A (p.Leu567Gln)single nucleotide variantPathogenicrs199473124GRCh37Chr 3, 38645393: 38645393
31SCN5ANM_000335.4(SCN5A): c.1756G> A (p.Ala586Thr)single nucleotide variantPathogenicrs199473129GRCh37Chr 3, 38645337: 38645337
32SCN5ANM_000335.4(SCN5A): c.1855C> T (p.Leu619Phe)single nucleotide variantPathogenicrs199473133GRCh37Chr 3, 38645238: 38645238
33SCN5ANM_000335.4(SCN5A): c.1858C> T (p.Arg620Cys)single nucleotide variantPathogenicrs199473577GRCh37Chr 3, 38645235: 38645235
34SCN5ANM_000335.4(SCN5A): c.1895C> T (p.Thr632Met)single nucleotide variantPathogenicrs199473134GRCh37Chr 3, 38640537: 38640537
35SCN5ANM_000335.4(SCN5A): c.1918C> G (p.Pro640Ala)single nucleotide variantPathogenicrs199473137GRCh37Chr 3, 38640514: 38640514
36SCN5ANM_000335.4(SCN5A): c.1981C> T (p.Arg661Trp)single nucleotide variantPathogenicrs199473139GRCh37Chr 3, 38640451: 38640451
37SCN5ANM_000335.4(SCN5A): c.2042A> C (p.His681Pro)single nucleotide variantPathogenicrs199473143GRCh37Chr 3, 38639440: 38639440
38SCN5ANM_000335.4(SCN5A): c.2047T> G (p.Cys683Gly)single nucleotide variantPathogenicrs199473144GRCh37Chr 3, 38639435: 38639435
39SCN5ANM_000335.4(SCN5A): c.210T> G (p.Asn70Lys)single nucleotide variantPathogenicrs199473050GRCh37Chr 3, 38674589: 38674589
40SCN5ANM_000335.4(SCN5A): c.2150C> T (p.Pro717Leu)single nucleotide variantPathogenicrs199473149GRCh37Chr 3, 38639332: 38639332
41SCN5ANM_000335.4(SCN5A): c.2203G> A (p.Ala735Thr)single nucleotide variantPathogenicrs199473151GRCh37Chr 3, 38639279: 38639279
42SCN5ANM_000335.4(SCN5A): c.2204C> A (p.Ala735Glu)single nucleotide variantPathogenicrs137854611GRCh37Chr 3, 38639278: 38639278
43SCN5ANM_000335.4(SCN5A): c.2236G> A (p.Glu746Lys)single nucleotide variantPathogenicrs199473582GRCh37Chr 3, 38639246: 38639246
44SCN5ANM_000335.4(SCN5A): c.2254G> A (p.Gly752Arg)single nucleotide variantPathogenicrs199473153GRCh37Chr 3, 38639228: 38639228
45SCN5ANM_000335.4(SCN5A): c.2273G> A (p.Gly758Glu)single nucleotide variantPathogenicrs199473154GRCh37Chr 3, 38629054: 38629054
46SCN5ANM_000335.4(SCN5A): c.2291T> G (p.Met764Arg)single nucleotide variantPathogenicrs199473156GRCh37Chr 3, 38629036: 38629036
47SCN5ANM_000335.4(SCN5A): c.2317C> T (p.Pro773Ser)single nucleotide variantPathogenicrs199473158GRCh37Chr 3, 38629010: 38629010
48SCN5ANM_000335.4(SCN5A): c.2365G> A (p.Val789Ile)single nucleotide variantPathogenicrs199473159GRCh37Chr 3, 38628962: 38628962
49SCN5ANM_000335.4(SCN5A): c.2441G> A (p.Arg814Gln)single nucleotide variantPathogenicrs199473584GRCh37Chr 3, 38627528: 38627528
50SCN5ANM_000335.4(SCN5A): c.2504C> T (p.Ser835Leu)single nucleotide variantPathogenicrs199473163GRCh37Chr 3, 38627465: 38627465
51SCN5ANM_000335.4(SCN5A): c.250G> A (p.Asp84Asn)single nucleotide variantPathogenicrs199473051GRCh37Chr 3, 38674549: 38674549
52SCN5ANM_000335.4(SCN5A): c.2516T> C (p.Leu839Pro)single nucleotide variantPathogenicrs199473164GRCh37Chr 3, 38627453: 38627453
53SCN5ANM_000335.4(SCN5A): c.2551T> C (p.Phe851Leu)single nucleotide variantPathogenicrs199473586GRCh37Chr 3, 38627418: 38627418
54SCN5ANM_000335.4(SCN5A): c.2553C> A (p.Phe851Leu)single nucleotide variantPathogenicrs199473340GRCh37Chr 3, 38627416: 38627416
55SCN5ANM_000335.4(SCN5A): c.2599G> C (p.Glu867Gln)single nucleotide variantPathogenicrs199473167GRCh37Chr 3, 38627370: 38627370
56SCN5ANM_000335.4(SCN5A): c.2632C> T (p.Arg878Cys)single nucleotide variantPathogenicrs199473168GRCh37Chr 3, 38627337: 38627337
57SCN5ANM_000335.4(SCN5A): c.2633G> A (p.Arg878His)single nucleotide variantPathogenicrs199473587GRCh37Chr 3, 38627336: 38627336
58SCN5ANM_000335.4(SCN5A): c.2657A> C (p.His886Pro)single nucleotide variantPathogenicrs199473169GRCh37Chr 3, 38627312: 38627312
59SCN5ANM_000335.4(SCN5A): c.2674T> A (p.Phe892Ile)single nucleotide variantPathogenicrs199473170GRCh37Chr 3, 38627295: 38627295
60SCN5ANM_000335.4(SCN5A): c.2677C> T (p.Arg893Cys)single nucleotide variantPathogenicrs199473171GRCh37Chr 3, 38627292: 38627292
61SCN5ANM_000335.4(SCN5A): c.2678G> A (p.Arg893His)single nucleotide variantPathogenicrs199473172GRCh37Chr 3, 38627291: 38627291
62SCN5ANM_000335.4(SCN5A): c.2686T> A (p.Cys896Ser)single nucleotide variantPathogenicrs199473173GRCh37Chr 3, 38627283: 38627283
63SCN5ANM_000335.4(SCN5A): c.2701G> A (p.Glu901Lys)single nucleotide variantPathogenicrs199473174GRCh37Chr 3, 38627268: 38627268
64SCN5ANM_000335.4(SCN5A): c.2729C> T (p.Ser910Leu)single nucleotide variantPathogenicrs199473175GRCh37Chr 3, 38627240: 38627240
65SCN5ANM_000335.4(SCN5A): c.2743T> C (p.Cys915Arg)single nucleotide variantPathogenicrs199473588GRCh37Chr 3, 38627226: 38627226
66SCN5ANM_000335.4(SCN5A): c.2750T> G (p.Leu917Arg)single nucleotide variantPathogenicrs199473176GRCh37Chr 3, 38627219: 38627219
67SCN5ANM_000335.4(SCN5A): c.2780A> G (p.Asn927Ser)single nucleotide variantPathogenicrs199473589GRCh37Chr 3, 38627189: 38627189
68SCN5ANM_000335.4(SCN5A): c.2783T> C (p.Leu928Pro)single nucleotide variantPathogenicrs199473178GRCh37Chr 3, 38627186: 38627186
69SCN5ANM_000335.4(SCN5A): c.278T> C (p.Phe93Ser)single nucleotide variantPathogenicrs199473052GRCh37Chr 3, 38671916: 38671916
70SCN5ANM_000335.4(SCN5A): c.2804T> C (p.Leu935Pro)single nucleotide variantPathogenicrs199473179GRCh37Chr 3, 38622846: 38622846
71SCN5ANM_000335.4(SCN5A): c.281T> G (p.Ile94Ser)single nucleotide variantPathogenicrs199473053GRCh37Chr 3, 38671913: 38671913
72SCN5ANM_000335.4(SCN5A): c.283G> A (p.Val95Ile)single nucleotide variantPathogenicrs199473054GRCh37Chr 3, 38671911: 38671911
73SCN5ANM_000335.4(SCN5A): c.2893C> T (p.Arg965Cys)single nucleotide variantPathogenicrs199473180GRCh37Chr 3, 38622757: 38622757
74SCN5ANM_000335.4(SCN5A): c.2894G> A (p.Arg965His)single nucleotide variantPathogenicrs199473181GRCh37Chr 3, 38622756: 38622756
75SCN5ANM_000335.4(SCN5A): c.2989G> A (p.Ala997Thr)single nucleotide variantPathogenicrs137854609GRCh37Chr 3, 38622661: 38622661
76SCN5ANM_000335.4(SCN5A): c.3068G> A (p.Arg1023His)single nucleotide variantPathogenicrs199473592GRCh37Chr 3, 38622582: 38622582
77SCN5ANM_000335.4(SCN5A): c.310C> T (p.Arg104Trp)single nucleotide variantPathogenicrs199473055GRCh37Chr 3, 38671884: 38671884
78SCN5ANM_000335.4(SCN5A): c.311G> A (p.Arg104Gln)single nucleotide variantPathogenicrs199473554GRCh37Chr 3, 38671883: 38671883
79SCN5ANM_000335.4(SCN5A): c.3164A> G (p.Asp1055Gly)single nucleotide variantPathogenicrs199473593GRCh37Chr 3, 38622486: 38622486
80SCN5ANM_000335.4(SCN5A): c.3233C> A (p.Ser1078Tyr)single nucleotide variantPathogenicrs199473188GRCh37Chr 3, 38620979: 38620979
81SCN5ANM_000335.4(SCN5A): c.327C> A (p.Asn109Lys)single nucleotide variantPathogenicrs199473056GRCh37Chr 3, 38671867: 38671867
82SCN5ANM_000335.4(SCN5A): c.3335C> T (p.Ala1112Val)single nucleotide variantPathogenicrs199473194GRCh37Chr 3, 38620877: 38620877
83SCN5ANM_000335.4(SCN5A): c.3416G> C (p.Ser1139Thr)single nucleotide variantPathogenicrs199473199GRCh37Chr 3, 38618244: 38618244
84SCN5ANM_000335.4(SCN5A): c.361C> T (p.Arg121Trp)single nucleotide variantPathogenicrs199473556GRCh37Chr 3, 38671833: 38671833
85SCN5ANM_000335.4(SCN5A): c.362G> A (p.Arg121Gln)single nucleotide variantPathogenicrs199473058GRCh37Chr 3, 38671832: 38671832
86SCN5ANM_000335.4(SCN5A): c.3653G> A (p.Ser1218Asn)single nucleotide variantPathogenicrs199473597GRCh37Chr 3, 38616798: 38616798
87SCN5ANM_000335.4(SCN5A): c.3679T> C (p.Tyr1227His)single nucleotide variantPathogenicrs199473205GRCh37Chr 3, 38608058: 38608058
88SCN5ANM_000335.4(SCN5A): c.3692G> A (p.Arg1231Gln)single nucleotide variantPathogenicrs199473206GRCh37Chr 3, 38608045: 38608045
89SCN5ANM_000335.4(SCN5A): c.3705G> T (p.Lys1235Asn)single nucleotide variantPathogenicrs199473208GRCh37Chr 3, 38608032: 38608032
90SCN5ANM_000335.4(SCN5A): c.3713T> C (p.Leu1238Pro)single nucleotide variantPathogenicrs199473210GRCh37Chr 3, 38608024: 38608024
91SCN5ANM_000335.4(SCN5A): c.3715G> C (p.Glu1239Gln)single nucleotide variantPathogenicrs199473211GRCh37Chr 3, 38608022: 38608022
92SCN5ANM_000335.4(SCN5A): c.3724G> A (p.Asp1242Asn)single nucleotide variantPathogenicrs199473599GRCh37Chr 3, 38608013: 38608013
93SCN5ANM_000335.4(SCN5A): c.3743T> A (p.Val1248Asp)single nucleotide variantPathogenicrs199473213GRCh37Chr 3, 38607994: 38607994
94SCN5ANM_000335.4(SCN5A): c.3755A> G (p.Glu1252Gly)single nucleotide variantPathogenicrs199473214GRCh37Chr 3, 38607982: 38607982
95SCN5ANM_000335.4(SCN5A): c.376A> G (p.Lys126Glu)single nucleotide variantPathogenicrs185492581GRCh37Chr 3, 38671818: 38671818
96SCN5ANM_000335.4(SCN5A): c.3810G> C (p.Trp1270Cys)single nucleotide variantPathogenicrs199473601GRCh37Chr 3, 38607927: 38607927
97SCN5ANM_000335.4(SCN5A): c.3860C> G (p.Ala1287Gly)single nucleotide variantPathogenicrs199473217GRCh37Chr 3, 38604006: 38604006
98SCN5ANM_000335.4(SCN5A): c.3929T> C (p.Leu1310Pro)single nucleotide variantPathogenicrs199473219GRCh37Chr 3, 38603937: 38603937
99SCN5ANM_000335.4(SCN5A): c.3953G> T (p.Gly1318Val)single nucleotide variantPathogenicrs199473220GRCh37Chr 3, 38603913: 38603913
100SCN5ANM_000335.4(SCN5A): c.3965T> G (p.Val1322Gly)single nucleotide variantPathogenicrs199473221GRCh37Chr 3, 38601915: 38601915
101SCN5ANM_000335.4(SCN5A): c.3992C> T (p.Pro1331Leu)single nucleotide variantPathogenicrs199473225GRCh37Chr 3, 38601888: 38601888
102SCN5ANM_000335.4(SCN5A): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs199473550GRCh37Chr 3, 38674796: 38674796
103SCN5ANM_000335.4(SCN5A): c.4015G> A (p.Val1339Ile)single nucleotide variantPathogenicrs199473605GRCh37Chr 3, 38601865: 38601865
104SCN5ANM_000335.4(SCN5A): c.4027T> C (p.Phe1343Leu)single nucleotide variantPathogenicrs199473228GRCh37Chr 3, 38601853: 38601853
105SCN5ANM_000335.4(SCN5A): c.4028T> C (p.Phe1343Ser)single nucleotide variantPathogenicrs199473229GRCh37Chr 3, 38601852: 38601852
106SCN5ANM_000335.4(SCN5A): c.4032G> T (p.Trp1344Cys)single nucleotide variantPathogenicrs199473606GRCh37Chr 3, 38601848: 38601848
107SCN5ANM_000335.4(SCN5A): c.4033C> A (p.Leu1345Ile)single nucleotide variantPathogenicrs199473230GRCh37Chr 3, 38601847: 38601847
108SCN5ANM_000335.4(SCN5A): c.4034T> C (p.Leu1345Pro)single nucleotide variantPathogenicrs199473231GRCh37Chr 3, 38601846: 38601846
109SCN5ANM_000335.4(SCN5A): c.4046T> C (p.Ile1349Thr)single nucleotide variantPathogenicrs199473607GRCh37Chr 3, 38601834: 38601834
110SCN5ANM_000335.4(SCN5A): c.4049T> G (p.Met1350Arg)single nucleotide variantPathogenicrs199473232GRCh37Chr 3, 38601831: 38601831
111SCN5ANM_000335.4(SCN5A): c.4054G> A (p.Val1352Met)single nucleotide variantPathogenicrs199473233GRCh37Chr 3, 38601826: 38601826
112SCN5ANM_000335.4(SCN5A): c.4069G> T (p.Gly1357Trp)single nucleotide variantPathogenicrs199473234GRCh37Chr 3, 38601811: 38601811
113SCN5ANM_000335.4(SCN5A): c.4074G> T (p.Lys1358Asn)single nucleotide variantPathogenicrs199473235GRCh37Chr 3, 38601806: 38601806
114SCN5ANM_000335.4(SCN5A): c.4076T> G (p.Phe1359Cys)single nucleotide variantPathogenicrs199473236GRCh37Chr 3, 38601804: 38601804
115SCN5ANM_000335.4(SCN5A): c.407T> C (p.Leu136Pro)single nucleotide variantPathogenicrs199473557GRCh37Chr 3, 38663966: 38663966
116SCN5ANM_000335.4(SCN5A): c.4085G> A (p.Cys1362Tyr)single nucleotide variantPathogenicrs199473237GRCh37Chr 3, 38601795: 38601795
117SCN5ANM_000335.4(SCN5A): c.4137C> G (p.Asn1379Lys)single nucleotide variantPathogenicrs199473238GRCh37Chr 3, 38601743: 38601743
118SCN5ANM_000335.4(SCN5A): c.4142G> T (p.Ser1381Ile)single nucleotide variantPathogenicrs199473608GRCh37Chr 3, 38601738: 38601738
119SCN5ANM_000335.4(SCN5A): c.4210G> A (p.Val1404Met)single nucleotide variantPathogenicrs199473239GRCh37Chr 3, 38601670: 38601670
120SCN5ANM_000335.4(SCN5A): c.4210G> C (p.Val1404Leu)single nucleotide variantPathogenicrs199473239GRCh37Chr 3, 38601670: 38601670
121SCN5ANM_000335.4(SCN5A): c.4213G> A (p.Gly1405Arg)single nucleotide variantPathogenicrs199473240GRCh37Chr 3, 38601667: 38601667
122SCN5ANM_000335.4(SCN5A): c.4214G> A (p.Gly1405Glu)single nucleotide variantPathogenicrs199473609GRCh37Chr 3, 38601666: 38601666
123SCN5ANM_000335.4(SCN5A): c.4223A> G (p.Tyr1408Cys)single nucleotide variantPathogenicrs199473610GRCh37Chr 3, 38601657: 38601657
124SCN5ANM_000335.4(SCN5A): c.4231C> T (p.Leu1411Phe)single nucleotide variantPathogenicrs199473241GRCh37Chr 3, 38601649: 38601649
125SCN5ANM_000335.4(SCN5A): c.4252A> G (p.Lys1418Glu)single nucleotide variantPathogenicrs199473242GRCh37Chr 3, 38598766: 38598766
126SCN5ANM_000335.4(SCN5A): c.4255G> C (p.Gly1419Arg)single nucleotide variantPathogenicrs199473611GRCh37Chr 3, 38598763: 38598763
127SCN5ANM_000335.4(SCN5A): c.4276G> T (p.Ala1426Ser)single nucleotide variantPathogenicrs199473244GRCh37Chr 3, 38598742: 38598742
128SCN5ANM_000335.4(SCN5A): c.4280C> T (p.Ala1427Val)single nucleotide variantPathogenicrs199473612GRCh37Chr 3, 38598738: 38598738
129SCN5ANM_000335.4(SCN5A): c.4291A> G (p.Arg1431Gly)single nucleotide variantPathogenicrs199473245GRCh37Chr 3, 38598727: 38598727
130SCN5ANM_000335.4(SCN5A): c.4295G> T (p.Gly1432Val)single nucleotide variantPathogenicrs199473247GRCh37Chr 3, 38598723: 38598723
131SCN5ANM_000335.4(SCN5A): c.4310C> T (p.Pro1437Leu)single nucleotide variantPathogenicrs199473248GRCh37Chr 3, 38598056: 38598056
132SCN5ANM_000335.4(SCN5A): c.4318G> C (p.Glu1440Gln)single nucleotide variantPathogenicrs199473249GRCh37Chr 3, 38598048: 38598048
133SCN5ANM_000335.4(SCN5A): c.4339A> C (p.Ile1447Leu)single nucleotide variantPathogenicrs199473250GRCh37Chr 3, 38598027: 38598027
134SCN5ANM_000335.4(SCN5A): c.4340T> C (p.Ile1447Thr)single nucleotide variantPathogenicrs199473251GRCh37Chr 3, 38598026: 38598026
135SCN5ANM_000335.4(SCN5A): c.4343A> G (p.Tyr1448Cys)single nucleotide variantPathogenicrs199473613GRCh37Chr 3, 38598023: 38598023
136SCN5ANM_000335.4(SCN5A): c.4349T> A (p.Val1450Asp)single nucleotide variantPathogenicrs199473252GRCh37Chr 3, 38598017: 38598017
137SCN5ANM_000335.4(SCN5A): c.436G> A (p.Val146Met)single nucleotide variantPathogenicrs199473061GRCh37Chr 3, 38663937: 38663937
138SCN5ANM_000335.4(SCN5A): c.4384A> T (p.Asn1462Tyr)single nucleotide variantPathogenicrs199473614GRCh37Chr 3, 38597982: 38597982
139SCN5ANM_000335.4(SCN5A): c.4399G> T (p.Val1467Phe)single nucleotide variantPathogenicrs199473254GRCh37Chr 3, 38597967: 38597967
140SCN5ANM_000335.4(SCN5A): c.4477T> A (p.Tyr1493Asn)single nucleotide variantPathogenicrs199473261GRCh37Chr 3, 38597209: 38597209
141SCN5ANM_000335.4(SCN5A): c.4498C> G (p.Leu1500Val)single nucleotide variantPathogenicrs199473266GRCh37Chr 3, 38597188: 38597188
142SCN5ANM_000335.4(SCN5A): c.4501G> A (p.Gly1501Ser)single nucleotide variantPathogenicrs199473267GRCh37Chr 3, 38597185: 38597185
143SCN5ANM_000335.4(SCN5A): c.4559T> A (p.Ile1520Lys)single nucleotide variantPathogenicrs199473617GRCh37Chr 3, 38596021: 38596021
144SCN5ANM_000335.4(SCN5A): c.4570G> A (p.Val1524Met)single nucleotide variantPathogenicrs199473269GRCh37Chr 3, 38596010: 38596010
145SCN5ANM_000335.4(SCN5A): c.4577A> G (p.Lys1526Arg)single nucleotide variantPathogenicrs199473270GRCh37Chr 3, 38596003: 38596003
146SCN5ANM_000335.4(SCN5A): c.4639G> A (p.Glu1547Lys)single nucleotide variantPathogenicrs199473271GRCh37Chr 3, 38595941: 38595941
147SCN5ANM_000335.4(SCN5A): c.4654A> C (p.Ser1552Arg)single nucleotide variantPathogenicrs199473272GRCh37Chr 3, 38595926: 38595926
148SCN5ANM_000335.4(SCN5A): c.4702G> C (p.Ala1568Pro)single nucleotide variantPathogenicrs199473273GRCh37Chr 3, 38595878: 38595878
149SCN5ANM_000335.4(SCN5A): c.4709T> G (p.Phe1570Cys)single nucleotide variantPathogenicrs199473274GRCh37Chr 3, 38595871: 38595871
150SCN5ANM_000335.4(SCN5A): c.4717G> A (p.Glu1573Lys)single nucleotide variantPathogenicrs199473620GRCh37Chr 3, 38595863: 38595863
151SCN5ANM_000335.4(SCN5A): c.4742T> C (p.Leu1581Pro)single nucleotide variantPathogenicrs199473275GRCh37Chr 3, 38595838: 38595838
152SCN5ANM_000335.4(SCN5A): c.4744C> T (p.Arg1582Cys)single nucleotide variantPathogenicrs45514691GRCh37Chr 3, 38595836: 38595836
153SCN5ANM_000335.4(SCN5A): c.4745G> A (p.Arg1582His)single nucleotide variantPathogenicrs199473621GRCh37Chr 3, 38595835: 38595835
154SCN5ANM_000335.4(SCN5A): c.4807G> A (p.Val1603Met)single nucleotide variantPathogenicrs199473280GRCh37Chr 3, 38595773: 38595773
155SCN5ANM_000335.4(SCN5A): c.481G> A (p.Glu161Lys)single nucleotide variantPathogenicrs199473062GRCh37Chr 3, 38663892: 38663892
156SCN5ANM_000335.4(SCN5A): c.481G> C (p.Glu161Gln)single nucleotide variantPathogenicrs199473062GRCh37Chr 3, 38663892: 38663892
157SCN5ANM_000335.4(SCN5A): c.4835A> T (p.Gln1612Leu)single nucleotide variantPathogenicrs199473281GRCh37Chr 3, 38593025: 38593025
158SCN5ANM_000335.4(SCN5A): c.4856C> T (p.Thr1619Met)single nucleotide variantPathogenicrs199473282GRCh37Chr 3, 38593004: 38593004
159SCN5ANM_000335.4(SCN5A): c.4882C> G (p.Arg1628Gly)single nucleotide variantPathogenicrs199473284GRCh37Chr 3, 38592978: 38592978
160SCN5ANM_000335.4(SCN5A): c.4883G> A (p.Arg1628Gln)single nucleotide variantPathogenicrs199473623GRCh37Chr 3, 38592977: 38592977
161SCN5ANM_000335.4(SCN5A): c.4922G> A (p.Gly1641Glu)single nucleotide variantPathogenicrs199473624GRCh37Chr 3, 38592938: 38592938
162SCN5ANM_000335.4(SCN5A): c.4943C> T (p.Ala1648Val)single nucleotide variantPathogenicrs199473289GRCh37Chr 3, 38592917: 38592917
163SCN5ANM_000335.4(SCN5A): c.4975A> G (p.Ile1659Val)single nucleotide variantPathogenicrs199473625GRCh37Chr 3, 38592885: 38592885
164SCN5ANM_000335.4(SCN5A): c.4978G> C (p.Gly1660Arg)single nucleotide variantPathogenicrs199473292GRCh37Chr 3, 38592882: 38592882
165SCN5ANM_000335.4(SCN5A): c.4G> A (p.Ala2Thr)single nucleotide variantPathogenicrs199473042GRCh37Chr 3, 38674795: 38674795
166SCN5ANM_000335.4(SCN5A): c.5012C> A (p.Ser1671Tyr)single nucleotide variantPathogenicrs199473626GRCh37Chr 3, 38592848: 38592848
167SCN5ANM_000335.4(SCN5A): c.5035G> A (p.Ala1679Thr)single nucleotide variantPathogenicrs199473294GRCh37Chr 3, 38592825: 38592825
168SCN5ANM_000335.4(SCN5A): c.5089G> A (p.Ala1697Thr)single nucleotide variantPathogenicrs199473295GRCh37Chr 3, 38592771: 38592771
169SCN5ANM_000335.4(SCN5A): c.5115G> C (p.Gln1705His)single nucleotide variantPathogenicrs199473296GRCh37Chr 3, 38592745: 38592745
170SCN5ANM_000335.4(SCN5A): c.5123C> G (p.Thr1708Arg)single nucleotide variantPathogenicrs199473297GRCh37Chr 3, 38592737: 38592737
171SCN5ANM_000335.4(SCN5A): c.5123C> T (p.Thr1708Met)single nucleotide variantPathogenicrs199473297GRCh37Chr 3, 38592737: 38592737
172SCN5ANM_000335.4(SCN5A): c.5131G> A (p.Gly1711Ser)single nucleotide variantPathogenicrs199473298GRCh37Chr 3, 38592729: 38592729
173SCN5ANM_000335.4(SCN5A): c.5138A> G (p.Asp1713Gly)single nucleotide variantPathogenicrs199473628GRCh37Chr 3, 38592722: 38592722
174SCN5ANM_000335.4(SCN5A): c.5161A> G (p.Asn1721Asp)single nucleotide variantPathogenicrs199473299GRCh37Chr 3, 38592699: 38592699
175SCN5ANM_000335.4(SCN5A): c.5179T> C (p.Cys1727Arg)single nucleotide variantPathogenicrs199473302GRCh37Chr 3, 38592681: 38592681
176SCN5ANM_000335.4(SCN5A): c.5181C> G (p.Cys1727Trp)single nucleotide variantPathogenicrs193922726GRCh37Chr 3, 38592679: 38592679
177SCN5ANM_000335.4(SCN5A): c.5215G> A (p.Gly1739Arg)single nucleotide variantPathogenicrs199473304GRCh37Chr 3, 38592645: 38592645
178SCN5ANM_000335.4(SCN5A): c.5225G> A (p.Gly1742Glu)single nucleotide variantPathogenicrs199473629GRCh37Chr 3, 38592635: 38592635
179SCN5ANM_000335.4(SCN5A): c.525G> C (p.Lys175Asn)single nucleotide variantPathogenicrs199473063GRCh37Chr 3, 38662420: 38662420
180SCN5ANM_000335.4(SCN5A): c.5287G> T (p.Val1763Phe)single nucleotide variantPathogenicrs199473309GRCh37Chr 3, 38592573: 38592573
181SCN5ANM_000335.4(SCN5A): c.5318A> G (p.Asn1773Ser)single nucleotide variantPathogenicrs199473313GRCh37Chr 3, 38592542: 38592542
182SCN5ANM_000335.4(SCN5A): c.5333C> T (p.Thr1778Met)single nucleotide variantPathogenicrs199473634GRCh37Chr 3, 38592527: 38592527
183SCN5ANM_000335.4(SCN5A): c.533C> G (p.Ala178Gly)single nucleotide variantPathogenicrs199473065GRCh37Chr 3, 38662412: 38662412
184SCN5ANM_000335.4(SCN5A): c.544T> C (p.Cys182Arg)single nucleotide variantPathogenicrs199473066GRCh37Chr 3, 38662401: 38662401
185SCN5ANM_000335.4(SCN5A): c.5546G> C (p.Cys1849Ser)single nucleotide variantPathogenicrs199473322GRCh37Chr 3, 38592314: 38592314
186SCN5ANM_000335.4(SCN5A): c.554C> T (p.Ala185Val)single nucleotide variantPathogenicrs199473067GRCh37Chr 3, 38662391: 38662391
187SCN5ANM_000335.4(SCN5A): c.5578G> A (p.Val1860Ile)single nucleotide variantPathogenicrs199473636GRCh37Chr 3, 38592282: 38592282
188SCN5ANM_000335.4(SCN5A): c.560C> T (p.Thr187Ile)single nucleotide variantPathogenicrs199473558GRCh37Chr 3, 38662385: 38662385
189SCN5ANM_000335.4(SCN5A): c.5613G> C (p.Lys1871Asn)single nucleotide variantPathogenicrs199473323GRCh37Chr 3, 38592247: 38592247
190SCN5ANM_000335.4(SCN5A): c.5800G> A (p.Gly1934Ser)single nucleotide variantPathogenicrs199473637GRCh37Chr 3, 38592060: 38592060
191SCN5ANM_000335.4(SCN5A): c.5809G> A (p.Glu1937Lys)single nucleotide variantPathogenicrs199473329GRCh37Chr 3, 38592051: 38592051
192SCN5ANM_000335.4(SCN5A): c.5900T> G (p.Ile1967Ser)single nucleotide variantPathogenicrs199473639GRCh37Chr 3, 38591960: 38591960
193SCN5ANM_000335.4(SCN5A): c.611C> T (p.Ala204Val)single nucleotide variantPathogenicrs199473559GRCh37Chr 3, 38662334: 38662334
194SCN5ANM_000335.4(SCN5A): c.635T> A (p.Leu212Gln)single nucleotide variantPathogenicrs199473070GRCh37Chr 3, 38655302: 38655302
195SCN5ANM_000335.4(SCN5A): c.667G> C (p.Val223Leu)single nucleotide variantPathogenicrs199473560GRCh37Chr 3, 38655270: 38655270
196SCN5ANM_000335.4(SCN5A): c.677C> T (p.Ala226Val)single nucleotide variantPathogenicrs199473561GRCh37Chr 3, 38655260: 38655260
197SCN5ANM_000335.4(SCN5A): c.688A> G (p.Ile230Val)single nucleotide variantPathogenicrs199473074GRCh37Chr 3, 38655249: 38655249
198SCN5ANM_000335.4(SCN5A): c.694G> A (p.Val232Ile)single nucleotide variantPathogenicrs45471994GRCh37Chr 3, 38655243: 38655243
199SCN5ANM_000335.4(SCN5A): c.718G> A (p.Val240Met)single nucleotide variantPathogenicrs199473076GRCh37Chr 3, 38651441: 38651441
200SCN5ANM_000335.4(SCN5A): c.808C> A (p.Gln270Lys)single nucleotide variantPathogenicrs199473079GRCh37Chr 3, 38651351: 38651351
201SCN5ANM_000335.4(SCN5A): c.827T> A (p.Leu276Gln)single nucleotide variantPathogenicrs199473081GRCh37Chr 3, 38651332: 38651332
202SCN5ANM_000335.4(SCN5A): c.832C> G (p.His278Asp)single nucleotide variantPathogenicrs199473562GRCh37Chr 3, 38651327: 38651327
203SCN5ANM_000335.4(SCN5A): c.844C> T (p.Arg282Cys)single nucleotide variantPathogenicrs199473082GRCh37Chr 3, 38651315: 38651315
204SCN5ANM_000335.4(SCN5A): c.845G> A (p.Arg282His)single nucleotide variantPathogenicrs199473083GRCh37Chr 3, 38651314: 38651314
205SCN5ANM_000335.4(SCN5A): c.874G> A (p.Gly292Ser)single nucleotide variantPathogenicrs199473085GRCh37Chr 3, 38651285: 38651285
206SCN5ANM_000335.4(SCN5A): c.880G> A (p.Val294Met)single nucleotide variantPathogenicrs199473086GRCh37Chr 3, 38651279: 38651279
207SCN5ANM_000335.4(SCN5A): c.898G> A (p.Val300Ile)single nucleotide variantPathogenicrs199473088GRCh37Chr 3, 38651261: 38651261
208SCN5ANM_000335.4(SCN5A): c.944T> C (p.Leu315Pro)single nucleotide variantPathogenicrs199473564GRCh37Chr 3, 38649696: 38649696
209SCN5ANM_000335.4(SCN5A): c.951G> C (p.Lys317Asn)single nucleotide variantPathogenicrs199473089GRCh37Chr 3, 38649689: 38649689
210SCN5ANM_000335.4(SCN5A): c.955G> A (p.Gly319Ser)single nucleotide variantPathogenicrs199473090GRCh37Chr 3, 38649685: 38649685
211SCN5ANM_000335.4(SCN5A): c.959C> A (p.Thr320Asn)single nucleotide variantPathogenicrs199473091GRCh37Chr 3, 38649681: 38649681
212SCN5ANM_000335.4(SCN5A): c.974T> G (p.Leu325Arg)single nucleotide variantPathogenicrs199473092GRCh37Chr 3, 38649666: 38649666
213SCN5ANM_000335.4(SCN5A): c.4856C> T (p.Thr1619Met)single nucleotide variantPathogenicrs199473282GRCh37Chr 3, 38593004: 38593004
214SCN5ANM_000335.4(SCN5A): c.5767G> A (p.Ala1923Thr)single nucleotide variantPathogenicrs137854603GRCh37Chr 3, 38592093: 38592093
215SCN5ANM_000335.4(SCN5A): c.1100G> A (p.Arg367His)single nucleotide variantPathogenicrs28937318GRCh37Chr 3, 38648200: 38648200
216SCN5ANM_000335.4(SCN5A): c.2204C> T (p.Ala735Val)single nucleotide variantPathogenicrs137854611GRCh37Chr 3, 38639278: 38639278
217SCN5ANM_000335.4(SCN5A): c.4219G> A (p.Gly1407Arg)single nucleotide variantPathogenicrs137854612GRCh37Chr 3, 38601661: 38601661
218SCN5ANM_000335.4(SCN5A): c.659C> T (p.Thr220Ile)single nucleotide variantPathogenicrs45620037GRCh37Chr 3, 38655278: 38655278
219SCN5ANM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His)single nucleotide variantPathogenicrs137854615GRCh37Chr 3, 38592480: 38592480
220SCN5ANM_000335.4(SCN5A): c.3781G> A (p.Gly1261Ser)single nucleotide variantPathogenicrs137854616GRCh37Chr 3, 38607956: 38607956
221SCN5ANM_000335.4(SCN5A): c.3820G> A (p.Asp1274Asn)single nucleotide variantPathogenicrs137854618GRCh37Chr 3, 38607917: 38607917
222SCN5ANM_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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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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Sources:
51PathCards, 54QIAGEN, 31KEGG, 56Reactome, 39NCBI BioSystems Database, 52PharmGKB
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Compounds for genes affiliated with Brugada Syndrome

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Sources:
46Novoseek, 30IUPHAR, 52PharmGKB, 25HMDB, 12DrugBank, 62Tocris Bioscience
See all sources

Compounds related to Brugada Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1verapamil46 30 52 25 1213.3SCN5A, CACNB2
2qx 314 chloride629.1SCN1B, SCN3B, SCN5A
3phrixotoxin 3629.1SCN3B, SCN5A, SCN1B
4tetrodotoxin citrate629.1SCN3B, SCN5A, SCN1B
5veratridine46 62 3011.0SCN1B, SCN5A, SCN3B
6zonisamide46 52 1211.0SCN3B, SCN5A, SCN1B
7tetrodotoxin46 62 3010.9SCN1B, SCN5A, SCN3B
8sodium46 259.6SCN3B, SCN5A, SCN1B
9potassium46 25 1210.5SCN5A, SCN1B, KCNE3

GO Terms for genes affiliated with Brugada Syndrome

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Sources:
17Gene Ontology
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Cellular components related to Brugada Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intercalated discGO:0147049.3SCN5A, SCN1B
2sarcolemmaGO:0423839.3CACNB2, SCN5A
3T-tubuleGO:0303159.1SCN5A, SCN1B
4voltage-gated sodium channel complexGO:0015188.9SCN3B, SCN5A, SCN1B

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

(show all 17)
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
3membrane depolarization during action potentialGO:0860109.4SCN3B, SCN5A
4regulation of sodium ion transmembrane transporter activityGO:20006499.3SCN1B, SCN3B, GPD1L
5sodium ion transportGO:0068149.3SCN5A, SCN3B
6regulation of heart rateGO:0020279.3SCN5A, GPD1L
7regulation of atrial cardiac muscle cell membrane depolarizationGO:0603719.2SCN3B, SCN1B, SCN5A
8membrane depolarization during cardiac muscle cell action potentialGO:0860129.2SCN5A, SCN1B, SCN3B
9cardiac muscle cell action potential involved in contractionGO:0860029.2SCN5A, SCN1B, SCN3B
10regulation of ventricular cardiac muscle cell membrane depolarizationGO:0603739.2GPD1L, SCN3B, SCN5A
11regulation of heart rate by cardiac conductionGO:0860919.1SCN1B, SCN5A, SCN3B
12membrane depolarizationGO:0518999.1SCN1B, SCN5A, SCN3B
13ventricular cardiac muscle cell action potentialGO:0860059.1SCN5A, GPD1L, SCN3B
14cardiac muscle contractionGO:0600489.1SCN3B, SCN1B, SCN5A
15sodium ion transmembrane transportGO:0357259.1SCN1B, SCN5A, SCN3B
16positive regulation of sodium ion transportGO:0107658.8GPD1L, SCN1B, SCN5A, SCN3B
17axon guidanceGO:0074118.7CACNB2, SCN3B, SCN1B

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

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activity involved in cardiac muscle cell action potentialGO:0860068.9SCN1B, SCN5A, SCN3B
2ion channel bindingGO:0443258.9SCN5A, GPD1L, SCN3B
3voltage-gated sodium channel activityGO:0052488.8SCN3B, SCN1B, SCN5A
4sodium channel regulator activityGO:0170808.8SCN1B, GPD1L, SCN3B

Products for genes affiliated with Brugada Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brugada Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet