MCID: LNG028
MIFTS: 62

Long Qt Syndrome malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Long Qt Syndrome

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Sources:
9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 38NCIt, 27ICD9CM, 61UMLS via Orphanet, 26ICD10 via Orphanet
See all sources

Long Qt Syndrome, Aliases & Descriptions:

Name: Long Qt Syndrome 9 41 11 43 60
Congenital Long Qt Syndrome 41 47 60
Romano-Ward Syndrome 9 19 60
Long Q-T Syndrome 9 20 22
 
Familial Long Qt Syndrome 41 47
Long Qt Syndrome, Autosomal Dominant 19
Romano-Ward Long Qt Syndrome 19
Lqt 9


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
congenital long qt syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:2843
MeSH33 D008133
NCIt38 C34786
ICD9CM27 426.82
Orphanet47 768
UMLS via Orphanet61 C1141890
ICD10 via Orphanet26 I45.8

Summaries for Long Qt Syndrome

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NIH Rare Diseases:41 Long qt syndrome is a disorder of the heart’s electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death. long qt syndrome can be detected by electrocardiogram (ekg). it can be caused by a variety of different gene mutations (changes). it can also be acquired (noninherited) and may be brought on by certain medicines and other medical conditions. last updated: 10/4/2013

MalaCards based summary: Long Qt Syndrome, also known as congenital long qt syndrome, is related to atrioventricular block and timothy syndrome, and has symptoms including sensorineural hearing impairment, arrhythmia and arrhythmia. An important gene associated with Long Qt Syndrome is SCN5A (sodium channel, voltage-gated, type V, alpha subunit), and among its related pathways are Interaction between L1 and Ankyrins and Inwardly rectifying K+ channels. The compounds chromanol and clofilium have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and colon, and related mouse phenotypes are behavior/neurological and muscle.

Disease Ontology:9 An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (tdp, a form of irregular heartbeat that originates from the ventricles).

Wikipedia:63 Long QT syndrome (LQTS) is a rare inherited or acquired heart condition in which delayed repolarization... more...

GeneReviews summary for rws

Related Diseases for Long Qt Syndrome

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Diseases in the Long Qt Syndrome family:

Long Qt Syndrome 9 Long Qt Syndrome 2
Long Qt Syndrome 1 Long Qt Syndrome 13
Long Qt Syndrome 12 Long Qt Syndrome 6
Long Qt Syndrome 5 Long Qt Syndrome-3
Long Qt Syndrome-11 Long Qt Syndrome-10

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

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1atrioventricular block31.7SCN5A, KCNH2
2timothy syndrome31.6SCN4B, KCNE1
3andersen syndrome31.6KCNJ2
4sudden infant death syndrome31.5CAV3, SCN5A
5long qt syndrome 931.5CAV3
6catecholaminergic polymorphic ventricular tachycardia31.5RYR2
7long qt syndrome 131.4KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A
8jervell and lange-nielsen syndrome31.3KCNE1, KCNQ1
9hypertrophic cardiomyopathy31.2MYH7
10familial atrial fibrillation30.9KCNE2, KCNQ1, SCN5A
11dilated cardiomyopathy30.7RYR2, MYH7, SCN5A
12brugada syndrome30.7KCNH2, KCNE1, ANK2, SCN5A, SCN4B, KCND3
13congenital heart disease30.5KCNJ2, KCNQ1, RYR2
14atrial fibrillation30.4RYR2, SLN, SCN5A, KCNQ1, KCNE1, KCNJ2
15long qt syndrome 210.7
16long qt syndrome 1310.6
17syncope10.6
18scn5a-related romano ward syndrome10.6
19long qt syndrome 1210.6
20long qt syndrome 510.6
21long qt syndrome-310.5
22short qt syndrome 210.5KCNQ1
23long qt syndrome 610.5
24long qt syndrome-1110.5
25syndactyly10.5
26cardiac arrhythmia, ankyrin-b-related10.5
27long qt syndrome-1010.5
28short qt syndrome10.5
29brugada syndrome 110.5SCN5A
30caveolinopathies10.4CAV3
31fainting10.4
32hypokalemia10.4
33left ventricular noncompaction10.4
34wolcott-rallison syndrome10.3
35sensorineural hearing loss10.3KCNQ1, KCNE1
36congenital heart block10.3SCN5A, SCN4B, KCNQ1, KCNE2
37tetralogy of fallot10.3
38kearns-sayre syndrome10.3
39stress cardiomyopathy10.3
40seizure disorder10.3
41distal muscular dystrophy10.3MYH7, CAV3
42arrhythmogenic right ventricular cardiomyopathy10.2RYR2, SCN5A
43spinocerebellar ataxia10.1KCNH2, SCN5A, MYH7, RYR2
44asthma10.1
45brugada syndrome 210.1
46beckwith-wiedemann syndrome10.1
47marfan syndrome10.1
48hemochromatosis10.1
49aplastic anemia10.1
50cardiac conduction defect10.1

Graphical network of the top 20 diseases related to Long Qt Syndrome:



Diseases related to long qt syndrome

Symptoms for Long Qt Syndrome

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Symptoms:

 47 (show all 7)
  • sensorineural deafness/hearing loss
  • cardiac rhythm disorder/arrhythmia
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • situs inversus visceralis/colon/intestine trasposition/heterotaxia
  • anaemia

HPO human phenotypes related to Long Qt Syndrome:

id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 arrhythmia hallmark (90%) HP:0011675
3 arrhythmia typical (50%) HP:0011675
4 anemia occasional (7.5%) HP:0001903
5 abdominal situs inversus occasional (7.5%) HP:0003363

Drugs & Therapeutics for Long Qt Syndrome

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Drug clinical trials:

Search ClinicalTrials for Long Qt Syndrome

Search NIH Clinical Center for Long Qt Syndrome

Genetic Tests for Long Qt Syndrome

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Genetic tests related to Long Qt Syndrome:

id Genetic test Affiliating Genes
1 Long Qt Syndrome Multi-Gene Panels20
2 Long Qt Syndrome22

Anatomical Context for Long Qt Syndrome

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MalaCards organs/tissues related to Long Qt Syndrome:

31
Heart, Testes, Colon, Brain, Eye

Animal Models for Long Qt Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Long Qt Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.6KCNQ1, KCND2, SCN5A, ANK2, SNTA1, RYR2
2MP:00053697.8KCNH2, KCNJ2, KCNQ1, SCN5A, SNTA1, CAV3
3MP:00053767.7KCNH2, KCNJ2, KCNE1, KCNE2, KCNQ1, AKAP9
4MP:00053857.1RYR2, KCNJ5, KCNH2, KCNJ2, KCNE1, KCNQ1

Publications for Long Qt Syndrome

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Articles related to Long Qt Syndrome:

(show top 50)    (show all 860)
idTitleAuthorsYear
1
Analysis for Genetic Modifiers of Disease Severity in Patients with Long QT Syndrome Type 2. (25737393)
2015
2
Sudden Cardiac Arrest During Sex in Patients with Either Catecholaminergic Polymorphic Ventricular Tachycardia or Long-QT Syndrome: A Rare But Shocking Experience. (25514987)
2015
3
The Use by Medical Examiners of Genetic Testing for Long QT Syndrome in Suspected Sudden Cardiac Death. (25357104)
2014
4
Clinical Profile of Pediatric Patients with Long QT Syndrome Masquerading as Seizures. (24408398)
2014
5
Risk factors for symptoms in long QT syndrome patients in a single pediatric center. (23566084)
2013
6
Duloxetine-induced life-threatening long QT syndrome. (23440523)
2013
7
QRS fragmentation in acquired long QT syndrome does not always predict torsades of pointes tachycardia: a case report. (23949550)
2013
8
Congenital long QT syndrome with compound mutations in the KCNH2 gene. (24057343)
2013
9
An adolescent with possible arrhythmogenic right ventricular dysplasia and long QT syndrome: evaluation and management. (23347029)
2013
10
Stress proneness in molecularly defined long QT syndrome: a study using temperament assessment by behavioural inhibition system scale. (22936642)
2013
11
Clinical utility gene card for: long-QT syndrome (types 1-13). (23511927)
2013
12
A novel mutation in the transmembrane nonpore region of the KCNH2 gene causes severe clinical manifestations of long QT syndrome. (23010577)
2013
13
Silent mutation in long QT syndrome: pathogenicity prediction by computer simulation. (22001705)
2012
14
Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner. (22199116)
2012
15
Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to I^-blocker therapy in type 1 long-QT syndrome. (22456477)
2012
16
Do infants die of sudden infant death syndrome (SIDS) with long QT syndrome (LQTS) or from LQTS? (22868671)
2012
17
Long QT syndrome mutation detection by SNaPshot technique. (21769575)
2012
18
A KCNE1 missense variant (V47I) causing exercise-induced long QT syndrome (Romano Ward). (21907427)
2012
19
Dexmedetomidine and clonidine inhibit ventricular tachyarrhythmias in a rabbit model of acquired long QT syndrome. (22786471)
2012
20
Sex hormones and cardiac arrest in long QT syndrome: does progesterone represent a potential new antiarrhythmic therapy? (22381742)
2012
21
Three generations of hereditary long-QT syndrome with complete penetrance caused by the p.G316E KCNQ1 mutation. (20981542)
2011
22
Impaired cardiac sympathetic innervation in symptomatic patients with long QT syndrome. (21691919)
2011
23
Risk of recurrent cardiac events after onset of menopause in women with congenital long-QT syndrome types 1 and 2. (21632495)
2011
24
Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation. (21367833)
2011
25
Vasovagal syncope as a cause of syncope in long-QT syndrome. (21718921)
2011
26
Torsade de pointes during sevoflurane anesthesia and fluconazole infusion in a patient with long QT syndrome. A case report. (21919379)
2011
27
A rare association of long QT syndrome and syndactyly: Timothy syndrome (LQT 8). (21915623)
2011
28
Placement of an implantable cardioverter-defibrillator in an infant with congenital long QT syndrome: anesthetic considerations. (21636934)
2011
29
Trafficking defects and gating abnormalities of a novel SCN5A mutation question gene-specific therapy in long QT syndrome type 3. (20339117)
2010
30
Trigger-specific risk factors and response to therapy in long QT syndrome type 2. (20850565)
2010
31
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. (19926015)
2009
32
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation. (18929331)
2008
33
Mechanisms of cardiac arrhythmias and sudden death in transgenic rabbits with long QT syndrome. (18464931)
2008
34
SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. (17592081)
2007
35
Mutation of an A-kinase-anchoring protein causes long-QT syndrome. (18093912)
2007
36
Letter by O'Rourke regarding articles, "Prevalence of long-QT syndrome gene variants in sudden infant death syndrome," "Cardiac sodium channel dysfunction in sudden infant death syndrome," and "Contribution of long-QT syndrome genes to sudden infant death syndrome: is it time to consider newborn electrocardiographic screening?". (17646591)
2007
37
Long-QT syndrome-related sodium channel mutations probed by the dynamic action potential clamp technique. (16254012)
2006
38
Long QT syndrome and short QT syndrome: how to make correct diagnosis and what about eligibility for sports activity. (16645398)
2006
39
Effect of physical training on ventricular repolarization in type 1 long QT syndrome: a pilot study in asymptomatic carriers of the G589D KCNQ1 mutation. (16882680)
2006
40
Developmental aspects of long QT syndrome type 3 and Brugada syndrome on the basis of a single SCN5A mutation in childhood. (16022964)
2005
41
Neonatal forms of congenital long QT syndrome]. (15214551)
2004
42
Mutant MiRP1 subunits modulate HERG K+ channel gating: a mechanism for pro-arrhythmia in long QT syndrome type 6. (12923204)
2003
43
Electrical alternans in long QT syndrome resembling a Brugada syndrome pattern. (14516346)
2003
44
A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. (9702906)
1998
45
Single-channel characteristics of wild-type IKs channels and channels formed with two minK mutants that cause long QT syndrome. (9834138)
1998
46
Genetics, molecular mechanisms and management of long QT syndrome. (9556090)
1998
47
Molecular biology of the long QT syndrome: impact on management. (9272507)
1997
48
Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. (9323054)
1997
49
Genetically defined therapy of inherited long-QT syndrome. Correction of abnormal repolarization by potassium. (8790040)
1996
50
A new form of long QT syndrome associated with syndactyly. (7798527)
1995

Variations for Long Qt Syndrome

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Clinvar genetic disease variations for Long Qt Syndrome:

6 (show all 894)
id Gene Variation Type Significance SNP ID Assembly Location
1KCNQ1NM_000218.2(KCNQ1): c.1071delG (p.Lys358Serfs)deletionPathogenicrs515726226GRCh38Chr 11, 2585250: 2585250
2KCNE1NM_000219.5(KCNE1): c.107G> A (p.Arg36His)single nucleotide variantPathogenicrs199473351GRCh37Chr 21, 35821826: 35821826
3KCNE1NM_000219.5(KCNE1): c.139G> T (p.Val47Phe)single nucleotide variantPathogenicrs199473353GRCh37Chr 21, 35821794: 35821794
4KCNE1NM_000219.5(KCNE1): c.154G> A (p.Gly52Arg)single nucleotide variantPathogenicrs199473354GRCh37Chr 21, 35821779: 35821779
5KCNE1NM_000219.5(KCNE1): c.158T> C (p.Phe53Ser)single nucleotide variantPathogenicrs199473355GRCh37Chr 21, 35821775: 35821775
6KCNE1NM_000219.5(KCNE1): c.163G> A (p.Gly55Ser)single nucleotide variantPathogenicrs199473644GRCh37Chr 21, 35821770: 35821770
7KCNE1NM_000219.5(KCNE1): c.172A> C (p.Thr58Pro)single nucleotide variantPathogenicrs147187721GRCh37Chr 21, 35821761: 35821761
8KCNE1NM_000219.5(KCNE1): c.176T> C (p.Leu59Pro)single nucleotide variantPathogenicrs141813529GRCh37Chr 21, 35821757: 35821757
9KCNE1NM_000219.5(KCNE1): c.199C> T (p.Arg67Cys)single nucleotide variantPathogenicrs199473645GRCh37Chr 21, 35821734: 35821734
10KCNE1NM_000219.5(KCNE1): c.200G> A (p.Arg67His)single nucleotide variantPathogenicrs79654911GRCh37Chr 21, 35821733: 35821733
11KCNE1NM_000219.5(KCNE1): c.209A> T (p.Lys70Met)single nucleotide variantPathogenicrs199473646GRCh37Chr 21, 35821724: 35821724
12KCNE1NM_000219.5(KCNE1): c.210G> C (p.Lys70Asn)single nucleotide variantPathogenicrs199473356GRCh37Chr 21, 35821723: 35821723
13KCNE1NM_000219.5(KCNE1): c.23C> T (p.Ala8Val)single nucleotide variantPathogenicrs199473348GRCh37Chr 21, 35821910: 35821910
14KCNE1NM_000219.5(KCNE1): c.242A> G (p.Tyr81Cys)single nucleotide variantPathogenicrs199473359GRCh37Chr 21, 35821691: 35821691
15KCNE1NM_000219.5(KCNE1): c.247G> A (p.Glu83Lys)single nucleotide variantPathogenicrs199473360GRCh37Chr 21, 35821686: 35821686
16KCNE1NM_000219.5(KCNE1): c.259T> C (p.Trp87Arg)single nucleotide variantPathogenicrs199473361GRCh37Chr 21, 35821674: 35821674
17KCNE1NM_000219.5(KCNE1): c.292C> T (p.Arg98Trp)single nucleotide variantPathogenicrs199473362GRCh37Chr 21, 35821641: 35821641
18KCNE1NM_000219.5(KCNE1): c.29C> T (p.Thr10Met)single nucleotide variantPathogenicrs144917638GRCh37Chr 21, 35821904: 35821904
19KCNE1NM_000219.5(KCNE1): c.374C> T (p.Thr125Met)single nucleotide variantPathogenicrs142511345GRCh37Chr 21, 35821559: 35821559
20KCNE1NM_000219.5(KCNE1): c.379C> A (p.Pro127Thr)single nucleotide variantPathogenicrs199473647GRCh37Chr 21, 35821554: 35821554
21KCNE1NM_000219.5(KCNE1): c.59C> T (p.Thr20Ile)single nucleotide variantPathogenicrs199473349GRCh37Chr 21, 35821874: 35821874
22KCNE1NM_000219.5(KCNE1): c.83C> T (p.Ser28Leu)single nucleotide variantPathogenicrs199473350GRCh37Chr 21, 35821850: 35821850
23KCNE1NM_000219.5(KCNE1): c.95G> A (p.Arg32His)single nucleotide variantLikely pathogenicrs17857111GRCh37Chr 21, 35821838: 35821838
24KCNE1NM_000219.5(KCNE1): c.172_177delACCCTGinsCCCCCT (p.Thr58_Leu59delinsProPro)indelPathogenicrs281865421GRCh37Chr 21, 35821756: 35821761
25KCNE1NM_000219.5(KCNE1): c.20C> T (p.Thr7Ile)single nucleotide variantPathogenicrs28933384GRCh37Chr 21, 35821913: 35821913
26KCNE1NM_000219.5(KCNE1): c.226G> A (p.Asp76Asn)single nucleotide variantPathogenicrs74315445GRCh37Chr 21, 35821707: 35821707
27KCNE1NM_000219.5(KCNE1): c.221C> T (p.Ser74Leu)single nucleotide variantPathogenicrs74315446GRCh37Chr 21, 35821712: 35821712
28KCNH2NM_000238.3(KCNH2): c.1682C> T (p.Ala561Val)single nucleotide variantPathogenicrs121912504GRCh37Chr 7, 150648799: 150648799
29KCNH2NM_000238.3(KCNH2): c.1408A> G (p.Asn470Asp)single nucleotide variantPathogenicrs121912505GRCh37Chr 7, 150649662: 150649662
30KCNH2NM_000238.3(KCNH2): c.1778T> G (p.Ile593Arg)single nucleotide variantPathogenicrs28928904GRCh37Chr 7, 150648703: 150648703
31KCNH2NM_000238.3(KCNH2): c.2464G> A (p.Val822Met)single nucleotide variantPathogenicrs121912506GRCh37Chr 7, 150646072: 150646072
32KCNH2NM_000238.3(KCNH2): c.1882G> A (p.Gly628Ser)single nucleotide variantPathogenicrs121912507GRCh37Chr 7, 150648599: 150648599
33KCNH2NM_000238.3(KCNH2): c.1744C> T (p.Arg582Cys)single nucleotide variantPathogenicrs121912508GRCh37Chr 7, 150648737: 150648737
34KCNH2NM_000238.3(KCNH2): c.1714G> C (p.Gly572Arg)single nucleotide variantPathogenicrs9333649GRCh37Chr 7, 150648767: 150648767
35KCNH2NM_000238.3(KCNH2): c.1468G> A (p.Ala490Thr)single nucleotide variantPathogenicrs28928905GRCh37Chr 7, 150649602: 150649602
36KCNH2NM_000238.3(KCNH2): c.2453C> T (p.Ser818Leu)single nucleotide variantPathogenicrs121912510GRCh37Chr 7, 150646083: 150646083
37KCNH2NM_000238.3(KCNH2): c.2350C> T (p.Arg784Trp)single nucleotide variantPathogenic, risk factorrs12720441GRCh37Chr 7, 150647304: 150647304
38KCNH2NM_000238.3(KCNH2): c.193A> C (p.Thr65Pro)single nucleotide variantPathogenicrs121912511GRCh37Chr 7, 150671913: 150671913
39KCNH2NM_000238.3(KCNH2): c.2255G> A (p.Arg752Gln)single nucleotide variantPathogenicrs121912512GRCh37Chr 7, 150647399: 150647399
40KCNH2NM_000238.3(KCNH2): c.2582A> T (p.Asn861Ile)single nucleotide variantPathogenicrs121912513GRCh37Chr 7, 150645954: 150645954
41KCNH2NM_000238.3(KCNH2): c.2842C> T (p.Arg948Cys)single nucleotide variantPathogenicrs121912514GRCh37Chr 7, 150644817: 150644817
42KCNH2NM_000238.3(KCNH2): c.298C> G (p.Arg100Gly)single nucleotide variantPathogenicrs121912515GRCh37Chr 7, 150671808: 150671808
43KCNH2NM_000238.3(KCNH2): c.2738C> T (p.Ala913Val)single nucleotide variantPathogenicrs77331749GRCh37Chr 7, 150644921: 150644921
44KCNH2NM_000238.3(KCNH2): c.1672G> C (p.Ala558Pro)single nucleotide variantPathogenicrs121912516GRCh37Chr 7, 150648809: 150648809
45CACNA1CNM_000719.6(CACNA1C): c.1216G> A (p.Gly406Arg)single nucleotide variantPathogenicrs79891110GRCh37Chr 12, 2614110: 2614110
46CACNA1CNM_000719.6(CACNA1C): c.1204G> A (p.Gly402Ser)single nucleotide variantPathogenicrs80315385GRCh37Chr 12, 2614098: 2614098
47ANK2NM_001127493.1(ANK2): c.4346A> G (p.Glu1449Gly)single nucleotide variantPathogenicrs72544141GRCh37Chr 4, 114269433: 114269433
48KCNH2NM_000238.3(KCNH2): c.1841C> T (p.Ala614Val)single nucleotide variantPathogenicrs199472944GRCh37Chr 7, 150648640: 150648640
49KCNH2NM_000238.3(KCNH2): c.1831T> C (p.Tyr611His)single nucleotide variantPathogenicrs199472942GRCh37Chr 7, 150648650: 150648650
50KCNJ2NM_000891.2(KCNJ2): c.913A> C (p.Thr305Pro)single nucleotide variantPathogenicrs199473387GRCh37Chr 17, 68172093: 68172093
51KCNQ1NM_000218.2(KCNQ1): c.532G> C (p.Ala178Pro)single nucleotide variantPathogenicrs120074177GRCh37Chr 11, 2591912: 2591912
52KCNQ1NM_000218.2(KCNQ1): c.565G> A (p.Gly189Arg)single nucleotide variantPathogenicrs104894252GRCh37Chr 11, 2591945: 2591945
53KCNQ1NM_000218.2(KCNQ1): c.916G> A (p.Gly306Arg)single nucleotide variantPathogenicrs120074181GRCh37Chr 11, 2594211: 2594211
54KCNQ1NM_000218.2(KCNQ1): c.935C> T (p.Thr312Ile)single nucleotide variantPathogenicrs120074182GRCh37Chr 11, 2604678: 2604678
55KCNQ1NM_000218.2(KCNQ1): c.569G> A (p.Arg190Gln)single nucleotide variantPathogenicrs120074178GRCh37Chr 11, 2591949: 2591949
56KCNQ1NM_000218.2(KCNQ1): c.760G> A (p.Val254Met)single nucleotide variantPathogenicrs120074179GRCh37Chr 11, 2593319: 2593319
57KCNQ1NM_000218.2(KCNQ1): c.817C> T (p.Leu273Phe)single nucleotide variantPathogenicrs120074180GRCh37Chr 11, 2594112: 2594112
58KCNQ1NM_000218.2(KCNQ1): c.1022C> A (p.Ala341Glu)single nucleotide variantPathogenicrs12720459GRCh37Chr 11, 2604765: 2604765
59KCNQ1NM_000218.2(KCNQ1): c.1034G> A (p.Gly345Glu)single nucleotide variantPathogenicrs120074183GRCh37Chr 11, 2606443: 2606443
60KCNQ1NM_000218.2(KCNQ1): c.940G> A (p.Gly314Ser)single nucleotide variantPathogenicrs120074184GRCh37Chr 11, 2604683: 2604683
61KCNQ1NM_000218.2(KCNQ1): c.1663C> T (p.Arg555Cys)single nucleotide variantPathogenicrs120074185GRCh37Chr 11, 2797262: 2797262
62KCNQ1NM_000218.2(KCNQ1): c.914G> C (p.Trp305Ser)single nucleotide variantPathogenicrs120074186GRCh37Chr 11, 2594209: 2594209
63KCNQ1NM_000218.2(KCNQ1): c.1573G> A (p.Ala525Thr)single nucleotide variantPathogenicrs120074188GRCh37Chr 11, 2790132: 2790132
64KCNQ1NM_000218.2(KCNQ1): c.1760C> T (p.Thr587Met)single nucleotide variantPathogenicrs120074189GRCh37Chr 11, 2799233: 2799233
65KCNQ1KCNQ1, IVS1undetermined variantPathogenic
66KCNQ1NM_000218.2(KCNQ1): c.1766G> A (p.Gly589Asp)single nucleotide variantPathogenicrs120074190GRCh37Chr 11, 2799239: 2799239
67KCNQ1NM_000218.2(KCNQ1): c.350C> T (p.Pro117Leu)single nucleotide variantPathogenicrs120074191GRCh37Chr 11, 2466678: 2466678
68KCNQ1NM_000218.2(KCNQ1): c.1747C> T (p.Arg583Cys)single nucleotide variantPathogenic, risk factorrs17221854GRCh37Chr 11, 2799220: 2799220
69KCNQ1NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser)single nucleotide variantPathogenicrs120074193GRCh37Chr 11, 2594100: 2594100
70KCNQ1NM_000218.2(KCNQ1): c.806G> A (p.Gly269Asp)single nucleotide variantPathogenicrs120074194GRCh37Chr 11, 2594101: 2594101
71KCNQ1NM_000218.2(KCNQ1): c.760G> A (p.Val254Met)single nucleotide variantPathogenicrs120074179GRCh37Chr 11, 2593319: 2593319
72KCNQ1NM_000218.2(KCNQ1): c.728G> C (p.Arg243Pro)single nucleotide variantPathogenicrs120074196GRCh37Chr 11, 2593287: 2593287
73KCNQ1NM_000218.2(KCNQ1): c.905C> T (p.Ala302Val)single nucleotide variantLikely pathogenic, Pathogenicrs193922365GRCh37Chr 11, 2594200: 2594200
74KCNQ1NM_000218.2(KCNQ1): c.613G> A (p.Val205Met)single nucleotide variantPathogenicrs151344631GRCh37Chr 11, 2592563: 2592563
75SCN5ANM_000335.4(SCN5A): c.665G> A (p.Arg222Gln)single nucleotide variantLikely pathogenic, Pathogenicrs45546039GRCh37Chr 3, 38655272: 38655272
76SCN5ANM_000335.4(SCN5A): c.1943C> T (p.Pro648Leu)single nucleotide variantPathogenicrs45609733GRCh37Chr 3, 38640489: 38640489
77SCN5ANM_000335.4(SCN5A): c.2314G> A (p.Asp772Asn)single nucleotide variantPathogenicrs199473157GRCh37Chr 3, 38629013: 38629013
78KCNQ1NM_000218.2(KCNQ1): c.1013C> T (p.Ser338Phe)single nucleotide variantPathogenicrs199472758GRCh37Chr 11, 2604756: 2604756
79KCNQ1NM_000218.2(KCNQ1): c.1016T> C (p.Phe339Ser)single nucleotide variantPathogenicrs199472759GRCh37Chr 11, 2604759: 2604759
80KCNQ1NM_000218.2(KCNQ1): c.1024C> T (p.Leu342Phe)single nucleotide variantPathogenicrs199472760GRCh37Chr 11, 2604767: 2604767
81KCNQ1NM_000218.2(KCNQ1): c.1027C> T (p.Pro343Ser)single nucleotide variantPathogenicrs199472762GRCh37Chr 11, 2604770: 2604770
82KCNQ1NM_000218.2(KCNQ1): c.1028C> G (p.Pro343Arg)single nucleotide variantPathogenicrs199472761GRCh37Chr 11, 2604771: 2604771
83KCNQ1NM_000218.2(KCNQ1): c.1028C> T (p.Pro343Leu)single nucleotide variantPathogenicrs199472761GRCh37Chr 11, 2604771: 2604771
84KCNQ1NM_000218.2(KCNQ1): c.1031C> T (p.Ala344Val)single nucleotide variantPathogenicrs199472763GRCh37Chr 11, 2604774: 2604774
85KCNQ1NM_000218.2(KCNQ1): c.1033G> C (p.Gly345Arg)single nucleotide variantPathogenicrs199473471GRCh37Chr 11, 2606442: 2606442
86KCNQ1NM_000218.2(KCNQ1): c.1045T> C (p.Ser349Pro)single nucleotide variantPathogenicrs199472764GRCh37Chr 11, 2606454: 2606454
87KCNQ1NM_000218.2(KCNQ1): c.1046C> G (p.Ser349Trp)single nucleotide variantPathogenicrs199472765GRCh37Chr 11, 2606455: 2606455
88KCNQ1NM_000218.2(KCNQ1): c.1048G> C (p.Gly350Arg)single nucleotide variantPathogenicrs199472824GRCh37Chr 11, 2606457: 2606457
89KCNQ1NM_000218.2(KCNQ1): c.1052T> C (p.Phe351Ser)single nucleotide variantPathogenicrs199473402GRCh37Chr 11, 2606461: 2606461
90KCNQ1NM_000218.2(KCNQ1): c.1058T> C (p.Leu353Pro)single nucleotide variantPathogenicrs199473403GRCh37Chr 11, 2606467: 2606467
91KCNQ1NM_000218.2(KCNQ1): c.1070A> G (p.Gln357Arg)single nucleotide variantPathogenicrs199473405GRCh37Chr 11, 2606479: 2606479
92KCNQ1NM_000218.2(KCNQ1): c.1079G> C (p.Arg360Thr)single nucleotide variantPathogenicrs199473407GRCh37Chr 11, 2606488: 2606488
93KCNQ1NM_000218.2(KCNQ1): c.1085A> G (p.Lys362Arg)single nucleotide variantPathogenicrs12720458GRCh37Chr 11, 2606494: 2606494
94KCNQ1NM_000218.2(KCNQ1): c.1087C> A (p.His363Asn)single nucleotide variantPathogenicrs199473408GRCh37Chr 11, 2606496: 2606496
95KCNQ1NM_000218.2(KCNQ1): c.1096C> T (p.Arg366Trp)single nucleotide variantPathogenicrs199473411GRCh37Chr 11, 2606505: 2606505
96KCNQ1NM_000218.2(KCNQ1): c.1097G> A (p.Arg366Gln)single nucleotide variantPathogenicrs199473410GRCh37Chr 11, 2606506: 2606506
97KCNQ1NM_000218.2(KCNQ1): c.1097G> C (p.Arg366Pro)single nucleotide variantPathogenicrs199473410GRCh37Chr 11, 2606506: 2606506
98KCNQ1NM_000218.2(KCNQ1): c.1101G> T (p.Gln367His)single nucleotide variantPathogenicrs199473663GRCh37Chr 11, 2606510: 2606510
99KCNQ1NM_000218.2(KCNQ1): c.1111G> A (p.Ala371Thr)single nucleotide variantPathogenicrs199473412GRCh37Chr 11, 2606520: 2606520
100KCNQ1NM_000218.2(KCNQ1): c.1115C> A (p.Ala372Asp)single nucleotide variantPathogenicrs199473472GRCh37Chr 11, 2606524: 2606524
101KCNQ1NM_000218.2(KCNQ1): c.1121T> A (p.Leu374His)single nucleotide variantPathogenicrs199472767GRCh37Chr 11, 2606530: 2606530
102KCNQ1NM_000218.2(KCNQ1): c.1140G> T (p.Arg380Ser)single nucleotide variantPathogenicrs199472771GRCh37Chr 11, 2608811: 2608811
103KCNQ1NM_000218.2(KCNQ1): c.1166C> A (p.Ser389Tyr)single nucleotide variantPathogenicrs199472773GRCh37Chr 11, 2608837: 2608837
104KCNQ1NM_000218.2(KCNQ1): c.1172C> T (p.Thr391Ile)single nucleotide variantPathogenicrs199473474GRCh37Chr 11, 2608843: 2608843
105KCNQ1NM_000218.2(KCNQ1): c.1178A> T (p.Lys393Met)single nucleotide variantPathogenicrs199472775GRCh37Chr 11, 2608849: 2608849
106KCNQ1NM_000218.2(KCNQ1): c.1189C> T (p.Arg397Trp)single nucleotide variantLikely pathogenicrs199472776GRCh37Chr 11, 2608860: 2608860
107KCNQ1NM_000218.2(KCNQ1): c.1354C> T (p.Arg452Trp)single nucleotide variantPathogenicrs140452381GRCh37Chr 11, 2610045: 2610045
108KCNQ1NM_000218.2(KCNQ1): c.1363C> T (p.His455Tyr)single nucleotide variantPathogenicrs199473476GRCh37Chr 11, 2610054: 2610054
109KCNQ1NM_000218.2(KCNQ1): c.136G> A (p.Ala46Thr)single nucleotide variantPathogenicrs199473671GRCh37Chr 11, 2466464: 2466464
110KCNQ1NM_000218.2(KCNQ1): c.1541T> C (p.Ile514Thr)single nucleotide variantPathogenicrs199472786GRCh37Chr 11, 2790100: 2790100
111KCNQ1NM_000218.2(KCNQ1): c.1552C> G (p.Arg518Gly)single nucleotide variantPathogenicrs17215500GRCh37Chr 11, 2790111: 2790111
112KCNQ1NM_000218.2(KCNQ1): c.1553G> C (p.Arg518Pro)single nucleotide variantPathogenicrs145974930GRCh37Chr 11, 2790112: 2790112
113KCNQ1NM_000218.2(KCNQ1): c.1559T> G (p.Met520Arg)single nucleotide variantPathogenicrs199473479GRCh37Chr 11, 2790118: 2790118
114KCNQ1NM_000218.2(KCNQ1): c.1571T> G (p.Val524Gly)single nucleotide variantPathogenicrs199472790GRCh37Chr 11, 2790130: 2790130
115KCNQ1NM_000218.2(KCNQ1): c.1576A> G (p.Lys526Glu)single nucleotide variantPathogenicrs199472792GRCh37Chr 11, 2790135: 2790135
116KCNQ1NM_000218.2(KCNQ1): c.1615C> T (p.Arg539Trp)single nucleotide variantPathogenicrs199472795GRCh37Chr 11, 2797214: 2797214
117KCNQ1NM_000218.2(KCNQ1): c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs)indelPathogenicrs397515637GRCh37Chr 11, 2797229: 2797235
118KCNQ1NM_000218.2(KCNQ1): c.1637C> T (p.Ser546Leu)single nucleotide variantPathogenicrs199473480GRCh37Chr 11, 2797236: 2797236
119KCNQ1NM_000218.2(KCNQ1): c.1643G> A (p.Gly548Asp)single nucleotide variantPathogenicrs199472799GRCh37Chr 11, 2797242: 2797242
120KCNQ1NM_000218.2(KCNQ1): c.1661T> C (p.Val554Ala)single nucleotide variantPathogenicrs199473481GRCh37Chr 11, 2797260: 2797260
121KCNQ1NM_000218.2(KCNQ1): c.1664G> A (p.Arg555His)single nucleotide variantPathogenicrs199472800GRCh37Chr 11, 2797263: 2797263
122KCNQ1NM_000218.2(KCNQ1): c.1697C> A (p.Ser566Tyr)single nucleotide variantPathogenicrs199472804GRCh37Chr 11, 2798227: 2798227
123KCNQ1NM_000218.2(KCNQ1): c.1697C> T (p.Ser566Phe)single nucleotide variantPathogenicrs199472804GRCh37Chr 11, 2798227: 2798227
124KCNQ1NM_000218.2(KCNQ1): c.1700T> C (p.Ile567Thr)single nucleotide variantPathogenicrs199472805GRCh37Chr 11, 2798230: 2798230
125KCNQ1NM_000218.2(KCNQ1): c.1700T> G (p.Ile567Ser)single nucleotide variantPathogenicrs199472805GRCh37Chr 11, 2798230: 2798230
126KCNQ1NM_000218.2(KCNQ1): c.1702G> A (p.Gly568Arg)single nucleotide variantPathogenicrs199472807GRCh37Chr 11, 2798232: 2798232
127KCNQ1NM_000218.2(KCNQ1): c.1703G> C (p.Gly568Ala)single nucleotide variantPathogenicrs199472806GRCh37Chr 11, 2798233: 2798233
128KCNQ1NM_000218.2(KCNQ1): c.1719C> A (p.Phe573Leu)single nucleotide variantPathogenicrs199472810GRCh37Chr 11, 2798249: 2798249
129KCNQ1NM_000218.2(KCNQ1): c.1756A> G (p.Asn586Asp)single nucleotide variantPathogenicrs199472812GRCh37Chr 11, 2799229: 2799229
130KCNQ1NM_000218.2(KCNQ1): c.1768G> A (p.Ala590Thr)single nucleotide variantPathogenicrs199472813GRCh37Chr 11, 2799241: 2799241
131KCNQ1NM_000218.2(KCNQ1): c.1771C> T (p.Arg591Cys)single nucleotide variantLikely pathogenicrs199473483GRCh37Chr 11, 2799244: 2799244
132KCNQ1NM_000218.2(KCNQ1): c.1772G> A (p.Arg591His)single nucleotide variantPathogenicrs199472814GRCh37Chr 11, 2799245: 2799245
133KCNQ1NM_000218.2(KCNQ1): c.1781G> A (p.Arg594Gln)single nucleotide variantPathogenicrs199472815GRCh37Chr 11, 2799254: 2799254
134KCNQ1NM_000218.2(KCNQ1): c.1781G> C (p.Arg594Pro)single nucleotide variantPathogenicrs199472815GRCh37Chr 11, 2799254: 2799254
135KCNQ1NM_000218.2(KCNQ1): c.1855T> A (p.Leu619Met)single nucleotide variantPathogenicrs199472819GRCh37Chr 11, 2869057: 2869057
136KCNQ1NM_000218.2(KCNQ1): c.1876G> A (p.Gly626Ser)single nucleotide variantPathogenicrs199472821GRCh37Chr 11, 2869078: 2869078
137KCNQ1NM_000218.2(KCNQ1): c.1888C> G (p.Pro630Ala)single nucleotide variantPathogenicrs199472822GRCh37Chr 11, 2869090: 2869090
138KCNQ1NM_000218.2(KCNQ1): c.1892_1911del20 (p.Pro631Hisfs)deletionPathogenicrs397508103GRCh37Chr 11, 2869094: 2869113
139KCNQ1NM_000218.2(KCNQ1): c.19C> T (p.Pro7Ser)single nucleotide variantPathogenicrs199473443GRCh37Chr 11, 2466347: 2466347
140KCNQ1NM_000218.2(KCNQ1): c.217C> A (p.Pro73Thr)single nucleotide variantPathogenicrs199472676GRCh37Chr 11, 2466545: 2466545
141KCNQ1NM_000218.2(KCNQ1): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs199473485GRCh37Chr 11, 2466330: 2466330
142KCNQ1NM_000218.2(KCNQ1): c.332A> G (p.Tyr111Cys)single nucleotide variantPathogenicrs199472678GRCh37Chr 11, 2466660: 2466660
143KCNQ1NM_000218.2(KCNQ1): c.341T> C (p.Leu114Pro)single nucleotide variantPathogenicrs199473448GRCh37Chr 11, 2466669: 2466669
144KCNQ1NM_000218.2(KCNQ1): c.344A> G (p.Glu115Gly)single nucleotide variantPathogenicrs199472679GRCh37Chr 11, 2466672: 2466672
145KCNQ1NM_000218.2(KCNQ1): c.365G> A (p.Cys122Tyr)single nucleotide variantPathogenicrs199472681GRCh37Chr 11, 2466693: 2466693
146KCNQ1NM_000218.2(KCNQ1): c.394A> C (p.Ile132Leu)single nucleotide variantPathogenicrs199472684GRCh37Chr 11, 2549165: 2549165
147KCNQ1NM_000218.2(KCNQ1): c.407G> T (p.Cys136Phe)single nucleotide variantPathogenicrs199472686GRCh37Chr 11, 2549178: 2549178
148KCNQ1NM_000218.2(KCNQ1): c.409C> T (p.Leu137Phe)single nucleotide variantPathogenicrs199473450GRCh37Chr 11, 2549180: 2549180
149KCNQ1NM_000218.2(KCNQ1): c.436G> A (p.Glu146Lys)single nucleotide variantPathogenicrs199472688GRCh37Chr 11, 2549207: 2549207
150KCNQ1NM_000218.2(KCNQ1): c.449C> G (p.Ala150Gly)single nucleotide variantPathogenicrs199473452GRCh37Chr 11, 2549220: 2549220
151KCNQ1NM_000218.2(KCNQ1): c.451_452delCT (p.Leu151Glyfs)deletionPathogenicrs397508110GRCh37Chr 11, 2549222: 2549223
152KCNQ1NM_000218.2(KCNQ1): c.470T> G (p.Phe157Cys)single nucleotide variantPathogenicrs199472690GRCh37Chr 11, 2549241: 2549241
153KCNQ1NM_000218.2(KCNQ1): c.478G> A (p.Glu160Lys)single nucleotide variantPathogenicrs199473453GRCh37Chr 11, 2591858: 2591858
154KCNQ1NM_000218.2(KCNQ1): c.502G> A (p.Gly168Arg)single nucleotide variantPathogenicrs179489GRCh37Chr 11, 2591882: 2591882
155KCNQ1NM_000218.2(KCNQ1): c.502G> C (p.Gly168Arg)single nucleotide variantPathogenicrs179489GRCh37Chr 11, 2591882: 2591882
156KCNQ1NM_000218.2(KCNQ1): c.506C> G (p.Thr169Arg)single nucleotide variantPathogenicrs199472693GRCh37Chr 11, 2591886: 2591886
157KCNQ1NM_000218.2(KCNQ1): c.518T> A (p.Val173Asp)single nucleotide variantPathogenicrs199472695GRCh37Chr 11, 2591898: 2591898
158KCNQ1NM_000218.2(KCNQ1): c.520C> T (p.Arg174Cys)single nucleotide variantPathogenicrs199472696GRCh37Chr 11, 2591900: 2591900
159KCNQ1NM_000218.2(KCNQ1): c.521G> A (p.Arg174His)single nucleotide variantPathogenicrs199472697GRCh37Chr 11, 2591901: 2591901
160KCNQ1NM_000218.2(KCNQ1): c.521G> C (p.Arg174Pro)single nucleotide variantPathogenicrs199472697GRCh37Chr 11, 2591901: 2591901
161KCNQ1NM_000218.2(KCNQ1): c.532G> A (p.Ala178Thr)single nucleotide variantPathogenicrs120074177GRCh37Chr 11, 2591912: 2591912
162KCNQ1NM_000218.2(KCNQ1): c.535G> A (p.Gly179Ser)single nucleotide variantPathogenicrs199473394GRCh37Chr 11, 2591915: 2591915
163KCNQ1NM_000218.2(KCNQ1): c.551A> C (p.Tyr184Ser)single nucleotide variantPathogenicrs199473397GRCh37Chr 11, 2591931: 2591931
164KCNQ1NM_000218.2(KCNQ1): c.556G> C (p.Gly186Arg)single nucleotide variantPathogenicrs199473398GRCh37Chr 11, 2591936: 2591936
165KCNQ1NM_000218.2(KCNQ1): c.560T> C (p.Leu187Pro)single nucleotide variantPathogenicrs199473399GRCh37Chr 11, 2591940: 2591940
166KCNQ1NM_000218.2(KCNQ1): c.566G> A (p.Gly189Glu)single nucleotide variantLikely pathogenicrs199473400GRCh37Chr 11, 2591946: 2591946
167KCNQ1NM_000218.2(KCNQ1): c.567dupG (p.Arg190Alafs)duplicationPathogenicrs397508117GRCh37Chr 11, 2591947: 2591948
168KCNQ1NM_000218.2(KCNQ1): c.568C> T (p.Arg190Trp)single nucleotide variantPathogenicrs199473662GRCh37Chr 11, 2591948: 2591948
169KCNQ1NM_000218.2(KCNQ1): c.572T> C (p.Leu191Pro)single nucleotide variantPathogenicrs199473401GRCh37Chr 11, 2591952: 2591952
170KCNQ1NM_000218.2(KCNQ1): c.575G> C (p.Arg192Pro)single nucleotide variantPathogenicrs199472698GRCh37Chr 11, 2591955: 2591955
171KCNQ1NM_000218.2(KCNQ1): c.580G> C (p.Ala194Pro)single nucleotide variantPathogenicrs199472699GRCh37Chr 11, 2591960: 2591960
172KCNQ1NM_000218.2(KCNQ1): c.604G> A (p.Asp202Asn)single nucleotide variantPathogenicrs199472702GRCh37Chr 11, 2591984: 2591984
173KCNQ1NM_000218.2(KCNQ1): c.610A> T (p.Ile204Phe)single nucleotide variantPathogenicrs199472703GRCh37Chr 11, 2592560: 2592560
174KCNQ1NM_000218.2(KCNQ1): c.612C> G (p.Ile204Met)single nucleotide variantPathogenicrs199473455GRCh37Chr 11, 2592562: 2592562
175KCNQ1NM_000218.2(KCNQ1): c.626C> T (p.Ser209Phe)single nucleotide variantPathogenicrs199472704GRCh37Chr 11, 2592576: 2592576
176KCNQ1NM_000218.2(KCNQ1): c.643G> A (p.Val215Met)single nucleotide variantPathogenicrs17215479GRCh37Chr 11, 2592593: 2592593
177KCNQ1NM_000218.2(KCNQ1): c.674C> T (p.Ser225Leu)single nucleotide variantPathogenicrs199473456GRCh37Chr 11, 2592624: 2592624
178KCNQ1NM_000218.2(KCNQ1): c.686G> A (p.Gly229Asp)single nucleotide variantPathogenicrs199472708GRCh37Chr 11, 2593245: 2593245
179KCNQ1NM_000218.2(KCNQ1): c.691C> T (p.Arg231Cys)single nucleotide variantPathogenicrs199473457GRCh37Chr 11, 2593250: 2593250
180KCNQ1NM_000218.2(KCNQ1): c.692G> A (p.Arg231His)single nucleotide variantPathogenicrs199472709GRCh37Chr 11, 2593251: 2593251
181KCNQ1NM_000218.2(KCNQ1): c.704T> A (p.Ile235Asn)single nucleotide variantPathogenicrs199472710GRCh37Chr 11, 2593263: 2593263
182KCNQ1NM_000218.2(KCNQ1): c.716T> C (p.Leu239Pro)single nucleotide variantPathogenicrs199473458GRCh37Chr 11, 2593275: 2593275
183KCNQ1NM_000218.2(KCNQ1): c.724G> A (p.Asp242Asn)single nucleotide variantPathogenicrs199472712GRCh37Chr 11, 2593283: 2593283
184KCNQ1NM_000218.2(KCNQ1): c.727C> T (p.Arg243Cys)single nucleotide variantPathogenicrs199472713GRCh37Chr 11, 2593286: 2593286
185KCNQ1NM_000218.2(KCNQ1): c.728G> A (p.Arg243His)single nucleotide variantPathogenicrs120074196GRCh37Chr 11, 2593287: 2593287
186KCNQ1NM_000218.2(KCNQ1): c.749T> A (p.Leu250His)single nucleotide variantPathogenicrs199472715GRCh37Chr 11, 2593308: 2593308
187KCNQ1NM_000218.2(KCNQ1): c.752T> C (p.Leu251Pro)single nucleotide variantPathogenicrs199472716GRCh37Chr 11, 2593311: 2593311
188KCNQ1NM_000218.2(KCNQ1): c.760G> T (p.Val254Leu)single nucleotide variantPathogenicrs120074179GRCh37Chr 11, 2593319: 2593319
189KCNQ1NM_000218.2(KCNQ1): c.772C> A (p.His258Asn)single nucleotide variantPathogenicrs199472717GRCh37Chr 11, 2593331: 2593331
190KCNQ1NM_000218.2(KCNQ1): c.773A> G (p.His258Arg)single nucleotide variantPathogenicrs199472718GRCh37Chr 11, 2593332: 2593332
191KCNQ1NM_000218.2(KCNQ1): c.775C> T (p.Arg259Cys)single nucleotide variantPathogenicrs199472719GRCh37Chr 11, 2593334: 2593334
192KCNQ1NM_000218.2(KCNQ1): c.776G> A (p.Arg259His)single nucleotide variantPathogenicrs199472720GRCh37Chr 11, 2593335: 2593335
193KCNQ1NM_000218.2(KCNQ1): c.776G> T (p.Arg259Leu)single nucleotide variantPathogenicrs199472720GRCh37Chr 11, 2593335: 2593335
194KCNQ1NM_000218.2(KCNQ1): c.781G> A (p.Glu261Lys)single nucleotide variantPathogenicrs199472722GRCh37Chr 11, 2594076: 2594076
195KCNQ1NM_000218.2(KCNQ1): c.783G> C (p.Glu261Asp)single nucleotide variantPathogenicrs199472721GRCh37Chr 11, 2594078: 2594078
196KCNQ1NM_000218.2(KCNQ1): c.784C> G (p.Leu262Val)single nucleotide variantPathogenicrs199472723GRCh37Chr 11, 2594079: 2594079
197KCNQ1NM_000218.2(KCNQ1): c.794C> T (p.Thr265Ile)single nucleotide variantPathogenicrs199472724GRCh37Chr 11, 2594089: 2594089
198KCNQ1NM_000218.2(KCNQ1): c.797T> C (p.Leu266Pro)single nucleotide variantPathogenicrs199473460GRCh37Chr 11, 2594092: 2594092
199KCNQ1NM_000218.2(KCNQ1): c.815G> A (p.Gly272Asp)single nucleotide variantPathogenicrs199472726GRCh37Chr 11, 2594110: 2594110
200KCNQ1NM_000218.2(KCNQ1): c.818T> G (p.Leu273Arg)single nucleotide variantPathogenicrs199472727GRCh37Chr 11, 2594113: 2594113
201KCNQ1NM_000218.2(KCNQ1): c.824T> C (p.Phe275Ser)single nucleotide variantPathogenicrs199472729GRCh37Chr 11, 2594119: 2594119
202KCNQ1NM_000218.2(KCNQ1): c.830C> G (p.Ser277Trp)single nucleotide variantPathogenicrs199472730GRCh37Chr 11, 2594125: 2594125
203KCNQ1NM_000218.2(KCNQ1): c.830C> T (p.Ser277Leu)single nucleotide variantPathogenicrs199472730GRCh37Chr 11, 2594125: 2594125
204KCNQ1NM_000218.2(KCNQ1): c.839T> A (p.Val280Glu)single nucleotide variantPathogenicrs199473462GRCh37Chr 11, 2594134: 2594134
205KCNQ1NM_000218.2(KCNQ1): c.860C> A (p.Ala287Glu)single nucleotide variantPathogenicrs199472735GRCh37Chr 11, 2594155: 2594155
206KCNQ1NM_000218.2(KCNQ1): c.868G> A (p.Glu290Lys)single nucleotide variantPathogenicrs199473464GRCh37Chr 11, 2594163: 2594163
207KCNQ1NM_000218.2(KCNQ1): c.904G> A (p.Ala302Thr)single nucleotide variantPathogenicrs199472739GRCh37Chr 11, 2594199: 2594199
208KCNQ1NM_000218.2(KCNQ1): c.910T> C (p.Trp304Arg)single nucleotide variantPathogenicrs199473466GRCh37Chr 11, 2594205: 2594205
209KCNQ1NM_000218.2(KCNQ1): c.913T> C (p.Trp305Arg)single nucleotide variantPathogenicrs199472741GRCh37Chr 11, 2594208: 2594208
210KCNQ1NM_000218.2(KCNQ1): c.917G> T (p.Gly306Val)single nucleotide variantPathogenicrs199472742GRCh37Chr 11, 2594212: 2594212
211KCNQ1NM_000218.2(KCNQ1): c.923T> A (p.Val308Asp)single nucleotide variantPathogenicrs199473467GRCh37Chr 11, 2604666: 2604666
212KCNQ1NM_000218.2(KCNQ1): c.926C> G (p.Thr309Arg)single nucleotide variantPathogenicrs199472743GRCh37Chr 11, 2604669: 2604669
213KCNQ1NM_000218.2(KCNQ1): c.926C> T (p.Thr309Ile)single nucleotide variantPathogenicrs199472743GRCh37Chr 11, 2604669: 2604669
214KCNQ1NM_000218.2(KCNQ1): c.928G> A (p.Val310Ile)single nucleotide variantPathogenicrs199472745GRCh37Chr 11, 2604671: 2604671
215KCNQ1NM_000218.2(KCNQ1): c.932C> T (p.Thr311Ile)single nucleotide variantPathogenicrs199472746GRCh37Chr 11, 2604675: 2604675
216KCNQ1NM_000218.2(KCNQ1): c.939C> G (p.Ile313Met)single nucleotide variantPathogenicrs199472747GRCh37Chr 11, 2604682: 2604682
217KCNQ1NM_000218.2(KCNQ1): c.940G> C (p.Gly314Arg)single nucleotide variantPathogenicrs120074184GRCh37Chr 11, 2604683: 2604683
218KCNQ1NM_000218.2(KCNQ1): c.940G> T (p.Gly314Cys)single nucleotide variantPathogenicrs120074184GRCh37Chr 11, 2604683: 2604683
219KCNQ1NM_000218.2(KCNQ1): c.941G> A (p.Gly314Asp)single nucleotide variantPathogenicrs199472748GRCh37Chr 11, 2604684: 2604684
220KCNQ1NM_000218.2(KCNQ1): c.944A> C (p.Tyr315Ser)single nucleotide variantPathogenicrs74462309GRCh37Chr 11, 2604687: 2604687
221KCNQ1NM_000218.2(KCNQ1): c.944A> G (p.Tyr315Cys)single nucleotide variantPathogenicrs74462309GRCh37Chr 11, 2604687: 2604687
222KCNQ1NM_000218.2(KCNQ1): c.944A> T (p.Tyr315Phe)single nucleotide variantPathogenicrs74462309GRCh37Chr 11, 2604687: 2604687
223KCNQ1NM_000218.2(KCNQ1): c.946G> A (p.Gly316Arg)single nucleotide variantPathogenicrs104894255GRCh37Chr 11, 2604689: 2604689
224KCNQ1NM_000218.2(KCNQ1): c.946G> C (p.Gly316Arg)single nucleotide variantPathogenicrs104894255GRCh37Chr 11, 2604689: 2604689
225KCNQ1NM_000218.2(KCNQ1): c.947G> A (p.Gly316Glu)single nucleotide variantPathogenicrs199472749GRCh37Chr 11, 2604690: 2604690
226KCNQ1NM_000218.2(KCNQ1): c.949G> A (p.Asp317Asn)single nucleotide variantPathogenicrs199472751GRCh37Chr 11, 2604692: 2604692
227KCNQ1NM_000218.2(KCNQ1): c.954G> C (p.Lys318Asn)single nucleotide variantPathogenicrs199472752GRCh37Chr 11, 2604697: 2604697
228KCNQ1NM_000218.2(KCNQ1): c.958C> G (p.Pro320Ala)single nucleotide variantPathogenicrs199472753GRCh37Chr 11, 2604701: 2604701
229KCNQ1NM_000218.2(KCNQ1): c.959C> A (p.Pro320His)single nucleotide variantLikely pathogenicrs199473470GRCh37Chr 11, 2604702: 2604702
230KCNQ1NM_000218.2(KCNQ1): c.964A> G (p.Thr322Ala)single nucleotide variantPathogenicrs199472754GRCh37Chr 11, 2604707: 2604707
231KCNQ1NM_000218.2(KCNQ1): c.965C> A (p.Thr322Lys)single nucleotide variantPathogenicrs199472755GRCh37Chr 11, 2604708: 2604708
232KCNQ1NM_000218.2(KCNQ1): c.965C> T (p.Thr322Met)single nucleotide variantPathogenicrs199472755GRCh37Chr 11, 2604708: 2604708
233KCNQ1NM_000218.2(KCNQ1): c.973G> A (p.Gly325Arg)single nucleotide variantPathogenicrs199472756GRCh37Chr 11, 2604716: 2604716
234KCNE2NM_172201.1(KCNE2): c.161T> C (p.Met54Thr)single nucleotide variantPathogenicrs74315447GRCh37Chr 21, 35742938: 35742938
235KCNE2NM_172201.1(KCNE2): c.178T> C (p.Phe60Leu)single nucleotide variantPathogenicrs16991654GRCh37Chr 21, 35742955: 35742955
236KCNQ1NM_000218.2(KCNQ1): c.1016T> A (p.Phe339Tyr)single nucleotide variantPathogenicrs199472759GRCh37Chr 11, 2604759: 2604759
237KCNQ1NM_000218.2(KCNQ1): c.1022C> G (p.Ala341Gly)single nucleotide variantPathogenicrs12720459GRCh37Chr 11, 2604765: 2604765
238KCNQ1NM_000218.2(KCNQ1): c.1031C> A (p.Ala344Glu)single nucleotide variantPathogenicrs199472763GRCh37Chr 11, 2604774: 2604774
239KCNQ1NM_000218.2(KCNQ1): c.1048G> A (p.Gly350Arg)single nucleotide variantPathogenicrs199472824GRCh37Chr 11, 2606457: 2606457
240KCNQ1NM_000218.2(KCNQ1): c.1061A> G (p.Lys354Arg)single nucleotide variantPathogenicrs199473404GRCh37Chr 11, 2606470: 2606470
241KCNQ1NM_000218.2(KCNQ1): c.1078A> G (p.Arg360Gly)single nucleotide variantLikely pathogenicrs199473406GRCh37Chr 11, 2606487: 2606487
242KCNQ1NM_000218.2(KCNQ1): c.1079G> T (p.Arg360Met)single nucleotide variantPathogenicrs199473407GRCh37Chr 11, 2606488: 2606488
243KCNQ1NM_000218.2(KCNQ1): c.1093A> C (p.Asn365His)single nucleotide variantPathogenicrs199473409GRCh37Chr 11, 2606502: 2606502
244KCNQ1NM_000218.2(KCNQ1): c.1117T> C (p.Ser373Pro)single nucleotide variantPathogenicrs199472766GRCh37Chr 11, 2606526: 2606526
245KCNQ1NM_000218.2(KCNQ1): c.1135T> G (p.Trp379Gly)single nucleotide variantPathogenicrs199472768GRCh37Chr 11, 2608806: 2608806
246KCNQ1NM_000218.2(KCNQ1): c.1136G> C (p.Trp379Ser)single nucleotide variantPathogenicrs199472769GRCh37Chr 11, 2608807: 2608807
247KCNQ1NM_000218.2(KCNQ1): c.1138A> G (p.Arg380Gly)single nucleotide variantPathogenicrs199472770GRCh37Chr 11, 2608809: 2608809
248KCNQ1NM_000218.2(KCNQ1): c.1153G> A (p.Glu385Lys)single nucleotide variantPathogenicrs199473473GRCh37Chr 11, 2608824: 2608824
249KCNQ1NM_000218.2(KCNQ1): c.1165T> C (p.Ser389Pro)single nucleotide variantPathogenicrs199472772GRCh37Chr 11, 2608836: 2608836
250KCNQ1NM_000218.2(KCNQ1): c.1174T> C (p.Trp392Arg)single nucleotide variantPathogenicrs199472774GRCh37Chr 11, 2608845: 2608845
251KCNQ1NM_000218.2(KCNQ1): c.1193A> G (p.Lys398Arg)single nucleotide variantPathogenicrs199472777GRCh37Chr 11, 2608864: 2608864
252KCNQ1NM_000218.2(KCNQ1): c.1265A> C (p.Lys422Thr)single nucleotide variantPathogenicrs199472778GRCh37Chr 11, 2609956: 2609956
253KCNQ1NM_000218.2(KCNQ1): c.1338C> G (p.Asp446Glu)single nucleotide variantPathogenicrs199472780GRCh37Chr 11, 2610029: 2610029
254KCNQ1NM_000218.2(KCNQ1): c.1343C> T (p.Pro448Leu)single nucleotide variantPathogenicrs12720449GRCh37Chr 11, 2610034: 2610034
255KCNQ1NM_000218.2(KCNQ1): c.1351C> T (p.Arg451Trp)single nucleotide variantPathogenicrs199472782GRCh37Chr 11, 2610042: 2610042
256NM_000218.2(KCNQ1): c.1430C> T (p.Pro477Leu)single nucleotide variantPathogenicrs199472784GRCh37Chr 11, 2683227: 2683227
257KCNQ1NM_000218.2(KCNQ1): c.1531C> T (p.Arg511Trp)single nucleotide variantPathogenicrs199472785GRCh37Chr 11, 2790090: 2790090
258KCNQ1NM_000218.2(KCNQ1): c.1550T> C (p.Ile517Thr)single nucleotide variantPathogenicrs199473478GRCh37Chr 11, 2790109: 2790109
259KCNQ1NM_000218.2(KCNQ1): c.1553G> A (p.Arg518Gln)single nucleotide variantPathogenicrs145974930GRCh37Chr 11, 2790112: 2790112
260KCNQ1NM_000218.2(KCNQ1): c.1555C> T (p.Arg519Cys)single nucleotide variantPathogenicrs199472787GRCh37Chr 11, 2790114: 2790114
261KCNQ1NM_000218.2(KCNQ1): c.1565A> C (p.Tyr522Ser)single nucleotide variantPathogenicrs199472789GRCh37Chr 11, 2790124: 2790124
262KCNQ1NM_000218.2(KCNQ1): c.1574C> T (p.Ala525Val)single nucleotide variantPathogenicrs199472791GRCh37Chr 11, 2790133: 2790133
263KCNQ1NM_000218.2(KCNQ1): c.1597C> T (p.Arg533Trp)single nucleotide variantPathogenicrs199472793GRCh37Chr 11, 2797196: 2797196
264KCNQ1NM_000218.2(KCNQ1): c.1616G> A (p.Arg539Gln)single nucleotide variantPathogenicrs199472794GRCh37Chr 11, 2797215: 2797215
265KCNQ1NM_000218.2(KCNQ1): c.1621G> A (p.Val541Ile)single nucleotide variantPathogenicrs199472796GRCh37Chr 11, 2797220: 2797220
266KCNQ1NM_000218.2(KCNQ1): c.1627G> A (p.Glu543Lys)single nucleotide variantPathogenicrs199472797GRCh37Chr 11, 2797226: 2797226
267KCNQ1NM_000218.2(KCNQ1): c.1640A> G (p.Gln547Arg)single nucleotide variantPathogenicrs199472798GRCh37Chr 11, 2797239: 2797239
268KCNQ1NM_000218.2(KCNQ1): c.1663C> A (p.Arg555Ser)single nucleotide variantPathogenicrs120074185GRCh37Chr 11, 2797262: 2797262
269KCNQ1NM_000218.2(KCNQ1): c.1669A> G (p.Lys557Glu)single nucleotide variantPathogenicrs199472801GRCh37Chr 11, 2797268: 2797268
270KCNQ1NM_000218.2(KCNQ1): c.1685G> T (p.Arg562Met)single nucleotide variantPathogenicrs199472802GRCh37Chr 11, 2797284: 2797284
271KCNQ1NM_000218.2(KCNQ1): c.1696T> C (p.Ser566Pro)single nucleotide variantPathogenicrs199472803GRCh37Chr 11, 2798226: 2798226
272KCNQ1NM_000218.2(KCNQ1): c.1705A> G (p.Lys569Glu)single nucleotide variantPathogenicrs199472808GRCh37Chr 11, 2798235: 2798235
273KCNQ1NM_000218.2(KCNQ1): c.170G> T (p.Gly57Val)single nucleotide variantLikely pathogenicrs199473445GRCh37Chr 11, 2466498: 2466498
274KCNQ1NM_000218.2(KCNQ1): c.1712C> T (p.Ser571Leu)single nucleotide variantPathogenicrs199472809GRCh37Chr 11, 2798242: 2798242
275KCNQ1NM_000218.2(KCNQ1): c.1748G> A (p.Arg583His)single nucleotide variantPathogenicrs199473482GRCh37Chr 11, 2799221: 2799221
276KCNQ1NM_000218.2(KCNQ1): c.1786G> A (p.Glu596Lys)single nucleotide variantPathogenicrs199472816GRCh37Chr 11, 2799259: 2799259
277KCNQ1NM_000218.2(KCNQ1): c.1799C> T (p.Thr600Met)single nucleotide variantPathogenicrs34516117GRCh37Chr 11, 2869001: 2869001
278KCNQ1NM_000218.2(KCNQ1): c.1805T> C (p.Leu602Pro)single nucleotide variantPathogenicrs199472818GRCh37Chr 11, 2869007: 2869007
279KCNQ1NM_000218.2(KCNQ1): c.1831G> A (p.Asp611Asn)single nucleotide variantPathogenicrs147445322GRCh37Chr 11, 2869033: 2869033
280KCNQ1NM_000218.2(KCNQ1): c.1831G> T (p.Asp611Tyr)single nucleotide variantPathogenicrs147445322GRCh37Chr 11, 2869033: 2869033
281KCNQ1NM_000218.2(KCNQ1): c.1903G> A (p.Gly635Arg)single nucleotide variantPathogenicrs199473484GRCh37Chr 11, 2869105: 2869105
282KCNQ1NM_000218.2(KCNQ1): c.197C> T (p.Ser66Phe)single nucleotide variantPathogenicrs199473446GRCh37Chr 11, 2466525: 2466525
283KCNQ1NM_000218.2(KCNQ1): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenicrs199473441GRCh37Chr 11, 2466329: 2466329
284KCNQ1NM_000218.2(KCNQ1): c.314A> T (p.His105Leu)single nucleotide variantLikely pathogenicrs199473447GRCh37Chr 11, 2466642: 2466642
285KCNQ1NM_000218.2(KCNQ1): c.381C> A (p.Phe127Leu)single nucleotide variantPathogenicrs199472682GRCh37Chr 11, 2466709: 2466709
286KCNQ1NM_000218.2(KCNQ1): c.397G> A (p.Val133Ile)single nucleotide variantPathogenicrs199473449GRCh37Chr 11, 2549168: 2549168
287KCNQ1NM_000218.2(KCNQ1): c.401T> C (p.Leu134Pro)single nucleotide variantPathogenicrs199472685GRCh37Chr 11, 2549172: 2549172
288KCNQ1NM_000218.2(KCNQ1): c.430A> G (p.Thr144Ala)single nucleotide variantPathogenicrs199473451GRCh37Chr 11, 2549201: 2549201
289KCNQ1NM_000218.2(KCNQ1): c.479A> T (p.Glu160Val)single nucleotide variantPathogenicrs199472691GRCh37Chr 11, 2591859: 2591859
290KCNQ1NM_000218.2(KCNQ1): c.484G> A (p.Val162Met)single nucleotide variantPathogenicrs199472692GRCh37Chr 11, 2591864: 2591864
291KCNQ1NM_000218.2(KCNQ1): c.514G> A (p.Val172Met)single nucleotide variantPathogenicrs199472694GRCh37Chr 11, 2591894: 2591894
292KCNQ1NM_000218.2(KCNQ1): c.548A> G (p.Lys183Arg)single nucleotide variantPathogenicrs199473396GRCh37Chr 11, 2591928: 2591928
293KCNQ1NM_000218.2(KCNQ1): c.550T> C (p.Tyr184His)single nucleotide variantPathogenicrs199473661GRCh37Chr 11, 2591930: 2591930
294KCNQ1NM_000218.2(KCNQ1): c.556G> A (p.Gly186Ser)single nucleotide variantPathogenicrs199473398GRCh37Chr 11, 2591936: 2591936
295KCNQ1NM_000218.2(KCNQ1): c.565G> C (p.Gly189Arg)single nucleotide variantPathogenicrs104894252GRCh37Chr 11, 2591945: 2591945
296KCNQ1NM_000218.2(KCNQ1): c.569G> T (p.Arg190Leu)single nucleotide variantPathogenicrs120074178GRCh37Chr 11, 2591949: 2591949
297KCNQ1NM_000218.2(KCNQ1): c.575G> A (p.Arg192His)single nucleotide variantPathogenicrs199472698GRCh37Chr 11, 2591955: 2591955
298KCNQ1NM_000218.2(KCNQ1): c.583C> T (p.Arg195Trp)single nucleotide variantPathogenicrs150172393GRCh37Chr 11, 2591963: 2591963
299KCNQ1NM_000218.2(KCNQ1): c.592A> G (p.Ile198Val)single nucleotide variantPathogenicrs199472700GRCh37Chr 11, 2591972: 2591972
300KCNQ1NM_000218.2(KCNQ1): c.595T> G (p.Ser199Ala)single nucleotide variantPathogenicrs199472701GRCh37Chr 11, 2591975: 2591975
301KCNQ1NM_000218.2(KCNQ1): c.5C> T (p.Ala2Val)single nucleotide variantPathogenicrs199473442GRCh37Chr 11, 2466333: 2466333
302KCNQ1NM_000218.2(KCNQ1): c.604G> C (p.Asp202His)single nucleotide variantPathogenicrs199472702GRCh37Chr 11, 2591984: 2591984
303KCNQ1NM_000218.2(KCNQ1): c.608T> C (p.Leu203Pro)single nucleotide variantPathogenicrs199472823GRCh37Chr 11, 2592558: 2592558
304KCNQ1NM_000218.2(KCNQ1): c.671C> T (p.Thr224Met)single nucleotide variantPathogenicrs199472706GRCh37Chr 11, 2592621: 2592621
305KCNQ1NM_000218.2(KCNQ1): c.677C> T (p.Ala226Val)single nucleotide variantPathogenicrs199472707GRCh37Chr 11, 2592627: 2592627
306KCNQ1NM_000218.2(KCNQ1): c.722T> G (p.Val241Gly)single nucleotide variantPathogenicrs199472711GRCh37Chr 11, 2593281: 2593281
307KCNQ1NM_000218.2(KCNQ1): c.724G> T (p.Asp242Tyr)single nucleotide variantPathogenicrs199472712GRCh37Chr 11, 2593283: 2593283
308KCNQ1NM_000218.2(KCNQ1): c.727C> A (p.Arg243Ser)single nucleotide variantPathogenicrs199472713GRCh37Chr 11, 2593286: 2593286
309KCNQ1NM_000218.2(KCNQ1): c.742T> C (p.Trp248Arg)single nucleotide variantPathogenicrs199473459GRCh37Chr 11, 2593301: 2593301
310KCNQ1NM_000218.2(KCNQ1): c.744G> C (p.Trp248Cys)single nucleotide variantPathogenicrs199472714GRCh37Chr 11, 2593303: 2593303
311KCNQ1NM_000218.2(KCNQ1): c.749T> C (p.Leu250Pro)single nucleotide variantPathogenicrs199472715GRCh37Chr 11, 2593308: 2593308
312KCNQ1NM_000218.2(KCNQ1): c.760G> C (p.Val254Leu)single nucleotide variantPathogenicrs120074179GRCh37Chr 11, 2593319: 2593319
313KCNQ1NM_000218.2(KCNQ1): c.773A> C (p.His258Pro)single nucleotide variantPathogenicrs199472718GRCh37Chr 11, 2593332: 2593332
314KCNQ1NM_000218.2(KCNQ1): c.781G> C (p.Glu261Gln)single nucleotide variantPathogenicrs199472722GRCh37Chr 11, 2594076: 2594076
315KCNQ1NM_000218.2(KCNQ1): c.803T> G (p.Ile268Ser)single nucleotide variantPathogenicrs199472725GRCh37Chr 11, 2594098: 2594098
316KCNQ1NM_000218.2(KCNQ1): c.815G> T (p.Gly272Val)single nucleotide variantPathogenicrs199472726GRCh37Chr 11, 2594110: 2594110
317KCNQ1NM_000218.2(KCNQ1): c.820A> G (p.Ile274Val)single nucleotide variantPathogenicrs199472728GRCh37Chr 11, 2594115: 2594115
318KCNQ1NM_000218.2(KCNQ1): c.829T> C (p.Ser277Pro)single nucleotide variantPathogenicrs199473461GRCh37Chr 11, 2594124: 2594124
319KCNQ1NM_000218.2(KCNQ1): c.832T> C (p.Tyr278His)single nucleotide variantPathogenicrs199472731GRCh37Chr 11, 2594127: 2594127
320KCNQ1NM_000218.2(KCNQ1): c.842A> G (p.Tyr281Cys)single nucleotide variantPathogenicrs199472732GRCh37Chr 11, 2594137: 2594137
321KCNQ1NM_000218.2(KCNQ1): c.845T> C (p.Leu282Pro)single nucleotide variantPathogenicrs199472733GRCh37Chr 11, 2594140: 2594140
322KCNQ1NM_000218.2(KCNQ1): c.848C> G (p.Ala283Gly)single nucleotide variantPathogenicrs199473463GRCh37Chr 11, 2594143: 2594143
323KCNQ1NM_000218.2(KCNQ1): c.850G> A (p.Glu284Lys)single nucleotide variantPathogenicrs199472734GRCh37Chr 11, 2594145: 2594145
324KCNQ1NM_000218.2(KCNQ1): c.875G> A (p.Gly292Asp)single nucleotide variantPathogenicrs199472736GRCh37Chr 11, 2594170: 2594170
325KCNQ1NM_000218.2(KCNQ1): c.877C> T (p.Arg293Cys)single nucleotide variantPathogenicrs199472737GRCh37Chr 11, 2594172: 2594172
326KCNQ1NM_000218.2(KCNQ1): c.887T> C (p.Phe296Ser)single nucleotide variantLikely pathogenicrs199472738GRCh37Chr 11, 2594182: 2594182
327KCNQ1NM_000218.2(KCNQ1): c.905C> A (p.Ala302Glu)single nucleotide variantPathogenicrs193922365GRCh37Chr 11, 2594200: 2594200
328KCNQ1NM_000218.2(KCNQ1): c.908T> C (p.Leu303Pro)single nucleotide variantPathogenicrs199472740GRCh37Chr 11, 2594203: 2594203
329KCNQ1NM_000218.2(KCNQ1): c.916G> C (p.Gly306Arg)single nucleotide variantPathogenicrs120074181GRCh37Chr 11, 2594211: 2594211
330KCNQ1NM_000218.2(KCNQ1): c.929T> A (p.Val310Asp)single nucleotide variantPathogenicrs199472744GRCh37Chr 11, 2604672: 2604672
331KCNQ1NM_000218.2(KCNQ1): c.931A> G (p.Thr311Ala)single nucleotide variantPathogenicrs199473469GRCh37Chr 11, 2604674: 2604674
332KCNQ1NM_000218.2(KCNQ1): c.941G> C (p.Gly314Ala)single nucleotide variantPathogenicrs199472748GRCh37Chr 11, 2604684: 2604684
333KCNQ1NM_000218.2(KCNQ1): c.947G> T (p.Gly316Val)single nucleotide variantPathogenicrs199472749GRCh37Chr 11, 2604690: 2604690
334KCNQ1NM_000218.2(KCNQ1): c.949G> T (p.Asp317Tyr)single nucleotide variantPathogenicrs199472751GRCh37Chr 11, 2604692: 2604692
335KCNQ1NM_000218.2(KCNQ1): c.950A> G (p.Asp317Gly)single nucleotide variantPathogenicrs199472750GRCh37Chr 11, 2604693: 2604693
336KCNQ1NM_000218.2(KCNQ1): c.958C> T (p.Pro320Ser)single nucleotide variantPathogenicrs199472753GRCh37Chr 11, 2604701: 2604701
337KCNH2NM_000238.3(KCNH2): c.1001C> T (p.Pro334Leu)single nucleotide variantPathogenicrs199472888GRCh37Chr 7, 150654506: 150654506
338KCNH2NM_000238.3(KCNH2): c.1199T> A (p.Ile400Asn)single nucleotide variantPathogenicrs199472891GRCh37Chr 7, 150649871: 150649871
339KCNH2NM_000238.3(KCNH2): c.1205A> G (p.His402Arg)single nucleotide variantPathogenicrs199473506GRCh37Chr 7, 150649865: 150649865
340KCNH2NM_000238.3(KCNH2): c.121G> T (p.Val41Phe)single nucleotide variantPathogenicrs199472835GRCh37Chr 7, 150671985: 150671985
341KCNH2NM_000238.3(KCNH2): c.1229G> C (p.Trp410Ser)single nucleotide variantPathogenicrs199472892GRCh37Chr 7, 150649841: 150649841
342KCNH2NM_000238.3(KCNH2): c.122T> C (p.Val41Ala)single nucleotide variantPathogenicrs731506GRCh37Chr 7, 150671984: 150671984
343KCNH2NM_000238.3(KCNH2): c.1238T> C (p.Leu413Pro)single nucleotide variantPathogenicrs199472893GRCh37Chr 7, 150649832: 150649832
344KCNH2NM_000238.3(KCNH2): c.1259A> G (p.Tyr420Cys)single nucleotide variantPathogenicrs199473507GRCh37Chr 7, 150649811: 150649811
345KCNH2NM_000238.3(KCNH2): c.125T> A (p.Ile42Asn)single nucleotide variantPathogenicrs199473488GRCh37Chr 7, 150671981: 150671981
346KCNH2NM_000238.3(KCNH2): c.1262C> T (p.Thr421Met)single nucleotide variantPathogenicrs199472894GRCh37Chr 7, 150649808: 150649808
347KCNH2NM_000238.3(KCNH2): c.1264G> A (p.Ala422Thr)single nucleotide variantPathogenicrs199472895GRCh37Chr 7, 150649806: 150649806
348KCNH2NM_000238.3(KCNH2): c.1277C> A (p.Pro426His)single nucleotide variantPathogenicrs199472896GRCh37Chr 7, 150649793: 150649793
349KCNH2NM_000238.3(KCNH2): c.1279T> C (p.Tyr427His)single nucleotide variantPathogenicrs199472898GRCh37Chr 7, 150649791: 150649791
350KCNH2NM_000238.3(KCNH2): c.127T> G (p.Tyr43Asp)single nucleotide variantPathogenicrs199472837GRCh37Chr 7, 150671979: 150671979
351KCNH2NM_000238.3(KCNH2): c.1280A> C (p.Tyr427Ser)single nucleotide variantPathogenicrs199472897GRCh37Chr 7, 150649790: 150649790
352KCNH2NM_000238.3(KCNH2): c.1280A> G (p.Tyr427Cys)single nucleotide variantPathogenicrs199472897GRCh37Chr 7, 150649790: 150649790
353KCNH2NM_000238.3(KCNH2): c.1283C> T (p.Ser428Leu)single nucleotide variantPathogenicrs199472899GRCh37Chr 7, 150649787: 150649787
354KCNH2NM_000238.3(KCNH2): c.1285G> C (p.Ala429Pro)single nucleotide variantPathogenicrs199473508GRCh37Chr 7, 150649785: 150649785
355KCNH2NM_000238.3(KCNH2): c.128A> G (p.Tyr43Cys)single nucleotide variantPathogenicrs199472836GRCh37Chr 7, 150671978: 150671978
356KCNH2NM_000238.3(KCNH2): c.1293C> A (p.Phe431Leu)single nucleotide variantPathogenicrs199472900GRCh37Chr 7, 150649777: 150649777
357KCNH2NM_000238.3(KCNH2): c.1307C> T (p.Thr436Met)single nucleotide variantPathogenicrs199472901GRCh37Chr 7, 150649763: 150649763
358KCNH2NM_000238.3(KCNH2): c.1319C> T (p.Pro440Leu)single nucleotide variantPathogenicrs199473509GRCh37Chr 7, 150649751: 150649751
359KCNH2NM_000238.3(KCNH2): c.131G> T (p.Cys44Phe)single nucleotide variantPathogenicrs199473489GRCh37Chr 7, 150671975: 150671975
360KCNH2NM_000238.3(KCNH2): c.132C> G (p.Cys44Trp)single nucleotide variantPathogenicrs199472838GRCh37Chr 7, 150671974: 150671974
361KCNH2NM_000238.3(KCNH2): c.133A> T (p.Asn45Tyr)single nucleotide variantPathogenicrs199472839GRCh37Chr 7, 150671973: 150671973
362KCNH2NM_000238.3(KCNH2): c.1352C> T (p.Pro451Leu)single nucleotide variantPathogenicrs199472902GRCh37Chr 7, 150649718: 150649718
363KCNH2NM_000238.3(KCNH2): c.1366G> T (p.Asp456Tyr)single nucleotide variantPathogenicrs199473510GRCh37Chr 7, 150649704: 150649704
364KCNH2NM_000238.3(KCNH2): c.1378G> T (p.Asp460Tyr)single nucleotide variantPathogenicrs199472903GRCh37Chr 7, 150649692: 150649692
365KCNH2NM_000238.3(KCNH2): c.1387T> C (p.Phe463Leu)single nucleotide variantPathogenicrs199472904GRCh37Chr 7, 150649683: 150649683
366KCNH2NM_000238.3(KCNH2): c.1396G> T (p.Asp466Tyr)single nucleotide variantPathogenicrs199473511GRCh37Chr 7, 150649674: 150649674
367KCNH2NM_000238.3(KCNH2): c.140G> T (p.Gly47Val)single nucleotide variantPathogenicrs199473490GRCh37Chr 7, 150671966: 150671966
368KCNH2NM_000238.3(KCNH2): c.1417A> C (p.Thr473Pro)single nucleotide variantPathogenicrs199473512GRCh37Chr 7, 150649653: 150649653
369KCNH2NM_000238.3(KCNH2): c.1418C> A (p.Thr473Asn)single nucleotide variantPathogenicrs199472905GRCh37Chr 7, 150649652: 150649652
370KCNH2NM_000238.3(KCNH2): c.1421C> T (p.Thr474Ile)single nucleotide variantPathogenicrs199472906GRCh37Chr 7, 150649649: 150649649
371KCNH2NM_000238.3(KCNH2): c.1424A> G (p.Tyr475Cys)single nucleotide variantPathogenicrs199472907GRCh37Chr 7, 150649646: 150649646
372KCNH2NM_000238.3(KCNH2): c.1426G> A (p.Val476Ile)single nucleotide variantPathogenicrs199472908GRCh37Chr 7, 150649644: 150649644
373KCNH2NM_000238.3(KCNH2): c.1465A> T (p.Ile489Phe)single nucleotide variantPathogenicrs199472909GRCh37Chr 7, 150649605: 150649605
374KCNH2NM_000238.3(KCNH2): c.1468G> C (p.Ala490Pro)single nucleotide variantPathogenicrs28928905GRCh37Chr 7, 150649602: 150649602
375KCNH2NM_000238.3(KCNH2): c.146G> A (p.Cys49Tyr)single nucleotide variantPathogenicrs199472840GRCh37Chr 7, 150671960: 150671960
376KCNH2NM_000238.3(KCNH2): c.1474C> T (p.His492Tyr)single nucleotide variantPathogenicrs199472910GRCh37Chr 7, 150649596: 150649596
377KCNH2NM_000238.3(KCNH2): c.1478A> C (p.Tyr493Ser)single nucleotide variantPathogenicrs199472911GRCh37Chr 7, 150649592: 150649592
378KCNH2NM_000238.3(KCNH2): c.1478A> G (p.Tyr493Cys)single nucleotide variantPathogenicrs199472911GRCh37Chr 7, 150649592: 150649592
379KCNH2NM_000238.3(KCNH2): c.1478A> T (p.Tyr493Phe)single nucleotide variantPathogenicrs199472911GRCh37Chr 7, 150649592: 150649592
380KCNH2NM_000238.3(KCNH2): c.1501G> A (p.Asp501Asn)single nucleotide variantPathogenicrs199472912GRCh37Chr 7, 150649569: 150649569
381KCNH2NM_000238.3(KCNH2): c.1501G> C (p.Asp501His)single nucleotide variantPathogenicrs199472912GRCh37Chr 7, 150649569: 150649569
382KCNH2NM_000238.3(KCNH2): c.1502A> G (p.Asp501Gly)single nucleotide variantPathogenicrs199473513GRCh37Chr 7, 150649568: 150649568
383KCNH2NM_000238.3(KCNH2): c.1564G> A (p.Gly522Arg)single nucleotide variantPathogenicrs199473514GRCh37Chr 7, 150648917: 150648917
384KCNH2NM_000238.3(KCNH2): c.1575G> T (p.Lys525Asn)single nucleotide variantPathogenicrs199472913GRCh37Chr 7, 150648906: 150648906
385KCNH2NM_000238.3(KCNH2): c.157G> A (p.Gly53Ser)single nucleotide variantPathogenicrs199472842GRCh37Chr 7, 150671949: 150671949
386KCNH2NM_000238.3(KCNH2): c.157G> C (p.Gly53Arg)single nucleotide variantPathogenicrs199472842GRCh37Chr 7, 150671949: 150671949
387KCNH2NM_000238.3(KCNH2): c.1583G> C (p.Arg528Pro)single nucleotide variantPathogenicrs199472914GRCh37Chr 7, 150648898: 150648898
388KCNH2NM_000238.3(KCNH2): c.158G> A (p.Gly53Asp)single nucleotide variantPathogenicrs199473491GRCh37Chr 7, 150671948: 150671948
389KCNH2NM_000238.3(KCNH2): c.1591C> T (p.Arg531Trp)single nucleotide variantPathogenicrs199472915GRCh37Chr 7, 150648890: 150648890
390KCNH2NM_000238.3(KCNH2): c.1592G> A (p.Arg531Gln)single nucleotide variantPathogenicrs199473515GRCh37Chr 7, 150648889: 150648889
391KCNH2NM_000238.3(KCNH2): c.1600C> T (p.Arg534Cys)single nucleotide variantPathogenicrs199472916GRCh37Chr 7, 150648881: 150648881
392KCNH2NM_000238.3(KCNH2): c.1601G> T (p.Arg534Leu)single nucleotide variantPathogenicrs199473516GRCh37Chr 7, 150648880: 150648880
393KCNH2NM_000238.3(KCNH2): c.1609C> T (p.Arg537Trp)single nucleotide variantPathogenicrs199472917GRCh37Chr 7, 150648872: 150648872
394KCNH2NM_000238.3(KCNH2): c.160T> C (p.Tyr54His)single nucleotide variantPathogenicrs199472843GRCh37Chr 7, 150671946: 150671946
395KCNH2NM_000238.3(KCNH2): c.164C> T (p.Ser55Leu)single nucleotide variantPathogenicrs199472844GRCh37Chr 7, 150671942: 150671942
396KCNH2NM_000238.3(KCNH2): c.1655T> C (p.Leu552Ser)single nucleotide variantPathogenicrs199472918GRCh37Chr 7, 150648826: 150648826
397KCNH2NM_000238.3(KCNH2): c.1673C> A (p.Ala558Glu)single nucleotide variantPathogenicrs199472919GRCh37Chr 7, 150648808: 150648808
398KCNH2NM_000238.3(KCNH2): c.1676T> A (p.Leu559His)single nucleotide variantPathogenicrs199472920GRCh37Chr 7, 150648805: 150648805
399KCNH2NM_000238.3(KCNH2): c.167G> A (p.Arg56Gln)single nucleotide variantPathogenicrs199472845GRCh37Chr 7, 150671939: 150671939
400KCNH2NM_000238.3(KCNH2): c.1681G> A (p.Ala561Thr)single nucleotide variantPathogenicrs199472921GRCh37Chr 7, 150648800: 150648800
401KCNH2NM_000238.3(KCNH2): c.1681G> C (p.Ala561Pro)single nucleotide variantPathogenicrs199472921GRCh37Chr 7, 150648800: 150648800
402KCNH2NM_000238.3(KCNH2): c.1685A> C (p.His562Pro)single nucleotide variantPathogenicrs199472922GRCh37Chr 7, 150648796: 150648796
403KCNH2NM_000238.3(KCNH2): c.1685A> G (p.His562Arg)single nucleotide variantPathogenicrs199472922GRCh37Chr 7, 150648796: 150648796
404KCNH2NM_000238.3(KCNH2): c.1687T> G (p.Trp563Gly)single nucleotide variantPathogenicrs199472923GRCh37Chr 7, 150648794: 150648794
405KCNH2NM_000238.3(KCNH2): c.1689G> T (p.Trp563Cys)single nucleotide variantPathogenicrs199473517GRCh37Chr 7, 150648792: 150648792
406KCNH2NM_000238.3(KCNH2): c.1691T> C (p.Leu564Pro)single nucleotide variantPathogenicrs199472924GRCh37Chr 7, 150648790: 150648790
407KCNH2NM_000238.3(KCNH2): c.1693G> A (p.Ala565Thr)single nucleotide variantPathogenicrs199473518GRCh37Chr 7, 150648788: 150648788
408KCNH2NM_000238.3(KCNH2): c.1696T> G (p.Cys566Gly)single nucleotide variantLikely pathogenicrs199473038GRCh37Chr 7, 150648785: 150648785
409KCNH2NM_000238.3(KCNH2): c.1697G> C (p.Cys566Ser)single nucleotide variantPathogenicrs199472925GRCh37Chr 7, 150648784: 150648784
410KCNH2NM_000238.3(KCNH2): c.1697G> T (p.Cys566Phe)single nucleotide variantPathogenicrs199472925GRCh37Chr 7, 150648784: 150648784
411KCNH2NM_000238.3(KCNH2): c.169G> C (p.Ala57Pro)single nucleotide variantPathogenicrs199472846GRCh37Chr 7, 150671937: 150671937
412KCNH2NM_000238.3(KCNH2): c.1700T> C (p.Ile567Thr)single nucleotide variantPathogenicrs199473519GRCh37Chr 7, 150648781: 150648781
413KCNH2NM_000238.3(KCNH2): c.1702T> C (p.Trp568Arg)single nucleotide variantPathogenicrs199472927GRCh37Chr 7, 150648779: 150648779
414KCNH2NM_000238.3(KCNH2): c.1704G> C (p.Trp568Cys)single nucleotide variantPathogenicrs199472926GRCh37Chr 7, 150648777: 150648777
415KCNH2NM_000238.3(KCNH2): c.1704G> T (p.Trp568Cys)single nucleotide variantPathogenicrs199472926GRCh37Chr 7, 150648777: 150648777
416KCNH2NM_000238.3(KCNH2): c.1705T> C (p.Tyr569His)single nucleotide variantPathogenicrs199473520GRCh37Chr 7, 150648776: 150648776
417KCNH2NM_000238.3(KCNH2): c.1711A> C (p.Ile571Leu)single nucleotide variantPathogenicrs199472928GRCh37Chr 7, 150648770: 150648770
418KCNH2NM_000238.3(KCNH2): c.1711A> G (p.Ile571Val)single nucleotide variantPathogenicrs199472928GRCh37Chr 7, 150648770: 150648770
419KCNH2NM_000238.3(KCNH2): c.1714G> A (p.Gly572Ser)single nucleotide variantPathogenicrs9333649GRCh37Chr 7, 150648767: 150648767
420KCNH2NM_000238.3(KCNH2): c.1714G> T (p.Gly572Cys)single nucleotide variantPathogenicrs9333649GRCh37Chr 7, 150648767: 150648767
421KCNH2NM_000238.3(KCNH2): c.1715G> A (p.Gly572Asp)single nucleotide variantPathogenicrs199473423GRCh37Chr 7, 150648766: 150648766
422KCNH2NM_000238.3(KCNH2): c.1715G> T (p.Gly572Val)single nucleotide variantPathogenicrs199473423GRCh37Chr 7, 150648766: 150648766
423KCNH2NM_000238.3(KCNH2): c.1720A> G (p.Met574Val)single nucleotide variantPathogenicrs199473667GRCh37Chr 7, 150648761: 150648761
424KCNH2NM_000238.3(KCNH2): c.1724A> G (p.Glu575Gly)single nucleotide variantPathogenicrs199473424GRCh37Chr 7, 150648757: 150648757
425KCNH2NM_000238.3(KCNH2): c.172G> A (p.Glu58Lys)single nucleotide variantPathogenicrs199473413GRCh37Chr 7, 150671934: 150671934
426KCNH2NM_000238.3(KCNH2): c.1736T> C (p.Met579Thr)single nucleotide variantPathogenicrs199473425GRCh37Chr 7, 150648745: 150648745
427KCNH2NM_000238.3(KCNH2): c.173A> C (p.Glu58Ala)single nucleotide variantPathogenicrs199472847GRCh37Chr 7, 150671933: 150671933
428KCNH2NM_000238.3(KCNH2): c.173A> G (p.Glu58Gly)single nucleotide variantPathogenicrs199472847GRCh37Chr 7, 150671933: 150671933
429KCNH2NM_000238.3(KCNH2): c.1745G> T (p.Arg582Leu)single nucleotide variantPathogenicrs199473426GRCh37Chr 7, 150648736: 150648736
430KCNH2NM_000238.3(KCNH2): c.1747A> G (p.Ile583Val)single nucleotide variantPathogenicrs199473427GRCh37Chr 7, 150648734: 150648734
431KCNH2NM_000238.3(KCNH2): c.174G> C (p.Glu58Asp)single nucleotide variantPathogenicrs199473492GRCh37Chr 7, 150671932: 150671932
432KCNH2NM_000238.3(KCNH2): c.1750G> A (p.Gly584Ser)single nucleotide variantPathogenicrs199473428GRCh37Chr 7, 150648731: 150648731
433KCNH2NM_000238.3(KCNH2): c.1750G> C (p.Gly584Arg)single nucleotide variantPathogenicrs199473428GRCh37Chr 7, 150648731: 150648731
434KCNH2NM_000238.3(KCNH2): c.1750G> T (p.Gly584Cys)single nucleotide variantPathogenicrs199473428GRCh37Chr 7, 150648731: 150648731
435KCNH2NM_000238.3(KCNH2): c.1751G> T (p.Gly584Val)single nucleotide variantPathogenicrs199473429GRCh37Chr 7, 150648730: 150648730
436KCNH2NM_000238.3(KCNH2): c.1755G> T (p.Trp585Cys)single nucleotide variantPathogenicrs199473430GRCh37Chr 7, 150648726: 150648726
437KCNH2NM_000238.3(KCNH2): c.1762A> G (p.Asn588Asp)single nucleotide variantPathogenicrs199473431GRCh37Chr 7, 150648719: 150648719
438KCNH2NM_000238.3(KCNH2): c.1769G> T (p.Gly590Val)single nucleotide variantPathogenicrs199472929GRCh37Chr 7, 150648712: 150648712
439KCNH2NM_000238.3(KCNH2): c.1777A> G (p.Ile593Val)single nucleotide variantPathogenicrs199472930GRCh37Chr 7, 150648704: 150648704
440KCNH2NM_000238.3(KCNH2): c.1778T> A (p.Ile593Lys)single nucleotide variantPathogenicrs28928904GRCh37Chr 7, 150648703: 150648703
441KCNH2NM_000238.3(KCNH2): c.1778T> C (p.Ile593Thr)single nucleotide variantPathogenicrs28928904GRCh37Chr 7, 150648703: 150648703
442KCNH2NM_000238.3(KCNH2): c.1781G> A (p.Gly594Asp)single nucleotide variantPathogenicrs199472931GRCh37Chr 7, 150648700: 150648700
443KCNH2NM_000238.3(KCNH2): c.1783A> G (p.Lys595Glu)single nucleotide variantPathogenicrs199472932GRCh38Chr 7, 150951610: 150951610
444KCNH2NM_000238.3(KCNH2): c.1785A> T (p.Lys595Asn)single nucleotide variantPathogenicrs199473521GRCh37Chr 7, 150648696: 150648696
445KCNH2NM_000238.3(KCNH2): c.1787C> A (p.Pro596His)single nucleotide variantPathogenicrs199472933GRCh37Chr 7, 150648694: 150648694
446KCNH2NM_000238.3(KCNH2): c.1787C> G (p.Pro596Arg)single nucleotide variantPathogenicrs199472933GRCh37Chr 7, 150648694: 150648694
447KCNH2NM_000238.3(KCNH2): c.1787C> T (p.Pro596Leu)single nucleotide variantPathogenicrs199472933GRCh37Chr 7, 150648694: 150648694
448KCNH2NM_000238.3(KCNH2): c.1790A> G (p.Tyr597Cys)single nucleotide variantPathogenicrs199472934GRCh37Chr 7, 150648691: 150648691
449KCNH2NM_000238.3(KCNH2): c.1797C> A (p.Ser599Arg)single nucleotide variantPathogenicrs199472935GRCh37Chr 7, 150648684: 150648684
450KCNH2NM_000238.3(KCNH2): c.1801G> A (p.Gly601Ser)single nucleotide variantPathogenicrs199472936GRCh37Chr 7, 150648680: 150648680
451KCNH2NM_000238.3(KCNH2): c.1801G> T (p.Gly601Cys)single nucleotide variantPathogenicrs199472936GRCh37Chr 7, 150648680: 150648680
452KCNH2NM_000238.3(KCNH2): c.1810G> A (p.Gly604Ser)single nucleotide variantPathogenicrs199473522GRCh37Chr 7, 150648671: 150648671
453KCNH2NM_000238.3(KCNH2): c.1811G> A (p.Gly604Asp)single nucleotide variantPathogenicrs199472937GRCh37Chr 7, 150648670: 150648670
454KCNH2NM_000238.3(KCNH2): c.1813C> T (p.Pro605Ser)single nucleotide variantPathogenicrs199472939GRCh37Chr 7, 150648668: 150648668
455KCNH2NM_000238.3(KCNH2): c.1814C> T (p.Pro605Leu)single nucleotide variantPathogenicrs199472938GRCh37Chr 7, 150648667: 150648667
456KCNH2NM_000238.3(KCNH2): c.1816T> C (p.Ser606Pro)single nucleotide variantPathogenicrs199473523GRCh37Chr 7, 150648665: 150648665
457KCNH2NM_000238.3(KCNH2): c.1825G> A (p.Asp609Asn)single nucleotide variantPathogenicrs199472941GRCh37Chr 7, 150648656: 150648656
458KCNH2NM_000238.3(KCNH2): c.1825G> C (p.Asp609His)single nucleotide variantPathogenicrs199472941GRCh37Chr 7, 150648656: 150648656
459KCNH2NM_000238.3(KCNH2): c.1825G> T (p.Asp609Tyr)single nucleotide variantPathogenicrs199472941GRCh37Chr 7, 150648656: 150648656
460KCNH2NM_000238.3(KCNH2): c.1826A> G (p.Asp609Gly)single nucleotide variantPathogenicrs199472940GRCh37Chr 7, 150648655: 150648655
461KCNH2NM_000238.3(KCNH2): c.1831T> G (p.Tyr611Asp)single nucleotide variantPathogenicrs199472942GRCh37Chr 7, 150648650: 150648650
462KCNH2NM_000238.3(KCNH2): c.1834G> T (p.Val612Leu)single nucleotide variantPathogenicrs199472943GRCh37Chr 7, 150648647: 150648647
463KCNH2NM_000238.3(KCNH2): c.1838C> T (p.Thr613Met)single nucleotide variantPathogenicrs199473524GRCh37Chr 7, 150648643: 150648643
464KCNH2NM_000238.3(KCNH2): c.1843C> G (p.Leu615Val)single nucleotide variantPathogenicrs199472945GRCh37Chr 7, 150648638: 150648638
465KCNH2NM_000238.3(KCNH2): c.1843C> T (p.Leu615Phe)single nucleotide variantPathogenicrs199472945GRCh37Chr 7, 150648638: 150648638
466KCNH2NM_000238.3(KCNH2): c.1847A> G (p.Tyr616Cys)single nucleotide variantPathogenicrs199472946GRCh37Chr 7, 150648634: 150648634
467KCNH2NM_000238.3(KCNH2): c.1853C> G (p.Thr618Ser)single nucleotide variantPathogenicrs199472947GRCh37Chr 7, 150648628: 150648628
468KCNH2NM_000238.3(KCNH2): c.185G> A (p.Arg62Gln)single nucleotide variantPathogenicrs199473664GRCh38Chr 7, 150974833: 150974833
469KCNH2NM_000238.3(KCNH2): c.1862G> A (p.Ser621Asn)single nucleotide variantPathogenicrs199472948GRCh37Chr 7, 150648619: 150648619
470KCNH2NM_000238.3(KCNH2): c.1863C> G (p.Ser621Arg)single nucleotide variantPathogenicrs199472949GRCh37Chr 7, 150648618: 150648618
471KCNH2NM_000238.3(KCNH2): c.1864C> T (p.Leu622Phe)single nucleotide variantPathogenicrs199473525GRCh37Chr 7, 150648617: 150648617
472KCNH2NM_000238.3(KCNH2): c.1868C> T (p.Thr623Ile)single nucleotide variantPathogenicrs199472950GRCh37Chr 7, 150648613: 150648613
473KCNH2NM_000238.3(KCNH2): c.1874T> A (p.Val625Glu)single nucleotide variantPathogenicrs199472951GRCh37Chr 7, 150648607: 150648607
474KCNH2NM_000238.3(KCNH2): c.1876G> A (p.Gly626Ser)single nucleotide variantPathogenicrs199472953GRCh37Chr 7, 150648605: 150648605
475KCNH2NM_000238.3(KCNH2): c.1877G> A (p.Gly626Asp)single nucleotide variantPathogenicrs199472952GRCh37Chr 7, 150648604: 150648604
476KCNH2NM_000238.3(KCNH2): c.1877G> C (p.Gly626Ala)single nucleotide variantPathogenicrs199472952GRCh37Chr 7, 150648604: 150648604
477KCNH2NM_000238.3(KCNH2): c.1877G> T (p.Gly626Val)single nucleotide variantPathogenicrs199472952GRCh37Chr 7, 150648604: 150648604
478KCNH2NM_000238.3(KCNH2): c.1879T> A (p.Phe627Ile)single nucleotide variantPathogenicrs199472954GRCh37Chr 7, 150648602: 150648602
479KCNH2NM_000238.3(KCNH2): c.1879T> C (p.Phe627Leu)single nucleotide variantPathogenicrs199472954GRCh37Chr 7, 150648602: 150648602
480KCNH2NM_000238.3(KCNH2): c.1881C> G (p.Phe627Leu)single nucleotide variantPathogenicrs199473039GRCh37Chr 7, 150648600: 150648600
481KCNH2NM_000238.3(KCNH2): c.1883G> C (p.Gly628Ala)single nucleotide variantPathogenicrs199472955GRCh37Chr 7, 150648598: 150648598
482KCNH2NM_000238.3(KCNH2): c.1883G> T (p.Gly628Val)single nucleotide variantPathogenicrs199472955GRCh37Chr 7, 150648598: 150648598
483KCNH2NM_000238.3(KCNH2): c.1885A> G (p.Asn629Asp)single nucleotide variantPathogenicrs199472956GRCh37Chr 7, 150648596: 150648596
484KCNH2NM_000238.3(KCNH2): c.1886A> C (p.Asn629Thr)single nucleotide variantPathogenicrs199472957GRCh37Chr 7, 150648595: 150648595
485KCNH2NM_000238.3(KCNH2): c.1886A> G (p.Asn629Ser)single nucleotide variantPathogenicrs199472957GRCh37Chr 7, 150648595: 150648595
486KCNH2NM_000238.3(KCNH2): c.1886A> T (p.Asn629Ile)single nucleotide variantPathogenicrs199472957GRCh37Chr 7, 150648595: 150648595
487KCNH2NM_000238.3(KCNH2): c.1887C> A (p.Asn629Lys)single nucleotide variantPathogenicrs41307295GRCh37Chr 7, 150648594: 150648594
488KCNH2NM_000238.3(KCNH2): c.1888G> C (p.Val630Leu)single nucleotide variantPathogenicrs199472958GRCh37Chr 7, 150648593: 150648593
489KCNH2NM_000238.3(KCNH2): c.1889T> C (p.Val630Ala)single nucleotide variantPathogenicrs199473526GRCh37Chr 7, 150648592: 150648592
490KCNH2NM_000238.3(KCNH2): c.1891T> G (p.Ser631Ala)single nucleotide variantPathogenicrs199472959GRCh37Chr 7, 150648590: 150648590
491KCNH2NM_000238.3(KCNH2): c.1894C> T (p.Pro632Ser)single nucleotide variantPathogenicrs199473527GRCh37Chr 7, 150648587: 150648587
492KCNH2NM_000238.3(KCNH2): c.1897A> G (p.Asn633Asp)single nucleotide variantPathogenicrs199472960GRCh37Chr 7, 150648584: 150648584
493KCNH2NM_000238.3(KCNH2): c.1898A> G (p.Asn633Ser)single nucleotide variantPathogenicrs199472961GRCh37Chr 7, 150648583: 150648583
494KCNH2NM_000238.3(KCNH2): c.1898A> T (p.Asn633Ile)single nucleotide variantPathogenicrs199472961GRCh37Chr 7, 150648583: 150648583
495KCNH2NM_000238.3(KCNH2): c.1901C> T (p.Thr634Ile)single nucleotide variantPathogenicrs199472962GRCh37Chr 7, 150648580: 150648580
496KCNH2NM_000238.3(KCNH2): c.1903A> G (p.Asn635Asp)single nucleotide variantPathogenicrs199472963GRCh37Chr 7, 150648578: 150648578
497KCNH2NM_000238.3(KCNH2): c.1904A> T (p.Asn635Ile)single nucleotide variantPathogenicrs199472964GRCh37Chr 7, 150648577: 150648577
498KCNH2NM_000238.3(KCNH2): c.1905C> G (p.Asn635Lys)single nucleotide variantPathogenicrs199472965GRCh37Chr 7, 150648576: 150648576
499KCNH2NM_000238.3(KCNH2): c.1909G> A (p.Glu637Lys)single nucleotide variantPathogenicrs199472968GRCh37Chr 7, 150648572: 150648572
500KCNH2NM_000238.3(KCNH2): c.1910A> G (p.Glu637Gly)single nucleotide variantPathogenicrs199472967GRCh37Chr 7, 150648571: 150648571
501KCNH2NM_000238.3(KCNH2): c.1911G> C (p.Glu637Asp)single nucleotide variantPathogenicrs199472966GRCh37Chr 7, 150648570: 150648570
502KCNH2NM_000238.3(KCNH2): c.1912A> G (p.Lys638Glu)single nucleotide variantPathogenicrs199473528GRCh37Chr 7, 150648569: 150648569
503KCNH2NM_000238.3(KCNH2): c.1914G> T (p.Lys638Asn)single nucleotide variantPathogenicrs199472969GRCh37Chr 7, 150648567: 150648567
504KCNH2NM_000238.3(KCNH2): c.1918T> G (p.Phe640Val)single nucleotide variantPathogenicrs199473529GRCh37Chr 7, 150648563: 150648563
505KCNH2NM_000238.3(KCNH2): c.191G> A (p.Cys64Tyr)single nucleotide variantPathogenicrs199473415GRCh37Chr 7, 150671915: 150671915
506KCNH2NM_000238.3(KCNH2): c.1920C> A (p.Phe640Leu)single nucleotide variantPathogenicrs199472970GRCh37Chr 7, 150648561: 150648561
507KCNH2NM_000238.3(KCNH2): c.1922C> T (p.Ser641Phe)single nucleotide variantPathogenicrs199472971GRCh37Chr 7, 150648559: 150648559
508KCNH2NM_000238.3(KCNH2): c.192C> G (p.Cys64Trp)single nucleotide variantPathogenicrs199473414GRCh37Chr 7, 150671914: 150671914
509KCNH2NM_000238.3(KCNH2): c.1930G> C (p.Val644Leu)single nucleotide variantPathogenicrs199472972GRCh37Chr 7, 150648551: 150648551
510KCNH2NM_000238.3(KCNH2): c.1930G> T (p.Val644Phe)single nucleotide variantPathogenicrs199472972GRCh37Chr 7, 150648551: 150648551
511KCNH2NM_000238.3(KCNH2): c.1933A> G (p.Met645Val)single nucleotide variantPathogenicrs199472974GRCh37Chr 7, 150648548: 150648548
512KCNH2NM_000238.3(KCNH2): c.1933A> T (p.Met645Leu)single nucleotide variantPathogenicrs199472974GRCh37Chr 7, 150648548: 150648548
513KCNH2NM_000238.3(KCNH2): c.1935G> A (p.Met645Ile)single nucleotide variantPathogenicrs199472973GRCh37Chr 7, 150648546: 150648546
514KCNH2NM_000238.3(KCNH2): c.1942G> A (p.Gly648Ser)single nucleotide variantPathogenicrs199472975GRCh37Chr 7, 150648539: 150648539
515KCNH2NM_000238.3(KCNH2): c.1945T> C (p.Ser649Pro)single nucleotide variantPathogenicrs199473530GRCh37Chr 7, 150648536: 150648536
516KCNH2NM_000238.3(KCNH2): c.1946C> T (p.Ser649Phe)single nucleotide variantPathogenicrs199472976GRCh37Chr 7, 150648208: 150648208
517KCNH2NM_000238.3(KCNH2): c.1967T> G (p.Phe656Cys)single nucleotide variantPathogenicrs199472977GRCh37Chr 7, 150648187: 150648187
518KCNH2NM_000238.3(KCNH2): c.1969G> A (p.Gly657Ser)single nucleotide variantPathogenicrs199472978GRCh37Chr 7, 150648185: 150648185
519KCNH2NM_000238.3(KCNH2): c.1969G> C (p.Gly657Arg)single nucleotide variantPathogenicrs199472978GRCh37Chr 7, 150648185: 150648185
520KCNH2NM_000238.3(KCNH2): c.1969G> T (p.Gly657Cys)single nucleotide variantPathogenicrs199472978GRCh37Chr 7, 150648185: 150648185
521KCNH2NM_000238.3(KCNH2): c.196T> G (p.Cys66Gly)single nucleotide variantPathogenicrs199473416GRCh37Chr 7, 150671910: 150671910
522KCNH2NM_000238.3(KCNH2): c.1979C> T (p.Ser660Leu)single nucleotide variantPathogenicrs199472979GRCh37Chr 7, 150648175: 150648175
523KCNH2NM_000238.3(KCNH2): c.1985T> C (p.Ile662Thr)single nucleotide variantPathogenicrs199472980GRCh37Chr 7, 150648169: 150648169
524KCNH2NM_000238.3(KCNH2): c.1A> T (p.Met1Leu)single nucleotide variantLikely pathogenicrs199473036GRCh37Chr 7, 150675001: 150675001
525KCNH2NM_000238.3(KCNH2): c.202T> C (p.Phe68Leu)single nucleotide variantPathogenicrs199473417GRCh37Chr 7, 150671904: 150671904
526KCNH2NM_000238.3(KCNH2): c.2033T> C (p.Leu678Pro)single nucleotide variantPathogenicrs199472981GRCh37Chr 7, 150648121: 150648121
527KCNH2NM_000238.3(KCNH2): c.2059C> T (p.His687Tyr)single nucleotide variantPathogenicrs199472982GRCh37Chr 7, 150648095: 150648095
528KCNH2NM_000238.3(KCNH2): c.206T> C (p.Leu69Pro)single nucleotide variantPathogenicrs199473665GRCh37Chr 7, 150671900: 150671900
529KCNH2NM_000238.3(KCNH2): c.2078T> C (p.Leu693Pro)single nucleotide variantPathogenicrs199472983GRCh37Chr 7, 150648076: 150648076
530KCNH2NM_000238.3(KCNH2): c.2086C> T (p.Arg696Cys)single nucleotide variantPathogenicrs199472984GRCh37Chr 7, 150648068: 150648068
531KCNH2NM_000238.3(KCNH2): c.2087G> C (p.Arg696Pro)single nucleotide variantPathogenicrs199473531GRCh37Chr 7, 150648067: 150648067
532KCNH2NM_000238.3(KCNH2): c.208C> A (p.His70Asn)single nucleotide variantPathogenicrs199473418GRCh37Chr 7, 150671898: 150671898
533KCNH2NM_000238.3(KCNH2): c.209A> G (p.His70Arg)single nucleotide variantPathogenicrs199473419GRCh37Chr 7, 150671897: 150671897
534KCNH2NM_000238.3(KCNH2): c.2117C> G (p.Ser706Cys)single nucleotide variantPathogenicrs199472985GRCh37Chr 7, 150648037: 150648037
535KCNH2NM_000238.3(KCNH2): c.211G> C (p.Gly71Arg)single nucleotide variantPathogenicrs199473420GRCh37Chr 7, 150671895: 150671895
536KCNH2NM_000238.3(KCNH2): c.2131A> G (p.Ile711Val)single nucleotide variantPathogenicrs199473532GRCh37Chr 7, 150648023: 150648023
537KCNH2NM_000238.3(KCNH2): c.215C> A (p.Pro72Gln)single nucleotide variantPathogenicrs199473421GRCh37Chr 7, 150671891: 150671891
538KCNH2NM_000238.3(KCNH2): c.215C> G (p.Pro72Arg)single nucleotide variantPathogenicrs199473421GRCh37Chr 7, 150671891: 150671891
539KCNH2NM_000238.3(KCNH2): c.215C> T (p.Pro72Leu)single nucleotide variantPathogenicrs199473421GRCh37Chr 7, 150671891: 150671891
540KCNH2NM_000238.3(KCNH2): c.2162C> T (p.Pro721Leu)single nucleotide variantPathogenicrs199472986GRCh37Chr 7, 150647492: 150647492
541KCNH2NM_000238.3(KCNH2): c.2182A> T (p.Ile728Phe)single nucleotide variantPathogenicrs199473533GRCh37Chr 7, 150647472: 150647472
542KCNH2NM_000238.3(KCNH2): c.2204C> T (p.Ser735Leu)single nucleotide variantLikely pathogenicrs199472988GRCh37Chr 7, 150647450: 150647450
543KCNH2NM_000238.3(KCNH2): c.220A> C (p.Thr74Pro)single nucleotide variantPathogenicrs199473666GRCh37Chr 7, 150671886: 150671886
544KCNH2NM_000238.3(KCNH2): c.221C> G (p.Thr74Arg)single nucleotide variantPathogenicrs199473422GRCh37Chr 7, 150671885: 150671885
545KCNH2NM_000238.3(KCNH2): c.2246G> T (p.Gly749Val)single nucleotide variantPathogenicrs199472989GRCh37Chr 7, 150647408: 150647408
546KCNH2NM_000238.3(KCNH2): c.2254C> T (p.Arg752Trp)single nucleotide variantPathogenicrs199472990GRCh37Chr 7, 150647400: 150647400
547KCNH2NM_000238.3(KCNH2): c.2257G> T (p.Ala753Ser)single nucleotide variantPathogenicrs199472991GRCh37Chr 7, 150647397: 150647397
548KCNH2NM_000238.3(KCNH2): c.2271G> C (p.Lys757Asn)single nucleotide variantPathogenicrs199472992GRCh37Chr 7, 150647383: 150647383
549KCNH2NM_000238.3(KCNH2): c.2299G> T (p.Asp767Tyr)single nucleotide variantPathogenicrs199472993GRCh37Chr 7, 150647355: 150647355
550KCNH2NM_000238.3(KCNH2): c.2309T> C (p.Val770Ala)single nucleotide variantPathogenicrs199472994GRCh37Chr 7, 150647345: 150647345
551KCNH2NM_000238.3(KCNH2): c.2320G> T (p.Asp774Tyr)single nucleotide variantPathogenicrs199472995GRCh37Chr 7, 150647334: 150647334
552KCNH2NM_000238.3(KCNH2): c.232G> C (p.Ala78Pro)single nucleotide variantPathogenicrs199472848GRCh37Chr 7, 150671874: 150671874
553KCNH2NM_000238.3(KCNH2): c.2354G> C (p.Gly785Ala)single nucleotide variantPathogenicrs199472996GRCh37Chr 7, 150647300: 150647300
554KCNH2NM_000238.3(KCNH2): c.2354G> T (p.Gly785Val)single nucleotide variantPathogenicrs199472996GRCh37Chr 7, 150647300: 150647300
555KCNH2NM_000238.3(KCNH2): c.2362G> A (p.Glu788Lys)single nucleotide variantPathogenicrs199472997GRCh37Chr 7, 150647292: 150647292
556KCNH2NM_000238.3(KCNH2): c.2364G> C (p.Glu788Asp)single nucleotide variantPathogenicrs199473535GRCh37Chr 7, 150647290: 150647290
557KCNH2NM_000238.3(KCNH2): c.2371C> T (p.Arg791Trp)single nucleotide variantPathogenicrs138498207GRCh37Chr 7, 150647283: 150647283
558KCNH2NM_000238.3(KCNH2): c.238G> C (p.Ala80Pro)single nucleotide variantPathogenicrs199473037GRCh37Chr 7, 150671868: 150671868
559KCNH2NM_000238.3(KCNH2): c.2398G> T (p.Gly800Trp)single nucleotide variantPathogenicrs199472998GRCh37Chr 7, 150647256: 150647256
560KCNH2NM_000238.3(KCNH2): c.2399G> A (p.Gly800Glu)single nucleotide variantPathogenicrs199473536GRCh37Chr 7, 150646137: 150646137
561KCNH2NM_000238.3(KCNH2): c.2414T> C (p.Phe805Ser)single nucleotide variantPathogenicrs199472999GRCh37Chr 7, 150646122: 150646122
562KCNH2NM_000238.3(KCNH2): c.2414T> G (p.Phe805Cys)single nucleotide variantPathogenicrs199472999GRCh37Chr 7, 150646122: 150646122
563KCNH2NM_000238.3(KCNH2): c.2417G> A (p.Gly806Glu)single nucleotide variantPathogenicrs199473000GRCh37Chr 7, 150646119: 150646119
564KCNH2NM_000238.3(KCNH2): c.243G> C (p.Gln81His)single nucleotide variantLikely pathogenicrs199472849GRCh37Chr 7, 150671863: 150671863
565KCNH2NM_000238.3(KCNH2): c.2452T> C (p.Ser818Pro)single nucleotide variantPathogenicrs199473537GRCh37Chr 7, 150646084: 150646084
566KCNH2NM_000238.3(KCNH2): c.2458G> A (p.Gly820Arg)single nucleotide variantPathogenicrs199473001GRCh37Chr 7, 150646078: 150646078
567KCNH2NM_000238.3(KCNH2): c.2467C> T (p.Arg823Trp)single nucleotide variantPathogenicrs199473538GRCh37Chr 7, 150646069: 150646069
568KCNH2NM_000238.3(KCNH2): c.2477C> T (p.Thr826Ile)single nucleotide variantPathogenicrs199473002GRCh37Chr 7, 150646059: 150646059
569KCNH2NM_000238.3(KCNH2): c.2503C> T (p.Arg835Trp)single nucleotide variantPathogenicrs199473003GRCh37Chr 7, 150646033: 150646033
570KCNH2NM_000238.3(KCNH2): c.2509G> A (p.Asp837Asn)single nucleotide variantPathogenicrs199473005GRCh37Chr 7, 150646027: 150646027
571KCNH2NM_000238.3(KCNH2): c.2509G> T (p.Asp837Tyr)single nucleotide variantPathogenicrs199473005GRCh37Chr 7, 150646027: 150646027
572KCNH2NM_000238.3(KCNH2): c.2510A> G (p.Asp837Gly)single nucleotide variantPathogenicrs199473004GRCh37Chr 7, 150646026: 150646026
573KCNH2NM_000238.3(KCNH2): c.2536C> A (p.Pro846Thr)single nucleotide variantPathogenicrs199473006GRCh37Chr 7, 150646000: 150646000
574KCNH2NM_000238.3(KCNH2): c.2536C> T (p.Pro846Ser)single nucleotide variantPathogenicrs199473006GRCh37Chr 7, 150646000: 150646000
575KCNH2NM_000238.3(KCNH2): c.253G> C (p.Ala85Pro)single nucleotide variantPathogenicrs199472850GRCh37Chr 7, 150671853: 150671853
576KCNH2NM_000238.3(KCNH2): c.254C> T (p.Ala85Val)single nucleotide variantPathogenicrs199473494GRCh37Chr 7, 150671852: 150671852
577KCNH2NM_000238.3(KCNH2): c.2573T> C (p.Ile858Thr)single nucleotide variantPathogenicrs199473539GRCh37Chr 7, 150645963: 150645963
578KCNH2NM_000238.3(KCNH2): c.257T> C (p.Leu86Pro)single nucleotide variantPathogenicrs199472851GRCh37Chr 7, 150671849: 150671849
579KCNH2NM_000238.3(KCNH2): c.257T> G (p.Leu86Arg)single nucleotide variantPathogenicrs199472851GRCh37Chr 7, 150671849: 150671849
580KCNH2NM_000238.3(KCNH2): c.2581A> C (p.Asn861His)single nucleotide variantPathogenicrs199473007GRCh37Chr 7, 150645955: 150645955
581KCNH2NM_000238.3(KCNH2): c.2582A> C (p.Asn861Thr)single nucleotide variantPathogenicrs121912513GRCh37Chr 7, 150645954: 150645954
582KCNH2NM_000238.3(KCNH2): c.2591A> G (p.Asp864Gly)single nucleotide variantPathogenicrs199473008GRCh37Chr 7, 150645945: 150645945
583KCNH2NM_000238.3(KCNH2): c.260T> C (p.Leu87Pro)single nucleotide variantPathogenicrs199473495GRCh37Chr 7, 150671846: 150671846
584KCNH2NM_000238.3(KCNH2): c.2635G> C (p.Gly879Arg)single nucleotide variantLikely pathogenicrs199473040GRCh37Chr 7, 150645589: 150645589
585KCNH2NM_000238.3(KCNH2): c.2653C> T (p.Arg885Cys)single nucleotide variantPathogenicrs143512106GRCh37Chr 7, 150645571: 150645571
586KCNH2NM_000238.3(KCNH2): c.2660G> A (p.Arg887His)single nucleotide variantPathogenicrs199473432GRCh37Chr 7, 150645564: 150645564
587KCNH2NM_000238.3(KCNH2): c.2680C> T (p.Arg894Cys)single nucleotide variantPathogenicrs199473433GRCh37Chr 7, 150645544: 150645544
588KCNH2NM_000238.3(KCNH2): c.2681G> T (p.Arg894Leu)single nucleotide variantPathogenicrs199473668GRCh37Chr 7, 150645543: 150645543
589KCNH2NM_000238.3(KCNH2): c.2707G> A (p.Gly903Arg)single nucleotide variantPathogenicrs199473669GRCh37Chr 7, 150644952: 150644952
590KCNH2NM_000238.3(KCNH2): c.2717C> T (p.Ser906Leu)single nucleotide variantPathogenicrs199473435GRCh37Chr 7, 150644942: 150644942
591KCNH2NM_000238.3(KCNH2): c.2758C> T (p.Arg920Trp)single nucleotide variantPathogenicrs199473438GRCh37Chr 7, 150644901: 150644901
592KCNH2NM_000238.3(KCNH2): c.2759G> A (p.Arg920Gln)single nucleotide variantPathogenicrs199473670GRCh37Chr 7, 150644900: 150644900
593KCNH2NM_000238.3(KCNH2): c.2764C> T (p.Arg922Trp)single nucleotide variantPathogenicrs199473440GRCh37Chr 7, 150644895: 150644895
594KCNH2NM_000238.3(KCNH2): c.2765G> A (p.Arg922Gln)single nucleotide variantPathogenicrs199473439GRCh37Chr 7, 150644894: 150644894
595KCNH2NM_000238.3(KCNH2): c.2771G> A (p.Gly924Glu)single nucleotide variantPathogenicrs199473009GRCh37Chr 7, 150644888: 150644888
596KCNH2NM_000238.3(KCNH2): c.2771G> C (p.Gly924Ala)single nucleotide variantPathogenicrs199473009GRCh37Chr 7, 150644888: 150644888
597KCNH2NM_000238.3(KCNH2): c.2810G> A (p.Ser937Asn)single nucleotide variantPathogenicrs199473540GRCh37Chr 7, 150644849: 150644849
598KCNH2NM_000238.3(KCNH2): c.281T> G (p.Val94Gly)single nucleotide variantPathogenicrs199472852GRCh37Chr 7, 150671825: 150671825
599KCNH2NM_000238.3(KCNH2): c.2842C> A (p.Arg948Ser)single nucleotide variantPathogenicrs121912514GRCh37Chr 7, 150644817: 150644817
600KCNH2NM_000238.3(KCNH2): c.2843G> A (p.Arg948His)single nucleotide variantPathogenicrs199473011GRCh37Chr 7, 150644816: 150644816
601KCNH2NM_000238.3(KCNH2): c.2863C> G (p.Leu955Val)single nucleotide variantPathogenicrs199473012GRCh37Chr 7, 150644796: 150644796
602KCNH2NM_000238.3(KCNH2): c.286A> G (p.Ile96Val)single nucleotide variantPathogenicrs199473496GRCh37Chr 7, 150671820: 150671820
603KCNH2NM_000238.3(KCNH2): c.2879G> A (p.Ser960Asn)single nucleotide variantPathogenicrs199473013GRCh37Chr 7, 150644780: 150644780
604KCNH2NM_000238.3(KCNH2): c.287T> C (p.Ile96Thr)single nucleotide variantPathogenicrs199472853GRCh37Chr 7, 150671819: 150671819
605KCNH2NM_000238.3(KCNH2): c.2887C> A (p.Pro963Thr)single nucleotide variantPathogenicrs199473014GRCh37Chr 7, 150644772: 150644772
606KCNH2NM_000238.3(KCNH2): c.2948C> T (p.Thr983Ile)single nucleotide variantPathogenicrs149955375GRCh37Chr 7, 150644711: 150644711
607KCNH2NM_000238.3(KCNH2): c.296A> C (p.Tyr99Ser)single nucleotide variantPathogenicrs199472854GRCh37Chr 7, 150671810: 150671810
608KCNH2NM_000238.3(KCNH2): c.2987A> T (p.Asn996Ile)single nucleotide variantPathogenicrs199473018GRCh37Chr 7, 150644581: 150644581
609KCNH2NM_000238.3(KCNH2): c.298C> T (p.Arg100Trp)single nucleotide variantPathogenicrs121912515GRCh37Chr 7, 150671808: 150671808
610KCNH2NM_000238.3(KCNH2): c.299G> A (p.Arg100Gln)single nucleotide variantPathogenicrs199472855GRCh37Chr 7, 150671807: 150671807
611KCNH2NM_000238.3(KCNH2): c.3014G> A (p.Arg1005Gln)single nucleotide variantPathogenicrs199473019GRCh37Chr 7, 150644554: 150644554
612KCNH2NM_000238.3(KCNH2): c.301A> G (p.Lys101Glu)single nucleotide variantPathogenicrs199472856GRCh37Chr 7, 150671805: 150671805
613KCNH2NM_000238.3(KCNH2): c.3020G> A (p.Arg1007His)single nucleotide variantPathogenicrs199473542GRCh37Chr 7, 150644548: 150644548
614KCNH2NM_000238.3(KCNH2): c.305A> C (p.Asp102Ala)single nucleotide variantPathogenicrs199472857GRCh37Chr 7, 150671801: 150671801
615KCNH2NM_000238.3(KCNH2): c.305A> T (p.Asp102Val)single nucleotide variantPathogenicrs199472857GRCh37Chr 7, 150671801: 150671801
616KCNH2NM_000238.3(KCNH2): c.3095G> A (p.Arg1032Gln)single nucleotide variantPathogenicrs199473020GRCh37Chr 7, 150644473: 150644473
617KCNH2NM_000238.3(KCNH2): c.3097C> T (p.Arg1033Trp)single nucleotide variantPathogenicrs199473021GRCh37Chr 7, 150644471: 150644471
618KCNH2NM_000238.3(KCNH2): c.3107G> A (p.Gly1036Asp)single nucleotide variantPathogenicrs199473022GRCh37Chr 7, 150644461: 150644461
619KCNH2NM_000238.3(KCNH2): c.3112G> A (p.Val1038Met)single nucleotide variantPathogenicrs199473544GRCh37Chr 7, 150644456: 150644456
620KCNH2NM_000238.3(KCNH2): c.3133C> T (p.Leu1045Phe)single nucleotide variantPathogenicrs199473025GRCh37Chr 7, 150644435: 150644435
621KCNH2NM_000238.3(KCNH2): c.3146T> C (p.Leu1049Pro)single nucleotide variantPathogenicrs199473026GRCh37Chr 7, 150644422: 150644422
622KCNH2NM_000238.3(KCNH2): c.317T> A (p.Phe106Tyr)single nucleotide variantPathogenicrs199472858GRCh37Chr 7, 150656815: 150656815
623KCNH2NM_000238.3(KCNH2): c.318C> A (p.Phe106Leu)single nucleotide variantPathogenicrs199473497GRCh37Chr 7, 150656814: 150656814
624KCNH2NM_000238.3(KCNH2): c.3196C> G (p.Leu1066Val)single nucleotide variantPathogenicrs199473027GRCh37Chr 7, 150644099: 150644099
625KCNH2NM_000238.3(KCNH2): c.3224C> T (p.Pro1075Leu)single nucleotide variantPathogenicrs199473028GRCh37Chr 7, 150644071: 150644071
626KCNH2NM_000238.3(KCNH2): c.322T> C (p.Cys108Arg)single nucleotide variantPathogenicrs199472859GRCh37Chr 7, 150656810: 150656810
627KCNH2NM_000238.3(KCNH2): c.3233A> G (p.Tyr1078Cys)single nucleotide variantPathogenicrs199473029GRCh37Chr 7, 150644062: 150644062
628KCNH2NM_000238.3(KCNH2): c.3278C> T (p.Pro1093Leu)single nucleotide variantPathogenicrs199473545GRCh37Chr 7, 150644017: 150644017
629KCNH2NM_000238.3(KCNH2): c.3302C> T (p.Pro1101Leu)single nucleotide variantLikely pathogenicrs199473041GRCh37Chr 7, 150643993: 150643993
630KCNH2NM_000238.3(KCNH2): c.332A> T (p.Asp111Val)single nucleotide variantPathogenicrs199472860GRCh37Chr 7, 150656800: 150656800
631KCNH2NM_000238.3(KCNH2): c.3343A> G (p.Met1115Val)single nucleotide variantPathogenicrs199473546GRCh37Chr 7, 150642590: 150642590
632KCNH2NM_000238.3(KCNH2): c.3347C> T (p.Ala1116Val)single nucleotide variantPathogenicrs199473032GRCh37Chr 7, 150642586: 150642586
633KCNH2NM_000238.3(KCNH2): c.340C> T (p.Pro114Ser)single nucleotide variantPathogenicrs199472861GRCh37Chr 7, 150656792: 150656792
634KCNH2NM_000238.3(KCNH2): c.3430G> A (p.Ala1144Thr)single nucleotide variantPathogenicrs199473034GRCh37Chr 7, 150642503: 150642503
635KCNH2NM_000238.3(KCNH2): c.343G> A (p.Val115Met)single nucleotide variantPathogenicrs150988911GRCh37Chr 7, 150656789: 150656789
636KCNH2NM_000238.3(KCNH2): c.3457C> T (p.His1153Tyr)single nucleotide variantPathogenicrs199473035GRCh37Chr 7, 150642476: 150642476
637KCNH2NM_000238.3(KCNH2): c.371T> C (p.Met124Thr)single nucleotide variantPathogenicrs199472862GRCh37Chr 7, 150656761: 150656761
638KCNH2NM_000238.3(KCNH2): c.371T> G (p.Met124Arg)single nucleotide variantPathogenicrs199472862GRCh37Chr 7, 150656761: 150656761
639KCNH2NM_000238.3(KCNH2): c.374T> G (p.Phe125Cys)single nucleotide variantPathogenicrs199473499GRCh37Chr 7, 150656758: 150656758
640KCNH2NM_000238.3(KCNH2): c.388G> A (p.Glu130Lys)single nucleotide variantPathogenicrs199472863GRCh37Chr 7, 150656744: 150656744
641KCNH2NM_000238.3(KCNH2): c.446G> C (p.Gly149Ala)single nucleotide variantPathogenicrs199472865GRCh37Chr 7, 150656686: 150656686
642KCNH2NM_000238.3(KCNH2): c.47A> C (p.Asp16Ala)single nucleotide variantPathogenicrs199472825GRCh37Chr 7, 150674955: 150674955
643KCNH2NM_000238.3(KCNH2): c.491G> A (p.Arg164His)single nucleotide variantPathogenicrs199472866GRCh37Chr 7, 150655572: 150655572
644KCNH2NM_000238.3(KCNH2): c.58C> G (p.Arg20Gly)single nucleotide variantPathogenicrs199473486GRCh37Chr 7, 150674944: 150674944
645KCNH2NM_000238.3(KCNH2): c.652A> G (p.Met218Val)single nucleotide variantPathogenicrs199472869GRCh37Chr 7, 150655411: 150655411
646KCNH2NM_000238.3(KCNH2): c.65T> C (p.Phe22Ser)single nucleotide variantPathogenicrs199472826GRCh37Chr 7, 150674937: 150674937
647KCNH2NM_000238.3(KCNH2): c.712G> A (p.Gly238Ser)single nucleotide variantPathogenicrs199473501GRCh37Chr 7, 150655351: 150655351
648KCNH2NM_000238.3(KCNH2): c.722C> T (p.Pro241Leu)single nucleotide variantPathogenicrs199472871GRCh37Chr 7, 150655341: 150655341
649KCNH2NM_000238.3(KCNH2): c.724C> G (p.Arg242Gly)single nucleotide variantPathogenicrs199472872GRCh37Chr 7, 150655339: 150655339
650KCNH2NM_000238.3(KCNH2): c.751C> T (p.Pro251Ser)single nucleotide variantPathogenicrs199472873GRCh37Chr 7, 150655312: 150655312
651KCNH2NM_000238.3(KCNH2): c.754C> G (p.Arg252Gly)single nucleotide variantPathogenicrs199472874GRCh37Chr 7, 150655309: 150655309
652KCNH2NM_000238.3(KCNH2): c.775G> A (p.Asp259Asn)single nucleotide variantPathogenicrs199472876GRCh37Chr 7, 150655288: 150655288
653KCNH2NM_000238.3(KCNH2): c.77G> T (p.Ser26Ile)single nucleotide variantPathogenicrs199472827GRCh37Chr 7, 150672029: 150672029
654KCNH2NM_000238.3(KCNH2): c.805C> T (p.Arg269Trp)single nucleotide variantPathogenicrs199473503GRCh37Chr 7, 150655258: 150655258
655KCNH2NM_000238.3(KCNH2): c.80G> C (p.Arg27Pro)single nucleotide variantPathogenicrs199472828GRCh37Chr 7, 150672026: 150672026
656KCNH2NM_000238.3(KCNH2): c.82A> G (p.Lys28Glu)single nucleotide variantPathogenicrs199472829GRCh37Chr 7, 150672024: 150672024
657KCNH2NM_000238.3(KCNH2): c.830C> A (p.Ala277Asp)single nucleotide variantPathogenicrs199472878GRCh37Chr 7, 150655233: 150655233
658KCNH2NM_000238.3(KCNH2): c.865G> A (p.Glu289Lys)single nucleotide variantPathogenicrs199472880GRCh37Chr 7, 150655198: 150655198
659KCNH2NM_000238.3(KCNH2): c.86T> C (p.Phe29Ser)single nucleotide variantPathogenicrs199472831GRCh37Chr 7, 150672020: 150672020
660KCNH2NM_000238.3(KCNH2): c.872T> C (p.Met291Thr)single nucleotide variantPathogenicrs199472881GRCh37Chr 7, 150655191: 150655191
661KCNH2NM_000238.3(KCNH2): c.87C> A (p.Phe29Leu)single nucleotide variantPathogenicrs199472830GRCh37Chr 7, 150672019: 150672019
662KCNH2NM_000238.3(KCNH2): c.889C> T (p.Pro297Ser)single nucleotide variantPathogenicrs199472882GRCh37Chr 7, 150655174: 150655174
663KCNH2NM_000238.3(KCNH2): c.89T> C (p.Ile30Thr)single nucleotide variantPathogenicrs199472832GRCh37Chr 7, 150672017: 150672017
664KCNH2NM_000238.3(KCNH2): c.902G> T (p.Arg301Leu)single nucleotide variantPathogenicrs199472883GRCh37Chr 7, 150655161: 150655161
665KCNH2NM_000238.3(KCNH2): c.916G> C (p.Gly306Arg)single nucleotide variantPathogenicrs199472884GRCh37Chr 7, 150655147: 150655147
666KCNH2NM_000238.3(KCNH2): c.916G> T (p.Gly306Trp)single nucleotide variantPathogenicrs199472884GRCh37Chr 7, 150655147: 150655147
667KCNH2NM_000238.3(KCNH2): c.92T> C (p.Ile31Thr)single nucleotide variantPathogenicrs199472833GRCh37Chr 7, 150672014: 150672014
668KCNH2NM_000238.3(KCNH2): c.92T> G (p.Ile31Ser)single nucleotide variantPathogenicrs199472833GRCh37Chr 7, 150672014: 150672014
669KCNH2NM_000238.3(KCNH2): c.934C> T (p.Arg312Cys)single nucleotide variantPathogenicrs199472885GRCh37Chr 7, 150654573: 150654573
670KCNH2NM_000238.3(KCNH2): c.940G> A (p.Gly314Ser)single nucleotide variantPathogenicrs199473504GRCh37Chr 7, 150654567: 150654567
671KCNH2NM_000238.3(KCNH2): c.94G> A (p.Ala32Thr)single nucleotide variantPathogenicrs199472834GRCh37Chr 7, 150672012: 150672012
672KCNH2NM_000238.3(KCNH2): c.959C> T (p.Ser320Leu)single nucleotide variantPathogenicrs199472886GRCh37Chr 7, 150654548: 150654548
673KCNH2NM_000238.3(KCNH2): c.967G> A (p.Asp323Asn)single nucleotide variantPathogenicrs199472887GRCh37Chr 7, 150654540: 150654540
674KCNJ2NM_000891.2(KCNJ2): c.1051C> T (p.Pro351Ser)single nucleotide variantPathogenicrs199473659GRCh37Chr 17, 68172231: 68172231
675KCNJ2NM_000891.2(KCNJ2): c.1265G> T (p.Arg422Leu)single nucleotide variantPathogenicrs199473390GRCh37Chr 17, 68172445: 68172445
676KCNJ2NM_000891.2(KCNJ2): c.200G> A (p.Arg67Gln)single nucleotide variantPathogenicrs199473368GRCh37Chr 17, 68171380: 68171380
677KCNJ2NM_000891.2(KCNJ2): c.202T> G (p.Tyr68Asp)single nucleotide variantPathogenicrs199473651GRCh37Chr 17, 68171382: 68171382
678KCNJ2NM_000891.2(KCNJ2): c.211G> A (p.Asp71Asn)single nucleotide variantPathogenicrs199473369GRCh37Chr 17, 68171391: 68171391
679KCNJ2NM_000891.2(KCNJ2): c.220A> G (p.Thr74Ala)single nucleotide variantPathogenicrs199473652GRCh37Chr 17, 68171400: 68171400
680KCNJ2NM_000891.2(KCNJ2): c.223A> G (p.Thr75Ala)single nucleotide variantPathogenicrs199473370GRCh37Chr 17, 68171403: 68171403
681KCNJ2NM_000891.2(KCNJ2): c.224C> T (p.Thr75Met)single nucleotide variantPathogenicrs104894585GRCh37Chr 17, 68171404: 68171404
682KCNJ2NM_000891.2(KCNJ2): c.232G> T (p.Asp78Tyr)single nucleotide variantPathogenicrs199473372GRCh37Chr 17, 68171412: 68171412
683KCNJ2NM_000891.2(KCNJ2): c.233A> G (p.Asp78Gly)single nucleotide variantPathogenicrs199473371GRCh37Chr 17, 68171413: 68171413
684KCNJ2NM_000891.2(KCNJ2): c.245G> A (p.Arg82Gln)single nucleotide variantPathogenicrs199473653GRCh37Chr 17, 68171425: 68171425
685KCNJ2NM_000891.2(KCNJ2): c.368T> G (p.Val123Gly)single nucleotide variantPathogenicrs199473375GRCh37Chr 17, 68171548: 68171548
686KCNJ2NM_000891.2(KCNJ2): c.407C> T (p.Ser136Phe)single nucleotide variantPathogenicrs199473376GRCh37Chr 17, 68171587: 68171587
687KCNJ2NM_000891.2(KCNJ2): c.430G> A (p.Gly144Ser)single nucleotide variantPathogenicrs199473378GRCh37Chr 17, 68171610: 68171610
688KCNJ2NM_000891.2(KCNJ2): c.431G> A (p.Gly144Asp)single nucleotide variantPathogenicrs199473377GRCh37Chr 17, 68171611: 68171611
689KCNJ2NM_000891.2(KCNJ2): c.431G> C (p.Gly144Ala)single nucleotide variantPathogenicrs199473377GRCh37Chr 17, 68171611: 68171611
690KCNJ2NM_000891.2(KCNJ2): c.436G> A (p.Gly146Ser)single nucleotide variantPathogenicrs199473654GRCh37Chr 17, 68171616: 68171616
691KCNJ2NM_000891.2(KCNJ2): c.437G> A (p.Gly146Asp)single nucleotide variantPathogenicrs199473379GRCh37Chr 17, 68171617: 68171617
692KCNJ2NM_000891.2(KCNJ2): c.437G> C (p.Gly146Ala)single nucleotide variantPathogenicrs199473379GRCh37Chr 17, 68171617: 68171617
693KCNJ2NM_000891.2(KCNJ2): c.461G> T (p.Cys154Phe)single nucleotide variantPathogenicrs199473380GRCh37Chr 17, 68171641: 68171641
694KCNJ2NM_000891.2(KCNJ2): c.566G> T (p.Arg189Ile)single nucleotide variantPathogenicrs199473381GRCh37Chr 17, 68171746: 68171746
695KCNJ2NM_000891.2(KCNJ2): c.574A> G (p.Thr192Ala)single nucleotide variantPathogenicrs199473382GRCh37Chr 17, 68171754: 68171754
696KCNJ2NM_000891.2(KCNJ2): c.575C> T (p.Thr192Ile)single nucleotide variantPathogenicrs199473655GRCh37Chr 17, 68171755: 68171755
697KCNJ2NM_000891.2(KCNJ2): c.644G> A (p.Gly215Asp)single nucleotide variantPathogenicrs199473383GRCh37Chr 17, 68171824: 68171824
698KCNJ2NM_000891.2(KCNJ2): c.650T> C (p.Leu217Pro)single nucleotide variantPathogenicrs199473656GRCh37Chr 17, 68171830: 68171830
699KCNJ2NM_000891.2(KCNJ2): c.653G> A (p.Arg218Gln)single nucleotide variantPathogenicrs199473384GRCh37Chr 17, 68171833: 68171833
700KCNJ2NM_000891.2(KCNJ2): c.779G> C (p.Arg260Pro)single nucleotide variantPathogenicrs199473385GRCh37Chr 17, 68171959: 68171959
701KCNJ2NM_000891.2(KCNJ2): c.899G> A (p.Gly300Asp)single nucleotide variantPathogenicrs104894579GRCh37Chr 17, 68172079: 68172079
702KCNJ2NM_000891.2(KCNJ2): c.899G> C (p.Gly300Ala)single nucleotide variantPathogenicrs104894579GRCh37Chr 17, 68172079: 68172079
703KCNJ2NM_000891.2(KCNJ2): c.907G> A (p.Glu303Lys)single nucleotide variantPathogenicrs199473386GRCh37Chr 17, 68172087: 68172087
704KCNJ2NM_000891.2(KCNJ2): c.921G> A (p.Met307Ile)single nucleotide variantPathogenicrs199473658GRCh37Chr 17, 68172101: 68172101
705KCNJ2NM_000891.2(KCNJ2): c.926C> T (p.Thr309Ile)single nucleotide variantPathogenicrs199473388GRCh37Chr 17, 68172106: 68172106
706KCNJ2NM_000891.2(KCNJ2): c.934C> T (p.Arg312Cys)single nucleotide variantPathogenicrs199473389GRCh37Chr 17, 68172114: 68172114
707ANK2NM_001127493.1(ANK2): c.4426G> A (p.Glu1476Lys)single nucleotide variantPathogenicrs180843436GRCh37Chr 4, 114282005: 114282005
708ANK2NM_001127493.1(ANK2): c.4576T> A (p.Trp1526Arg)single nucleotide variantPathogenicrs199473346GRCh37Chr 4, 114284595: 114284595
709ANK2NM_001127493.1(ANK2): c.4579C> G (p.Leu1527Val)single nucleotide variantPathogenicrs45570339GRCh37Chr 4, 114284598: 114284598
710ANK2NM_001127493.1(ANK2): c.4618G> A (p.Val1540Ile)single nucleotide variantPathogenicrs143228029GRCh37Chr 4, 114286206: 114286206
711ANK2NM_001127493.1(ANK2): c.4804G> A (p.Glu1602Lys)single nucleotide variantPathogenicrs199473347GRCh37Chr 4, 114288775: 114288775
712ANK2NM_001127493.1(ANK2): c.5234G> C (p.Ser1745Thr)single nucleotide variantPathogenicrs148654834GRCh37Chr 4, 114290867: 114290867
713ANK2NM_001127493.1(ANK2): c.5249C> A (p.Thr1750Asn)single nucleotide variantPathogenicrs199473643GRCh37Chr 4, 114290882: 114290882
714ANK2NM_001148.4(ANK2): c.4963C> A (p.Leu1655Met)single nucleotide variantPathogenicrs199473343GRCh37Chr 4, 114274737: 114274737
715KCNE2NM_172201.1(KCNE2): c.193G> A (p.Val65Met)single nucleotide variantPathogenicrs199473364GRCh37Chr 21, 35742970: 35742970
716KCNE2NM_172201.1(KCNE2): c.193G> C (p.Val65Leu)single nucleotide variantPathogenicrs199473364GRCh37Chr 21, 35742970: 35742970
717KCNE2NM_172201.1(KCNE2): c.229C> T (p.Arg77Trp)single nucleotide variantPathogenicrs141423405GRCh37Chr 21, 35743006: 35743006
718KCNE2NM_172201.1(KCNE2): c.230G> A (p.Arg77Gln)single nucleotide variantPathogenicrs199473365GRCh37Chr 21, 35743007: 35743007
719KCNE2NM_172201.1(KCNE2): c.281A> G (p.Glu94Gly)single nucleotide variantPathogenicrs74424227GRCh37Chr 21, 35743058: 35743058
720KCNE2NM_172201.1(KCNE2): c.29C> T (p.Thr10Met)single nucleotide variantPathogenicrs199473648GRCh37Chr 21, 35742806: 35742806
721KCNE2NM_172201.1(KCNE2): c.59T> A (p.Ile20Asn)single nucleotide variantPathogenicrs199473363GRCh37Chr 21, 35742836: 35742836
722KCNE2NM_172201.1(KCNE2): c.80G> A (p.Arg27His)single nucleotide variantPathogenicrs148968498GRCh37Chr 21, 35742857: 35742857
723SCN5ANM_000335.4(SCN5A): c.1018C> T (p.Arg340Trp)single nucleotide variantPathogenicrs199473094GRCh37Chr 3, 38648282: 38648282
724SCN5ANM_000335.4(SCN5A): c.1019G> A (p.Arg340Gln)single nucleotide variantPathogenicrs191009474GRCh37Chr 3, 38648281: 38648281
725SCN5ANM_000335.4(SCN5A): c.1099C> T (p.Arg367Cys)single nucleotide variantPathogenicrs199473097GRCh37Chr 3, 38648201: 38648201
726SCN5ANM_000335.4(SCN5A): c.1109C> T (p.Thr370Met)single nucleotide variantPathogenicrs199473099GRCh37Chr 3, 38648191: 38648191
727SCN5ANM_000335.4(SCN5A): c.1190T> C (p.Ile397Thr)single nucleotide variantPathogenicrs199473105GRCh37Chr 3, 38647590: 38647590
728SCN5ANM_000335.4(SCN5A): c.1211T> A (p.Leu404Gln)single nucleotide variantPathogenicrs199473107GRCh37Chr 3, 38647569: 38647569
729SCN5ANM_000335.4(SCN5A): c.1218C> A (p.Asn406Lys)single nucleotide variantPathogenicrs199473108GRCh37Chr 3, 38647562: 38647562
730SCN5ANM_000335.4(SCN5A): c.1218C> G (p.Asn406Lys)single nucleotide variantPathogenicrs199473108GRCh37Chr 3, 38647562: 38647562
731SCN5ANM_000335.4(SCN5A): c.1225C> G (p.Leu409Val)single nucleotide variantPathogenicrs199473109GRCh37Chr 3, 38647555: 38647555
732SCN5ANM_000335.4(SCN5A): c.1231G> A (p.Val411Met)single nucleotide variantPathogenicrs72549410GRCh37Chr 3, 38647549: 38647549
733SCN5ANM_000335.4(SCN5A): c.1237G> A (p.Ala413Thr)single nucleotide variantPathogenicrs199473110GRCh37Chr 3, 38647543: 38647543
734SCN5ANM_000335.4(SCN5A): c.1238C> A (p.Ala413Glu)single nucleotide variantPathogenicrs199473569GRCh37Chr 3, 38647542: 38647542
735SCN5ANM_000335.4(SCN5A): c.128G> A (p.Arg43Gln)single nucleotide variantPathogenicrs199473047GRCh37Chr 3, 38674671: 38674671
736SCN5ANM_000335.4(SCN5A): c.1384G> A (p.Glu462Lys)single nucleotide variantPathogenicrs199473572GRCh37Chr 3, 38646354: 38646354
737SCN5ANM_000335.4(SCN5A): c.1385A> C (p.Glu462Ala)single nucleotide variantPathogenicrs199473114GRCh37Chr 3, 38646353: 38646353
738SCN5ANM_000335.4(SCN5A): c.142G> A (p.Glu48Lys)single nucleotide variantPathogenicrs199473048GRCh37Chr 3, 38674657: 38674657
739SCN5ANM_000335.4(SCN5A): c.154C> T (p.Pro52Ser)single nucleotide variantPathogenicrs199473553GRCh37Chr 3, 38674645: 38674645
740SCN5ANM_000335.4(SCN5A): c.1567C> T (p.Arg523Cys)single nucleotide variantPathogenicrs199473119GRCh37Chr 3, 38645526: 38645526
741SCN5ANM_000335.4(SCN5A): c.1588T> G (p.Phe530Val)single nucleotide variantPathogenicrs199473120GRCh37Chr 3, 38645505: 38645505
742SCN5ANM_000335.4(SCN5A): c.158G> A (p.Arg53Gln)single nucleotide variantPathogenicrs199473049GRCh37Chr 3, 38674641: 38674641
743SCN5ANM_000335.4(SCN5A): c.1604G> A (p.Arg535Gln)single nucleotide variantPathogenicrs199473121GRCh37Chr 3, 38645489: 38645489
744SCN5ANM_000335.4(SCN5A): c.1705C> T (p.Arg569Trp)single nucleotide variantPathogenicrs199473576GRCh37Chr 3, 38645388: 38645388
745SCN5ANM_000335.4(SCN5A): c.1712G> T (p.Ser571Ile)single nucleotide variantPathogenicrs199473126GRCh37Chr 3, 38645381: 38645381
746SCN5ANM_000335.4(SCN5A): c.1714G> T (p.Ala572Ser)single nucleotide variantPathogenicrs184442491GRCh37Chr 3, 38645379: 38645379
747SCN5ANM_000335.4(SCN5A): c.1715C> A (p.Ala572Asp)single nucleotide variantLikely pathogenicrs36210423GRCh37Chr 3, 38645378: 38645378
748SCN5ANM_000335.4(SCN5A): c.1715C> T (p.Ala572Val)single nucleotide variantPathogenicrs36210423GRCh37Chr 3, 38645378: 38645378
749SCN5ANM_000335.4(SCN5A): c.1717C> G (p.Gln573Glu)single nucleotide variantPathogenicrs199473127GRCh37Chr 3, 38645376: 38645376
750SCN5ANM_000335.4(SCN5A): c.1844G> A (p.Gly615Glu)single nucleotide variantPathogenicrs12720452GRCh37Chr 3, 38645249: 38645249
751SCN5ANM_000335.4(SCN5A): c.1910C> T (p.Pro637Leu)single nucleotide variantPathogenicrs199473135GRCh37Chr 3, 38640522: 38640522
752SCN5ANM_000335.4(SCN5A): c.1915G> A (p.Gly639Arg)single nucleotide variantPathogenicrs199473136GRCh37Chr 3, 38640517: 38640517
753SCN5ANM_000335.4(SCN5A): c.1915G> C (p.Gly639Arg)single nucleotide variantPathogenicrs199473136GRCh37Chr 3, 38640517: 38640517
754SCN5ANM_000335.4(SCN5A): c.1960G> A (p.Glu654Lys)single nucleotide variantPathogenicrs199473138GRCh37Chr 3, 38640472: 38640472
755SCN5ANM_000335.4(SCN5A): c.2018T> C (p.Leu673Pro)single nucleotide variantPathogenicrs199473141GRCh37Chr 3, 38640414: 38640414
756SCN5ANM_000335.4(SCN5A): c.2065C> T (p.Arg689Cys)single nucleotide variantPathogenicrs199473580GRCh37Chr 3, 38639417: 38639417
757SCN5ANM_000335.4(SCN5A): c.2071G> A (p.Ala691Thr)single nucleotide variantPathogenicrs199473146GRCh37Chr 3, 38639411: 38639411
758SCN5ANM_000335.4(SCN5A): c.2102C> T (p.Pro701Leu)single nucleotide variantPathogenicrs199473147GRCh37Chr 3, 38639380: 38639380
759SCN5ANM_000335.4(SCN5A): c.2126G> T (p.Gly709Val)single nucleotide variantPathogenicrs199473581GRCh37Chr 3, 38639356: 38639356
760SCN5ANM_000335.4(SCN5A): c.2192C> T (p.Thr731Ile)single nucleotide variantPathogenicrs199473150GRCh37Chr 3, 38639290: 38639290
761SCN5ANM_000335.4(SCN5A): c.2249A> G (p.Gln750Arg)single nucleotide variantPathogenicrs199473152GRCh37Chr 3, 38639233: 38639233
762SCN5ANM_000335.4(SCN5A): c.2275A> T (p.Ile759Phe)single nucleotide variantPathogenicrs199473155GRCh37Chr 3, 38629052: 38629052
763SCN5ANM_000335.4(SCN5A): c.2335C> A (p.Gln779Lys)single nucleotide variantPathogenicrs199473583GRCh37Chr 3, 38628992: 38628992
764SCN5ANM_000335.4(SCN5A): c.2423G> C (p.Arg808Pro)single nucleotide variantPathogenicrs199473160GRCh37Chr 3, 38628904: 38628904
765SCN5ANM_000335.4(SCN5A): c.2447T> A (p.Phe816Tyr)single nucleotide variantPathogenicrs199473162GRCh37Chr 3, 38627522: 38627522
766SCN5ANM_000335.4(SCN5A): c.2518G> C (p.Gly840Arg)single nucleotide variantPathogenicrs199473585GRCh37Chr 3, 38627451: 38627451
767SCN5ANM_000335.4(SCN5A): c.2527A> G (p.Thr843Ala)single nucleotide variantPathogenicrs199473165GRCh37Chr 3, 38627442: 38627442
768SCN5ANM_000335.4(SCN5A): c.2542A> T (p.Ile848Phe)single nucleotide variantPathogenicrs199473166GRCh37Chr 3, 38627427: 38627427
769SCN5ANM_000335.4(SCN5A): c.26G> T (p.Gly9Val)single nucleotide variantPathogenicrs199473043GRCh37Chr 3, 38674773: 38674773
770SCN5ANM_000335.4(SCN5A): c.2878C> A (p.Gln960Lys)single nucleotide variantPathogenicrs199473590GRCh37Chr 3, 38622772: 38622772
771SCN5ANM_000335.4(SCN5A): c.2894G> T (p.Arg965Leu)single nucleotide variantPathogenicrs199473181GRCh37Chr 3, 38622756: 38622756
772SCN5ANM_000335.4(SCN5A): c.2942G> T (p.Cys981Phe)single nucleotide variantPathogenicrs199473591GRCh37Chr 3, 38622708: 38622708
773SCN5ANM_000335.4(SCN5A): c.3010T> C (p.Cys1004Arg)single nucleotide variantPathogenicrs199473183GRCh37Chr 3, 38622640: 38622640
774SCN5ANM_000335.4(SCN5A): c.3098A> G (p.Gln1033Arg)single nucleotide variantLikely pathogenicrs199473641GRCh37Chr 3, 38622552: 38622552
775SCN5ANM_000335.4(SCN5A): c.310C> G (p.Arg104Gly)single nucleotide variantPathogenicrs199473055GRCh37Chr 3, 38671884: 38671884
776SCN5ANM_000335.4(SCN5A): c.3206C> T (p.Thr1069Met)single nucleotide variantPathogenicrs199473187GRCh37Chr 3, 38622444: 38622444
777SCN5ANM_000335.4(SCN5A): c.3233C> T (p.Ser1078Phe)single nucleotide variantPathogenicrs199473188GRCh37Chr 3, 38620979: 38620979
778SCN5ANM_000335.4(SCN5A): c.3296C> T (p.Ala1099Val)single nucleotide variantPathogenicrs199473192GRCh37Chr 3, 38620916: 38620916
779SCN5ANM_000335.4(SCN5A): c.3337G> A (p.Asp1113Asn)single nucleotide variantPathogenicrs199473195GRCh37Chr 3, 38620875: 38620875
780SCN5ANM_000335.4(SCN5A): c.337G> A (p.Val113Ile)single nucleotide variantPathogenicrs199473555GRCh37Chr 3, 38671857: 38671857
781SCN5ANM_000335.4(SCN5A): c.3410A> C (p.Glu1137Ala)single nucleotide variantPathogenicrs199473198GRCh37Chr 3, 38618250: 38618250
782SCN5ANM_000335.4(SCN5A): c.343A> G (p.Ser115Gly)single nucleotide variantPathogenicrs199473057GRCh37Chr 3, 38671851: 38671851
783SCN5ANM_000335.4(SCN5A): c.3493G> A (p.Asp1165Asn)single nucleotide variantPathogenicrs199473594GRCh37Chr 3, 38618167: 38618167
784SCN5ANM_000335.4(SCN5A): c.3520C> T (p.Arg1174Cys)single nucleotide variantPathogenicrs199473200GRCh37Chr 3, 38616931: 38616931
785SCN5ANM_000335.4(SCN5A): c.3553G> A (p.Ala1185Thr)single nucleotide variantPathogenicrs199473595GRCh37Chr 3, 38616898: 38616898
786SCN5ANM_000335.4(SCN5A): c.3557C> T (p.Pro1186Leu)single nucleotide variantPathogenicrs199473201GRCh37Chr 3, 38616894: 38616894
787SCN5ANM_000335.4(SCN5A): c.3593A> C (p.Tyr1198Ser)single nucleotide variantPathogenicrs199473202GRCh37Chr 3, 38616858: 38616858
788SCN5ANM_000335.4(SCN5A): c.3670G> A (p.Glu1224Lys)single nucleotide variantPathogenicrs199473204GRCh37Chr 3, 38608067: 38608067
789SCN5ANM_000335.4(SCN5A): c.3688G> A (p.Glu1230Lys)single nucleotide variantPathogenicrs199473598GRCh37Chr 3, 38608049: 38608049
790SCN5ANM_000335.4(SCN5A): c.3719A> C (p.Tyr1240Ser)single nucleotide variantPathogenicrs199473212GRCh37Chr 3, 38608018: 38608018
791SCN5ANM_000335.4(SCN5A): c.373G> C (p.Val125Leu)single nucleotide variantPathogenicrs199473059GRCh37Chr 3, 38671821: 38671821
792SCN5ANM_000335.4(SCN5A): c.3830T> A (p.Ile1277Asn)single nucleotide variantPathogenicrs199473215GRCh37Chr 3, 38607907: 38607907
793SCN5ANM_000335.4(SCN5A): c.3844C> A (p.Leu1282Met)single nucleotide variantPathogenicrs199473216GRCh37Chr 3, 38604022: 38604022
794SCN5ANM_000335.4(SCN5A): c.3880G> A (p.Glu1294Lys)single nucleotide variantPathogenicrs199473218GRCh37Chr 3, 38603986: 38603986
795SCN5ANM_000335.4(SCN5A): c.3908C> T (p.Thr1303Met)single nucleotide variantPathogenicrs199473603GRCh37Chr 3, 38603958: 38603958
796SCN5ANM_000335.4(SCN5A): c.3973G> T (p.Ala1325Ser)single nucleotide variantPathogenicrs199473222GRCh37Chr 3, 38601907: 38601907
797SCN5ANM_000335.4(SCN5A): c.3982G> A (p.Gly1328Ser)single nucleotide variantPathogenicrs199473223GRCh37Chr 3, 38601898: 38601898
798SCN5ANM_000335.4(SCN5A): c.3985G> A (p.Ala1329Thr)single nucleotide variantPathogenicrs199473224GRCh37Chr 3, 38601895: 38601895
799SCN5ANM_000335.4(SCN5A): c.3985G> C (p.Ala1329Pro)single nucleotide variantPathogenicrs199473224GRCh37Chr 3, 38601895: 38601895
800SCN5ANM_000335.4(SCN5A): c.3995C> A (p.Ser1332Tyr)single nucleotide variantPathogenicrs199473604GRCh37Chr 3, 38601885: 38601885
801SCN5ANM_000335.4(SCN5A): c.3997A> G (p.Ile1333Val)single nucleotide variantPathogenicrs199473226GRCh37Chr 3, 38601883: 38601883
802SCN5ANM_000335.4(SCN5A): c.4009C> G (p.Leu1337Val)single nucleotide variantPathogenicrs199473227GRCh37Chr 3, 38601871: 38601871
803SCN5ANM_000335.4(SCN5A): c.4293G> C (p.Arg1431Ser)single nucleotide variantPathogenicrs199473246GRCh37Chr 3, 38598725: 38598725
804SCN5ANM_000335.4(SCN5A): c.4370C> A (p.Ser1457Tyr)single nucleotide variantPathogenicrs199473253GRCh37Chr 3, 38597996: 38597996
805SCN5ANM_000335.4(SCN5A): c.4412A> G (p.Asn1471Ser)single nucleotide variantPathogenicrs199473255GRCh37Chr 3, 38597954: 38597954
806SCN5ANM_000335.4(SCN5A): c.4415T> C (p.Phe1472Ser)single nucleotide variantPathogenicrs199473256GRCh37Chr 3, 38597951: 38597951
807SCN5ANM_000335.4(SCN5A): c.4415T> G (p.Phe1472Cys)single nucleotide variantPathogenicrs199473256GRCh37Chr 3, 38597951: 38597951
808SCN5ANM_000335.4(SCN5A): c.4439G> A (p.Gly1480Glu)single nucleotide variantPathogenicrs199473257GRCh37Chr 3, 38597247: 38597247
809SCN5ANM_000335.4(SCN5A): c.4456A> C (p.Met1486Leu)single nucleotide variantPathogenicrs199473258GRCh37Chr 3, 38597230: 38597230
810SCN5ANM_000335.4(SCN5A): c.4460C> G (p.Thr1487Arg)single nucleotide variantPathogenicrs199473259GRCh37Chr 3, 38597226: 38597226
811SCN5ANM_000335.4(SCN5A): c.4464G> T (p.Glu1488Asp)single nucleotide variantPathogenicrs199473616GRCh37Chr 3, 38597222: 38597222
812SCN5ANM_000335.4(SCN5A): c.4475A> G (p.Lys1492Arg)single nucleotide variantPathogenicrs199473260GRCh37Chr 3, 38597211: 38597211
813SCN5ANM_000335.4(SCN5A): c.4481A> C (p.Tyr1494Ser)single nucleotide variantPathogenicrs199473262GRCh37Chr 3, 38597205: 38597205
814SCN5ANM_000335.4(SCN5A): c.4489A> G (p.Met1497Val)single nucleotide variantPathogenicrs199473264GRCh37Chr 3, 38597197: 38597197
815SCN5ANM_000335.4(SCN5A): c.4490T> C (p.Met1497Thr)single nucleotide variantPathogenicrs199473263GRCh37Chr 3, 38597196: 38597196
816SCN5ANM_000335.4(SCN5A): c.4497G> T (p.Lys1499Asn)single nucleotide variantPathogenicrs199473265GRCh37Chr 3, 38597189: 38597189
817SCN5ANM_000335.4(SCN5A): c.4504T> C (p.Ser1502Pro)single nucleotide variantLikely pathogenicrs199473342GRCh37Chr 3, 38597182: 38597182
818SCN5ANM_000335.4(SCN5A): c.4512G> T (p.Lys1504Asn)single nucleotide variantPathogenicrs199473268GRCh37Chr 3, 38597174: 38597174
819SCN5ANM_000335.4(SCN5A): c.4591G> A (p.Val1531Ile)single nucleotide variantPathogenicrs199473618GRCh37Chr 3, 38595989: 38595989
820SCN5ANM_000335.4(SCN5A): c.4677G> C (p.Leu1559Phe)single nucleotide variantPathogenicrs199473619GRCh37Chr 3, 38595903: 38595903
821SCN5ANM_000335.4(SCN5A): c.4776C> G (p.Ile1592Met)single nucleotide variantPathogenicrs199473276GRCh37Chr 3, 38595804: 38595804
822SCN5ANM_000335.4(SCN5A): c.4778T> C (p.Phe1593Ser)single nucleotide variantPathogenicrs199473277GRCh37Chr 3, 38595802: 38595802
823SCN5ANM_000335.4(SCN5A): c.4783T> A (p.Phe1595Ile)single nucleotide variantPathogenicrs199473278GRCh37Chr 3, 38595797: 38595797
824SCN5ANM_000335.4(SCN5A): c.4786G> A (p.Val1596Met)single nucleotide variantPathogenicrs199473279GRCh37Chr 3, 38595794: 38595794
825SCN5ANM_000335.4(SCN5A): c.4823C> G (p.Ser1608Trp)single nucleotide variantPathogenicrs199473622GRCh37Chr 3, 38593037: 38593037
826SCN5ANM_000335.4(SCN5A): c.4865G> T (p.Arg1622Leu)single nucleotide variantPathogenicrs137854600GRCh37Chr 3, 38592995: 38592995
827SCN5ANM_000335.4(SCN5A): c.4874G> A (p.Arg1625His)single nucleotide variantPathogenicrs199473283GRCh37Chr 3, 38592986: 38592986
828SCN5ANM_000335.4(SCN5A): c.4874G> C (p.Arg1625Pro)single nucleotide variantPathogenicrs199473283GRCh37Chr 3, 38592986: 38592986
829SCN5ANM_000335.4(SCN5A): c.4889G> A (p.Gly1630Asp)single nucleotide variantPathogenicrs199473285GRCh37Chr 3, 38592971: 38592971
830SCN5ANM_000335.4(SCN5A): c.4927C> T (p.Arg1643Cys)single nucleotide variantPathogenicrs199473287GRCh37Chr 3, 38592933: 38592933
831SCN5ANM_000335.4(SCN5A): c.4931C> T (p.Thr1644Met)single nucleotide variantPathogenicrs199473288GRCh37Chr 3, 38592929: 38592929
832SCN5ANM_000335.4(SCN5A): c.4945C> T (p.Leu1649Phe)single nucleotide variantPathogenicrs199473290GRCh37Chr 3, 38592915: 38592915
833SCN5ANM_000335.4(SCN5A): c.4952T> C (p.Met1651Thr)single nucleotide variantPathogenicrs199473291GRCh37Chr 3, 38592908: 38592908
834SCN5ANM_000335.4(SCN5A): c.4952T> G (p.Met1651Arg)single nucleotide variantPathogenicrs199473291GRCh37Chr 3, 38592908: 38592908
835SCN5ANM_000335.4(SCN5A): c.4996G> A (p.Val1666Ile)single nucleotide variantPathogenicrs199473293GRCh37Chr 3, 38592864: 38592864
836SCN5ANM_000335.4(SCN5A): c.5165C> A (p.Thr1722Asn)single nucleotide variantPathogenicrs199473300GRCh37Chr 3, 38592695: 38592695
837SCN5ANM_000335.4(SCN5A): c.5171C> T (p.Pro1724Leu)single nucleotide variantPathogenicrs199473301GRCh37Chr 3, 38592689: 38592689
838SCN5ANM_000335.4(SCN5A): c.5212C> T (p.Arg1738Trp)single nucleotide variantPathogenicrs199473303GRCh37Chr 3, 38592648: 38592648
839SCN5ANM_000335.4(SCN5A): c.5233G> A (p.Ala1745Thr)single nucleotide variantPathogenicrs199473306GRCh37Chr 3, 38592627: 38592627
840SCN5ANM_000335.4(SCN5A): c.5236G> A (p.Val1746Met)single nucleotide variantPathogenicrs199473630GRCh37Chr 3, 38592624: 38592624
841SCN5ANM_000335.4(SCN5A): c.5278C> T (p.Leu1760Phe)single nucleotide variantPathogenicrs199473307GRCh37Chr 3, 38592582: 38592582
842SCN5ANM_000335.4(SCN5A): c.5279T> A (p.Leu1760His)single nucleotide variantPathogenicrs199473308GRCh37Chr 3, 38592581: 38592581
843SCN5ANM_000335.4(SCN5A): c.5284G> A (p.Val1762Met)single nucleotide variantPathogenicrs199473631GRCh37Chr 3, 38592576: 38592576
844SCN5ANM_000335.4(SCN5A): c.528T> G (p.Ile176Met)single nucleotide variantPathogenicrs199473064GRCh37Chr 3, 38662417: 38662417
845SCN5ANM_000335.4(SCN5A): c.5293A> C (p.Met1765Leu)single nucleotide variantPathogenicrs199473310GRCh37Chr 3, 38592567: 38592567
846SCN5ANM_000335.4(SCN5A): c.5297A> G (p.Tyr1766Cys)single nucleotide variantPathogenicrs199473632GRCh37Chr 3, 38592563: 38592563
847SCN5ANM_000335.4(SCN5A): c.5299A> G (p.Ile1767Val)single nucleotide variantPathogenicrs199473311GRCh37Chr 3, 38592561: 38592561
848SCN5ANM_000335.4(SCN5A): c.5311C> G (p.Leu1771Val)single nucleotide variantPathogenicrs199473312GRCh37Chr 3, 38592549: 38592549
849SCN5ANM_000335.4(SCN5A): c.5317A> G (p.Asn1773Asp)single nucleotide variantPathogenicrs199473633GRCh37Chr 3, 38592543: 38592543
850SCN5ANM_000335.4(SCN5A): c.5326G> A (p.Val1776Met)single nucleotide variantPathogenicrs199473314GRCh37Chr 3, 38592534: 38592534
851SCN5ANM_000335.4(SCN5A): c.5354T> A (p.Leu1785Gln)single nucleotide variantPathogenicrs199473315GRCh37Chr 3, 38592506: 38592506
852SCN5ANM_000335.4(SCN5A): c.5366A> G (p.Asp1789Gly)single nucleotide variantPathogenicrs199473317GRCh37Chr 3, 38592494: 38592494
853SCN5ANM_000335.4(SCN5A): c.5402A> G (p.Asp1801Gly)single nucleotide variantPathogenicrs199473318GRCh37Chr 3, 38592458: 38592458
854SCN5ANM_000335.4(SCN5A): c.5467C> G (p.Pro1823Ala)single nucleotide variantPathogenicrs199473319GRCh37Chr 3, 38592393: 38592393
855SCN5ANM_000335.4(SCN5A): c.5513A> G (p.Asp1838Gly)single nucleotide variantPathogenicrs199473321GRCh37Chr 3, 38592347: 38592347
856SCN5ANM_000335.4(SCN5A): c.553G> A (p.Ala185Thr)single nucleotide variantPathogenicrs192113333GRCh37Chr 3, 38662392: 38662392
857SCN5ANM_000335.4(SCN5A): c.568C> G (p.Arg190Gly)single nucleotide variantPathogenicrs199473068GRCh37Chr 3, 38662377: 38662377
858SCN5ANM_000335.4(SCN5A): c.569G> A (p.Arg190Gln)single nucleotide variantPathogenicrs199473069GRCh37Chr 3, 38662376: 38662376
859SCN5ANM_000335.4(SCN5A): c.5698G> C (p.Glu1900Gln)single nucleotide variantPathogenicrs199473325GRCh37Chr 3, 38592162: 38592162
860SCN5ANM_000335.4(SCN5A): c.5723A> G (p.Gln1908Arg)single nucleotide variantPathogenicrs199473326GRCh37Chr 3, 38592137: 38592137
861SCN5ANM_000335.4(SCN5A): c.5735G> A (p.Arg1912His)single nucleotide variantPathogenicrs199473327GRCh37Chr 3, 38592125: 38592125
862SCN5ANM_000335.4(SCN5A): c.5842G> T (p.Ala1948Ser)single nucleotide variantPathogenicrs199473330GRCh37Chr 3, 38592018: 38592018
863SCN5ANM_000335.4(SCN5A): c.5926T> A (p.Tyr1976Asn)single nucleotide variantPathogenicrs199473334GRCh37Chr 3, 38591934: 38591934
864SCN5ANM_000335.4(SCN5A): c.6007T> G (p.Phe2003Val)single nucleotide variantPathogenicrs41311117GRCh37Chr 3, 38591853: 38591853
865SCN5ANM_000335.4(SCN5A): c.6014C> G (p.Pro2005Arg)single nucleotide variantPathogenicrs199473338GRCh37Chr 3, 38591846: 38591846
866SCN5ANM_000335.4(SCN5A): c.6031C> T (p.Arg2011Cys)single nucleotide variantPathogenicrs199473640GRCh37Chr 3, 38591829: 38591829
867SCN5ANM_000335.4(SCN5A): c.635T> C (p.Leu212Pro)single nucleotide variantLikely pathogenic, Pathogenicrs199473070GRCh37Chr 3, 38655302: 38655302
868SCN5ANM_000335.4(SCN5A): c.673C> T (p.Arg225Trp)single nucleotide variantPathogenicrs199473072GRCh37Chr 3, 38655264: 38655264
869SCN5ANM_000335.4(SCN5A): c.674G> A (p.Arg225Gln)single nucleotide variantPathogenicrs199473071GRCh37Chr 3, 38655263: 38655263
870SCN5ANM_000335.4(SCN5A): c.715A> G (p.Ile239Val)single nucleotide variantPathogenicrs199473075GRCh37Chr 3, 38651444: 38651444
871SCN5ANM_000335.4(SCN5A): c.733C> A (p.Gln245Lys)single nucleotide variantPathogenicrs199473077GRCh37Chr 3, 38651426: 38651426
872SCN5ANM_000335.4(SCN5A): c.739G> C (p.Val247Leu)single nucleotide variantPathogenicrs199473078GRCh37Chr 3, 38651420: 38651420
873SCN5ANM_000335.4(SCN5A): c.80G> A (p.Arg27His)single nucleotide variantPathogenicrs199473045GRCh37Chr 3, 38674719: 38674719
874SCN5ANM_000335.4(SCN5A): c.825C> A (p.Asn275Lys)single nucleotide variantPathogenicrs199473080GRCh37Chr 3, 38651334: 38651334
875SCN5ANM_000335.4(SCN5A): c.865G> A (p.Gly289Ser)single nucleotide variantPathogenicrs199473084GRCh37Chr 3, 38651294: 38651294
876SCN5ANM_000335.4(SCN5A): c.89A> G (p.Glu30Gly)single nucleotide variantPathogenicrs199473551GRCh37Chr 3, 38674710: 38674710
877KCNQ1NM_000218.2(KCNQ1): c.925A> T (p.Thr309Ser)single nucleotide variantPathogenicrs199473468GRCh37Chr 11, 2604668: 2604668
878KCNJ2NM_000891.2(KCNJ2): c.212A> T (p.Asp71Val)single nucleotide variantPathogenicrs104894575GRCh37Chr 17, 68171392: 68171392
879KCNJ2NM_000891.2(KCNJ2): c.652C> T (p.Arg218Trp)single nucleotide variantPathogenicrs104894578GRCh37Chr 17, 68171832: 68171832
880KCNJ2NM_000891.2(KCNJ2): c.899G> T (p.Gly300Val)single nucleotide variantPathogenicrs104894579GRCh37Chr 17, 68172079: 68172079
881KCNJ2NM_000891.2(KCNJ2): c.199C> T (p.Arg67Trp)single nucleotide variantPathogenicrs104894580GRCh37Chr 17, 68171379: 68171379
882KCNJ2NM_000891.2(KCNJ2): c.557C> T (p.Pro186Leu)single nucleotide variantPathogenicrs104894581GRCh37Chr 17, 68171737: 68171737
883KCNJ2NM_000891.2(KCNJ2): c.904G> A (p.Val302Met)single nucleotide variantPathogenicrs104894582GRCh37Chr 17, 68172084: 68172084
884KCNJ2NM_000891.2(KCNJ2): c.646A> C (p.Asn216His)single nucleotide variantPathogenicrs104894583GRCh37Chr 17, 68171826: 68171826
885KCNJ2NM_000891.2(KCNJ2): c.224C> G (p.Thr75Arg)single nucleotide variantPathogenicrs104894585GRCh37Chr 17, 68171404: 68171404
886SCN5ANM_000335.4(SCN5A): c.4928G> A (p.Arg1643His)single nucleotide variantPathogenicrs28937316GRCh37Chr 3, 38592932: 38592932
887SCN5ANM_000335.4(SCN5A): c.3971A> G (p.Asn1324Ser)single nucleotide variantPathogenicrs28937317GRCh37Chr 3, 38601909: 38601909
888SCN5ANM_000335.4(SCN5A): c.5381A> G (p.Tyr1794Cys)single nucleotide variantPathogenicrs137854614GRCh37Chr 3, 38592479: 38592479
889SCN5ANM_000335.4(SCN5A): c.4865G> A (p.Arg1622Gln)single nucleotide variantPathogenicrs137854600GRCh37Chr 3, 38592995: 38592995
890SCN5ANM_000335.4(SCN5A): c.5347G> A (p.Glu1783Lys)single nucleotide variantPathogenicrs137854601GRCh37Chr 3, 38592513: 38592513
891SCN5ANM_000335.4(SCN5A): c.2989G> T (p.Ala997Ser)single nucleotide variantPathogenicrs137854609GRCh37Chr 3, 38622661: 38622661
892SCN5ANM_000335.4(SCN5A): c.5474G> A (p.Arg1825His)single nucleotide variantPathogenicrs137854610GRCh37Chr 3, 38592386: 38592386
893SCN5ANM_000335.4(SCN5A): c.3157G> A (p.Glu1053Lys)single nucleotide variantPathogenicrs137854617GRCh37Chr 3, 38622493: 38622493
894SCN5ANM_000335.4(SCN5A): c.5452G> A (p.Asp1818Asn)single nucleotide variantPathogenicrs137854619GRCh37Chr 3, 38592408: 38592408

Expression for genes affiliated with Long Qt Syndrome

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Search GEO for disease gene expression data for Long Qt Syndrome.

Pathways for genes affiliated with Long Qt Syndrome

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Pathways related to Long Qt Syndrome according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1ANK2, SCN5A
2
Show member pathways
10.0KCNJ2, KCNJ5
3
Show member pathways
9.9KCNJ2, KCNE2, KCNQ1
4
Show member pathways
9.5RYR2, KCNJ2, KCNJ5
58.9KCNE1, KCNQ1, SCN4B, SCN5A, MYH7, RYR2
6
Show member pathways
8.7KCNJ5, KCNH2, KCNJ2, KCNE1, KCNQ1, KCND2
7
Show member pathways
8.6KCNJ5, KCNH2, KCNJ2, KCNQ1, KCND2, KCND3
8
Show member pathways
8.5RYR2, NOS1AP, KCND2, KCNQ1, KCNJ2, KCNJ5
98.3KCNH2, KCNQ1, SCN4B, SCN5A, SNTA1, CAV3
108.2KCNJ5, KCNH2, KCNJ2, KCNE1, KCNE2, KCNQ1
117.3RYR2, KCNJ5, KCNH2, KCNJ2, KCNE1, KCNE2

Compounds for genes affiliated with Long Qt Syndrome

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Compounds related to Long Qt Syndrome according to GeneCards Suite gene sharing:

(show all 46)
idCompoundScoreTop Affiliating Genes
1chromanol4310.5KCNQ1, KCNE1
2clofilium43 2811.5KCNQ1, KCNH2
3propafenone28 43 49 1213.5KCNH2, SCN5A
4mexiletine49 43 1212.5SCN5A, KCNH2
5indapamide43 1211.5KCNE1, KCNQ1
6chromanol 293b59 43 2812.5KCNQ1, KCNE1
7qx 314 chloride5910.4SCN4B, SCN5A
8bepridil43 28 1212.4KCNH2, KCNQ1
9tetrodotoxin citrate5910.4SCN4B, SCN5A
10phrixotoxin 35910.4SCN4B, SCN5A
11veratridine43 59 2812.3SCN4B, SCN5A
12pip22810.3KCNQ1, KCNJ5
13isoleucine4310.3KCNH2, KCNQ1, SCN5A
14cromakalim43 2811.3KCNQ1, KCNJ5
15charybdotoxin43 2811.3KCNJ5, KCNQ1
16cisapride43 28 1212.2SCN5A, KCNH2
17katp4310.2KCNJ5, KCNH2, KCNQ1
18p10755910.2KCNJ5, KCNJ2
19levcromakalim5910.2KCNJ5, KCNJ2
20tertiapin-q5910.2KCNJ5, KCNJ2
21glibenclamide43 28 49 5913.1KCNQ1, KCNJ2, KCNJ5
22repaglinide49 43 1212.1KCNQ1, KCNJ5
23flecainide49 43 28 1213.1SCN5A, KCND2, KCNH2
24tetraethylammonium43 28 1212.0KCNJ5, KCNH2, KCNJ2, KCNQ1
25mg2+2810.0KCNJ2, RYR2
26diazoxide43 59 28 1213.0KCNJ2, KCNJ5
27ryanodine43 28 5911.8RYR2, ANK2, MYH7
28amiodarone43 49 28 1212.8KCNH2, NOS1AP
29valine439.8MYH7, SCN5A, KCNH2
30verapamil43 28 49 24 1213.7KCNH2, SCN5A, NOS1AP, RYR2
31disopyramide43 1210.7KCNJ5, KCND2, KCND3, SCN5A
32phospholipid439.7KCNJ5, KCNH2, KCNE1, RYR2
33inositol 1,4,5 trisphosphate439.6AKAP9, ANK2, RYR2
34arginine439.6KCNH2, KCNJ2, KCNE1, KCNQ1, SCN5A, MYH7
35carvedilol43 49 28 1212.5RYR2, KCNH2
36e-4031 dihydrochloride599.4KCNE2, KCNQ1, KCND2, KCND3, KCNE1, KCNH2
37xe 991 dihydrochloride599.4KCNH2, KCNE1, KCNE2, KCNQ1, KCND2, KCND3
38jnj 303599.4KCND3, KCND2, KCNQ1, KCNE2, KCNE1, KCNH2
39shk-dap22599.4KCND3, KCND2, KCNQ1, KCNE2, KCNE1, KCNH2
40ica 110381599.4KCND3, KCND2, KCNH2, KCNE1, KCNE2, KCNQ1
41isoproterenol43 1210.2KCNH2, KCNJ2, KCNQ1, MYH7, CAV3, RYR2
42nitric oxide43 24 1211.0KCNJ5, KCNE1, SNTA1, CAV3, NOS1AP, RYR2
43lipid438.0KCNJ5, KCNH2, KCNE1, KCND3, MYH7, CAV3
44sodium43 248.5CAV3, SNTA1, MYH7, SCN5A, SCN4B, KCNQ1
45potassium43 24 129.4RYR2, KCNJ5, ZACN, AKAP9, SCN5A, KCND3
46calcium43 49 24 129.5KCNJ5, KCNH2, KCNJ2, KCNQ1, KCND3, SCN5A

GO Terms for genes affiliated with Long Qt Syndrome

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Cellular components related to Long Qt Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel complexGO:000151810.1SCN4B, SCN5A
2lysosomeGO:00057649.8KCNQ1, KCNE2, KCNE1
3intercalated discGO:00147049.8KCNJ2, SCN4B, SCN5A, ANK2
4T-tubuleGO:00303159.7KCNJ2, SCN5A, ANK2, CAV3
5cell surfaceGO:00099869.5KCNH2, KCNE1, KCNE2, SCN5A, CAV3
6sarcolemmaGO:00423839.3KCNQ1, KCND3, SCN5A, ANK2, SNTA1, CAV3
7sarcoplasmic reticulum membraneGO:00330179.2RYR2, SLN
8Z discGO:00300189.2KCNE1, MYH7, ANK2, CAV3, RYR2
9sarcoplasmic reticulumGO:00165298.9RYR2, SLN
10voltage-gated potassium channel complexGO:00080767.9AKAP9, KCNJ5, KCNH2, KCNJ2, KCNE1, KCNE2
11plasma membraneGO:00058866.9KCNJ5, KCNH2, KCNJ2, KCNE1, KCNE2, KCNQ1

Biological processes related to Long Qt Syndrome according to GeneCards Suite gene sharing:

(show all 41)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization during SA node cell action potentialGO:008604610.4SCN5A, ANK2
2regulation of delayed rectifier potassium channel activityGO:0190225910.4KCNE1, KCNE2
3SA node cell to atrial cardiac muscle cell communicationGO:008607010.4ANK2, SCN5A
4membrane depolarization during action potentialGO:008601010.4SCN5A, KCNH2
5AV node cell to bundle of His cell communicationGO:008606710.3SCN5A, SCN4B
6regulation of calcium ion transmembrane transporter activityGO:0190101910.3ANK2, CAV3
7T-tubule organizationGO:003329210.3ANK2, CAV3
8regulation of sodium ion transmembrane transportGO:0190230510.3SCN5A, SNTA1
9regulation of ventricular cardiac muscle cell membrane depolarizationGO:006037310.3CAV3, SCN5A
10potassium ion importGO:001010710.2KCNJ2, KCNE2
11membrane depolarization during cardiac muscle cell action potentialGO:008601210.2KCNJ2, SCN4B, SCN5A
12cellular response to drugGO:003569010.2KCNH2, KCNE2, KCNQ1
13regulation of cardiac muscle cell contractionGO:008600410.2SCN5A, ANK2
14membrane repolarizationGO:008600910.1KCNE1, KCNE2, KCND3
15regulation of sodium ion transmembrane transporter activityGO:0200064910.1SCN4B, CAV3
16protein localization to plasma membraneGO:007265910.0CAV3, ANK2
17cellular response to epinephrine stimulusGO:007187210.0RYR2, KCNQ1
18positive regulation of sodium ion transportGO:001076510.0SCN4B, SCN5A
19regulation of atrial cardiac muscle cell membrane repolarizationGO:006037210.0KCNQ1, KCNE1L, SCN5A
20atrial cardiac muscle cell action potentialGO:00860149.9ANK2, KCNE1L, KCNQ1
21membrane repolarization during action potentialGO:00860119.9KCNQ1, KCNE2, KCNE1, KCNJ2, KCNH2
22regulation of cardiac muscle contractionGO:00551179.9ANK2, CAV3, RYR2
23negative regulation of potassium ion transmembrane transportGO:019013809.9KCNH2, KCNE1L, CAV3
24cardiac muscle cell action potential involved in contractionGO:00860029.8KCNJ2, KCNE1, KCNE2, SCN4B, SCN5A
25regulation of heart contractionGO:00080169.8CAV3, KCNE1L, KCNQ1
26regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:00108819.8RYR2, ANK2
27potassium ion transportGO:00068139.8KCND3, KCNJ2, KCNJ5
28regulation of potassium ion transmembrane transportGO:019013799.8KCNH2, KCNE1, KCNE2, KCNE1L
29membrane repolarization during cardiac muscle cell action potentialGO:00860139.6KCNH2, KCNJ2, KCNE1, KCNQ1, KCNE1L
30positive regulation of potassium ion transmembrane transportGO:019013819.6KCNH2, KCNJ2, KCNE1, KCNQ1, KCNE1L
31regulation of membrane repolarizationGO:00603069.5KCNH2, KCNJ2, KCNE2, KCNQ1, KCNE1L
32sarcoplasmic reticulum calcium ion transportGO:00702969.4ANK2, SLN, RYR2
33potassium ion exportGO:00714359.3KCNH2, KCNE1, KCNE2, KCNQ1, KCNE1L, KCND3
34regulation of heart rateGO:00020279.2SCN5A, MYH7, ANK2, SNTA1, CAV3, RYR2
35regulation of calcium ion transportGO:00519249.2SLN, ANK2
36potassium ion transmembrane transportGO:00718059.1KCNJ5, KCNH2, KCNJ2, KCNE1, KCNE2, KCNQ1
37synaptic transmissionGO:00072689.0KCNJ5, KCNH2, KCNJ2, KCNQ1, KCND2, KCND3
38cardiac muscle contractionGO:00600488.9RYR2, ANK2, SCN5A, SCN4B, KCNH2, KCNQ1
39regulation of heart rate by cardiac conductionGO:00860918.8KCNH2, KCNJ2, KCNE1, KCNE2, KCNQ1, KCNE1L
40regulation of ventricular cardiac muscle cell membrane repolarizationGO:00603078.4KCNE1, KCNE2, KCNQ1, KCNE1L, SCN4B, SCN5A
41ventricular cardiac muscle cell action potentialGO:00860058.2RYR2, KCNH2, KCNE1, KCNE2, KCNQ1, KCNE1L

Molecular functions related to Long Qt Syndrome according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activity involved in cardiac muscle cell action potentialGO:008600610.2SCN5A, SCN4B
2voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:0190228210.0KCNH2, KCNE1, KCNE2, KCNQ1
3voltage-gated sodium channel activityGO:000524810.0SCN5A, SCN4B
4protein complex scaffoldGO:00329479.9CAV3, AKAP9
5A-type (transient outward) potassium channel activityGO:00052509.9KCND3, KCND2
6sodium channel regulator activityGO:00170809.9CAV3, SNTA1, SCN4B
7protein kinase A regulatory subunit bindingGO:00342379.9KCNQ1, RYR2
8protein kinase A catalytic subunit bindingGO:00342369.8RYR2, KCNQ1
9inward rectifier potassium channel activityGO:00052429.8KCNE2, KCNJ2, KCNH2, KCNJ5
10scaffold protein bindingGO:00971109.8SCN5A, KCNQ1
11nitric-oxide synthase bindingGO:00509989.7SCN5A, SNTA1, CAV3, NOS1AP
12voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:00860089.7KCNJ2, KCNE1, KCNQ1, KCNE1L
13potassium channel regulator activityGO:00154599.6KCNE1, KCNE2, KCNE1L, ANK2
14ATPase bindingGO:00511179.4ANK2, SNTA1, SLN
15calmodulin bindingGO:00055169.3KCNQ1, SCN5A, MYH7, SNTA1, RYR2
16delayed rectifier potassium channel activityGO:00052519.3KCNH2, KCNE1, KCNE2, KCNQ1, KCND2, KCND3
17voltage-gated potassium channel activityGO:00052499.3KCNH2, KCNE1, KCNQ1, KCNE1L, KCND2
18ion channel bindingGO:00443257.7RYR2, KCNE2, KCNQ1, KCNE1L, KCND3, SCN4B
19protein bindingGO:00055157.4KCNJ5, KCNH2, KCNE1, KCNQ1, KCND2, SCN5A

Products for genes affiliated with Long Qt Syndrome

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