KCNH2 (potassium voltage-gated channel subfamily H member 2) - Rat Genome Database

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Gene: KCNH2 (potassium voltage-gated channel subfamily H member 2) Homo sapiens
Analyze
Symbol: KCNH2
Name: potassium voltage-gated channel subfamily H member 2
RGD ID: 732101
HGNC Page HGNC:6251
Description: Enables several functions, including C3HC4-type RING finger domain binding activity; protein homodimerization activity; and voltage-gated potassium channel activity. Involved in several processes, including membrane repolarization during ventricular cardiac muscle cell action potential; potassium ion transmembrane transport; and regulation of potassium ion transmembrane transport. Acts upstream of or within regulation of heart rate by cardiac conduction. Located in cell surface; perinuclear region of cytoplasm; and plasma membrane. Part of inward rectifier potassium channel complex. Implicated in long QT syndrome; long QT syndrome 2; and short QT syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: eag homolog; eag-related protein 1; ERG-1; ERG1; ether-a-go-go-related gene potassium channel 1; ether-a-go-go-related potassium channel protein; ether-a-go-go-related protein 1; H-ERG; HERG; hERG-1; HERG1; human ether-a-go-go-related; Kv11.1; long QT syndrome type 2; LQT2; potassium channel, voltage gated eag related subfamily H, member 2; potassium voltage-gated channel, subfamily H (eag-related), member 2; SQT1; voltage-gated potassium channel subunit Kv11.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387150,944,961 - 150,978,321 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7150,944,961 - 150,978,321 (-)EnsemblGRCh38hg38GRCh38
GRCh377150,642,049 - 150,675,409 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367150,272,982 - 150,305,947 (-)NCBINCBI36Build 36hg18NCBI36
Build 347150,079,696 - 150,090,563NCBI
Celera7145,199,077 - 145,232,050 (-)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7144,454,320 - 144,487,268 (-)NCBIHuRef
CHM1_17150,650,401 - 150,683,838 (-)NCBICHM1_1
T2T-CHM13v2.07152,117,824 - 152,151,201 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27149,971,333 - 150,004,698 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-butaclamol  (EXP)
(-)-lobeline  (EXP)
(R,R,R)-alpha-tocopherol  (EXP)
(S)-duloxetine hydrochloride  (EXP)
(S)-naringenin  (EXP)
(S)-nicotine  (ISO)
(Z)-chlorprothixene  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,3-bis(2-ethylhexyl)-5-methyl-1,3-diazinan-5-amine  (EXP)
1,3-diphenylguanidine  (EXP)
1-(4-chlorophenyl)-4-(dimethylamino)-2,3-dimethyl-2-butanol  (EXP)
1-[10-[3-[4-(2-hydroxyethyl)-1-piperidinyl]propyl]-2-phenothiazinyl]ethanone  (EXP)
1-[2-[(4-chlorophenyl)-phenylmethoxy]ethyl]piperidine  (EXP)
1-phenyl-1-cyclopentanecarboxylic acid 2-[2-(diethylamino)ethoxy]ethyl ester  (EXP)
10H-phenothiazine  (EXP)
17alpha-ethynylestradiol  (ISO)
2,2-diphenylacetic acid (1-ethyl-3-piperidinyl) ester  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
2-[(3-butyl-1-isoquinolinyl)oxy]-N,N-dimethylethanamine  (EXP)
2-[2-(diethylamino)ethylamino]-2-phenylacetic acid 3-methylbutyl ester  (EXP)
2-[4-[3-[2-(trifluoromethyl)-9-thioxanthenylidene]propyl]-1-piperazinyl]ethanol  (EXP)
2-[4-[4,4-bis(4-fluorophenyl)butyl]-1-piperazinyl]-N-(2,6-dimethylphenyl)acetamide  (EXP)
2-deoxy-D-glucose  (EXP)
2-hydroxy-2,2-diphenylacetic acid 2-(diethylamino)ethyl ester  (EXP)
2-hydroxybenzoic acid (3,3,5-trimethylcyclohexyl) ester  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3-diphenyl-N-(1-phenylethyl)-1-propanamine  (EXP)
3,4-dimethoxybenzoic acid 4-[ethyl-[1-(4-methoxyphenyl)propan-2-yl]amino]butyl ester  (EXP)
3,6-diaminoacridine  (EXP)
3-[1-[4-(4-fluorophenyl)-4-oxobutyl]-4-piperidinyl]-1H-benzimidazol-2-one  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-[1-hydroxy-2-[4-(phenylmethyl)-1-piperidinyl]propyl]phenol  (EXP)
4-amino-5-chloro-2-methoxy-N-[1-(phenylmethyl)-4-piperidinyl]benzamide  (EXP)
4-amino-5-chloro-N-[1-[3-(4-fluorophenoxy)propyl]-3-methoxy-4-piperidinyl]-2-methoxybenzamide  (EXP)
4-aminopyridine  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-chloro-5-(2,3-dichlorophenoxy)-2-(methylthio)-1H-benzimidazole  (EXP)
7H-xanthine  (EXP)
9H-xanthine  (EXP)
[2,8-bis(trifluoromethyl)quinolin-4-yl]-(2-piperidyl)methanol  (EXP)
acetylmethadol  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
ajmaline  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpidem  (EXP)
alverine  (EXP)
amantadine  (EXP)
amiodarone  (EXP,ISO)
amitriptyline  (EXP)
ammonium chloride  (ISO)
Ammothamnine  (EXP)
amorolfine  (EXP)
amperozide  (EXP)
amphetamine  (ISO)
amsacrine  (EXP)
aprindine  (EXP)
aripiprazole  (EXP)
aristolochic acid A  (EXP)
Arkin (TN)  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
astemizole  (EXP,ISO)
atorvastatin calcium  (ISO)
ATP  (EXP)
atrazine  (EXP)
azaperone  (EXP)
Azaspiracid  (EXP)
azelastine  (EXP)
Azimilide  (EXP)
Balofloxacin  (EXP)
benzalkonium chloride  (EXP)
benzatropine  (EXP)
benzethonium chloride  (EXP)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
benzoic acid 2-[1-[3-(trifluoromethyl)phenyl]propan-2-ylamino]ethyl ester  (EXP)
benzydamine  (EXP)
bepridil  (EXP)
berberine  (ISO)
betahistine  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bopindolol  (EXP)
brefeldin A  (EXP)
bromhexine  (EXP)
Bromocyclen  (EXP)
Bromperidol  (EXP)
brompheniramine  (EXP)
buclizine  (EXP)
buta-1,3-diene  (ISO)
butanal  (EXP)
butoconazole  (EXP)
C3-thiacarbocyanine cation  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
cantharidin  (ISO)
carbachol  (EXP)
carbinoxamine  (EXP)
carmustine  (EXP)
carvedilol  (EXP)
casticin  (ISO)
cefotetan  (EXP)
cepharanthine  (EXP)
cetalkonium chloride  (EXP)
CGP 52608  (EXP)
chloramine T  (EXP)
chlordecone  (ISO)
chlorobutanol  (EXP)
chloroform  (EXP)
chlorphenamine  (EXP)
chlorpromazine  (EXP)
chlorpyrifos  (ISO)
cholesterol  (ISO)
cibenzoline  (EXP)
ciclopirox  (EXP)
cinacalcet  (EXP)
cinchocaine  (EXP)
cinchonine  (EXP)
ciprofloxacin  (EXP)
cisapride  (EXP)
cisplatin  (EXP)
clarithromycin  (EXP)
clemastine  (EXP)
clofazimine  (EXP)
clofedanol  (EXP)
clomipramine  (EXP)
clopenthixol  (EXP)
clorotepine  (EXP)
Clotiapine  (EXP)
clotrimazole  (EXP)
clozapine  (EXP)
cobalt dichloride  (EXP)
codeine  (EXP)
colforsin daropate hydrochloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (ISO)
crizotinib  (EXP)
crystal violet  (EXP)
curcumin  (EXP)
cyamemazine  (EXP)
cyclosporin A  (EXP)
D-glucose  (EXP,ISO)
Danofloxacin  (EXP)
dantrolene  (EXP)
darifenacin  (EXP)
daunorubicin  (EXP)
DDT  (EXP)
denopamine  (EXP)
deptropine  (EXP)
desipramine  (EXP)
desloratadine  (EXP)
desmethylastemizole  (EXP)
dexbrompheniramine  (EXP)
dexetimide  (EXP)
dextran sulfate  (ISO)
dextromethorphan  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
Didecyldimethylammonium  (EXP)
difloxacin  (EXP)
digoxin  (EXP)
dimethyl-(phenylmethyl)-[2-[2-[4-(2,4,4-trimethylpentan-2-yl)phenoxy]ethoxy]ethyl]ammonium  (EXP)
dioxygen  (ISO)
diphenylpyraline  (EXP)
dipyridamole  (EXP)
disopyramide  (EXP)
dithiazanine  (EXP)
dobutamine  (EXP)
dofetilide  (EXP)
dolasetron  (EXP)
Domiphen bromide  (EXP)
domperidone  (EXP)
doxepin  (EXP)
doxorubicin  (EXP,ISO)
dronedarone  (EXP)
droperidol  (EXP)
dutasteride  (EXP)
dyclonine  (EXP)
E-4031  (EXP,ISO)
Ebastine  (EXP)
Eburnamonine  (EXP)
econazole  (EXP)
eletriptan  (EXP)
eliprodil  (EXP)
emedastine  (EXP)
endosulfan  (ISO)
enoxacin  (EXP)
enrofloxacin  (EXP)
epinastine  (EXP)
erlotinib hydrochloride  (EXP)
erythromycin A  (EXP)
ethanol  (ISO)
ezogabine  (EXP)
Febantel  (EXP)
fenoverine  (EXP)
fentanyl  (EXP)
Fexofenadine hydrochloride  (EXP)
fingolimod hydrochloride  (EXP)
flavonoids  (ISO)
flecainide  (EXP)
fleroxacin  (EXP)
flufenamic acid  (EXP)
fluorescein (lactone form)  (EXP)
fluoxetine  (EXP)
flupenthixol  (EXP)
flurazepam  (EXP)
fluvoxamine  (EXP)
fomocaine  (EXP)
formoterol fumarate  (EXP)
fulvestrant  (EXP)
gabapentin  (EXP)
gatifloxacin  (EXP)
geldanamycin  (EXP)
gentamycin  (ISO)
ginsenoside Rb1  (EXP)
ginsenoside Rf  (EXP)
ginsenoside Rg1  (EXP)
glucose  (EXP,ISO)
glyburide  (EXP)
Grepafloxacin  (EXP)
Halofantrine  (EXP)
haloperidol  (EXP)
hydrogen peroxide  (EXP)
hydroxychloroquine  (EXP)
hydroxyzine  (EXP)
ibogaine  (EXP)
ICI 118551  (EXP)
idarubicin  (EXP)
imipramine  (EXP,ISO)
ipriflavone  (EXP)
isoconazole  (EXP)
ivabradine  (EXP)
ketoconazole  (EXP)
lamotrigine  (EXP)
lidocaine  (EXP)
Liranaftate  (EXP)
lofepramine  (EXP)
lomefloxacin  (EXP)
loratadine  (EXP)
lovastatin  (EXP)
loxapine  (EXP)
lubeluzole  (EXP)
malachite green cation  (EXP)
manidipine  (EXP)
Maprotiline  (EXP)
Mebhydrolin napadisilate  (EXP)
mefloquine  (EXP)
mepyramine  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
mesoridazine  (EXP)
methadone  (EXP)
methapyrilene  (EXP)
methdilazine  (EXP)
methiothepin  (EXP)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
metixene  (EXP)
metoclopramide  (EXP)
metoprolol  (EXP)
mexiletine  (EXP)
Mibefradil  (EXP)
miconazole  (EXP)
mitoxantrone  (EXP)
Mitragynine  (EXP)
Mizolastine  (EXP)
moxifloxacin  (EXP)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methyl-4-[2-(phenylmethyl)phenoxy]-1-butanamine  (EXP)
nadifloxacin  (EXP)
naftifine  (EXP)
nefazodone  (EXP)
nicotine  (ISO)
Nifekalant  (EXP)
Niflumic acid  (EXP)
Niguldipine  (EXP)
nilotinib  (EXP)
nimesulide  (EXP)
nimodipine  (ISO)
Nitrovin  (EXP)
norfloxacin  (EXP)
Norfluoxetine  (EXP)
nortriptyline  (EXP)
ofloxacin  (EXP)
olanzapine  (EXP)
oligomycin B  (EXP)
Orbifloxacin  (EXP)
ouabain  (EXP)
oxeladin  (EXP)
oxiconazole  (EXP)
oxybuprocaine  (EXP)
Oxyphencyclimine  (EXP)
paliperidone palmitate  (EXP)
palonosetron  (EXP)
Panaxadiol  (EXP)
Panaxatriol  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
parathiazine  (EXP)
pecazine  (EXP)
pefloxacin  (EXP)
pentamidine  (EXP)
pentanal  (EXP)
pentobarbital  (EXP)
perfluorooctanoic acid  (EXP)
perhexiline  (EXP)
periciazine  (EXP)
perphenazine  (EXP)
phentolamine  (EXP)
phenylephrine  (EXP)
phenytoin  (EXP)
pimobendan  (EXP)
pimozide  (EXP)
pizotifen  (EXP)
potassium atom  (EXP)
Prenylamine  (EXP)
pridinol  (EXP)
probucol  (EXP)
procainamide  (EXP)
profenamine  (EXP)
progesterone  (ISO)
promazine  (EXP)
propafenone  (EXP)
propanal  (EXP)
propranolol  (EXP)
pyridine  (EXP)
pyruvic acid  (EXP)
pyrvinium  (EXP)
quetiapine fumarate  (EXP)
quifenadine  (EXP)
quinacrine  (EXP)
quinidine  (EXP)
quinine  (EXP)
ractopamine  (EXP)
radicicol  (EXP)
ranolazine  (EXP)
reactive oxygen species  (EXP)
rescinnamine  (EXP)
reserpine  (EXP)
resveratrol  (EXP)
risperidone  (EXP)
ritanserin  (EXP)
Robenidine  (EXP)
rolipram  (EXP)
rose bengal  (EXP)
rosuvastatin calcium  (EXP)
rotenone  (EXP,ISO)
rotigotine  (EXP)
rubidium atom  (EXP)
Salmeterol xinafoate  (EXP)
sertaconazole  (EXP)
sertindole  (EXP)
sertraline  (EXP)
simvastatin  (ISO)
sodium arsenite  (EXP)
sodium atom  (EXP)
sodium cyanide  (EXP)
sorafenib  (EXP)
sotalol  (EXP)
strychnine  (EXP)
sulforaphane  (ISO)
sunitinib  (EXP)
Syrosingopine  (EXP)
tacrine  (EXP)
tamoxifen  (EXP,ISO)
tazarotene  (EXP)
terbinafine  (EXP)
terconazole  (EXP)
Terfenadine  (EXP)
terodiline  (EXP)
testosterone  (EXP)
tetramethrin  (EXP)
thallium  (EXP)
thioridazine  (EXP)
tiamulin  (EXP)
tifenamil  (EXP)
tipepidine  (EXP)
tiquizium bromide  (EXP)
titanium dioxide  (ISO)
tolcapone  (EXP)
topiramate  (EXP)
toremifene  (EXP)
trazodone  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
trifluoperazine  (EXP)
trifluperidol  (EXP)
triflupromazine  (EXP)
Tripelennamine  (EXP)
triprolidine  (EXP)
triptonide  (ISO)
Triton X-100  (EXP)
Valnemulin  (EXP)
valproic acid  (EXP,ISO)
vandetanib  (EXP)
vanoxerine dihydrochloride  (EXP)
venlafaxine hydrochloride  (EXP)
verapamil  (EXP)
vincamine  (EXP)
Vinpocetine  (EXP)
vitamin E  (EXP)
xaliproden  (EXP)
zimeldine  (EXP)
zinc pyrithione  (EXP)
ziprasidone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
carvedilol pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. Hong K, etal., J Cardiovasc Electrophysiol. 2005 Apr;16(4):394-6.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Tester DJ, etal., Heart Rhythm. 2005 May;2(5):507-17.
Additional References at PubMed
PMID:7604285   PMID:7736582   PMID:7842012   PMID:7889573   PMID:8159766   PMID:8587608   PMID:8635257   PMID:8877771   PMID:8889548   PMID:8914737   PMID:8995352   PMID:9024139  
PMID:9230439   PMID:9351446   PMID:9351462   PMID:9509262   PMID:9511785   PMID:9544837   PMID:9600240   PMID:9693036   PMID:9714291   PMID:9765245   PMID:9845367   PMID:10086971  
PMID:10187793   PMID:10219239   PMID:10220144   PMID:10517660   PMID:10735633   PMID:10790218   PMID:10837251   PMID:10862094   PMID:10862104   PMID:10973849   PMID:10996323   PMID:11136691  
PMID:11170080   PMID:11278781   PMID:11289718   PMID:11374908   PMID:11741928   PMID:11743032   PMID:11854117   PMID:11864985   PMID:11953308   PMID:11997281   PMID:12021266   PMID:12062363  
PMID:12063277   PMID:12142119   PMID:12151390   PMID:12209010   PMID:12270925   PMID:12354768   PMID:12402336   PMID:12427763   PMID:12431979   PMID:12442276   PMID:12477932   PMID:12527373  
PMID:12560090   PMID:12593854   PMID:12621127   PMID:12626667   PMID:12634931   PMID:12690205   PMID:12690509   PMID:12695533   PMID:12736144   PMID:12775586   PMID:12804575   PMID:12829173  
PMID:12849668   PMID:12853948   PMID:12885765   PMID:12902341   PMID:14525949   PMID:14661677   PMID:14674677   PMID:14676148   PMID:14714110   PMID:14744775   PMID:14760488   PMID:14973143  
PMID:14975928   PMID:14998624   PMID:15051636   PMID:15120823   PMID:15176425   PMID:15181157   PMID:15202000   PMID:15211519   PMID:15231497   PMID:15304481   PMID:15364333   PMID:15365094  
PMID:15365637   PMID:15367556   PMID:15475579   PMID:15489334   PMID:15522280   PMID:15528201   PMID:15534720   PMID:15572050   PMID:15699249   PMID:15746444   PMID:15760896   PMID:15778703  
PMID:15790807   PMID:15800067   PMID:15851119   PMID:15961404   PMID:15973763   PMID:16011830   PMID:16132053   PMID:16155735   PMID:16166152   PMID:16169070   PMID:16244363   PMID:16253915  
PMID:16263765   PMID:16265378   PMID:16361248   PMID:16382104   PMID:16399053   PMID:16407206   PMID:16414944   PMID:16432067   PMID:16467651   PMID:16472284   PMID:16474003   PMID:16487223  
PMID:16487842   PMID:16506891   PMID:16524878   PMID:16550488   PMID:16556651   PMID:16723117   PMID:16769794   PMID:16771953   PMID:16818214   PMID:16880338   PMID:16883575   PMID:16914520  
PMID:16923798   PMID:17042915   PMID:17056009   PMID:17120019   PMID:17171344   PMID:17192395   PMID:17210839   PMID:17227789   PMID:17239714   PMID:17272276   PMID:17275752   PMID:17293393  
PMID:17363390   PMID:17420287   PMID:17429906   PMID:17444521   PMID:17516459   PMID:17531263   PMID:17534376   PMID:17560885   PMID:17569659   PMID:17576861   PMID:17624316   PMID:17693551  
PMID:17709632   PMID:17762170   PMID:17763876   PMID:17823114   PMID:17852802   PMID:17895974   PMID:17905336   PMID:17938585   PMID:17976575   PMID:18042732   PMID:18048364   PMID:18096051  
PMID:18162604   PMID:18191158   PMID:18192214   PMID:18209470   PMID:18222980   PMID:18272172   PMID:18345496   PMID:18362022   PMID:18386051   PMID:18414380   PMID:18426444   PMID:18441445  
PMID:18504605   PMID:18551196   PMID:18559421   PMID:18570888   PMID:18590565   PMID:18593567   PMID:18596570   PMID:18599551   PMID:18616963   PMID:18617000   PMID:18634834   PMID:18675227  
PMID:18680509   PMID:18690032   PMID:18708743   PMID:18752142   PMID:18774102   PMID:18776039   PMID:18781376   PMID:18785031   PMID:18791070   PMID:18808722   PMID:18848812   PMID:18923542  
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PMID:19070294   PMID:19088442   PMID:19088443   PMID:19136169   PMID:19149796   PMID:19157587   PMID:19160088   PMID:19172259   PMID:19174314   PMID:19187913   PMID:19215240   PMID:19234087  
PMID:19244476   PMID:19305408   PMID:19305409   PMID:19305991   PMID:19322600   PMID:19324319   PMID:19406877   PMID:19409379   PMID:19412172   PMID:19413965   PMID:19424205   PMID:19439805  
PMID:19479660   PMID:19490267   PMID:19490382   PMID:19495974   PMID:19501051   PMID:19551538   PMID:19577877   PMID:19617705   PMID:19654002   PMID:19668779   PMID:19671703   PMID:19690348  
PMID:19716085   PMID:19720020   PMID:19726881   PMID:19765650   PMID:19821083   PMID:19843919   PMID:19859662   PMID:19878047   PMID:19892732   PMID:19913121   PMID:19926013   PMID:19940115  
PMID:19949665   PMID:19955179   PMID:19956635   PMID:20004623   PMID:20062061   PMID:20062063   PMID:20071715   PMID:20097192   PMID:20108749   PMID:20116193   PMID:20126398   PMID:20133899  
PMID:20140874   PMID:20144677   PMID:20215044   PMID:20226272   PMID:20301308   PMID:20301690   PMID:20363888   PMID:20375276   PMID:20386770   PMID:20400777   PMID:20465523   PMID:20470906  
PMID:20479154   PMID:20507645   PMID:20541041   PMID:20544339   PMID:20547678   PMID:20549940   PMID:20574821   PMID:20605793   PMID:20628086   PMID:20660661   PMID:20662825   PMID:20693282  
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PMID:21044581   PMID:21048156   PMID:21055387   PMID:21057041   PMID:21063070   PMID:21063088   PMID:21063774   PMID:21070882   PMID:21109023   PMID:21130771   PMID:21135103   PMID:21135701  
PMID:21145461   PMID:21164565   PMID:21170050   PMID:21177251   PMID:21185499   PMID:21219869   PMID:21234558   PMID:21315844   PMID:21320466   PMID:21357734   PMID:21376840   PMID:21440677  
PMID:21463633   PMID:21474444   PMID:21483829   PMID:21489024   PMID:21490315   PMID:21496174   PMID:21525004   PMID:21536673   PMID:21536683   PMID:21573751   PMID:21669058   PMID:21680736  
PMID:21777565   PMID:21806934   PMID:21820442   PMID:21832094   PMID:21844197   PMID:21873635   PMID:21908602   PMID:21920426   PMID:21935437   PMID:21936766   PMID:21996251   PMID:22052838  
PMID:22100990   PMID:22107967   PMID:22124116   PMID:22161019   PMID:22173492   PMID:22242185   PMID:22292854   PMID:22396785   PMID:22460808   PMID:22465688   PMID:22508050   PMID:22517356  
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PMID:22905262   PMID:22964610   PMID:22988594   PMID:23010577   PMID:23022675   PMID:23029143   PMID:23033485   PMID:23041462   PMID:23090949   PMID:23103500   PMID:23133669   PMID:23134353  
PMID:23136156   PMID:23139156   PMID:23166209   PMID:23237912   PMID:23241319   PMID:23277474   PMID:23300672   PMID:23440458   PMID:23459091   PMID:23465283   PMID:23470493   PMID:23471968  
PMID:23473737   PMID:23524483   PMID:23546015   PMID:23571109   PMID:23571586   PMID:23589291   PMID:23603386   PMID:23608144   PMID:23651034   PMID:23672495   PMID:23714088   PMID:23718892  
PMID:23721480   PMID:23744352   PMID:23761630   PMID:23788249   PMID:23792956   PMID:23793622   PMID:23864605   PMID:23890619   PMID:23899126   PMID:23936059   PMID:23963841   PMID:23981618  
PMID:23995044   PMID:23997099   PMID:24015048   PMID:24021552   PMID:24036083   PMID:24057343   PMID:24074973   PMID:24112685   PMID:24152733   PMID:24154981   PMID:24204727   PMID:24213244  
PMID:24284363   PMID:24307198   PMID:24325597   PMID:24366185   PMID:24386436   PMID:24386440   PMID:24392021   PMID:24400717   PMID:24403225   PMID:24417241   PMID:24429499   PMID:24449824  
PMID:24460807   PMID:24462143   PMID:24516604   PMID:24530480   PMID:24569898   PMID:24587194   PMID:24606930   PMID:24606995   PMID:24623279   PMID:24679481   PMID:24688054   PMID:24695734  
PMID:24875677   PMID:24931372   PMID:24937480   PMID:24952745   PMID:24993425   PMID:25028483   PMID:25071021   PMID:25128783   PMID:25218469   PMID:25224286   PMID:25247487   PMID:25266722  
PMID:25281747   PMID:25355491   PMID:25417227   PMID:25417810   PMID:25418316   PMID:25453103   PMID:25596745   PMID:25648353   PMID:25653065   PMID:25656388   PMID:25719829   PMID:25809256  
PMID:25819988   PMID:25820318   PMID:25866772   PMID:25921289   PMID:25945833   PMID:25947924   PMID:25987402   PMID:26063740   PMID:26066992   PMID:26109178   PMID:26118593   PMID:26129877  
PMID:26152716   PMID:26173150   PMID:26334569   PMID:26363003   PMID:26403377   PMID:26481172   PMID:26496715   PMID:26503718   PMID:26519040   PMID:26543354   PMID:26659724   PMID:26746457  
PMID:26829745   PMID:26847485   PMID:26859003   PMID:27025590   PMID:27067105   PMID:27077769   PMID:27078096   PMID:27189953   PMID:27317659   PMID:27333947   PMID:27490970   PMID:27502273  
PMID:27517748   PMID:27558843   PMID:27731415   PMID:27803431   PMID:27816319   PMID:27916661   PMID:27997898   PMID:27998983   PMID:28049825   PMID:28122216   PMID:28212739   PMID:28235848  
PMID:28280240   PMID:28314880   PMID:28336205   PMID:28431243   PMID:28433559   PMID:28544109   PMID:28552773   PMID:28593575   PMID:28743763   PMID:28784631   PMID:28963955   PMID:29058182  
PMID:29066300   PMID:29089383   PMID:29117522   PMID:29146210   PMID:29259226   PMID:29331839   PMID:29355491   PMID:29449639   PMID:29507111   PMID:29545312   PMID:29548277   PMID:29572566  
PMID:29622001   PMID:29752375   PMID:29855564   PMID:29907571   PMID:30244407   PMID:30369311   PMID:30377250   PMID:30401747   PMID:30481776   PMID:30544220   PMID:30582453   PMID:30607529  
PMID:30770456   PMID:30792401   PMID:30929919   PMID:30988392   PMID:31015282   PMID:31017964   PMID:31087102   PMID:31137166   PMID:31146003   PMID:31331361   PMID:31347753   PMID:31358886  
PMID:31361068   PMID:31484079   PMID:31493592   PMID:31522018   PMID:31570775   PMID:31573043   PMID:31579959   PMID:31659098   PMID:31669064   PMID:31696929   PMID:31751991   PMID:31844156  
PMID:31874991   PMID:31882846   PMID:31948476   PMID:31980532   PMID:32093314   PMID:32135169   PMID:32147975   PMID:32173522   PMID:32191791   PMID:32296183   PMID:32321643   PMID:32513696  
PMID:32522694   PMID:32661217   PMID:33002116   PMID:33147278   PMID:33176122   PMID:33413079   PMID:33444623   PMID:33449212   PMID:33467093   PMID:33517668   PMID:33658490   PMID:33729832  
PMID:33876311   PMID:33961781   PMID:34002542   PMID:34212985   PMID:34309407   PMID:34316702   PMID:34502138   PMID:34608568   PMID:34634443   PMID:34716268   PMID:34755423   PMID:34801551  
PMID:34857952   PMID:34990074   PMID:35114584   PMID:35144019   PMID:35281812   PMID:35455047   PMID:35635995   PMID:35688148   PMID:35748872   PMID:35818223   PMID:35854468   PMID:36269083  
PMID:36305573   PMID:36421807   PMID:36496073   PMID:36626562   PMID:36792990   PMID:36815709   PMID:36849440   PMID:36861347   PMID:36946251   PMID:37231805   PMID:37386841   PMID:37769355  
PMID:37783170   PMID:37923359   PMID:38015761   PMID:38086455   PMID:38181028   PMID:38181928   PMID:38317233   PMID:38563123  


Genomics

Comparative Map Data
KCNH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387150,944,961 - 150,978,321 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7150,944,961 - 150,978,321 (-)EnsemblGRCh38hg38GRCh38
GRCh377150,642,049 - 150,675,409 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367150,272,982 - 150,305,947 (-)NCBINCBI36Build 36hg18NCBI36
Build 347150,079,696 - 150,090,563NCBI
Celera7145,199,077 - 145,232,050 (-)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7144,454,320 - 144,487,268 (-)NCBIHuRef
CHM1_17150,650,401 - 150,683,838 (-)NCBICHM1_1
T2T-CHM13v2.07152,117,824 - 152,151,201 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27149,971,333 - 150,004,698 (-)NCBI
Kcnh2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39524,524,583 - 24,556,671 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl524,524,587 - 24,556,602 (-)EnsemblGRCm39 Ensembl
GRCm38524,319,589 - 24,351,684 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl524,319,589 - 24,351,604 (-)EnsemblGRCm38mm10GRCm38
MGSCv37523,825,407 - 23,857,422 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36523,829,654 - 23,861,669 (-)NCBIMGSCv36mm8
Celera521,266,318 - 21,295,272 (-)NCBICelera
Cytogenetic Map5A3NCBI
cM Map510.94NCBI
Kcnh2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8411,719,357 - 11,751,424 (+)NCBIGRCr8
mRatBN7.2410,826,834 - 10,859,009 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl410,826,928 - 10,859,008 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx415,973,605 - 16,005,332 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0411,793,792 - 11,825,521 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0410,145,580 - 10,177,308 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.047,355,066 - 7,387,282 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl47,355,574 - 7,387,253 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.047,366,726 - 7,398,606 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.446,192,644 - 6,224,285 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.146,192,643 - 6,224,284 (+)NCBI
Celera46,444,570 - 6,473,521 (+)NCBICelera
Cytogenetic Map4q11NCBI
Kcnh2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554915,391,384 - 5,422,241 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554915,391,444 - 5,422,241 (-)NCBIChiLan1.0ChiLan1.0
KCNH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26187,362,612 - 187,395,976 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1739,372,876 - 39,406,239 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07142,528,979 - 142,562,074 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17154,680,927 - 154,713,525 (-)NCBIpanpan1.1PanPan1.1panPan2
KCNH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11615,009,031 - 15,041,786 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1615,009,031 - 15,041,504 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1615,617,297 - 15,650,061 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01616,724,206 - 16,757,289 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1616,724,490 - 16,757,289 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11615,103,715 - 15,136,482 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01615,685,081 - 15,717,872 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01615,735,820 - 15,768,605 (-)NCBIUU_Cfam_GSD_1.0
Kcnh2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244051186,491,041 - 6,523,203 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365276,379,669 - 6,412,390 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365276,380,222 - 6,412,390 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl186,243,524 - 6,279,111 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1186,242,826 - 6,279,154 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2186,719,117 - 6,725,624 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNH2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121119,123,601 - 119,156,985 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21119,124,007 - 119,156,794 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607215,095,069 - 15,128,476 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnh2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248005,632,726 - 5,663,771 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248005,633,060 - 5,663,700 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNH2
2589 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000238.4(KCNH2):c.2218dup (p.Cys740fs) duplication Long QT syndrome [RCV000543030] Chr7:150950347..150950348 [GRCh38]
Chr7:150647435..150647436 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2626G>A (p.Glu876Lys) single nucleotide variant Long QT syndrome [RCV000551239]|not provided [RCV000786143] Chr7:150948510 [GRCh38]
Chr7:150645598 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2180_2317del (p.Asp727_Ala772del) deletion Long QT syndrome [RCV000530429] Chr7:150950249..150950386 [GRCh38]
Chr7:150647337..150647474 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.461G>A (p.Trp154Ter) single nucleotide variant Long QT syndrome [RCV000544265] Chr7:150959583 [GRCh38]
Chr7:150656671 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1770C>T (p.Gly590=) single nucleotide variant Cardiac arrhythmia [RCV001841430]|Cardiovascular phenotype [RCV002404379]|Long QT syndrome [RCV000545145] Chr7:150951623 [GRCh38]
Chr7:150648711 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1892C>T (p.Ser631Phe) single nucleotide variant Long QT syndrome [RCV000528301]|not provided [RCV001755799] Chr7:150951501 [GRCh38]
Chr7:150648589 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1143C>T (p.Gly381=) single nucleotide variant Cardiac arrhythmia [RCV001841425]|Cardiovascular phenotype [RCV002341262]|Long QT syndrome [RCV000546479] Chr7:150952839 [GRCh38]
Chr7:150649927 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2681G>A (p.Arg894His) single nucleotide variant Cardiac arrhythmia [RCV001841406]|Cardiovascular phenotype [RCV002431480]|Inborn genetic diseases [RCV001267179]|Long QT syndrome 2 [RCV000520688]|Long QT syndrome [RCV002060266] Chr7:150948455 [GRCh38]
Chr7:150645543 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1225G>A (p.Val409Met) single nucleotide variant Cardiac arrhythmia [RCV001841426]|Long QT syndrome 2 [RCV002272279]|Long QT syndrome [RCV000547400]|Short QT syndrome type 1 [RCV002497063]|Wolff-Parkinson-White pattern [RCV000656151] Chr7:150952757 [GRCh38]
Chr7:150649845 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1808G>A (p.Gly603Asp) single nucleotide variant Long QT syndrome [RCV000550461] Chr7:150951585 [GRCh38]
Chr7:150648673 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.235G>T (p.Ala79Ser) single nucleotide variant Long QT syndrome [RCV000543816] Chr7:150974783 [GRCh38]
Chr7:150671871 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3279_3303del (p.Leu1094fs) deletion Long QT syndrome [RCV000548545] Chr7:150946904..150946928 [GRCh38]
Chr7:150643992..150644016 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2696C>G (p.Thr899Arg) single nucleotide variant Cardiovascular phenotype [RCV000620755]|Long QT syndrome [RCV000532747] Chr7:150947875 [GRCh38]
Chr7:150644963 [GRCh37]
Chr7:7q36.1		 uncertain significance
KCNH2, IVS3DS, G-C, +1 single nucleotide variant Long QT syndrome 2 [RCV000015503] Chr7:7q36.1 pathogenic
NM_000238.3(KCNH2):c.1497_1523del27 (p.Ile500_Phe508del) deletion Long QT syndrome 2 [RCV000015506] Chr7:150952459..150952485 [GRCh38]
Chr7:150649547..150649573 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1261del (p.Thr421fs) deletion Long QT syndrome 2 [RCV000015507] Chr7:150952721 [GRCh38]
Chr7:150649809 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2592+1G>A single nucleotide variant Long QT syndrome 1/2, digenic [RCV000015519]|Long QT syndrome [RCV003531902] Chr7:150948855 [GRCh38]
Chr7:150645943 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
KCNH2, 1-BP INS, 2775G insertion Long QT syndrome 2 [RCV000015520]|Long QT syndrome 1/2, digenic [RCV000015521] Chr7:7q36.1 pathogenic
NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs) duplication not provided [RCV000627138] Chr7:150958430..150958431 [GRCh38]
Chr7:150655518..150655519 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.735C>A (p.Pro245=) single nucleotide variant Cardiovascular phenotype [RCV002384050]|Long QT syndrome [RCV000546371] Chr7:150958240 [GRCh38]
Chr7:150655328 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1121_1122del (p.Val374fs) deletion Long QT syndrome [RCV000544925] Chr7:150957297..150957298 [GRCh38]
Chr7:150654385..150654386 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3286C>A (p.Pro1096Thr) single nucleotide variant Long QT syndrome [RCV000524687] Chr7:150946921 [GRCh38]
Chr7:150644009 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.197G>A (p.Cys66Tyr) single nucleotide variant Long QT syndrome 2 [RCV000656723]|Long QT syndrome [RCV002534252] Chr7:150974821 [GRCh38]
Chr7:150671909 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1110C>A (p.Val370=) single nucleotide variant Long QT syndrome [RCV000545831] Chr7:150957309 [GRCh38]
Chr7:150654397 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.88ATC[1] (p.Ile31del) microsatellite Long QT syndrome [RCV003533005]|not provided [RCV001508227] Chr7:150974925..150974927 [GRCh38]
Chr7:150672013..150672015 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3153-3C>T single nucleotide variant Cardiac arrhythmia [RCV001841441]|Long QT syndrome [RCV000547761] Chr7:150947057 [GRCh38]
Chr7:150644145 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2861G>A (p.Arg954His) single nucleotide variant Cardiac arrhythmia [RCV001841438]|Long QT syndrome [RCV000552830] Chr7:150947710 [GRCh38]
Chr7:150644798 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.253G>A (p.Ala85Thr) single nucleotide variant Long QT syndrome [RCV000526037] Chr7:150974765 [GRCh38]
Chr7:150671853 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+1871C>T single nucleotide variant Long QT syndrome [RCV000558232] Chr7:150955420 [GRCh38]
Chr7:150652508 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA indel Long QT syndrome [RCV000554266] Chr7:150950421..150950423 [GRCh38]
Chr7:150647509..150647511 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.1836G>A (p.Val612=) single nucleotide variant Long QT syndrome [RCV000551353] Chr7:150951557 [GRCh38]
Chr7:150648645 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1335dup (p.Gly446fs) duplication Long QT syndrome [RCV000548632] Chr7:150952646..150952647 [GRCh38]
Chr7:150649734..150649735 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1342G>T (p.Ala448Ser) single nucleotide variant Cardiac arrhythmia [RCV001841407]|Long QT syndrome 2 [RCV000522527]|Long QT syndrome [RCV000528889]|not provided [RCV002225643] Chr7:150952640 [GRCh38]
Chr7:150649728 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2062C>T (p.Gln688Ter) single nucleotide variant Long QT syndrome [RCV000529646] Chr7:150951004 [GRCh38]
Chr7:150648092 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) single nucleotide variant Cardiac arrhythmia [RCV003492296]|Cardiovascular phenotype [RCV000620827]|Congenital long QT syndrome [RCV000057941]|Long QT syndrome 2 [RCV000015501]|Long QT syndrome [RCV000229360]|Obesity [RCV000626630]|not provided [RCV000181806] Chr7:150951711 [GRCh38]
Chr7:150648799 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1408A>G (p.Asn470Asp) single nucleotide variant Congenital long QT syndrome [RCV000057902]|Long QT syndrome 2 [RCV000015502] Chr7:150952574 [GRCh38]
Chr7:150649662 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1778T>G (p.Ile593Arg) single nucleotide variant Congenital long QT syndrome [RCV000057986]|Long QT syndrome 2 [RCV000015504]|Long QT syndrome [RCV001851874]|not provided [RCV001545123] Chr7:150951615 [GRCh38]
Chr7:150648703 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met) single nucleotide variant Cardiovascular phenotype [RCV000254122]|Congenital long QT syndrome [RCV000058125]|Long QT syndrome 1 [RCV000509399]|Long QT syndrome 2 [RCV000015505]|Long QT syndrome [RCV000806677]|not provided [RCV001544763] Chr7:150948984 [GRCh38]
Chr7:150646072 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) single nucleotide variant Cardiovascular phenotype [RCV002408467]|Congenital long QT syndrome [RCV000058029]|KCNH2-related condition [RCV003390684]|Long QT syndrome 2 [RCV000015508]|Long QT syndrome [RCV000822422]|not provided [RCV000223848] Chr7:150951511 [GRCh38]
Chr7:150648599 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys) single nucleotide variant Cardiovascular phenotype [RCV002399326]|Congenital long QT syndrome [RCV000057970]|Long QT syndrome 2 [RCV000015509]|Long QT syndrome [RCV000537059]|not provided [RCV000181815] Chr7:150951649 [GRCh38]
Chr7:150648737 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1714G>C (p.Gly572Arg) single nucleotide variant Congenital long QT syndrome [RCV000057960]|Long QT syndrome 2 [RCV000015510] Chr7:150951679 [GRCh38]
Chr7:150648767 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr) single nucleotide variant Cardiovascular phenotype [RCV002390110]|Congenital long QT syndrome [RCV000057910]|Long QT syndrome 2 [RCV000709729]|Long QT syndrome [RCV000703745]|Long QT syndrome, bradycardia-induced [RCV000015511]|not provided [RCV000182022] Chr7:150952514 [GRCh38]
Chr7:150649602 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter) single nucleotide variant Long QT syndrome 2 [RCV000015512]|Long QT syndrome [RCV001207958]|not provided [RCV000181905] Chr7:150947477 [GRCh38]
Chr7:150644565 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) single nucleotide variant Cardiac arrhythmia [RCV003591634]|Cardiovascular phenotype [RCV002426506]|Congenital long QT syndrome [RCV000058123]|Long QT syndrome 2 [RCV000015513]|Long QT syndrome [RCV000631649] Chr7:150948995 [GRCh38]
Chr7:150646083 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp) single nucleotide variant Brugada syndrome [RCV000208497]|Cardiac arrhythmia [RCV001841245]|Cardiovascular phenotype [RCV003162252]|Congenital long QT syndrome [RCV000058108]|KCNH2-related condition [RCV003952358]|Long QT syndrome 2 [RCV001262685]|Long QT syndrome 2, acquired, susceptibility to [RCV000015514]|Long QT syndrome [RCV001851875]|not provided [RCV002223758] Chr7:150950216 [GRCh38]
Chr7:150647304 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|risk factor|uncertain significance|not provided
NM_000238.4(KCNH2):c.193A>C (p.Thr65Pro) single nucleotide variant Congenital long QT syndrome [RCV000058063]|Long QT syndrome 2 [RCV000015515] Chr7:150974825 [GRCh38]
Chr7:150671913 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) single nucleotide variant Congenital long QT syndrome [RCV000058100]|Long QT syndrome 2 [RCV000015516]|Long QT syndrome [RCV000148536]|not provided [RCV001659699] Chr7:150950311 [GRCh38]
Chr7:150647399 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.1764C>G (p.Asn588Lys) single nucleotide variant Short QT syndrome [RCV000057981]|Short QT syndrome type 1 [RCV000015517] Chr7:150951629 [GRCh38]
Chr7:150648717 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1764C>A (p.Asn588Lys) single nucleotide variant Short QT syndrome [RCV000057980]|Short QT syndrome type 1 [RCV000015518] Chr7:150951629 [GRCh38]
Chr7:150648717 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2582A>T (p.Asn861Ile) single nucleotide variant Congenital long QT syndrome [RCV000058141]|Long QT syndrome 2 [RCV000015522]|Long QT syndrome 2/5, digenic [RCV000015523]|Long QT syndrome [RCV003531903]|Short QT syndrome type 1 [RCV002490375]|not provided [RCV002223759] Chr7:150948866 [GRCh38]
Chr7:150645954 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2842C>T (p.Arg948Cys) single nucleotide variant Cardiac arrhythmia [RCV001841246]|Congenital long QT syndrome [RCV000058169]|Long QT syndrome 1/2, digenic [RCV000015524]|Long QT syndrome [RCV001318613]|Short QT syndrome type 1 [RCV002496372]|not provided [RCV001794448] Chr7:150947729 [GRCh38]
Chr7:150644817 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly) single nucleotide variant Cardiovascular phenotype [RCV000617723]|Congenital long QT syndrome [RCV000058186]|Long QT syndrome 2/3, digenic [RCV000015525]|Short QT syndrome type 1 [RCV002247344]|not provided [RCV000181948] Chr7:150974720 [GRCh38]
Chr7:150671808 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) single nucleotide variant Cardiac arrhythmia [RCV001841247]|Cardiovascular phenotype [RCV000620709]|Congenital long QT syndrome [RCV000058156]|Long QT syndrome 2 [RCV000015526]|Long QT syndrome 2/9, digenic [RCV000015527]|Long QT syndrome [RCV000204621]|not provided [RCV000589886] Chr7:150947833 [GRCh38]
Chr7:150644921 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.1672G>C (p.Ala558Pro) single nucleotide variant Congenital long QT syndrome [RCV000057935]|Long QT syndrome 2 [RCV000015528] Chr7:150951721 [GRCh38]
Chr7:150648809 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) single nucleotide variant Cardiovascular phenotype [RCV002408476]|Congenital long QT syndrome [RCV000058010]|Long QT syndrome 2 [RCV000022643]|Long QT syndrome [RCV000462085]|not provided [RCV000254785] Chr7:150951552 [GRCh38]
Chr7:150648640 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1831T>C (p.Tyr611His) single nucleotide variant Congenital long QT syndrome [RCV000058006]|Long QT syndrome 2 [RCV000022644] Chr7:150951562 [GRCh38]
Chr7:150648650 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1539C>T (p.Phe513=) single nucleotide variant Cardiac arrhythmia [RCV001841530]|Cardiovascular phenotype [RCV000242595]|Long QT syndrome 2 [RCV001095170]|Long QT syndrome [RCV000290606]|not provided [RCV001711088]|not specified [RCV000252003] Chr7:150952443 [GRCh38]
Chr7:150649531 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) single nucleotide variant Cardiac arrhythmia [RCV001841531]|Cardiovascular phenotype [RCV000243613]|KCNH2-related condition [RCV003914869]|Long QT syndrome 2 [RCV000203011]|Long QT syndrome [RCV000401763]|Sudden unexplained death [RCV000172896]|Torsades de pointes [RCV000171814]|not provided [RCV000058202]|not specified [RCV000517346] Chr7:150947340 [GRCh38]
Chr7:150644428 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1 copy number loss See cases [RCV000050552] Chr7:150319864..152674271 [GRCh38]
Chr7:150016953..152371356 [GRCh37]
Chr7:149647886..152002289 [NCBI36]
Chr7:7q36.1		 pathogenic
GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1 copy number loss See cases [RCV000050750] Chr7:143884559..152674271 [GRCh38]
Chr7:143581652..152371356 [GRCh37]
Chr7:143212585..152002289 [NCBI36]
Chr7:7q35-36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1 copy number loss See cases [RCV000051108] Chr7:147250465..159325876 [GRCh38]
Chr7:146947557..159118566 [GRCh37]
Chr7:146578490..158811327 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 copy number loss See cases [RCV000054178] Chr7:143884559..159282390 [GRCh38]
Chr7:143581652..159075079 [GRCh37]
Chr7:143212585..158767840 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1 copy number loss See cases [RCV000054188] Chr7:145699944..159296617 [GRCh38]
Chr7:145397037..159089306 [GRCh37]
Chr7:145027970..158782067 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1 copy number loss See cases [RCV000054189] Chr7:148256584..152332535 [GRCh38]
Chr7:147953676..152029620 [GRCh37]
Chr7:147584609..151660553 [NCBI36]
Chr7:7q36.1		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
NM_000238.3(KCNH2):c.1585C>T (p.Leu529=) single nucleotide variant Malignant melanoma [RCV000067771] Chr7:150951808 [GRCh38]
Chr7:150648896 [GRCh37]
Chr7:150279829 [NCBI36]
Chr7:7q36.1		 not provided
NM_000238.3(KCNH2):c.1438G>A (p.Glu480Lys) single nucleotide variant Malignant melanoma [RCV000067772] Chr7:150952544 [GRCh38]
Chr7:150649632 [GRCh37]
Chr7:150280565 [NCBI36]
Chr7:7q36.1		 not provided
NM_000238.4(KCNH2):c.1402C>T (p.Leu468Phe) single nucleotide variant Long QT syndrome [RCV002004777] Chr7:150952580 [GRCh38]
Chr7:150649668 [GRCh37]
Chr7:150280601 [NCBI36]
Chr7:7q36.1		 uncertain significance|not provided
NM_000238.3(KCNH2):c.1351C>T (p.Pro451Ser) single nucleotide variant Malignant melanoma [RCV000067774] Chr7:150952631 [GRCh38]
Chr7:150649719 [GRCh37]
Chr7:150280652 [NCBI36]
Chr7:7q36.1		 not provided
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) single nucleotide variant Cardiac arrhythmia [RCV001842421]|Cardiovascular phenotype [RCV000251581]|Long QT syndrome 2 [RCV001159683]|Long QT syndrome [RCV001082498]|not provided [RCV000179737]|not specified [RCV001264431] Chr7:150951830 [GRCh38]
Chr7:150648918 [GRCh37]
Chr7:150279851 [NCBI36]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.3(KCNH2):c.1440G>A (p.Glu480=) single nucleotide variant Malignant melanoma [RCV000061603] Chr7:150952542 [GRCh38]
Chr7:150649630 [GRCh37]
Chr7:150280563 [NCBI36]
Chr7:7q36.1		 not provided
NM_000238.4(KCNH2):c.1001C>T (p.Pro334Leu) single nucleotide variant Congenital long QT syndrome [RCV000057868]|Long QT syndrome [RCV001055822]|not provided [RCV000181776] Chr7:150957418 [GRCh38]
Chr7:150654506 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1025A>T (p.Asp342Val) single nucleotide variant Acquired long QT syndrome [RCV000057869] Chr7:150957394 [GRCh38]
Chr7:150654482 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) single nucleotide variant Cardiac arrhythmia [RCV001841694]|Cardiovascular phenotype [RCV000619112]|KCNH2-related condition [RCV003944978]|Long QT syndrome 2 [RCV000678963]|Long QT syndrome [RCV000148527]|not provided [RCV000057870]|not specified [RCV000181777] Chr7:150957380 [GRCh38]
Chr7:150654468 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.1099A>T (p.Thr367Ser) single nucleotide variant Cardiac arrhythmia [RCV001841695]|Long QT syndrome [RCV001854186]|not provided [RCV000057871] Chr7:150957320 [GRCh38]
Chr7:150654408 [GRCh37]
Chr7:7q36.1		 benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.1199T>A (p.Ile400Asn) single nucleotide variant Congenital long QT syndrome [RCV000057872] Chr7:150952783 [GRCh38]
Chr7:150649871 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1205A>G (p.His402Arg) single nucleotide variant Congenital long QT syndrome [RCV000057873]|Long QT syndrome [RCV000535219]|not provided [RCV002460903] Chr7:150952777 [GRCh38]
Chr7:150649865 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.121G>T (p.Val41Phe) single nucleotide variant Congenital long QT syndrome [RCV000057874] Chr7:150974897 [GRCh38]
Chr7:150671985 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1229G>C (p.Trp410Ser) single nucleotide variant Congenital long QT syndrome [RCV000057875] Chr7:150952753 [GRCh38]
Chr7:150649841 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.122T>C (p.Val41Ala) single nucleotide variant Congenital long QT syndrome [RCV000057876] Chr7:150974896 [GRCh38]
Chr7:150671984 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1238T>C (p.Leu413Pro) single nucleotide variant Congenital long QT syndrome [RCV000057877] Chr7:150952744 [GRCh38]
Chr7:150649832 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1259A>G (p.Tyr420Cys) single nucleotide variant Congenital long QT syndrome [RCV000057878]|Long QT syndrome [RCV001854187] Chr7:150952723 [GRCh38]
Chr7:150649811 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.125T>A (p.Ile42Asn) single nucleotide variant Congenital long QT syndrome [RCV000057879] Chr7:150974893 [GRCh38]
Chr7:150671981 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1262C>T (p.Thr421Met) single nucleotide variant Congenital long QT syndrome [RCV000057880]|Long QT syndrome [RCV000527961]|not provided [RCV000181785] Chr7:150952720 [GRCh38]
Chr7:150649808 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1264G>A (p.Ala422Thr) single nucleotide variant Congenital long QT syndrome [RCV000057881]|Long QT syndrome [RCV003531951]|not provided [RCV000181786] Chr7:150952718 [GRCh38]
Chr7:150649806 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1277C>A (p.Pro426His) single nucleotide variant Congenital long QT syndrome [RCV000057882] Chr7:150952705 [GRCh38]
Chr7:150649793 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1279T>C (p.Tyr427His) single nucleotide variant Congenital long QT syndrome [RCV000057883] Chr7:150952703 [GRCh38]
Chr7:150649791 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.127T>G (p.Tyr43Asp) single nucleotide variant Congenital long QT syndrome [RCV000057884]|Short QT syndrome type 1 [RCV002247455] Chr7:150974891 [GRCh38]
Chr7:150671979 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1280A>C (p.Tyr427Ser) single nucleotide variant Cardiovascular phenotype [RCV000246613]|Congenital long QT syndrome [RCV000057885]|Long QT syndrome [RCV001854188] Chr7:150952702 [GRCh38]
Chr7:150649790 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1280A>G (p.Tyr427Cys) single nucleotide variant Congenital long QT syndrome [RCV000057886]|Long QT syndrome 1 [RCV000584803] Chr7:150952702 [GRCh38]
Chr7:150649790 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu) single nucleotide variant Congenital long QT syndrome [RCV000057887]|Long QT syndrome [RCV001854189]|not provided [RCV001588889] Chr7:150952699 [GRCh38]
Chr7:150649787 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1285G>C (p.Ala429Pro) single nucleotide variant Congenital long QT syndrome [RCV000057888] Chr7:150952697 [GRCh38]
Chr7:150649785 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.128A>G (p.Tyr43Cys) single nucleotide variant Congenital long QT syndrome [RCV000057889]|Long QT syndrome [RCV000823889]|not provided [RCV000181926] Chr7:150974890 [GRCh38]
Chr7:150671978 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1293C>A (p.Phe431Leu) single nucleotide variant Cardiovascular phenotype [RCV002381372]|Congenital long QT syndrome [RCV000057890]|Long QT syndrome [RCV001854190]|not provided [RCV000481749] Chr7:150952689 [GRCh38]
Chr7:150649777 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1307C>T (p.Thr436Met) single nucleotide variant Cardiac arrhythmia [RCV001841696]|Cardiovascular phenotype [RCV003298108]|Congenital long QT syndrome [RCV000057891]|Long QT syndrome [RCV000631634]|not provided [RCV001552413] Chr7:150952675 [GRCh38]
Chr7:150649763 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1319C>T (p.Pro440Leu) single nucleotide variant Cardiac arrhythmia [RCV001841697]|Congenital long QT syndrome [RCV000057892]|Long QT syndrome [RCV001854191]|not provided [RCV001531068] Chr7:150952663 [GRCh38]
Chr7:150649751 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.131G>T (p.Cys44Phe) single nucleotide variant Congenital long QT syndrome [RCV000057893] Chr7:150974887 [GRCh38]
Chr7:150671975 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.132C>G (p.Cys44Trp) single nucleotide variant Congenital long QT syndrome [RCV000057894] Chr7:150974886 [GRCh38]
Chr7:150671974 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1332G>T (p.Glu444Asp) single nucleotide variant not provided [RCV000057895] Chr7:150952650 [GRCh38]
Chr7:150649738 [GRCh37]
Chr7:7q36.1		 uncertain significance|not provided
NM_000238.4(KCNH2):c.133A>T (p.Asn45Tyr) single nucleotide variant Congenital long QT syndrome [RCV000057896] Chr7:150974885 [GRCh38]
Chr7:150671973 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu) single nucleotide variant Cardiac arrhythmia [RCV001841698]|Congenital long QT syndrome [RCV000057897]|Long QT syndrome 2 [RCV000208345]|Long QT syndrome [RCV001324448] Chr7:150952630 [GRCh38]
Chr7:150649718 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1366G>T (p.Asp456Tyr) single nucleotide variant Congenital long QT syndrome [RCV000057898] Chr7:150952616 [GRCh38]
Chr7:150649704 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1378G>T (p.Asp460Tyr) single nucleotide variant Congenital long QT syndrome [RCV000057899] Chr7:150952604 [GRCh38]
Chr7:150649692 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1387T>C (p.Phe463Leu) single nucleotide variant Congenital long QT syndrome [RCV000057900] Chr7:150952595 [GRCh38]
Chr7:150649683 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1396G>T (p.Asp466Tyr) single nucleotide variant Cardiovascular phenotype [RCV003162440]|Congenital long QT syndrome [RCV000057901] Chr7:150952586 [GRCh38]
Chr7:150649674 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.140G>T (p.Gly47Val) single nucleotide variant Congenital long QT syndrome [RCV000057903]|Short QT syndrome type 1 [RCV002247456] Chr7:150974878 [GRCh38]
Chr7:150671966 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1417A>C (p.Thr473Pro) single nucleotide variant Congenital long QT syndrome [RCV000057904]|Long QT syndrome [RCV003531952] Chr7:150952565 [GRCh38]
Chr7:150649653 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn) single nucleotide variant Congenital long QT syndrome [RCV000057905]|not provided [RCV003137596] Chr7:150952564 [GRCh38]
Chr7:150649652 [GRCh37]
Chr7:7q36.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.1421C>T (p.Thr474Ile) single nucleotide variant Cardiovascular phenotype [RCV002390207]|Congenital long QT syndrome [RCV000057906]|not provided [RCV000182021] Chr7:150952561 [GRCh38]
Chr7:150649649 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1424A>G (p.Tyr475Cys) single nucleotide variant Congenital long QT syndrome [RCV000057907] Chr7:150952558 [GRCh38]
Chr7:150649646 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1426G>A (p.Val476Ile) single nucleotide variant Cardiac arrhythmia [RCV001841699]|Cardiovascular phenotype [RCV003298109]|Congenital long QT syndrome [RCV000057908]|Long QT syndrome [RCV001303669]|Short QT syndrome type 1 [RCV002477187]|not specified [RCV000454941] Chr7:150952556 [GRCh38]
Chr7:150649644 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1465A>T (p.Ile489Phe) single nucleotide variant Congenital long QT syndrome [RCV000057909] Chr7:150952517 [GRCh38]
Chr7:150649605 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1468G>C (p.Ala490Pro) single nucleotide variant Congenital long QT syndrome [RCV000057911] Chr7:150952514 [GRCh38]
Chr7:150649602 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.146G>A (p.Cys49Tyr) single nucleotide variant Congenital long QT syndrome [RCV000057912] Chr7:150974872 [GRCh38]
Chr7:150671960 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) single nucleotide variant Cardiac arrhythmia [RCV001841700]|Cardiovascular phenotype [RCV003343626]|Congenital long QT syndrome [RCV000057913]|KCNH2-related condition [RCV003415829]|Long QT syndrome 2 [RCV000778143]|Long QT syndrome [RCV001854192]|Short QT syndrome type 1 [RCV002250552]|Short QT syndrome type 1 [RCV002504961] Chr7:150952508 [GRCh38]
Chr7:150649596 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1478A>C (p.Tyr493Ser) single nucleotide variant Congenital long QT syndrome [RCV000057914]|Long QT syndrome [RCV001854193] Chr7:150952504 [GRCh38]
Chr7:150649592 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys) single nucleotide variant Congenital long QT syndrome [RCV000057915]|Long QT syndrome [RCV001207034]|not provided [RCV000412722] Chr7:150952504 [GRCh38]
Chr7:150649592 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1478A>T (p.Tyr493Phe) single nucleotide variant Congenital long QT syndrome [RCV000057916] Chr7:150952504 [GRCh38]
Chr7:150649592 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn) single nucleotide variant Cardiovascular phenotype [RCV000618688]|Congenital long QT syndrome [RCV000057917]|Long QT syndrome [RCV000467289]|not provided [RCV000181794] Chr7:150952481 [GRCh38]
Chr7:150649569 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1501G>C (p.Asp501His) single nucleotide variant Congenital long QT syndrome [RCV000057918] Chr7:150952481 [GRCh38]
Chr7:150649569 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1502A>G (p.Asp501Gly) single nucleotide variant Congenital long QT syndrome [RCV000057919]|not provided [RCV000181795] Chr7:150952480 [GRCh38]
Chr7:150649568 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.150G>T (p.Glu50Asp) single nucleotide variant Long QT syndrome [RCV002514285]|Short QT syndrome [RCV000057920] Chr7:150974868 [GRCh38]
Chr7:150671956 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1564G>A (p.Gly522Arg) single nucleotide variant Cardiac arrhythmia [RCV001841701]|Congenital long QT syndrome [RCV000057921]|Long QT syndrome [RCV001854194] Chr7:150951829 [GRCh38]
Chr7:150648917 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1575G>T (p.Lys525Asn) single nucleotide variant Congenital long QT syndrome [RCV000057922] Chr7:150951818 [GRCh38]
Chr7:150648906 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.157G>A (p.Gly53Ser) single nucleotide variant Congenital long QT syndrome [RCV000057923] Chr7:150974861 [GRCh38]
Chr7:150671949 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg) single nucleotide variant Cardiac arrhythmia [RCV001841702]|Cardiovascular phenotype [RCV002399419]|Congenital long QT syndrome [RCV000057924]|not provided [RCV001267970] Chr7:150974861 [GRCh38]
Chr7:150671949 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1583G>C (p.Arg528Pro) single nucleotide variant Congenital long QT syndrome [RCV000057925] Chr7:150951810 [GRCh38]
Chr7:150648898 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.158G>A (p.Gly53Asp) single nucleotide variant Congenital long QT syndrome [RCV000057926]|not provided [RCV003326345] Chr7:150974860 [GRCh38]
Chr7:150671948 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) single nucleotide variant Congenital long QT syndrome [RCV000057927]|Long QT syndrome 2 [RCV002470743]|Long QT syndrome [RCV000698598]|not provided [RCV001664237]|not specified [RCV001269138] Chr7:150951802 [GRCh38]
Chr7:150648890 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1592G>A (p.Arg531Gln) single nucleotide variant Congenital long QT syndrome [RCV000057928] Chr7:150951801 [GRCh38]
Chr7:150648889 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1600C>T (p.Arg534Cys) single nucleotide variant Cardiovascular phenotype [RCV002399420]|Congenital long QT syndrome [RCV000057929]|Long QT syndrome [RCV000470519]|not provided [RCV000181800] Chr7:150951793 [GRCh38]
Chr7:150648881 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1601G>T (p.Arg534Leu) single nucleotide variant Congenital long QT syndrome [RCV000057930]|Long QT syndrome [RCV001348804] Chr7:150951792 [GRCh38]
Chr7:150648880 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1609C>T (p.Arg537Trp) single nucleotide variant Cardiac arrhythmia [RCV001841703]|Congenital long QT syndrome [RCV000057931]|Long QT syndrome [RCV001344009] Chr7:150951784 [GRCh38]
Chr7:150648872 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.160T>C (p.Tyr54His) single nucleotide variant Congenital long QT syndrome [RCV000057932]|Long QT syndrome [RCV001854195]|Sudden cardiac death [RCV000853445] Chr7:150974858 [GRCh38]
Chr7:150671946 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.164C>T (p.Ser55Leu) single nucleotide variant Cardiovascular phenotype [RCV002399421]|Congenital long QT syndrome [RCV000057933]|Long QT syndrome [RCV001320245]|not provided [RCV000182049] Chr7:150974854 [GRCh38]
Chr7:150671942 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) single nucleotide variant Cardiac arrhythmia [RCV003591658]|Cardiovascular phenotype [RCV000248595]|Congenital long QT syndrome [RCV000057934]|Long QT syndrome 2 [RCV000208055]|Long QT syndrome [RCV000543570]|not provided [RCV000223726] Chr7:150951738 [GRCh38]
Chr7:150648826 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1673C>A (p.Ala558Glu) single nucleotide variant Congenital long QT syndrome [RCV000057936]|Long QT syndrome [RCV001854196]|not provided [RCV001703966] Chr7:150951720 [GRCh38]
Chr7:150648808 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1676T>A (p.Leu559His) single nucleotide variant Congenital long QT syndrome [RCV000057937] Chr7:150951717 [GRCh38]
Chr7:150648805 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.167G>A (p.Arg56Gln) single nucleotide variant Congenital long QT syndrome [RCV000057938]|Long QT syndrome [RCV000462413] Chr7:150974851 [GRCh38]
Chr7:150671939 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1681G>A (p.Ala561Thr) single nucleotide variant Cardiovascular phenotype [RCV000619406]|Congenital long QT syndrome [RCV000057939]|Inborn genetic diseases [RCV000622380]|Long QT syndrome [RCV001390277]|not provided [RCV000181805] Chr7:150951712 [GRCh38]
Chr7:150648800 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1681G>C (p.Ala561Pro) single nucleotide variant Cardiovascular phenotype [RCV000244156]|Congenital long QT syndrome [RCV000057940] Chr7:150951712 [GRCh38]
Chr7:150648800 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1685A>C (p.His562Pro) single nucleotide variant Congenital long QT syndrome [RCV000057942]|Long QT syndrome [RCV002513753] Chr7:150951708 [GRCh38]
Chr7:150648796 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1685A>G (p.His562Arg) single nucleotide variant Cardiovascular phenotype [RCV002399422]|Congenital long QT syndrome [RCV000057943]|Long QT syndrome 2 [RCV002468562]|Long QT syndrome [RCV000544355] Chr7:150951708 [GRCh38]
Chr7:150648796 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1687T>G (p.Trp563Gly) single nucleotide variant Congenital long QT syndrome [RCV000057944] Chr7:150951706 [GRCh38]
Chr7:150648794 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1689G>T (p.Trp563Cys) single nucleotide variant Congenital long QT syndrome [RCV000057945] Chr7:150951704 [GRCh38]
Chr7:150648792 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1691T>C (p.Leu564Pro) single nucleotide variant Congenital long QT syndrome [RCV000057946] Chr7:150951702 [GRCh38]
Chr7:150648790 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1693G>A (p.Ala565Thr) single nucleotide variant Congenital long QT syndrome [RCV000057947] Chr7:150951700 [GRCh38]
Chr7:150648788 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1696T>G (p.Cys566Gly) single nucleotide variant Congenital long QT syndrome [RCV000057948] Chr7:150951697 [GRCh38]
Chr7:150648785 [GRCh37]
Chr7:7q36.1		 likely pathogenic|not provided
NM_000238.4(KCNH2):c.1697G>C (p.Cys566Ser) single nucleotide variant Congenital long QT syndrome [RCV000057949]|Long QT syndrome [RCV002513754] Chr7:150951696 [GRCh38]
Chr7:150648784 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1697G>T (p.Cys566Phe) single nucleotide variant Congenital long QT syndrome [RCV000057950] Chr7:150951696 [GRCh38]
Chr7:150648784 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.169G>C (p.Ala57Pro) single nucleotide variant Congenital long QT syndrome [RCV000057951]|Long QT syndrome [RCV001212247] Chr7:150974849 [GRCh38]
Chr7:150671937 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1700T>C (p.Ile567Thr) single nucleotide variant Congenital long QT syndrome [RCV000057952]|Long QT syndrome [RCV000456591] Chr7:150951693 [GRCh38]
Chr7:150648781 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1702T>C (p.Trp568Arg) single nucleotide variant Congenital long QT syndrome [RCV000057953] Chr7:150951691 [GRCh38]
Chr7:150648779 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1704G>C (p.Trp568Cys) single nucleotide variant Congenital long QT syndrome [RCV000057954]|Long QT syndrome [RCV000689953] Chr7:150951689 [GRCh38]
Chr7:150648777 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1704G>T (p.Trp568Cys) single nucleotide variant Congenital long QT syndrome [RCV000057955] Chr7:150951689 [GRCh38]
Chr7:150648777 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1705T>C (p.Tyr569His) single nucleotide variant Congenital long QT syndrome [RCV000057956] Chr7:150951688 [GRCh38]
Chr7:150648776 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1711A>C (p.Ile571Leu) single nucleotide variant Congenital long QT syndrome [RCV000057957] Chr7:150951682 [GRCh38]
Chr7:150648770 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1711A>G (p.Ile571Val) single nucleotide variant Congenital long QT syndrome [RCV000057958]|Long QT syndrome [RCV000556890]|not provided [RCV000436135] Chr7:150951682 [GRCh38]
Chr7:150648770 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser) single nucleotide variant Cardiovascular phenotype [RCV000619615]|Congenital long QT syndrome [RCV000057959]|Long QT syndrome 2 [RCV000678923]|Long QT syndrome [RCV000631548]|not provided [RCV000181811] Chr7:150951679 [GRCh38]
Chr7:150648767 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1714G>T (p.Gly572Cys) single nucleotide variant Congenital long QT syndrome [RCV000057961] Chr7:150951679 [GRCh38]
Chr7:150648767 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1715G>A (p.Gly572Asp) single nucleotide variant Congenital long QT syndrome [RCV000057962] Chr7:150951678 [GRCh38]
Chr7:150648766 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1715G>T (p.Gly572Val) single nucleotide variant Congenital long QT syndrome [RCV000057963]|Long QT syndrome [RCV003531953]|not provided [RCV000181812] Chr7:150951678 [GRCh38]
Chr7:150648766 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1720A>G (p.Met574Val) single nucleotide variant Congenital long QT syndrome [RCV000057964]|Long QT syndrome [RCV003531954] Chr7:150951673 [GRCh38]
Chr7:150648761 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1724A>G (p.Glu575Gly) single nucleotide variant Congenital long QT syndrome [RCV000057965] Chr7:150951669 [GRCh38]
Chr7:150648757 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.172G>A (p.Glu58Lys) single nucleotide variant Congenital long QT syndrome [RCV000057966]|Long QT syndrome [RCV000472868]|not provided [RCV001582554] Chr7:150974846 [GRCh38]
Chr7:150671934 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1736T>C (p.Met579Thr) single nucleotide variant Congenital long QT syndrome [RCV000057967]|Long QT syndrome [RCV001316855] Chr7:150951657 [GRCh38]
Chr7:150648745 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.173A>C (p.Glu58Ala) single nucleotide variant Congenital long QT syndrome [RCV000057968] Chr7:150974845 [GRCh38]
Chr7:150671933 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.173A>G (p.Glu58Gly) single nucleotide variant Congenital long QT syndrome [RCV000057969]|not provided [RCV000181920] Chr7:150974845 [GRCh38]
Chr7:150671933 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1745G>T (p.Arg582Leu) single nucleotide variant Congenital long QT syndrome [RCV000057971]|Long QT syndrome [RCV001377677] Chr7:150951648 [GRCh38]
Chr7:150648736 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1747A>G (p.Ile583Val) single nucleotide variant Cardiac arrhythmia [RCV003591659]|Congenital long QT syndrome [RCV000057972] Chr7:150951646 [GRCh38]
Chr7:150648734 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.174G>C (p.Glu58Asp) single nucleotide variant Congenital long QT syndrome [RCV000057973] Chr7:150974844 [GRCh38]
Chr7:150671932 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) single nucleotide variant Cardiac arrhythmia [RCV001841704]|Cardiovascular phenotype [RCV000618627]|Congenital long QT syndrome [RCV000057974]|Long QT syndrome 2 [RCV000157264]|Long QT syndrome [RCV000470290]|Short QT syndrome type 1 [RCV000477917]|not provided [RCV000181816] Chr7:150951643 [GRCh38]
Chr7:150648731 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1750G>C (p.Gly584Arg) single nucleotide variant Congenital long QT syndrome [RCV000057975] Chr7:150951643 [GRCh38]
Chr7:150648731 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1750G>T (p.Gly584Cys) single nucleotide variant Congenital long QT syndrome [RCV000057976]|Long QT syndrome [RCV000820068]|not provided [RCV000181817] Chr7:150951643 [GRCh38]
Chr7:150648731 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1751G>T (p.Gly584Val) single nucleotide variant Congenital long QT syndrome [RCV000057977] Chr7:150951642 [GRCh38]
Chr7:150648730 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1755G>T (p.Trp585Cys) single nucleotide variant Congenital long QT syndrome [RCV000057978] Chr7:150951638 [GRCh38]
Chr7:150648726 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1762A>G (p.Asn588Asp) single nucleotide variant Congenital long QT syndrome [RCV000057979]|Long QT syndrome [RCV001854197]|not provided [RCV002280098] Chr7:150951631 [GRCh38]
Chr7:150648719 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1769G>T (p.Gly590Val) single nucleotide variant Congenital long QT syndrome [RCV000057982] Chr7:150951624 [GRCh38]
Chr7:150648712 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1777A>G (p.Ile593Val) single nucleotide variant Congenital long QT syndrome [RCV000057983] Chr7:150951616 [GRCh38]
Chr7:150648704 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1778T>A (p.Ile593Lys) single nucleotide variant Congenital long QT syndrome [RCV000057984]|Long QT syndrome [RCV000557658] Chr7:150951615 [GRCh38]
Chr7:150648703 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1778T>C (p.Ile593Thr) single nucleotide variant Congenital long QT syndrome [RCV000057985]|not provided [RCV000181818] Chr7:150951615 [GRCh38]
Chr7:150648703 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1781G>A (p.Gly594Asp) single nucleotide variant Cardiovascular phenotype [RCV003162441]|Congenital long QT syndrome [RCV000057987]|Long QT syndrome [RCV001205698] Chr7:150951612 [GRCh38]
Chr7:150648700 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1783A>G (p.Lys595Glu) single nucleotide variant Congenital long QT syndrome [RCV000057988]|Long QT syndrome [RCV001854198] Chr7:150951610 [GRCh38]
Chr7:150648698 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1785A>T (p.Lys595Asn) single nucleotide variant Congenital long QT syndrome [RCV000057989] Chr7:150951608 [GRCh38]
Chr7:150648696 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1787C>A (p.Pro596His) single nucleotide variant Congenital long QT syndrome [RCV000057990]|not provided [RCV000181819] Chr7:150951606 [GRCh38]
Chr7:150648694 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1787C>G (p.Pro596Arg) single nucleotide variant Congenital long QT syndrome [RCV000057991] Chr7:150951606 [GRCh38]
Chr7:150648694 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1787C>T (p.Pro596Leu) single nucleotide variant Congenital long QT syndrome [RCV000057992] Chr7:150951606 [GRCh38]
Chr7:150648694 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1790A>G (p.Tyr597Cys) single nucleotide variant Congenital long QT syndrome [RCV000057993]|Long QT syndrome [RCV000168208]|not provided [RCV000414552] Chr7:150951603 [GRCh38]
Chr7:150648691 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1797C>A (p.Ser599Arg) single nucleotide variant Congenital long QT syndrome [RCV000057994] Chr7:150951596 [GRCh38]
Chr7:150648684 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser) single nucleotide variant Cardiovascular phenotype [RCV000619597]|Congenital long QT syndrome [RCV000057995]|Long QT syndrome 2 [RCV000208241]|Long QT syndrome [RCV000233419] Chr7:150951592 [GRCh38]
Chr7:150648680 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1801G>T (p.Gly601Cys) single nucleotide variant Congenital long QT syndrome [RCV000057996] Chr7:150951592 [GRCh38]
Chr7:150648680 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser) single nucleotide variant Cardiovascular phenotype [RCV002408563]|Congenital long QT syndrome [RCV000057997]|Inborn genetic diseases [RCV001267365]|Long QT syndrome [RCV000205578]|not provided [RCV000181821] Chr7:150951583 [GRCh38]
Chr7:150648671 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1811G>A (p.Gly604Asp) single nucleotide variant Congenital long QT syndrome [RCV000057998] Chr7:150951582 [GRCh38]
Chr7:150648670 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1813C>T (p.Pro605Ser) single nucleotide variant Congenital long QT syndrome [RCV000057999]|Long QT syndrome [RCV003531955]|not provided [RCV003480050] Chr7:150951580 [GRCh38]
Chr7:150648668 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu) single nucleotide variant Congenital long QT syndrome [RCV000058000]|Long QT syndrome 2 [RCV000735254]|Long QT syndrome [RCV000631723] Chr7:150951579 [GRCh38]
Chr7:150648667 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1816T>C (p.Ser606Pro) single nucleotide variant Congenital long QT syndrome [RCV000058001] Chr7:150951577 [GRCh38]
Chr7:150648665 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1825G>A (p.Asp609Asn) single nucleotide variant Congenital long QT syndrome [RCV000058002]|Long QT syndrome [RCV000526585]|not provided [RCV000413200] Chr7:150951568 [GRCh38]
Chr7:150648656 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1825G>C (p.Asp609His) single nucleotide variant Congenital long QT syndrome [RCV000058003] Chr7:150951568 [GRCh38]
Chr7:150648656 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1825G>T (p.Asp609Tyr) single nucleotide variant Congenital long QT syndrome [RCV000058004] Chr7:150951568 [GRCh38]
Chr7:150648656 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1826A>G (p.Asp609Gly) single nucleotide variant Cardiovascular phenotype [RCV002408564]|Congenital long QT syndrome [RCV000058005]|Long QT syndrome [RCV001211004] Chr7:150951567 [GRCh38]
Chr7:150648655 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1831T>G (p.Tyr611Asp) single nucleotide variant Congenital long QT syndrome [RCV000058007]|Long QT syndrome [RCV000190215] Chr7:150951562 [GRCh38]
Chr7:150648650 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1834G>T (p.Val612Leu) single nucleotide variant Congenital long QT syndrome [RCV000058008]|Long QT syndrome [RCV002514286] Chr7:150951559 [GRCh38]
Chr7:150648647 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met) single nucleotide variant Cardiovascular phenotype [RCV000244892]|Congenital long QT syndrome [RCV000058009]|Long QT syndrome 2 [RCV001258357]|Long QT syndrome [RCV000527495]|Short QT syndrome type 1 [RCV001196417]|not provided [RCV000223761] Chr7:150951555 [GRCh38]
Chr7:150648643 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000238.4(KCNH2):c.1843C>G (p.Leu615Val) single nucleotide variant Congenital long QT syndrome [RCV000058011]|Long QT syndrome 2 [RCV002470744] Chr7:150951550 [GRCh38]
Chr7:150648638 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1843C>T (p.Leu615Phe) single nucleotide variant Congenital long QT syndrome [RCV000058012]|Long QT syndrome [RCV001854199]|not provided [RCV001577623] Chr7:150951550 [GRCh38]
Chr7:150648638 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys) single nucleotide variant Congenital long QT syndrome [RCV000058013]|Long QT syndrome [RCV000157265]|not provided [RCV000182032] Chr7:150951546 [GRCh38]
Chr7:150648634 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1853C>G (p.Thr618Ser) single nucleotide variant Congenital long QT syndrome [RCV000058014] Chr7:150951540 [GRCh38]
Chr7:150648628 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1853C>T (p.Thr618Ile) single nucleotide variant Cardiovascular phenotype [RCV002408565]|Long QT syndrome [RCV001376739]|Short QT syndrome [RCV000058015] Chr7:150951540 [GRCh38]
Chr7:150648628 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.185G>A (p.Arg62Gln) single nucleotide variant Congenital long QT syndrome [RCV000058016]|Long QT syndrome [RCV001215033] Chr7:150974833 [GRCh38]
Chr7:150671921 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn) single nucleotide variant Congenital long QT syndrome [RCV000058017]|Long QT syndrome [RCV001208803]|Primary familial hypertrophic cardiomyopathy [RCV000845307]|not provided [RCV001781395] Chr7:150951531 [GRCh38]
Chr7:150648619 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1863C>G (p.Ser621Arg) single nucleotide variant Congenital long QT syndrome [RCV000058018] Chr7:150951530 [GRCh38]
Chr7:150648618 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1864C>T (p.Leu622Phe) single nucleotide variant Congenital long QT syndrome [RCV000058019]|Long QT syndrome [RCV000552720] Chr7:150951529 [GRCh38]
Chr7:150648617 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1868C>T (p.Thr623Ile) single nucleotide variant Congenital long QT syndrome [RCV000058020]|Long QT syndrome [RCV003531956] Chr7:150951525 [GRCh38]
Chr7:150648613 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1874T>A (p.Val625Glu) single nucleotide variant Congenital long QT syndrome [RCV000058021] Chr7:150951519 [GRCh38]
Chr7:150648607 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1876G>A (p.Gly626Ser) single nucleotide variant Congenital long QT syndrome [RCV000058022]|Long QT syndrome 2 [RCV000240640]|not provided [RCV001545650] Chr7:150951517 [GRCh38]
Chr7:150648605 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1877G>A (p.Gly626Asp) single nucleotide variant Congenital long QT syndrome [RCV000058023]|Long QT syndrome [RCV001854200] Chr7:150951516 [GRCh38]
Chr7:150648604 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1877G>C (p.Gly626Ala) single nucleotide variant Congenital long QT syndrome [RCV000058024] Chr7:150951516 [GRCh38]
Chr7:150648604 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1877G>T (p.Gly626Val) single nucleotide variant Congenital long QT syndrome [RCV000058025]|Long QT syndrome [RCV003531957] Chr7:150951516 [GRCh38]
Chr7:150648604 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1879T>A (p.Phe627Ile) single nucleotide variant Congenital long QT syndrome [RCV000058026] Chr7:150951514 [GRCh38]
Chr7:150648602 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1879T>C (p.Phe627Leu) single nucleotide variant Congenital long QT syndrome [RCV000058027]|Long QT syndrome [RCV002513755] Chr7:150951514 [GRCh38]
Chr7:150648602 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1881C>G (p.Phe627Leu) single nucleotide variant Congenital long QT syndrome [RCV000058028] Chr7:150951512 [GRCh38]
Chr7:150648600 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1883G>C (p.Gly628Ala) single nucleotide variant Congenital long QT syndrome [RCV000058030] Chr7:150951510 [GRCh38]
Chr7:150648598 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1883G>T (p.Gly628Val) single nucleotide variant Congenital long QT syndrome [RCV000058031] Chr7:150951510 [GRCh38]
Chr7:150648598 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1885A>G (p.Asn629Asp) single nucleotide variant Congenital long QT syndrome [RCV000058032]|not provided [RCV000181822] Chr7:150951508 [GRCh38]
Chr7:150648596 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1886A>C (p.Asn629Thr) single nucleotide variant Congenital long QT syndrome [RCV000058033]|Long QT syndrome [RCV000475088]|not provided [RCV000413164] Chr7:150951507 [GRCh38]
Chr7:150648595 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser) single nucleotide variant Congenital long QT syndrome [RCV000058034]|Long QT syndrome 2 [RCV000678941]|Long QT syndrome [RCV000781486]|Short QT syndrome type 1 [RCV000763171]|not provided [RCV000181823] Chr7:150951507 [GRCh38]
Chr7:150648595 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1886A>T (p.Asn629Ile) single nucleotide variant Congenital long QT syndrome [RCV000058035]|Long QT syndrome [RCV002513756] Chr7:150951507 [GRCh38]
Chr7:150648595 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1887C>A (p.Asn629Lys) single nucleotide variant Congenital long QT syndrome [RCV000058036]|Long QT syndrome [RCV001854201] Chr7:150951506 [GRCh38]
Chr7:150648594 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1888G>C (p.Val630Leu) single nucleotide variant Congenital long QT syndrome [RCV000058037]|Long QT syndrome 2 [RCV002470745]|Long QT syndrome [RCV002513757] Chr7:150951505 [GRCh38]
Chr7:150648593 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1889T>C (p.Val630Ala) single nucleotide variant Congenital long QT syndrome [RCV000058038] Chr7:150951504 [GRCh38]
Chr7:150648592 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1891T>G (p.Ser631Ala) single nucleotide variant Congenital long QT syndrome [RCV000058039] Chr7:150951502 [GRCh38]
Chr7:150648590 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1894C>T (p.Pro632Ser) single nucleotide variant Cardiovascular phenotype [RCV000621397]|Congenital long QT syndrome [RCV000058040]|not provided [RCV000181824] Chr7:150951499 [GRCh38]
Chr7:150648587 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1897A>G (p.Asn633Asp) single nucleotide variant Congenital long QT syndrome [RCV000058041] Chr7:150951496 [GRCh38]
Chr7:150648584 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser) single nucleotide variant Cardiovascular phenotype [RCV000617489]|Congenital long QT syndrome [RCV000058042]|KCNH2-related condition [RCV003390760]|Long QT syndrome 2 [RCV000678919]|Long QT syndrome [RCV000799027]|not provided [RCV000181825] Chr7:150951495 [GRCh38]
Chr7:150648583 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.1898A>T (p.Asn633Ile) single nucleotide variant Congenital long QT syndrome [RCV000058043] Chr7:150951495 [GRCh38]
Chr7:150648583 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1901C>T (p.Thr634Ile) single nucleotide variant Congenital long QT syndrome [RCV000058044]|Long QT syndrome [RCV001037512] Chr7:150951492 [GRCh38]
Chr7:150648580 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1903A>G (p.Asn635Asp) single nucleotide variant Congenital long QT syndrome [RCV000058045] Chr7:150951490 [GRCh38]
Chr7:150648578 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1904A>T (p.Asn635Ile) single nucleotide variant Cardiovascular phenotype [RCV002408566]|Congenital long QT syndrome [RCV000058046]|Long QT syndrome [RCV001207618] Chr7:150951489 [GRCh38]
Chr7:150648577 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1905C>G (p.Asn635Lys) single nucleotide variant Congenital long QT syndrome [RCV000058047] Chr7:150951488 [GRCh38]
Chr7:150648576 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1909G>A (p.Glu637Lys) single nucleotide variant Congenital long QT syndrome [RCV000058048]|Long QT syndrome [RCV000691309] Chr7:150951484 [GRCh38]
Chr7:150648572 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1910A>G (p.Glu637Gly) single nucleotide variant Congenital long QT syndrome [RCV000058049] Chr7:150951483 [GRCh38]
Chr7:150648571 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1911G>C (p.Glu637Asp) single nucleotide variant Cardiovascular phenotype [RCV002408567]|Congenital long QT syndrome [RCV000058050]|Long QT syndrome [RCV002513758] Chr7:150951482 [GRCh38]
Chr7:150648570 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1912A>G (p.Lys638Glu) single nucleotide variant Congenital long QT syndrome [RCV000058051]|Long QT syndrome [RCV001854202] Chr7:150951481 [GRCh38]
Chr7:150648569 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1914G>T (p.Lys638Asn) single nucleotide variant Congenital long QT syndrome [RCV000058052] Chr7:150951479 [GRCh38]
Chr7:150648567 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1918T>G (p.Phe640Val) single nucleotide variant Congenital long QT syndrome [RCV000058053] Chr7:150951475 [GRCh38]
Chr7:150648563 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.191G>A (p.Cys64Tyr) single nucleotide variant Congenital long QT syndrome [RCV000058054] Chr7:150974827 [GRCh38]
Chr7:150671915 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1920C>A (p.Phe640Leu) single nucleotide variant Congenital long QT syndrome [RCV000058055]|Long QT syndrome 2 [RCV000234804] Chr7:150951473 [GRCh38]
Chr7:150648561 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1922C>T (p.Ser641Phe) single nucleotide variant Congenital long QT syndrome [RCV000058056]|Long QT syndrome [RCV000803218] Chr7:150951471 [GRCh38]
Chr7:150648559 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.192C>G (p.Cys64Trp) single nucleotide variant Congenital long QT syndrome [RCV000058057] Chr7:150974826 [GRCh38]
Chr7:150671914 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1930G>C (p.Val644Leu) single nucleotide variant Congenital long QT syndrome [RCV000058058] Chr7:150951463 [GRCh38]
Chr7:150648551 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1930G>T (p.Val644Phe) single nucleotide variant Congenital long QT syndrome [RCV000058059]|Long QT syndrome [RCV001296752] Chr7:150951463 [GRCh38]
Chr7:150648551 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1933A>G (p.Met645Val) single nucleotide variant Congenital long QT syndrome [RCV000058060]|not provided [RCV000181830] Chr7:150951460 [GRCh38]
Chr7:150648548 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1933A>T (p.Met645Leu) single nucleotide variant Congenital long QT syndrome [RCV000058061] Chr7:150951460 [GRCh38]
Chr7:150648548 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1935G>A (p.Met645Ile) single nucleotide variant Congenital long QT syndrome [RCV000058062]|not provided [RCV000431767] Chr7:150951458 [GRCh38]
Chr7:150648546 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1942G>A (p.Gly648Ser) single nucleotide variant Congenital long QT syndrome [RCV000058064] Chr7:150951451 [GRCh38]
Chr7:150648539 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1945T>C (p.Ser649Pro) single nucleotide variant Congenital long QT syndrome [RCV000058065] Chr7:150951448 [GRCh38]
Chr7:150648536 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1946C>T (p.Ser649Phe) single nucleotide variant Congenital long QT syndrome [RCV000058066]|Long QT syndrome [RCV001041068] Chr7:150951120 [GRCh38]
Chr7:150648208 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1967T>G (p.Phe656Cys) single nucleotide variant Congenital long QT syndrome [RCV000058067] Chr7:150951099 [GRCh38]
Chr7:150648187 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser) single nucleotide variant Cardiovascular phenotype [RCV003162442]|Congenital long QT syndrome [RCV000058068]|Long QT syndrome [RCV000205745] Chr7:150951097 [GRCh38]
Chr7:150648185 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1969G>C (p.Gly657Arg) single nucleotide variant Congenital long QT syndrome [RCV000058069] Chr7:150951097 [GRCh38]
Chr7:150648185 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1969G>T (p.Gly657Cys) single nucleotide variant Congenital long QT syndrome [RCV000058070] Chr7:150951097 [GRCh38]
Chr7:150648185 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.196T>G (p.Cys66Gly) single nucleotide variant Congenital long QT syndrome [RCV000058071] Chr7:150974822 [GRCh38]
Chr7:150671910 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu) single nucleotide variant Cardiovascular phenotype [RCV000621327]|Congenital long QT syndrome [RCV000058072]|Long QT syndrome 2 [RCV000851290]|Long QT syndrome [RCV000468503]|not provided [RCV000181833] Chr7:150951087 [GRCh38]
Chr7:150648175 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.1985T>C (p.Ile662Thr) single nucleotide variant Congenital long QT syndrome [RCV000058073] Chr7:150951081 [GRCh38]
Chr7:150648169 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.1A>T (p.Met1Leu) single nucleotide variant Congenital long QT syndrome [RCV000058074] Chr7:150977913 [GRCh38]
Chr7:150675001 [GRCh37]
Chr7:7q36.1		 likely pathogenic|not provided
NM_000238.4(KCNH2):c.202T>C (p.Phe68Leu) single nucleotide variant Congenital long QT syndrome [RCV000058075]|not provided [RCV000181933] Chr7:150974816 [GRCh38]
Chr7:150671904 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.2033T>C (p.Leu678Pro) single nucleotide variant Congenital long QT syndrome [RCV000058076]|Long QT syndrome [RCV000232888] Chr7:150951033 [GRCh38]
Chr7:150648121 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2059C>T (p.His687Tyr) single nucleotide variant Cardiac arrhythmia [RCV003591660]|Congenital long QT syndrome [RCV000058077] Chr7:150951007 [GRCh38]
Chr7:150648095 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.206T>C (p.Leu69Pro) single nucleotide variant Congenital long QT syndrome [RCV000058078]|Long QT syndrome 2 [RCV002470746] Chr7:150974812 [GRCh38]
Chr7:150671900 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2078T>C (p.Leu693Pro) single nucleotide variant Congenital long QT syndrome [RCV000058079]|Inborn genetic diseases [RCV000624294]|Long QT syndrome [RCV000546253]|not provided [RCV000181836] Chr7:150950988 [GRCh38]
Chr7:150648076 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2086C>T (p.Arg696Cys) single nucleotide variant Congenital long QT syndrome [RCV000058080]|Long QT syndrome [RCV000802656] Chr7:150950980 [GRCh38]
Chr7:150648068 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2087G>C (p.Arg696Pro) single nucleotide variant Congenital long QT syndrome [RCV000058081] Chr7:150950979 [GRCh38]
Chr7:150648067 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.208C>A (p.His70Asn) single nucleotide variant Congenital long QT syndrome [RCV000058082] Chr7:150974810 [GRCh38]
Chr7:150671898 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.209A>G (p.His70Arg) single nucleotide variant Cardiovascular phenotype [RCV002415513]|Congenital long QT syndrome [RCV000058083]|Long QT syndrome [RCV000460303]|not provided [RCV000181934] Chr7:150974809 [GRCh38]
Chr7:150671897 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.2117C>G (p.Ser706Cys) single nucleotide variant Congenital long QT syndrome [RCV000058084] Chr7:150950949 [GRCh38]
Chr7:150648037 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2117C>T (p.Ser706Phe) single nucleotide variant Acquired long QT syndrome [RCV000058085] Chr7:150950949 [GRCh38]
Chr7:150648037 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.211G>C (p.Gly71Arg) single nucleotide variant Congenital long QT syndrome [RCV000058086]|Long QT syndrome [RCV001194446]|not provided [RCV000181935] Chr7:150974807 [GRCh38]
Chr7:150671895 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val) single nucleotide variant Cardiac arrhythmia [RCV001841705]|Congenital long QT syndrome [RCV000058087]|Long QT syndrome [RCV000148537]|not provided [RCV000181838] Chr7:150950935 [GRCh38]
Chr7:150648023 [GRCh37]
Chr7:7q36.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln) single nucleotide variant Cardiovascular phenotype [RCV000588659]|Congenital long QT syndrome [RCV000058088]|Long QT syndrome 2 [RCV001258077]|Long QT syndrome [RCV000463612]|not provided [RCV000786141] Chr7:150974803 [GRCh38]
Chr7:150671891 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000238.4(KCNH2):c.215C>G (p.Pro72Arg) single nucleotide variant Congenital long QT syndrome [RCV000058089]|Long QT syndrome [RCV000464288] Chr7:150974803 [GRCh38]
Chr7:150671891 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.215C>T (p.Pro72Leu) single nucleotide variant Cardiovascular phenotype [RCV002415514]|Congenital long QT syndrome [RCV000058090]|Long QT syndrome [RCV002513759]|not provided [RCV000181938] Chr7:150974803 [GRCh38]
Chr7:150671891 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2162C>T (p.Pro721Leu) single nucleotide variant Congenital long QT syndrome [RCV000058091]|Long QT syndrome [RCV000458802] Chr7:150950404 [GRCh38]
Chr7:150647492 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.2167T>C (p.Cys723Arg) single nucleotide variant not provided [RCV000058092] Chr7:150950399 [GRCh38]
Chr7:150647487 [GRCh37]
Chr7:7q36.1		 uncertain significance|not provided
NM_000238.4(KCNH2):c.2182A>T (p.Ile728Phe) single nucleotide variant Congenital long QT syndrome [RCV000058093]|Long QT syndrome [RCV003647742] Chr7:150950384 [GRCh38]
Chr7:150647472 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2204C>T (p.Ser735Leu) single nucleotide variant Congenital long QT syndrome [RCV000058094]|Long QT syndrome [RCV000196406]|not provided [RCV000181842] Chr7:150950362 [GRCh38]
Chr7:150647450 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.220A>C (p.Thr74Pro) single nucleotide variant Congenital long QT syndrome [RCV000058095] Chr7:150974798 [GRCh38]
Chr7:150671886 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.221C>G (p.Thr74Arg) single nucleotide variant Congenital long QT syndrome [RCV000058096]|Long QT syndrome [RCV001060143]|not provided [RCV000182051] Chr7:150974797 [GRCh38]
Chr7:150671885 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.221C>T (p.Thr74Met) single nucleotide variant Long QT syndrome [RCV000807020]|Short QT syndrome type 1 [RCV002247457]|not provided [RCV000058097] Chr7:150974797 [GRCh38]
Chr7:150671885 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val) single nucleotide variant Congenital long QT syndrome [RCV000058098]|not provided [RCV000181844]|not specified [RCV000454509] Chr7:150950320 [GRCh38]
Chr7:150647408 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) single nucleotide variant Cardiac arrhythmia [RCV001841706]|Cardiovascular phenotype [RCV000621587]|Congenital long QT syndrome [RCV000058099]|Long QT syndrome [RCV000631584]|not provided [RCV000181845] Chr7:150950312 [GRCh38]
Chr7:150647400 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.2257G>T (p.Ala753Ser) single nucleotide variant Cardiac arrhythmia [RCV001841707]|Congenital long QT syndrome [RCV000058101] Chr7:150950309 [GRCh38]
Chr7:150647397 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val) single nucleotide variant Acquired long QT syndrome [RCV000058102]|Long QT syndrome 2 [RCV001031014]|Long QT syndrome [RCV002514287] Chr7:150950300 [GRCh38]
Chr7:150647388 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2271G>C (p.Lys757Asn) single nucleotide variant Congenital long QT syndrome [RCV000058103] Chr7:150950295 [GRCh38]
Chr7:150647383 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2299G>T (p.Asp767Tyr) single nucleotide variant Congenital long QT syndrome [RCV000058104] Chr7:150950267 [GRCh38]
Chr7:150647355 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2309T>C (p.Val770Ala) single nucleotide variant Congenital long QT syndrome [RCV000058105] Chr7:150950257 [GRCh38]
Chr7:150647345 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr) single nucleotide variant Congenital long QT syndrome [RCV000058106]|Long QT syndrome 2 [RCV000208316]|Long QT syndrome [RCV003531958]|not provided [RCV000182045] Chr7:150950246 [GRCh38]
Chr7:150647334 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.232G>C (p.Ala78Pro) single nucleotide variant Congenital long QT syndrome [RCV000058107] Chr7:150974786 [GRCh38]
Chr7:150671874 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2354G>C (p.Gly785Ala) single nucleotide variant Congenital long QT syndrome [RCV000058109] Chr7:150950212 [GRCh38]
Chr7:150647300 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2354G>T (p.Gly785Val) single nucleotide variant Congenital long QT syndrome [RCV000058110] Chr7:150950212 [GRCh38]
Chr7:150647300 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2362G>A (p.Glu788Lys) single nucleotide variant Congenital long QT syndrome [RCV000058111]|Long QT syndrome [RCV000230704] Chr7:150950204 [GRCh38]
Chr7:150647292 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.2364G>C (p.Glu788Asp) single nucleotide variant Congenital long QT syndrome [RCV000058112]|Long QT syndrome [RCV002513760] Chr7:150950202 [GRCh38]
Chr7:150647290 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) single nucleotide variant Brugada syndrome 1 [RCV001778698]|Cardiac arrhythmia [RCV001841708]|Cardiovascular phenotype [RCV000618893]|Congenital long QT syndrome [RCV000058113]|Long QT syndrome 2 [RCV001162548]|Long QT syndrome [RCV000148535]|not provided [RCV000586962]|not specified [RCV002228167] Chr7:150950195 [GRCh38]
Chr7:150647283 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.238G>C (p.Ala80Pro) single nucleotide variant Congenital long QT syndrome [RCV000058114] Chr7:150974780 [GRCh38]
Chr7:150671868 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2398G>T (p.Gly800Trp) single nucleotide variant Congenital long QT syndrome [RCV000058115] Chr7:150950168 [GRCh38]
Chr7:150647256 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2399G>A (p.Gly800Glu) single nucleotide variant Congenital long QT syndrome [RCV000058116] Chr7:150949049 [GRCh38]
Chr7:150646137 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.239C>T (p.Ala80Val) single nucleotide variant Sudden cardiac death [RCV000058117] Chr7:150974779 [GRCh38]
Chr7:150671867 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2414T>C (p.Phe805Ser) single nucleotide variant Congenital long QT syndrome [RCV000058118]|not provided [RCV000182046] Chr7:150949034 [GRCh38]
Chr7:150646122 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys) single nucleotide variant Cardiovascular phenotype [RCV000621445]|Congenital long QT syndrome [RCV000058119]|Long QT syndrome [RCV000474113]|not provided [RCV000181862] Chr7:150949034 [GRCh38]
Chr7:150646122 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.2417G>A (p.Gly806Glu) single nucleotide variant Cardiovascular phenotype [RCV003162443]|Congenital long QT syndrome [RCV000058120]|Long QT syndrome [RCV001362440]|not provided [RCV000181863] Chr7:150949031 [GRCh38]
Chr7:150646119 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.243G>C (p.Gln81His) single nucleotide variant Congenital long QT syndrome [RCV000058121]|Long QT syndrome 1 [RCV000714904]|Long QT syndrome 2 [RCV002470747]|Long QT syndrome [RCV000702044] Chr7:150974775 [GRCh38]
Chr7:150671863 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2452T>C (p.Ser818Pro) single nucleotide variant Congenital long QT syndrome [RCV000058122] Chr7:150948996 [GRCh38]
Chr7:150646084 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2458G>A (p.Gly820Arg) single nucleotide variant Cardiac arrhythmia [RCV001841709]|Congenital long QT syndrome [RCV000058124]|Long QT syndrome [RCV002513761]|Short QT syndrome type 1 [RCV002483095]|not provided [RCV000429479] Chr7:150948990 [GRCh38]
Chr7:150646078 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) single nucleotide variant Cardiovascular phenotype [RCV000618449]|Congenital long QT syndrome [RCV000058126]|Long QT syndrome [RCV000234770]|not provided [RCV000786142] Chr7:150948981 [GRCh38]
Chr7:150646069 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.2477C>T (p.Thr826Ile) single nucleotide variant Congenital long QT syndrome [RCV000058127]|not provided [RCV000181868] Chr7:150948971 [GRCh38]
Chr7:150646059 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2503C>T (p.Arg835Trp) single nucleotide variant Congenital long QT syndrome [RCV000058128] Chr7:150948945 [GRCh38]
Chr7:150646033 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2509G>A (p.Asp837Asn) single nucleotide variant Congenital long QT syndrome [RCV000058129]|Long QT syndrome 2 [RCV000240628]|Long QT syndrome [RCV000631627] Chr7:150948939 [GRCh38]
Chr7:150646027 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.2509G>T (p.Asp837Tyr) single nucleotide variant Congenital long QT syndrome [RCV000058130]|not provided [RCV002272049] Chr7:150948939 [GRCh38]
Chr7:150646027 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) single nucleotide variant Cardiac arrhythmia [RCV001841710]|Cardiovascular phenotype [RCV002433554]|Congenital long QT syndrome [RCV000058131]|Long QT syndrome 2 [RCV000677334]|Long QT syndrome [RCV000469039]|not provided [RCV000181873] Chr7:150948938 [GRCh38]
Chr7:150646026 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.2536C>A (p.Pro846Thr) single nucleotide variant Congenital long QT syndrome [RCV000058132] Chr7:150948912 [GRCh38]
Chr7:150646000 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2536C>T (p.Pro846Ser) single nucleotide variant Congenital long QT syndrome [RCV000058133]|KCNH2-related condition [RCV003407442]|Long QT syndrome [RCV000464496]|not provided [RCV000181874] Chr7:150948912 [GRCh38]
Chr7:150646000 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.253G>C (p.Ala85Pro) single nucleotide variant Congenital long QT syndrome [RCV000058134]|not provided [RCV002285264] Chr7:150974765 [GRCh38]
Chr7:150671853 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.254C>T (p.Ala85Val) single nucleotide variant Congenital long QT syndrome [RCV000058135]|not provided [RCV003162444] Chr7:150974764 [GRCh38]
Chr7:150671852 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.2573T>C (p.Ile858Thr) single nucleotide variant Congenital long QT syndrome [RCV000058136] Chr7:150948875 [GRCh38]
Chr7:150645963 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.257T>C (p.Leu86Pro) single nucleotide variant Congenital long QT syndrome [RCV000058137]|Long QT syndrome [RCV003531959]|not provided [RCV001753474] Chr7:150974761 [GRCh38]
Chr7:150671849 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.257T>G (p.Leu86Arg) single nucleotide variant Congenital long QT syndrome [RCV000058138]|Short QT syndrome type 1 [RCV002247458] Chr7:150974761 [GRCh38]
Chr7:150671849 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2581A>C (p.Asn861His) single nucleotide variant Congenital long QT syndrome [RCV000058139] Chr7:150948867 [GRCh38]
Chr7:150645955 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2582A>C (p.Asn861Thr) single nucleotide variant Congenital long QT syndrome [RCV000058140] Chr7:150948866 [GRCh38]
Chr7:150645954 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2591A>G (p.Asp864Gly) single nucleotide variant Congenital long QT syndrome [RCV000058142]|Long QT syndrome [RCV001236852] Chr7:150948857 [GRCh38]
Chr7:150645945 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.260T>C (p.Leu87Pro) single nucleotide variant Congenital long QT syndrome [RCV000058143]|not provided [RCV001701488] Chr7:150974758 [GRCh38]
Chr7:150671846 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser) single nucleotide variant Brugada syndrome [RCV000171755]|Cardiac arrhythmia [RCV001841711]|Cardiovascular phenotype [RCV002453372]|KCNH2-related condition [RCV003964914]|Long QT syndrome [RCV001083512]|Short QT syndrome type 1 [RCV002498334]|not provided [RCV000058144]|not specified [RCV001194444] Chr7:150948519 [GRCh38]
Chr7:150645607 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.2624C>T (p.Thr875Met) single nucleotide variant Cardiac arrhythmia [RCV001841712]|Long QT syndrome [RCV001069901]|not provided [RCV000058145]|not specified [RCV000181737] Chr7:150948512 [GRCh38]
Chr7:150645600 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.2635G>C (p.Gly879Arg) single nucleotide variant Cardiovascular phenotype [RCV003162445]|Congenital long QT syndrome [RCV000058146] Chr7:150948501 [GRCh38]
Chr7:150645589 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys) single nucleotide variant Cardiac arrhythmia [RCV001841713]|Cardiovascular phenotype [RCV002453373]|Congenital long QT syndrome [RCV000058147]|Long QT syndrome [RCV000148524]|Short QT syndrome type 1 [RCV002477188]|not provided [RCV003884345]|not specified [RCV000780364] Chr7:150948483 [GRCh38]
Chr7:150645571 [GRCh37]
Chr7:7q36.1		 pathogenic|benign|likely benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His) single nucleotide variant Cardiac arrhythmia [RCV001841714]|Cardiovascular phenotype [RCV002426617]|Congenital long QT syndrome [RCV000058148]|Long QT syndrome 2 [RCV000210414]|Long QT syndrome [RCV000148534]|not provided [RCV000438782]|not specified [RCV001193784] Chr7:150948476 [GRCh38]
Chr7:150645564 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2680C>T (p.Arg894Cys) single nucleotide variant Cardiovascular phenotype [RCV003162446]|Congenital long QT syndrome [RCV000058149]|Long QT syndrome [RCV000795899]|not provided [RCV000181880] Chr7:150948456 [GRCh38]
Chr7:150645544 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2681G>T (p.Arg894Leu) single nucleotide variant Congenital long QT syndrome [RCV000058150]|Long QT syndrome [RCV002514288] Chr7:150948455 [GRCh38]
Chr7:150645543 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met) single nucleotide variant Cardiac arrhythmia [RCV001841715]|Long QT syndrome 1 [RCV001256913]|Long QT syndrome 2 [RCV000988000]|Long QT syndrome [RCV000699702]|SUDDEN INFANT DEATH SYNDROME [RCV000058151]|not provided [RCV001588890] Chr7:150948452 [GRCh38]
Chr7:150645540 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr) single nucleotide variant Atrial fibrillation [RCV000171815]|Cardiac arrhythmia [RCV001841716]|Cardiovascular phenotype [RCV000249181]|Long QT syndrome 2 [RCV001095232]|Long QT syndrome [RCV000276195]|Short QT syndrome type 1 [RCV002504962]|not provided [RCV000058152]|not specified [RCV000223864] Chr7:150948446 [GRCh38]
Chr7:150645534 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg) single nucleotide variant Cardiac arrhythmia [RCV001841717]|Cardiovascular phenotype [RCV000621231]|Congenital long QT syndrome [RCV000058153]|Long QT syndrome [RCV000465531]|Short QT syndrome type 1 [RCV002498335]|not provided [RCV000767043]|not specified [RCV000181883] Chr7:150947864 [GRCh38]
Chr7:150644952 [GRCh37]
Chr7:7q36.1		 pathogenic|likely benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) single nucleotide variant Cardiac arrhythmia [RCV001841718]|Cardiovascular phenotype [RCV003298110]|Congenital long QT syndrome [RCV000058154]|Long QT syndrome 2 [RCV002470748]|Long QT syndrome [RCV000203863]|Short QT syndrome type 1 [RCV000765943]|not provided [RCV001699029]|not specified [RCV000455329] Chr7:150947854 [GRCh38]
Chr7:150644942 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu) single nucleotide variant Cardiac arrhythmia [RCV001841719]|Cardiovascular phenotype [RCV000621145]|Long QT syndrome [RCV000631580]|not provided [RCV000058155]|not specified [RCV001731351] Chr7:150947842 [GRCh38]
Chr7:150644930 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.2744C>T (p.Ala915Val) single nucleotide variant not provided [RCV000058157] Chr7:150947827 [GRCh38]
Chr7:150644915 [GRCh37]
Chr7:7q36.1		 benign|not provided
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) single nucleotide variant Cardiac arrhythmia [RCV001841720]|Cardiovascular phenotype [RCV002433555]|Long QT syndrome 2 [RCV001160952]|Long QT syndrome [RCV000699321]|Short QT syndrome type 1 [RCV002504963]|not provided [RCV000058158]|not specified [RCV000181888] Chr7:150947821 [GRCh38]
Chr7:150644909 [GRCh37]
Chr7:7q36.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.2758C>T (p.Arg920Trp) single nucleotide variant Cardiac arrhythmia [RCV001841721]|Congenital long QT syndrome [RCV000058159]|Long QT syndrome [RCV000167982]|not provided [RCV003421967] Chr7:150947813 [GRCh38]
Chr7:150644901 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2759G>A (p.Arg920Gln) single nucleotide variant Cardiac arrhythmia [RCV001841722]|Cardiovascular phenotype [RCV000618714]|Congenital long QT syndrome [RCV000058160]|Long QT syndrome [RCV001058527]|not provided [RCV001582555] Chr7:150947812 [GRCh38]
Chr7:150644900 [GRCh37]
Chr7:7q36.1		 pathogenic|likely benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.2764C>T (p.Arg922Trp) single nucleotide variant Cardiac arrhythmia [RCV003591661]|Congenital long QT syndrome [RCV000058161]|Long QT syndrome [RCV001053192] Chr7:150947807 [GRCh38]
Chr7:150644895 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2765G>A (p.Arg922Gln) single nucleotide variant Cardiac arrhythmia [RCV001841723]|Cardiovascular phenotype [RCV002433556]|Congenital long QT syndrome [RCV000058162]|Long QT syndrome [RCV000471859]|Short QT syndrome type 1 [RCV002483096] Chr7:150947806 [GRCh38]
Chr7:150644894 [GRCh37]
Chr7:7q36.1		 pathogenic|likely benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu) single nucleotide variant Cardiac arrhythmia [RCV001841724]|Cardiovascular phenotype [RCV000251484]|Congenital long QT syndrome [RCV000058163]|Long QT syndrome 2 [RCV000987999]|Long QT syndrome [RCV000817376]|not provided [RCV000181891] Chr7:150947800 [GRCh38]
Chr7:150644888 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala) single nucleotide variant Cardiac arrhythmia [RCV001841725]|Cardiovascular phenotype [RCV000619828]|Congenital long QT syndrome [RCV000058164]|Long QT syndrome [RCV000468983]|Short QT syndrome type 1 [RCV001198823]|not specified [RCV000454684] Chr7:150947800 [GRCh38]
Chr7:150644888 [GRCh37]
Chr7:7q36.1		 pathogenic|likely benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.2773G>A (p.Gly925Arg) single nucleotide variant not provided [RCV000058165] Chr7:150947798 [GRCh38]
Chr7:150644886 [GRCh37]
Chr7:7q36.1		 uncertain significance|not provided
NM_000238.4(KCNH2):c.2810G>A (p.Ser937Asn) single nucleotide variant Cardiac arrhythmia [RCV001841726]|Congenital long QT syndrome [RCV000058166]|Long QT syndrome [RCV000631729]|Short QT syndrome type 1 [RCV002490644]|not provided [RCV000181897] Chr7:150947761 [GRCh38]
Chr7:150644849 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.281T>G (p.Val94Gly) single nucleotide variant Congenital long QT syndrome [RCV000058167]|Long QT syndrome [RCV000809130] Chr7:150974737 [GRCh38]
Chr7:150671825 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.2842C>A (p.Arg948Ser) single nucleotide variant Congenital long QT syndrome [RCV000058168] Chr7:150947729 [GRCh38]
Chr7:150644817 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) single nucleotide variant Cardiac arrhythmia [RCV001841727]|Congenital long QT syndrome [RCV000058170]|Long QT syndrome 2 [RCV000578446]|Long QT syndrome [RCV000794762]|not provided [RCV000182047]|not specified [RCV001358716] Chr7:150947728 [GRCh38]
Chr7:150644816 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys) single nucleotide variant Cardiac arrhythmia [RCV001841728]|Cardiovascular phenotype [RCV000588938]|Long QT syndrome [RCV000685653]|SUDDEN INFANT DEATH SYNDROME [RCV000058171]|not provided [RCV000181898] Chr7:150947711 [GRCh38]
Chr7:150644799 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) single nucleotide variant Cardiac arrhythmia [RCV001841729]|Cardiovascular phenotype [RCV003162447]|Congenital long QT syndrome [RCV000058172]|Long QT syndrome [RCV000509284]|not provided [RCV000413036] Chr7:150947708 [GRCh38]
Chr7:150644796 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.286A>G (p.Ile96Val) single nucleotide variant Congenital long QT syndrome [RCV000058173] Chr7:150974732 [GRCh38]
Chr7:150671820 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2879G>A (p.Ser960Asn) single nucleotide variant Congenital long QT syndrome [RCV000058174] Chr7:150947692 [GRCh38]
Chr7:150644780 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.287T>C (p.Ile96Thr) single nucleotide variant Congenital long QT syndrome [RCV000058175] Chr7:150974731 [GRCh38]
Chr7:150671819 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2887C>A (p.Pro963Thr) single nucleotide variant Cardiac arrhythmia [RCV001841730]|Cardiovascular phenotype [RCV002433557]|Congenital long QT syndrome [RCV000058176]|Long QT syndrome [RCV003531960]|Short QT syndrome type 1 [RCV002483097]|not provided [RCV000756285] Chr7:150947684 [GRCh38]
Chr7:150644772 [GRCh37]
Chr7:7q36.1		 pathogenic|likely benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.2893G>A (p.Gly965Arg) single nucleotide variant Cardiac arrhythmia [RCV003591662]|Long QT syndrome 2 [RCV000735253]|Long QT syndrome [RCV001363309]|not provided [RCV000058177] Chr7:150947678 [GRCh38]
Chr7:150644766 [GRCh37]
Chr7:7q36.1		 benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.2900C>T (p.Pro967Leu) single nucleotide variant Cardiac arrhythmia [RCV001841731]|Cardiovascular phenotype [RCV000252864]|Long QT syndrome [RCV001080750]|not provided [RCV000058178] Chr7:150947671 [GRCh38]
Chr7:150644759 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.2903C>T (p.Pro968Leu) single nucleotide variant Cardiac arrhythmia [RCV001841732]|Long QT syndrome 2 [RCV001160948]|Long QT syndrome [RCV001854203]|Short QT syndrome type 1 [RCV002504964]|not provided [RCV000058179] Chr7:150947668 [GRCh38]
Chr7:150644756 [GRCh37]
Chr7:7q36.1		 uncertain significance|not provided
NM_000238.4(KCNH2):c.2932G>A (p.Glu978Lys) single nucleotide variant Cardiac arrhythmia [RCV001841733]|Cardiovascular phenotype [RCV002433558]|Long QT syndrome [RCV001080871]|not provided [RCV000058180]|not specified [RCV000421078] Chr7:150947639 [GRCh38]
Chr7:150644727 [GRCh37]
Chr7:7q36.1		 benign|likely benign|not provided
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly) single nucleotide variant Cardiac arrhythmia [RCV001841734]|Cardiovascular phenotype [RCV000621297]|Long QT syndrome [RCV001086448]|not provided [RCV000058181]|not specified [RCV001002378] Chr7:150947630 [GRCh38]
Chr7:150644718 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) single nucleotide variant Cardiac arrhythmia [RCV001841735]|Cardiovascular phenotype [RCV002433559]|Congenital long QT syndrome [RCV000058182]|Long QT syndrome 2 [RCV001159570]|Long QT syndrome [RCV000148532]|not provided [RCV000724866]|not specified [RCV000181901] Chr7:150947623 [GRCh38]
Chr7:150644711 [GRCh37]
Chr7:7q36.1		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.2954A>G (p.Asn985Ser) single nucleotide variant Cardiac arrhythmia [RCV001841736]|Long QT syndrome [RCV000698170]|not provided [RCV000058183] Chr7:150947617 [GRCh38]
Chr7:150644705 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.296A>C (p.Tyr99Ser) single nucleotide variant Congenital long QT syndrome [RCV000058184] Chr7:150974722 [GRCh38]
Chr7:150671810 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile) single nucleotide variant Congenital long QT syndrome [RCV000058185]|Long QT syndrome 2 [RCV001248786]|not provided [RCV000181903] Chr7:150947493 [GRCh38]
Chr7:150644581 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.298C>T (p.Arg100Trp) single nucleotide variant Cardiovascular phenotype [RCV002433560]|Congenital long QT syndrome [RCV000058187]|Long QT syndrome [RCV001230350] Chr7:150974720 [GRCh38]
Chr7:150671808 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.299G>A (p.Arg100Gln) single nucleotide variant Congenital long QT syndrome [RCV000058188]|Long QT syndrome [RCV001301364]|not provided [RCV000181949] Chr7:150974719 [GRCh38]
Chr7:150671807 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.3014G>A (p.Arg1005Gln) single nucleotide variant Cardiac arrhythmia [RCV001841737]|Congenital long QT syndrome [RCV000058189]|Long QT syndrome [RCV001854204]|Short QT syndrome type 1 [RCV002490645] Chr7:150947466 [GRCh38]
Chr7:150644554 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.301A>G (p.Lys101Glu) single nucleotide variant Congenital long QT syndrome [RCV000058190]|Long QT syndrome [RCV001364660]|Short QT syndrome type 1 [RCV002247459]|not provided [RCV000182053] Chr7:150974717 [GRCh38]
Chr7:150671805 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.3020G>A (p.Arg1007His) single nucleotide variant Cardiac arrhythmia [RCV001841738]|Congenital long QT syndrome [RCV000058191]|Long QT syndrome [RCV000695622]|Short QT syndrome type 1 [RCV002477189]|not provided [RCV002223782] Chr7:150947460 [GRCh38]
Chr7:150644548 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.305A>C (p.Asp102Ala) single nucleotide variant Congenital long QT syndrome [RCV000058192]|Long QT syndrome [RCV001854205] Chr7:150974713 [GRCh38]
Chr7:150671801 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.305A>T (p.Asp102Val) single nucleotide variant Congenital long QT syndrome [RCV000058193] Chr7:150974713 [GRCh38]
Chr7:150671801 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.3095G>A (p.Arg1032Gln) single nucleotide variant Cardiac arrhythmia [RCV001841739]|Congenital long QT syndrome [RCV000058194]|Long QT syndrome 2 [RCV000987997]|Long QT syndrome [RCV000703148]|Short QT syndrome type 1 [RCV002490646] Chr7:150947385 [GRCh38]
Chr7:150644473 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp) single nucleotide variant Cardiac arrhythmia [RCV001841740]|Cardiovascular phenotype [RCV003298111]|Congenital long QT syndrome [RCV000058195]|Long QT syndrome 1 [RCV001256912]|Long QT syndrome [RCV000685270]|Short QT syndrome type 1 [RCV002483098]|not provided [RCV001664238] Chr7:150947383 [GRCh38]
Chr7:150644471 [GRCh37]
Chr7:7q36.1		 pathogenic|likely benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.3103C>T (p.Arg1035Trp) single nucleotide variant Cardiac arrhythmia [RCV001841741]|Long QT syndrome [RCV000473177]|Short QT syndrome type 1 [RCV002490647]|not provided [RCV000058196] Chr7:150947377 [GRCh38]
Chr7:150644465 [GRCh37]
Chr7:7q36.1		 benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp) single nucleotide variant Cardiac arrhythmia [RCV001841742]|Congenital long QT syndrome [RCV000058197]|Long QT syndrome [RCV000795860]|Short QT syndrome type 1 [RCV002477190]|not provided [RCV001548137]|not specified [RCV000454975] Chr7:150947373 [GRCh38]
Chr7:150644461 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.3109G>A (p.Asp1037Asn) single nucleotide variant Cardiac arrhythmia [RCV001841743]|Cardiovascular phenotype [RCV003298112]|Long QT syndrome [RCV001206913]|not provided [RCV000058198] Chr7:150947371 [GRCh38]
Chr7:150644459 [GRCh37]
Chr7:7q36.1		 benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met) single nucleotide variant Cardiac arrhythmia [RCV001841744]|Congenital long QT syndrome [RCV000058199]|KCNH2-related condition [RCV003894913]|Long QT syndrome 2 [RCV000987996]|Long QT syndrome [RCV001088304]|not provided [RCV000181911]|not specified [RCV001804794] Chr7:150947368 [GRCh38]
Chr7:150644456 [GRCh37]
Chr7:7q36.1		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.3118A>G (p.Ser1040Gly) single nucleotide variant Cardiac arrhythmia [RCV001841745]|Long QT syndrome [RCV001230841]|SUDDEN INFANT DEATH SYNDROME [RCV000058200]|Short QT syndrome type 1 [RCV002483099] Chr7:150947362 [GRCh38]
Chr7:150644450 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000143906]|Cardiac arrhythmia [RCV001841746]|Cardiovascular phenotype [RCV002321556]|Congenital long QT syndrome [RCV000058201]|Long QT syndrome [RCV000157268]|Primary dilated cardiomyopathy [RCV000143907] Chr7:150947347 [GRCh38]
Chr7:150644435 [GRCh37]
Chr7:7q36.1		 pathogenic|benign|likely benign|not provided
NM_000238.4(KCNH2):c.3146T>C (p.Leu1049Pro) single nucleotide variant Congenital long QT syndrome [RCV000058203] Chr7:150947334 [GRCh38]
Chr7:150644422 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln) single nucleotide variant Cardiac arrhythmia [RCV001841747]|Cardiovascular phenotype [RCV000246544]|Long QT syndrome [RCV000398697]|not provided [RCV000058204]|not specified [RCV000181743] Chr7:150947043 [GRCh38]
Chr7:150644131 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.3173C>A (p.Ala1058Glu) single nucleotide variant not provided [RCV000058205] Chr7:150947034 [GRCh38]
Chr7:150644122 [GRCh37]
Chr7:7q36.1		 benign|not provided
NM_000238.4(KCNH2):c.317T>A (p.Phe106Tyr) single nucleotide variant Congenital long QT syndrome [RCV000058206] Chr7:150959727 [GRCh38]
Chr7:150656815 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.318C>A (p.Phe106Leu) single nucleotide variant Congenital long QT syndrome [RCV000058207] Chr7:150959726 [GRCh38]
Chr7:150656814 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.3196C>G (p.Leu1066Val) single nucleotide variant Congenital long QT syndrome [RCV000058208]|Long QT syndrome [RCV003531961] Chr7:150947011 [GRCh38]
Chr7:150644099 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.3203A>G (p.Gln1068Arg) single nucleotide variant Cardiac arrhythmia [RCV001841748]|Cardiovascular phenotype [RCV000620371]|Long QT syndrome [RCV000200795]|not provided [RCV000058209] Chr7:150947004 [GRCh38]
Chr7:150644092 [GRCh37]
Chr7:7q36.1		 likely pathogenic|benign|likely benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.3224C>T (p.Pro1075Leu) single nucleotide variant Cardiac arrhythmia [RCV003591663]|Cardiovascular phenotype [RCV003298113]|Congenital long QT syndrome [RCV000058210]|Long QT syndrome 2 [RCV000987995]|Long QT syndrome [RCV000148530] Chr7:150946983 [GRCh38]
Chr7:150644071 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.322T>C (p.Cys108Arg) single nucleotide variant Congenital long QT syndrome [RCV000058211]|Long QT syndrome [RCV001040354] Chr7:150959722 [GRCh38]
Chr7:150656810 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.3233A>G (p.Tyr1078Cys) single nucleotide variant Congenital long QT syndrome [RCV000058212]|Long QT syndrome [RCV000684931]|Short QT syndrome type 1 [RCV002504965]|not specified [RCV000455396] Chr7:150946974 [GRCh38]
Chr7:150644062 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.326T>G (p.Leu109Arg) single nucleotide variant Long QT syndrome 2 [RCV000988006]|not provided [RCV000058213] Chr7:150959718 [GRCh38]
Chr7:150656806 [GRCh37]
Chr7:7q36.1		 benign|likely benign|not provided
NM_000238.4(KCNH2):c.3278C>T (p.Pro1093Leu) single nucleotide variant Cardiac arrhythmia [RCV001841749]|Congenital long QT syndrome [RCV000058214]|Long QT syndrome 2 [RCV001253513]|Long QT syndrome [RCV001309472]|Short QT syndrome type 1 [RCV002504966]|not specified [RCV000223703] Chr7:150946929 [GRCh38]
Chr7:150644017 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile) single nucleotide variant Cardiac arrhythmia [RCV001841750]|Cardiovascular phenotype [RCV000621550]|Long QT syndrome [RCV000701103]|not provided [RCV000058215]|not specified [RCV001731352] Chr7:150946918 [GRCh38]
Chr7:150644006 [GRCh37]
Chr7:7q36.1		 benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.3302C>T (p.Pro1101Leu) single nucleotide variant Congenital long QT syndrome [RCV000058216]|Long QT syndrome [RCV001854206]|Short QT syndrome type 1 [RCV002483100] Chr7:150946905 [GRCh38]
Chr7:150643993 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.3322C>G (p.Leu1108Val) single nucleotide variant Cardiac arrhythmia [RCV001841751]|Long QT syndrome 2 [RCV001164500]|Long QT syndrome [RCV001296616]|not provided [RCV000058217] Chr7:150946885 [GRCh38]
Chr7:150643973 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.332A>T (p.Asp111Val) single nucleotide variant Congenital long QT syndrome [RCV000058218] Chr7:150959712 [GRCh38]
Chr7:150656800 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.3343A>G (p.Met1115Val) single nucleotide variant Cardiac arrhythmia [RCV001841752]|Congenital long QT syndrome [RCV000058219]|Long QT syndrome [RCV001203991]|not provided [RCV000181916] Chr7:150945502 [GRCh38]
Chr7:150642590 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.3347C>T (p.Ala1116Val) single nucleotide variant Cardiac arrhythmia [RCV001841753]|Congenital long QT syndrome [RCV000058220]|Long QT syndrome [RCV001257224]|not provided [RCV002221485] Chr7:150945498 [GRCh38]
Chr7:150642586 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.3355G>C (p.Glu1119Gln) single nucleotide variant Cardiac arrhythmia [RCV001841754]|Long QT syndrome [RCV000820299]|not provided [RCV000058221] Chr7:150945490 [GRCh38]
Chr7:150642578 [GRCh37]
Chr7:7q36.1		 benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.3404G>A (p.Arg1135His) single nucleotide variant Long QT syndrome [RCV002514289]|Short QT syndrome [RCV000058222]|not provided [RCV002223783] Chr7:150945441 [GRCh38]
Chr7:150642529 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.340C>T (p.Pro114Ser) single nucleotide variant Congenital long QT syndrome [RCV000058223]|Long QT syndrome [RCV003531962] Chr7:150959704 [GRCh38]
Chr7:150656792 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.3430G>A (p.Ala1144Thr) single nucleotide variant Cardiovascular phenotype [RCV003162448]|Congenital long QT syndrome [RCV000058224]|Long QT syndrome [RCV001854207] Chr7:150945415 [GRCh38]
Chr7:150642503 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.343G>A (p.Val115Met) single nucleotide variant Cardiac arrhythmia [RCV003591664]|Cardiovascular phenotype [RCV002453374]|Congenital long QT syndrome [RCV000058225]|Long QT syndrome 2 [RCV000148529]|Long QT syndrome [RCV000226122]|Short QT syndrome type 1 [RCV002498336] Chr7:150959701 [GRCh38]
Chr7:150656789 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr) single nucleotide variant Cardiac arrhythmia [RCV001841755]|Cardiovascular phenotype [RCV002336209]|Congenital long QT syndrome [RCV000058226]|Long QT syndrome 2 [RCV001249221]|Long QT syndrome [RCV000691902]|Short QT syndrome type 1 [RCV000765941]|not provided [RCV001588891] Chr7:150945388 [GRCh38]
Chr7:150642476 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.3460G>A (p.Gly1154Ser) single nucleotide variant Cardiac arrhythmia [RCV001841756]|Long QT syndrome [RCV000631550]|not provided [RCV000058227] Chr7:150945385 [GRCh38]
Chr7:150642473 [GRCh37]
Chr7:7q36.1		 benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.3470C>T (p.Pro1157Leu) single nucleotide variant Cardiac arrhythmia [RCV001841757]|Long QT syndrome [RCV001321433]|SUDDEN INFANT DEATH SYNDROME [RCV000058228]|not provided [RCV000181918] Chr7:150945375 [GRCh38]
Chr7:150642463 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.371T>C (p.Met124Thr) single nucleotide variant Cardiovascular phenotype [RCV003162449]|Congenital long QT syndrome [RCV000058229] Chr7:150959673 [GRCh38]
Chr7:150656761 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.371T>G (p.Met124Arg) single nucleotide variant Congenital long QT syndrome [RCV000058230]|Long QT syndrome [RCV002514290] Chr7:150959673 [GRCh38]
Chr7:150656761 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.374T>G (p.Phe125Cys) single nucleotide variant Cardiovascular phenotype [RCV000246450]|Congenital long QT syndrome [RCV000058231]|Long QT syndrome [RCV001854208] Chr7:150959670 [GRCh38]
Chr7:150656758 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.388G>A (p.Glu130Lys) single nucleotide variant Cardiac arrhythmia [RCV001841758]|Congenital long QT syndrome [RCV000058232]|Long QT syndrome [RCV000688920] Chr7:150959656 [GRCh38]
Chr7:150656744 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) single nucleotide variant Cardiac arrhythmia [RCV001841759]|Cardiovascular phenotype [RCV000620293]|Hypertrophic cardiomyopathy [RCV000853031]|Long QT syndrome 2 [RCV000988005]|Long QT syndrome [RCV000148539]|not provided [RCV000058233]|not specified [RCV000181756] Chr7:150959622 [GRCh38]
Chr7:150656710 [GRCh37]
Chr7:7q36.1		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) single nucleotide variant Cardiac arrhythmia [RCV001841760]|Cardiovascular phenotype [RCV000618143]|Conduction disorder of the heart [RCV001256843]|Long QT syndrome 2 [RCV000988004]|Long QT syndrome [RCV000148528]|not provided [RCV000058234]|not specified [RCV000223902] Chr7:150959602 [GRCh38]
Chr7:150656690 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.446G>C (p.Gly149Ala) single nucleotide variant Cardiac arrhythmia [RCV003591665]|Congenital long QT syndrome [RCV000058235]|Long QT syndrome [RCV000706355]|Short QT syndrome type 1 [RCV000765948] Chr7:150959598 [GRCh38]
Chr7:150656686 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.47A>C (p.Asp16Ala) single nucleotide variant Congenital long QT syndrome [RCV000058236] Chr7:150977867 [GRCh38]
Chr7:150674955 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.491G>A (p.Arg164His) single nucleotide variant Cardiovascular phenotype [RCV003298114]|Congenital long QT syndrome [RCV000058237]|Long QT syndrome 2 [RCV000202703]|Long QT syndrome [RCV000473244]|Short QT syndrome type 1 [RCV002498337]|not provided [RCV002223182] Chr7:150958484 [GRCh38]
Chr7:150655572 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) single nucleotide variant Cardiovascular phenotype [RCV000617719]|Long QT syndrome 2 [RCV000157257]|Long QT syndrome [RCV000199086]|See cases [RCV002222158]|Short QT syndrome type 1 [RCV001196177]|not provided [RCV000058238]|not specified [RCV000181761] Chr7:150958449 [GRCh38]
Chr7:150655537 [GRCh37]
Chr7:7q36.1		 likely pathogenic|risk factor|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.542G>A (p.Arg181Gln) single nucleotide variant Cardiovascular phenotype [RCV000617359]|Long QT syndrome [RCV001080698]|not provided [RCV000058239] Chr7:150958433 [GRCh38]
Chr7:150655521 [GRCh37]
Chr7:7q36.1		 benign|likely benign|not provided
NM_000238.4(KCNH2):c.559G>A (p.Gly187Ser) single nucleotide variant not provided [RCV000058240] Chr7:150958416 [GRCh38]
Chr7:150655504 [GRCh37]
Chr7:7q36.1		 benign|not provided
NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr) single nucleotide variant Cardiovascular phenotype [RCV002345368]|KCNH2-related condition [RCV003974946]|Long QT syndrome [RCV000532958]|Short QT syndrome type 1 [RCV000765946]|not provided [RCV000058241]|not specified [RCV000780360] Chr7:150958407 [GRCh38]
Chr7:150655495 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.58C>G (p.Arg20Gly) single nucleotide variant Congenital long QT syndrome [RCV000058242]|Long QT syndrome [RCV001854209]|not provided [RCV001571031] Chr7:150977856 [GRCh38]
Chr7:150674944 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.607G>A (p.Ala203Thr) single nucleotide variant Cardiovascular phenotype [RCV000620158]|Long QT syndrome [RCV000690361]|not provided [RCV000058243] Chr7:150958368 [GRCh38]
Chr7:150655456 [GRCh37]
Chr7:7q36.1		 benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.644T>G (p.Val215Gly) single nucleotide variant not provided [RCV000058244] Chr7:150958331 [GRCh38]
Chr7:150655419 [GRCh37]
Chr7:7q36.1		 benign|not provided
NM_000238.4(KCNH2):c.652A>G (p.Met218Val) single nucleotide variant Cardiovascular phenotype [RCV003298115]|Congenital long QT syndrome [RCV000058245]|Long QT syndrome [RCV000690929]|Short QT syndrome type 1 [RCV002483101]|not provided [RCV000786144] Chr7:150958323 [GRCh38]
Chr7:150655411 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.65T>C (p.Phe22Ser) single nucleotide variant Congenital long QT syndrome [RCV000058246] Chr7:150977849 [GRCh38]
Chr7:150674937 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.707G>T (p.Gly236Val) single nucleotide variant Long QT syndrome [RCV000471386]|Short QT syndrome type 1 [RCV002490648]|not provided [RCV000058247] Chr7:150958268 [GRCh38]
Chr7:150655356 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.712G>A (p.Gly238Ser) single nucleotide variant Congenital long QT syndrome [RCV000058248]|Long QT syndrome [RCV003764729] Chr7:150958263 [GRCh38]
Chr7:150655351 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.722C>T (p.Pro241Leu) single nucleotide variant Cardiovascular phenotype [RCV003298116]|Congenital long QT syndrome [RCV000058249] Chr7:150958253 [GRCh38]
Chr7:150655341 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.724C>G (p.Arg242Gly) single nucleotide variant Congenital long QT syndrome [RCV000058250]|Long QT syndrome [RCV001854210]|Short QT syndrome type 1 [RCV002477191] Chr7:150958251 [GRCh38]
Chr7:150655339 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.751C>G (p.Pro251Ala) single nucleotide variant not provided [RCV000058251] Chr7:150958224 [GRCh38]
Chr7:150655312 [GRCh37]
Chr7:7q36.1		 benign|not provided
NM_000238.4(KCNH2):c.751C>T (p.Pro251Ser) single nucleotide variant Congenital long QT syndrome [RCV000058252]|Long QT syndrome [RCV000684941] Chr7:150958224 [GRCh38]
Chr7:150655312 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.754C>G (p.Arg252Gly) single nucleotide variant Congenital long QT syndrome [RCV000058253]|Long QT syndrome [RCV003764730] Chr7:150958221 [GRCh38]
Chr7:150655309 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.762C>G (p.His254Gln) single nucleotide variant not provided [RCV000058254] Chr7:150958213 [GRCh38]
Chr7:150655301 [GRCh37]
Chr7:7q36.1		 benign|not provided
NM_000238.4(KCNH2):c.769A>C (p.Asn257His) single nucleotide variant Long QT syndrome [RCV002513762]|not provided [RCV000058255] Chr7:150958206 [GRCh38]
Chr7:150655294 [GRCh37]
Chr7:7q36.1		 benign|uncertain significance|not provided
NM_000238.4(KCNH2):c.775G>A (p.Asp259Asn) single nucleotide variant Congenital long QT syndrome [RCV000058256]|Long QT syndrome [RCV000475069]|not provided [RCV000181767] Chr7:150958200 [GRCh38]
Chr7:150655288 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.77G>T (p.Ser26Ile) single nucleotide variant Congenital long QT syndrome [RCV000058257] Chr7:150974941 [GRCh38]
Chr7:150672029 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.805C>T (p.Arg269Trp) single nucleotide variant Congenital long QT syndrome [RCV000058258] Chr7:150958170 [GRCh38]
Chr7:150655258 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.80G>C (p.Arg27Pro) single nucleotide variant Congenital long QT syndrome [RCV000058259] Chr7:150974938 [GRCh38]
Chr7:150672026 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.818G>A (p.Arg273Gln) single nucleotide variant SUDDEN INFANT DEATH SYNDROME [RCV000058260] Chr7:150958157 [GRCh38]
Chr7:150655245 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.82A>G (p.Lys28Glu) single nucleotide variant Congenital long QT syndrome [RCV000058261] Chr7:150974936 [GRCh38]
Chr7:150672024 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.830C>A (p.Ala277Asp) single nucleotide variant Congenital long QT syndrome [RCV000058262]|Long QT syndrome [RCV001316856] Chr7:150958145 [GRCh38]
Chr7:150655233 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.835G>A (p.Val279Met) single nucleotide variant Long QT syndrome [RCV003531963]|SUDDEN INFANT DEATH SYNDROME [RCV000058263] Chr7:150958140 [GRCh38]
Chr7:150655228 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) single nucleotide variant Cardiovascular phenotype [RCV000619478]|Congenital long QT syndrome [RCV000058264]|Long QT syndrome 2 [RCV000202899]|Long QT syndrome [RCV000460639]|Short QT syndrome type 1 [RCV000765945]|not provided [RCV001568692]|not specified [RCV001731353] Chr7:150958110 [GRCh38]
Chr7:150655198 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.86T>C (p.Phe29Ser) single nucleotide variant Congenital long QT syndrome [RCV000058265] Chr7:150974932 [GRCh38]
Chr7:150672020 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.872T>C (p.Met291Thr) single nucleotide variant Cardiovascular phenotype [RCV003162450]|Congenital long QT syndrome [RCV000058266]|Long QT syndrome [RCV000820872]|Short QT syndrome type 1 [RCV002483102] Chr7:150958103 [GRCh38]
Chr7:150655191 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.87C>A (p.Phe29Leu) single nucleotide variant Congenital long QT syndrome [RCV000058267]|Long QT syndrome [RCV001068013] Chr7:150974931 [GRCh38]
Chr7:150672019 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.881G>T (p.Gly294Val) single nucleotide variant Long QT syndrome [RCV000527846]|SUDDEN INFANT DEATH SYNDROME [RCV000058268]|Short QT syndrome type 1 [RCV002490649] Chr7:150958094 [GRCh38]
Chr7:150655182 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.889C>T (p.Pro297Ser) single nucleotide variant Cardiovascular phenotype [RCV003298117]|Congenital long QT syndrome [RCV000058269]|Long QT syndrome [RCV000691618]|Short QT syndrome type 1 [RCV002483103] Chr7:150958086 [GRCh38]
Chr7:150655174 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.89T>C (p.Ile30Thr) single nucleotide variant Congenital long QT syndrome [RCV000058270]|Long QT syndrome [RCV000690304] Chr7:150974929 [GRCh38]
Chr7:150672017 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.902G>T (p.Arg301Leu) single nucleotide variant Congenital long QT syndrome [RCV000058271]|Long QT syndrome [RCV001854211] Chr7:150958073 [GRCh38]
Chr7:150655161 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg) single nucleotide variant Congenital long QT syndrome [RCV000058272]|Long QT syndrome 2 [RCV000157261]|Long QT syndrome [RCV000198797] Chr7:150958059 [GRCh38]
Chr7:150655147 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp) single nucleotide variant Congenital long QT syndrome [RCV000058273]|Long QT syndrome [RCV000229643]|not provided [RCV000182020] Chr7:150958059 [GRCh38]
Chr7:150655147 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.92T>C (p.Ile31Thr) single nucleotide variant Congenital long QT syndrome [RCV000058274]|not provided [RCV000181922] Chr7:150974926 [GRCh38]
Chr7:150672014 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|not provided
NM_000238.4(KCNH2):c.92T>G (p.Ile31Ser) single nucleotide variant Congenital long QT syndrome [RCV000058275] Chr7:150974926 [GRCh38]
Chr7:150672014 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) single nucleotide variant Cardiac arrhythmia [RCV001841761]|Cardiovascular phenotype [RCV003162451]|Congenital long QT syndrome [RCV000058276]|Long QT syndrome [RCV000171561]|Short QT syndrome type 1 [RCV000515393]|not provided [RCV002260974]|not specified [RCV001255552] Chr7:150957485 [GRCh38]
Chr7:150654573 [GRCh37]
Chr7:150285506 [NCBI36]
Chr7:7q36.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided
NM_000238.4(KCNH2):c.940G>A (p.Gly314Ser) single nucleotide variant Congenital long QT syndrome [RCV000058277] Chr7:150957479 [GRCh38]
Chr7:150654567 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.94G>A (p.Ala32Thr) single nucleotide variant Cardiac arrhythmia [RCV001841762]|Congenital long QT syndrome [RCV000058278]|Long QT syndrome [RCV002514291] Chr7:150974924 [GRCh38]
Chr7:150672012 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.959C>T (p.Ser320Leu) single nucleotide variant Congenital long QT syndrome [RCV000058279]|Long QT syndrome [RCV001854212]|Short QT syndrome type 1 [RCV002477192] Chr7:150957460 [GRCh38]
Chr7:150654548 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.967G>A (p.Asp323Asn) single nucleotide variant Congenital long QT syndrome [RCV000058280]|Long QT syndrome [RCV000691482]|Short QT syndrome type 1 [RCV002483104] Chr7:150957452 [GRCh38]
Chr7:150654540 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|not provided
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys) single nucleotide variant Cardiac arrhythmia [RCV001841763]|Cardiovascular phenotype [RCV000620416]|KCNH2-related condition [RCV003905025]|Long QT syndrome 2 [RCV001162645]|Long QT syndrome [RCV000210884]|not provided [RCV000058281]|not specified [RCV000157262] Chr7:150957437 [GRCh38]
Chr7:150654525 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr) single nucleotide variant Cardiovascular phenotype [RCV003343627]|Long QT syndrome [RCV000780363]|not provided [RCV000058282] Chr7:150974920 [GRCh38]
Chr7:150672008 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.3088_3089delinsGGGTCTCCCG (p.Pro1030fs) indel not provided [RCV000657561] Chr7:150947391..150947392 [GRCh38]
Chr7:150644479..150644480 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.904del (p.His302fs) deletion Long QT syndrome [RCV001202715] Chr7:150958071 [GRCh38]
Chr7:150655159 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.863T>C (p.Ile288Thr) single nucleotide variant Long QT syndrome 2 [RCV000735248] Chr7:150958112 [GRCh38]
Chr7:150655200 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1738G>C (p.Asp580His) single nucleotide variant Long QT syndrome [RCV001852069]|not provided [RCV000171410] Chr7:150951655 [GRCh38]
Chr7:150648743 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2536C>G (p.Pro846Ala) single nucleotide variant Long QT syndrome 2 [RCV000148525] Chr7:150948912 [GRCh38]
Chr7:150646000 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3139C>T (p.Arg1047Cys) single nucleotide variant Cardiac arrhythmia [RCV003591689]|Long QT syndrome [RCV000148531]|Short QT syndrome type 1 [RCV003224169]|not provided [RCV000181913] Chr7:150947341 [GRCh38]
Chr7:150644429 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1603G>A (p.Val535Met) single nucleotide variant Cardiovascular phenotype [RCV000622193]|Long QT syndrome 2 [RCV000148538]|Long QT syndrome [RCV000459974]|Short QT syndrome type 1 [RCV002492542]|not provided [RCV001753527] Chr7:150951790 [GRCh38]
Chr7:150648878 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1968C>T (p.Phe656=) single nucleotide variant Cardiac arrhythmia [RCV003591875]|Cardiovascular phenotype [RCV002421132]|Long QT syndrome [RCV001494412] Chr7:150951098 [GRCh38]
Chr7:150648186 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.817C>G (p.Arg273Gly) single nucleotide variant Long QT syndrome [RCV001348390] Chr7:150958158 [GRCh38]
Chr7:150655246 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.3(KCNH2):c.843dupC (p.Ala282Argfs) duplication Long QT syndrome 2 [RCV000143905] Chr7:150958132 [GRCh38]
Chr7:150655220 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2744_2773del (p.Ala915_Gly924del) deletion Long QT syndrome [RCV001313032] Chr7:150947798..150947827 [GRCh38]
Chr7:150644886..150644915 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2696C>A (p.Thr899Lys) single nucleotide variant Long QT syndrome [RCV001303995]|Short QT syndrome type 1 [RCV002504458] Chr7:150947875 [GRCh38]
Chr7:150644963 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2659C>T (p.Arg887Cys) single nucleotide variant Cardiac arrhythmia [RCV001842787]|Cardiovascular phenotype [RCV002426829]|Long QT syndrome [RCV000230318]|Short QT syndrome type 1 [RCV002500466]|not provided [RCV000173989] Chr7:150948477 [GRCh38]
Chr7:150645565 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2711A>T (p.Glu904Val) single nucleotide variant not provided [RCV000174224] Chr7:150947860 [GRCh38]
Chr7:150644948 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys) single nucleotide variant Cardiac arrhythmia [RCV001842517]|Cardiovascular phenotype [RCV000618660]|Long QT syndrome 2 [RCV000988001]|Long QT syndrome [RCV001085306]|not provided [RCV000171663]|not specified [RCV000412673] Chr7:150948462 [GRCh38]
Chr7:150645550 [GRCh37]
Chr7:7q36.1		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.2398+156G>A single nucleotide variant Cardiac arrhythmia [RCV001842518]|not provided [RCV000171664] Chr7:150950012 [GRCh38]
Chr7:150647100 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1330G>A (p.Glu444Lys) single nucleotide variant Cardiac arrhythmia [RCV001842519]|Long QT syndrome 2 [RCV001161091]|Long QT syndrome [RCV001218829]|not provided [RCV000171665] Chr7:150952652 [GRCh38]
Chr7:150649740 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.383A>G (p.Asn128Ser) single nucleotide variant Cardiac arrhythmia [RCV003591694]|Cardiovascular phenotype [RCV003352792]|Long QT syndrome [RCV000556017]|not provided [RCV000171666] Chr7:150959661 [GRCh38]
Chr7:150656749 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1598T>G (p.Val533Gly) single nucleotide variant not specified [RCV000171816] Chr7:150951795 [GRCh38]
Chr7:150648883 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala) single nucleotide variant Cardiac arrhythmia [RCV001842516]|Cardiovascular phenotype [RCV002453590]|Long QT syndrome [RCV000477460]|Short QT syndrome type 1 [RCV002485095]|not provided [RCV000171662]|not specified [RCV003230432] Chr7:150945451 [GRCh38]
Chr7:150642539 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) single nucleotide variant Cardiac arrhythmia [RCV001842788]|Cardiovascular phenotype [RCV000622008]|Long QT syndrome [RCV001084933]|not provided [RCV000712077]|not specified [RCV000225708] Chr7:150947369 [GRCh38]
Chr7:150644457 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.2398+178C>T single nucleotide variant Cardiac arrhythmia [RCV001842527]|KCNH2-related condition [RCV003954997]|not provided [RCV000171756] Chr7:150949990 [GRCh38]
Chr7:150647078 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2398+16C>T single nucleotide variant Cardiac arrhythmia [RCV001842528]|Long QT syndrome [RCV002054029]|Short QT syndrome type 1 [RCV002500445]|not provided [RCV000171757]|not specified [RCV000181728] Chr7:150950152 [GRCh38]
Chr7:150647240 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.656A>T (p.Asp219Val) single nucleotide variant Long QT syndrome 2 [RCV000144957]|Long QT syndrome [RCV001234187] Chr7:150958319 [GRCh38]
Chr7:150655407 [GRCh37]
Chr7:7q36.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter) single nucleotide variant Long QT syndrome 2 [RCV000515684] Chr7:150947005 [GRCh38]
Chr7:150644093 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3 copy number gain See cases [RCV000135825] Chr7:147345844..153833351 [GRCh38]
Chr7:147042936..153530436 [GRCh37]
Chr7:146673869..153161369 [NCBI36]
Chr7:7q35-36.2		 pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1 copy number loss See cases [RCV000136089] Chr7:150486071..159335865 [GRCh38]
Chr7:150183159..159128555 [GRCh37]
Chr7:149814092..158821316 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1 copy number loss See cases [RCV000137465] Chr7:150802801..159335866 [GRCh38]
Chr7:150499889..159128556 [GRCh37]
Chr7:150130822..158821317 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1 copy number loss See cases [RCV000137338] Chr7:145436544..159331441 [GRCh38]
Chr7:145133637..159124131 [GRCh37]
Chr7:144764570..158816892 [NCBI36]
Chr7:7q35-36.3		 pathogenic|likely pathogenic
GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1 copy number loss See cases [RCV000138005] Chr7:145250254..159335866 [GRCh38]
Chr7:144947347..159128556 [GRCh37]
Chr7:144578280..158821317 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1 copy number loss See cases [RCV000137781] Chr7:146047157..157522158 [GRCh38]
Chr7:145744250..157314852 [GRCh37]
Chr7:145375183..157007613 [NCBI36]
Chr7:7q35-36.3		 pathogenic
NM_000238.4(KCNH2):c.1558-5C>T single nucleotide variant Cardiac arrhythmia [RCV001842953]|Cardiovascular phenotype [RCV000243638]|Long QT syndrome 2 [RCV000202805]|Long QT syndrome [RCV000225842]|not provided [RCV000588127] Chr7:150951840 [GRCh38]
Chr7:150648928 [GRCh37]
Chr7:7q36.1		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3 copy number gain See cases [RCV000138566] Chr7:150113232..154162779 [GRCh38]
Chr7:149810321..153859864 [GRCh37]
Chr7:149441254..153490797 [NCBI36]
Chr7:7q36.1-36.2		 likely pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3 copy number gain See cases [RCV000139660] Chr7:150275734..153342804 [GRCh38]
Chr7:149972823..153039889 [GRCh37]
Chr7:149603756..152670822 [NCBI36]
Chr7:7q36.1-36.2		 uncertain significance
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1 copy number loss See cases [RCV000142592] Chr7:150260297..159325876 [GRCh38]
Chr7:149957386..159118566 [GRCh37]
Chr7:149588319..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1 copy number loss See cases [RCV000143503] Chr7:147144002..159327017 [GRCh38]
Chr7:146841094..159119707 [GRCh37]
Chr7:146472027..158812468 [NCBI36]
Chr7:7q35-36.3		 pathogenic
NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter) single nucleotide variant Cardiovascular phenotype [RCV002362837]|Long QT syndrome 2 [RCV000157258]|Long QT syndrome [RCV000545572]|not provided [RCV000412861] Chr7:150958290 [GRCh38]
Chr7:150655378 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.755G>A (p.Arg252Gln) single nucleotide variant Long QT syndrome [RCV000157259] Chr7:150958220 [GRCh38]
Chr7:150655308 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.842dup (p.Ala282fs) duplication Long QT syndrome 2 [RCV000157260] Chr7:150958132..150958133 [GRCh38]
Chr7:150655220..150655221 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.1067G>A (p.Arg356His) single nucleotide variant Cardiac arrhythmia [RCV001842496]|Cardiovascular phenotype [RCV000249792]|Long QT syndrome [RCV000157263]|not provided [RCV000729426] Chr7:150957352 [GRCh38]
Chr7:150654440 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) single nucleotide variant Cardiovascular phenotype [RCV000617781]|Long QT syndrome 2 [RCV000157266]|Long QT syndrome [RCV000473013]|not provided [RCV000181843] Chr7:150950336 [GRCh38]
Chr7:150647424 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2734C>T (p.Arg912Trp) single nucleotide variant Cardiac arrhythmia [RCV001842497]|Cardiovascular phenotype [RCV002433689]|Long QT syndrome [RCV000157267]|not provided [RCV001582634] Chr7:150947837 [GRCh38]
Chr7:150644925 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3350G>A (p.Cys1117Tyr) single nucleotide variant Ventricular tachycardia [RCV000157269] Chr7:150945495 [GRCh38]
Chr7:150642583 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.473-7C>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV000157270] Chr7:150958509 [GRCh38]
Chr7:150655597 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.473-7C>T single nucleotide variant Long QT syndrome [RCV000230168]|Short QT syndrome type 1 [RCV002505184]|Ventricular fibrillation, paroxysmal familial, type 1 [RCV000157271]|not provided [RCV001719987] Chr7:150958509 [GRCh38]
Chr7:150655597 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2900dup (p.Pro968fs) duplication Long QT syndrome 2 [RCV003485546]|Long QT syndrome [RCV000168023]|not provided [RCV000182001] Chr7:150947670..150947671 [GRCh38]
Chr7:150644758..150644759 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.342C>T (p.Pro114=) single nucleotide variant Cardiac arrhythmia [RCV001842798]|Cardiovascular phenotype [RCV002453648]|Long QT syndrome 2 [RCV001159790]|Long QT syndrome [RCV000868019]|not provided [RCV001531069]|not specified [RCV000181715] Chr7:150959702 [GRCh38]
Chr7:150656790 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance
NM_000238.4(KCNH2):c.524C>A (p.Ala175Asp) single nucleotide variant Cardiovascular phenotype [RCV003352797]|Long QT syndrome 2 [RCV001095282]|Long QT syndrome [RCV000303831]|not specified [RCV000181716] Chr7:150958451 [GRCh38]
Chr7:150655539 [GRCh37]
Chr7:7q36.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.558C>T (p.Gly186=) single nucleotide variant Cardiovascular phenotype [RCV000620996]|Long QT syndrome [RCV001086460]|not provided [RCV000589337]|not specified [RCV000181718] Chr7:150958417 [GRCh38]
Chr7:150655505 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1128+1784C>T single nucleotide variant Cardiac arrhythmia [RCV001842799]|not provided [RCV000712081]|not specified [RCV000181721] Chr7:150955507 [GRCh38]
Chr7:150652595 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.1149C>T (p.Asp383=) single nucleotide variant Cardiac arrhythmia [RCV001842800]|Cardiovascular phenotype [RCV002453649]|Long QT syndrome [RCV000863848]|not specified [RCV000181722] Chr7:150952833 [GRCh38]
Chr7:150649921 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1353G>A (p.Pro451=) single nucleotide variant Cardiac arrhythmia [RCV001842801]|Cardiovascular phenotype [RCV000619677]|Long QT syndrome [RCV001516764]|not specified [RCV000181723] Chr7:150952629 [GRCh38]
Chr7:150649717 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1581G>A (p.Ala527=) single nucleotide variant Cardiac arrhythmia [RCV001842802]|Cardiovascular phenotype [RCV000245525]|Long QT syndrome 2 [RCV001159682]|Long QT syndrome [RCV000471665]|not provided [RCV001812168]|not specified [RCV000181724] Chr7:150951812 [GRCh38]
Chr7:150648900 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1683G>A (p.Ala561=) single nucleotide variant Cardiac arrhythmia [RCV001842803]|Cardiovascular phenotype [RCV002399644]|Long QT syndrome [RCV000631806]|not specified [RCV000181725] Chr7:150951710 [GRCh38]
Chr7:150648798 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1692A>G (p.Leu564=) single nucleotide variant Cardiac arrhythmia [RCV001842804]|Cardiovascular phenotype [RCV000245504]|Long QT syndrome 2 [RCV001095280]|Long QT syndrome [RCV000378634]|not provided [RCV000712073]|not specified [RCV000181726] Chr7:150951701 [GRCh38]
Chr7:150648789 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=) single nucleotide variant Cardiac arrhythmia [RCV001842805]|Cardiovascular phenotype [RCV000253499]|Long QT syndrome 2 [RCV001095278]|Long QT syndrome [RCV000283094]|not provided [RCV000710149]|not specified [RCV000181727] Chr7:150951110 [GRCh38]
Chr7:150648198 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2398+58C>A single nucleotide variant not specified [RCV000181729] Chr7:150950110 [GRCh38]
Chr7:150647198 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2398+58C>T single nucleotide variant not specified [RCV000181730] Chr7:150950110 [GRCh38]
Chr7:150647198 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2398+105del deletion Cardiac arrhythmia [RCV001842806]|not provided [RCV001582675]|not specified [RCV000181731] Chr7:150950063 [GRCh38]
Chr7:150647151 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.2398+153A>G single nucleotide variant not provided [RCV000181732] Chr7:150950015 [GRCh38]
Chr7:150647103 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2398+179G>A single nucleotide variant Cardiac arrhythmia [RCV001842807]|not specified [RCV000181733] Chr7:150949989 [GRCh38]
Chr7:150647077 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2398+234C>T single nucleotide variant Cardiac arrhythmia [RCV001842808]|not specified [RCV000181734] Chr7:150949934 [GRCh38]
Chr7:150647022 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2454G>A (p.Ser818=) single nucleotide variant Cardiac arrhythmia [RCV001842809]|Cardiovascular phenotype [RCV000243287]|Long QT syndrome 2 [RCV001095233]|Long QT syndrome [RCV000316839]|not provided [RCV001531066]|not specified [RCV000181735] Chr7:150948994 [GRCh38]
Chr7:150646082 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.2607G>A (p.Pro869=) single nucleotide variant Cardiac arrhythmia [RCV001842810]|Cardiovascular phenotype [RCV002433790]|Long QT syndrome [RCV000631791]|not specified [RCV000181736] Chr7:150948529 [GRCh38]
Chr7:150645617 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2904G>A (p.Pro968=) single nucleotide variant Cardiac arrhythmia [RCV001842811]|Cardiovascular phenotype [RCV000622101]|KCNH2-related condition [RCV003937649]|Long QT syndrome [RCV000473297]|not specified [RCV000181738] Chr7:150947667 [GRCh38]
Chr7:150644755 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2994C>T (p.Phe998=) single nucleotide variant Cardiac arrhythmia [RCV001842812]|Cardiovascular phenotype [RCV002433791]|Long QT syndrome [RCV000545645]|not specified [RCV000181739] Chr7:150947486 [GRCh38]
Chr7:150644574 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.3079C>A (p.Leu1027Ile) single nucleotide variant Cardiac arrhythmia [RCV001842813]|Cardiovascular phenotype [RCV002319451]|Long QT syndrome [RCV001852289] Chr7:150947401 [GRCh38]
Chr7:150644489 [GRCh37]
Chr7:7q36.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.3153-15C>T single nucleotide variant Cardiac arrhythmia [RCV001842814]|Long QT syndrome [RCV002054164]|not provided [RCV003736624]|not specified [RCV000181742] Chr7:150947069 [GRCh38]
Chr7:150644157 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.3331-14del deletion Cardiac arrhythmia [RCV001842815] Chr7:150945528 [GRCh38]
Chr7:150642616 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.3(KCNH2):c.3331-14_3331-13delTG deletion Cardiac arrhythmia [RCV000181745] Chr7:150945527..150945528 [GRCh38]
Chr7:150642615..150642616 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.3331-13del deletion Cardiac arrhythmia [RCV001842816] Chr7:150945527 [GRCh38]
Chr7:150642615 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.3331-13GT[2] microsatellite Cardiac arrhythmia [RCV001842817]|Long QT syndrome [RCV000232365]|Short QT syndrome type 1 [RCV002500532]|not provided [RCV001812169]|not specified [RCV000181747] Chr7:150945522..150945523 [GRCh38]
Chr7:150642610..150642611 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000238.4(KCNH2):c.3348G>A (p.Ala1116=) single nucleotide variant Cardiac arrhythmia [RCV001842818]|Cardiovascular phenotype [RCV002321713]|Long QT syndrome [RCV000631730]|not provided [RCV001200300]|not specified [RCV000181748] Chr7:150945497 [GRCh38]
Chr7:150642585 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.-29GGCCCGCCC[1] microsatellite Cardiac arrhythmia [RCV001842819] Chr7:150977925..150977933 [GRCh38]
Chr7:150675013..150675021 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) single nucleotide variant Cardiac arrhythmia [RCV001842820]|Cardiovascular phenotype [RCV000622136]|Long QT syndrome 2 [RCV001095173]|Long QT syndrome [RCV000268629]|not provided [RCV000725132]|not specified [RCV000181750] Chr7:150977863 [GRCh38]
Chr7:150674951 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.3(KCNH2):c.341C>G (p.Pro114Arg) single nucleotide variant Cardiac arrhythmia [RCV000181751] Chr7:150959703 [GRCh38]
Chr7:150656791 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.344T>G (p.Val115Gly) single nucleotide variant not provided [RCV000181752] Chr7:150959700 [GRCh38]
Chr7:150656788 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.379C>T (p.Leu127Phe) single nucleotide variant not provided [RCV000181753] Chr7:150959665 [GRCh38]
Chr7:150656753 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.387C>G (p.Phe129Leu) single nucleotide variant Cardiovascular phenotype [RCV002362931]|Long QT syndrome [RCV002516842]|not provided [RCV000181754] Chr7:150959657 [GRCh38]
Chr7:150656745 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.398T>C (p.Met133Thr) single nucleotide variant Cardiac arrhythmia [RCV003591697]|Cardiovascular phenotype [RCV002354477]|Long QT syndrome 2 [RCV000238963]|Long QT syndrome [RCV001221938]|not provided [RCV000181755] Chr7:150959646 [GRCh38]
Chr7:150656734 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.440A>G (p.His147Arg) single nucleotide variant Long QT syndrome [RCV000811589]|Short QT syndrome type 1 [RCV000765949]|not provided [RCV000181757] Chr7:150959604 [GRCh38]
Chr7:150656692 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.455C>G (p.Thr152Ser) single nucleotide variant Cardiac arrhythmia [RCV001842821]|Long QT syndrome [RCV002516843]|not provided [RCV000181759] Chr7:150959589 [GRCh38]
Chr7:150656677 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.515C>T (p.Ala172Val) single nucleotide variant not provided [RCV000181760] Chr7:150958460 [GRCh38]
Chr7:150655548 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.563C>T (p.Ala188Val) single nucleotide variant Cardiovascular phenotype [RCV003298231]|Long QT syndrome [RCV000475233]|not provided [RCV000181762] Chr7:150958412 [GRCh38]
Chr7:150655500 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.602C>T (p.Thr201Met) single nucleotide variant Long QT syndrome [RCV002516844]|not provided [RCV000181763] Chr7:150958373 [GRCh38]
Chr7:150655461 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.670G>A (p.Gly224Arg) single nucleotide variant Short QT syndrome type 1 [RCV002503707]|not provided [RCV000181764] Chr7:150958305 [GRCh38]
Chr7:150655393 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.719C>T (p.Pro240Leu) single nucleotide variant Long QT syndrome [RCV001324573]|not provided [RCV000181765] Chr7:150958256 [GRCh38]
Chr7:150655344 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.749C>A (p.Ser250Ter) single nucleotide variant Cardiovascular phenotype [RCV002390453]|not provided [RCV000181766] Chr7:150958226 [GRCh38]
Chr7:150655314 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.812G>A (p.Arg271His) single nucleotide variant Long QT syndrome [RCV001852290]|not provided [RCV000181768] Chr7:150958163 [GRCh38]
Chr7:150655251 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.868G>C (p.Ala290Pro) single nucleotide variant Cardiovascular phenotype [RCV003165385]|Long QT syndrome [RCV003765122]|not provided [RCV000181769] Chr7:150958107 [GRCh38]
Chr7:150655195 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.877G>T (p.Ala293Ser) single nucleotide variant not provided [RCV000181770] Chr7:150958098 [GRCh38]
Chr7:150655186 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.959C>G (p.Ser320Trp) single nucleotide variant Cardiac arrhythmia [RCV001842822]|Long QT syndrome [RCV002516845]|not provided [RCV000181773] Chr7:150957460 [GRCh38]
Chr7:150654548 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.983G>A (p.Arg328His) single nucleotide variant Cardiac arrhythmia [RCV001842823]|Cardiovascular phenotype [RCV002381587]|Long QT syndrome [RCV000470774]|not provided [RCV000181775] Chr7:150957436 [GRCh38]
Chr7:150654524 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1043T>A (p.Phe348Tyr) single nucleotide variant Cardiovascular phenotype [RCV002399645]|Long QT syndrome [RCV001342668]|not provided [RCV000181778] Chr7:150957376 [GRCh38]
Chr7:150654464 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1096C>T (p.Arg366Ter) single nucleotide variant Cardiovascular phenotype [RCV002453650]|Long QT syndrome 2 [RCV003327377]|Long QT syndrome [RCV001039878]|not provided [RCV000181779] Chr7:150957323 [GRCh38]
Chr7:150654411 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) single nucleotide variant Cardiac arrhythmia [RCV001842824]|Cardiovascular phenotype [RCV000618780]|Long QT syndrome 2 [RCV002298508]|Long QT syndrome [RCV000200566]|not provided [RCV000223833] Chr7:150957291 [GRCh38]
Chr7:150654379 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1129-2A>G single nucleotide variant Long QT syndrome [RCV001852291]|not provided [RCV000181781] Chr7:150952855 [GRCh38]
Chr7:150649943 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1193G>A (p.Trp398Ter) single nucleotide variant Long QT syndrome [RCV001233303]|not provided [RCV000181782] Chr7:150952789 [GRCh38]
Chr7:150649877 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1226T>A (p.Val409Glu) single nucleotide variant Cardiovascular phenotype [RCV000618504]|not provided [RCV000181783] Chr7:150952756 [GRCh38]
Chr7:150649844 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1262C>A (p.Thr421Lys) single nucleotide variant not provided [RCV000181784] Chr7:150952720 [GRCh38]
Chr7:150649808 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1282T>C (p.Ser428Pro) single nucleotide variant not provided [RCV000181787] Chr7:150952700 [GRCh38]
Chr7:150649788 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.1330G>T (p.Glu444Ter) single nucleotide variant Long QT syndrome [RCV002516846]|not provided [RCV000181788] Chr7:150952652 [GRCh38]
Chr7:150649740 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1415G>C (p.Arg472Pro) single nucleotide variant KCNH2-related disorders [RCV003335180]|Long QT syndrome [RCV003532021]|not provided [RCV000181790] Chr7:150952567 [GRCh38]
Chr7:150649655 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) single nucleotide variant Cardiac arrhythmia [RCV001842825]|Cardiovascular phenotype [RCV002390454]|Long QT syndrome 2 [RCV002470797]|Long QT syndrome [RCV000462536]|Short QT syndrome type 1 [RCV002492805]|not provided [RCV000181791]|not specified [RCV001192537] Chr7:150952523 [GRCh38]
Chr7:150649611 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile) single nucleotide variant Cardiac arrhythmia [RCV001842826]|Cardiovascular phenotype [RCV000617570]|Long QT syndrome [RCV000863337]|Short QT syndrome type 1 [RCV002478611]|not provided [RCV001704868]|not specified [RCV000181792] Chr7:150952511 [GRCh38]
Chr7:150649599 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg) single nucleotide variant Cardiovascular phenotype [RCV002390455]|Long QT syndrome [RCV003532022]|not provided [RCV000181793]|not specified [RCV000223922] Chr7:150952486 [GRCh38]
Chr7:150649574 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1519C>T (p.Pro507Ser) single nucleotide variant not provided [RCV000586117] Chr7:150952463 [GRCh38]
Chr7:150649551 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1520C>T (p.Pro507Leu) single nucleotide variant Cardiovascular phenotype [RCV002390456]|not provided [RCV000181797] Chr7:150952462 [GRCh38]
Chr7:150649550 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn) single nucleotide variant Cardiac arrhythmia [RCV003591698]|Cardiovascular phenotype [RCV000618149]|Long QT syndrome 2 [RCV000678934]|Long QT syndrome [RCV000699875]|not provided [RCV002223807] Chr7:150952457 [GRCh38]
Chr7:150649545 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1583G>A (p.Arg528Gln) single nucleotide variant Cardiovascular phenotype [RCV003308427]|Long QT syndrome [RCV003028271] Chr7:150951810 [GRCh38]
Chr7:150648898 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1610G>A (p.Arg537Gln) single nucleotide variant not provided [RCV000181802] Chr7:150951783 [GRCh38]
Chr7:150648871 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.1675C>T (p.Leu559Phe) single nucleotide variant Cardiovascular phenotype [RCV002399646]|not provided [RCV000181804] Chr7:150951718 [GRCh38]
Chr7:150648806 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1689G>C (p.Trp563Cys) single nucleotide variant not provided [RCV000181808] Chr7:150951704 [GRCh38]
Chr7:150648792 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1704G>A (p.Trp568Ter) single nucleotide variant Cardiovascular phenotype [RCV000620895]|not provided [RCV000181809] Chr7:150951689 [GRCh38]
Chr7:150648777 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1693G>C (p.Ala565Pro) single nucleotide variant Cardiovascular phenotype [RCV002399647]|not provided [RCV000181810] Chr7:150951700 [GRCh38]
Chr7:150648788 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.1946-1G>A single nucleotide variant not provided [RCV000181813] Chr7:150951121 [GRCh38]
Chr7:150648209 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.1733A>C (p.His578Pro) single nucleotide variant Short QT syndrome type 1 [RCV002500533]|not provided [RCV000181814] Chr7:150951660 [GRCh38]
Chr7:150648748 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1900A>G (p.Thr634Ala) single nucleotide variant Long QT syndrome 2 [RCV003314572]|not provided [RCV000181826] Chr7:150951493 [GRCh38]
Chr7:150648581 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.1904A>G (p.Asn635Ser) single nucleotide variant Long QT syndrome [RCV000706059] Chr7:150951489 [GRCh38]
Chr7:150648577 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1913A>G (p.Lys638Arg) single nucleotide variant not provided [RCV000181828] Chr7:150951480 [GRCh38]
Chr7:150648568 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1916T>A (p.Ile639Asn) single nucleotide variant Long QT syndrome [RCV003532485] Chr7:150951477 [GRCh38]
Chr7:150648565 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1945+6T>C single nucleotide variant Long QT syndrome [RCV000227185]|not provided [RCV000181831] Chr7:150951442 [GRCh38]
Chr7:150648530 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1956T>A (p.Tyr652Ter) single nucleotide variant Long QT syndrome [RCV003647755]|not provided [RCV000181832] Chr7:150951110 [GRCh38]
Chr7:150648198 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2026C>T (p.Gln676Ter) single nucleotide variant Long QT syndrome [RCV001852292]|not provided [RCV000181834] Chr7:150951040 [GRCh38]
Chr7:150648128 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2104C>T (p.Gln702Ter) single nucleotide variant Short QT syndrome type 1 [RCV000763170]|not provided [RCV000181835] Chr7:150950962 [GRCh38]
Chr7:150648050 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2081G>A (p.Arg694His) single nucleotide variant Long QT syndrome [RCV001235617]|not provided [RCV000181837] Chr7:150950985 [GRCh38]
Chr7:150648073 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2144C>T (p.Ala715Val) single nucleotide variant Cardiac arrhythmia [RCV001842827]|Cardiovascular phenotype [RCV000621645]|Long QT syndrome [RCV001042787]|not specified [RCV000454933] Chr7:150950922 [GRCh38]
Chr7:150648010 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) single nucleotide variant Cardiac arrhythmia [RCV003591699]|Cardiovascular phenotype [RCV002426873]|Long QT syndrome 2 [RCV002298509]|Long QT syndrome [RCV000466148]|not provided [RCV000181840] Chr7:150950921 [GRCh38]
Chr7:150648009 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2192A>C (p.His731Pro) single nucleotide variant Long QT syndrome [RCV002516847]|not provided [RCV000181841] Chr7:150950374 [GRCh38]
Chr7:150647462 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2263G>A (p.Ala755Thr) single nucleotide variant not provided [RCV000181846] Chr7:150950303 [GRCh38]
Chr7:150647391 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2326C>T (p.Leu776Phe) single nucleotide variant not provided [RCV000181847] Chr7:150950240 [GRCh38]
Chr7:150647328 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2360T>A (p.Ile787Asn) single nucleotide variant Long QT syndrome [RCV000694640]|not provided [RCV000181849] Chr7:150950206 [GRCh38]
Chr7:150647294 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2366T>C (p.Ile789Thr) single nucleotide variant Cardiovascular phenotype [RCV000619839]|Long QT syndrome [RCV001042788] Chr7:150950200 [GRCh38]
Chr7:150647288 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2380G>A (p.Val794Ile) single nucleotide variant Cardiac arrhythmia [RCV001842828]|Cardiovascular phenotype [RCV002453651]|Long QT syndrome [RCV001309214]|not provided [RCV000181853] Chr7:150950186 [GRCh38]
Chr7:150647274 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2386G>A (p.Val796Met) single nucleotide variant Long QT syndrome [RCV002615378] Chr7:150950180 [GRCh38]
Chr7:150647268 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2386G>C (p.Val796Leu) single nucleotide variant Cardiovascular phenotype [RCV003165386]|Long QT syndrome [RCV001361466] Chr7:150950180 [GRCh38]
Chr7:150647268 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2390C>A (p.Ala797Asp) single nucleotide variant Cardiovascular phenotype [RCV002453652]|not provided [RCV000181856]|not specified [RCV000223774] Chr7:150950176 [GRCh38]
Chr7:150647264 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2396T>C (p.Leu799Pro) single nucleotide variant not provided [RCV000181857] Chr7:150950170 [GRCh38]
Chr7:150647258 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2398+1G>C single nucleotide variant Long QT syndrome 2 [RCV000015503]|not provided [RCV000181858] Chr7:150950167 [GRCh38]
Chr7:150647255 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2398+5G>T single nucleotide variant Cardiovascular phenotype [RCV003298232]|Long QT syndrome [RCV000703830] Chr7:150950163 [GRCh38]
Chr7:150647251 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2398+57G>T single nucleotide variant not provided [RCV000181860] Chr7:150950111 [GRCh38]
Chr7:150647199 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2417G>C (p.Gly806Ala) single nucleotide variant not provided [RCV000181864] Chr7:150949031 [GRCh38]
Chr7:150646119 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2464G>C (p.Val822Leu) single nucleotide variant not provided [RCV000181866] Chr7:150948984 [GRCh38]
Chr7:150646072 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2494A>T (p.Lys832Ter) single nucleotide variant Cardiovascular phenotype [RCV002426874]|not provided [RCV000181869] Chr7:150948954 [GRCh38]
Chr7:150646042 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2693-2A>T single nucleotide variant not provided [RCV000181870] Chr7:150947880 [GRCh38]
Chr7:150644968 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2504G>A (p.Arg835Gln) single nucleotide variant Long QT syndrome [RCV002516848]|Short QT syndrome type 1 [RCV002485198]|not provided [RCV000181871] Chr7:150948944 [GRCh38]
Chr7:150646032 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2576C>T (p.Thr859Ile) single nucleotide variant not provided [RCV000181875] Chr7:150948872 [GRCh38]
Chr7:150645960 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2582A>G (p.Asn861Ser) single nucleotide variant not provided [RCV000181876] Chr7:150948866 [GRCh38]
Chr7:150645954 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu) single nucleotide variant Brugada syndrome 1 [RCV000498950]|Cardiac arrhythmia [RCV001842829]|Cardiovascular phenotype [RCV003165387]|Long QT syndrome [RCV001852293]|Short QT syndrome type 1 [RCV002500534]|not provided [RCV000181877] Chr7:150948530 [GRCh38]
Chr7:150645618 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val) single nucleotide variant Cardiac arrhythmia [RCV001842830]|Cardiovascular phenotype [RCV002433792]|Long QT syndrome [RCV001088454]|not provided [RCV000181878] Chr7:150948471 [GRCh38]
Chr7:150645559 [GRCh37]
Chr7:7q36.1		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.2690A>T (p.Lys897Met) single nucleotide variant Cardiac arrhythmia [RCV001842831]|Long QT syndrome [RCV002516849]|not provided [RCV000181882] Chr7:150948446 [GRCh38]
Chr7:150645534 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2932G>T (p.Glu978Ter) single nucleotide variant not provided [RCV000181885] Chr7:150947639 [GRCh38]
Chr7:150644727 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2719G>A (p.Ala907Thr) single nucleotide variant Long QT syndrome [RCV001219788]|not provided [RCV000181886] Chr7:150947852 [GRCh38]
Chr7:150644940 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2758C>G (p.Arg920Gly) single nucleotide variant Cardiac arrhythmia [RCV001842832]|Long QT syndrome [RCV000631667]|Short QT syndrome type 1 [RCV002485199]|not provided [RCV000181889] Chr7:150947813 [GRCh38]
Chr7:150644901 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2770G>A (p.Gly924Arg) single nucleotide variant Cardiovascular phenotype [RCV002433793]|Long QT syndrome [RCV000701311]|Short QT syndrome type 1 [RCV002500535]|not provided [RCV000181890] Chr7:150947801 [GRCh38]
Chr7:150644889 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2774G>C (p.Gly925Ala) single nucleotide variant Cardiovascular phenotype [RCV003343675]|Long QT syndrome [RCV002515310]|Short QT syndrome type 1 [RCV002478612]|not provided [RCV000181892] Chr7:150947797 [GRCh38]
Chr7:150644885 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2774G>T (p.Gly925Val) single nucleotide variant Cardiac arrhythmia [RCV003591700]|Cardiovascular phenotype [RCV002433794]|Long QT syndrome [RCV000811115]|Sudden unexplained death [RCV000853468]|not provided [RCV000181893] Chr7:150947797 [GRCh38]
Chr7:150644885 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2780G>A (p.Trp927Ter) single nucleotide variant Long QT syndrome [RCV000631582]|not provided [RCV003311707] Chr7:150947791 [GRCh38]
Chr7:150644879 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu) single nucleotide variant Cardiac arrhythmia [RCV001842833]|Cardiovascular phenotype [RCV002433795]|Long QT syndrome 2 [RCV001160950]|Long QT syndrome [RCV000540197]|Short QT syndrome type 1 [RCV002492806]|not provided [RCV000181895] Chr7:150947791 [GRCh38]
Chr7:150644879 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2788A>C (p.Ser930Arg) single nucleotide variant Long QT syndrome [RCV002517774]|not provided [RCV000181896] Chr7:150947783 [GRCh38]
Chr7:150644871 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2952C>A (p.Cys984Ter) single nucleotide variant not provided [RCV000181902] Chr7:150947619 [GRCh38]
Chr7:150644707 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter) single nucleotide variant Cardiac arrhythmia [RCV001842834]|Cardiovascular phenotype [RCV002433796]|Long QT syndrome [RCV000228852]|not provided [RCV000181904] Chr7:150947478 [GRCh38]
Chr7:150644566 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3007G>T (p.Asp1003Tyr) single nucleotide variant Cardiac arrhythmia [RCV003591701]|not provided [RCV000181906] Chr7:150947473 [GRCh38]
Chr7:150644561 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter) single nucleotide variant Long QT syndrome 2 [RCV002272162]|Long QT syndrome [RCV000204945]|not provided [RCV000223784] Chr7:150947440 [GRCh38]
Chr7:150644528 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3052C>G (p.Pro1018Ala) single nucleotide variant Cardiac arrhythmia [RCV001842835]|Long QT syndrome [RCV001322922]|not provided [RCV000181908] Chr7:150947428 [GRCh38]
Chr7:150644516 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) single nucleotide variant Cardiac arrhythmia [RCV001842836]|Cardiovascular phenotype [RCV002321714]|Long QT syndrome 2 [RCV001159566]|Long QT syndrome [RCV000694140]|Short QT syndrome type 1 [RCV002500536]|not specified [RCV003155109] Chr7:150947386 [GRCh38]
Chr7:150644474 [GRCh37]
Chr7:7q36.1		 likely pathogenic|benign|uncertain significance
NM_000238.4(KCNH2):c.3119G>A (p.Ser1040Asn) single nucleotide variant Long QT syndrome [RCV002515311]|not provided [RCV000181912] Chr7:150947361 [GRCh38]
Chr7:150644449 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala) single nucleotide variant Cardiac arrhythmia [RCV001842837]|Cardiovascular phenotype [RCV002321715]|Long QT syndrome [RCV001045529]|Short QT syndrome type 1 [RCV002485200]|not provided [RCV000181914] Chr7:150946960 [GRCh38]
Chr7:150644048 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3305C>T (p.Thr1102Ile) single nucleotide variant Cardiac arrhythmia [RCV001842838]|Long QT syndrome [RCV001045673]|not provided [RCV000181915] Chr7:150946902 [GRCh38]
Chr7:150643990 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3365C>T (p.Pro1122Leu) single nucleotide variant Cardiac arrhythmia [RCV001842839]|Cardiovascular phenotype [RCV002453653]|Long QT syndrome [RCV000525474]|not provided [RCV001704869] Chr7:150945480 [GRCh38]
Chr7:150642568 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.77-1G>A single nucleotide variant Long QT syndrome [RCV001379136]|not provided [RCV000181919] Chr7:150974942 [GRCh38]
Chr7:150672030 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.80G>A (p.Arg27His) single nucleotide variant Long QT syndrome [RCV001213481]|not provided [RCV000181921] Chr7:150974938 [GRCh38]
Chr7:150672026 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.119C>T (p.Ala40Val) single nucleotide variant not provided [RCV000181924] Chr7:150974899 [GRCh38]
Chr7:150671987 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.125T>C (p.Ile42Thr) single nucleotide variant Long QT syndrome [RCV003647756]|not provided [RCV000181925] Chr7:150974893 [GRCh38]
Chr7:150671981 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.3(KCNH2):c.133A>G (p.Asn45Asp) single nucleotide variant Cardiac arrhythmia [RCV000181927] Chr7:150974885 [GRCh38]
Chr7:150671973 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.136G>A (p.Asp46Asn) single nucleotide variant Long QT syndrome [RCV003532023]|not provided [RCV000181928] Chr7:150974882 [GRCh38]
Chr7:150671970 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.139G>T (p.Gly47Cys) single nucleotide variant Long QT syndrome 2 [RCV001248792]|not provided [RCV000181929] Chr7:150974879 [GRCh38]
Chr7:150671967 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.147C>G (p.Cys49Trp) single nucleotide variant not provided [RCV000181930] Chr7:150974871 [GRCh38]
Chr7:150671959 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.167G>T (p.Arg56Leu) single nucleotide variant Long QT syndrome [RCV000461590]|not provided [RCV000181931] Chr7:150974851 [GRCh38]
Chr7:150671939 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.188C>A (p.Pro63His) single nucleotide variant Cardiovascular phenotype [RCV002408789]|Long QT syndrome [RCV000631676]|not provided [RCV000181932] Chr7:150974830 [GRCh38]
Chr7:150671918 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.214C>T (p.Pro72Ser) single nucleotide variant Long QT syndrome [RCV002516850]|not provided [RCV000181936] Chr7:150974804 [GRCh38]
Chr7:150671892 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.3(KCNH2):c.247G>C (p.Ala83Pro) single nucleotide variant Cardiac arrhythmia [RCV000181940] Chr7:150974771 [GRCh38]
Chr7:150671859 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.3(KCNH2):c.266C>T (p.Ala89Val) single nucleotide variant Cardiac arrhythmia [RCV000181941] Chr7:150974752 [GRCh38]
Chr7:150671840 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys) single nucleotide variant Cardiac arrhythmia [RCV001842840]|Long QT syndrome 2 [RCV000988007]|Long QT syndrome [RCV001219813]|not provided [RCV000181942] Chr7:150974744 [GRCh38]
Chr7:150671832 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.275G>T (p.Arg92Leu) single nucleotide variant not provided [RCV000181943] Chr7:150974743 [GRCh38]
Chr7:150671831 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.284A>C (p.Glu95Ala) single nucleotide variant Cardiovascular phenotype [RCV002433797]|Long QT syndrome [RCV001363747]|not provided [RCV000181945] Chr7:150974734 [GRCh38]
Chr7:150671822 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.290C>G (p.Ala97Gly) single nucleotide variant not provided [RCV000181946] Chr7:150974728 [GRCh38]
Chr7:150671816 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.296A>G (p.Tyr99Cys) single nucleotide variant Cardiovascular phenotype [RCV003165388]|not provided [RCV000181947] Chr7:150974722 [GRCh38]
Chr7:150671810 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.301A>T (p.Lys101Ter) single nucleotide variant not provided [RCV000181950] Chr7:150974717 [GRCh38]
Chr7:150671805 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.31C>T (p.Gln11Ter) single nucleotide variant Long QT syndrome [RCV002516851]|not provided [RCV000181951] Chr7:150977883 [GRCh38]
Chr7:150674971 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.303A>T (p.Lys101Asn) single nucleotide variant not provided [RCV000181952] Chr7:150974715 [GRCh38]
Chr7:150671803 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.26C>T (p.Ala9Val) single nucleotide variant Cardiac arrhythmia [RCV001842841]|Cardiovascular phenotype [RCV002433798]|Long QT syndrome [RCV000469823]|Short QT syndrome type 1 [RCV002500537]|not provided [RCV000181953] Chr7:150977888 [GRCh38]
Chr7:150674976 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.44T>A (p.Leu15Gln) single nucleotide variant not provided [RCV000181954] Chr7:150977870 [GRCh38]
Chr7:150674958 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.76+2T>G single nucleotide variant not provided [RCV000181955] Chr7:150977836 [GRCh38]
Chr7:150674924 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.453del (p.Thr152fs) deletion Cardiovascular phenotype [RCV000619865]|Long QT syndrome 2 [RCV000208221]|Long QT syndrome [RCV001388962]|not provided [RCV000181956] Chr7:150959591 [GRCh38]
Chr7:150656679 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) microsatellite Cardiovascular phenotype [RCV000247712]|Long QT syndrome 1 [RCV000584789]|Long QT syndrome 2 [RCV000239172]|Long QT syndrome [RCV001080836]|Short QT syndrome type 1 [RCV000768245]|not provided [RCV000590741]|not specified [RCV000181957] Chr7:150958407..150958415 [GRCh38]
Chr7:150655495..150655503 [GRCh37]
Chr7:7q36.1		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.565_568del (p.Gly189fs) deletion Cardiovascular phenotype [RCV002345630]|Long QT syndrome [RCV001223471]|not provided [RCV000181958] Chr7:150958407..150958410 [GRCh38]
Chr7:150655495..150655498 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.551GCGCGGGCG[3] (p.Gly189_Ala190insGlyAlaGly) microsatellite Cardiac arrhythmia [RCV001842842]|Cardiovascular phenotype [RCV002345631]|Long QT syndrome 2 [RCV003454480]|Long QT syndrome [RCV000691109]|Seizure [RCV001256138]|not provided [RCV001580465] Chr7:150958406..150958407 [GRCh38]
Chr7:150655494..150655495 [GRCh37]
Chr7:7q36.1		 uncertain significance|no classifications from unflagged records
NM_000238.4(KCNH2):c.826del (p.Cys276fs) deletion Long QT syndrome [RCV002517775]|not provided [RCV000181960] Chr7:150958149 [GRCh38]
Chr7:150655237 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.572del (p.Pro191fs) deletion Long QT syndrome [RCV001382671]|not provided [RCV000181961] Chr7:150958403 [GRCh38]
Chr7:150655491 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.732del (p.Gly246fs) deletion not provided [RCV000181962] Chr7:150958243 [GRCh38]
Chr7:150655331 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.735_754dup (p.Arg252fs) duplication Cardiac arrhythmia [RCV001842843]|Long QT syndrome [RCV000232953] Chr7:150958220..150958221 [GRCh38]
Chr7:150655308..150655309 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.809_812delinsAAAAGC (p.Thr270fs) indel Cardiac arrhythmia [RCV001842844] Chr7:150958163..150958166 [GRCh38]
Chr7:150655251..150655254 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.850_868del (p.Ser284fs) deletion Long QT syndrome [RCV001852294]|not provided [RCV000181965] Chr7:150958107..150958125 [GRCh38]
Chr7:150655195..150655213 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.853_859del (p.Ala285fs) deletion Cardiac arrhythmia [RCV001842845] Chr7:150958116..150958122 [GRCh38]
Chr7:150655204..150655210 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.885del (p.Leu296fs) deletion Long QT syndrome [RCV001852295]|not provided [RCV000181967] Chr7:150958090 [GRCh38]
Chr7:150655178 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.3(KCNH2):c.916+2_916+13delinsCT indel Cardiac arrhythmia [RCV000181968] Chr7:150958046..150958057 [GRCh38]
Chr7:150655134..150655145 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1014del (p.Asn339fs) deletion not provided [RCV000181969] Chr7:150957405 [GRCh38]
Chr7:150654493 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1132dup (p.Leu378fs) duplication not provided [RCV000181970] Chr7:150952849..150952850 [GRCh38]
Chr7:150649937..150649938 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.1150dup (p.Val384fs) duplication not provided [RCV000181971] Chr7:150952831..150952832 [GRCh38]
Chr7:150649919..150649920 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1201_1204dup (p.His402fs) duplication Cardiac arrhythmia [RCV001842846] Chr7:150952777..150952778 [GRCh38]
Chr7:150649865..150649866 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1316del (p.Gly439fs) deletion not provided [RCV000181973] Chr7:150952666 [GRCh38]
Chr7:150649754 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1319dup (p.Pro441fs) duplication not provided [RCV000181974] Chr7:150952662..150952663 [GRCh38]
Chr7:150649750..150649751 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1423_1425del (p.Tyr475del) deletion not provided [RCV000181975] Chr7:150952557..150952559 [GRCh38]
Chr7:150649645..150649647 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del) deletion Long QT syndrome 2 [RCV000015506]|Long QT syndrome [RCV003647757]|not provided [RCV000181976] Chr7:150952458..150952484 [GRCh38]
Chr7:150649546..150649572 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1676del (p.Leu559fs) deletion not provided [RCV000181977] Chr7:150951717 [GRCh38]
Chr7:150648805 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1701del (p.Trp568fs) deletion Long QT syndrome [RCV000631682]|not provided [RCV000181978] Chr7:150951692 [GRCh38]
Chr7:150648780 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.3(KCNH2):c.1911_1912delGA (p.Lys638Aspfs) deletion Cardiac arrhythmia [RCV000181979] Chr7:150951481..150951482 [GRCh38]
Chr7:150648569..150648570 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del) microsatellite Cardiovascular phenotype [RCV002408790]|Long QT syndrome 2 [RCV001248785]|Long QT syndrome [RCV000456814]|not provided [RCV000181980] Chr7:150951478..150951480 [GRCh38]
Chr7:150648566..150648568 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2115del (p.Trp705fs) deletion not provided [RCV000181981] Chr7:150950951 [GRCh38]
Chr7:150648039 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2395del (p.Leu799fs) deletion not provided [RCV000181982] Chr7:150950171 [GRCh38]
Chr7:150647259 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2419del (p.Glu807fs) deletion not provided [RCV000181983] Chr7:150949029 [GRCh38]
Chr7:150646117 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2456del (p.Asn819fs) deletion Long QT syndrome 2 [RCV000515716]|not provided [RCV000181984] Chr7:150948992 [GRCh38]
Chr7:150646080 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2684_2685insCC (p.Asp896fs) insertion not provided [RCV000181985] Chr7:150948451..150948452 [GRCh38]
Chr7:150645539..150645540 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2690_2691delinsC (p.Lys897fs) indel not provided [RCV000181986] Chr7:150948445..150948446 [GRCh38]
Chr7:150645533..150645534 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs) duplication Cardiovascular phenotype [RCV002426875]|Long QT syndrome [RCV000631709]|not provided [RCV000181987] Chr7:150947842..150947843 [GRCh38]
Chr7:150644930..150644931 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2727del (p.Pro910fs) deletion not provided [RCV000181988] Chr7:150947844 [GRCh38]
Chr7:150644932 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2732del (p.Gly911fs) deletion not provided [RCV000181989] Chr7:150947839 [GRCh38]
Chr7:150644927 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.3(KCNH2):c.2731_2732dupGG (p.Arg912Alafs) duplication Cardiac arrhythmia [RCV000181990] Chr7:150947839..150947840 [GRCh38]
Chr7:150644927..150644928 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2764del (p.Arg922fs) deletion not provided [RCV000181991] Chr7:150947807 [GRCh38]
Chr7:150644895 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2768del (p.Pro923fs) deletion not provided [RCV000181992] Chr7:150947803 [GRCh38]
Chr7:150644891 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) duplication Cardiac arrhythmia [RCV001842847]|Cardiovascular phenotype [RCV000249424]|Long QT syndrome 1/2, digenic [RCV000015521]|Long QT syndrome 2 [RCV000015520]|Long QT syndrome [RCV000204205]|not provided [RCV000181993] Chr7:150947795..150947796 [GRCh38]
Chr7:150644883..150644884 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2777del (p.Pro926fs) deletion Cardiac arrhythmia [RCV001842848]|Long QT syndrome [RCV001067773] Chr7:150947794 [GRCh38]
Chr7:150644882 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2783_2789del (p.Gly928fs) deletion Cardiac arrhythmia [RCV001842849] Chr7:150947782..150947788 [GRCh38]
Chr7:150644870..150644876 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2785dup (p.Glu929fs) duplication Cardiac arrhythmia [RCV001842850]|Cardiovascular phenotype [RCV002433799]|Long QT syndrome [RCV000698798]|not provided [RCV000181996] Chr7:150947785..150947786 [GRCh38]
Chr7:150644873..150644874 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2906del (p.Gly969fs) deletion not provided [RCV000181997] Chr7:150947665 [GRCh38]
Chr7:150644753 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2792del (p.Pro931fs) deletion not provided [RCV000181998] Chr7:150947779 [GRCh38]
Chr7:150644867 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2797dup (p.Ser933fs) duplication not provided [RCV000181999] Chr7:150947773..150947774 [GRCh38]
Chr7:150644861..150644862 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2892dup (p.Gly965fs) duplication Cardiovascular phenotype [RCV002433800]|Long QT syndrome [RCV001038920]|not provided [RCV000182000] Chr7:150947678..150947679 [GRCh38]
Chr7:150644766..150644767 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2916_2917dup (p.Leu973fs) duplication not provided [RCV000182002] Chr7:150947653..150947654 [GRCh38]
Chr7:150644741..150644742 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2966-2_2967dup duplication Cardiac arrhythmia [RCV001842851]|Long QT syndrome [RCV001389519]|not provided [RCV001594866] Chr7:150947512..150947513 [GRCh38]
Chr7:150644600..150644601 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|no classifications from unflagged records
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) deletion Cardiac arrhythmia [RCV001842852]|Cardiovascular phenotype [RCV000254145]|Long QT syndrome 2 [RCV002470798]|Long QT syndrome [RCV000471453]|Short QT syndrome type 1 [RCV003227698]|not provided [RCV000182004] Chr7:150947611..150947612 [GRCh38]
Chr7:150644699..150644700 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.3079dup (p.Leu1027fs) duplication Cardiac arrhythmia [RCV001842853] Chr7:150947400..150947401 [GRCh38]
Chr7:150644488..150644489 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs) deletion Cardiovascular phenotype [RCV002321716]|Long QT syndrome [RCV000702086]|not provided [RCV000182006] Chr7:150947371..150947381 [GRCh38]
Chr7:150644459..150644469 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs) duplication Cardiac arrhythmia [RCV001842854]|Cardiovascular phenotype [RCV002321717]|Long QT syndrome [RCV003532024] Chr7:150947380..150947381 [GRCh38]
Chr7:150644468..150644469 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3103del (p.Arg1035fs) deletion Long QT syndrome [RCV000463445]|not provided [RCV000182008] Chr7:150947377 [GRCh38]
Chr7:150644465 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3104_3107dup (p.Asp1037fs) duplication not provided [RCV000182009] Chr7:150947372..150947373 [GRCh38]
Chr7:150644460..150644461 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3105_3112dup (p.Val1038fs) duplication Cardiac arrhythmia [RCV001842855]|Long QT syndrome [RCV000231614] Chr7:150947367..150947368 [GRCh38]
Chr7:150644455..150644456 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3112_3129delinsCA (p.Val1038fs) indel not provided [RCV000182011] Chr7:150947351..150947368 [GRCh38]
Chr7:150644439..150644456 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3136del (p.Gln1046fs) deletion Cardiac arrhythmia [RCV001842856] Chr7:150947344 [GRCh38]
Chr7:150644432 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3251dup (p.Pro1086fs) duplication Long QT syndrome [RCV001240040]|not provided [RCV000182013] Chr7:150946955..150946956 [GRCh38]
Chr7:150644043..150644044 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3470dup (p.Ser1159fs) duplication not provided [RCV000182014] Chr7:150945374..150945375 [GRCh38]
Chr7:150642462..150642463 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.81dup (p.Lys28Ter) duplication Long QT syndrome [RCV001064849]|not provided [RCV000182015] Chr7:150974936..150974937 [GRCh38]
Chr7:150672024..150672025 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.244_252dup (p.Gln84_Ala85insIleAlaGln) duplication Cardiac arrhythmia [RCV001842857]|Long QT syndrome [RCV003532025]|not provided [RCV001753583] Chr7:150974765..150974766 [GRCh38]
Chr7:150671853..150671854 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance|no classifications from unflagged records
NM_000238.3(KCNH2):c.472+1G>C single nucleotide variant Cardiac arrhythmia [RCV000182017] Chr7:150959571 [GRCh38]
Chr7:150656659 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1129-1G>A single nucleotide variant Long QT syndrome [RCV000706917]|not provided [RCV000182018] Chr7:150952854 [GRCh38]
Chr7:150649942 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.758C>G (p.Ala253Gly) single nucleotide variant not provided [RCV000182019] Chr7:150958217 [GRCh38]
Chr7:150655305 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1600C>A (p.Arg534Ser) single nucleotide variant Long QT syndrome [RCV000473348]|not provided [RCV000182023] Chr7:150951793 [GRCh38]
Chr7:150648881 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1802G>A (p.Gly601Asp) single nucleotide variant not provided [RCV000182024] Chr7:150951591 [GRCh38]
Chr7:150648679 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr) single nucleotide variant Cardiovascular phenotype [RCV002408791]|Long QT syndrome [RCV000531749]|not provided [RCV000182026] Chr7:150951709 [GRCh38]
Chr7:150648797 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1694C>T (p.Ala565Val) single nucleotide variant not provided [RCV000182027] Chr7:150951699 [GRCh38]
Chr7:150648787 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.1742C>A (p.Ser581Ter) single nucleotide variant Long QT syndrome [RCV003532026]|not provided [RCV000182028] Chr7:150951651 [GRCh38]
Chr7:150648739 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1754G>T (p.Trp585Leu) single nucleotide variant Long QT syndrome [RCV001852296]|not provided [RCV000182029] Chr7:150951639 [GRCh38]
Chr7:150648727 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1811G>T (p.Gly604Val) single nucleotide variant not provided [RCV000182030] Chr7:150951582 [GRCh38]
Chr7:150648670 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1837A>T (p.Thr613Ser) single nucleotide variant not provided [RCV000182031] Chr7:150951556 [GRCh38]
Chr7:150648644 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1881C>A (p.Phe627Leu) single nucleotide variant Long QT syndrome [RCV001385333]|not provided [RCV000182034] Chr7:150951512 [GRCh38]
Chr7:150648600 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1882G>C (p.Gly628Arg) single nucleotide variant Cardiovascular phenotype [RCV002408792]|not provided [RCV000182035] Chr7:150951511 [GRCh38]
Chr7:150648599 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.1918T>C (p.Phe640Leu) single nucleotide variant Long QT syndrome 2 [RCV000678951]|not provided [RCV000182036] Chr7:150951475 [GRCh38]
Chr7:150648563 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1943G>A (p.Gly648Asp) single nucleotide variant Long QT syndrome [RCV003532027]|not provided [RCV000182037] Chr7:150951450 [GRCh38]
Chr7:150648538 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1945+1G>A single nucleotide variant not provided [RCV000182038] Chr7:150951447 [GRCh38]
Chr7:150648535 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.1946-2A>C single nucleotide variant Cardiovascular phenotype [RCV002408793]|Long QT syndrome [RCV001035147]|not provided [RCV000182039] Chr7:150951122 [GRCh38]
Chr7:150648210 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.373_374insGTGG (p.Phe125fs) insertion Cardiac arrhythmia [RCV001842858]|Long QT syndrome [RCV003647758] Chr7:150959670..150959671 [GRCh38]
Chr7:150656758..150656759 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1954_1956delinsCAC (p.Tyr652His) indel not provided [RCV001731505] Chr7:150951110..150951112 [GRCh38]
Chr7:150648198..150648200 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|association|uncertain significance
NM_000238.4(KCNH2):c.2168G>A (p.Cys723Tyr) single nucleotide variant not provided [RCV000182042] Chr7:150950398 [GRCh38]
Chr7:150647486 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2200C>T (p.Arg734Cys) single nucleotide variant Cardiac arrhythmia [RCV001842859]|Long QT syndrome [RCV001351486]|not provided [RCV000182043] Chr7:150950366 [GRCh38]
Chr7:150647454 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2261T>G (p.Leu754Arg) single nucleotide variant not provided [RCV000182044] Chr7:150950305 [GRCh38]
Chr7:150647393 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.156C>A (p.Cys52Ter) single nucleotide variant Long QT syndrome [RCV001236747] Chr7:150974862 [GRCh38]
Chr7:150671950 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.170C>T (p.Ala57Val) single nucleotide variant Long QT syndrome [RCV001852297]|not provided [RCV000182050] Chr7:150974848 [GRCh38]
Chr7:150671936 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.235G>C (p.Ala79Pro) single nucleotide variant not provided [RCV000182052] Chr7:150974783 [GRCh38]
Chr7:150671871 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.3(KCNH2):c.361delG (p.Ala121Leufs) deletion Cardiac arrhythmia [RCV000182054] Chr7:150959683 [GRCh38]
Chr7:150656771 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.678del (p.Ala228fs) deletion Long QT syndrome 2 [RCV000678912]|Long QT syndrome [RCV001385719]|not provided [RCV000182055] Chr7:150958297 [GRCh38]
Chr7:150655385 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1142del (p.Gly381fs) deletion Cardiac arrhythmia [RCV001842860]|Cardiovascular phenotype [RCV002453654] Chr7:150952840 [GRCh38]
Chr7:150649928 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1285del (p.Ala429fs) deletion Long QT syndrome [RCV002516852]|not provided [RCV000182057] Chr7:150952697 [GRCh38]
Chr7:150649785 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1815del (p.Ser606fs) deletion Cardiac arrhythmia [RCV001842861] Chr7:150951578 [GRCh38]
Chr7:150648666 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2053del (p.Arg685fs) deletion Cardiac arrhythmia [RCV001842862] Chr7:150951013 [GRCh38]
Chr7:150648101 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2084del (p.Gln695fs) deletion not provided [RCV000182060] Chr7:150950982 [GRCh38]
Chr7:150648070 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2734_2738dup (p.Ala915fs) microsatellite Cardiovascular phenotype [RCV003165389]|not provided [RCV000182061] Chr7:150947832..150947833 [GRCh38]
Chr7:150644920..150644921 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2857del (p.Leu953fs) deletion Long QT syndrome [RCV001852298]|not provided [RCV000182062] Chr7:150947714 [GRCh38]
Chr7:150644802 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_000238.4(KCNH2):c.3017del (p.Gly1006fs) deletion Long QT syndrome 2 [RCV001089526]|Long QT syndrome [RCV000461198]|Short QT syndrome type 1 [RCV003227699]|not provided [RCV000182063] Chr7:150947463 [GRCh38]
Chr7:150644551 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3107del (p.Gly1036fs) deletion Cardiovascular phenotype [RCV002321718]|Long QT syndrome [RCV000469782]|not provided [RCV000182064] Chr7:150947373 [GRCh38]
Chr7:150644461 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3107dup (p.Asp1037fs) duplication Cardiovascular phenotype [RCV000618925]|Long QT syndrome [RCV000809575]|not provided [RCV000182065] Chr7:150947372..150947373 [GRCh38]
Chr7:150644460..150644461 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.100del (p.Ala34fs) deletion Cardiac arrhythmia [RCV001842863]|Cardiovascular phenotype [RCV002433801]|Long QT syndrome [RCV001382672] Chr7:150974918 [GRCh38]
Chr7:150672006 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.106del (p.Val36fs) deletion Cardiac arrhythmia [RCV001842864] Chr7:150974912 [GRCh38]
Chr7:150672000 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.154del (p.Cys52fs) deletion Cardiac arrhythmia [RCV001842865]|Long QT syndrome [RCV000796540] Chr7:150974864 [GRCh38]
Chr7:150671952 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.729C>T (p.Ser243=) single nucleotide variant Cardiovascular phenotype [RCV002381681]|Long QT syndrome [RCV000195872] Chr7:150958246 [GRCh38]
Chr7:150655334 [GRCh37]
Chr7:7q36.1		 likely pathogenic|likely benign
NM_000238.4(KCNH2):c.1849T>C (p.Phe617Leu) single nucleotide variant Long QT syndrome [RCV000190214] Chr7:150951544 [GRCh38]
Chr7:150648632 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.307+2T>A single nucleotide variant Long QT syndrome [RCV000190216] Chr7:150974709 [GRCh38]
Chr7:150671797 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2145+1G>A single nucleotide variant Cardiovascular phenotype [RCV002429194]|Long QT syndrome [RCV000477020]|not provided [RCV000255301] Chr7:150950920 [GRCh38]
Chr7:150648008 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2405A>G (p.Asn802Ser) single nucleotide variant Long QT syndrome [RCV000197489]|Short QT syndrome type 1 [RCV002478704]|not provided [RCV002223816] Chr7:150949043 [GRCh38]
Chr7:150646131 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.3(KCNH2):c.473_501dup (p.Pro168Alafs) duplication Long QT syndrome [RCV000198392] Chr7:150958473..150958474 [GRCh38]
Chr7:150655561..150655562 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.27G>T (p.Ala9=) single nucleotide variant Cardiac arrhythmia [RCV001842948]|Long QT syndrome [RCV001437630] Chr7:150977887 [GRCh38]
Chr7:150674975 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3390A>G (p.Glu1130=) single nucleotide variant Cardiac arrhythmia [RCV001841445]|Cardiovascular phenotype [RCV000622188]|Long QT syndrome [RCV000542602]|not provided [RCV001644625] Chr7:150945455 [GRCh38]
Chr7:150642543 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) single nucleotide variant Cardiac arrhythmia [RCV001842946]|Cardiovascular phenotype [RCV000247948]|Long QT syndrome 2 [RCV001095199]|Long QT syndrome [RCV000199781]|not provided [RCV000591334]|not specified [RCV001797676] Chr7:150952662 [GRCh38]
Chr7:150649750 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.2739G>A (p.Ala913=) single nucleotide variant Cardiac arrhythmia [RCV001842949]|Cardiovascular phenotype [RCV000621352]|KCNH2-related condition [RCV003937754]|Long QT syndrome 2 [RCV001160953]|Long QT syndrome [RCV000200042]|not provided [RCV003221857]|not specified [RCV000437620] Chr7:150947832 [GRCh38]
Chr7:150644920 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1786C>G (p.Pro596Ala) single nucleotide variant Long QT syndrome 2 [RCV000202321] Chr7:150951607 [GRCh38]
Chr7:150648695 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1238T>G (p.Leu413Arg) single nucleotide variant Long QT syndrome 2 [RCV000258955] Chr7:150952744 [GRCh38]
Chr7:150649832 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.3094del (p.Arg1032fs) deletion Cardiovascular phenotype [RCV000621802]|Long QT syndrome [RCV000204772]|not provided [RCV000413486] Chr7:150947386 [GRCh38]
Chr7:150644474 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3060del (p.Ser1021fs) deletion Long QT syndrome 2 [RCV003485562]|Long QT syndrome [RCV000204955]|not provided [RCV003441783] Chr7:150947420 [GRCh38]
Chr7:150644508 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.1809C>T (p.Gly603=) single nucleotide variant Cardiac arrhythmia [RCV001842957]|Cardiovascular phenotype [RCV000620782]|Long QT syndrome 2 [RCV001095279]|Long QT syndrome [RCV000205663]|not provided [RCV000712074] Chr7:150951584 [GRCh38]
Chr7:150648672 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000238.4(KCNH2):c.345GAA[1] (p.Lys116del) microsatellite Cardiovascular phenotype [RCV002453735]|Long QT syndrome [RCV000205717]|not specified [RCV000599424] Chr7:150959694..150959696 [GRCh38]
Chr7:150656782..150656784 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2127C>T (p.Asn709=) single nucleotide variant Cardiac arrhythmia [RCV001842954]|Cardiovascular phenotype [RCV000620032]|Long QT syndrome 2 [RCV001095277]|Long QT syndrome [RCV000206657] Chr7:150950939 [GRCh38]
Chr7:150648027 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.1582C>T (p.Arg528Trp) single nucleotide variant Cardiac arrhythmia [RCV001842956]|Cardiovascular phenotype [RCV002399763]|Long QT syndrome [RCV000206797]|not provided [RCV002307446] Chr7:150951811 [GRCh38]
Chr7:150648899 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.853G>A (p.Ala285Thr) single nucleotide variant Long QT syndrome [RCV000206815] Chr7:150958122 [GRCh38]
Chr7:150655210 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.621C>T (p.Ser207=) single nucleotide variant Cardiovascular phenotype [RCV000617927]|KCNH2-related condition [RCV003907768]|Long QT syndrome [RCV001082846]|Short QT syndrome type 1 [RCV003224224]|not provided [RCV000206833]|not specified [RCV003230451] Chr7:150958354 [GRCh38]
Chr7:150655442 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter) single nucleotide variant Cardiovascular phenotype [RCV002453742]|Inborn genetic diseases [RCV000624478]|Long QT syndrome [RCV000203902]|not provided [RCV000414460] Chr7:150948861 [GRCh38]
Chr7:150645949 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1402dup (p.Leu468fs) duplication Long QT syndrome 2 [RCV000208164] Chr7:150952579..150952580 [GRCh38]
Chr7:150649667..150649668 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile) single nucleotide variant Cardiovascular phenotype [RCV002408905]|Long QT syndrome 2 [RCV000208259]|Long QT syndrome [RCV000781487] Chr7:150951505 [GRCh38]
Chr7:150648593 [GRCh37]
Chr7:7q36.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.2692+8G>A single nucleotide variant Long QT syndrome [RCV000208265] Chr7:150948436 [GRCh38]
Chr7:150645524 [GRCh37]
Chr7:7q36.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.2216A>G (p.His739Arg) single nucleotide variant Long QT syndrome [RCV000208451] Chr7:150950350 [GRCh38]
Chr7:150647438 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.774dup (p.Asp259fs) duplication Long QT syndrome 2 [RCV000208523] Chr7:150958200..150958201 [GRCh38]
Chr7:150655288..150655289 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2053C>T (p.Arg685Cys) single nucleotide variant Long QT syndrome 2 [RCV000519050]|Long QT syndrome [RCV000631573]|not provided [RCV001811024] Chr7:150951013 [GRCh38]
Chr7:150648101 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.448C>T (p.Pro150Ser) single nucleotide variant Ventricular tachycardia [RCV000208037] Chr7:150959596 [GRCh38]
Chr7:150656684 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala) single nucleotide variant Long QT syndrome 2 [RCV000208076]|Long QT syndrome [RCV000845366] Chr7:150951519 [GRCh38]
Chr7:150648607 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.77-5C>T single nucleotide variant Cardiac arrhythmia [RCV001842959]|Cardiovascular phenotype [RCV002408906]|Long QT syndrome [RCV000208081] Chr7:150974946 [GRCh38]
Chr7:150672034 [GRCh37]
Chr7:7q36.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.2236G>T (p.Ala746Ser) single nucleotide variant Long QT syndrome [RCV000208095]|not provided [RCV001577528] Chr7:150950330 [GRCh38]
Chr7:150647418 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.76+8G>A single nucleotide variant Long QT syndrome [RCV001462980] Chr7:150977830 [GRCh38]
Chr7:150674918 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3216G>A (p.Thr1072=) single nucleotide variant Cardiac arrhythmia [RCV001842998]|Cardiovascular phenotype [RCV002444882]|KCNH2-related condition [RCV003919918]|Long QT syndrome [RCV000229444] Chr7:150946991 [GRCh38]
Chr7:150644079 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.3365C>G (p.Pro1122Arg) single nucleotide variant not specified [RCV000223795] Chr7:150945480 [GRCh38]
Chr7:150642568 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1641G>A (p.Ala547=) single nucleotide variant Cardiac arrhythmia [RCV001842992]|Cardiovascular phenotype [RCV002399809]|Long QT syndrome [RCV000232673]|not provided [RCV001705239] Chr7:150951752 [GRCh38]
Chr7:150648840 [GRCh37]
Chr7:7q36.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.2291C>T (p.Pro764Leu) single nucleotide variant Cardiac arrhythmia [RCV001842994]|Long QT syndrome [RCV000227941] Chr7:150950275 [GRCh38]
Chr7:150647363 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1479C>A (p.Tyr493Ter) single nucleotide variant Long QT syndrome [RCV000228054] Chr7:150952503 [GRCh38]
Chr7:150649591 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1644C>T (p.Ala548=) single nucleotide variant Cardiac arrhythmia [RCV001842993]|Cardiovascular phenotype [RCV000619734]|Long QT syndrome 2 [RCV001159679]|Long QT syndrome [RCV000226582]|not provided [RCV001722210] Chr7:150951749 [GRCh38]
Chr7:150648837 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1528C>T (p.Leu510=) single nucleotide variant Cardiac arrhythmia [RCV001842991]|Cardiovascular phenotype [RCV000253513]|Long QT syndrome 2 [RCV001159684]|Long QT syndrome [RCV000232077]|not provided [RCV001658052]|not specified [RCV000597187] Chr7:150952454 [GRCh38]
Chr7:150649542 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance
NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn) single nucleotide variant Cardiac arrhythmia [RCV001842997]|Cardiovascular phenotype [RCV002433951]|Long QT syndrome 2 [RCV000987998]|Long QT syndrome [RCV000232149]|Short QT syndrome type 1 [RCV002487047]|not provided [RCV002273994] Chr7:150947627 [GRCh38]
Chr7:150644715 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1332G>A (p.Glu444=) single nucleotide variant Cardiac arrhythmia [RCV001842989]|Cardiovascular phenotype [RCV000621527]|Long QT syndrome 2 [RCV000238681]|Long QT syndrome [RCV000232486]|not provided [RCV001706245]|not specified [RCV001699243] Chr7:150952650 [GRCh38]
Chr7:150649738 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro) single nucleotide variant Cardiovascular phenotype [RCV000617874]|Long QT syndrome [RCV000464070]|not provided [RCV001546262]|not specified [RCV000223929] Chr7:150951588 [GRCh38]
Chr7:150648676 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.194C>G (p.Thr65Ser) single nucleotide variant Long QT syndrome [RCV000231224] Chr7:150974824 [GRCh38]
Chr7:150671912 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2901G>T (p.Pro967=) single nucleotide variant Cardiac arrhythmia [RCV001842995]|Long QT syndrome [RCV000234231]|not specified [RCV000602852] Chr7:150947670 [GRCh38]
Chr7:150644758 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2902C>G (p.Pro968Ala) single nucleotide variant Cardiac arrhythmia [RCV001842996]|Cardiovascular phenotype [RCV002433950]|Long QT syndrome [RCV000228110]|Short QT syndrome type 1 [RCV002478834]|not provided [RCV000712076] Chr7:150947669 [GRCh38]
Chr7:150644757 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1467C>A (p.Ile489=) single nucleotide variant Cardiac arrhythmia [RCV001842990]|KCNH2-related condition [RCV003907851]|Long QT syndrome [RCV001087641]|not provided [RCV000831089] Chr7:150952515 [GRCh38]
Chr7:150649603 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+7G>A single nucleotide variant Long QT syndrome [RCV001083314]|not provided [RCV000712072] Chr7:150957284 [GRCh38]
Chr7:150654372 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.3095_3099dup (p.Pro1034fs) duplication not provided [RCV000223868] Chr7:150947380..150947381 [GRCh38]
Chr7:150644468..150644469 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.3098G>A (p.Arg1033Gln) single nucleotide variant Cardiac arrhythmia [RCV001841439]|Long QT syndrome [RCV000546988] Chr7:150947382 [GRCh38]
Chr7:150644470 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2774_2775delinsTT (p.Gly925Val) indel Long QT syndrome [RCV001367745] Chr7:150947796..150947797 [GRCh38]
Chr7:150644884..150644885 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1500C>T (p.Ile500=) single nucleotide variant Cardiac arrhythmia [RCV001841427]|Cardiovascular phenotype [RCV000619850]|Long QT syndrome [RCV000525629]|not specified [RCV001256844] Chr7:150952482 [GRCh38]
Chr7:150649570 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.732G>T (p.Ala244=) single nucleotide variant Long QT syndrome 2 [RCV001164706]|Long QT syndrome [RCV000631813]|not specified [RCV000600399] Chr7:150958243 [GRCh38]
Chr7:150655331 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.212G>A (p.Gly71Glu) single nucleotide variant Cardiovascular phenotype [RCV000243747]|Long QT syndrome [RCV002518733] Chr7:150974806 [GRCh38]
Chr7:150671894 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.3125T>C (p.Leu1042Pro) single nucleotide variant Cardiovascular phenotype [RCV000246468]|not provided [RCV000845534] Chr7:150947355 [GRCh38]
Chr7:150644443 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.156C>T (p.Cys52=) single nucleotide variant Cardiovascular phenotype [RCV000253684]|Long QT syndrome [RCV001487899]|Short QT syndrome type 1 [RCV002494786]|not specified [RCV000435276] Chr7:150974862 [GRCh38]
Chr7:150671950 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.695G>T (p.Arg232Leu) single nucleotide variant Cardiovascular phenotype [RCV000246735]|Long QT syndrome [RCV001854994]|Short QT syndrome type 1 [RCV002479989] Chr7:150958280 [GRCh38]
Chr7:150655368 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1557+1G>A single nucleotide variant Cardiovascular phenotype [RCV000246773] Chr7:150952424 [GRCh38]
Chr7:150649512 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1512C>G (p.Ala504=) single nucleotide variant Long QT syndrome [RCV001494647] Chr7:150952470 [GRCh38]
Chr7:150649558 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.234_241del (p.Ala79fs) deletion Cardiovascular phenotype [RCV000244733]|Long QT syndrome 2 [RCV002463670]|not provided [RCV001508226] Chr7:150974777..150974784 [GRCh38]
Chr7:150671865..150671872 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2595C>T (p.Thr865=) single nucleotide variant Cardiac arrhythmia [RCV001843025]|Cardiovascular phenotype [RCV000249613]|Long QT syndrome [RCV000865860]|not specified [RCV000439401] Chr7:150948541 [GRCh38]
Chr7:150645629 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1467C>T (p.Ile489=) single nucleotide variant Cardiac arrhythmia [RCV001843015]|Cardiovascular phenotype [RCV000247572]|Long QT syndrome 2 [RCV001095198]|Long QT syndrome [RCV000350054]|not provided [RCV001706292]|not specified [RCV000248884] Chr7:150952515 [GRCh38]
Chr7:150649603 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.980A>G (p.Tyr327Cys) single nucleotide variant Cardiovascular phenotype [RCV000245215] Chr7:150957439 [GRCh38]
Chr7:150654527 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer) duplication Long QT syndrome 2 [RCV000496674] Chr7:150947389..150947390 [GRCh38]
Chr7:150644479..150644753 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.93C>T (p.Ile31=) single nucleotide variant Cardiovascular phenotype [RCV002377009]|Long QT syndrome [RCV000547958] Chr7:150974925 [GRCh38]
Chr7:150672013 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2343C>G (p.Phe781Leu) single nucleotide variant Cardiovascular phenotype [RCV000250675] Chr7:150950223 [GRCh38]
Chr7:150647311 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2678_2683dup (p.Arg893_Arg894dup) duplication not provided [RCV000350809] Chr7:150948452..150948453 [GRCh38]
Chr7:150645540..150645541 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.196T>C (p.Cys66Arg) single nucleotide variant Long QT syndrome [RCV000553516] Chr7:150974822 [GRCh38]
Chr7:150671910 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2148G>T (p.Val716=) single nucleotide variant Cardiovascular phenotype [RCV003311172] Chr7:150950418 [GRCh38]
Chr7:150647506 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.665_669delinsC (p.Val222fs) indel not provided [RCV000489511] Chr7:150958306..150958310 [GRCh38]
Chr7:150655394..150655398 [GRCh37]
Chr7:7q36.1		 pathogenic
NC_000007.14:g.150978408_150978409insA insertion not provided [RCV001566641] Chr7:150978408..150978409 [GRCh38]
Chr7:150675496..150675497 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.235G>A (p.Ala79Thr) single nucleotide variant Cardiac arrhythmia [RCV001841201]|Long QT syndrome [RCV001880172]|Short QT syndrome type 1 [RCV002486016]|not specified [RCV001269121] Chr7:150974783 [GRCh38]
Chr7:150671871 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1825_1830del (p.Asp609_Lys610del) deletion Long QT syndrome [RCV001368062] Chr7:150951563..150951568 [GRCh38]
Chr7:150648651..150648656 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2927del (p.Asp976fs) deletion Cardiovascular phenotype [RCV003311171] Chr7:150947644 [GRCh38]
Chr7:150644732 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1970G>T (p.Gly657Val) single nucleotide variant not provided [RCV000490005] Chr7:150951096 [GRCh38]
Chr7:150648184 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.3153-13C>T single nucleotide variant Cardiac arrhythmia [RCV001841272]|Long QT syndrome [RCV000310070] Chr7:150947067 [GRCh38]
Chr7:150644155 [GRCh37]
Chr7:7q36.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.3058C>T (p.Pro1020Ser) single nucleotide variant Long QT syndrome [RCV000311447] Chr7:150947422 [GRCh38]
Chr7:150644510 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.*195C>A single nucleotide variant Long QT syndrome [RCV000316338] Chr7:150945170 [GRCh38]
Chr7:150642258 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2145+9A>T single nucleotide variant Long QT syndrome 2 [RCV001095235]|Long QT syndrome [RCV000318045]|not provided [RCV001712757]|not specified [RCV001553585] Chr7:150950912 [GRCh38]
Chr7:150648000 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.-207C>T single nucleotide variant Long QT syndrome 2 [RCV000323666]|Short QT syndrome type 1 [RCV002488802] Chr7:150978120 [GRCh38]
Chr7:150675208 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.*397T>C single nucleotide variant Long QT syndrome 2 [RCV000333944] Chr7:150944968 [GRCh38]
Chr7:150642056 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser) single nucleotide variant Cardiac arrhythmia [RCV001841270]|Cardiovascular phenotype [RCV000617989]|Long QT syndrome [RCV000340691]|Short QT syndrome type 1 [RCV000765942]|not provided [RCV001706593] Chr7:150945409 [GRCh38]
Chr7:150642497 [GRCh37]
Chr7:7q36.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.3215C>T (p.Thr1072Met) single nucleotide variant Cardiac arrhythmia [RCV001841271]|Cardiovascular phenotype [RCV002323561]|Long QT syndrome 2 [RCV001095274]|Long QT syndrome [RCV000345198]|not provided [RCV000712080] Chr7:150946992 [GRCh38]
Chr7:150644080 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1612A>G (p.Lys538Glu) single nucleotide variant Long QT syndrome [RCV000344441] Chr7:150951781 [GRCh38]
Chr7:150648869 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.961G>T (p.Asp321Tyr) single nucleotide variant Long QT syndrome 2 [RCV000351271]|Long QT syndrome [RCV003766065]|not provided [RCV001764326] Chr7:150957458 [GRCh38]
Chr7:150654546 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2382C>T (p.Val794=) single nucleotide variant Cardiac arrhythmia [RCV001841273]|Long QT syndrome 2 [RCV000352909]|Long QT syndrome [RCV001485642]|not specified [RCV000603850] Chr7:150950184 [GRCh38]
Chr7:150647272 [GRCh37]
Chr7:7q36.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.853G>T (p.Ala285Ser) single nucleotide variant Long QT syndrome [RCV000357284] Chr7:150958122 [GRCh38]
Chr7:150655210 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.77-5C>G single nucleotide variant Cardiac arrhythmia [RCV001841275]|Cardiovascular phenotype [RCV002411254]|KCNH2-related condition [RCV003902396]|Long QT syndrome 2 [RCV001095172]|Long QT syndrome [RCV000358645]|not provided [RCV000712084]|not specified [RCV001700351] Chr7:150974946 [GRCh38]
Chr7:150672034 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.3152+12C>A single nucleotide variant Long QT syndrome 2 [RCV000364715]|Long QT syndrome [RCV002058658]|not provided [RCV001643086]|not specified [RCV000594595] Chr7:150947316 [GRCh38]
Chr7:150644404 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2890C>G (p.Pro964Ala) single nucleotide variant Long QT syndrome 2 [RCV000370679]|Long QT syndrome [RCV001317694] Chr7:150947681 [GRCh38]
Chr7:150644769 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.675C>G (p.Leu225=) single nucleotide variant Cardiovascular phenotype [RCV002365421]|Long QT syndrome 2 [RCV000262502] Chr7:150958300 [GRCh38]
Chr7:150655388 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=) single nucleotide variant Cardiac arrhythmia [RCV001841274]|Cardiovascular phenotype [RCV002446611]|Long QT syndrome 2 [RCV001095234]|Long QT syndrome [RCV000262824]|not provided [RCV000589926]|not specified [RCV000419773] Chr7:150950235 [GRCh38]
Chr7:150647323 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.*112C>T single nucleotide variant Long QT syndrome 2 [RCV000375650]|not provided [RCV001566026] Chr7:150945253 [GRCh38]
Chr7:150642341 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.-272C>T single nucleotide variant Long QT syndrome [RCV000380726] Chr7:150978185 [GRCh38]
Chr7:150675273 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.*367C>A single nucleotide variant Long QT syndrome [RCV000388491] Chr7:150944998 [GRCh38]
Chr7:150642086 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3416C>T (p.Pro1139Leu) single nucleotide variant Long QT syndrome [RCV000397577]|Short QT syndrome type 1 [RCV002480243] Chr7:150945429 [GRCh38]
Chr7:150642517 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.897A>G (p.Pro299=) single nucleotide variant Long QT syndrome 2 [RCV000399472] Chr7:150958078 [GRCh38]
Chr7:150655166 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.*228G>A single nucleotide variant Long QT syndrome 2 [RCV000280069] Chr7:150945137 [GRCh38]
Chr7:150642225 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2265C>T (p.Ala755=) single nucleotide variant Cardiac arrhythmia [RCV001841434]|Cardiovascular phenotype [RCV002448627]|Long QT syndrome [RCV001419240]|not specified [RCV000616014] Chr7:150950301 [GRCh38]
Chr7:150647389 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1620del (p.Arg541fs) deletion Cardiovascular phenotype [RCV000620115] Chr7:150951773 [GRCh38]
Chr7:150648861 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.6G>A (p.Pro2=) single nucleotide variant Long QT syndrome [RCV001466538]|not specified [RCV000605414] Chr7:150977908 [GRCh38]
Chr7:150674996 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.*15G>A single nucleotide variant Cardiovascular phenotype [RCV002365420]|Long QT syndrome 2 [RCV000281043]|not provided [RCV001653718]|not specified [RCV001194447] Chr7:150945350 [GRCh38]
Chr7:150642438 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2525T>C (p.Leu842Pro) single nucleotide variant Cardiovascular phenotype [RCV000621165]|Long QT syndrome [RCV001868109] Chr7:150948923 [GRCh38]
Chr7:150646011 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2692+14G>A single nucleotide variant Long QT syndrome [RCV002062911]|not specified [RCV000600600] Chr7:150948430 [GRCh38]
Chr7:150645518 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.868G>T (p.Ala290Ser) single nucleotide variant Long QT syndrome [RCV000297821] Chr7:150958107 [GRCh38]
Chr7:150655195 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3321G>A (p.Ser1107=) single nucleotide variant Cardiac arrhythmia [RCV001841444]|Cardiovascular phenotype [RCV000618767]|Long QT syndrome [RCV001084947]|not provided [RCV000549341]|not specified [RCV000588785] Chr7:150946886 [GRCh38]
Chr7:150643974 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance
NM_000238.4(KCNH2):c.1703G>C (p.Trp568Ser) single nucleotide variant Long QT syndrome [RCV000622940] Chr7:150951690 [GRCh38]
Chr7:150648778 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.773C>T (p.Pro258Leu) single nucleotide variant Cardiovascular phenotype [RCV002404592]|Long QT syndrome [RCV001853975]|Short QT syndrome type 1 [RCV002491163]|not provided [RCV000587153] Chr7:150958202 [GRCh38]
Chr7:150655290 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.681C>A (p.Pro227=) single nucleotide variant Long QT syndrome [RCV003647789]|not specified [RCV000606411] Chr7:150958294 [GRCh38]
Chr7:150655382 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.393G>A (p.Val131=) single nucleotide variant Long QT syndrome [RCV000935678]|not specified [RCV000603282] Chr7:150959651 [GRCh38]
Chr7:150656739 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.555G>A (p.Ala185=) single nucleotide variant Cardiovascular phenotype [RCV003162751]|Long QT syndrome [RCV000862486]|not provided [RCV001704760] Chr7:150958420 [GRCh38]
Chr7:150655508 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1847_1855del (p.Tyr616_Thr618del) deletion not provided [RCV001707749] Chr7:150951538..150951546 [GRCh38]
Chr7:150648626..150648634 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.249G>A (p.Ala83=) single nucleotide variant Cardiovascular phenotype [RCV002431537]|Long QT syndrome [RCV000549893] Chr7:150974769 [GRCh38]
Chr7:150671857 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.162C>A (p.Tyr54Ter) single nucleotide variant not provided [RCV000578654] Chr7:150974856 [GRCh38]
Chr7:150671944 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.221_251del (p.Thr74fs) deletion Long QT syndrome [RCV000631615]|not provided [RCV000598913] Chr7:150974767..150974797 [GRCh38]
Chr7:150671855..150671885 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs) duplication Long QT syndrome [RCV001381540]|not provided [RCV000627533] Chr7:150958423..150958424 [GRCh38]
Chr7:150655511..150655512 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2482_2491del (p.Cys828fs) deletion not provided [RCV000599154] Chr7:150948957..150948966 [GRCh38]
Chr7:150646045..150646054 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.774C>T (p.Pro258=) single nucleotide variant Cardiovascular phenotype [RCV002413664]|not specified [RCV000589177] Chr7:150958201 [GRCh38]
Chr7:150655289 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.3106_3112dup (p.Val1038fs) duplication not provided [RCV000599408] Chr7:150947367..150947368 [GRCh38]
Chr7:150644455..150644456 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.453dup (p.Thr152fs) duplication Cardiovascular phenotype [RCV002331026]|Long QT syndrome 2 [RCV000988003]|Long QT syndrome [RCV000631596]|not provided [RCV000599277] Chr7:150959590..150959591 [GRCh38]
Chr7:150656678..150656679 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2398+1_2398+8del deletion not provided [RCV000599355] Chr7:150950160..150950167 [GRCh38]
Chr7:150647248..150647255 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.3448C>A (p.Leu1150Met) single nucleotide variant Cardiac arrhythmia [RCV001841446]|Cardiovascular phenotype [RCV002456056]|Long QT syndrome [RCV000555194]|not provided [RCV001570323] Chr7:150945397 [GRCh38]
Chr7:150642485 [GRCh37]
Chr7:7q36.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000238.4(KCNH2):c.3093_3106del (p.Pro1034fs) deletion Long QT syndrome [RCV001854120]|not provided [RCV000599480] Chr7:150947374..150947387 [GRCh38]
Chr7:150644462..150644475 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3097_3098dup (p.Pro1034fs) duplication Long QT syndrome [RCV000529822]|not provided [RCV001008899] Chr7:150947381..150947382 [GRCh38]
Chr7:150644469..150644470 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.555_569del (p.Gly186_Ala190del) deletion Long QT syndrome [RCV000552293] Chr7:150958406..150958420 [GRCh38]
Chr7:150655494..150655508 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2766del (p.Pro923fs) deletion Cardiovascular phenotype [RCV000586952]|not provided [RCV001591352] Chr7:150947805 [GRCh38]
Chr7:150644893 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.805_808delinsAGT (p.Arg269fs) indel Cardiovascular phenotype [RCV000620812] Chr7:150958167..150958170 [GRCh38]
Chr7:150655255..150655258 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs) deletion Cardiovascular phenotype [RCV000620830]|Long QT syndrome [RCV002531769] Chr7:150948997..150949006 [GRCh38]
Chr7:150646085..150646094 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2680_2686del (p.Arg894fs) deletion Cardiovascular phenotype [RCV000620946] Chr7:150948450..150948456 [GRCh38]
Chr7:150645538..150645544 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1056C>T (p.Pro352=) single nucleotide variant Cardiac arrhythmia [RCV001841794]|Cardiovascular phenotype [RCV000621448]|Long QT syndrome [RCV000631794]|not specified [RCV001256911] Chr7:150957363 [GRCh38]
Chr7:150654451 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2584C>T (p.Leu862=) single nucleotide variant Cardiovascular phenotype [RCV000621530]|Long QT syndrome [RCV002060667] Chr7:150948864 [GRCh38]
Chr7:150645952 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter) single nucleotide variant Cardiovascular phenotype [RCV000621866]|Long QT syndrome [RCV001389496] Chr7:150947014 [GRCh38]
Chr7:150644102 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3099del (p.Arg1035fs) deletion Long QT syndrome [RCV003532092]|not provided [RCV000414670] Chr7:150947381 [GRCh38]
Chr7:150644469 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3200dup (p.Gln1068fs) duplication not provided [RCV000414739] Chr7:150947006..150947007 [GRCh38]
Chr7:150644094..150644095 [GRCh37]
Chr7:7q36.1		 pathogenic
NC_000007.14:g.(?_150959562)_(150959746_?)del deletion Long QT syndrome [RCV000815901] Chr7:150959562..150959746 [GRCh38]
Chr7:150656650..150656834 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.872T>G (p.Met291Arg) single nucleotide variant Long QT syndrome 2 [RCV000415641]|Long QT syndrome [RCV000463158]|Short QT syndrome type 1 [RCV000415675]|Short QT syndrome type 1 [RCV002481291]|not provided [RCV001289019] Chr7:150958103 [GRCh38]
Chr7:150655191 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1128+1865C>T single nucleotide variant Cardiac arrhythmia [RCV001841280]|Long QT syndrome 2 [RCV000415681]|Short QT syndrome type 1 [RCV000415725]|not provided [RCV000998944]|not specified [RCV001700108] Chr7:150955426 [GRCh38]
Chr7:150652514 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance
NM_000238.4(KCNH2):c.2343C>T (p.Phe781=) single nucleotide variant Long QT syndrome [RCV000559564] Chr7:150950223 [GRCh38]
Chr7:150647311 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2705del (p.Pro902fs) deletion Cardiovascular phenotype [RCV002424749]|Long QT syndrome 2 [RCV000735251] Chr7:150947866 [GRCh38]
Chr7:150644954 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1394T>C (p.Val465Ala) single nucleotide variant Cardiac arrhythmia [RCV000415129] Chr7:150952588 [GRCh38]
Chr7:150649676 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.777C>T (p.Asp259=) single nucleotide variant Cardiovascular phenotype [RCV002413448]|KCNH2-related condition [RCV003900119]|Long QT syndrome [RCV000534536] Chr7:150958198 [GRCh38]
Chr7:150655286 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3469C>T (p.Pro1157Ser) single nucleotide variant Cardiac arrhythmia [RCV001841448]|Cardiovascular phenotype [RCV003302782]|Long QT syndrome 2 [RCV002470904]|Long QT syndrome [RCV000538863] Chr7:150945376 [GRCh38]
Chr7:150642464 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3104G>A (p.Arg1035Gln) single nucleotide variant Cardiac arrhythmia [RCV001841440]|Cardiovascular phenotype [RCV002323919]|Long QT syndrome [RCV000535145]|not provided [RCV002508222] Chr7:150947376 [GRCh38]
Chr7:150644464 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.14:g.(?_150974691)_(150977933_?)del deletion Long QT syndrome [RCV000557837] Chr7:150974691..150977933 [GRCh38]
Chr7:150671779..150675021 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3172G>A (p.Ala1058Thr) single nucleotide variant Long QT syndrome [RCV000560315] Chr7:150947035 [GRCh38]
Chr7:150644123 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1664G>A (p.Cys555Tyr) single nucleotide variant Long QT syndrome [RCV002523917]|not provided [RCV000412811] Chr7:150951729 [GRCh38]
Chr7:150648817 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.121G>C (p.Val41Leu) single nucleotide variant not provided [RCV000412825] Chr7:150974897 [GRCh38]
Chr7:150671985 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs) duplication Long QT syndrome [RCV003766147]|not provided [RCV000412915] Chr7:150947372..150947373 [GRCh38]
Chr7:150644460..150644461 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.3301C>T (p.Pro1101Ser) single nucleotide variant Cardiac arrhythmia [RCV001841443]|Long QT syndrome [RCV000541811] Chr7:150946906 [GRCh38]
Chr7:150643994 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter) single nucleotide variant Cardiovascular phenotype [RCV002348126]|Long QT syndrome [RCV000686182]|not provided [RCV000413351] Chr7:150958430 [GRCh38]
Chr7:150655518 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1325C>T (p.Ala442Val) single nucleotide variant Long QT syndrome [RCV000536145]|Short QT syndrome type 1 [RCV000768002] Chr7:150952657 [GRCh38]
Chr7:150649745 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.307+312G>C single nucleotide variant not provided [RCV001571039] Chr7:150974399 [GRCh38]
Chr7:150671487 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3007G>A (p.Asp1003Asn) single nucleotide variant Cardiovascular phenotype [RCV002436239]|Long QT syndrome [RCV000631725]|not specified [RCV000413178] Chr7:150947473 [GRCh38]
Chr7:150644561 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2398+1G>T single nucleotide variant Long QT syndrome 2 [RCV003322603]|Long QT syndrome [RCV000473168]|not provided [RCV000413790] Chr7:150950167 [GRCh38]
Chr7:150647255 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.77-5C>A single nucleotide variant Cardiac arrhythmia [RCV001841449]|Long QT syndrome [RCV000558920] Chr7:150974946 [GRCh38]
Chr7:150672034 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.3100_3106dup (p.Gly1036fs) duplication Long QT syndrome [RCV000558952] Chr7:150947373..150947374 [GRCh38]
Chr7:150644461..150644462 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2379C>T (p.Asp793=) single nucleotide variant Cardiac arrhythmia [RCV001841436]|Cardiovascular phenotype [RCV003302781]|Long QT syndrome [RCV000536476] Chr7:150950187 [GRCh38]
Chr7:150647275 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3152+2T>C single nucleotide variant not provided [RCV000413963] Chr7:150947326 [GRCh38]
Chr7:150644414 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.115T>C (p.Cys39Arg) single nucleotide variant Cardiovascular phenotype [RCV002358441]|KCNH2-related condition [RCV003409768]|Long QT syndrome [RCV000559174]|Short QT syndrome type 1 [RCV002506294]|not provided [RCV003129887] Chr7:150974903 [GRCh38]
Chr7:150671991 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3152+1G>T single nucleotide variant Long QT syndrome [RCV001378550]|not provided [RCV000414266] Chr7:150947327 [GRCh38]
Chr7:150644415 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_000238.4(KCNH2):c.1652T>C (p.Phe551Ser) single nucleotide variant Cardiovascular phenotype [RCV003278805]|Long QT syndrome [RCV001298006]|not provided [RCV000423709] Chr7:150951741 [GRCh38]
Chr7:150648829 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1602C>T (p.Arg534=) single nucleotide variant Cardiac arrhythmia [RCV001841326]|Cardiovascular phenotype [RCV002402183]|Long QT syndrome [RCV000554800]|not specified [RCV000437715] Chr7:150951791 [GRCh38]
Chr7:150648879 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1500C>A (p.Ile500=) single nucleotide variant Cardiac arrhythmia [RCV001841327]|Cardiovascular phenotype [RCV002393020]|Long QT syndrome [RCV000703054]|Short QT syndrome type 1 [RCV002502563]|not provided [RCV001704443] Chr7:150952482 [GRCh38]
Chr7:150649570 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance
NM_000238.4(KCNH2):c.960G>A (p.Ser320=) single nucleotide variant Cardiac arrhythmia [RCV001841324]|Cardiovascular phenotype [RCV002374678]|Long QT syndrome [RCV001244190]|not provided [RCV001721283] Chr7:150957459 [GRCh38]
Chr7:150654547 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1320G>A (p.Pro440=) single nucleotide variant Cardiac arrhythmia [RCV001841283]|Cardiovascular phenotype [RCV002379297]|Long QT syndrome [RCV000868874]|not specified [RCV000427415] Chr7:150952662 [GRCh38]
Chr7:150649750 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.*17G>C single nucleotide variant not specified [RCV000417792] Chr7:150945348 [GRCh38]
Chr7:150642436 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1437C>T (p.Asn479=) single nucleotide variant Cardiac arrhythmia [RCV001841284]|Cardiovascular phenotype [RCV002392954]|KCNH2-related condition [RCV003912619]|Long QT syndrome [RCV000875183]|not specified [RCV000438076] Chr7:150952545 [GRCh38]
Chr7:150649633 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1945+20G>A single nucleotide variant Long QT syndrome [RCV002059863]|not specified [RCV000424390] Chr7:150951428 [GRCh38]
Chr7:150648516 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2965+15G>A single nucleotide variant Long QT syndrome 2 [RCV001159568]|Long QT syndrome [RCV002058900]|not specified [RCV000431632] Chr7:150947591 [GRCh38]
Chr7:150644679 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.276C>T (p.Arg92=) single nucleotide variant Cardiac arrhythmia [RCV001841333]|Long QT syndrome [RCV000934854]|not provided [RCV001724001]|not specified [RCV000434882] Chr7:150974742 [GRCh38]
Chr7:150671830 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1775A>G single nucleotide variant not specified [RCV000441973] Chr7:150955516 [GRCh38]
Chr7:150652604 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3366G>A (p.Pro1122=) single nucleotide variant Cardiac arrhythmia [RCV001841288]|Cardiovascular phenotype [RCV002450963]|Long QT syndrome [RCV001087888]|not provided [RCV000590759]|not specified [RCV000442311] Chr7:150945479 [GRCh38]
Chr7:150642567 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.-28G>A single nucleotide variant not provided [RCV001721313] Chr7:150977941 [GRCh38]
Chr7:150675029 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2692+5G>T single nucleotide variant not provided [RCV000418102] Chr7:150948439 [GRCh38]
Chr7:150645527 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.917-18C>T single nucleotide variant Long QT syndrome [RCV002521566]|not specified [RCV000431936] Chr7:150957520 [GRCh38]
Chr7:150654608 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3108C>T (p.Gly1036=) single nucleotide variant Cardiac arrhythmia [RCV001841320]|Long QT syndrome [RCV000631609]|not specified [RCV000439125] Chr7:150947372 [GRCh38]
Chr7:150644460 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2296G>T (p.Gly766Trp) single nucleotide variant not provided [RCV000439372] Chr7:150950270 [GRCh38]
Chr7:150647358 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3027C>G (p.Tyr1009Ter) single nucleotide variant Long QT syndrome [RCV000804954]|not provided [RCV000423718] Chr7:150947453 [GRCh38]
Chr7:150644541 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.916+8C>A single nucleotide variant not specified [RCV000429200] Chr7:150958051 [GRCh38]
Chr7:150655139 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1635C>T (p.Tyr545=) single nucleotide variant Cardiac arrhythmia [RCV001841317]|Cardiovascular phenotype [RCV002402150]|Long QT syndrome 2 [RCV001159680]|Long QT syndrome [RCV001087028]|not provided [RCV000590102] Chr7:150951758 [GRCh38]
Chr7:150648846 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance
NM_000238.4(KCNH2):c.598C>T (p.Leu200=) single nucleotide variant Cardiovascular phenotype [RCV002356606]|Long QT syndrome [RCV002059931]|not specified [RCV000443121] Chr7:150958377 [GRCh38]
Chr7:150655465 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3153-9C>T single nucleotide variant Long QT syndrome [RCV001435365]|not specified [RCV000443230] Chr7:150947063 [GRCh38]
Chr7:150644151 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1973A>G (p.Asn658Ser) single nucleotide variant Long QT syndrome [RCV000466780]|not provided [RCV000426599] Chr7:150951093 [GRCh38]
Chr7:150648181 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.308-2A>G single nucleotide variant Long QT syndrome [RCV000460573]|not provided [RCV000427208] Chr7:150959738 [GRCh38]
Chr7:150656826 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.783G>A (p.Ser261=) single nucleotide variant Cardiovascular phenotype [RCV002411293]|Long QT syndrome 2 [RCV001164705]|Long QT syndrome [RCV001515846]|not provided [RCV002292547]|not specified [RCV000422237] Chr7:150958192 [GRCh38]
Chr7:150655280 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1608G>A (p.Ala536=) single nucleotide variant Cardiac arrhythmia [RCV001841305]|Cardiovascular phenotype [RCV002392964]|Long QT syndrome [RCV001494684]|not provided [RCV000530952] Chr7:150951785 [GRCh38]
Chr7:150648873 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2730G>A (p.Pro910=) single nucleotide variant Cardiac arrhythmia [RCV001841287]|Cardiovascular phenotype [RCV002436247]|Long QT syndrome 2 [RCV001160954]|Long QT syndrome [RCV000460101]|not provided [RCV001705573] Chr7:150947841 [GRCh38]
Chr7:150644929 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.3459C>T (p.His1153=) single nucleotide variant Cardiac arrhythmia [RCV001841447]|Cardiovascular phenotype [RCV003343895]|Long QT syndrome [RCV000530848]|not provided [RCV003424091] Chr7:150945386 [GRCh38]
Chr7:150642474 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.817C>A (p.Arg273=) single nucleotide variant Cardiovascular phenotype [RCV002429355]|Long QT syndrome [RCV000551700]|not specified [RCV000432925] Chr7:150958158 [GRCh38]
Chr7:150655246 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance
NM_000238.4(KCNH2):c.387C>T (p.Phe129=) single nucleotide variant Cardiac arrhythmia [RCV001841315]|Cardiovascular phenotype [RCV002365502]|Long QT syndrome [RCV001475574]|not specified [RCV000440020] Chr7:150959657 [GRCh38]
Chr7:150656745 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2808C>T (p.Ser936=) single nucleotide variant Long QT syndrome [RCV002524768]|not specified [RCV000440038] Chr7:150947763 [GRCh38]
Chr7:150644851 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1810C>T single nucleotide variant Cardiac arrhythmia [RCV001841309]|Cardiovascular phenotype [RCV002446661]|Long QT syndrome [RCV001048076]|Short QT syndrome type 1 [RCV000763172]|not provided [RCV000431050] Chr7:150955481 [GRCh38]
Chr7:150652569 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|likely benign|uncertain significance
NM_000238.4(KCNH2):c.1800C>T (p.Ser600=) single nucleotide variant Cardiac arrhythmia [RCV001841285]|Cardiovascular phenotype [RCV000618979]|Long QT syndrome [RCV000459065]|not specified [RCV000429846] Chr7:150951593 [GRCh38]
Chr7:150648681 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1715G>C (p.Gly572Ala) single nucleotide variant not provided [RCV000433656] Chr7:150951678 [GRCh38]
Chr7:150648766 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.1419C>T (p.Thr473=) single nucleotide variant not specified [RCV000426403] Chr7:150952563 [GRCh38]
Chr7:150649651 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1158T>C (p.Pro386=) single nucleotide variant Cardiac arrhythmia [RCV001841282]|Long QT syndrome [RCV000466272]|not specified [RCV000444165] Chr7:150952824 [GRCh38]
Chr7:150649912 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1929C>A (p.Cys643Ter) single nucleotide variant not provided [RCV000434037] Chr7:150951464 [GRCh38]
Chr7:150648552 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1686C>G (p.His562Gln) single nucleotide variant not provided [RCV000434772] Chr7:150951707 [GRCh38]
Chr7:150648795 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.736G>T (p.Gly246Cys) single nucleotide variant Cardiovascular phenotype [RCV002379315]|Long QT syndrome [RCV001851049]|not specified [RCV000433548] Chr7:150958239 [GRCh38]
Chr7:150655327 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1648C>T (p.Leu550=) single nucleotide variant Cardiac arrhythmia [RCV001841334]|Cardiovascular phenotype [RCV003298452]|Long QT syndrome [RCV001410776]|not specified [RCV000437110] Chr7:150951745 [GRCh38]
Chr7:150648833 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3097C>A (p.Arg1033=) single nucleotide variant Long QT syndrome [RCV003647774]|not specified [RCV000430414] Chr7:150947383 [GRCh38]
Chr7:150644471 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2376C>T (p.Gly792=) single nucleotide variant Cardiac arrhythmia [RCV001841286]|Cardiovascular phenotype [RCV000617758]|KCNH2-related condition [RCV003972576]|Long QT syndrome [RCV000465907]|not provided [RCV001702441]|not specified [RCV000430474] Chr7:150950190 [GRCh38]
Chr7:150647278 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1851C>A (p.Phe617Leu) single nucleotide variant not provided [RCV000444524] Chr7:150951542 [GRCh38]
Chr7:150648630 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2398+4T>C single nucleotide variant Cardiac arrhythmia [RCV001841310]|Long QT syndrome [RCV001851044]|not specified [RCV000434005] Chr7:150950164 [GRCh38]
Chr7:150647252 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
GRCh37/hg19 7q35-36.3(chr7:143839360-159138663) copy number loss Abnormal esophagus morphology [RCV000416719] Chr7:143839360..159138663 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3 copy number gain See cases [RCV000447776] Chr7:149261179..159075020 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_000238.4(KCNH2):c.2415del (p.Phe805fs) deletion not provided [RCV000480935] Chr7:150949033 [GRCh38]
Chr7:150646121 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.3255del (p.Pro1086fs) deletion not provided [RCV000481082] Chr7:150946952 [GRCh38]
Chr7:150644040 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2468G>A (p.Arg823Gln) single nucleotide variant Cardiac arrhythmia [RCV001841393]|Long QT syndrome [RCV001348803]|not provided [RCV000481087] Chr7:150948980 [GRCh38]
Chr7:150646068 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NC_000007.14:g.(?_150944956)_(150959736_?)del deletion Long QT syndrome [RCV000460731] Chr7:150944956..150959736 [GRCh38]
Chr7:150642044..150656824 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.879C>T (p.Ala293=) single nucleotide variant Long QT syndrome [RCV000460740] Chr7:150958096 [GRCh38]
Chr7:150655184 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.237C>G (p.Ala79=) single nucleotide variant Cardiac arrhythmia [RCV001841379]|Long QT syndrome 2 [RCV001159791]|Long QT syndrome [RCV000461252] Chr7:150974781 [GRCh38]
Chr7:150671869 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2693-5C>T single nucleotide variant Cardiac arrhythmia [RCV001841369]|Long QT syndrome [RCV000461379] Chr7:150947883 [GRCh38]
Chr7:150644971 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter) single nucleotide variant Cardiovascular phenotype [RCV003168953]|Long QT syndrome [RCV000631681]|not provided [RCV000481174] Chr7:150950983 [GRCh38]
Chr7:150648071 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.331_337dup (p.Val113fs) duplication not provided [RCV000481327] Chr7:150959706..150959707 [GRCh38]
Chr7:150656794..150656795 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2364_2365dup (p.Ile789fs) microsatellite Long QT syndrome [RCV000461875] Chr7:150950200..150950201 [GRCh38]
Chr7:150647288..150647289 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2577C>A (p.Thr859=) single nucleotide variant Long QT syndrome [RCV001402334] Chr7:150948871 [GRCh38]
Chr7:150645959 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2769G>C (p.Pro923=) single nucleotide variant Long QT syndrome [RCV001416990] Chr7:150947802 [GRCh38]
Chr7:150644890 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2887_2888delinsA (p.Pro963fs) indel not provided [RCV000481746] Chr7:150947683..150947684 [GRCh38]
Chr7:150644771..150644772 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His) single nucleotide variant Cardiac arrhythmia [RCV001841339]|Cardiovascular phenotype [RCV003168715]|Long QT syndrome 2 [RCV000988002]|Long QT syndrome [RCV000691808]|Short QT syndrome type 1 [RCV002488993]|not provided [RCV001575900]|not specified [RCV000454411] Chr7:150948482 [GRCh38]
Chr7:150645570 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3228C>T (p.Pro1076=) single nucleotide variant Cardiac arrhythmia [RCV001841374]|Cardiovascular phenotype [RCV000620136]|KCNH2-related condition [RCV003912824]|Long QT syndrome 2 [RCV001164501]|Long QT syndrome [RCV000463490]|not provided [RCV001712424] Chr7:150946979 [GRCh38]
Chr7:150644067 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.731C>T (p.Ala244Val) single nucleotide variant Long QT syndrome [RCV000464136]|not provided [RCV003139651] Chr7:150958244 [GRCh38]
Chr7:150655332 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1341C>T (p.Tyr447=) single nucleotide variant Cardiac arrhythmia [RCV001841380]|Cardiovascular phenotype [RCV002383860]|Long QT syndrome 2 [RCV001161090]|Long QT syndrome [RCV000464544]|Short QT syndrome type 1 [RCV000768001] Chr7:150952641 [GRCh38]
Chr7:150649729 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.-53CCGGG[4] microsatellite not specified [RCV000483878] Chr7:150977951..150977952 [GRCh38]
Chr7:150675039..150675040 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1726C>T (p.Gln576Ter) single nucleotide variant not provided [RCV000482091] Chr7:150951667 [GRCh38]
Chr7:150648755 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1567C>A (p.Leu523Met) single nucleotide variant Long QT syndrome [RCV000464966] Chr7:150951826 [GRCh38]
Chr7:150648914 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+1883C>G single nucleotide variant Long QT syndrome [RCV001466178] Chr7:150955408 [GRCh38]
Chr7:150652496 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.77-3_77-2dup duplication Long QT syndrome [RCV000465424] Chr7:150974942..150974943 [GRCh38]
Chr7:150672030..150672031 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1129-6G>T single nucleotide variant Cardiac arrhythmia [RCV001841377]|Long QT syndrome [RCV000466817] Chr7:150952859 [GRCh38]
Chr7:150649947 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1963A>G (p.Ile655Val) single nucleotide variant Long QT syndrome [RCV000466936] Chr7:150951103 [GRCh38]
Chr7:150648191 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2892del (p.Gly965fs) deletion Cardiac arrhythmia [RCV001841394]|not provided [RCV000482977] Chr7:150947679 [GRCh38]
Chr7:150644767 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.472+1G>A single nucleotide variant Long QT syndrome [RCV001379769]|not provided [RCV000483249] Chr7:150959571 [GRCh38]
Chr7:150656659 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2967C>A (p.Gly989=) single nucleotide variant Long QT syndrome [RCV000467792] Chr7:150947513 [GRCh38]
Chr7:150644601 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.355G>C (p.Asp119His) single nucleotide variant Cardiovascular phenotype [RCV002339124]|Long QT syndrome [RCV000467908]|Short QT syndrome type 1 [RCV003224285]|not provided [RCV001591065] Chr7:150959689 [GRCh38]
Chr7:150656777 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.3153-4C>T single nucleotide variant Cardiac arrhythmia [RCV001841370]|Cardiovascular phenotype [RCV000618315]|Long QT syndrome [RCV001080677]|Short QT syndrome type 1 [RCV002489097]|not provided [RCV000712078] Chr7:150947058 [GRCh38]
Chr7:150644146 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.720G>A (p.Pro240=) single nucleotide variant Cardiovascular phenotype [RCV000621469]|Long QT syndrome [RCV001402781] Chr7:150958255 [GRCh38]
Chr7:150655343 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1980G>A (p.Ser660=) single nucleotide variant Cardiac arrhythmia [RCV001841372]|Cardiovascular phenotype [RCV002418444]|Long QT syndrome [RCV001087372] Chr7:150951086 [GRCh38]
Chr7:150648174 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3163C>T (p.Arg1055Trp) single nucleotide variant Long QT syndrome 2 [RCV001159565]|Long QT syndrome [RCV000468369] Chr7:150947044 [GRCh38]
Chr7:150644132 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+1820_1128+1821del deletion Cardiac arrhythmia [RCV001841396]|not provided [RCV000483726] Chr7:150955470..150955471 [GRCh38]
Chr7:150652558..150652559 [GRCh37]
Chr7:7q36.1		 likely pathogenic|likely benign
NM_000238.4(KCNH2):c.1128+1895G>C single nucleotide variant Long QT syndrome [RCV000468867] Chr7:150955396 [GRCh38]
Chr7:150652484 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2312A>G (p.His771Arg) single nucleotide variant Cardiovascular phenotype [RCV002446782]|Long QT syndrome [RCV000469290] Chr7:150950254 [GRCh38]
Chr7:150647342 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1695del (p.Cys566fs) deletion Long QT syndrome [RCV000470097] Chr7:150951698 [GRCh38]
Chr7:150648786 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter) single nucleotide variant Long QT syndrome [RCV001239959]|not provided [RCV000484322] Chr7:150974854 [GRCh38]
Chr7:150671942 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.1881C>T (p.Phe627=) single nucleotide variant Cardiac arrhythmia [RCV001841375]|Cardiovascular phenotype [RCV002411527]|Long QT syndrome [RCV000470569]|not provided [RCV001613297] Chr7:150951512 [GRCh38]
Chr7:150648600 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.351C>T (p.Asn117=) single nucleotide variant Cardiac arrhythmia [RCV001841382]|Cardiovascular phenotype [RCV002451155]|Long QT syndrome [RCV000472238]|not provided [RCV001712314] Chr7:150959693 [GRCh38]
Chr7:150656781 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2221A>C (p.Lys741Gln) single nucleotide variant Cardiac arrhythmia [RCV001843192]|Long QT syndrome [RCV003770033] Chr7:150950345 [GRCh38]
Chr7:150647433 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.432C>T (p.Asp144=) single nucleotide variant Cardiac arrhythmia [RCV001841381]|Cardiovascular phenotype [RCV002329095]|KCNH2-related condition [RCV003960049]|Long QT syndrome [RCV000473009]|not specified [RCV000602952] Chr7:150959612 [GRCh38]
Chr7:150656700 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1929C>T (p.Cys643=) single nucleotide variant Long QT syndrome [RCV001484185] Chr7:150951464 [GRCh38]
Chr7:150648552 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.395_456del (p.Val132fs) deletion not provided [RCV000484926] Chr7:150959588..150959649 [GRCh38]
Chr7:150656676..150656737 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.545C>G (p.Ser182Trp) single nucleotide variant Long QT syndrome [RCV000473446]|not provided [RCV000786145] Chr7:150958430 [GRCh38]
Chr7:150655518 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2778G>T (p.Pro926=) single nucleotide variant Long QT syndrome [RCV001396164] Chr7:150947793 [GRCh38]
Chr7:150644881 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.930A>G (p.Pro310=) single nucleotide variant Cardiac arrhythmia [RCV001841378]|Cardiovascular phenotype [RCV003343847]|Long QT syndrome 2 [RCV001162646]|Long QT syndrome [RCV000474164]|not provided [RCV001653835] Chr7:150957489 [GRCh38]
Chr7:150654577 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance
NC_000007.14:g.(?_150944956)_(150978314_?)del deletion Long QT syndrome [RCV000474293] Chr7:150944956..150978314 [GRCh38]
Chr7:150642044..150675402 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2398+71del deletion not specified [RCV000455728] Chr7:150950097 [GRCh38]
Chr7:150647185 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg) microsatellite Cardiac arrhythmia [RCV001841340]|Cardiovascular phenotype [RCV002323669]|Long QT syndrome [RCV000705444]|Short QT syndrome type 1 [RCV002502597]|not provided [RCV001541166]|not specified [RCV000455744] Chr7:150947379..150947380 [GRCh38]
Chr7:150644467..150644468 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3112G>T (p.Val1038Leu) single nucleotide variant Cardiac arrhythmia [RCV001841349]|Cardiovascular phenotype [RCV002323687]|Long QT syndrome [RCV000474982] Chr7:150947368 [GRCh38]
Chr7:150644456 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3099_3109dup (p.Asp1037fs) duplication Long QT syndrome [RCV000475107] Chr7:150947370..150947371 [GRCh38]
Chr7:150644458..150644459 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1128+1792C>T single nucleotide variant Long QT syndrome [RCV000475454] Chr7:150955499 [GRCh38]
Chr7:150652587 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1374C>T (p.Ile458=) single nucleotide variant Cardiac arrhythmia [RCV001841373]|Cardiovascular phenotype [RCV003168881]|Long QT syndrome [RCV000475529] Chr7:150952608 [GRCh38]
Chr7:150649696 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.278A>G (p.Lys93Arg) single nucleotide variant Cardiac arrhythmia [RCV001841371]|Cardiovascular phenotype [RCV000620636]|Long QT syndrome [RCV000475594]|not provided [RCV001721509] Chr7:150974740 [GRCh38]
Chr7:150671828 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2470del (p.Ala824fs) deletion Long QT syndrome [RCV000807642]|not provided [RCV000478641] Chr7:150948978 [GRCh38]
Chr7:150646066 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs) deletion Cardiac arrhythmia [RCV001841397]|Long QT syndrome [RCV001054801]|not provided [RCV000478766] Chr7:150947368..150947381 [GRCh38]
Chr7:150644456..150644469 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2091C>T (p.Leu697=) single nucleotide variant Long QT syndrome [RCV001087323]|not provided [RCV000842739] Chr7:150950975 [GRCh38]
Chr7:150648063 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.402del (p.Lys135fs) deletion Long QT syndrome [RCV000477231]|not provided [RCV003736775] Chr7:150959642 [GRCh38]
Chr7:150656730 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2930G>T (p.Cys977Phe) single nucleotide variant Long QT syndrome [RCV000477290] Chr7:150947641 [GRCh38]
Chr7:150644729 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.451C>G (p.Pro151Ala) single nucleotide variant Cardiac arrhythmia [RCV001841350]|Long QT syndrome [RCV000477607]|Short QT syndrome type 1 [RCV000765947] Chr7:150959593 [GRCh38]
Chr7:150656681 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1883del (p.Gly628fs) deletion not provided [RCV000478962] Chr7:150951510 [GRCh38]
Chr7:150648598 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1479C>T (p.Tyr493=) single nucleotide variant Long QT syndrome [RCV000554089] Chr7:150952503 [GRCh38]
Chr7:150649591 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1513del (p.Ala505fs) deletion Long QT syndrome [RCV001387858]|not provided [RCV000486763] Chr7:150952469 [GRCh38]
Chr7:150649557 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2592+3G>A single nucleotide variant Cardiac arrhythmia [RCV001841341]|Long QT syndrome [RCV001856798]|Short QT syndrome type 1 [RCV000768000]|Short QT syndrome type 1 [RCV002467801]|not specified [RCV000456102] Chr7:150948853 [GRCh38]
Chr7:150645941 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1189C>T (p.Arg397Cys) single nucleotide variant Brugada syndrome 1 [RCV003328583]|Cardiac arrhythmia [RCV001841347]|Cardiovascular phenotype [RCV000619671]|Long QT syndrome [RCV000456992] Chr7:150952793 [GRCh38]
Chr7:150649881 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2000dup (p.Tyr667Ter) duplication Long QT syndrome [RCV000457192] Chr7:150951065..150951066 [GRCh38]
Chr7:150648153..150648154 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2952dup (p.Asn985fs) duplication not provided [RCV000480019] Chr7:150947618..150947619 [GRCh38]
Chr7:150644706..150644707 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2127_2128del (p.Asn709fs) deletion not provided [RCV000487074] Chr7:150950938..150950939 [GRCh38]
Chr7:150648026..150648027 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.1920C>G (p.Phe640Leu) single nucleotide variant not provided [RCV000487077] Chr7:150951473 [GRCh38]
Chr7:150648561 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3060dup (p.Ser1021fs) duplication not provided [RCV000487260] Chr7:150947419..150947420 [GRCh38]
Chr7:150644507..150644508 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.1819A>T (p.Ile607Phe) single nucleotide variant not provided [RCV000487402] Chr7:150951574 [GRCh38]
Chr7:150648662 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1558-6C>T single nucleotide variant Cardiac arrhythmia [RCV001841376]|Long QT syndrome [RCV000457491]|not provided [RCV001540273] Chr7:150951841 [GRCh38]
Chr7:150648929 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2245G>T (p.Gly749Cys) single nucleotide variant Long QT syndrome [RCV000457671] Chr7:150950321 [GRCh38]
Chr7:150647409 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3107_3127del (p.Gly1036_Leu1042del) deletion Long QT syndrome [RCV000458341] Chr7:150947353..150947373 [GRCh38]
Chr7:150644441..150644461 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1048del (p.Ala350fs) deletion not provided [RCV000480550] Chr7:150957371 [GRCh38]
Chr7:150654459 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.950A>G (p.Asn317Ser) single nucleotide variant Cardiac arrhythmia [RCV001841348]|Long QT syndrome [RCV000458966]|Short QT syndrome type 1 [RCV000765944] Chr7:150957469 [GRCh38]
Chr7:150654557 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.617_618delinsTT (p.Ser206Ile) indel Cardiovascular phenotype [RCV003278807]|Long QT syndrome [RCV000459073]|Short QT syndrome type 1 [RCV002489013]|not specified [RCV000599243] Chr7:150958357..150958358 [GRCh38]
Chr7:150655445..150655446 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.36C>T (p.Asn12=) single nucleotide variant Cardiac arrhythmia [RCV001841368]|Cardiovascular phenotype [RCV002356724]|Long QT syndrome [RCV000459630] Chr7:150977878 [GRCh38]
Chr7:150674966 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2537C>T (p.Pro846Leu) single nucleotide variant Long QT syndrome [RCV000459672] Chr7:150948911 [GRCh38]
Chr7:150645999 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_000238.4(KCNH2):c.778G>C (p.Ala260Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV000497547]|Long QT syndrome [RCV000803330] Chr7:150958197 [GRCh38]
Chr7:150655285 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg) single nucleotide variant Long QT syndrome 2 [RCV000497898] Chr7:150951114 [GRCh38]
Chr7:150648202 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.3124C>G (p.Leu1042Val) single nucleotide variant Hypertrophic cardiomyopathy [RCV000498076] Chr7:150947356 [GRCh38]
Chr7:150644444 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2038del (p.Val680fs) deletion Long QT syndrome 2 [RCV000498932] Chr7:150951028 [GRCh38]
Chr7:150648116 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4 copy number gain See cases [RCV000511618] Chr7:148189771..150867270 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_000238.4(KCNH2):c.1557+1G>C single nucleotide variant Cardiovascular phenotype [RCV003343878]|Long QT syndrome 2 [RCV002470890]|Long QT syndrome [RCV003532150]|not specified [RCV000506480] Chr7:150952424 [GRCh38]
Chr7:150649512 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2626G>T (p.Glu876Ter) single nucleotide variant Long QT syndrome [RCV001385332]|not provided [RCV000578653] Chr7:150948510 [GRCh38]
Chr7:150645598 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs) duplication Long QT syndrome 2 [RCV000495854]|Long QT syndrome [RCV001856987] Chr7:150948456..150948457 [GRCh38]
Chr7:150645544..150645545 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs) deletion Long QT syndrome 2 [RCV000495991] Chr7:150947632..150947636 [GRCh38]
Chr7:150644720..150644724 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:150553743-159119707)x3 copy number gain See cases [RCV000510762] Chr7:150553743..159119707 [GRCh37]
Chr7:7q36.1-36.3		 likely pathogenic
NM_000238.4(KCNH2):c.2361C>T (p.Ile787=) single nucleotide variant Cardiac arrhythmia [RCV001841435]|Cardiovascular phenotype [RCV002456055]|Long QT syndrome [RCV000560860]|not provided [RCV001613340] Chr7:150950205 [GRCh38]
Chr7:150647293 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2616C>T (p.Pro872=) single nucleotide variant Cardiac arrhythmia [RCV001841437]|KCNH2-related condition [RCV003915489]|Long QT syndrome [RCV001085329]|not provided [RCV000587758] Chr7:150948520 [GRCh38]
Chr7:150645608 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter) single nucleotide variant Cardiovascular phenotype [RCV000618350] Chr7:150974856 [GRCh38]
Chr7:150671944 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1707C>G (p.Tyr569Ter) single nucleotide variant not provided [RCV000578684] Chr7:150951686 [GRCh38]
Chr7:150648774 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.699G>A (p.Ala233=) single nucleotide variant Long QT syndrome [RCV000557580] Chr7:150958276 [GRCh38]
Chr7:150655364 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.307_307+1delinsTT indel Cardiovascular phenotype [RCV000619294]|Long QT syndrome [RCV001860384] Chr7:150974710..150974711 [GRCh38]
Chr7:150671798..150671799 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2387T>G (p.Val796Gly) single nucleotide variant Cardiovascular phenotype [RCV000620144]|Long QT syndrome [RCV003532196] Chr7:150950179 [GRCh38]
Chr7:150647267 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3251C>T (p.Pro1084Leu) single nucleotide variant Cardiac arrhythmia [RCV001841442]|Cardiovascular phenotype [RCV000620231]|Long QT syndrome [RCV000535906]|Short QT syndrome type 1 [RCV003335453] Chr7:150946956 [GRCh38]
Chr7:150644044 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1842G>A (p.Ala614=) single nucleotide variant Cardiac arrhythmia [RCV001841432]|Cardiovascular phenotype [RCV000619829]|Long QT syndrome [RCV000540086] Chr7:150951551 [GRCh38]
Chr7:150648639 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1888del (p.Val630fs) deletion Cardiovascular phenotype [RCV000620578] Chr7:150951505 [GRCh38]
Chr7:150648593 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2037G>A (p.Arg679=) single nucleotide variant Cardiovascular phenotype [RCV000621547]|Long QT syndrome [RCV002066949] Chr7:150951029 [GRCh38]
Chr7:150648117 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs) indel Long QT syndrome [RCV000631579]|not specified [RCV001192539] Chr7:150947384..150947393 [GRCh38]
Chr7:150644472..150644481 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1689G>A (p.Trp563Ter) single nucleotide variant Long QT syndrome [RCV000631644]|not provided [RCV000760331] Chr7:150951704 [GRCh38]
Chr7:150648792 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1923C>T (p.Ser641=) single nucleotide variant Cardiac arrhythmia [RCV001841433]|Cardiovascular phenotype [RCV000621465]|Long QT syndrome [RCV000540880] Chr7:150951470 [GRCh38]
Chr7:150648558 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.973G>A (p.Val325Met) single nucleotide variant Long QT syndrome [RCV000631590] Chr7:150957446 [GRCh38]
Chr7:150654534 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+1849G>A single nucleotide variant Long QT syndrome [RCV000631560] Chr7:150955442 [GRCh38]
Chr7:150652530 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2734_2738del (p.Arg912fs) microsatellite Cardiovascular phenotype [RCV002438652]|Long QT syndrome [RCV000631602] Chr7:150947833..150947837 [GRCh38]
Chr7:150644921..150644925 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3296C>T (p.Pro1099Leu) single nucleotide variant Long QT syndrome [RCV000631619] Chr7:150946911 [GRCh38]
Chr7:150643999 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2145+10C>G single nucleotide variant Long QT syndrome [RCV000631753] Chr7:150950911 [GRCh38]
Chr7:150647999 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1965C>A (p.Ile655=) single nucleotide variant Long QT syndrome [RCV000631851] Chr7:150951101 [GRCh38]
Chr7:150648189 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3103_3120delinsGGGTCGGCGG (p.Arg1035fs) indel not provided [RCV003312700] Chr7:150947360..150947377 [GRCh38]
Chr7:150644448..150644465 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1372A>T (p.Ile458Phe) single nucleotide variant Long QT syndrome [RCV000541352] Chr7:150952610 [GRCh38]
Chr7:150649698 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1081C>T (p.Pro361Ser) single nucleotide variant Long QT syndrome [RCV000533084] Chr7:150957338 [GRCh38]
Chr7:150654426 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1680C>T (p.Ile560=) single nucleotide variant Cardiac arrhythmia [RCV001841429]|Cardiovascular phenotype [RCV000617241]|Long QT syndrome [RCV000555558]|not provided [RCV001597158] Chr7:150951713 [GRCh38]
Chr7:150648801 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.725_726delinsAA (p.Arg242Gln) indel Long QT syndrome [RCV000533770] Chr7:150958249..150958250 [GRCh38]
Chr7:150655337..150655338 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.423G>A (p.Pro141=) single nucleotide variant Cardiac arrhythmia [RCV001841814]|Cardiovascular phenotype [RCV002331110]|Long QT syndrome [RCV000631570] Chr7:150959621 [GRCh38]
Chr7:150656709 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter) duplication Long QT syndrome [RCV000631592] Chr7:150977847..150977848 [GRCh38]
Chr7:150674935..150674936 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2901G>A (p.Pro967=) single nucleotide variant Cardiac arrhythmia [RCV001841820]|Cardiovascular phenotype [RCV002438656]|Long QT syndrome [RCV000631751]|Short QT syndrome type 1 [RCV002483784]|not provided [RCV001672901] Chr7:150947670 [GRCh38]
Chr7:150644758 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2508C>T (p.Asp836=) single nucleotide variant Cardiac arrhythmia [RCV001841826]|Cardiovascular phenotype [RCV002458001]|Long QT syndrome [RCV000631820] Chr7:150948940 [GRCh38]
Chr7:150646028 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.441C>T (p.His147=) single nucleotide variant Cardiac arrhythmia [RCV001841828]|Cardiovascular phenotype [RCV002331114]|Long QT syndrome [RCV000631832] Chr7:150959603 [GRCh38]
Chr7:150656691 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.177G>A (p.Val59=) single nucleotide variant Long QT syndrome [RCV000631853] Chr7:150974841 [GRCh38]
Chr7:150671929 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2889C>T (p.Pro963=) single nucleotide variant Cardiac arrhythmia [RCV001841831]|Long QT syndrome [RCV000631870] Chr7:150947682 [GRCh38]
Chr7:150644770 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1093del (p.Glu365fs) deletion Long QT syndrome 2 [RCV003328080] Chr7:150957326 [GRCh38]
Chr7:150654414 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.925C>T (p.His309Tyr) single nucleotide variant Long QT syndrome [RCV000631566] Chr7:150957494 [GRCh38]
Chr7:150654582 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3229G>A (p.Ala1077Thr) single nucleotide variant Cardiac arrhythmia [RCV001841817]|Cardiovascular phenotype [RCV002325212]|Long QT syndrome [RCV000631666]|not provided [RCV001796148] Chr7:150946978 [GRCh38]
Chr7:150644066 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2171T>C (p.Leu724Pro) single nucleotide variant Long QT syndrome [RCV000631702]|not provided [RCV001756044] Chr7:150950395 [GRCh38]
Chr7:150647483 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.240G>A (p.Ala80=) single nucleotide variant Long QT syndrome [RCV000557111] Chr7:150974778 [GRCh38]
Chr7:150671866 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.603G>A (p.Thr201=) single nucleotide variant Long QT syndrome [RCV000631750] Chr7:150958372 [GRCh38]
Chr7:150655460 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.927C>T (p.His309=) single nucleotide variant Long QT syndrome [RCV000631764] Chr7:150957492 [GRCh38]
Chr7:150654580 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1893T>G (p.Ser631=) single nucleotide variant Long QT syndrome [RCV000631814] Chr7:150951500 [GRCh38]
Chr7:150648588 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.697G>T (p.Ala233Ser) single nucleotide variant Cardiovascular phenotype [RCV002360513]|Long QT syndrome [RCV001078600]|not provided [RCV000712083] Chr7:150958278 [GRCh38]
Chr7:150655366 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1826A>C (p.Asp609Ala) single nucleotide variant Long QT syndrome [RCV000534743] Chr7:150951567 [GRCh38]
Chr7:150648655 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1551T>C (p.Ser517=) single nucleotide variant Cardiac arrhythmia [RCV001841428]|Long QT syndrome [RCV000542193] Chr7:150952431 [GRCh38]
Chr7:150649519 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.811_812insA (p.Arg271fs) insertion Cardiovascular phenotype [RCV000617574] Chr7:150958163..150958164 [GRCh38]
Chr7:150655251..150655252 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1131C>T (p.Val377=) single nucleotide variant Cardiac arrhythmia [RCV001841798]|Cardiovascular phenotype [RCV000617601]|Long QT syndrome [RCV002066944] Chr7:150952851 [GRCh38]
Chr7:150649939 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.206T>A (p.Leu69Gln) single nucleotide variant Long QT syndrome [RCV000624842] Chr7:150974812 [GRCh38]
Chr7:150671900 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2769G>A (p.Pro923=) single nucleotide variant Cardiac arrhythmia [RCV001841790]|Cardiovascular phenotype [RCV000617961]|Long QT syndrome [RCV000631861]|Short QT syndrome type 1 [RCV002483704]|not provided [RCV001662666] Chr7:150947802 [GRCh38]
Chr7:150644890 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3330+1G>A single nucleotide variant Cardiovascular phenotype [RCV000618028] Chr7:150946876 [GRCh38]
Chr7:150643964 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.916+3G>A single nucleotide variant Cardiovascular phenotype [RCV000618021] Chr7:150958056 [GRCh38]
Chr7:150655144 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu) single nucleotide variant Cardiovascular phenotype [RCV000618256]|Long QT syndrome [RCV000631556] Chr7:150952691 [GRCh38]
Chr7:150649779 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.473-5C>T single nucleotide variant Cardiovascular phenotype [RCV000618400]|Long QT syndrome [RCV001455491]|not provided [RCV003117425] Chr7:150958507 [GRCh38]
Chr7:150655595 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2236del (p.Ala746fs) deletion Cardiovascular phenotype [RCV000619391] Chr7:150950330 [GRCh38]
Chr7:150647418 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3453_3454del (p.His1151fs) microsatellite Long QT syndrome [RCV000627164] Chr7:150945391..150945392 [GRCh38]
Chr7:150642479..150642480 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2190G>A (p.Leu730=) single nucleotide variant Long QT syndrome [RCV002066651]|Short QT syndrome type 1 [RCV002491289]|not specified [RCV000609513] Chr7:150950376 [GRCh38]
Chr7:150647464 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.132C>T (p.Cys44=) single nucleotide variant Cardiac arrhythmia [RCV001841773]|Long QT syndrome [RCV001868068]|not specified [RCV000612209] Chr7:150974886 [GRCh38]
Chr7:150671974 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2206C>T (p.Leu736=) single nucleotide variant Long QT syndrome [RCV001408843]|not provided [RCV001698424] Chr7:150950360 [GRCh38]
Chr7:150647448 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.682G>C (p.Ala228Pro) single nucleotide variant Cardiovascular phenotype [RCV003343962]|Long QT syndrome [RCV000631652]|Short QT syndrome type 1 [RCV002477382] Chr7:150958293 [GRCh38]
Chr7:150655381 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.55A>T (p.Ile19Phe) single nucleotide variant Long QT syndrome [RCV000631726] Chr7:150977859 [GRCh38]
Chr7:150674947 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.312C>G (p.Ser104Arg) single nucleotide variant Long QT syndrome [RCV000631727] Chr7:150959732 [GRCh38]
Chr7:150656820 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1839G>A (p.Thr613=) single nucleotide variant Cardiac arrhythmia [RCV001841823]|Cardiovascular phenotype [RCV002413802]|Long QT syndrome [RCV000631779]|not specified [RCV003323648] Chr7:150951554 [GRCh38]
Chr7:150648642 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1868G>C single nucleotide variant Long QT syndrome [RCV000631798] Chr7:150955423 [GRCh38]
Chr7:150652511 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1852G>A single nucleotide variant Cardiac arrhythmia [RCV001841824]|Long QT syndrome [RCV000631800] Chr7:150955439 [GRCh38]
Chr7:150652527 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2238C>G (p.Ala746=) single nucleotide variant Cardiac arrhythmia [RCV001841825]|Cardiovascular phenotype [RCV002431864]|Long QT syndrome 2 [RCV001162549]|Long QT syndrome [RCV000631810] Chr7:150950328 [GRCh38]
Chr7:150647416 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1128+1739C>T single nucleotide variant not specified [RCV000612424] Chr7:150955552 [GRCh38]
Chr7:150652640 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs) deletion Cardiovascular phenotype [RCV000621471]|Long QT syndrome [RCV000697157] Chr7:150947378..150947390 [GRCh38]
Chr7:150644466..150644478 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1128+1802C>G single nucleotide variant Cardiac arrhythmia [RCV001841771]|not specified [RCV000609894] Chr7:150955489 [GRCh38]
Chr7:150652577 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3075C>T (p.Ile1025=) single nucleotide variant Cardiac arrhythmia [RCV001841800]|Cardiovascular phenotype [RCV000617367]|Long QT syndrome [RCV001484569] Chr7:150947405 [GRCh38]
Chr7:150644493 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3063C>T (p.Ser1021=) single nucleotide variant Cardiac arrhythmia [RCV001841802]|Cardiovascular phenotype [RCV000617908]|Long QT syndrome [RCV000631830]|Short QT syndrome type 1 [RCV002477352]|not provided [RCV001613408]|not specified [RCV001700253] Chr7:150947417 [GRCh38]
Chr7:150644505 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.3264C>G (p.Pro1088=) single nucleotide variant Cardiovascular phenotype [RCV000618491]|Long QT syndrome [RCV003647792] Chr7:150946943 [GRCh38]
Chr7:150644031 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.453C>G (p.Pro151=) single nucleotide variant Long QT syndrome [RCV000532221] Chr7:150959591 [GRCh38]
Chr7:150656679 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2931C>T (p.Cys977=) single nucleotide variant Cardiac arrhythmia [RCV001841498]|Cardiovascular phenotype [RCV002438554]|Long QT syndrome [RCV001229521]|not provided [RCV001092772] Chr7:150947640 [GRCh38]
Chr7:150644728 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1946-9C>T single nucleotide variant Cardiac arrhythmia [RCV001841431]|Long QT syndrome [RCV000533841]|not provided [RCV001561388] Chr7:150951129 [GRCh38]
Chr7:150648217 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1888C>T single nucleotide variant Long QT syndrome [RCV000533992] Chr7:150955403 [GRCh38]
Chr7:150652491 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1076T>A (p.Ile359Lys) single nucleotide variant Long QT syndrome [RCV000557055] Chr7:150957343 [GRCh38]
Chr7:150654431 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2398+3A>G single nucleotide variant Long QT syndrome [RCV000627146] Chr7:150950165 [GRCh38]
Chr7:150647253 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3054del (p.Thr1019fs) deletion Long QT syndrome [RCV000627151] Chr7:150947426 [GRCh38]
Chr7:150644514 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1674G>A (p.Ala558=) single nucleotide variant Cardiac arrhythmia [RCV001841506]|Cardiovascular phenotype [RCV003343945]|Long QT syndrome [RCV001475015]|not specified [RCV000611034] Chr7:150951719 [GRCh38]
Chr7:150648807 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3095_3107dup (p.Asp1037fs) duplication not provided [RCV000627442] Chr7:150947372..150947373 [GRCh38]
Chr7:150644460..150644461 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2055C>T (p.Arg685=) single nucleotide variant Cardiac arrhythmia [RCV001841503]|Cardiovascular phenotype [RCV002420603]|Long QT syndrome [RCV000866838]|not specified [RCV000613875] Chr7:150951011 [GRCh38]
Chr7:150648099 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1740G>A single nucleotide variant not specified [RCV000611304] Chr7:150955551 [GRCh38]
Chr7:150652639 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2692+7C>G single nucleotide variant Long QT syndrome [RCV000539411]|not provided [RCV000829311]|not specified [RCV001729623] Chr7:150948437 [GRCh38]
Chr7:150645525 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.3090G>A (p.Pro1030=) single nucleotide variant Cardiac arrhythmia [RCV001841779]|Long QT syndrome [RCV001232861]|not specified [RCV000608733] Chr7:150947390 [GRCh38]
Chr7:150644478 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs) duplication Cardiovascular phenotype [RCV002323918]|Long QT syndrome [RCV000558185] Chr7:150947383..150947384 [GRCh38]
Chr7:150644471..150644472 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1694C>G (p.Ala565Gly) single nucleotide variant Long QT syndrome [RCV003318461] Chr7:150951699 [GRCh38]
Chr7:150648787 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.-25C>T single nucleotide variant not specified [RCV000614484] Chr7:150977938 [GRCh38]
Chr7:150675026 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.935G>A (p.Arg312His) single nucleotide variant Cardiac arrhythmia [RCV001841450]|Cardiovascular phenotype [RCV002377008]|Long QT syndrome [RCV000535891]|not provided [RCV001729624] Chr7:150957484 [GRCh38]
Chr7:150654572 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2146-16C>T single nucleotide variant Long QT syndrome [RCV002066650]|not specified [RCV000604598] Chr7:150950436 [GRCh38]
Chr7:150647524 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1905C>T (p.Asn635=) single nucleotide variant Cardiovascular phenotype [RCV003311170] Chr7:150951488 [GRCh38]
Chr7:150648576 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3061A>C (p.Ser1021Arg) single nucleotide variant Cardiovascular phenotype [RCV003311166] Chr7:150947419 [GRCh38]
Chr7:150644507 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2566C>T (p.Leu856=) single nucleotide variant Cardiovascular phenotype [RCV003311168] Chr7:150948882 [GRCh38]
Chr7:150645970 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.512_536del (p.Leu171fs) deletion Long QT syndrome [RCV000631581] Chr7:150958439..150958463 [GRCh38]
Chr7:150655527..150655551 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2657dup (p.Arg887fs) duplication Long QT syndrome [RCV000631554] Chr7:150948478..150948479 [GRCh38]
Chr7:150645566..150645567 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.431A>T (p.Asp144Val) single nucleotide variant Cardiac arrhythmia [RCV001841813]|Cardiovascular phenotype [RCV002331109]|KCNH2-related condition [RCV003892416]|Long QT syndrome [RCV000631559] Chr7:150959613 [GRCh38]
Chr7:150656701 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2832G>T (p.Glu944Asp) single nucleotide variant Cardiac arrhythmia [RCV001841815]|Long QT syndrome [RCV000631623]|Short QT syndrome type 1 [RCV002483779] Chr7:150947739 [GRCh38]
Chr7:150644827 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.470del (p.Pro157fs) deletion Long QT syndrome [RCV000631645] Chr7:150959574 [GRCh38]
Chr7:150656662 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.710C>A (p.Pro237His) single nucleotide variant Long QT syndrome [RCV000631651] Chr7:150958265 [GRCh38]
Chr7:150655353 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3161C>T (p.Thr1054Ile) single nucleotide variant Long QT syndrome [RCV000631694] Chr7:150947046 [GRCh38]
Chr7:150644134 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2122A>G (p.Thr708Ala) single nucleotide variant Cardiovascular phenotype [RCV003302988]|Long QT syndrome [RCV000631697] Chr7:150950944 [GRCh38]
Chr7:150648032 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2735G>A (p.Arg912Gln) single nucleotide variant Cardiac arrhythmia [RCV001841818]|Cardiovascular phenotype [RCV002438654]|Long QT syndrome [RCV000631708] Chr7:150947836 [GRCh38]
Chr7:150644924 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1146C>T (p.Ala382=) single nucleotide variant Cardiac arrhythmia [RCV001841821]|Cardiovascular phenotype [RCV002457998]|Long QT syndrome [RCV000631754] Chr7:150952836 [GRCh38]
Chr7:150649924 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3465G>A (p.Ser1155=) single nucleotide variant Cardiovascular phenotype [RCV002334063]|Long QT syndrome [RCV000631765] Chr7:150945380 [GRCh38]
Chr7:150642468 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2965+7C>T single nucleotide variant Long QT syndrome [RCV000631804] Chr7:150947599 [GRCh38]
Chr7:150644687 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2133C>T (p.Ile711=) single nucleotide variant Cardiac arrhythmia [RCV001841792]|Cardiovascular phenotype [RCV000618230]|Long QT syndrome [RCV001519065]|not provided [RCV001672898] Chr7:150950933 [GRCh38]
Chr7:150648021 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1512C>T (p.Ala504=) single nucleotide variant Cardiac arrhythmia [RCV001841827]|Cardiovascular phenotype [RCV003162800]|Long QT syndrome [RCV001418839]|not provided [RCV000631823] Chr7:150952470 [GRCh38]
Chr7:150649558 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2778G>A (p.Pro926=) single nucleotide variant Cardiac arrhythmia [RCV001841830]|Long QT syndrome [RCV000631862]|not provided [RCV001724108]|not specified [RCV001700282] Chr7:150947793 [GRCh38]
Chr7:150644881 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NC_000007.13:g.(?_150644396)_(150649961_?)dup duplication Long QT syndrome [RCV000631879] Chr7:150947308..150952873 [GRCh38]
Chr7:150644396..150649961 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NC_000007.13:g.(?_150642433)_(151573725_?)del deletion Long QT syndrome [RCV000631876] Chr7:150642433..151573725 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.186A>T (p.Arg62=) single nucleotide variant Cardiac arrhythmia [RCV001841504]|Cardiovascular phenotype [RCV002413723]|Long QT syndrome [RCV000860592]|not specified [RCV000603485] Chr7:150974832 [GRCh38]
Chr7:150671920 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs) deletion Cardiovascular phenotype [RCV000619327]|Long QT syndrome [RCV002531800] Chr7:150947799..150947808 [GRCh38]
Chr7:150644887..150644896 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2770G>T (p.Gly924Trp) single nucleotide variant Cardiac arrhythmia [RCV001841799]|Cardiovascular phenotype [RCV000619449]|Long QT syndrome [RCV000631724]|Short QT syndrome type 1 [RCV002491321] Chr7:150947801 [GRCh38]
Chr7:150644889 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1693G>T (p.Ala565Ser) single nucleotide variant Cardiovascular phenotype [RCV000620352] Chr7:150951700 [GRCh38]
Chr7:150648788 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs) duplication Cardiovascular phenotype [RCV000621521]|Long QT syndrome [RCV001868112]|not provided [RCV001550285] Chr7:150947386..150947387 [GRCh38]
Chr7:150644474..150644475 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs) microsatellite Cardiovascular phenotype [RCV000621580]|Long QT syndrome [RCV001234823] Chr7:150958064..150958065 [GRCh38]
Chr7:150655152..150655153 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3279G>A (p.Pro1093=) single nucleotide variant Cardiovascular phenotype [RCV000620503]|Long QT syndrome [RCV001471062] Chr7:150946928 [GRCh38]
Chr7:150644016 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2616C>A (p.Pro872=) single nucleotide variant Cardiovascular phenotype [RCV000621172]|Long QT syndrome [RCV001855268] Chr7:150948520 [GRCh38]
Chr7:150645608 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2296G>A (p.Gly766Arg) single nucleotide variant Cardiovascular phenotype [RCV000621191] Chr7:150950270 [GRCh38]
Chr7:150647358 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs) duplication Cardiovascular phenotype [RCV000621911]|Long QT syndrome 2 [RCV001258355]|Long QT syndrome [RCV002531773] Chr7:150948455..150948456 [GRCh38]
Chr7:150645543..150645544 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn) single nucleotide variant Long QT syndrome 2 [RCV000624163] Chr7:150974926 [GRCh38]
Chr7:150672014 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2046G>C (p.Glu682Asp) single nucleotide variant Cardiac arrhythmia [RCV001841485]|Cardiovascular phenotype [RCV002420549]|Wolff-Parkinson-White pattern [RCV000656204]|not provided [RCV000762486] Chr7:150951020 [GRCh38]
Chr7:150648108 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2145+3G>A single nucleotide variant Cardiovascular phenotype [RCV000617503] Chr7:150950918 [GRCh38]
Chr7:150648006 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2222A>G (p.Lys741Arg) single nucleotide variant Long QT syndrome [RCV000685897]|not provided [RCV001813797] Chr7:150950344 [GRCh38]
Chr7:150647432 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1132_1133del (p.Leu378fs) deletion Long QT syndrome [RCV000685357] Chr7:150952849..150952850 [GRCh38]
Chr7:150649937..150649938 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
NM_000238.4(KCNH2):c.2398+2T>A single nucleotide variant Long QT syndrome 2 [RCV000678915] Chr7:150950166 [GRCh38]
Chr7:150647254 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter) single nucleotide variant Long QT syndrome 2 [RCV000678933] Chr7:150951545 [GRCh38]
Chr7:150648633 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1537T>C (p.Phe513Leu) single nucleotide variant Long QT syndrome [RCV000687864] Chr7:150952445 [GRCh38]
Chr7:150649533 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3049G>T (p.Ala1017Ser) single nucleotide variant Cardiac arrhythmia [RCV001841854]|Cardiovascular phenotype [RCV003303107]|Long QT syndrome [RCV000685516]|Short QT syndrome type 1 [RCV002485589]|not provided [RCV001796180] Chr7:150947431 [GRCh38]
Chr7:150644519 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.823A>C (p.Ser275Arg) single nucleotide variant Cardiovascular phenotype [RCV002424685]|Long QT syndrome [RCV000699831]|not provided [RCV003148834]|not specified [RCV001844226] Chr7:150958152 [GRCh38]
Chr7:150655240 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1742C>T (p.Ser581Leu) single nucleotide variant Cardiac arrhythmia [RCV001841869]|Cardiovascular phenotype [RCV002406625]|Long QT syndrome [RCV000700873] Chr7:150951651 [GRCh38]
Chr7:150648739 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.443G>A (p.Arg148Gln) single nucleotide variant Cardiac arrhythmia [RCV001841855]|Cardiovascular phenotype [RCV002331330]|Long QT syndrome [RCV000687344]|Short QT syndrome type 1 [RCV002493154]|not provided [RCV001592868] Chr7:150959601 [GRCh38]
Chr7:150656689 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.245T>C (p.Ile82Thr) single nucleotide variant Long QT syndrome 2 [RCV000709728]|Long QT syndrome [RCV002532901] Chr7:150974773 [GRCh38]
Chr7:150671861 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.135C>A (p.Asn45Lys) single nucleotide variant Long QT syndrome [RCV000690643] Chr7:150974883 [GRCh38]
Chr7:150671971 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2768C>T (p.Pro923Leu) single nucleotide variant Cardiac arrhythmia [RCV001841862]|Long QT syndrome 2 [RCV001160951]|Long QT syndrome [RCV000693620] Chr7:150947803 [GRCh38]
Chr7:150644891 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln) single nucleotide variant Long QT syndrome [RCV000693704] Chr7:150951702 [GRCh38]
Chr7:150648790 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NC_000007.14:g.(?_150955988)_(150958464_?)del deletion Long QT syndrome [RCV000707746] Chr7:150955988..150958464 [GRCh38]
Chr7:150653076..150655552 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1755G>C (p.Trp585Cys) single nucleotide variant Long QT syndrome [RCV000705565] Chr7:150951638 [GRCh38]
Chr7:150648726 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.647C>T (p.Thr216Ile) single nucleotide variant Long QT syndrome [RCV000706092] Chr7:150958328 [GRCh38]
Chr7:150655416 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2692+7C>T single nucleotide variant Long QT syndrome [RCV000698339]|Short QT syndrome type 1 [RCV002477591]|not provided [RCV000712075] Chr7:150948437 [GRCh38]
Chr7:150645525 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.779C>T (p.Ala260Val) single nucleotide variant Cardiovascular phenotype [RCV002406565]|Long QT syndrome [RCV000692137] Chr7:150958196 [GRCh38]
Chr7:150655284 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.14:g.(?_150959552)_(150959756_?)del deletion Long QT syndrome [RCV000708399] Chr7:150959552..150959756 [GRCh38]
Chr7:150656640..150656844 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3464C>T (p.Ser1155Leu) single nucleotide variant Long QT syndrome [RCV000703984] Chr7:150945381 [GRCh38]
Chr7:150642469 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3185C>T (p.Thr1062Ile) single nucleotide variant Long QT syndrome [RCV000801456]|not provided [RCV000712079] Chr7:150947022 [GRCh38]
Chr7:150644110 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2931C>A (p.Cys977Ter) single nucleotide variant Long QT syndrome [RCV000688235] Chr7:150947640 [GRCh38]
Chr7:150644728 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.76_76+1del microsatellite Long QT syndrome [RCV000702790] Chr7:150977837..150977838 [GRCh38]
Chr7:150674925..150674926 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2035C>T (p.Arg679Trp) single nucleotide variant Cardiac arrhythmia [RCV001841874]|Long QT syndrome [RCV000705040] Chr7:150951031 [GRCh38]
Chr7:150648119 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1475A>T (p.His492Leu) single nucleotide variant Long QT syndrome [RCV000705178] Chr7:150952507 [GRCh38]
Chr7:150649595 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1181G>A (p.Arg394His) single nucleotide variant Cardiac arrhythmia [RCV001841852]|Cardiovascular phenotype [RCV003163090]|Long QT syndrome [RCV000684963] Chr7:150952801 [GRCh38]
Chr7:150649889 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2694_2699dup (p.Asp898_Thr899dup) insertion Long QT syndrome [RCV000699419] Chr7:150948443..150948444 [GRCh38]
Chr7:150645531..150645532 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1884_1894delinsTGAAG (p.Asn629_Pro632delinsGluAla) indel Long QT syndrome [RCV000691355] Chr7:150951499..150951509 [GRCh38]
Chr7:150648587..150648597 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1129-831_3109dup duplication Long QT syndrome [RCV000691645] Chr7:150947370..150947371 [GRCh38]
Chr7:150644458..150644459 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.1603G>T (p.Val535Leu) single nucleotide variant Long QT syndrome [RCV000691804] Chr7:150951790 [GRCh38]
Chr7:150648878 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3061A>G (p.Ser1021Gly) single nucleotide variant Long QT syndrome [RCV000694431] Chr7:150947419 [GRCh38]
Chr7:150644507 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.523G>A (p.Ala175Thr) single nucleotide variant Long QT syndrome [RCV000692225] Chr7:150958452 [GRCh38]
Chr7:150655540 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3350G>T (p.Cys1117Phe) single nucleotide variant Long QT syndrome [RCV000706327] Chr7:150945495 [GRCh38]
Chr7:150642583 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.910_916+11del deletion Long QT syndrome [RCV000706331] Chr7:150958048..150958065 [GRCh38]
Chr7:150655136..150655153 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.1447G>A (p.Val483Ile) single nucleotide variant Cardiac arrhythmia [RCV001842607]|Cardiovascular phenotype [RCV003160535]|Long QT syndrome [RCV001064914] Chr7:150952535 [GRCh38]
Chr7:150649623 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.251A>G (p.Gln84Arg) single nucleotide variant Long QT syndrome 2 [RCV001730066] Chr7:150974767 [GRCh38]
Chr7:150671855 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q35-36.1(chr7:143711059-152573935)x3 copy number gain not provided [RCV000747094] Chr7:143711059..152573935 [GRCh37]
Chr7:7q35-36.1		 benign
GRCh37/hg19 7q36.1-36.3(chr7:148238976-159126310)x1 copy number loss not provided [RCV000747115] Chr7:148238976..159126310 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NM_000238.4(KCNH2):c.1128+1883C>T single nucleotide variant Long QT syndrome [RCV000869558] Chr7:150955408 [GRCh38]
Chr7:150652496 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.504C>G (p.Pro168=) single nucleotide variant Cardiovascular phenotype [RCV002336756]|Long QT syndrome 2 [RCV001164708]|Long QT syndrome [RCV000862028]|not provided [RCV001575800] Chr7:150958471 [GRCh38]
Chr7:150655559 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2109C>T (p.His703=) single nucleotide variant Cardiac arrhythmia [RCV003591790]|Long QT syndrome [RCV000869711]|not provided [RCV001726353] Chr7:150950957 [GRCh38]
Chr7:150648045 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2965+35G>A single nucleotide variant not provided [RCV001668753] Chr7:150947571 [GRCh38]
Chr7:150644659 [GRCh37]
Chr7:7q36.1		 benign
NC_000007.14:g.150978411C>A single nucleotide variant not provided [RCV001534169] Chr7:150978411 [GRCh38]
Chr7:150675499 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2616dup (p.Gly873fs) duplication Long QT syndrome 2 [RCV000853607]|Long QT syndrome [RCV001858519] Chr7:150948519..150948520 [GRCh38]
Chr7:150645607..150645608 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2693-184_2693-183del deletion not provided [RCV001571020] Chr7:150948061..150948062 [GRCh38]
Chr7:150645149..150645150 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.553_581delinsACCGGG (p.Ala185fs) indel not provided [RCV001567780] Chr7:150958394..150958422 [GRCh38]
Chr7:150655482..150655510 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2044del (p.Glu682fs) deletion Long QT syndrome [RCV000999583] Chr7:150951022 [GRCh38]
Chr7:150648110 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter) single nucleotide variant Long QT syndrome [RCV001390278]|not provided [RCV000760478] Chr7:150952634 [GRCh38]
Chr7:150649722 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter) single nucleotide variant Cardiac arrhythmia [RCV002282358]|Long QT syndrome [RCV002533838]|not provided [RCV000760518] Chr7:150951063 [GRCh38]
Chr7:150648151 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.1736T>G (p.Met579Arg) single nucleotide variant not provided [RCV003314820] Chr7:150951657 [GRCh38]
Chr7:150648745 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.754C>A (p.Arg252=) single nucleotide variant Long QT syndrome [RCV002568451]|not provided [RCV001569137] Chr7:150958221 [GRCh38]
Chr7:150655309 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.*56C>T single nucleotide variant Long QT syndrome 2 [RCV001164499] Chr7:150945309 [GRCh38]
Chr7:150642397 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.566G>T (p.Gly189Val) single nucleotide variant Long QT syndrome 2 [RCV000790444]|Long QT syndrome [RCV001869236] Chr7:150958409 [GRCh38]
Chr7:150655497 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.76+43C>G single nucleotide variant not provided [RCV001566130] Chr7:150977795 [GRCh38]
Chr7:150674883 [GRCh37]
Chr7:7q36.1		 likely benign
NC_000007.13:g.(?_150066801)_(150759750_?)del deletion Long QT syndrome [RCV001031491] Chr7:150066801..150759750 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1128+1497G>A single nucleotide variant not provided [RCV001665793] Chr7:150955794 [GRCh38]
Chr7:150652882 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.1128+1960A>G single nucleotide variant not provided [RCV001666450] Chr7:150955331 [GRCh38]
Chr7:150652419 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.77-13C>T single nucleotide variant Long QT syndrome [RCV002573291]|not provided [RCV001586333] Chr7:150974954 [GRCh38]
Chr7:150672042 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3330+22T>C single nucleotide variant not provided [RCV001681701] Chr7:150946855 [GRCh38]
Chr7:150643943 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.352G>A (p.Glu118Lys) single nucleotide variant Long QT syndrome [RCV002790731] Chr7:150959692 [GRCh38]
Chr7:150656780 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.702G>C (p.Leu234=) single nucleotide variant Cardiovascular phenotype [RCV002372647]|Long QT syndrome [RCV000945884] Chr7:150958273 [GRCh38]
Chr7:150655361 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1830C>T single nucleotide variant Cardiac arrhythmia [RCV001842537]|Long QT syndrome [RCV000869060]|not provided [RCV003229870] Chr7:150955461 [GRCh38]
Chr7:150652549 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2679G>A (p.Arg893=) single nucleotide variant Long QT syndrome [RCV001467597] Chr7:150948457 [GRCh38]
Chr7:150645545 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2892C>G (p.Pro964=) single nucleotide variant Cardiac arrhythmia [RCV001842540]|Cardiovascular phenotype [RCV003353073]|Long QT syndrome [RCV001392585]|not specified [RCV001174701] Chr7:150947679 [GRCh38]
Chr7:150644767 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2478C>T (p.Thr826=) single nucleotide variant Long QT syndrome [RCV000924950] Chr7:150948970 [GRCh38]
Chr7:150646058 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1404C>T (p.Leu468=) single nucleotide variant Cardiac arrhythmia [RCV001842576]|Long QT syndrome [RCV001439121] Chr7:150952578 [GRCh38]
Chr7:150649666 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1873G>C (p.Val625Leu) single nucleotide variant not provided [RCV000756284] Chr7:150951520 [GRCh38]
Chr7:150648608 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.77-4C>T single nucleotide variant Cardiac arrhythmia [RCV001842027]|Long QT syndrome [RCV001442977] Chr7:150974945 [GRCh38]
Chr7:150672033 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.267C>G (p.Ala89=) single nucleotide variant Long QT syndrome [RCV003532317] Chr7:150974751 [GRCh38]
Chr7:150671839 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1851C>T single nucleotide variant Long QT syndrome [RCV001430508] Chr7:150955440 [GRCh38]
Chr7:150652528 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1822G>T single nucleotide variant Long QT syndrome [RCV001488823] Chr7:150955469 [GRCh38]
Chr7:150652557 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1908A>G (p.Ser636=) single nucleotide variant Cardiac arrhythmia [RCV001842569]|Long QT syndrome [RCV001437243] Chr7:150951485 [GRCh38]
Chr7:150648573 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3225G>A (p.Pro1075=) single nucleotide variant Cardiac arrhythmia [RCV001842564]|Long QT syndrome [RCV001502773] Chr7:150946982 [GRCh38]
Chr7:150644070 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.446G>A (p.Gly149Asp) single nucleotide variant Cardiac arrhythmia [RCV003591839]|Long QT syndrome [RCV001070829] Chr7:150959598 [GRCh38]
Chr7:150656686 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3105_3107dup (p.Gly1036dup) duplication Cardiovascular phenotype [RCV002320277]|Long QT syndrome [RCV001049159]|Short QT syndrome type 1 [RCV002479301] Chr7:150947372..150947373 [GRCh38]
Chr7:150644460..150644461 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.507dup (p.Leu170fs) duplication Long QT syndrome [RCV001055078] Chr7:150958467..150958468 [GRCh38]
Chr7:150655555..150655556 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.211G>T (p.Gly71Trp) single nucleotide variant Long QT syndrome [RCV001058299] Chr7:150974807 [GRCh38]
Chr7:150671895 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.973G>C (p.Val325Leu) single nucleotide variant Cardiac arrhythmia [RCV003591837]|Long QT syndrome [RCV001061412] Chr7:150957446 [GRCh38]
Chr7:150654534 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1052C>T (p.Ser351Leu) single nucleotide variant Cardiac arrhythmia [RCV003591840]|Long QT syndrome 2 [RCV001248791]|Long QT syndrome [RCV001071146] Chr7:150957367 [GRCh38]
Chr7:150654455 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_000238.4(KCNH2):c.46del (p.Asp16fs) deletion Long QT syndrome 2 [RCV000991329]|Long QT syndrome [RCV001873230] Chr7:150977868 [GRCh38]
Chr7:150674956 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2702A>G (p.Gln901Arg) single nucleotide variant Long QT syndrome [RCV001056310] Chr7:150947869 [GRCh38]
Chr7:150644957 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1557+3G>A single nucleotide variant Long QT syndrome [RCV001056330] Chr7:150952422 [GRCh38]
Chr7:150649510 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3187G>C (p.Val1063Leu) single nucleotide variant Long QT syndrome [RCV001048027] Chr7:150947020 [GRCh38]
Chr7:150644108 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2853C>A (p.Ser951Arg) single nucleotide variant Cardiovascular phenotype [RCV002436559]|Long QT syndrome [RCV001042686] Chr7:150947718 [GRCh38]
Chr7:150644806 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3007dup (p.Asp1003fs) duplication Long QT syndrome [RCV001071824] Chr7:150947472..150947473 [GRCh38]
Chr7:150644560..150644561 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_000238.4(KCNH2):c.2641T>A (p.Phe881Ile) single nucleotide variant Cardiac arrhythmia [RCV003591836]|Cardiovascular phenotype [RCV003160486]|Long QT syndrome [RCV001060588]|Short QT syndrome type 1 [RCV002479359] Chr7:150948495 [GRCh38]
Chr7:150645583 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.995A>G (p.Lys332Arg) single nucleotide variant Long QT syndrome [RCV001050784] Chr7:150957424 [GRCh38]
Chr7:150654512 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3089C>G (p.Pro1030Arg) single nucleotide variant Long QT syndrome [RCV001038629] Chr7:150947391 [GRCh38]
Chr7:150644479 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3162C>G (p.Thr1054=) single nucleotide variant Cardiac arrhythmia [RCV001841887]|Cardiovascular phenotype [RCV002325468]|Long QT syndrome [RCV001426431]|not provided [RCV000827878] Chr7:150947045 [GRCh38]
Chr7:150644133 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3140G>A (p.Arg1047His) single nucleotide variant Cardiac arrhythmia [RCV001841890]|Cardiovascular phenotype [RCV002325469]|Long QT syndrome [RCV001296470]|Short QT syndrome type 1 [RCV002487581] Chr7:150947340 [GRCh38]
Chr7:150644428 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3331-9G>A single nucleotide variant Long QT syndrome [RCV002067368]|not specified [RCV000780362] Chr7:150945523 [GRCh38]
Chr7:150642611 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2398+122T>C single nucleotide variant Cardiac arrhythmia [RCV001841892] Chr7:150950046 [GRCh38]
Chr7:150647134 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1263G>A (p.Thr421=) single nucleotide variant Cardiac arrhythmia [RCV001841895]|Long QT syndrome [RCV001037134] Chr7:150952719 [GRCh38]
Chr7:150649807 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1128+1811G>A single nucleotide variant Cardiac arrhythmia [RCV001841899]|Cardiovascular phenotype [RCV002424765]|not provided [RCV000827553]|not specified [RCV001701314] Chr7:150955480 [GRCh38]
Chr7:150652568 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1071G>T (p.Glu357Asp) single nucleotide variant Cardiac arrhythmia [RCV001841901]|Short QT syndrome type 1 [RCV002477759] Chr7:150957348 [GRCh38]
Chr7:150654436 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.460T>C (p.Trp154Arg) single nucleotide variant Cardiac arrhythmia [RCV001841902] Chr7:150959584 [GRCh38]
Chr7:150656672 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2832G>C (p.Glu944Asp) single nucleotide variant Cardiac arrhythmia [RCV001841904]|Short QT syndrome type 1 [RCV002493412] Chr7:150947739 [GRCh38]
Chr7:150644827 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2660G>T (p.Arg887Leu) single nucleotide variant Cardiac arrhythmia [RCV001841906] Chr7:150948476 [GRCh38]
Chr7:150645564 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2966-4G>A single nucleotide variant Cardiac arrhythmia [RCV001841910]|Long QT syndrome [RCV002534086] Chr7:150947518 [GRCh38]
Chr7:150644606 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2398+155C>A single nucleotide variant Cardiac arrhythmia [RCV001841965] Chr7:150950013 [GRCh38]
Chr7:150647101 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.1983del (p.Ile662fs) deletion Congenital long QT syndrome [RCV000826169]|Long QT syndrome [RCV001858417] Chr7:150951083 [GRCh38]
Chr7:150648171 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.3224C>A (p.Pro1075Gln) single nucleotide variant Cardiac arrhythmia [RCV001841912] Chr7:150946983 [GRCh38]
Chr7:150644071 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.979T>C (p.Tyr327His) single nucleotide variant Cardiac arrhythmia [RCV001841919]|Long QT syndrome [RCV001856073] Chr7:150957440 [GRCh38]
Chr7:150654528 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+1803G>A single nucleotide variant Cardiac arrhythmia [RCV001841966] Chr7:150955488 [GRCh38]
Chr7:150652576 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2651A>G (p.Gln884Arg) single nucleotide variant not specified [RCV000781485] Chr7:150948485 [GRCh38]
Chr7:150645573 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3048C>T (p.Pro1016=) single nucleotide variant Cardiac arrhythmia [RCV001841924]|Cardiovascular phenotype [RCV002442582]|Long QT syndrome [RCV001423720]|not provided [RCV000864381] Chr7:150947432 [GRCh38]
Chr7:150644520 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2457C>T (p.Asn819=) single nucleotide variant Cardiac arrhythmia [RCV001841926]|Cardiovascular phenotype [RCV002442583]|Long QT syndrome [RCV000939139] Chr7:150948991 [GRCh38]
Chr7:150646079 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3453C>A (p.His1151Gln) single nucleotide variant Cardiac arrhythmia [RCV001841928]|Cardiovascular phenotype [RCV002458382]|Long QT syndrome [RCV001873139] Chr7:150945392 [GRCh38]
Chr7:150642480 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3211A>G (p.Met1071Val) single nucleotide variant Cardiac arrhythmia [RCV001841929]|Cardiovascular phenotype [RCV002325473]|Long QT syndrome [RCV001856080] Chr7:150946996 [GRCh38]
Chr7:150644084 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2823T>C (p.Ser941=) single nucleotide variant Cardiac arrhythmia [RCV001841933]|Cardiovascular phenotype [RCV002440606]|Long QT syndrome [RCV002534124] Chr7:150947748 [GRCh38]
Chr7:150644836 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.227G>T (p.Arg76Leu) single nucleotide variant Cardiac arrhythmia [RCV001841941]|Cardiovascular phenotype [RCV002442586]|Short QT syndrome type 1 [RCV002477768] Chr7:150974791 [GRCh38]
Chr7:150671879 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+1861G>A single nucleotide variant Cardiac arrhythmia [RCV001841968] Chr7:150955430 [GRCh38]
Chr7:150652518 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2967C>T (p.Gly989=) single nucleotide variant Cardiac arrhythmia [RCV001841969]|Cardiovascular phenotype [RCV002440614]|Long QT syndrome [RCV001430852]|not provided [RCV000841728] Chr7:150947513 [GRCh38]
Chr7:150644601 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1035C>T (p.Gly345=) single nucleotide variant Cardiac arrhythmia [RCV001841972]|Cardiovascular phenotype [RCV003307413]|Long QT syndrome 2 [RCV001162644]|Long QT syndrome [RCV000810782]|not provided [RCV001712751] Chr7:150957384 [GRCh38]
Chr7:150654472 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance
NM_000238.4(KCNH2):c.2566C>G (p.Leu856Val) single nucleotide variant Cardiac arrhythmia [RCV001841923] Chr7:150948882 [GRCh38]
Chr7:150645970 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.957C>T (p.Thr319=) single nucleotide variant Cardiac arrhythmia [RCV001841940]|Cardiovascular phenotype [RCV002386342]|Long QT syndrome [RCV000867487] Chr7:150957462 [GRCh38]
Chr7:150654550 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2398+87C>T single nucleotide variant Cardiac arrhythmia [RCV001841948] Chr7:150950081 [GRCh38]
Chr7:150647169 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.918G>A (p.Gly306=) single nucleotide variant Cardiac arrhythmia [RCV001841949]|Long QT syndrome [RCV002067294] Chr7:150957501 [GRCh38]
Chr7:150654589 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2685G>A (p.Thr895=) single nucleotide variant Cardiac arrhythmia [RCV001841950] Chr7:150948451 [GRCh38]
Chr7:150645539 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.308-271C>T single nucleotide variant not provided [RCV000827674] Chr7:150960007 [GRCh38]
Chr7:150657095 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2398+25G>T single nucleotide variant Cardiac arrhythmia [RCV001841881]|not provided [RCV001731920] Chr7:150950143 [GRCh38]
Chr7:150647231 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.3399A>G (p.Thr1133=) single nucleotide variant Cardiac arrhythmia [RCV001841951]|Long QT syndrome [RCV001415790]|not provided [RCV003326512] Chr7:150945446 [GRCh38]
Chr7:150642534 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.300G>T (p.Arg100=) single nucleotide variant Cardiac arrhythmia [RCV001841953]|Long QT syndrome [RCV000960763]|not provided [RCV001701441] Chr7:150974718 [GRCh38]
Chr7:150671806 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1887C>T (p.Asn629=) single nucleotide variant Cardiac arrhythmia [RCV001841956]|KCNH2-related condition [RCV003908082]|Long QT syndrome [RCV000873244]|not provided [RCV001171873] Chr7:150951506 [GRCh38]
Chr7:150648594 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2398+155C>T single nucleotide variant Cardiac arrhythmia [RCV001841959] Chr7:150950013 [GRCh38]
Chr7:150647101 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs) duplication Cardiovascular phenotype [RCV003362938]|Long QT syndrome 2 [RCV000790443]|Long QT syndrome [RCV001043963] Chr7:150947371..150947372 [GRCh38]
Chr7:150644459..150644460 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3053C>T (p.Pro1018Leu) single nucleotide variant Cardiovascular phenotype [RCV002442695]|Long QT syndrome [RCV000806782] Chr7:150947427 [GRCh38]
Chr7:150644515 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2693-6C>T single nucleotide variant Long QT syndrome [RCV001415354] Chr7:150947884 [GRCh38]
Chr7:150644972 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.744C>G (p.Leu248=) single nucleotide variant Long QT syndrome [RCV001506186] Chr7:150958231 [GRCh38]
Chr7:150655319 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1129-9C>T single nucleotide variant Cardiac arrhythmia [RCV001842023]|Long QT syndrome [RCV000862912] Chr7:150952862 [GRCh38]
Chr7:150649950 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2955C>T (p.Asn985=) single nucleotide variant Cardiac arrhythmia [RCV001842562]|Long QT syndrome [RCV000917984] Chr7:150947616 [GRCh38]
Chr7:150644704 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1836G>T (p.Val612=) single nucleotide variant Long QT syndrome [RCV001428790] Chr7:150951557 [GRCh38]
Chr7:150648645 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.477C>T (p.Arg159=) single nucleotide variant Cardiovascular phenotype [RCV002332931]|Long QT syndrome [RCV000940205] Chr7:150958498 [GRCh38]
Chr7:150655586 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.77-10G>C single nucleotide variant Cardiac arrhythmia [RCV001842559]|Long QT syndrome [RCV000898795] Chr7:150974951 [GRCh38]
Chr7:150672039 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1713C>T (p.Ile571=) single nucleotide variant Cardiac arrhythmia [RCV001842025]|Cardiovascular phenotype [RCV002399872]|Long QT syndrome [RCV000863384]|Short QT syndrome type 1 [RCV003224480] Chr7:150951680 [GRCh38]
Chr7:150648768 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1974C>T (p.Asn658=) single nucleotide variant Cardiac arrhythmia [RCV001842549]|Cardiovascular phenotype [RCV002416064]|Long QT syndrome [RCV000874052] Chr7:150951092 [GRCh38]
Chr7:150648180 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1854G>A single nucleotide variant Long QT syndrome [RCV001423742] Chr7:150955437 [GRCh38]
Chr7:150652525 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1281C>T (p.Tyr427=) single nucleotide variant Long QT syndrome [RCV000860700] Chr7:150952701 [GRCh38]
Chr7:150649789 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1641G>C (p.Ala547=) single nucleotide variant Long QT syndrome [RCV001505910] Chr7:150951752 [GRCh38]
Chr7:150648840 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3153-10C>A single nucleotide variant Cardiac arrhythmia [RCV001842530]|Long QT syndrome [RCV000865726]|not provided [RCV001712809] Chr7:150947064 [GRCh38]
Chr7:150644152 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.473-4G>A single nucleotide variant Long QT syndrome [RCV000920048] Chr7:150958506 [GRCh38]
Chr7:150655594 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3366G>C (p.Pro1122=) single nucleotide variant Long QT syndrome [RCV000919157] Chr7:150945479 [GRCh38]
Chr7:150642567 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.447C>T (p.Gly149=) single nucleotide variant Cardiovascular phenotype [RCV002332867]|Long QT syndrome [RCV000902580] Chr7:150959597 [GRCh38]
Chr7:150656685 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2547C>T (p.Ser849=) single nucleotide variant Cardiac arrhythmia [RCV001842553]|Cardiovascular phenotype [RCV002427200]|Long QT syndrome [RCV000874809] Chr7:150948901 [GRCh38]
Chr7:150645989 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3321G>C (p.Ser1107=) single nucleotide variant Long QT syndrome [RCV000899493] Chr7:150946886 [GRCh38]
Chr7:150643974 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.969C>T (p.Asp323=) single nucleotide variant Cardiac arrhythmia [RCV001842554]|Cardiovascular phenotype [RCV002372484]|Long QT syndrome [RCV000874878] Chr7:150957450 [GRCh38]
Chr7:150654538 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1749C>T (p.Ile583=) single nucleotide variant Cardiac arrhythmia [RCV001842022]|Long QT syndrome [RCV001442051] Chr7:150951644 [GRCh38]
Chr7:150648732 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1139del (p.Leu380fs) deletion Cardiovascular phenotype [RCV002325484]|Long QT syndrome 2 [RCV001248796]|Long QT syndrome [RCV000780361]|not provided [RCV001570286] Chr7:150952843 [GRCh38]
Chr7:150649931 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.47A>G (p.Asp16Gly) single nucleotide variant Cardiovascular phenotype [RCV003311165]|Long QT syndrome [RCV003647973] Chr7:150977867 [GRCh38]
Chr7:150674955 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1065C>T (p.Asp355=) single nucleotide variant Cardiovascular phenotype [RCV003311167] Chr7:150957354 [GRCh38]
Chr7:150654442 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.663C>G (p.His221Gln) single nucleotide variant Long QT syndrome [RCV000802514] Chr7:150958312 [GRCh38]
Chr7:150655400 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1129-244G>A single nucleotide variant not provided [RCV000839147] Chr7:150953097 [GRCh38]
Chr7:150650185 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.1661T>C (p.Met554Thr) single nucleotide variant Long QT syndrome [RCV000796325] Chr7:150951732 [GRCh38]
Chr7:150648820 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.77-134dup duplication not provided [RCV000831110] Chr7:150975074..150975075 [GRCh38]
Chr7:150672162..150672163 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2077C>T (p.Leu693=) single nucleotide variant Cardiac arrhythmia [RCV001842014]|not provided [RCV000841349] Chr7:150950989 [GRCh38]
Chr7:150648077 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.247G>T (p.Ala83Ser) single nucleotide variant Long QT syndrome [RCV000797407] Chr7:150974771 [GRCh38]
Chr7:150671859 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.299G>T (p.Arg100Leu) single nucleotide variant Long QT syndrome [RCV000813782] Chr7:150974719 [GRCh38]
Chr7:150671807 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1655T>A (p.Leu552Ter) single nucleotide variant Long QT syndrome [RCV000802739]|not provided [RCV001551636] Chr7:150951738 [GRCh38]
Chr7:150648826 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.307+4G>A single nucleotide variant Long QT syndrome [RCV000799382] Chr7:150974707 [GRCh38]
Chr7:150671795 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.84del (p.Lys28fs) deletion Long QT syndrome [RCV000799458] Chr7:150974934 [GRCh38]
Chr7:150672022 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.917-230A>G single nucleotide variant not provided [RCV000837606] Chr7:150957732 [GRCh38]
Chr7:150654820 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2128G>A (p.Gly710Ser) single nucleotide variant Long QT syndrome [RCV000823173] Chr7:150950938 [GRCh38]
Chr7:150648026 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.985A>G (p.Thr329Ala) single nucleotide variant Cardiovascular phenotype [RCV002386385]|Long QT syndrome [RCV000793512] Chr7:150957434 [GRCh38]
Chr7:150654522 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.472+78C>T single nucleotide variant not provided [RCV000832842] Chr7:150959494 [GRCh38]
Chr7:150656582 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.1638C>T (p.Gly546=) single nucleotide variant Cardiac arrhythmia [RCV001841991]|Long QT syndrome [RCV000813607] Chr7:150951755 [GRCh38]
Chr7:150648843 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1397A>T (p.Asp466Val) single nucleotide variant Long QT syndrome [RCV000801222] Chr7:150952585 [GRCh38]
Chr7:150649673 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1611G>T (p.Arg537=) single nucleotide variant Long QT syndrome [RCV000817758] Chr7:150951782 [GRCh38]
Chr7:150648870 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.3358C>G (p.Leu1120Val) single nucleotide variant Long QT syndrome [RCV000819457] Chr7:150945487 [GRCh38]
Chr7:150642575 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter) indel Cardiovascular phenotype [RCV002390696]|Long QT syndrome [RCV000821345] Chr7:150974871..150974872 [GRCh38]
Chr7:150671959..150671960 [GRCh37]
Chr7:7q36.1		 pathogenic
NC_000007.14:g.150948437G>C single nucleotide variant not provided [RCV000829311] Chr7:150645525 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1379del (p.Asp460fs) deletion Long QT syndrome [RCV000807762] Chr7:150952603 [GRCh38]
Chr7:150649691 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2876C>T (p.Ser959Phe) single nucleotide variant Long QT syndrome [RCV000814457] Chr7:150947695 [GRCh38]
Chr7:150644783 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2886G>A (p.Arg962=) single nucleotide variant Cardiac arrhythmia [RCV001842582]|Cardiovascular phenotype [RCV002434387]|Long QT syndrome [RCV001499643] Chr7:150947685 [GRCh38]
Chr7:150644773 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2080C>T (p.Arg694Cys) single nucleotide variant Cardiac arrhythmia [RCV001841985]|Cardiovascular phenotype [RCV002422771]|Long QT syndrome [RCV000807456]|Short QT syndrome type 1 [RCV002478872] Chr7:150950986 [GRCh38]
Chr7:150648074 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1497C>T (p.Leu499=) single nucleotide variant Long QT syndrome [RCV003768586]|not provided [RCV000836638] Chr7:150952485 [GRCh38]
Chr7:150649573 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.234_250dup (p.Gln84fs) duplication Long QT syndrome [RCV000794775] Chr7:150974767..150974768 [GRCh38]
Chr7:150671855..150671856 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1870A>T (p.Ser624Cys) single nucleotide variant Long QT syndrome [RCV000798705] Chr7:150951523 [GRCh38]
Chr7:150648611 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+1860C>T single nucleotide variant Cardiac arrhythmia [RCV001841999]|Long QT syndrome [RCV000818387]|not provided [RCV001567886] Chr7:150955431 [GRCh38]
Chr7:150652519 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2876C>G (p.Ser959Cys) single nucleotide variant Long QT syndrome [RCV000820121] Chr7:150947695 [GRCh38]
Chr7:150644783 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2006G>C (p.Gly669Ala) single nucleotide variant Long QT syndrome [RCV000802061] Chr7:150951060 [GRCh38]
Chr7:150648148 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+131G>A single nucleotide variant not provided [RCV000835207] Chr7:150957160 [GRCh38]
Chr7:150654248 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2145+40G>A single nucleotide variant not provided [RCV000830193] Chr7:150950881 [GRCh38]
Chr7:150647969 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.1477T>C (p.Tyr493His) single nucleotide variant Long QT syndrome [RCV000815444] Chr7:150952505 [GRCh38]
Chr7:150649593 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.977G>A (p.Arg326His) single nucleotide variant Long QT syndrome [RCV000804202] Chr7:150957442 [GRCh38]
Chr7:150654530 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.614C>T (p.Pro205Leu) single nucleotide variant Short QT syndrome type 1 [RCV001029804]|Short QT syndrome type 1 [RCV002497348] Chr7:150958361 [GRCh38]
Chr7:150655449 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2762del (p.Gly921fs) deletion Cardiovascular phenotype [RCV002440737]|Long QT syndrome [RCV000809086]|not provided [RCV001571314] Chr7:150947809 [GRCh38]
Chr7:150644897 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.1557+253del deletion not provided [RCV000844070] Chr7:150952172 [GRCh38]
Chr7:150649260 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2956C>A (p.Pro986Thr) single nucleotide variant Cardiac arrhythmia [RCV001841975]|Cardiovascular phenotype [RCV002440628]|Long QT syndrome [RCV000793076] Chr7:150947615 [GRCh38]
Chr7:150644703 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2711A>G (p.Glu904Gly) single nucleotide variant Long QT syndrome [RCV000795514] Chr7:150947860 [GRCh38]
Chr7:150644948 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2145+39G>C single nucleotide variant not provided [RCV000830192] Chr7:150950882 [GRCh38]
Chr7:150647970 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.729C>G (p.Ser243Arg) single nucleotide variant Long QT syndrome [RCV000803129] Chr7:150958246 [GRCh38]
Chr7:150655334 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.613C>T (p.Pro205Ser) single nucleotide variant Long QT syndrome [RCV000819776] Chr7:150958362 [GRCh38]
Chr7:150655450 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.76+161G>C single nucleotide variant not provided [RCV000831109] Chr7:150977677 [GRCh38]
Chr7:150674765 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2692+32C>G single nucleotide variant not provided [RCV000831169] Chr7:150948412 [GRCh38]
Chr7:150645500 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.683C>T (p.Ala228Val) single nucleotide variant Long QT syndrome [RCV000817036] Chr7:150958292 [GRCh38]
Chr7:150655380 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2399-133G>T single nucleotide variant not provided [RCV000835344] Chr7:150949182 [GRCh38]
Chr7:150646270 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3167dup (p.Ser1057fs) duplication Long QT syndrome [RCV000817168] Chr7:150947039..150947040 [GRCh38]
Chr7:150644127..150644128 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.580G>A (p.Val194Met) single nucleotide variant Cardiovascular phenotype [RCV002352321]|Long QT syndrome [RCV000793912]|not provided [RCV001772046] Chr7:150958395 [GRCh38]
Chr7:150655483 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3471G>A (p.Pro1157=) single nucleotide variant Cardiac arrhythmia [RCV003591783]|Long QT syndrome [RCV000823477] Chr7:150945374 [GRCh38]
Chr7:150642462 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2351_2352inv (p.Arg784Pro) inversion Long QT syndrome [RCV000817728]|not provided [RCV001788361] Chr7:150950214..150950215 [GRCh38]
Chr7:150647302..150647303 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.990T>C (p.Ile330=) single nucleotide variant Cardiac arrhythmia [RCV001841998]|Cardiovascular phenotype [RCV002381843]|Long QT syndrome [RCV000817959] Chr7:150957429 [GRCh38]
Chr7:150654517 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1639G>A (p.Ala547Thr) single nucleotide variant Cardiac arrhythmia [RCV001842001]|Long QT syndrome [RCV000821303]|not provided [RCV002223954] Chr7:150951754 [GRCh38]
Chr7:150648842 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2690delinsCGACAC (p.Lys897fs) indel Long QT syndrome [RCV000821899] Chr7:150948446 [GRCh38]
Chr7:150645534 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2600T>C (p.Met867Thr) single nucleotide variant Cardiac arrhythmia [RCV001841976]|Cardiovascular phenotype [RCV002424813]|Long QT syndrome [RCV000795053] Chr7:150948536 [GRCh38]
Chr7:150645624 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2257del (p.Ala753fs) deletion Long QT syndrome [RCV000792958] Chr7:150950309 [GRCh38]
Chr7:150647397 [GRCh37]
Chr7:7q36.1		 pathogenic
NC_000007.14:g.150955480C>T single nucleotide variant not provided [RCV000827553] Chr7:150652568 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3 copy number gain not provided [RCV000847582] Chr7:149968222..152539376 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150642443)_(151385353_?)dup duplication Long QT syndrome [RCV001031214] Chr7:150642443..151385353 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.896C>T (p.Pro299Leu) single nucleotide variant Long QT syndrome [RCV000794262] Chr7:150958079 [GRCh38]
Chr7:150655167 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3320C>T (p.Ser1107Leu) single nucleotide variant Cardiovascular phenotype [RCV002451183]|Long QT syndrome [RCV001046417]|Short QT syndrome type 1 [RCV001196346] Chr7:150946887 [GRCh38]
Chr7:150643975 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2398+10G>A single nucleotide variant Long QT syndrome [RCV003768580]|not provided [RCV000828694] Chr7:150950158 [GRCh38]
Chr7:150647246 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1676T>C (p.Leu559Pro) single nucleotide variant Long QT syndrome [RCV000812816] Chr7:150951717 [GRCh38]
Chr7:150648805 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1036G>A (p.Asp346Asn) single nucleotide variant Long QT syndrome [RCV001043146] Chr7:150957383 [GRCh38]
Chr7:150654471 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.724C>T (p.Arg242Cys) single nucleotide variant Long QT syndrome [RCV000808256] Chr7:150958251 [GRCh38]
Chr7:150655339 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2792C>T (p.Pro931Leu) single nucleotide variant Cardiac arrhythmia [RCV001841989]|Cardiovascular phenotype [RCV002440749]|Long QT syndrome [RCV000810886]|not specified [RCV003330962] Chr7:150947779 [GRCh38]
Chr7:150644867 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2962T>G (p.Ser988Ala) single nucleotide variant Cardiovascular phenotype [RCV003363094]|Long QT syndrome [RCV001065522] Chr7:150947609 [GRCh38]
Chr7:150644697 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.*92C>G single nucleotide variant Long QT syndrome 2 [RCV001164498] Chr7:150945273 [GRCh38]
Chr7:150642361 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.377T>A (p.Ile126Asn) single nucleotide variant Long QT syndrome [RCV001065664] Chr7:150959667 [GRCh38]
Chr7:150656755 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2530A>G (p.Met844Val) single nucleotide variant Cardiac arrhythmia [RCV001841995]|Long QT syndrome [RCV000814976]|not provided [RCV001280708] Chr7:150948918 [GRCh38]
Chr7:150646006 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.655G>A (p.Asp219Asn) single nucleotide variant Long QT syndrome [RCV000821468] Chr7:150958320 [GRCh38]
Chr7:150655408 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1519C>G (p.Pro507Ala) single nucleotide variant Long QT syndrome [RCV000812509] Chr7:150952463 [GRCh38]
Chr7:150649551 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2647C>A (p.Arg883=) single nucleotide variant Long QT syndrome [RCV001463583] Chr7:150948489 [GRCh38]
Chr7:150645577 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1726delinsTGTTGGCGTG (p.Gln576delinsCysTrpArgGlu) indel Long QT syndrome [RCV000812659] Chr7:150951667 [GRCh38]
Chr7:150648755 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+1884G>A single nucleotide variant Cardiac arrhythmia [RCV001841988]|Long QT syndrome [RCV000810626]|not provided [RCV002473147] Chr7:150955407 [GRCh38]
Chr7:150652495 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1128+2093G>C single nucleotide variant not provided [RCV000831166] Chr7:150955198 [GRCh38]
Chr7:150652286 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2593-51C>T single nucleotide variant not provided [RCV000831167] Chr7:150948594 [GRCh38]
Chr7:150645682 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.1128+1400G>A single nucleotide variant not provided [RCV000844068] Chr7:150955891 [GRCh38]
Chr7:150652979 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.169G>A (p.Ala57Thr) single nucleotide variant Long QT syndrome [RCV000810996] Chr7:150974849 [GRCh38]
Chr7:150671937 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1800del (p.Ser600fs) deletion not provided [RCV001581689] Chr7:150951593 [GRCh38]
Chr7:150648681 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2166G>A (p.Glu722=) single nucleotide variant Cardiovascular phenotype [RCV002427341]|Long QT syndrome [RCV001405114] Chr7:150950400 [GRCh38]
Chr7:150647488 [GRCh37]
Chr7:7q36.1		 likely benign
NC_000007.13:g.(?_150642433)_(150675021_?)dup duplication Long QT syndrome [RCV000800666] Chr7:150945345..150977933 [GRCh38]
Chr7:150642433..150675021 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1516A>G (p.Ile506Val) single nucleotide variant Long QT syndrome [RCV000799996] Chr7:150952466 [GRCh38]
Chr7:150649554 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+222A>G single nucleotide variant not provided [RCV000838268] Chr7:150957069 [GRCh38]
Chr7:150654157 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1053G>C (p.Ser351=) single nucleotide variant Cardiac arrhythmia [RCV001842565]|Cardiovascular phenotype [RCV003353082]|Long QT syndrome [RCV001487108] Chr7:150957366 [GRCh38]
Chr7:150654454 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.77-9C>T single nucleotide variant Cardiac arrhythmia [RCV001842563]|Long QT syndrome [RCV001430077] Chr7:150974950 [GRCh38]
Chr7:150672038 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2892C>T (p.Pro964=) single nucleotide variant Cardiac arrhythmia [RCV001842015]|Cardiovascular phenotype [RCV002434043]|Long QT syndrome [RCV001484173]|not provided [RCV000842095] Chr7:150947679 [GRCh38]
Chr7:150644767 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3261C>T (p.Gly1087=) single nucleotide variant Cardiac arrhythmia [RCV001842544]|Long QT syndrome [RCV000872193] Chr7:150946946 [GRCh38]
Chr7:150644034 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2399-3C>T single nucleotide variant Long QT syndrome [RCV000795403] Chr7:150949052 [GRCh38]
Chr7:150646140 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs) deletion Cardiovascular phenotype [RCV002442727]|Long QT syndrome [RCV000814464] Chr7:150946976..150946982 [GRCh38]
Chr7:150644064..150644070 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2612C>G (p.Ser871Cys) single nucleotide variant Cardiac arrhythmia [RCV001843071] Chr7:150948524 [GRCh38]
Chr7:150645612 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q36.1(chr7:150112013-150707556)x3 copy number gain not provided [RCV000847609] Chr7:150112013..150707556 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.499C>G (p.Leu167Val) single nucleotide variant not specified [RCV001194445] Chr7:150958476 [GRCh38]
Chr7:150655564 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1814C>A (p.Pro605His) single nucleotide variant Long QT syndrome [RCV001064900] Chr7:150951579 [GRCh38]
Chr7:150648667 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1179G>A (p.Pro393=) single nucleotide variant Cardiac arrhythmia [RCV001843072]|Long QT syndrome [RCV002067911] Chr7:150952803 [GRCh38]
Chr7:150649891 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1460G>C (p.Gly487Ala) single nucleotide variant Cardiac arrhythmia [RCV001843073] Chr7:150952522 [GRCh38]
Chr7:150649610 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.14:g.(?_150946867)_(150947888_?)del deletion Long QT syndrome [RCV001032623] Chr7:150643955..150644976 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3357G>A (p.Glu1119=) single nucleotide variant Cardiac arrhythmia [RCV001842581]|Long QT syndrome [RCV002068740]|not provided [RCV000998941] Chr7:150945488 [GRCh38]
Chr7:150642576 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.927C>G (p.His309Gln) single nucleotide variant Long QT syndrome [RCV003531407] Chr7:150957492 [GRCh38]
Chr7:150654580 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
NM_000238.4(KCNH2):c.1557+2T>C single nucleotide variant Long QT syndrome 2 [RCV000857230] Chr7:150952423 [GRCh38]
Chr7:150649511 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.864C>T (p.Ile288=) single nucleotide variant Cardiovascular phenotype [RCV002372458]|Long QT syndrome 2 [RCV001162647]|Long QT syndrome [RCV000870210] Chr7:150958111 [GRCh38]
Chr7:150655199 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.*268C>T single nucleotide variant Long QT syndrome 2 [RCV001162455] Chr7:150945097 [GRCh38]
Chr7:150642185 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.*147T>A single nucleotide variant Long QT syndrome 2 [RCV001162457] Chr7:150945218 [GRCh38]
Chr7:150642306 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1129-18C>T single nucleotide variant Long QT syndrome [RCV002069259]|not provided [RCV001540183]|not specified [RCV001194448] Chr7:150952871 [GRCh38]
Chr7:150649959 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2613C>T (p.Ser871=) single nucleotide variant Cardiac arrhythmia [RCV001843074] Chr7:150948523 [GRCh38]
Chr7:150645611 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2779_2786dup (p.Glu929fs) duplication not provided [RCV001009194] Chr7:150947784..150947785 [GRCh38]
Chr7:150644872..150644873 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.156C>G (p.Cys52Trp) single nucleotide variant Long QT syndrome [RCV001248114] Chr7:150974862 [GRCh38]
Chr7:150671950 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
NM_000238.4(KCNH2):c.1688G>A (p.Trp563Ter) single nucleotide variant Long QT syndrome [RCV001213523] Chr7:150951705 [GRCh38]
Chr7:150648793 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3032A>G (p.Glu1011Gly) single nucleotide variant Cardiac arrhythmia [RCV001843116]|Long QT syndrome [RCV001369303] Chr7:150947448 [GRCh38]
Chr7:150644536 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.478G>T (p.Ala160Ser) single nucleotide variant Cardiovascular phenotype [RCV002339623]|Long QT syndrome [RCV001228478]|Short QT syndrome type 1 [RCV002491723] Chr7:150958497 [GRCh38]
Chr7:150655585 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.102T>C (p.Ala34=) single nucleotide variant Cardiac arrhythmia [RCV001842646]|Cardiovascular phenotype [RCV002379677] Chr7:150974916 [GRCh38]
Chr7:150672004 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.923T>G (p.Met308Arg) single nucleotide variant Cardiac arrhythmia [RCV001843181]|Cardiovascular phenotype [RCV002375079]|Long QT syndrome [RCV001298458]|not provided [RCV002224005] Chr7:150957496 [GRCh38]
Chr7:150654584 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3400C>T (p.Arg1134Ter) single nucleotide variant Cardiac arrhythmia [RCV001843185]|Cardiovascular phenotype [RCV003284023]|Long QT syndrome [RCV001218764] Chr7:150945445 [GRCh38]
Chr7:150642533 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2899C>T (p.Pro967Ser) single nucleotide variant Cardiac arrhythmia [RCV001843195]|Cardiovascular phenotype [RCV003163435]|Long QT syndrome [RCV001229240] Chr7:150947672 [GRCh38]
Chr7:150644760 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3092G>A (p.Gly1031Asp) single nucleotide variant Cardiac arrhythmia [RCV001842699] Chr7:150947388 [GRCh38]
Chr7:150644476 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2765G>T (p.Arg922Leu) single nucleotide variant Cardiac arrhythmia [RCV001843245] Chr7:150947806 [GRCh38]
Chr7:150644894 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2960del (p.Leu987fs) deletion Long QT syndrome [RCV001213882] Chr7:150947611 [GRCh38]
Chr7:150644699 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1668C>T (p.Thr556=) single nucleotide variant Cardiac arrhythmia [RCV001842710]|Long QT syndrome [RCV001436777] Chr7:150951725 [GRCh38]
Chr7:150648813 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2316T>C (p.Ala772=) single nucleotide variant Cardiac arrhythmia [RCV001842717]|Long QT syndrome [RCV001487607] Chr7:150950250 [GRCh38]
Chr7:150647338 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2788A>G (p.Ser930Gly) single nucleotide variant Cardiac arrhythmia [RCV001843252] Chr7:150947783 [GRCh38]
Chr7:150644871 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2398+106T>G single nucleotide variant Cardiac arrhythmia [RCV001842730] Chr7:150950062 [GRCh38]
Chr7:150647150 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe) single nucleotide variant Long QT syndrome 2 [RCV001248797] Chr7:150974872 [GRCh38]
Chr7:150671960 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2145+5G>C single nucleotide variant Long QT syndrome [RCV001202062] Chr7:150950916 [GRCh38]
Chr7:150648004 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.838C>T (p.Arg280Cys) single nucleotide variant Long QT syndrome [RCV001213701] Chr7:150958137 [GRCh38]
Chr7:150655225 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.455C>T (p.Thr152Ile) single nucleotide variant Long QT syndrome [RCV001210577] Chr7:150959589 [GRCh38]
Chr7:150656677 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3473G>C (p.Gly1158Ala) single nucleotide variant Long QT syndrome [RCV001208871] Chr7:150945372 [GRCh38]
Chr7:150642460 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.134A>C (p.Asn45Thr) single nucleotide variant Long QT syndrome [RCV001220675] Chr7:150974884 [GRCh38]
Chr7:150671972 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.293T>G (p.Phe98Cys) single nucleotide variant Long QT syndrome [RCV001217568] Chr7:150974725 [GRCh38]
Chr7:150671813 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2612C>T (p.Ser871Phe) single nucleotide variant Long QT syndrome [RCV001226934] Chr7:150948524 [GRCh38]
Chr7:150645612 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2030T>C (p.Met677Thr) single nucleotide variant Long QT syndrome [RCV001209391] Chr7:150951036 [GRCh38]
Chr7:150648124 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1447G>T (p.Val483Phe) single nucleotide variant Long QT syndrome [RCV001221384] Chr7:150952535 [GRCh38]
Chr7:150649623 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2767_2770dup (p.Gly924fs) microsatellite Long QT syndrome [RCV001221208] Chr7:150947800..150947801 [GRCh38]
Chr7:150644888..150644889 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.692G>A (p.Arg231Gln) single nucleotide variant Cardiovascular phenotype [RCV002375217]|Long QT syndrome [RCV001225093] Chr7:150958283 [GRCh38]
Chr7:150655371 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2386G>T (p.Val796Leu) single nucleotide variant Long QT syndrome [RCV001209572]|Short QT syndrome type 1 [RCV002497719] Chr7:150950180 [GRCh38]
Chr7:150647268 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.331G>A (p.Asp111Asn) single nucleotide variant Cardiac arrhythmia [RCV001843081] Chr7:150959713 [GRCh38]
Chr7:150656801 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.203T>G (p.Phe68Cys) single nucleotide variant Long QT syndrome [RCV001209799] Chr7:150974815 [GRCh38]
Chr7:150671903 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3410C>A (p.Ser1137Tyr) single nucleotide variant Cardiac arrhythmia [RCV003591848]|Cardiovascular phenotype [RCV002451585]|Long QT syndrome [RCV001240613] Chr7:150945435 [GRCh38]
Chr7:150642523 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3292A>C (p.Ser1098Arg) single nucleotide variant Long QT syndrome [RCV001240714] Chr7:150946915 [GRCh38]
Chr7:150644003 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2713_2726delinsCA (p.Val905_Gly909delinsGln) indel Cardiac arrhythmia [RCV001843077] Chr7:150947845..150947858 [GRCh38]
Chr7:150644933..150644946 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1854C>T (p.Thr618=) single nucleotide variant Cardiac arrhythmia [RCV001843078]|Long QT syndrome [RCV002068281] Chr7:150951539 [GRCh38]
Chr7:150648627 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1558-10T>C single nucleotide variant Cardiac arrhythmia [RCV001843082] Chr7:150951845 [GRCh38]
Chr7:150648933 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1231G>A (p.Asp411Asn) single nucleotide variant Long QT syndrome [RCV001211435] Chr7:150952751 [GRCh38]
Chr7:150649839 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.275G>C (p.Arg92Pro) single nucleotide variant Long QT syndrome [RCV001218783] Chr7:150974743 [GRCh38]
Chr7:150671831 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3279_3280delinsAA (p.Leu1094Met) indel Long QT syndrome [RCV001235898] Chr7:150946927..150946928 [GRCh38]
Chr7:150644015..150644016 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.409A>G (p.Met137Val) single nucleotide variant Short QT syndrome type 1 [RCV001197012] Chr7:150959635 [GRCh38]
Chr7:150656723 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2042G>A (p.Arg681Gln) single nucleotide variant Long QT syndrome [RCV001230258] Chr7:150951024 [GRCh38]
Chr7:150648112 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.232_250del (p.Ala78fs) deletion Long QT syndrome 2 [RCV000853608] Chr7:150974768..150974786 [GRCh38]
Chr7:150671856..150671874 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:150642453-150656824)x1 copy number loss not provided [RCV000998977] Chr7:150642453..150656824 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.825C>G (p.Ser275Arg) single nucleotide variant Long QT syndrome 2 [RCV001164704] Chr7:150958150 [GRCh38]
Chr7:150655238 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.684G>A (p.Ala228=) single nucleotide variant Cardiovascular phenotype [RCV002365811]|Long QT syndrome 2 [RCV001164707]|Long QT syndrome [RCV001231582]|Short QT syndrome type 1 [RCV002497593] Chr7:150958291 [GRCh38]
Chr7:150655379 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2794T>C (p.Ser932Pro) single nucleotide variant Long QT syndrome [RCV001212632] Chr7:150947777 [GRCh38]
Chr7:150644865 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.908C>G (p.Ala303Gly) single nucleotide variant Long QT syndrome [RCV001230159] Chr7:150958067 [GRCh38]
Chr7:150655155 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1284G>A (p.Ser428=) single nucleotide variant Cardiac arrhythmia [RCV001843164]|Cardiovascular phenotype [RCV002379709]|Long QT syndrome [RCV001227683]|not provided [RCV001707864] Chr7:150952698 [GRCh38]
Chr7:150649786 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance
NM_000238.4(KCNH2):c.1600C>G (p.Arg534Gly) single nucleotide variant Long QT syndrome 2 [RCV001159681] Chr7:150951793 [GRCh38]
Chr7:150648881 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.246C>T (p.Ile82=) single nucleotide variant Cardiac arrhythmia [RCV001843175]|Long QT syndrome [RCV003532884] Chr7:150974772 [GRCh38]
Chr7:150671860 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3019C>T (p.Arg1007Cys) single nucleotide variant Cardiac arrhythmia [RCV001842652]|Cardiovascular phenotype [RCV002436735]|Long QT syndrome [RCV003532881]|not provided [RCV003457941] Chr7:150947461 [GRCh38]
Chr7:150644549 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1391T>C (p.Ile464Thr) single nucleotide variant Cardiac arrhythmia [RCV001842678] Chr7:150952591 [GRCh38]
Chr7:150649679 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1645G>A (p.Val549Met) single nucleotide variant Cardiac arrhythmia [RCV001842720] Chr7:150951748 [GRCh38]
Chr7:150648836 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter) single nucleotide variant Long QT syndrome 2 [RCV001248798] Chr7:150952753 [GRCh38]
Chr7:150649841 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3277_3278del (p.Pro1093fs) deletion Long QT syndrome [RCV003126316] Chr7:150946929..150946930 [GRCh38]
Chr7:150644017..150644018 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.472+117dup duplication not provided [RCV001546832] Chr7:150959454..150959455 [GRCh38]
Chr7:150656542..150656543 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2737G>A (p.Ala913Thr) single nucleotide variant not provided [RCV001548575] Chr7:150947834 [GRCh38]
Chr7:150644922 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.687G>T (p.Glu229Asp) single nucleotide variant not provided [RCV003318111] Chr7:150958288 [GRCh38]
Chr7:150655376 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2145+96dup duplication not provided [RCV001715600] Chr7:150950824..150950825 [GRCh38]
Chr7:150647912..150647913 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.307+30C>T single nucleotide variant not provided [RCV001652684] Chr7:150974681 [GRCh38]
Chr7:150671769 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2399-204C>A single nucleotide variant not provided [RCV001585290] Chr7:150949253 [GRCh38]
Chr7:150646341 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1858A>G (p.Ser620Gly) single nucleotide variant not provided [RCV001549582] Chr7:150951535 [GRCh38]
Chr7:150648623 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3153-59C>G single nucleotide variant not provided [RCV001553502] Chr7:150947113 [GRCh38]
Chr7:150644201 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2145+98dup duplication not provided [RCV001715601] Chr7:150950822..150950823 [GRCh38]
Chr7:150647910..150647911 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2217C>T (p.His739=) single nucleotide variant Cardiovascular phenotype [RCV002421244]|not provided [RCV001715603] Chr7:150950349 [GRCh38]
Chr7:150647437 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2398+328C>T single nucleotide variant not provided [RCV001715606] Chr7:150949840 [GRCh38]
Chr7:150646928 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.307+182C>A single nucleotide variant not provided [RCV001549998] Chr7:150974529 [GRCh38]
Chr7:150671617 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1986C>T (p.Ile662=) single nucleotide variant not provided [RCV001597341] Chr7:150951080 [GRCh38]
Chr7:150648168 [GRCh37]
Chr7:7q36.1		 benign
NC_000007.14:g.150978411dup duplication not provided [RCV001671142] Chr7:150978402..150978403 [GRCh38]
Chr7:150675490..150675491 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.1128+233A>G single nucleotide variant not provided [RCV001713232] Chr7:150957058 [GRCh38]
Chr7:150654146 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2693-57C>T single nucleotide variant not provided [RCV001635979] Chr7:150947935 [GRCh38]
Chr7:150645023 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.917-34G>A single nucleotide variant not provided [RCV001671836] Chr7:150957536 [GRCh38]
Chr7:150654624 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.959C>A (p.Ser320Ter) single nucleotide variant not provided [RCV001593510] Chr7:150957460 [GRCh38]
Chr7:150654548 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.1425C>A (p.Tyr475Ter) single nucleotide variant Long QT syndrome 2 [RCV001534616] Chr7:150952557 [GRCh38]
Chr7:150649645 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr) single nucleotide variant Long QT syndrome 2 [RCV002471123]|not provided [RCV001561645] Chr7:150974786 [GRCh38]
Chr7:150671874 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.917-33dup duplication not provided [RCV001674787] Chr7:150957534..150957535 [GRCh38]
Chr7:150654622..150654623 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2146-61A>G single nucleotide variant not provided [RCV001644375] Chr7:150950481 [GRCh38]
Chr7:150647569 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.1946-19C>T single nucleotide variant Long QT syndrome [RCV002073339]|not provided [RCV001716732] Chr7:150951139 [GRCh38]
Chr7:150648227 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.1572G>A (p.Leu524=) single nucleotide variant Cardiac arrhythmia [RCV001842546]|Cardiovascular phenotype [RCV002399939]|Long QT syndrome [RCV000872742]|not provided [RCV001712819] Chr7:150951821 [GRCh38]
Chr7:150648909 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1458C>T (p.Pro486=) single nucleotide variant Cardiac arrhythmia [RCV001842547]|Cardiovascular phenotype [RCV003307641]|Long QT syndrome [RCV001087119] Chr7:150952524 [GRCh38]
Chr7:150649612 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.120C>T (p.Ala40=) single nucleotide variant Cardiac arrhythmia [RCV001842550]|Cardiovascular phenotype [RCV002354686]|Long QT syndrome [RCV000874152] Chr7:150974898 [GRCh38]
Chr7:150671986 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3051C>T (p.Ala1017=) single nucleotide variant Long QT syndrome [RCV000930924] Chr7:150947429 [GRCh38]
Chr7:150644517 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2965+7C>G single nucleotide variant not provided [RCV000931648] Chr7:150947599 [GRCh38]
Chr7:150644687 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3456A>G (p.Arg1152=) single nucleotide variant Long QT syndrome [RCV000930351] Chr7:150945389 [GRCh38]
Chr7:150642477 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs) duplication Long QT syndrome 2 [RCV000853604] Chr7:150947377..150947378 [GRCh38]
Chr7:150644465..150644466 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.33G>A (p.Gln11=) single nucleotide variant Cardiac arrhythmia [RCV001842558]|Long QT syndrome [RCV000886662] Chr7:150977881 [GRCh38]
Chr7:150674969 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2142C>T (p.Asn714=) single nucleotide variant Cardiac arrhythmia [RCV001842532]|Long QT syndrome [RCV000866746]|not provided [RCV001545471] Chr7:150950924 [GRCh38]
Chr7:150648012 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2325G>C (p.Leu775=) single nucleotide variant Long QT syndrome [RCV001401951] Chr7:150950241 [GRCh38]
Chr7:150647329 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.76+10G>A single nucleotide variant Long QT syndrome [RCV000930685] Chr7:150977828 [GRCh38]
Chr7:150674916 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2445T>C (p.Pro815=) single nucleotide variant Cardiac arrhythmia [RCV001842026]|Cardiovascular phenotype [RCV002453943]|Long QT syndrome [RCV001395247] Chr7:150949003 [GRCh38]
Chr7:150646091 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1869C>T single nucleotide variant Cardiac arrhythmia [RCV001842020]|Long QT syndrome [RCV000861582]|not provided [RCV002279567] Chr7:150955422 [GRCh38]
Chr7:150652510 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1401C>T (p.Ile467=) single nucleotide variant Long QT syndrome [RCV001466752] Chr7:150952581 [GRCh38]
Chr7:150649669 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.111G>A (p.Glu37=) single nucleotide variant Long QT syndrome [RCV001429634] Chr7:150974907 [GRCh38]
Chr7:150671995 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.867G>A (p.Glu289=) single nucleotide variant Cardiovascular phenotype [RCV002372422]|Long QT syndrome [RCV000865712] Chr7:150958108 [GRCh38]
Chr7:150655196 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2769G>T (p.Pro923=) single nucleotide variant Cardiac arrhythmia [RCV001842575]|Long QT syndrome [RCV000954212] Chr7:150947802 [GRCh38]
Chr7:150644890 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2769_2771delinsAGC (p.Gly924Ala) indel Cardiac arrhythmia [RCV001843053]|Cardiovascular phenotype [RCV002436744] Chr7:150947800..150947802 [GRCh38]
Chr7:150644888..150644890 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3021C>T (p.Arg1007=) single nucleotide variant Cardiac arrhythmia [RCV001840983]|Long QT syndrome [RCV001242980] Chr7:150947459 [GRCh38]
Chr7:150644547 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2926G>A (p.Asp976Asn) single nucleotide variant Cardiac arrhythmia [RCV001841174]|Long QT syndrome [RCV001212820]|not provided [RCV003233989] Chr7:150947645 [GRCh38]
Chr7:150644733 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.629T>C (p.Leu210Pro) single nucleotide variant Long QT syndrome [RCV001207510] Chr7:150958346 [GRCh38]
Chr7:150655434 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2803C>G (p.Pro935Ala) single nucleotide variant Cardiac arrhythmia [RCV001843133] Chr7:150947768 [GRCh38]
Chr7:150644856 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.972C>T (p.Leu324=) single nucleotide variant Cardiac arrhythmia [RCV001840997]|Cardiovascular phenotype [RCV003353198]|Long QT syndrome [RCV001427318] Chr7:150957447 [GRCh38]
Chr7:150654535 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.638A>G (p.Asp213Gly) single nucleotide variant Long QT syndrome [RCV001247495] Chr7:150958337 [GRCh38]
Chr7:150655425 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2312A>C (p.His771Pro) single nucleotide variant Long QT syndrome [RCV001239029] Chr7:150950254 [GRCh38]
Chr7:150647342 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2167T>G (p.Cys723Gly) single nucleotide variant Cardiac arrhythmia [RCV001843153] Chr7:150950399 [GRCh38]
Chr7:150647487 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1134G>A (p.Leu378=) single nucleotide variant Cardiac arrhythmia [RCV001842632] Chr7:150952848 [GRCh38]
Chr7:150649936 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2966-8G>T single nucleotide variant Cardiac arrhythmia [RCV001843060] Chr7:150947522 [GRCh38]
Chr7:150644610 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1803G>T single nucleotide variant Cardiac arrhythmia [RCV001841010] Chr7:150955488 [GRCh38]
Chr7:150652576 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.941G>A (p.Gly314Asp) single nucleotide variant Cardiac arrhythmia [RCV001841012]|Cardiovascular phenotype [RCV003284029] Chr7:150957478 [GRCh38]
Chr7:150654566 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2594C>T (p.Thr865Ile) single nucleotide variant Cardiovascular phenotype [RCV002429984]|Long QT syndrome [RCV001230149] Chr7:150948542 [GRCh38]
Chr7:150645630 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2676C>A (p.Arg892=) single nucleotide variant Cardiac arrhythmia [RCV001841021] Chr7:150948460 [GRCh38]
Chr7:150645548 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3252G>A (p.Pro1084=) single nucleotide variant Cardiac arrhythmia [RCV001841022]|Long QT syndrome [RCV002560002] Chr7:150946955 [GRCh38]
Chr7:150644043 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.731C>A (p.Ala244Glu) single nucleotide variant Long QT syndrome [RCV001244870] Chr7:150958244 [GRCh38]
Chr7:150655332 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.928C>A (p.Pro310Thr) single nucleotide variant Cardiac arrhythmia [RCV001841029] Chr7:150957491 [GRCh38]
Chr7:150654579 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1899C>T (p.Asn633=) single nucleotide variant Cardiac arrhythmia [RCV001841030] Chr7:150951494 [GRCh38]
Chr7:150648582 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.-7G>A single nucleotide variant Cardiac arrhythmia [RCV001841035] Chr7:150977920 [GRCh38]
Chr7:150675008 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1425C>T (p.Tyr475=) single nucleotide variant Cardiac arrhythmia [RCV001841036]|Cardiovascular phenotype [RCV003380866]|Long QT syndrome [RCV001470506] Chr7:150952557 [GRCh38]
Chr7:150649645 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3171T>C (p.Ser1057=) single nucleotide variant Long QT syndrome 2 [RCV001164502] Chr7:150947036 [GRCh38]
Chr7:150644124 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1771G>A (p.Asp591Asn) single nucleotide variant Cardiac arrhythmia [RCV001842616]|Long QT syndrome 2 [RCV001164594]|Long QT syndrome [RCV001231762] Chr7:150951622 [GRCh38]
Chr7:150648710 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2965+11C>T single nucleotide variant Long QT syndrome 2 [RCV001159569]|Long QT syndrome [RCV001859035] Chr7:150947595 [GRCh38]
Chr7:150644683 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2908G>A (p.Gly970Arg) single nucleotide variant Cardiac arrhythmia [RCV001841042]|Cardiovascular phenotype [RCV002436759] Chr7:150947663 [GRCh38]
Chr7:150644751 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1725G>A (p.Glu575=) single nucleotide variant Cardiac arrhythmia [RCV001841049]|Long QT syndrome [RCV003770123] Chr7:150951668 [GRCh38]
Chr7:150648756 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3138G>T (p.Gln1046His) single nucleotide variant Cardiac arrhythmia [RCV001841057] Chr7:150947342 [GRCh38]
Chr7:150644430 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2760G>C (p.Arg920=) single nucleotide variant Cardiac arrhythmia [RCV001841059]|Long QT syndrome [RCV002560032] Chr7:150947811 [GRCh38]
Chr7:150644899 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2562C>T (p.Ser854=) single nucleotide variant Cardiac arrhythmia [RCV001841063]|Long QT syndrome [RCV002069053] Chr7:150948886 [GRCh38]
Chr7:150645974 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.774_780del (p.Asp259fs) deletion Long QT syndrome [RCV001036510] Chr7:150958195..150958201 [GRCh38]
Chr7:150655283..150655289 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2968G>A (p.Ala990Thr) single nucleotide variant Cardiac arrhythmia [RCV001841193]|Long QT syndrome [RCV001243410]|Short QT syndrome type 1 [RCV002484344] Chr7:150947512 [GRCh38]
Chr7:150644600 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3263C>G (p.Pro1088Arg) single nucleotide variant Long QT syndrome [RCV001227449] Chr7:150946944 [GRCh38]
Chr7:150644032 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter) single nucleotide variant Long QT syndrome 2 [RCV003485690]|Long QT syndrome [RCV001243526] Chr7:150957416 [GRCh38]
Chr7:150654504 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.3467A>G (p.Asp1156Gly) single nucleotide variant Cardiac arrhythmia [RCV001841070] Chr7:150945378 [GRCh38]
Chr7:150642466 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.435C>T (p.Thr145=) single nucleotide variant Cardiac arrhythmia [RCV001841074]|Long QT syndrome [RCV003532888] Chr7:150959609 [GRCh38]
Chr7:150656697 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2785del (p.Glu929fs) deletion Long QT syndrome [RCV001248443] Chr7:150947786 [GRCh38]
Chr7:150644874 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2092G>A (p.Glu698Lys) single nucleotide variant Long QT syndrome 2 [RCV002272414]|Long QT syndrome [RCV001216718]|not provided [RCV001559468] Chr7:150950974 [GRCh38]
Chr7:150648062 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3089C>T (p.Pro1030Leu) single nucleotide variant Cardiac arrhythmia [RCV001842600]|Cardiovascular phenotype [RCV002320285]|Long QT syndrome [RCV001051108]|Short QT syndrome type 1 [RCV002479315]|not provided [RCV001562640] Chr7:150947391 [GRCh38]
Chr7:150644479 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2398+98G>A single nucleotide variant Cardiac arrhythmia [RCV001842663]|not provided [RCV001549294] Chr7:150950070 [GRCh38]
Chr7:150647158 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1197del (p.Ile400fs) deletion Long QT syndrome [RCV001208821] Chr7:150952785 [GRCh38]
Chr7:150649873 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3379C>T (p.Leu1127Phe) single nucleotide variant Cardiac arrhythmia [RCV001843220]|Long QT syndrome [RCV002560857] Chr7:150945466 [GRCh38]
Chr7:150642554 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3064CTC[1] (p.Leu1023del) microsatellite Cardiac arrhythmia [RCV001843227]|Long QT syndrome [RCV001224127] Chr7:150947411..150947413 [GRCh38]
Chr7:150644499..150644501 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3315G>C (p.Leu1105Phe) single nucleotide variant Cardiac arrhythmia [RCV001841087] Chr7:150946892 [GRCh38]
Chr7:150643980 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2966-14CT[2] microsatellite Cardiac arrhythmia [RCV001841091] Chr7:150947523..150947524 [GRCh38]
Chr7:150644611..150644612 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1621C>T (p.Arg541Cys) single nucleotide variant Cardiac arrhythmia [RCV001841184]|Long QT syndrome [RCV001206042]|Short QT syndrome type 1 [RCV002491623] Chr7:150951772 [GRCh38]
Chr7:150648860 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2292G>A (p.Pro764=) single nucleotide variant Cardiac arrhythmia [RCV001842654]|Cardiovascular phenotype [RCV003293924]|Long QT syndrome [RCV001875818]|not provided [RCV002512143] Chr7:150950274 [GRCh38]
Chr7:150647362 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2482T>C (p.Cys828Arg) single nucleotide variant Long QT syndrome 2 [RCV002471013]|Long QT syndrome [RCV001044616]|not specified [RCV003235454] Chr7:150948966 [GRCh38]
Chr7:150646054 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2437G>A (p.Ala813Thr) single nucleotide variant not specified [RCV001192536] Chr7:150949011 [GRCh38]
Chr7:150646099 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.165G>A (p.Ser55=) single nucleotide variant Cardiac arrhythmia [RCV001841099] Chr7:150974853 [GRCh38]
Chr7:150671941 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.707G>A (p.Gly236Asp) single nucleotide variant Long QT syndrome [RCV001224330] Chr7:150958268 [GRCh38]
Chr7:150655356 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3153G>T (p.Arg1051Ser) single nucleotide variant Cardiovascular phenotype [RCV002322088]|Long QT syndrome [RCV001224349] Chr7:150947054 [GRCh38]
Chr7:150644142 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1357G>A (p.Ala453Thr) single nucleotide variant Cardiac arrhythmia [RCV001842727] Chr7:150952625 [GRCh38]
Chr7:150649713 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1242C>T (p.Ile414=) single nucleotide variant Cardiac arrhythmia [RCV001841105]|Cardiovascular phenotype [RCV002379733]|Long QT syndrome [RCV001411395] Chr7:150952740 [GRCh38]
Chr7:150649828 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3041G>A (p.Arg1014Gln) single nucleotide variant Cardiac arrhythmia [RCV001843125]|Long QT syndrome [RCV001348406]|not provided [RCV001751326] Chr7:150947439 [GRCh38]
Chr7:150644527 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2857C>T (p.Leu953Phe) single nucleotide variant Cardiac arrhythmia [RCV001843263] Chr7:150947714 [GRCh38]
Chr7:150644802 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+1827C>T single nucleotide variant Cardiac arrhythmia [RCV001842743] Chr7:150955464 [GRCh38]
Chr7:150652552 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter) single nucleotide variant Cardiac arrhythmia [RCV001841113]|Cardiovascular phenotype [RCV002429839] Chr7:150947870 [GRCh38]
Chr7:150644958 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.1009A>G (p.Thr337Ala) single nucleotide variant Cardiac arrhythmia [RCV001841127] Chr7:150957410 [GRCh38]
Chr7:150654498 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3153-6C>T single nucleotide variant Cardiac arrhythmia [RCV001841130]|Long QT syndrome [RCV002069141] Chr7:150947060 [GRCh38]
Chr7:150644148 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.-3A>G single nucleotide variant Cardiac arrhythmia [RCV001842635] Chr7:150977916 [GRCh38]
Chr7:150675004 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.56T>G (p.Ile19Ser) single nucleotide variant Long QT syndrome [RCV001221141] Chr7:150977858 [GRCh38]
Chr7:150674946 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.589G>A (p.Asp197Asn) single nucleotide variant Long QT syndrome [RCV001224878] Chr7:150958386 [GRCh38]
Chr7:150655474 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2398+210C>T single nucleotide variant Cardiac arrhythmia [RCV001843278] Chr7:150949958 [GRCh38]
Chr7:150647046 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2635G>A (p.Gly879Ser) single nucleotide variant Cardiac arrhythmia [RCV001843282] Chr7:150948501 [GRCh38]
Chr7:150645589 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1558-10_1558-5dup duplication Cardiac arrhythmia [RCV001841132] Chr7:150951839..150951840 [GRCh38]
Chr7:150648927..150648928 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2906G>A (p.Gly969Asp) single nucleotide variant Cardiac arrhythmia [RCV001842648] Chr7:150947665 [GRCh38]
Chr7:150644753 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2670C>T (p.Ser890=) single nucleotide variant Cardiac arrhythmia [RCV001843212] Chr7:150948466 [GRCh38]
Chr7:150645554 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2746G>A (p.Gly916Arg) single nucleotide variant Cardiac arrhythmia [RCV001843289] Chr7:150947825 [GRCh38]
Chr7:150644913 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1240A>G (p.Ile414Val) single nucleotide variant Cardiac arrhythmia [RCV001843296] Chr7:150952742 [GRCh38]
Chr7:150649830 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.391G>T (p.Val131Leu) single nucleotide variant Cardiac arrhythmia [RCV001841147]|Long QT syndrome [RCV001298202]|not provided [RCV001574901] Chr7:150959653 [GRCh38]
Chr7:150656741 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1710C>T (p.Ala570=) single nucleotide variant Cardiac arrhythmia [RCV001842701] Chr7:150951683 [GRCh38]
Chr7:150648771 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2291C>G (p.Pro764Arg) single nucleotide variant Long QT syndrome [RCV001227965] Chr7:150950275 [GRCh38]
Chr7:150647363 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1017C>T (p.Asn339=) single nucleotide variant Cardiac arrhythmia [RCV001842772]|Long QT syndrome [RCV001402752] Chr7:150957402 [GRCh38]
Chr7:150654490 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2943C>T (p.Ser981=) single nucleotide variant Cardiac arrhythmia [RCV001842774]|Cardiovascular phenotype [RCV002436743]|Long QT syndrome [RCV001493063] Chr7:150947628 [GRCh38]
Chr7:150644716 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.243G>A (p.Gln81=) single nucleotide variant Cardiac arrhythmia [RCV001841149]|Long QT syndrome [RCV002069167] Chr7:150974775 [GRCh38]
Chr7:150671863 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1926C>A (p.Ile642=) single nucleotide variant Cardiac arrhythmia [RCV001841150] Chr7:150951467 [GRCh38]
Chr7:150648555 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.76A>G (p.Ser26Gly) single nucleotide variant Cardiac arrhythmia [RCV001841151]|Long QT syndrome [RCV002560988] Chr7:150977838 [GRCh38]
Chr7:150674926 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1476C>T (p.His492=) single nucleotide variant Cardiac arrhythmia [RCV001841152]|Long QT syndrome [RCV003770167] Chr7:150952506 [GRCh38]
Chr7:150649594 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.249G>T (p.Ala83=) single nucleotide variant Cardiac arrhythmia [RCV001841161] Chr7:150974769 [GRCh38]
Chr7:150671857 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1164C>T (p.Tyr388=) single nucleotide variant Cardiac arrhythmia [RCV001843251] Chr7:150952818 [GRCh38]
Chr7:150649906 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2398+254del deletion Cardiac arrhythmia [RCV001843255] Chr7:150949914 [GRCh38]
Chr7:150647002 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1129-2_1145dup duplication Long QT syndrome [RCV001235221] Chr7:150952836..150952837 [GRCh38]
Chr7:150649924..150649925 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.120C>G (p.Ala40=) single nucleotide variant Cardiovascular phenotype [RCV002354802]|not provided [RCV000935898] Chr7:150974898 [GRCh38]
Chr7:150671986 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.473-5del deletion not provided [RCV000998947] Chr7:150958507 [GRCh38]
Chr7:150655595 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.819A>T (p.Arg273=) single nucleotide variant Cardiovascular phenotype [RCV002427272]|Long QT syndrome [RCV000912727] Chr7:150958156 [GRCh38]
Chr7:150655244 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2593-120G>C single nucleotide variant not provided [RCV001556621] Chr7:150948663 [GRCh38]
Chr7:150645751 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.76+37T>G single nucleotide variant not provided [RCV001548189] Chr7:150977801 [GRCh38]
Chr7:150674889 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1188G>A single nucleotide variant not provided [RCV001563372] Chr7:150956103 [GRCh38]
Chr7:150653191 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.46G>C (p.Asp16His) single nucleotide variant not provided [RCV003234472] Chr7:150977868 [GRCh38]
Chr7:150674956 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+2019G>A single nucleotide variant not provided [RCV001570955] Chr7:150955272 [GRCh38]
Chr7:150652360 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1945+96dup duplication not provided [RCV001644052] Chr7:150951351..150951352 [GRCh38]
Chr7:150648439..150648440 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.3032del (p.Glu1011fs) deletion not provided [RCV001553294] Chr7:150947448 [GRCh38]
Chr7:150644536 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1558-63C>G single nucleotide variant not provided [RCV001635948] Chr7:150951898 [GRCh38]
Chr7:150648986 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.44T>G (p.Leu15Arg) single nucleotide variant Long QT syndrome [RCV003647841]|not provided [RCV001574396] Chr7:150977870 [GRCh38]
Chr7:150674958 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1015A>T (p.Asn339Tyr) single nucleotide variant Long QT syndrome 2 [RCV002471651] Chr7:150957404 [GRCh38]
Chr7:150654492 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1557+111GAGAAAGA[3] microsatellite not provided [RCV001599171] Chr7:150952298..150952299 [GRCh38]
Chr7:150649386..150649387 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.473-34A>G single nucleotide variant not provided [RCV001716729] Chr7:150958536 [GRCh38]
Chr7:150655624 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.1946-63G>C single nucleotide variant not provided [RCV001637215] Chr7:150951183 [GRCh38]
Chr7:150648271 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2398+353T>C single nucleotide variant not provided [RCV001660734] Chr7:150949815 [GRCh38]
Chr7:150646903 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.3133_3136del (p.Leu1045fs) deletion not provided [RCV001008765] Chr7:150947344..150947347 [GRCh38]
Chr7:150644432..150644435 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.916+15G>A single nucleotide variant not provided [RCV001597870] Chr7:150958044 [GRCh38]
Chr7:150655132 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.1102del (p.His368fs) deletion Long QT syndrome 2 [RCV001089533]|not provided [RCV001009320] Chr7:150957317 [GRCh38]
Chr7:150654405 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2965+12G>A single nucleotide variant Long QT syndrome [RCV002072942]|not provided [RCV001619461] Chr7:150947594 [GRCh38]
Chr7:150644682 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.-21_-20insT insertion not provided [RCV001715594] Chr7:150977933..150977934 [GRCh38]
Chr7:150675021..150675022 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.917-53G>A single nucleotide variant not provided [RCV001715597] Chr7:150957555 [GRCh38]
Chr7:150654643 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2774_2775delinsT (p.Gly925fs) indel Cardiovascular phenotype [RCV002440826]|not provided [RCV001590490] Chr7:150947796..150947797 [GRCh38]
Chr7:150644884..150644885 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2692+13A>G single nucleotide variant not provided [RCV001635653] Chr7:150948431 [GRCh38]
Chr7:150645519 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.1128+1271C>T single nucleotide variant not provided [RCV001548582] Chr7:150956020 [GRCh38]
Chr7:150653108 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2399-61T>C single nucleotide variant not provided [RCV001656246] Chr7:150949110 [GRCh38]
Chr7:150646198 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.1128+55del deletion not provided [RCV001636083] Chr7:150957236 [GRCh38]
Chr7:150654324 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2433G>A (p.Leu811=) single nucleotide variant Long QT syndrome [RCV002073007]|not provided [RCV001649641] Chr7:150949015 [GRCh38]
Chr7:150646103 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.3392G>T (p.Gly1131Val) single nucleotide variant Cardiac arrhythmia [RCV001842633]|Long QT syndrome [RCV001875790] Chr7:150945453 [GRCh38]
Chr7:150642541 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2454G>C (p.Ser818=) single nucleotide variant Cardiac arrhythmia [RCV001843186]|Long QT syndrome [RCV003532885] Chr7:150948994 [GRCh38]
Chr7:150646082 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3346G>A (p.Ala1116Thr) single nucleotide variant Cardiac arrhythmia [RCV001842662] Chr7:150945499 [GRCh38]
Chr7:150642587 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.307+6A>G single nucleotide variant Cardiac arrhythmia [RCV001843214]|Long QT syndrome [RCV002559056] Chr7:150974705 [GRCh38]
Chr7:150671793 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2931C>G (p.Cys977Trp) single nucleotide variant Cardiac arrhythmia [RCV001842685]|Short QT syndrome type 1 [RCV002491506] Chr7:150947640 [GRCh38]
Chr7:150644728 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2875T>A (p.Ser959Thr) single nucleotide variant Cardiac arrhythmia [RCV001843063] Chr7:150947696 [GRCh38]
Chr7:150644784 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2593-7G>A single nucleotide variant Cardiac arrhythmia [RCV001841007]|Long QT syndrome [RCV001859125] Chr7:150948550 [GRCh38]
Chr7:150645638 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2196G>T (p.Leu732=) single nucleotide variant Cardiac arrhythmia [RCV001843064] Chr7:150950370 [GRCh38]
Chr7:150647458 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2398+108C>T single nucleotide variant Cardiac arrhythmia [RCV001841011] Chr7:150950060 [GRCh38]
Chr7:150647148 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.939C>T (p.Ser313=) single nucleotide variant Cardiac arrhythmia [RCV001841015]|Cardiovascular phenotype [RCV002375096]|Long QT syndrome [RCV002068483]|not provided [RCV001615135] Chr7:150957480 [GRCh38]
Chr7:150654568 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.-174G>A single nucleotide variant Long QT syndrome 2 [RCV001161194] Chr7:150978087 [GRCh38]
Chr7:150675175 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3120C>T (p.Ser1040=) single nucleotide variant Cardiac arrhythmia [RCV001843224]|Long QT syndrome [RCV002068393] Chr7:150947360 [GRCh38]
Chr7:150644448 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.917-10C>T single nucleotide variant Cardiac arrhythmia [RCV001842697]|Long QT syndrome [RCV002068199] Chr7:150957512 [GRCh38]
Chr7:150654600 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2693-13_2693-12del microsatellite Cardiac arrhythmia [RCV001842698] Chr7:150947890..150947891 [GRCh38]
Chr7:150644978..150644979 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1470C>T (p.Ala490=) single nucleotide variant Cardiac arrhythmia [RCV001841017]|Long QT syndrome [RCV001479959] Chr7:150952512 [GRCh38]
Chr7:150649600 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2795C>T (p.Ser932Phe) single nucleotide variant Cardiac arrhythmia [RCV001841023]|Long QT syndrome [RCV002560917] Chr7:150947776 [GRCh38]
Chr7:150644864 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.-28_-7del deletion Cardiac arrhythmia [RCV001841027] Chr7:150977920..150977941 [GRCh38]
Chr7:150675008..150675029 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.-11A>G single nucleotide variant Cardiac arrhythmia [RCV001842709] Chr7:150977924 [GRCh38]
Chr7:150675012 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1342G>A (p.Ala448Thr) single nucleotide variant Cardiac arrhythmia [RCV001843242]|Long QT syndrome [RCV002559080] Chr7:150952640 [GRCh38]
Chr7:150649728 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+1821G>T single nucleotide variant Cardiac arrhythmia [RCV001841037] Chr7:150955470 [GRCh38]
Chr7:150652558 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2785G>C (p.Glu929Gln) single nucleotide variant Cardiac arrhythmia [RCV001841046] Chr7:150947786 [GRCh38]
Chr7:150644874 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1745G>A (p.Arg582His) single nucleotide variant Cardiac arrhythmia [RCV001841048]|Long QT syndrome [RCV001365246] Chr7:150951648 [GRCh38]
Chr7:150648736 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.829G>T (p.Ala277Ser) single nucleotide variant Long QT syndrome [RCV001035113] Chr7:150958146 [GRCh38]
Chr7:150655234 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.147C>T (p.Cys49=) single nucleotide variant Cardiac arrhythmia [RCV001842722]|Long QT syndrome [RCV001875883] Chr7:150974871 [GRCh38]
Chr7:150671959 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2231G>A (p.Arg744Gln) single nucleotide variant Cardiac arrhythmia [RCV001843253]|Cardiovascular phenotype [RCV002418629]|Long QT syndrome [RCV003532887]|Short QT syndrome type 1 [RCV002491546] Chr7:150950335 [GRCh38]
Chr7:150647423 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1524C>T (p.Phe508=) single nucleotide variant Cardiac arrhythmia [RCV001841052]|Cardiovascular phenotype [RCV002393434]|Long QT syndrome [RCV001476785] Chr7:150952458 [GRCh38]
Chr7:150649546 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2913G>T (p.Glu971Asp) single nucleotide variant Cardiac arrhythmia [RCV001841053] Chr7:150947658 [GRCh38]
Chr7:150644746 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.-12C>T single nucleotide variant Cardiac arrhythmia [RCV001841054] Chr7:150977925 [GRCh38]
Chr7:150675013 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2668T>C (p.Ser890Pro) single nucleotide variant Cardiac arrhythmia [RCV001841055] Chr7:150948468 [GRCh38]
Chr7:150645556 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1982C>T (p.Ala661Val) single nucleotide variant Sudden cardiac arrest [RCV001254768] Chr7:150951084 [GRCh38]
Chr7:150648172 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2695A>T (p.Thr899Ser) single nucleotide variant Cardiac arrhythmia [RCV001842732]|Long QT syndrome [RCV002558880] Chr7:150947876 [GRCh38]
Chr7:150644964 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2659C>G (p.Arg887Gly) single nucleotide variant Cardiac arrhythmia [RCV001843259]|Long QT syndrome [RCV001358807]|Short QT syndrome type 1 [RCV002484014] Chr7:150948477 [GRCh38]
Chr7:150645565 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2398+112G>T single nucleotide variant Cardiac arrhythmia [RCV001841069] Chr7:150950056 [GRCh38]
Chr7:150647144 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2906G>T (p.Gly969Val) single nucleotide variant Cardiac arrhythmia [RCV001841080] Chr7:150947665 [GRCh38]
Chr7:150644753 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2889C>A (p.Pro963=) single nucleotide variant Cardiac arrhythmia [RCV001843268] Chr7:150947682 [GRCh38]
Chr7:150644770 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1946-11C>T single nucleotide variant Cardiac arrhythmia [RCV001842741] Chr7:150951131 [GRCh38]
Chr7:150648219 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2398+162A>G single nucleotide variant Cardiac arrhythmia [RCV001842742] Chr7:150950006 [GRCh38]
Chr7:150647094 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1410C>T (p.Asn470=) single nucleotide variant Cardiac arrhythmia [RCV001843102] Chr7:150952572 [GRCh38]
Chr7:150649660 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.877G>A (p.Ala293Thr) single nucleotide variant Cardiovascular phenotype [RCV002375005]|Long QT syndrome [RCV001071911] Chr7:150958098 [GRCh38]
Chr7:150655186 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1329C>T (p.Thr443=) single nucleotide variant Cardiac arrhythmia [RCV001843249]|Long QT syndrome [RCV002067957] Chr7:150952653 [GRCh38]
Chr7:150649741 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1812C>T (p.Gly604=) single nucleotide variant Cardiac arrhythmia [RCV001841089]|Cardiovascular phenotype [RCV002411713]|Long QT syndrome [RCV001440642] Chr7:150951581 [GRCh38]
Chr7:150648669 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3276C>T (p.Ser1092=) single nucleotide variant Cardiac arrhythmia [RCV001841092]|Cardiovascular phenotype [RCV002447024]|Long QT syndrome [RCV002069083] Chr7:150946931 [GRCh38]
Chr7:150644019 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3361C>T (p.Pro1121Ser) single nucleotide variant Cardiac arrhythmia [RCV001842748]|Long QT syndrome [RCV001205951] Chr7:150945484 [GRCh38]
Chr7:150642572 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3178A>G (p.Met1060Val) single nucleotide variant Cardiac arrhythmia [RCV001843275]|Long QT syndrome [RCV001876180] Chr7:150947029 [GRCh38]
Chr7:150644117 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.87C>T (p.Phe29=) single nucleotide variant Cardiac arrhythmia [RCV001842750]|Long QT syndrome [RCV001492804] Chr7:150974931 [GRCh38]
Chr7:150672019 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3006G>T (p.Gly1002=) single nucleotide variant Cardiac arrhythmia [RCV001841103] Chr7:150947474 [GRCh38]
Chr7:150644562 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.391G>A (p.Val131Met) single nucleotide variant Cardiac arrhythmia [RCV001842755] Chr7:150959653 [GRCh38]
Chr7:150656741 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2036G>A (p.Arg679Gln) single nucleotide variant Cardiac arrhythmia [RCV001843137] Chr7:150951030 [GRCh38]
Chr7:150648118 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2398+181G>A single nucleotide variant Cardiac arrhythmia [RCV001841106] Chr7:150949987 [GRCh38]
Chr7:150647075 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2589A>G (p.Arg863=) single nucleotide variant Cardiac arrhythmia [RCV001841111]|Long QT syndrome [RCV001480284] Chr7:150948859 [GRCh38]
Chr7:150645947 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.219C>A (p.Arg73=) single nucleotide variant Cardiac arrhythmia [RCV001841112]|Long QT syndrome [RCV001496340] Chr7:150974799 [GRCh38]
Chr7:150671887 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2731G>C (p.Gly911Arg) single nucleotide variant Cardiac arrhythmia [RCV001842657] Chr7:150947840 [GRCh38]
Chr7:150644928 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1308G>A (p.Thr436=) single nucleotide variant Long QT syndrome 2 [RCV001161092]|Long QT syndrome [RCV001394878] Chr7:150952674 [GRCh38]
Chr7:150649762 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.3286C>T (p.Pro1096Ser) single nucleotide variant Cardiac arrhythmia [RCV001843087] Chr7:150946921 [GRCh38]
Chr7:150644009 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3403C>T (p.Arg1135Cys) single nucleotide variant Cardiac arrhythmia [RCV001842762]|Long QT syndrome [RCV002555499]|not provided [RCV001760131] Chr7:150945442 [GRCh38]
Chr7:150642530 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2049C>T (p.Phe683=) single nucleotide variant Cardiac arrhythmia [RCV001842763] Chr7:150951017 [GRCh38]
Chr7:150648105 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3255G>T (p.Gly1085=) single nucleotide variant Cardiac arrhythmia [RCV001843148]|Long QT syndrome [RCV002067937] Chr7:150946952 [GRCh38]
Chr7:150644040 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1836G>C (p.Val612=) single nucleotide variant Cardiac arrhythmia [RCV001843157] Chr7:150951557 [GRCh38]
Chr7:150648645 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2548G>T (p.Asp850Tyr) single nucleotide variant Cardiac arrhythmia [RCV001843160] Chr7:150948900 [GRCh38]
Chr7:150645988 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2721C>T (p.Ala907=) single nucleotide variant Cardiac arrhythmia [RCV001841125]|Cardiovascular phenotype [RCV002429840]|Long QT syndrome [RCV003117832]|not provided [RCV003886486] Chr7:150947850 [GRCh38]
Chr7:150644938 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1731A>T (p.Pro577=) single nucleotide variant Cardiac arrhythmia [RCV001842684]|Cardiovascular phenotype [RCV002402529]|Long QT syndrome [RCV001462056] Chr7:150951662 [GRCh38]
Chr7:150648750 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.-245C>T single nucleotide variant Long QT syndrome 2 [RCV001161195] Chr7:150978158 [GRCh38]
Chr7:150675246 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.138C>G (p.Asp46Glu) single nucleotide variant Cardiac arrhythmia [RCV001843092]|Cardiovascular phenotype [RCV002393410]|Long QT syndrome [RCV001876025] Chr7:150974880 [GRCh38]
Chr7:150671968 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2515C>A (p.Leu839Met) single nucleotide variant Cardiac arrhythmia [RCV001842764]|Long QT syndrome [RCV001365298] Chr7:150948933 [GRCh38]
Chr7:150646021 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2819G>T (p.Ser940Ile) single nucleotide variant Cardiac arrhythmia [RCV001843183] Chr7:150947752 [GRCh38]
Chr7:150644840 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.933G>A (p.Leu311=) single nucleotide variant Cardiac arrhythmia [RCV001843260]|Long QT syndrome [RCV002560877] Chr7:150957486 [GRCh38]
Chr7:150654574 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1332G>C (p.Glu444Asp) single nucleotide variant Cardiac arrhythmia [RCV001841139] Chr7:150952650 [GRCh38]
Chr7:150649738 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2684C>A (p.Thr895Lys) single nucleotide variant Cardiac arrhythmia [RCV001841141]|Cardiovascular phenotype [RCV002451398]|Short QT syndrome type 1 [RCV003336325] Chr7:150948452 [GRCh38]
Chr7:150645540 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2398+58C>G single nucleotide variant Cardiac arrhythmia [RCV001841145] Chr7:150950110 [GRCh38]
Chr7:150647198 [GRCh37]
Chr7:7q36.1		 likely benign
NC_000007.14:g.(?_150957281)_(150977923_?)del deletion Long QT syndrome [RCV001031265] Chr7:150654369..150675011 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2409C>T (p.Asp803=) single nucleotide variant Cardiac arrhythmia [RCV001843300]|Cardiovascular phenotype [RCV002447013]|Long QT syndrome [RCV001430490] Chr7:150949039 [GRCh38]
Chr7:150646127 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1644C>G (p.Ala548=) single nucleotide variant Cardiac arrhythmia [RCV001840966] Chr7:150951749 [GRCh38]
Chr7:150648837 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1815C>G (p.Pro605=) single nucleotide variant Cardiac arrhythmia [RCV001842780]|Long QT syndrome [RCV002068246] Chr7:150951578 [GRCh38]
Chr7:150648666 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3294C>G (p.Ser1098Arg) single nucleotide variant Cardiac arrhythmia [RCV001841153]|Long QT syndrome [RCV002560989] Chr7:150946913 [GRCh38]
Chr7:150644001 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.15G>A (p.Arg5=) single nucleotide variant Cardiac arrhythmia [RCV001841159] Chr7:150977899 [GRCh38]
Chr7:150674987 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2337G>T (p.Leu779=) single nucleotide variant Cardiac arrhythmia [RCV001840970] Chr7:150950229 [GRCh38]
Chr7:150647317 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2372G>A (p.Arg791Gln) single nucleotide variant Cardiac arrhythmia [RCV001840974]|Long QT syndrome [RCV001227728] Chr7:150950194 [GRCh38]
Chr7:150647282 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+1777C>T single nucleotide variant Cardiac arrhythmia [RCV001843126] Chr7:150955514 [GRCh38]
Chr7:150652602 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.77-4C>G single nucleotide variant Cardiac arrhythmia [RCV001843131] Chr7:150974945 [GRCh38]
Chr7:150672033 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.166C>A (p.Arg56=) single nucleotide variant Cardiac arrhythmia [RCV001843134]|Long QT syndrome [RCV001434179] Chr7:150974852 [GRCh38]
Chr7:150671940 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2792C>G (p.Pro931Arg) single nucleotide variant Cardiac arrhythmia [RCV001841164]|Long QT syndrome [RCV001859158] Chr7:150947779 [GRCh38]
Chr7:150644867 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3051C>A (p.Ala1017=) single nucleotide variant Cardiac arrhythmia [RCV001841169]|Cardiovascular phenotype [RCV002447032]|Long QT syndrome [RCV002069183] Chr7:150947429 [GRCh38]
Chr7:150644517 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2475C>T (p.Leu825=) single nucleotide variant Cardiac arrhythmia [RCV001841179]|Cardiovascular phenotype [RCV002447033]|Long QT syndrome [RCV002069195] Chr7:150948973 [GRCh38]
Chr7:150646061 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2466_2474dup (p.Arg823_Leu825dup) duplication not provided [RCV001092774] Chr7:150948973..150948974 [GRCh38]
Chr7:150646061..150646062 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1730C>A (p.Pro577Gln) single nucleotide variant not provided [RCV001092776] Chr7:150951663 [GRCh38]
Chr7:150648751 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.77-6C>G single nucleotide variant Cardiac arrhythmia [RCV001842615]|Long QT syndrome 2 [RCV001159792]|Long QT syndrome [RCV001351138] Chr7:150974947 [GRCh38]
Chr7:150672035 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.-33T>C single nucleotide variant Long QT syndrome 2 [RCV001159793] Chr7:150977946 [GRCh38]
Chr7:150675034 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.551GCGCGGGCG[4] (p.Gly189_Ala190insGlyAlaGlyGlyAlaGly) microsatellite Long QT syndrome [RCV001069624]|Short QT syndrome type 1 [RCV002482130]|not specified [RCV001806015] Chr7:150958406..150958407 [GRCh38]
Chr7:150655494..150655495 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3090G>C (p.Pro1030=) single nucleotide variant Cardiac arrhythmia [RCV001843119]|Cardiovascular phenotype [RCV002320406]|Long QT syndrome [RCV001409557] Chr7:150947390 [GRCh38]
Chr7:150644478 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1149C>A (p.Asp383Glu) single nucleotide variant Cardiac arrhythmia [RCV001840976] Chr7:150952833 [GRCh38]
Chr7:150649921 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.135C>T (p.Asn45=) single nucleotide variant Cardiac arrhythmia [RCV001843052]|Long QT syndrome [RCV001341828] Chr7:150974883 [GRCh38]
Chr7:150671971 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1066C>T (p.Arg356Cys) single nucleotide variant Cardiac arrhythmia [RCV001840982]|Long QT syndrome [RCV002560903] Chr7:150957353 [GRCh38]
Chr7:150654441 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2146-15C>T single nucleotide variant Cardiac arrhythmia [RCV001842638] Chr7:150950435 [GRCh38]
Chr7:150647523 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1872A>T single nucleotide variant Cardiac arrhythmia [RCV001842643] Chr7:150955419 [GRCh38]
Chr7:150652507 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2684C>G (p.Thr895Arg) single nucleotide variant Cardiac arrhythmia [RCV001842682]|Long QT syndrome [RCV002555472] Chr7:150948452 [GRCh38]
Chr7:150645540 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+1870G>A single nucleotide variant Cardiac arrhythmia [RCV001843121]|Long QT syndrome [RCV002068314] Chr7:150955421 [GRCh38]
Chr7:150652509 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2385C>T (p.Val795=) single nucleotide variant Cardiac arrhythmia [RCV001843124]|Cardiovascular phenotype [RCV002451378]|KCNH2-related condition [RCV003963115]|Long QT syndrome [RCV001499196] Chr7:150950181 [GRCh38]
Chr7:150647269 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1557+6G>A single nucleotide variant Cardiac arrhythmia [RCV001840984]|Long QT syndrome [RCV001304777] Chr7:150952419 [GRCh38]
Chr7:150649507 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2964A>G (p.Ser988=) single nucleotide variant Cardiac arrhythmia [RCV001840987] Chr7:150947607 [GRCh38]
Chr7:150644695 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1686C>T (p.His562=) single nucleotide variant Cardiac arrhythmia [RCV001843055] Chr7:150951707 [GRCh38]
Chr7:150648795 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3072C>T (p.Asn1024=) single nucleotide variant Cardiac arrhythmia [RCV001842614]|Cardiovascular phenotype [RCV002319665]|Long QT syndrome 2 [RCV001159567]|Long QT syndrome [RCV001449170]|not provided [RCV001171872] Chr7:150947408 [GRCh38]
Chr7:150644496 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1054C>T (p.Pro352Ser) single nucleotide variant Cardiac arrhythmia [RCV001842620] Chr7:150957365 [GRCh38]
Chr7:150654453 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.72C>G (p.Gly24=) single nucleotide variant Cardiac arrhythmia [RCV001841001]|Long QT syndrome [RCV002559129] Chr7:150977842 [GRCh38]
Chr7:150674930 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3091_3096dup (p.Gly1031_Arg1032dup) duplication Cardiac arrhythmia [RCV001841003]|Long QT syndrome [RCV001862957] Chr7:150947383..150947384 [GRCh38]
Chr7:150644471..150644472 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+1776G>T single nucleotide variant Cardiac arrhythmia [RCV001841004] Chr7:150955515 [GRCh38]
Chr7:150652603 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2647C>T (p.Arg883Trp) single nucleotide variant Cardiac arrhythmia [RCV001841005]|Cardiovascular phenotype [RCV002429829]|Long QT syndrome [RCV001219456]|Short QT syndrome type 1 [RCV002497655]|not provided [RCV001572412] Chr7:150948489 [GRCh38]
Chr7:150645577 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1418C>T (p.Thr473Ile) single nucleotide variant not specified [RCV001000688] Chr7:150952564 [GRCh38]
Chr7:150649652 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.288C>T (p.Ile96=) single nucleotide variant Long QT syndrome [RCV002073135]|not provided [RCV001666943] Chr7:150974730 [GRCh38]
Chr7:150671818 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1708G>T (p.Ala570Ser) single nucleotide variant not provided [RCV001701216] Chr7:150951685 [GRCh38]
Chr7:150648773 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.916+14G>T single nucleotide variant not provided [RCV001671921] Chr7:150958045 [GRCh38]
Chr7:150655133 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2377G>A (p.Asp793Asn) single nucleotide variant Cardiac arrhythmia [RCV001843103]|Long QT syndrome [RCV001876038] Chr7:150950189 [GRCh38]
Chr7:150647277 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3288C>T (p.Pro1096=) single nucleotide variant Cardiac arrhythmia [RCV001843113]|Long QT syndrome [RCV001430408] Chr7:150946919 [GRCh38]
Chr7:150644007 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2965+14C>T single nucleotide variant Long QT syndrome [RCV002077137]|Short QT syndrome type 1 [RCV002496027]|not provided [RCV001703061]|not specified [RCV001700544] Chr7:150947592 [GRCh38]
Chr7:150644680 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1558-8T>A single nucleotide variant Cardiac arrhythmia [RCV001843109]|Long QT syndrome [RCV002559007] Chr7:150951843 [GRCh38]
Chr7:150648931 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.307+122C>T single nucleotide variant not provided [RCV001611092] Chr7:150974589 [GRCh38]
Chr7:150671677 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2855C>T (p.Pro952Leu) single nucleotide variant Long QT syndrome [RCV001069737] Chr7:150947716 [GRCh38]
Chr7:150644804 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.95C>T (p.Ala32Val) single nucleotide variant Long QT syndrome 2 [RCV001089534] Chr7:150974923 [GRCh38]
Chr7:150672011 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2693-48C>T single nucleotide variant not provided [RCV001589990] Chr7:150947926 [GRCh38]
Chr7:150645014 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3191T>G (p.Leu1064Arg) single nucleotide variant Long QT syndrome [RCV001048092] Chr7:150947016 [GRCh38]
Chr7:150644104 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2593-16C>T single nucleotide variant not provided [RCV001614573] Chr7:150948559 [GRCh38]
Chr7:150645647 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.-19G>A single nucleotide variant not provided [RCV001536338] Chr7:150977932 [GRCh38]
Chr7:150675020 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2693-131G>T single nucleotide variant not provided [RCV001589860] Chr7:150948009 [GRCh38]
Chr7:150645097 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2108del (p.His703fs) deletion not provided [RCV001567080] Chr7:150950958 [GRCh38]
Chr7:150648046 [GRCh37]
Chr7:7q36.1		 pathogenic
NC_000007.14:g.(?_150951438)_(150959746_?)del deletion Long QT syndrome [RCV001031904] Chr7:150648526..150656834 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.690_691delinsTT (p.Glu230_Arg231delinsAspTrp) indel Long QT syndrome [RCV001068101] Chr7:150958284..150958285 [GRCh38]
Chr7:150655372..150655373 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.373T>C (p.Phe125Leu) single nucleotide variant Long QT syndrome [RCV001203008] Chr7:150959671 [GRCh38]
Chr7:150656759 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2777C>T (p.Pro926Leu) single nucleotide variant Cardiac arrhythmia [RCV003591834]|Long QT syndrome [RCV001052643] Chr7:150947794 [GRCh38]
Chr7:150644882 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3108_3112dup (p.Val1038fs) duplication Long QT syndrome [RCV001218782] Chr7:150947367..150947368 [GRCh38]
Chr7:150644455..150644456 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2285_2286del (p.His762fs) deletion Long QT syndrome [RCV001206145] Chr7:150950280..150950281 [GRCh38]
Chr7:150647368..150647369 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.523G>T (p.Ala175Ser) single nucleotide variant Long QT syndrome [RCV001206262] Chr7:150958452 [GRCh38]
Chr7:150655540 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2753G>A (p.Ser918Asn) single nucleotide variant Cardiovascular phenotype [RCV002436803]|Long QT syndrome [RCV001208459] Chr7:150947818 [GRCh38]
Chr7:150644906 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.694C>T (p.Arg232Cys) single nucleotide variant Cardiovascular phenotype [RCV002365731]|Long QT syndrome [RCV001060198] Chr7:150958281 [GRCh38]
Chr7:150655369 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3352G>A (p.Glu1118Lys) single nucleotide variant Long QT syndrome [RCV001060320] Chr7:150945493 [GRCh38]
Chr7:150642581 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2696C>T (p.Thr899Met) single nucleotide variant Cardiac arrhythmia [RCV001842608]|Cardiovascular phenotype [RCV002429733]|Long QT syndrome [RCV001068795]|Short QT syndrome type 1 [RCV002482124]|not provided [RCV003442197] Chr7:150947875 [GRCh38]
Chr7:150644963 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.877_878delinsTT (p.Ala293Phe) indel Long QT syndrome [RCV001237088] Chr7:150958097..150958098 [GRCh38]
Chr7:150655185..150655186 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2004G>A (p.Ser668=) single nucleotide variant Long QT syndrome [RCV001220226] Chr7:150951062 [GRCh38]
Chr7:150648150 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3365dup (p.Ala1124fs) duplication Long QT syndrome [RCV001216294]|not provided [RCV001544857] Chr7:150945479..150945480 [GRCh38]
Chr7:150642567..150642568 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.211G>A (p.Gly71Arg) single nucleotide variant Long QT syndrome [RCV001220022] Chr7:150974807 [GRCh38]
Chr7:150671895 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu) single nucleotide variant Long QT syndrome 2 [RCV001089521] Chr7:150951460 [GRCh38]
Chr7:150648548 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.664G>A (p.Val222Met) single nucleotide variant Long QT syndrome [RCV001036349] Chr7:150958311 [GRCh38]
Chr7:150655399 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1640C>T (p.Ala547Val) single nucleotide variant Cardiac arrhythmia [RCV001842603]|Long QT syndrome [RCV001057221] Chr7:150951753 [GRCh38]
Chr7:150648841 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1180C>T (p.Arg394Cys) single nucleotide variant Long QT syndrome [RCV001061153]|not provided [RCV002223980] Chr7:150952802 [GRCh38]
Chr7:150649890 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.*190C>T single nucleotide variant Long QT syndrome 2 [RCV001162456]|not provided [RCV001586016] Chr7:150945175 [GRCh38]
Chr7:150642263 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.29C>T (p.Pro10Leu) single nucleotide variant Long QT syndrome [RCV001217948] Chr7:150977885 [GRCh38]
Chr7:150674973 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2624C>G (p.Thr875Arg) single nucleotide variant Long QT syndrome [RCV001053690] Chr7:150948512 [GRCh38]
Chr7:150645600 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+1866G>T single nucleotide variant Cardiac arrhythmia [RCV001843085] Chr7:150955425 [GRCh38]
Chr7:150652513 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2398+59G>A single nucleotide variant Cardiac arrhythmia [RCV001843096] Chr7:150950109 [GRCh38]
Chr7:150647197 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.812_813del (p.Arg271fs) microsatellite Long QT syndrome [RCV001234017] Chr7:150958162..150958163 [GRCh38]
Chr7:150655250..150655251 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.233C>T (p.Ala78Val) single nucleotide variant Long QT syndrome [RCV001230469] Chr7:150974785 [GRCh38]
Chr7:150671873 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2398+17G>T single nucleotide variant Cardiac arrhythmia [RCV001843086] Chr7:150950151 [GRCh38]
Chr7:150647239 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1838G>C single nucleotide variant Cardiac arrhythmia [RCV001843095] Chr7:150955453 [GRCh38]
Chr7:150652541 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2966-3C>G single nucleotide variant not provided [RCV001091927] Chr7:150947517 [GRCh38]
Chr7:150644605 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1622G>A (p.Arg541His) single nucleotide variant Cardiac arrhythmia [RCV001841191]|Long QT syndrome [RCV001234216]|not provided [RCV003117859] Chr7:150951771 [GRCh38]
Chr7:150648859 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1469C>T (p.Ala490Val) single nucleotide variant Cardiovascular phenotype [RCV002393332]|Inborn genetic diseases [RCV001267178]|Long QT syndrome 2 [RCV001258356]|Long QT syndrome [RCV001068986] Chr7:150952513 [GRCh38]
Chr7:150649601 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1518C>A (p.Ile506=) single nucleotide variant Cardiac arrhythmia [RCV001843100]|Long QT syndrome [RCV003532883] Chr7:150952464 [GRCh38]
Chr7:150649552 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2407_2409del (p.Asp803del) deletion Long QT syndrome [RCV001058375] Chr7:150949039..150949041 [GRCh38]
Chr7:150646127..150646129 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1946-4_1948del deletion Long QT syndrome [RCV001204876] Chr7:150951118..150951124 [GRCh38]
Chr7:150648206..150648212 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.1745_1746dup (p.Ile583fs) duplication Long QT syndrome [RCV001232026] Chr7:150951646..150951647 [GRCh38]
Chr7:150648734..150648735 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2653_2657del (p.Arg885fs) deletion Long QT syndrome [RCV001206303] Chr7:150948479..150948483 [GRCh38]
Chr7:150645567..150645571 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1966_1989del (p.Phe656_Ile663del) deletion Long QT syndrome [RCV001210923] Chr7:150951077..150951100 [GRCh38]
Chr7:150648165..150648188 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3 copy number gain not provided [RCV001249383] Chr7:143107740..156886246 [GRCh37]
Chr7:7q35-36.3		 not provided
NM_000238.4(KCNH2):c.93C>G (p.Ile31Met) single nucleotide variant Long QT syndrome [RCV001040868] Chr7:150974925 [GRCh38]
Chr7:150672013 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.707_708del (p.Gly236fs) deletion Long QT syndrome [RCV001228604] Chr7:150958267..150958268 [GRCh38]
Chr7:150655355..150655356 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1578del (p.Ala527fs) deletion Long QT syndrome [RCV001055510] Chr7:150951815 [GRCh38]
Chr7:150648903 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1968_1969delinsTT (p.Gly657Cys) indel Long QT syndrome [RCV001213328] Chr7:150951097..150951098 [GRCh38]
Chr7:150648185..150648186 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2486A>C (p.Asp829Ala) single nucleotide variant Long QT syndrome [RCV001055744] Chr7:150948962 [GRCh38]
Chr7:150646050 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1190G>A (p.Arg397His) single nucleotide variant Cardiac arrhythmia [RCV001842602]|Cardiovascular phenotype [RCV002339278]|KCNH2-related condition [RCV003413869]|Long QT syndrome [RCV001055801]|Short QT syndrome type 1 [RCV002479339] Chr7:150952792 [GRCh38]
Chr7:150649880 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1027del (p.Leu343fs) deletion Long QT syndrome [RCV001229148] Chr7:150957392 [GRCh38]
Chr7:150654480 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.803C>A (p.Ala268Asp) single nucleotide variant Long QT syndrome [RCV001211266] Chr7:150958172 [GRCh38]
Chr7:150655260 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.-29GGCCCGCCC[3] microsatellite Cardiac arrhythmia [RCV001843090]|Short QT syndrome type 1 [RCV002505766] Chr7:150977924..150977925 [GRCh38]
Chr7:150675012..150675013 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2774G>A (p.Gly925Glu) single nucleotide variant Cardiac arrhythmia [RCV001843099]|Long QT syndrome [RCV001363114]|Short QT syndrome type 1 [RCV002497636] Chr7:150947797 [GRCh38]
Chr7:150644885 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1112_1113dup (p.Glu372fs) duplication Long QT syndrome [RCV001064080] Chr7:150957305..150957306 [GRCh38]
Chr7:150654393..150654394 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3137A>G (p.Gln1046Arg) single nucleotide variant Long QT syndrome [RCV001231864] Chr7:150947343 [GRCh38]
Chr7:150644431 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2719G>T (p.Ala907Ser) single nucleotide variant Cardiac arrhythmia [RCV001842585]|Long QT syndrome [RCV001035498] Chr7:150947852 [GRCh38]
Chr7:150644940 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2634_2643del (p.Gly879fs) deletion Long QT syndrome [RCV001049863] Chr7:150948493..150948502 [GRCh38]
Chr7:150645581..150645590 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2918del (p.Leu973fs) deletion Cardiovascular phenotype [RCV003353145]|Long QT syndrome 2 [RCV001730750]|Long QT syndrome [RCV001064310] Chr7:150947653 [GRCh38]
Chr7:150644741 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1 copy number loss not provided [RCV001006022] Chr7:145962558..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs) deletion Cardiac arrhythmia [RCV001842618]|Cardiovascular phenotype [RCV003163386]|Long QT syndrome [RCV001383848] Chr7:150947388 [GRCh38]
Chr7:150644476 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.1926C>G (p.Ile642Met) single nucleotide variant Cardiovascular phenotype [RCV003294159]|Long QT syndrome 2 [RCV001249399] Chr7:150951467 [GRCh38]
Chr7:150648555 [GRCh37]
Chr7:7q36.1		 uncertain significance|not provided
NM_000238.4(KCNH2):c.1178C>T (p.Pro393Leu) single nucleotide variant Long QT syndrome [RCV001201606]|Short QT syndrome type 1 [RCV002497688] Chr7:150952804 [GRCh38]
Chr7:150649892 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2783G>A (p.Gly928Glu) single nucleotide variant Long QT syndrome 2 [RCV002272399]|Long QT syndrome [RCV001054509]|Short QT syndrome type 1 [RCV002497420] Chr7:150947788 [GRCh38]
Chr7:150644876 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2692+4A>G single nucleotide variant Long QT syndrome [RCV001211620] Chr7:150948440 [GRCh38]
Chr7:150645528 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2412C>A (p.Ile804=) single nucleotide variant Cardiac arrhythmia [RCV001843171]|Long QT syndrome [RCV001515659] Chr7:150949036 [GRCh38]
Chr7:150646124 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.38C>A (p.Thr13Asn) single nucleotide variant Cardiac arrhythmia [RCV001843182]|Cardiovascular phenotype [RCV002356845]|Long QT syndrome [RCV001349592]|Short QT syndrome type 1 [RCV002491536]|not provided [RCV003130174] Chr7:150977876 [GRCh38]
Chr7:150674964 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1097G>A (p.Arg366Gln) single nucleotide variant Cardiac arrhythmia [RCV001842651]|Long QT syndrome [RCV001875816]|not provided [RCV001561701] Chr7:150957322 [GRCh38]
Chr7:150654410 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+6C>T single nucleotide variant Cardiac arrhythmia [RCV001842589]|Long QT syndrome [RCV001040819] Chr7:150957285 [GRCh38]
Chr7:150654373 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.3339G>A (p.Gln1113=) single nucleotide variant Cardiac arrhythmia [RCV001843198] Chr7:150945506 [GRCh38]
Chr7:150642594 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1155G>T (p.Leu385=) single nucleotide variant Cardiac arrhythmia [RCV001842655] Chr7:150952827 [GRCh38]
Chr7:150649915 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2959C>T (p.Leu987=) single nucleotide variant Cardiac arrhythmia [RCV001842666]|Long QT syndrome [RCV002555465] Chr7:150947612 [GRCh38]
Chr7:150644700 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2996G>A (p.Ser999Asn) single nucleotide variant Cardiac arrhythmia [RCV001842674]|not provided [RCV001811683] Chr7:150947484 [GRCh38]
Chr7:150644572 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.*92C>T single nucleotide variant Long QT syndrome 2 [RCV001164497] Chr7:150945273 [GRCh38]
Chr7:150642361 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.-45G>A single nucleotide variant Long QT syndrome 2 [RCV001159794] Chr7:150977958 [GRCh38]
Chr7:150675046 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1017C>G (p.Asn339Lys) single nucleotide variant Long QT syndrome [RCV001212897] Chr7:150957402 [GRCh38]
Chr7:150654490 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.697G>A (p.Ala233Thr) single nucleotide variant Long QT syndrome [RCV001052748] Chr7:150958278 [GRCh38]
Chr7:150655366 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2854C>T (p.Pro952Ser) single nucleotide variant Cardiac arrhythmia [RCV001842693]|Long QT syndrome [RCV001238370]|not provided [RCV001571742] Chr7:150947717 [GRCh38]
Chr7:150644805 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.966C>T (p.Ser322=) single nucleotide variant Cardiac arrhythmia [RCV001842707]|Cardiovascular phenotype [RCV002379686]|Long QT syndrome [RCV001445250] Chr7:150957453 [GRCh38]
Chr7:150654541 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1707C>T (p.Tyr569=) single nucleotide variant Cardiac arrhythmia [RCV001842617]|Cardiovascular phenotype [RCV003163358]|Long QT syndrome 2 [RCV001164595]|Long QT syndrome [RCV001483250] Chr7:150951686 [GRCh38]
Chr7:150648774 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs) indel Cardiac arrhythmia [RCV001841180]|Cardiovascular phenotype [RCV003293979] Chr7:150947373..150947380 [GRCh38]
Chr7:150644461..150644468 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.148G>C (p.Glu50Gln) single nucleotide variant Long QT syndrome [RCV001204379] Chr7:150974870 [GRCh38]
Chr7:150671958 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2793G>A (p.Pro931=) single nucleotide variant Cardiac arrhythmia [RCV003591845]|Cardiovascular phenotype [RCV002436726]|Long QT syndrome 2 [RCV001160949]|Long QT syndrome [RCV001472345] Chr7:150947778 [GRCh38]
Chr7:150644866 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1397A>G (p.Asp466Gly) single nucleotide variant Long QT syndrome 2 [RCV001161089]|Long QT syndrome [RCV003647828] Chr7:150952585 [GRCh38]
Chr7:150649673 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1126C>G (p.Gln376Glu) single nucleotide variant Long QT syndrome 2 [RCV001161093] Chr7:150957293 [GRCh38]
Chr7:150654381 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.508CTG[4] (p.Leu171_Ala172insLeuLeu) microsatellite Long QT syndrome 2 [RCV002471029]|Long QT syndrome [RCV001069410] Chr7:150958461..150958462 [GRCh38]
Chr7:150655549..150655550 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2707G>C (p.Gly903Arg) single nucleotide variant Long QT syndrome [RCV001233742] Chr7:150947864 [GRCh38]
Chr7:150644952 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.198C>A (p.Cys66Ter) single nucleotide variant Long QT syndrome [RCV001070384] Chr7:150974820 [GRCh38]
Chr7:150671908 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3103dup (p.Arg1035fs) duplication Long QT syndrome [RCV001063183] Chr7:150947376..150947377 [GRCh38]
Chr7:150644464..150644465 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3007del (p.Asp1003fs) deletion Long QT syndrome [RCV001039033] Chr7:150947473 [GRCh38]
Chr7:150644561 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2692+1G>T single nucleotide variant not provided [RCV001092773] Chr7:150948443 [GRCh38]
Chr7:150645531 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.1053G>A (p.Ser351=) single nucleotide variant Cardiac arrhythmia [RCV003591846]|Cardiovascular phenotype [RCV002402520]|Long QT syndrome 2 [RCV001162643]|Long QT syndrome [RCV001462537]|not provided [RCV001655689] Chr7:150957366 [GRCh38]
Chr7:150654454 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.880G>A (p.Gly294Arg) single nucleotide variant Long QT syndrome [RCV001039497] Chr7:150958095 [GRCh38]
Chr7:150655183 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3003G>C (p.Trp1001Cys) single nucleotide variant Long QT syndrome [RCV001063766] Chr7:150947477 [GRCh38]
Chr7:150644565 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1909G>T (p.Glu637Ter) single nucleotide variant Long QT syndrome [RCV001254732] Chr7:150951484 [GRCh38]
Chr7:150648572 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2345T>C (p.Ile782Thr) single nucleotide variant Long QT syndrome [RCV001254742] Chr7:150950221 [GRCh38]
Chr7:150647309 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2054G>A (p.Arg685His) single nucleotide variant Cardiovascular phenotype [RCV002418862]|Long QT syndrome 2 [RCV001258196]|Long QT syndrome [RCV001879987] Chr7:150951012 [GRCh38]
Chr7:150648100 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2870C>T (p.Pro957Leu) single nucleotide variant Long QT syndrome 2 [RCV001258205] Chr7:150947701 [GRCh38]
Chr7:150644789 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro) single nucleotide variant Long QT syndrome 1 [RCV001256905]|Long QT syndrome 2 [RCV002471062] Chr7:150951798 [GRCh38]
Chr7:150648886 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1967del (p.Phe656fs) deletion Long QT syndrome 2 [RCV001258354] Chr7:150951099 [GRCh38]
Chr7:150648187 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2676del (p.Arg893fs) deletion Long QT syndrome 2 [RCV001262923] Chr7:150948460 [GRCh38]
Chr7:150645548 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.76+18C>T single nucleotide variant Long QT syndrome [RCV002069536]|not provided [RCV001810643] Chr7:150977820 [GRCh38]
Chr7:150674908 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2332G>A (p.Ala778Thr) single nucleotide variant Cardiovascular phenotype [RCV002451627]|Long QT syndrome 2 [RCV001258195]|Long QT syndrome [RCV003647835] Chr7:150950234 [GRCh38]
Chr7:150647322 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.302A>G (p.Lys101Arg) single nucleotide variant Cardiovascular phenotype [RCV002440832]|not provided [RCV001663769] Chr7:150974716 [GRCh38]
Chr7:150671804 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.527G>A (p.Arg176Gln) single nucleotide variant Long QT syndrome [RCV001307948] Chr7:150958448 [GRCh38]
Chr7:150655536 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3013C>T (p.Arg1005Trp) single nucleotide variant Long QT syndrome [RCV001319226]|Short QT syndrome type 1 [RCV002476492] Chr7:150947467 [GRCh38]
Chr7:150644555 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.875G>A (p.Arg292His) single nucleotide variant Long QT syndrome [RCV001316849] Chr7:150958100 [GRCh38]
Chr7:150655188 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2231G>C (p.Arg744Pro) single nucleotide variant Long QT syndrome [RCV001316853] Chr7:150950335 [GRCh38]
Chr7:150647423 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1384A>G (p.Met462Val) single nucleotide variant Long QT syndrome [RCV001299073] Chr7:150952598 [GRCh38]
Chr7:150649686 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1055C>G (p.Pro352Arg) single nucleotide variant Long QT syndrome [RCV001342318] Chr7:150957364 [GRCh38]
Chr7:150654452 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1576A>G (p.Thr526Ala) single nucleotide variant Long QT syndrome [RCV001341569] Chr7:150951817 [GRCh38]
Chr7:150648905 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2692+167_3153-109del deletion Prolonged QT interval [RCV001281543] Chr7:150947163..150948277 [GRCh38]
Chr7:150644251..150645365 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro) single nucleotide variant Long QT syndrome 2 [RCV002285475]|Long QT syndrome [RCV001327902] Chr7:150950197 [GRCh38]
Chr7:150647285 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2855C>G (p.Pro952Arg) single nucleotide variant Long QT syndrome [RCV001339264] Chr7:150947716 [GRCh38]
Chr7:150644804 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2014C>T (p.Arg672Cys) single nucleotide variant Long QT syndrome [RCV001319635] Chr7:150951052 [GRCh38]
Chr7:150648140 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.424G>A (p.Ala142Thr) single nucleotide variant Long QT syndrome [RCV001325509] Chr7:150959620 [GRCh38]
Chr7:150656708 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3406C>T (p.Leu1136Phe) single nucleotide variant Long QT syndrome [RCV001338569]|Short QT syndrome type 1 [RCV002476561] Chr7:150945439 [GRCh38]
Chr7:150642527 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2781G>T (p.Trp927Cys) single nucleotide variant Cardiovascular phenotype [RCV002438775]|Long QT syndrome [RCV001340203]|Short QT syndrome type 1 [RCV002486371]|not provided [RCV001751666] Chr7:150947790 [GRCh38]
Chr7:150644878 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.237C>A (p.Ala79=) single nucleotide variant Long QT syndrome [RCV001307750] Chr7:150974781 [GRCh38]
Chr7:150671869 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2837C>T (p.Pro946Leu) single nucleotide variant Long QT syndrome [RCV001305743] Chr7:150947734 [GRCh38]
Chr7:150644822 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1099A>G (p.Thr367Ala) single nucleotide variant Long QT syndrome [RCV001352141] Chr7:150957320 [GRCh38]
Chr7:150654408 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.200A>G (p.Asp67Gly) single nucleotide variant Long QT syndrome [RCV001352272] Chr7:150974818 [GRCh38]
Chr7:150671906 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.562G>A (p.Ala188Thr) single nucleotide variant Long QT syndrome [RCV001338239] Chr7:150958413 [GRCh38]
Chr7:150655501 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.76+2T>A single nucleotide variant Long QT syndrome 2 [RCV001802757]|Long QT syndrome [RCV002541373] Chr7:150977836 [GRCh38]
Chr7:150674924 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.352G>C (p.Glu118Gln) single nucleotide variant Long QT syndrome [RCV001296806] Chr7:150959692 [GRCh38]
Chr7:150656780 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1930G>A (p.Val644Ile) single nucleotide variant Cardiac arrhythmia [RCV003591854]|Long QT syndrome [RCV001307247]|not provided [RCV002224053] Chr7:150951463 [GRCh38]
Chr7:150648551 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2276A>G (p.Lys759Arg) single nucleotide variant Long QT syndrome [RCV001295144] Chr7:150950290 [GRCh38]
Chr7:150647378 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1746C>T (p.Arg582=) single nucleotide variant Long QT syndrome [RCV001306387] Chr7:150951647 [GRCh38]
Chr7:150648735 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2425C>T (p.Leu809=) single nucleotide variant Long QT syndrome [RCV001415000] Chr7:150949023 [GRCh38]
Chr7:150646111 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2012C>G (p.Ala671Gly) single nucleotide variant Long QT syndrome [RCV001325001] Chr7:150951054 [GRCh38]
Chr7:150648142 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1058C>T (p.Thr353Ile) single nucleotide variant Long QT syndrome [RCV001352346] Chr7:150957361 [GRCh38]
Chr7:150654449 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.535T>G (p.Ser179Ala) single nucleotide variant Long QT syndrome [RCV001369217] Chr7:150958440 [GRCh38]
Chr7:150655528 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.669del (p.Leu225fs) deletion Long QT syndrome [RCV001382699] Chr7:150958306 [GRCh38]
Chr7:150655394 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.549C>T (p.Gly183=) single nucleotide variant Cardiovascular phenotype [RCV002350820]|KCNH2-related condition [RCV003953772]|Long QT syndrome [RCV001421119] Chr7:150958426 [GRCh38]
Chr7:150655514 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3086_3099del (p.Ser1029fs) deletion Long QT syndrome [RCV001382731] Chr7:150947381..150947394 [GRCh38]
Chr7:150644469..150644482 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2966-12C>G single nucleotide variant Long QT syndrome 2 [RCV001336743] Chr7:150947526 [GRCh38]
Chr7:150644614 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1894C>G (p.Pro632Ala) single nucleotide variant Cardiovascular phenotype [RCV002413860]|Long QT syndrome [RCV001362441] Chr7:150951499 [GRCh38]
Chr7:150648587 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.60C>G (p.Arg20=) single nucleotide variant Long QT syndrome [RCV001414695] Chr7:150977854 [GRCh38]
Chr7:150674942 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1780G>C (p.Gly594Arg) single nucleotide variant Long QT syndrome [RCV001327509] Chr7:150951613 [GRCh38]
Chr7:150648701 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1897A>C (p.Asn633His) single nucleotide variant Long QT syndrome [RCV001298158] Chr7:150951496 [GRCh38]
Chr7:150648584 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1859G>A (p.Ser620Asn) single nucleotide variant Cardiovascular phenotype [RCV002412017]|Long QT syndrome [RCV001316854] Chr7:150951534 [GRCh38]
Chr7:150648622 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.704T>C (p.Val235Ala) single nucleotide variant not provided [RCV001356160] Chr7:150958271 [GRCh38]
Chr7:150655359 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1707_1711dup (p.Ile571fs) duplication Long QT syndrome [RCV001382759] Chr7:150951681..150951682 [GRCh38]
Chr7:150648769..150648770 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.473-8T>A single nucleotide variant Long QT syndrome [RCV001392243] Chr7:150958510 [GRCh38]
Chr7:150655598 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2833G>T (p.Gly945Cys) single nucleotide variant Long QT syndrome [RCV001373509] Chr7:150947738 [GRCh38]
Chr7:150644826 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2675G>A (p.Arg892His) single nucleotide variant Cardiac arrhythmia [RCV001841215]|Long QT syndrome [RCV001362747]|Short QT syndrome type 1 [RCV002499735]|not provided [RCV001564940] Chr7:150948461 [GRCh38]
Chr7:150645549 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2574C>A (p.Ile858=) single nucleotide variant not provided [RCV001310607] Chr7:150948874 [GRCh38]
Chr7:150645962 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2145G>C (p.Ala715=) single nucleotide variant not provided [RCV001310608] Chr7:150950921 [GRCh38]
Chr7:150648009 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1419C>A (p.Thr473=) single nucleotide variant Long QT syndrome [RCV001392072] Chr7:150952563 [GRCh38]
Chr7:150649651 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2937G>A (p.Lys979=) single nucleotide variant Long QT syndrome [RCV001397320] Chr7:150947634 [GRCh38]
Chr7:150644722 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.32A>G (p.Gln11Arg) single nucleotide variant Long QT syndrome [RCV001373121] Chr7:150977882 [GRCh38]
Chr7:150674970 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.916+5G>A single nucleotide variant Long QT syndrome [RCV001343452] Chr7:150958054 [GRCh38]
Chr7:150655142 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.280G>A (p.Val94Met) single nucleotide variant Long QT syndrome [RCV001364661] Chr7:150974738 [GRCh38]
Chr7:150671826 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2891C>G (p.Pro964Arg) single nucleotide variant Long QT syndrome [RCV001321523] Chr7:150947680 [GRCh38]
Chr7:150644768 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2588G>A (p.Arg863Gln) single nucleotide variant Cardiovascular phenotype [RCV002431935]|Long QT syndrome 2 [RCV002471086]|Long QT syndrome [RCV001327317]|not provided [RCV003156339] Chr7:150948860 [GRCh38]
Chr7:150645948 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1756C>G (p.Leu586Val) single nucleotide variant not provided [RCV001812424] Chr7:150951637 [GRCh38]
Chr7:150648725 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+1769G>A single nucleotide variant not provided [RCV001713078] Chr7:150955522 [GRCh38]
Chr7:150652610 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.3070A>T (p.Asn1024Tyr) single nucleotide variant Long QT syndrome [RCV001321898] Chr7:150947410 [GRCh38]
Chr7:150644498 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2932G>C (p.Glu978Gln) single nucleotide variant Long QT syndrome [RCV001346813] Chr7:150947639 [GRCh38]
Chr7:150644727 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1824G>A (p.Lys608=) single nucleotide variant Cardiovascular phenotype [RCV002413851]|Long QT syndrome [RCV001360793] Chr7:150951569 [GRCh38]
Chr7:150648657 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.280G>C (p.Val94Leu) single nucleotide variant Long QT syndrome [RCV001361114] Chr7:150974738 [GRCh38]
Chr7:150671826 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3107_3112dup (p.Gly1036_Asp1037dup) duplication Long QT syndrome [RCV001313187] Chr7:150947367..150947368 [GRCh38]
Chr7:150644455..150644456 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2768C>A (p.Pro923Gln) single nucleotide variant Cardiovascular phenotype [RCV002437038]|Long QT syndrome [RCV001305671] Chr7:150947803 [GRCh38]
Chr7:150644891 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2891C>T (p.Pro964Leu) single nucleotide variant Long QT syndrome [RCV001351162] Chr7:150947680 [GRCh38]
Chr7:150644768 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3170G>A (p.Ser1057Asn) single nucleotide variant Long QT syndrome [RCV001322122] Chr7:150947037 [GRCh38]
Chr7:150644125 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3209A>T (p.Gln1070Leu) single nucleotide variant Long QT syndrome [RCV001347177] Chr7:150946998 [GRCh38]
Chr7:150644086 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1010C>G (p.Thr337Ser) single nucleotide variant Long QT syndrome [RCV001347193] Chr7:150957409 [GRCh38]
Chr7:150654497 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.572C>T (p.Pro191Leu) single nucleotide variant Long QT syndrome [RCV001327757] Chr7:150958403 [GRCh38]
Chr7:150655491 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.571_579dup (p.Ala193_Val194insProGlyAla) duplication Long QT syndrome [RCV001324409] Chr7:150958395..150958396 [GRCh38]
Chr7:150655483..150655484 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2776_2784dup (p.Pro926_Gly928dup) duplication Long QT syndrome [RCV001344233] Chr7:150947786..150947787 [GRCh38]
Chr7:150644874..150644875 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.223C>G (p.Gln75Glu) single nucleotide variant Long QT syndrome [RCV001323367] Chr7:150974795 [GRCh38]
Chr7:150671883 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.421C>T (p.Pro141Ser) single nucleotide variant Long QT syndrome [RCV001349853] Chr7:150959623 [GRCh38]
Chr7:150656711 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.797G>T (p.Ser266Ile) single nucleotide variant Long QT syndrome [RCV001369924] Chr7:150958178 [GRCh38]
Chr7:150655266 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150643955)_(150644976_?)del deletion Long QT syndrome [RCV001294850] Chr7:150643955..150644976 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1650G>A (p.Leu550=) single nucleotide variant Long QT syndrome [RCV001347675] Chr7:150951743 [GRCh38]
Chr7:150648831 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1708G>A (p.Ala570Thr) single nucleotide variant Long QT syndrome [RCV001347714] Chr7:150951685 [GRCh38]
Chr7:150648773 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.362C>T (p.Ala121Val) single nucleotide variant Long QT syndrome [RCV001363541] Chr7:150959682 [GRCh38]
Chr7:150656770 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1832A>G (p.Tyr611Cys) single nucleotide variant Long QT syndrome [RCV001319439] Chr7:150951561 [GRCh38]
Chr7:150648649 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.76+3G>A single nucleotide variant Cardiac arrhythmia [RCV003591859]|Cardiovascular phenotype [RCV003294353]|Long QT syndrome [RCV001343003] Chr7:150977835 [GRCh38]
Chr7:150674923 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.976C>T (p.Arg326Cys) single nucleotide variant Cardiovascular phenotype [RCV002384471]|Long QT syndrome [RCV001344414] Chr7:150957443 [GRCh38]
Chr7:150654531 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.220A>G (p.Thr74Ala) single nucleotide variant Long QT syndrome [RCV001344425] Chr7:150974798 [GRCh38]
Chr7:150671886 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1749C>G (p.Ile583Met) single nucleotide variant Long QT syndrome [RCV001323518] Chr7:150951644 [GRCh38]
Chr7:150648732 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1678A>G (p.Ile560Val) single nucleotide variant Long QT syndrome [RCV001363625] Chr7:150951715 [GRCh38]
Chr7:150648803 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2094G>T (p.Glu698Asp) single nucleotide variant Long QT syndrome [RCV001297672] Chr7:150950972 [GRCh38]
Chr7:150648060 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.76+5G>A single nucleotide variant Long QT syndrome [RCV001306211] Chr7:150977833 [GRCh38]
Chr7:150674921 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.306T>C (p.Asp102=) single nucleotide variant Cardiovascular phenotype [RCV002447360]|Long QT syndrome 2 [RCV002275355]|Long QT syndrome [RCV001321339] Chr7:150974712 [GRCh38]
Chr7:150671800 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.416G>C (p.Gly139Ala) single nucleotide variant Long QT syndrome [RCV001317577] Chr7:150959628 [GRCh38]
Chr7:150656716 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1462C>T (p.Arg488Cys) single nucleotide variant Cardiac arrhythmia [RCV001841206]|Cardiovascular phenotype [RCV002395684]|Long QT syndrome [RCV001318354] Chr7:150952520 [GRCh38]
Chr7:150649608 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1919T>G (p.Phe640Cys) single nucleotide variant Long QT syndrome [RCV001350204] Chr7:150951474 [GRCh38]
Chr7:150648562 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.530A>C (p.Glu177Ala) single nucleotide variant Long QT syndrome [RCV001349703] Chr7:150958445 [GRCh38]
Chr7:150655533 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.434C>T (p.Thr145Ile) single nucleotide variant Long QT syndrome [RCV001352284]|Short QT syndrome type 1 [RCV002486463] Chr7:150959610 [GRCh38]
Chr7:150656698 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2145+16C>T single nucleotide variant Long QT syndrome [RCV002554096]|not provided [RCV001713088]|not specified [RCV001420756] Chr7:150950905 [GRCh38]
Chr7:150647993 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2698_2748dup (p.Glu900_Gly916dup) duplication Long QT syndrome [RCV001316037]|not provided [RCV003229038] Chr7:150947822..150947823 [GRCh38]
Chr7:150644910..150644911 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.288C>A (p.Ile96=) single nucleotide variant Long QT syndrome [RCV001413672] Chr7:150974730 [GRCh38]
Chr7:150671818 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2689_2690insCGGAC (p.Lys897fs) insertion Long QT syndrome [RCV001350512] Chr7:150948446..150948447 [GRCh38]
Chr7:150645534..150645535 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.442C>A (p.Arg148=) single nucleotide variant Long QT syndrome [RCV001351159] Chr7:150959602 [GRCh38]
Chr7:150656690 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2097G>T (p.Glu699Asp) single nucleotide variant Long QT syndrome [RCV001298058] Chr7:150950969 [GRCh38]
Chr7:150648057 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2634G>A (p.Glu878=) single nucleotide variant Long QT syndrome [RCV001412477] Chr7:150948502 [GRCh38]
Chr7:150645590 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.27G>C (p.Ala9=) single nucleotide variant Cardiovascular phenotype [RCV002438958]|Long QT syndrome [RCV001413445] Chr7:150977887 [GRCh38]
Chr7:150674975 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.832A>T (p.Ser278Cys) single nucleotide variant Long QT syndrome [RCV001327004] Chr7:150958143 [GRCh38]
Chr7:150655231 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.916+9G>A single nucleotide variant Long QT syndrome [RCV001413571] Chr7:150958050 [GRCh38]
Chr7:150655138 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.451C>T (p.Pro151Ser) single nucleotide variant Long QT syndrome [RCV001327068] Chr7:150959593 [GRCh38]
Chr7:150656681 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2959dup (p.Leu987fs) duplication Cardiac arrhythmia [RCV001842028] Chr7:150947611..150947612 [GRCh38]
Chr7:150644699..150644700 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NC_000007.13:g.(?_150642453)_(152373165_?)dup duplication Long QT syndrome [RCV001327691] Chr7:150642453..152373165 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1946-8G>A single nucleotide variant Cardiac arrhythmia [RCV003591874]|Long QT syndrome [RCV001484556]|not specified [RCV001527006] Chr7:150951128 [GRCh38]
Chr7:150648216 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2292G>T (p.Pro764=) single nucleotide variant Cardiac arrhythmia [RCV001842039]|Cardiovascular phenotype [RCV002456773]|Long QT syndrome [RCV001457323] Chr7:150950274 [GRCh38]
Chr7:150647362 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3134T>G (p.Leu1045Arg) single nucleotide variant Long QT syndrome [RCV001325916] Chr7:150947346 [GRCh38]
Chr7:150644434 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3098G>T (p.Arg1033Leu) single nucleotide variant Long QT syndrome [RCV001369297] Chr7:150947382 [GRCh38]
Chr7:150644470 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2678G>A (p.Arg893Lys) single nucleotide variant Long QT syndrome [RCV001326020] Chr7:150948458 [GRCh38]
Chr7:150645546 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.772C>T (p.Pro258Ser) single nucleotide variant Long QT syndrome [RCV001369478] Chr7:150958203 [GRCh38]
Chr7:150655291 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.740A>G (p.Gln247Arg) single nucleotide variant Long QT syndrome [RCV001365911] Chr7:150958235 [GRCh38]
Chr7:150655323 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.978C>T (p.Arg326=) single nucleotide variant Long QT syndrome [RCV001495112] Chr7:150957441 [GRCh38]
Chr7:150654529 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1243C>T (p.Leu415=) single nucleotide variant Cardiovascular phenotype [RCV002384641]|Long QT syndrome [RCV001430017] Chr7:150952739 [GRCh38]
Chr7:150649827 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2595C>G (p.Thr865=) single nucleotide variant Cardiac arrhythmia [RCV001842103] Chr7:150948541 [GRCh38]
Chr7:150645629 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2146-1G>A single nucleotide variant not provided [RCV001509330] Chr7:150950421 [GRCh38]
Chr7:150647509 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.1188C>T (p.His396=) single nucleotide variant Long QT syndrome [RCV001492392] Chr7:150952794 [GRCh38]
Chr7:150649882 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.966C>G (p.Ser322=) single nucleotide variant Cardiac arrhythmia [RCV001842122]|Cardiovascular phenotype [RCV002384867] Chr7:150957453 [GRCh38]
Chr7:150654541 [GRCh37]
Chr7:7q36.1		 likely benign
NC_000007.13:g.(?_150674916)_(150675011_?)del deletion Long QT syndrome [RCV001380537] Chr7:150674916..150675011 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2535C>T (p.Tyr845=) single nucleotide variant Long QT syndrome [RCV001461307] Chr7:150948913 [GRCh38]
Chr7:150646001 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3054C>A (p.Pro1018=) single nucleotide variant Long QT syndrome [RCV001506448] Chr7:150947426 [GRCh38]
Chr7:150644514 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2676_2680dup (p.Arg894fs) duplication Long QT syndrome [RCV001385331] Chr7:150948455..150948456 [GRCh38]
Chr7:150645543..150645544 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1368C>T (p.Asp456=) single nucleotide variant Long QT syndrome [RCV001439059] Chr7:150952614 [GRCh38]
Chr7:150649702 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.279A>G (p.Lys93=) single nucleotide variant Long QT syndrome [RCV001441939] Chr7:150974739 [GRCh38]
Chr7:150671827 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter) single nucleotide variant Long QT syndrome 2 [RCV002471107]|Long QT syndrome [RCV001390279]|not provided [RCV003317494] Chr7:150958158 [GRCh38]
Chr7:150655246 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.3095G>C (p.Arg1032Pro) single nucleotide variant Cardiac arrhythmia [RCV001842060] Chr7:150947385 [GRCh38]
Chr7:150644473 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2007C>T (p.Gly669=) single nucleotide variant Cardiac arrhythmia [RCV001842067] Chr7:150951059 [GRCh38]
Chr7:150648147 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2710G>A (p.Glu904Lys) single nucleotide variant Cardiac arrhythmia [RCV001842070] Chr7:150947861 [GRCh38]
Chr7:150644949 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1182C>T (p.Arg394=) single nucleotide variant Long QT syndrome [RCV001466494] Chr7:150952800 [GRCh38]
Chr7:150649888 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1557+8C>T single nucleotide variant Long QT syndrome [RCV001475723] Chr7:150952417 [GRCh38]
Chr7:150649505 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1383C>A (p.Ile461=) single nucleotide variant Long QT syndrome [RCV001486749] Chr7:150952599 [GRCh38]
Chr7:150649687 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.77-1G>T single nucleotide variant Cardiac arrhythmia [RCV001842092] Chr7:150974942 [GRCh38]
Chr7:150672030 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.270G>A (p.Glu90=) single nucleotide variant Long QT syndrome [RCV001492944] Chr7:150974748 [GRCh38]
Chr7:150671836 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.9G>A (p.Val3=) single nucleotide variant Long QT syndrome [RCV001486998] Chr7:150977905 [GRCh38]
Chr7:150674993 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.564G>A (p.Ala188=) single nucleotide variant Cardiovascular phenotype [RCV002351012]|Long QT syndrome [RCV001489487] Chr7:150958411 [GRCh38]
Chr7:150655499 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.473-4G>T single nucleotide variant Long QT syndrome [RCV001398269] Chr7:150958506 [GRCh38]
Chr7:150655594 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1224C>T (p.Ala408=) single nucleotide variant Cardiac arrhythmia [RCV003591872]|Cardiovascular phenotype [RCV002368419]|Long QT syndrome [RCV001463472] Chr7:150952758 [GRCh38]
Chr7:150649846 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.504C>A (p.Pro168=) single nucleotide variant Long QT syndrome [RCV001503922] Chr7:150958471 [GRCh38]
Chr7:150655559 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1796G>A (p.Ser599Asn) single nucleotide variant Cardiac arrhythmia [RCV001842143] Chr7:150951597 [GRCh38]
Chr7:150648685 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.543G>A (p.Arg181=) single nucleotide variant Long QT syndrome [RCV001493411] Chr7:150958432 [GRCh38]
Chr7:150655520 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.684G>C (p.Ala228=) single nucleotide variant Long QT syndrome [RCV001501634] Chr7:150958291 [GRCh38]
Chr7:150655379 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3152+4A>C single nucleotide variant Cardiac arrhythmia [RCV001842159] Chr7:150947324 [GRCh38]
Chr7:150644412 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2604C>T (p.Ile868=) single nucleotide variant Long QT syndrome [RCV001464518] Chr7:150948532 [GRCh38]
Chr7:150645620 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.606C>T (p.Pro202=) single nucleotide variant Cardiovascular phenotype [RCV002359096]|Long QT syndrome [RCV001488363] Chr7:150958369 [GRCh38]
Chr7:150655457 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1407C>A (p.Ile469=) single nucleotide variant Long QT syndrome [RCV001453074] Chr7:150952575 [GRCh38]
Chr7:150649663 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.585G>A (p.Val195=) single nucleotide variant Long QT syndrome [RCV001424124] Chr7:150958390 [GRCh38]
Chr7:150655478 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2966-5T>C single nucleotide variant Long QT syndrome [RCV001493641] Chr7:150947519 [GRCh38]
Chr7:150644607 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2383G>A (p.Val795Ile) single nucleotide variant Cardiac arrhythmia [RCV001842054]|Cardiovascular phenotype [RCV002458502]|Long QT syndrome [RCV002568049] Chr7:150950183 [GRCh38]
Chr7:150647271 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150644460)_150650773dup duplication Long QT syndrome [RCV001379993]   likely pathogenic
NM_000238.4(KCNH2):c.2146-191C>T single nucleotide variant not provided [RCV001581913] Chr7:150950611 [GRCh38]
Chr7:150647699 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1311A>G (p.Glu437=) single nucleotide variant Cardiac arrhythmia [RCV001842035]|Long QT syndrome [RCV001445866] Chr7:150952671 [GRCh38]
Chr7:150649759 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2193C>T (p.His731=) single nucleotide variant Cardiovascular phenotype [RCV002420940]|Long QT syndrome [RCV001416997] Chr7:150950373 [GRCh38]
Chr7:150647461 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3097_3106dup (p.Gly1036fs) duplication Long QT syndrome [RCV001384658] Chr7:150947373..150947374 [GRCh38]
Chr7:150644461..150644462 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2398+372A>T single nucleotide variant not provided [RCV001540178] Chr7:150949796 [GRCh38]
Chr7:150646884 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.544_556del (p.Ser182fs) deletion Long QT syndrome [RCV001381148] Chr7:150958419..150958431 [GRCh38]
Chr7:150655507..150655519 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.486C>T (p.Thr162=) single nucleotide variant Long QT syndrome [RCV001430159] Chr7:150958489 [GRCh38]
Chr7:150655577 [GRCh37]
Chr7:7q36.1		 likely benign
NC_000007.13:g.(?_150642443)_(151385353_?)del deletion Long QT syndrome [RCV001380536] Chr7:150642443..151385353 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3429G>T (p.Gly1143=) single nucleotide variant Long QT syndrome [RCV001441014] Chr7:150945416 [GRCh38]
Chr7:150642504 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.473-6C>T single nucleotide variant Long QT syndrome [RCV001400997]|not provided [RCV001702592]|not specified [RCV001700740] Chr7:150958508 [GRCh38]
Chr7:150655596 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.504C>T (p.Pro168=) single nucleotide variant Cardiovascular phenotype [RCV002341881]|Long QT syndrome [RCV001409854] Chr7:150958471 [GRCh38]
Chr7:150655559 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.756G>A (p.Arg252=) single nucleotide variant Long QT syndrome [RCV001430797] Chr7:150958219 [GRCh38]
Chr7:150655307 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2304A>G (p.Thr768=) single nucleotide variant Long QT syndrome [RCV001407517] Chr7:150950262 [GRCh38]
Chr7:150647350 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3255dup (p.Pro1086fs) duplication Long QT syndrome [RCV001390113] Chr7:150946951..150946952 [GRCh38]
Chr7:150644039..150644040 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1266T>C (p.Ala422=) single nucleotide variant Long QT syndrome [RCV001407734] Chr7:150952716 [GRCh38]
Chr7:150649804 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.798C>T (p.Ser266=) single nucleotide variant Cardiovascular phenotype [RCV002421009]|Long QT syndrome [RCV001446977] Chr7:150958177 [GRCh38]
Chr7:150655265 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2889C>G (p.Pro963=) single nucleotide variant Long QT syndrome [RCV001431120] Chr7:150947682 [GRCh38]
Chr7:150644770 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.237C>T (p.Ala79=) single nucleotide variant Long QT syndrome [RCV001417402] Chr7:150974781 [GRCh38]
Chr7:150671869 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.426T>C (p.Ala142=) single nucleotide variant Long QT syndrome [RCV001436179] Chr7:150959618 [GRCh38]
Chr7:150656706 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3101_3108del (p.Pro1034fs) deletion Long QT syndrome [RCV001387551] Chr7:150947372..150947379 [GRCh38]
Chr7:150644460..150644467 [GRCh37]
Chr7:7q36.1		 pathogenic
NC_000007.13:g.(?_150642447)_(150656830_?)del deletion Long QT syndrome [RCV001380539] Chr7:150642447..150656830 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2692+8G>C single nucleotide variant Long QT syndrome [RCV001407755] Chr7:150948436 [GRCh38]
Chr7:150645524 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2757C>T (p.Ser919=) single nucleotide variant Long QT syndrome [RCV001423944] Chr7:150947814 [GRCh38]
Chr7:150644902 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2682_2685dup (p.Asp896fs) duplication Long QT syndrome [RCV001390484] Chr7:150948450..150948451 [GRCh38]
Chr7:150645538..150645539 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.720G>C (p.Pro240=) single nucleotide variant Long QT syndrome [RCV001424065] Chr7:150958255 [GRCh38]
Chr7:150655343 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2555del (p.Phe852fs) deletion Long QT syndrome [RCV001380683] Chr7:150948893 [GRCh38]
Chr7:150645981 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2250C>T (p.Cys750=) single nucleotide variant Long QT syndrome [RCV001431812] Chr7:150950316 [GRCh38]
Chr7:150647404 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.774C>G (p.Pro258=) single nucleotide variant Long QT syndrome [RCV001438932] Chr7:150958201 [GRCh38]
Chr7:150655289 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2910G>A (p.Gly970=) single nucleotide variant Long QT syndrome [RCV001408879] Chr7:150947661 [GRCh38]
Chr7:150644749 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2625G>A (p.Thr875=) single nucleotide variant Cardiovascular phenotype [RCV002432131]|Long QT syndrome [RCV001408982] Chr7:150948511 [GRCh38]
Chr7:150645599 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.567C>G (p.Gly189=) single nucleotide variant Long QT syndrome [RCV001448194] Chr7:150958408 [GRCh38]
Chr7:150655496 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.735C>T (p.Pro245=) single nucleotide variant Cardiovascular phenotype [RCV003170041]|Long QT syndrome [RCV001409177] Chr7:150958240 [GRCh38]
Chr7:150655328 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.834C>T (p.Ser278=) single nucleotide variant Long QT syndrome [RCV001438483] Chr7:150958141 [GRCh38]
Chr7:150655229 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.258G>T (p.Leu86=) single nucleotide variant Long QT syndrome [RCV001409323] Chr7:150974760 [GRCh38]
Chr7:150671848 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1146C>G (p.Ala382=) single nucleotide variant Cardiovascular phenotype [RCV002456652]|Long QT syndrome [RCV001409367] Chr7:150952836 [GRCh38]
Chr7:150649924 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1929G>A single nucleotide variant not provided [RCV001590448] Chr7:150955362 [GRCh38]
Chr7:150652450 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.816C>G (p.Ser272=) single nucleotide variant Cardiovascular phenotype [RCV002421103]|Long QT syndrome [RCV001482049] Chr7:150958159 [GRCh38]
Chr7:150655247 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1251G>C (p.Leu417=) single nucleotide variant Cardiovascular phenotype [RCV003298826]|Long QT syndrome [RCV001473250] Chr7:150952731 [GRCh38]
Chr7:150649819 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.695_700del (p.Arg232_Ala233del) deletion Long QT syndrome [RCV002564283]|not provided [RCV001509331] Chr7:150958275..150958280 [GRCh38]
Chr7:150655363..150655368 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1509G>A (p.Val503=) single nucleotide variant Cardiac arrhythmia [RCV001842152]|Long QT syndrome [RCV001873694]|not provided [RCV001692435] Chr7:150952473 [GRCh38]
Chr7:150649561 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.3222C>T (p.Val1074=) single nucleotide variant Long QT syndrome [RCV001451384] Chr7:150946985 [GRCh38]
Chr7:150644073 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2313T>C (p.His771=) single nucleotide variant Long QT syndrome [RCV001499478] Chr7:150950253 [GRCh38]
Chr7:150647341 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2145+15G>T single nucleotide variant not provided [RCV001645912] Chr7:150950906 [GRCh38]
Chr7:150647994 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.3414A>T (p.Leu1138=) single nucleotide variant Long QT syndrome [RCV001459240] Chr7:150945431 [GRCh38]
Chr7:150642519 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2448C>G (p.Gly816=) single nucleotide variant Long QT syndrome [RCV001462589] Chr7:150949000 [GRCh38]
Chr7:150646088 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2685G>T (p.Thr895=) single nucleotide variant Cardiac arrhythmia [RCV003591873]|Cardiovascular phenotype [RCV002456832]|Long QT syndrome [RCV001477204] Chr7:150948451 [GRCh38]
Chr7:150645539 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.473-53C>T single nucleotide variant not provided [RCV001715596] Chr7:150958555 [GRCh38]
Chr7:150655643 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2146-9T>G single nucleotide variant not provided [RCV001715604] Chr7:150950429 [GRCh38]
Chr7:150647517 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.131G>A (p.Cys44Tyr) single nucleotide variant Long QT syndrome [RCV003533011]|not provided [RCV001581933] Chr7:150974887 [GRCh38]
Chr7:150671975 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.2692+18A>G single nucleotide variant Long QT syndrome [RCV003647849]|not provided [RCV001716664] Chr7:150948426 [GRCh38]
Chr7:150645514 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2022C>T (p.His674=) single nucleotide variant Long QT syndrome [RCV001481117] Chr7:150951044 [GRCh38]
Chr7:150648132 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1371C>G (p.Leu457=) single nucleotide variant Long QT syndrome [RCV001460552] Chr7:150952611 [GRCh38]
Chr7:150649699 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1946-7C>T single nucleotide variant Long QT syndrome [RCV001453824] Chr7:150951127 [GRCh38]
Chr7:150648215 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.576G>A (p.Gly192=) single nucleotide variant Long QT syndrome [RCV002070484]|not provided [RCV001616517] Chr7:150958399 [GRCh38]
Chr7:150655487 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.76+1dup duplication not provided [RCV001583367] Chr7:150977836..150977837 [GRCh38]
Chr7:150674924..150674925 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2121C>T (p.Tyr707=) single nucleotide variant Cardiac arrhythmia [RCV001842087]|Long QT syndrome [RCV002071880] Chr7:150950945 [GRCh38]
Chr7:150648033 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.258G>A (p.Leu86=) single nucleotide variant Cardiac arrhythmia [RCV001842088] Chr7:150974760 [GRCh38]
Chr7:150671848 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.987C>G (p.Thr329=) single nucleotide variant Cardiovascular phenotype [RCV002384715]|Long QT syndrome [RCV001456779] Chr7:150957432 [GRCh38]
Chr7:150654520 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2931_2932insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu978fs) insertion Long QT syndrome [RCV001386813] Chr7:150947639..150947640 [GRCh38]
Chr7:150644727..150644728 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1788C>G (p.Pro596=) single nucleotide variant Long QT syndrome [RCV001399421] Chr7:150951605 [GRCh38]
Chr7:150648693 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.449C>T (p.Pro150Leu) single nucleotide variant Cardiac arrhythmia [RCV001842112]|Cardiovascular phenotype [RCV002329655]|Long QT syndrome [RCV003771598] Chr7:150959595 [GRCh38]
Chr7:150656683 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.195C>T (p.Thr65=) single nucleotide variant Cardiac arrhythmia [RCV001842117] Chr7:150974823 [GRCh38]
Chr7:150671911 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1420_1472del (p.Thr474fs) deletion Long QT syndrome [RCV001381096] Chr7:150952510..150952562 [GRCh38]
Chr7:150649598..150649650 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3081C>T (p.Leu1027=) single nucleotide variant Cardiac arrhythmia [RCV003591868]|Cardiovascular phenotype [RCV002319716]|Long QT syndrome [RCV001442253] Chr7:150947399 [GRCh38]
Chr7:150644487 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.517C>T (p.Leu173=) single nucleotide variant Cardiovascular phenotype [RCV002342051]|Long QT syndrome [RCV001467106] Chr7:150958458 [GRCh38]
Chr7:150655546 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2697G>A (p.Thr899=) single nucleotide variant Long QT syndrome [RCV001401509] Chr7:150947874 [GRCh38]
Chr7:150644962 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.888G>C (p.Leu296=) single nucleotide variant Cardiovascular phenotype [RCV002377716]|Long QT syndrome [RCV001439567] Chr7:150958087 [GRCh38]
Chr7:150655175 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2673C>T (p.Phe891=) single nucleotide variant Cardiac arrhythmia [RCV001842138]|Long QT syndrome [RCV002070327] Chr7:150948463 [GRCh38]
Chr7:150645551 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2208G>A (p.Leu736=) single nucleotide variant Long QT syndrome [RCV001497283] Chr7:150950358 [GRCh38]
Chr7:150647446 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.39C>T (p.Thr13=) single nucleotide variant Long QT syndrome [RCV001465834] Chr7:150977875 [GRCh38]
Chr7:150674963 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.893del (p.Pro298fs) deletion Long QT syndrome [RCV001391025] Chr7:150958082 [GRCh38]
Chr7:150655170 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1416C>T (p.Arg472=) single nucleotide variant Long QT syndrome [RCV001455676] Chr7:150952566 [GRCh38]
Chr7:150649654 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.165G>C (p.Ser55=) single nucleotide variant Long QT syndrome [RCV001506352] Chr7:150974853 [GRCh38]
Chr7:150671941 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1073T>A (p.Ile358Asn) single nucleotide variant Cardiac arrhythmia [RCV001842146] Chr7:150957346 [GRCh38]
Chr7:150654434 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1674G>T (p.Ala558=) single nucleotide variant Cardiac arrhythmia [RCV001842153]|Long QT syndrome [RCV002071888] Chr7:150951719 [GRCh38]
Chr7:150648807 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.675C>T (p.Leu225=) single nucleotide variant Cardiovascular phenotype [RCV002377624]|Long QT syndrome [RCV001406330]|not provided [RCV001673053] Chr7:150958300 [GRCh38]
Chr7:150655388 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2880C>T (p.Ser960=) single nucleotide variant Long QT syndrome [RCV001478452] Chr7:150947691 [GRCh38]
Chr7:150644779 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.472+7G>A single nucleotide variant Long QT syndrome [RCV001479314] Chr7:150959565 [GRCh38]
Chr7:150656653 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2934G>A (p.Glu978=) single nucleotide variant Long QT syndrome [RCV001496553] Chr7:150947637 [GRCh38]
Chr7:150644725 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1041C>G (p.Pro347=) single nucleotide variant Long QT syndrome [RCV001415855] Chr7:150957378 [GRCh38]
Chr7:150654466 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2958C>T (p.Pro986=) single nucleotide variant Cardiac arrhythmia [RCV001841221]|Long QT syndrome [RCV001419965] Chr7:150947613 [GRCh38]
Chr7:150644701 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.657C>T (p.Asp219=) single nucleotide variant Long QT syndrome [RCV001398093] Chr7:150958318 [GRCh38]
Chr7:150655406 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.603G>T (p.Thr201=) single nucleotide variant Long QT syndrome [RCV001436668] Chr7:150958372 [GRCh38]
Chr7:150655460 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.221_242del (p.Thr74fs) deletion Long QT syndrome [RCV001382272]|not provided [RCV001509332] Chr7:150974776..150974797 [GRCh38]
Chr7:150671864..150671885 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.1558-4C>T single nucleotide variant Cardiac arrhythmia [RCV001842066]|Long QT syndrome [RCV003771578] Chr7:150951839 [GRCh38]
Chr7:150648927 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.955_956del (p.Thr319fs) deletion Long QT syndrome [RCV001385615] Chr7:150957463..150957464 [GRCh38]
Chr7:150654551..150654552 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1582C>A (p.Arg528=) single nucleotide variant Long QT syndrome [RCV001424048] Chr7:150951811 [GRCh38]
Chr7:150648899 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1530G>A (p.Leu510=) single nucleotide variant Cardiac arrhythmia [RCV001842083] Chr7:150952452 [GRCh38]
Chr7:150649540 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu) single nucleotide variant Long QT syndrome [RCV001377273] Chr7:150951565 [GRCh38]
Chr7:150648653 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NC_000007.13:g.(?_150644406)_(150644976_?)del deletion Long QT syndrome [RCV001380538] Chr7:150644406..150644976 [GRCh37]
Chr7:7q36.1		 pathogenic
NC_000007.13:g.(?_150654369)_(150656834_?)del deletion Long QT syndrome [RCV001380540] Chr7:150654369..150656834 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1833T>C (p.Tyr611=) single nucleotide variant Long QT syndrome [RCV001404806] Chr7:150951560 [GRCh38]
Chr7:150648648 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3333T>C (p.Val1111=) single nucleotide variant Cardiac arrhythmia [RCV003591870]|Long QT syndrome [RCV001454852] Chr7:150945512 [GRCh38]
Chr7:150642600 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2751G>A (p.Pro917=) single nucleotide variant Cardiac arrhythmia [RCV001842042]|Long QT syndrome [RCV001462086]|not provided [RCV001675995] Chr7:150947820 [GRCh38]
Chr7:150644908 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1215C>G (p.Pro405=) single nucleotide variant Long QT syndrome [RCV001441450] Chr7:150952767 [GRCh38]
Chr7:150649855 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1566G>C (p.Gly522=) single nucleotide variant Long QT syndrome [RCV001400945] Chr7:150951827 [GRCh38]
Chr7:150648915 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2775del (p.Pro926fs) deletion Cardiac arrhythmia [RCV003591864]|Long QT syndrome [RCV001387552] Chr7:150947796 [GRCh38]
Chr7:150644884 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.912C>T (p.Ser304=) single nucleotide variant Long QT syndrome [RCV001402572] Chr7:150958063 [GRCh38]
Chr7:150655151 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.76+1G>A single nucleotide variant Long QT syndrome [RCV001377644] Chr7:150977837 [GRCh38]
Chr7:150674925 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2648G>A (p.Arg883Gln) single nucleotide variant Cardiac arrhythmia [RCV001842100]|Cardiovascular phenotype [RCV002424963]|Long QT syndrome [RCV001872059] Chr7:150948488 [GRCh38]
Chr7:150645576 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.258G>C (p.Leu86=) single nucleotide variant Long QT syndrome [RCV001505775] Chr7:150974760 [GRCh38]
Chr7:150671848 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3384C>T (p.Pro1128=) single nucleotide variant Cardiovascular phenotype [RCV003365380]|Long QT syndrome [RCV001402608]|not specified [RCV002307744] Chr7:150945461 [GRCh38]
Chr7:150642549 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2399-28del deletion Long QT syndrome 2 [RCV001726510] Chr7:150949077 [GRCh38]
Chr7:150646165 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1251G>A (p.Leu417=) single nucleotide variant Long QT syndrome [RCV002539771]|not provided [RCV001727429] Chr7:150952731 [GRCh38]
Chr7:150649819 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+5_1128+15delinsAC indel Long QT syndrome 2 [RCV001726532] Chr7:150957276..150957286 [GRCh38]
Chr7:150654364..150654374 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.238G>A (p.Ala80Thr) single nucleotide variant not provided [RCV001758843] Chr7:150974780 [GRCh38]
Chr7:150671868 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1907C>T (p.Ser636Leu) single nucleotide variant not provided [RCV001762984] Chr7:150951486 [GRCh38]
Chr7:150648574 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3403_3406dup (p.Leu1136fs) duplication not provided [RCV001752310] Chr7:150945438..150945439 [GRCh38]
Chr7:150642526..150642527 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.578C>T (p.Ala193Val) single nucleotide variant Long QT syndrome [RCV003120664]|not provided [RCV001752311] Chr7:150958397 [GRCh38]
Chr7:150655485 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.273G>T (p.Glu91Asp) single nucleotide variant Cardiac arrhythmia [RCV003591890]|not provided [RCV001765251] Chr7:150974745 [GRCh38]
Chr7:150671833 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3054C>T (p.Pro1018=) single nucleotide variant Cardiovascular phenotype [RCV002449424]|not provided [RCV001776639] Chr7:150947426 [GRCh38]
Chr7:150644514 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.774_789del (p.Asp259fs) deletion not provided [RCV001783500] Chr7:150958186..150958201 [GRCh38]
Chr7:150655274..150655289 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.567_575dup (p.Ala193_Val194insProGlyAla) duplication Cardiovascular phenotype [RCV002343825]|Long QT syndrome [RCV001868418]|not provided [RCV001763459] Chr7:150958399..150958400 [GRCh38]
Chr7:150655487..150655488 [GRCh37]
Chr7:7q36.1		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_000238.4(KCNH2):c.2763C>A (p.Gly921=) single nucleotide variant not provided [RCV001816484] Chr7:150947808 [GRCh38]
Chr7:150644896 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2634G>T (p.Glu878Asp) single nucleotide variant Long QT syndrome [RCV001861067]|not provided [RCV001758330] Chr7:150948502 [GRCh38]
Chr7:150645590 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.41del (p.Phe14fs) deletion not provided [RCV001815966] Chr7:150977873 [GRCh38]
Chr7:150674961 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.137A>G (p.Asp46Gly) single nucleotide variant Long QT syndrome [RCV002032795]|not provided [RCV001758260] Chr7:150974881 [GRCh38]
Chr7:150671969 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2398+235G>A single nucleotide variant not provided [RCV001758820] Chr7:150949933 [GRCh38]
Chr7:150647021 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1026C>T (p.Asp342=) single nucleotide variant Cardiac arrhythmia [RCV001842196]|Cardiovascular phenotype [RCV002386573] Chr7:150957393 [GRCh38]
Chr7:150654481 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.-9G>A single nucleotide variant not specified [RCV001806797] Chr7:150977922 [GRCh38]
Chr7:150675010 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+1G>A single nucleotide variant Long QT syndrome [RCV002542466]|Prolonged QT interval [RCV001815634] Chr7:150957290 [GRCh38]
Chr7:150654378 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.3065T>C (p.Leu1022Pro) single nucleotide variant Cardiac arrhythmia [RCV001842200] Chr7:150947415 [GRCh38]
Chr7:150644503 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1597G>C (p.Val533Leu) single nucleotide variant Cardiac arrhythmia [RCV001842176] Chr7:150951796 [GRCh38]
Chr7:150648884 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2672_2673delinsAT (p.Phe891Tyr) indel Cardiac arrhythmia [RCV001842175] Chr7:150948463..150948464 [GRCh38]
Chr7:150645551..150645552 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2157C>T (p.Gly719=) single nucleotide variant Cardiac arrhythmia [RCV001842222]|Long QT syndrome [RCV002074213] Chr7:150950409 [GRCh38]
Chr7:150647497 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1536C>T (p.Ile512=) single nucleotide variant Cardiac arrhythmia [RCV001842225] Chr7:150952446 [GRCh38]
Chr7:150649534 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1101C>G (p.Thr367=) single nucleotide variant Cardiac arrhythmia [RCV001842216] Chr7:150957318 [GRCh38]
Chr7:150654406 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2653C>A (p.Arg885Ser) single nucleotide variant Cardiac arrhythmia [RCV001842204]|Long QT syndrome [RCV001869541] Chr7:150948483 [GRCh38]
Chr7:150645571 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2577C>G (p.Thr859=) single nucleotide variant Cardiac arrhythmia [RCV001842208] Chr7:150948871 [GRCh38]
Chr7:150645959 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1018T>C (p.Phe340Leu) single nucleotide variant Cardiac arrhythmia [RCV001842209] Chr7:150957401 [GRCh38]
Chr7:150654489 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3153-18C>T single nucleotide variant Long QT syndrome [RCV002074166]|Short QT syndrome type 1 [RCV002489852]|not provided [RCV001811955] Chr7:150947072 [GRCh38]
Chr7:150644160 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.2033T>G (p.Leu678Arg) single nucleotide variant not provided [RCV001811907] Chr7:150951033 [GRCh38]
Chr7:150648121 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.184C>A (p.Arg62=) single nucleotide variant Cardiac arrhythmia [RCV001842191]|Long QT syndrome [RCV002074195] Chr7:150974834 [GRCh38]
Chr7:150671922 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3101_3102insGTCGCGGCC (p.Pro1034_Arg1035insSerArgPro) insertion Cardiac arrhythmia [RCV001842202] Chr7:150947378..150947379 [GRCh38]
Chr7:150644466..150644467 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.315C>T (p.Cys105=) single nucleotide variant Cardiac arrhythmia [RCV001842165]|Cardiovascular phenotype [RCV002324207]|Long QT syndrome [RCV002074181] Chr7:150959729 [GRCh38]
Chr7:150656817 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2200C>G (p.Arg734Gly) single nucleotide variant Cardiac arrhythmia [RCV001842187] Chr7:150950366 [GRCh38]
Chr7:150647454 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.929C>T (p.Pro310Leu) single nucleotide variant Cardiac arrhythmia [RCV001842189] Chr7:150957490 [GRCh38]
Chr7:150654578 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1186C>T (p.His396Tyr) single nucleotide variant Cardiac arrhythmia [RCV001842207] Chr7:150952796 [GRCh38]
Chr7:150649884 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2541G>T (p.Glu847Asp) single nucleotide variant Cardiac arrhythmia [RCV001842220] Chr7:150948907 [GRCh38]
Chr7:150645995 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2203T>G (p.Ser735Ala) single nucleotide variant Cardiac arrhythmia [RCV001842221] Chr7:150950363 [GRCh38]
Chr7:150647451 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_000238.4(KCNH2):c.418del (p.Ser140fs) deletion Long QT syndrome 2 [RCV001823315] Chr7:150959626 [GRCh38]
Chr7:150656714 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2931_2941dup (p.Ser981fs) duplication Long QT syndrome [RCV001915043] Chr7:150947629..150947630 [GRCh38]
Chr7:150644717..150644718 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1945+20G>T single nucleotide variant Long QT syndrome [RCV001863986] Chr7:150951428 [GRCh38]
Chr7:150648516 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2984C>A (p.Ser995Tyr) single nucleotide variant Long QT syndrome [RCV002022813]|not provided [RCV003134339] Chr7:150947496 [GRCh38]
Chr7:150644584 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.476G>A (p.Arg159His) single nucleotide variant Cardiovascular phenotype [RCV003355661]|Long QT syndrome [RCV001927043] Chr7:150958499 [GRCh38]
Chr7:150655587 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.917-2A>G single nucleotide variant Long QT syndrome [RCV001988461] Chr7:150957504 [GRCh38]
Chr7:150654592 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.3086_3087dup (p.Pro1030fs) duplication Long QT syndrome [RCV002007506] Chr7:150947392..150947393 [GRCh38]
Chr7:150644480..150644481 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1871G>A (p.Ser624Asn) single nucleotide variant Cardiovascular phenotype [RCV002406969]|Long QT syndrome [RCV001894979]|Short QT syndrome type 1 [RCV002490051] Chr7:150951522 [GRCh38]
Chr7:150648610 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.598C>G (p.Leu200Val) single nucleotide variant Long QT syndrome [RCV001889379] Chr7:150958377 [GRCh38]
Chr7:150655465 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.195_210dup (p.Gly71fs) duplication Long QT syndrome [RCV001970216] Chr7:150974807..150974808 [GRCh38]
Chr7:150671895..150671896 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3094C>G (p.Arg1032Gly) single nucleotide variant Long QT syndrome [RCV002025003] Chr7:150947386 [GRCh38]
Chr7:150644474 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2896G>A (p.Glu966Lys) single nucleotide variant Cardiac arrhythmia [RCV003591907]|Long QT syndrome [RCV001966822] Chr7:150947675 [GRCh38]
Chr7:150644763 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2987A>G (p.Asn996Ser) single nucleotide variant Long QT syndrome [RCV001929491] Chr7:150947493 [GRCh38]
Chr7:150644581 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1823A>G (p.Lys608Arg) single nucleotide variant Long QT syndrome [RCV002025686] Chr7:150951570 [GRCh38]
Chr7:150648658 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.856GAC[3] (p.Asp287_Ile288insAsp) microsatellite Long QT syndrome [RCV002042718] Chr7:150958113..150958114 [GRCh38]
Chr7:150655201..150655202 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3206G>A (p.Arg1069Lys) single nucleotide variant Long QT syndrome [RCV001890006] Chr7:150947001 [GRCh38]
Chr7:150644089 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2592T>C (p.Asp864=) single nucleotide variant Long QT syndrome [RCV001968702] Chr7:150948856 [GRCh38]
Chr7:150645944 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3466G>C (p.Asp1156His) single nucleotide variant Long QT syndrome [RCV001927401] Chr7:150945379 [GRCh38]
Chr7:150642467 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1 copy number loss not provided [RCV001832910] Chr7:148695373..159119707 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NC_000007.13:g.(?_150642453)_(150649961_?)del deletion Long QT syndrome [RCV001911532] Chr7:150642453..150649961 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1954T>C (p.Tyr652His) single nucleotide variant Long QT syndrome [RCV001966378] Chr7:150951112 [GRCh38]
Chr7:150648200 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2058C>A (p.Phe686Leu) single nucleotide variant Long QT syndrome [RCV001966435] Chr7:150951008 [GRCh38]
Chr7:150648096 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1038C>A (p.Asp346Glu) single nucleotide variant Long QT syndrome [RCV001983534] Chr7:150957381 [GRCh38]
Chr7:150654469 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2675G>T (p.Arg892Leu) single nucleotide variant Long QT syndrome [RCV003647858]|not provided [RCV001847440] Chr7:150948461 [GRCh38]
Chr7:150645549 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.323G>A (p.Cys108Tyr) single nucleotide variant Long QT syndrome [RCV001985072] Chr7:150959721 [GRCh38]
Chr7:150656809 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3171T>G (p.Ser1057Arg) single nucleotide variant Long QT syndrome [RCV001945520] Chr7:150947036 [GRCh38]
Chr7:150644124 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2135A>G (p.Asp712Gly) single nucleotide variant Long QT syndrome [RCV002042391] Chr7:150950931 [GRCh38]
Chr7:150648019 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3039del (p.Arg1014fs) deletion Long QT syndrome [RCV001926318] Chr7:150947441 [GRCh38]
Chr7:150644529 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.464del (p.Leu155fs) deletion Long QT syndrome [RCV002002532] Chr7:150959580 [GRCh38]
Chr7:150656668 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1393G>A (p.Val465Met) single nucleotide variant Long QT syndrome [RCV002006018] Chr7:150952589 [GRCh38]
Chr7:150649677 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3 copy number gain not provided [RCV001827941] Chr7:148153261..157543640 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NM_000238.4(KCNH2):c.2230C>G (p.Arg744Gly) single nucleotide variant Long QT syndrome [RCV002021198] Chr7:150950336 [GRCh38]
Chr7:150647424 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2682C>T (p.Arg894=) single nucleotide variant Long QT syndrome [RCV001910757] Chr7:150948454 [GRCh38]
Chr7:150645542 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2684del (p.Thr895fs) deletion Long QT syndrome [RCV001946622] Chr7:150948452 [GRCh38]
Chr7:150645540 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1611G>A (p.Arg537=) single nucleotide variant Long QT syndrome [RCV001968555] Chr7:150951782 [GRCh38]
Chr7:150648870 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1558-20G>A single nucleotide variant Long QT syndrome [RCV001967527] Chr7:150951855 [GRCh38]
Chr7:150648943 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1558-1G>C single nucleotide variant Long QT syndrome [RCV001969463] Chr7:150951836 [GRCh38]
Chr7:150648924 [GRCh37]
Chr7:7q36.1		 likely pathogenic
GRCh37/hg19 7q36.1(chr7:150109825-150700159) copy number gain not specified [RCV002053744] Chr7:150109825..150700159 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2636G>A (p.Gly879Asp) single nucleotide variant Long QT syndrome [RCV002043051] Chr7:150948500 [GRCh38]
Chr7:150645588 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1747A>C (p.Ile583Leu) single nucleotide variant Cardiovascular phenotype [RCV002397781]|Long QT syndrome [RCV002044587] Chr7:150951646 [GRCh38]
Chr7:150648734 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.947T>A (p.Leu316His) single nucleotide variant Long QT syndrome [RCV002023214] Chr7:150957472 [GRCh38]
Chr7:150654560 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1793A>G (p.Asn598Ser) single nucleotide variant Long QT syndrome [RCV002043212] Chr7:150951600 [GRCh38]
Chr7:150648688 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2743del (p.Ala915fs) deletion Long QT syndrome [RCV001914086] Chr7:150947828 [GRCh38]
Chr7:150644916 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2674C>A (p.Arg892Ser) single nucleotide variant Long QT syndrome [RCV001889703] Chr7:150948462 [GRCh38]
Chr7:150645550 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2965+10G>A single nucleotide variant Long QT syndrome [RCV001927978] Chr7:150947596 [GRCh38]
Chr7:150644684 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.748T>A (p.Ser250Thr) single nucleotide variant Long QT syndrome [RCV001945873] Chr7:150958227 [GRCh38]
Chr7:150655315 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.445G>C (p.Gly149Arg) single nucleotide variant Long QT syndrome [RCV001968425] Chr7:150959599 [GRCh38]
Chr7:150656687 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.899C>T (p.Pro300Leu) single nucleotide variant Long QT syndrome [RCV002004707]|Short QT syndrome type 1 [RCV002507684] Chr7:150958076 [GRCh38]
Chr7:150655164 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2419G>A (p.Glu807Lys) single nucleotide variant Long QT syndrome [RCV002021232] Chr7:150949029 [GRCh38]
Chr7:150646117 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2436T>A (p.Tyr812Ter) single nucleotide variant Long QT syndrome [RCV001970040] Chr7:150949012 [GRCh38]
Chr7:150646100 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1684C>A (p.His562Asn) single nucleotide variant Long QT syndrome [RCV001895173] Chr7:150951709 [GRCh38]
Chr7:150648797 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.902_903delinsAT (p.Arg301His) indel Long QT syndrome [RCV001912410] Chr7:150958072..150958073 [GRCh38]
Chr7:150655160..150655161 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.803C>T (p.Ala268Val) single nucleotide variant Long QT syndrome [RCV001928746] Chr7:150958172 [GRCh38]
Chr7:150655260 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.743T>G (p.Leu248Arg) single nucleotide variant Long QT syndrome 2 [RCV002052122] Chr7:150958232 [GRCh38]
Chr7:150655320 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3373C>G (p.Pro1125Ala) single nucleotide variant Long QT syndrome [RCV001927040]|Short QT syndrome type 1 [RCV003228027] Chr7:150945472 [GRCh38]
Chr7:150642560 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3094C>A (p.Arg1032=) single nucleotide variant Cardiovascular phenotype [RCV002324472]|Long QT syndrome [RCV002042831] Chr7:150947386 [GRCh38]
Chr7:150644474 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.1737G>A (p.Met579Ile) single nucleotide variant Long QT syndrome [RCV002005595] Chr7:150951656 [GRCh38]
Chr7:150648744 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.222G>A (p.Thr74=) single nucleotide variant Long QT syndrome [RCV001870836] Chr7:150974796 [GRCh38]
Chr7:150671884 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2398+17G>A single nucleotide variant Long QT syndrome [RCV001913290] Chr7:150950151 [GRCh38]
Chr7:150647239 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.731C>G (p.Ala244Gly) single nucleotide variant Cardiovascular phenotype [RCV002386905]|Long QT syndrome 2 [RCV002471218]|Long QT syndrome [RCV002043381] Chr7:150958244 [GRCh38]
Chr7:150655332 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.383A>C (p.Asn128Thr) single nucleotide variant Long QT syndrome [RCV001927613] Chr7:150959661 [GRCh38]
Chr7:150656749 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1289C>A (p.Ala430Asp) single nucleotide variant Long QT syndrome [RCV001966263] Chr7:150952693 [GRCh38]
Chr7:150649781 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2129G>A (p.Gly710Asp) single nucleotide variant Long QT syndrome [RCV001943085] Chr7:150950937 [GRCh38]
Chr7:150648025 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.157G>T (p.Gly53Cys) single nucleotide variant Cardiovascular phenotype [RCV002398079]|Long QT syndrome [RCV002010371] Chr7:150974861 [GRCh38]
Chr7:150671949 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.803C>G (p.Ala268Gly) single nucleotide variant Long QT syndrome [RCV001940895] Chr7:150958172 [GRCh38]
Chr7:150655260 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.752C>T (p.Pro251Leu) single nucleotide variant Cardiovascular phenotype [RCV002388907]|KCNH2-related condition [RCV003401938]|Long QT syndrome [RCV001953111] Chr7:150958223 [GRCh38]
Chr7:150655311 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2321A>T (p.Asp774Val) single nucleotide variant Long QT syndrome [RCV001944595] Chr7:150950245 [GRCh38]
Chr7:150647333 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.406G>T (p.Asp136Tyr) single nucleotide variant Long QT syndrome [RCV001991288] Chr7:150959638 [GRCh38]
Chr7:150656726 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr) single nucleotide variant Cardiovascular phenotype [RCV002407094]|Long QT syndrome [RCV001924072] Chr7:150951471 [GRCh38]
Chr7:150648559 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.809_821del (p.Thr270fs) deletion Long QT syndrome [RCV002037745] Chr7:150958154..150958166 [GRCh38]
Chr7:150655242..150655254 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2500C>T (p.His834Tyr) single nucleotide variant Long QT syndrome [RCV001997932] Chr7:150948948 [GRCh38]
Chr7:150646036 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.890C>G (p.Pro297Arg) single nucleotide variant Long QT syndrome [RCV002020244] Chr7:150958085 [GRCh38]
Chr7:150655173 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.854C>T (p.Ala285Val) single nucleotide variant Cardiovascular phenotype [RCV002449514]|Long QT syndrome [RCV001877837] Chr7:150958121 [GRCh38]
Chr7:150655209 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1463G>A (p.Arg488His) single nucleotide variant Long QT syndrome [RCV001923189] Chr7:150952519 [GRCh38]
Chr7:150649607 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3205A>T (p.Arg1069Trp) single nucleotide variant Long QT syndrome [RCV001886196] Chr7:150947002 [GRCh38]
Chr7:150644090 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150642443)_(150645641_?)del deletion Long QT syndrome [RCV001942000] Chr7:150642443..150645641 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1558-18C>A single nucleotide variant Long QT syndrome [RCV001887411] Chr7:150951853 [GRCh38]
Chr7:150648941 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1898A>C (p.Asn633Thr) single nucleotide variant Long QT syndrome [RCV001904585] Chr7:150951495 [GRCh38]
Chr7:150648583 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.912C>A (p.Ser304Arg) single nucleotide variant Long QT syndrome [RCV001981195] Chr7:150958063 [GRCh38]
Chr7:150655151 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3087_3092del (p.Pro1030_Gly1031del) deletion Long QT syndrome [RCV001888261] Chr7:150947388..150947393 [GRCh38]
Chr7:150644476..150644481 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2118_2121dup (p.Thr708fs) duplication Long QT syndrome [RCV001999892] Chr7:150950944..150950945 [GRCh38]
Chr7:150648032..150648033 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3458dup (p.His1153fs) duplication Long QT syndrome [RCV001955020] Chr7:150945386..150945387 [GRCh38]
Chr7:150642474..150642475 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2114G>A (p.Trp705Ter) single nucleotide variant Long QT syndrome [RCV001951070] Chr7:150950952 [GRCh38]
Chr7:150648040 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2269A>G (p.Lys757Glu) single nucleotide variant Long QT syndrome [RCV001963535] Chr7:150950297 [GRCh38]
Chr7:150647385 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.472+19G>A single nucleotide variant Long QT syndrome [RCV002019324] Chr7:150959553 [GRCh38]
Chr7:150656641 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.473G>A (p.Gly158Asp) single nucleotide variant Long QT syndrome [RCV001865170] Chr7:150958502 [GRCh38]
Chr7:150655590 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1944C>T (p.Gly648=) single nucleotide variant Long QT syndrome [RCV001866779] Chr7:150951449 [GRCh38]
Chr7:150648537 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1111A>G (p.Thr371Ala) single nucleotide variant Long QT syndrome [RCV002033816] Chr7:150957308 [GRCh38]
Chr7:150654396 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2015G>A (p.Arg672His) single nucleotide variant Cardiovascular phenotype [RCV002423036]|Long QT syndrome [RCV001925712] Chr7:150951051 [GRCh38]
Chr7:150648139 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1840G>T (p.Ala614Ser) single nucleotide variant Long QT syndrome [RCV001990905] Chr7:150951553 [GRCh38]
Chr7:150648641 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.553G>A (p.Ala185Thr) single nucleotide variant Cardiovascular phenotype [RCV002346307]|Long QT syndrome [RCV002026917]|Short QT syndrome type 1 [RCV002486733] Chr7:150958422 [GRCh38]
Chr7:150655510 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1997T>C (p.Leu666Pro) single nucleotide variant Inborn genetic diseases [RCV003375385]|Long QT syndrome [RCV001934955] Chr7:150951069 [GRCh38]
Chr7:150648157 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2965+11_2965+12insAGG insertion Long QT syndrome [RCV001899164] Chr7:150947594..150947595 [GRCh38]
Chr7:150644682..150644683 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.613C>A (p.Pro205Thr) single nucleotide variant Long QT syndrome [RCV001919316] Chr7:150958362 [GRCh38]
Chr7:150655450 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2115G>A (p.Trp705Ter) single nucleotide variant Long QT syndrome [RCV001903743] Chr7:150950951 [GRCh38]
Chr7:150648039 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.712G>T (p.Gly238Cys) single nucleotide variant Cardiovascular phenotype [RCV002361400]|Long QT syndrome [RCV002048208] Chr7:150958263 [GRCh38]
Chr7:150655351 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2399-108_2488del deletion Long QT syndrome [RCV002013166] Chr7:150948960..150949157 [GRCh38]
Chr7:150646048..150646245 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.34A>C (p.Asn12His) single nucleotide variant Long QT syndrome [RCV001898215] Chr7:150977880 [GRCh38]
Chr7:150674968 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1945+18C>T single nucleotide variant Long QT syndrome [RCV001992806]|Short QT syndrome type 1 [RCV002507667]|not specified [RCV003331244] Chr7:150951430 [GRCh38]
Chr7:150648518 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.220_233del (p.Thr74fs) deletion Long QT syndrome [RCV001956514] Chr7:150974785..150974798 [GRCh38]
Chr7:150671873..150671886 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1533C>T (p.Leu511=) single nucleotide variant Long QT syndrome [RCV001900759] Chr7:150952449 [GRCh38]
Chr7:150649537 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2468G>C (p.Arg823Pro) single nucleotide variant Long QT syndrome [RCV001990212] Chr7:150948980 [GRCh38]
Chr7:150646068 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3044G>A (p.Cys1015Tyr) single nucleotide variant Long QT syndrome [RCV001921952] Chr7:150947436 [GRCh38]
Chr7:150644524 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3251C>G (p.Pro1084Arg) single nucleotide variant Long QT syndrome [RCV001864748] Chr7:150946956 [GRCh38]
Chr7:150644044 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3038C>G (p.Pro1013Arg) single nucleotide variant Long QT syndrome [RCV002026051] Chr7:150947442 [GRCh38]
Chr7:150644530 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2146-5C>A single nucleotide variant Long QT syndrome [RCV002051093] Chr7:150950425 [GRCh38]
Chr7:150647513 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2399-28A>T single nucleotide variant Long QT syndrome [RCV001971989] Chr7:150949077 [GRCh38]
Chr7:150646165 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.114C>G (p.Asn38Lys) single nucleotide variant Long QT syndrome [RCV001991634] Chr7:150974904 [GRCh38]
Chr7:150671992 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2462A>T (p.Asp821Val) single nucleotide variant Long QT syndrome [RCV001897272] Chr7:150948986 [GRCh38]
Chr7:150646074 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150653066)_(150655041_?)del deletion Long QT syndrome [RCV001951109] Chr7:150653066..150655041 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.988A>G (p.Ile330Val) single nucleotide variant Long QT syndrome [RCV002012405] Chr7:150957431 [GRCh38]
Chr7:150654519 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.103C>T (p.Arg35Trp) single nucleotide variant Long QT syndrome [RCV001901315] Chr7:150974915 [GRCh38]
Chr7:150672003 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.536C>T (p.Ser179Leu) single nucleotide variant Long QT syndrome [RCV001897264] Chr7:150958439 [GRCh38]
Chr7:150655527 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2536_2537del (p.Tyr845_Pro846insTer) deletion Long QT syndrome [RCV001958050] Chr7:150948911..150948912 [GRCh38]
Chr7:150645999..150646000 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.844G>C (p.Ala282Pro) single nucleotide variant Long QT syndrome [RCV002012486] Chr7:150958131 [GRCh38]
Chr7:150655219 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.422dup (p.Ala142fs) duplication Cardiovascular phenotype [RCV002331533]|Long QT syndrome [RCV001975050] Chr7:150959621..150959622 [GRCh38]
Chr7:150656709..150656710 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.750_751delinsCT (p.Pro251Ser) indel Long QT syndrome [RCV001940179]|Short QT syndrome type 1 [RCV002478370] Chr7:150958224..150958225 [GRCh38]
Chr7:150655312..150655313 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1086G>C (p.Lys362Asn) single nucleotide variant Long QT syndrome [RCV001907422] Chr7:150957333 [GRCh38]
Chr7:150654421 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.665T>C (p.Val222Ala) single nucleotide variant Long QT syndrome [RCV001935973] Chr7:150958310 [GRCh38]
Chr7:150655398 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.695G>C (p.Arg232Pro) single nucleotide variant Long QT syndrome [RCV001937850] Chr7:150958280 [GRCh38]
Chr7:150655368 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1692_1693delinsGA (p.Ala565Thr) indel Long QT syndrome [RCV001958543] Chr7:150951700..150951701 [GRCh38]
Chr7:150648788..150648789 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.622G>A (p.Glu208Lys) single nucleotide variant Long QT syndrome [RCV002050893] Chr7:150958353 [GRCh38]
Chr7:150655441 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150642453)_(151573705_?)dup duplication Lethal congenital glycogen storage disease of heart [RCV001978713] Chr7:150642453..151573705 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.188C>T (p.Pro63Leu) single nucleotide variant Long QT syndrome [RCV001902021] Chr7:150974830 [GRCh38]
Chr7:150671918 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1965C>G (p.Ile655Met) single nucleotide variant Cardiovascular phenotype [RCV002422942]|Long QT syndrome [RCV001900744] Chr7:150951101 [GRCh38]
Chr7:150648189 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.961G>C (p.Asp321His) single nucleotide variant Long QT syndrome [RCV001881486] Chr7:150957458 [GRCh38]
Chr7:150654546 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3314T>C (p.Leu1105Ser) single nucleotide variant Cardiovascular phenotype [RCV003348594]|Long QT syndrome [RCV001922692] Chr7:150946893 [GRCh38]
Chr7:150643981 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1946-1G>C single nucleotide variant Long QT syndrome [RCV002031214] Chr7:150951121 [GRCh38]
Chr7:150648209 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.3105_3109dup (p.Asp1037fs) duplication Long QT syndrome [RCV001930524] Chr7:150947370..150947371 [GRCh38]
Chr7:150644458..150644459 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1524C>A (p.Phe508Leu) single nucleotide variant Long QT syndrome [RCV001875444] Chr7:150952458 [GRCh38]
Chr7:150649546 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2174A>C (p.Gln725Pro) single nucleotide variant Long QT syndrome [RCV001885519] Chr7:150950392 [GRCh38]
Chr7:150647480 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.562_570dup (p.Ala190_Pro191insAlaGlyAla) duplication Long QT syndrome [RCV001957282] Chr7:150958404..150958405 [GRCh38]
Chr7:150655492..150655493 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1629dup (p.Glu544fs) duplication Cardiac arrhythmia [RCV003591901]|Long QT syndrome [RCV001906199] Chr7:150951763..150951764 [GRCh38]
Chr7:150648851..150648852 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3096_3099del (p.Arg1033fs) deletion Long QT syndrome [RCV001939537] Chr7:150947381..150947384 [GRCh38]
Chr7:150644469..150644472 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1557+11C>T single nucleotide variant Long QT syndrome [RCV001973792] Chr7:150952414 [GRCh38]
Chr7:150649502 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.805del (p.Arg269fs) deletion Long QT syndrome [RCV001916343] Chr7:150958170 [GRCh38]
Chr7:150655258 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.552C>T (p.Gly184=) single nucleotide variant Cardiovascular phenotype [RCV002343936]|Long QT syndrome [RCV001878871] Chr7:150958423 [GRCh38]
Chr7:150655511 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.3266C>T (p.Thr1089Ile) single nucleotide variant Long QT syndrome [RCV001989678] Chr7:150946941 [GRCh38]
Chr7:150644029 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1298_1304del (p.Leu433fs) deletion Long QT syndrome [RCV001972696] Chr7:150952678..150952684 [GRCh38]
Chr7:150649766..150649772 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.34A>G (p.Asn12Asp) single nucleotide variant Long QT syndrome [RCV002050417] Chr7:150977880 [GRCh38]
Chr7:150674968 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.272A>T (p.Glu91Val) single nucleotide variant Long QT syndrome [RCV001977218] Chr7:150974746 [GRCh38]
Chr7:150671834 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.485C>G (p.Thr162Ser) single nucleotide variant Long QT syndrome [RCV001998620] Chr7:150958490 [GRCh38]
Chr7:150655578 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2398+3_2398+4del deletion Long QT syndrome [RCV001940442] Chr7:150950164..150950165 [GRCh38]
Chr7:150647252..150647253 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.401A>G (p.Glu134Gly) single nucleotide variant Long QT syndrome [RCV001980657] Chr7:150959643 [GRCh38]
Chr7:150656731 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3043T>C (p.Cys1015Arg) single nucleotide variant Long QT syndrome [RCV001997705] Chr7:150947437 [GRCh38]
Chr7:150644525 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2458_2459insTGTATGCAAGGGCCT (p.Gly820delinsValTyrAlaArgAlaTrp) insertion Long QT syndrome [RCV002017950] Chr7:150948989..150948990 [GRCh38]
Chr7:150646077..150646078 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.473-2A>G single nucleotide variant Long QT syndrome [RCV001959494] Chr7:150958504 [GRCh38]
Chr7:150655592 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2050A>G (p.Ile684Val) single nucleotide variant Long QT syndrome [RCV001997631]|Short QT syndrome type 1 [RCV003224598] Chr7:150951016 [GRCh38]
Chr7:150648104 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2565C>G (p.Ser855Arg) single nucleotide variant Long QT syndrome [RCV001978627] Chr7:150948883 [GRCh38]
Chr7:150645971 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2457C>G (p.Asn819Lys) single nucleotide variant Long QT syndrome [RCV001955482]|Short QT syndrome type 1 [RCV002479511] Chr7:150948991 [GRCh38]
Chr7:150646079 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2564G>A (p.Ser855Asn) single nucleotide variant Cardiovascular phenotype [RCV002425215]|Long QT syndrome [RCV001901530] Chr7:150948884 [GRCh38]
Chr7:150645972 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1724_1729del (p.Glu575_Pro577delinsAla) deletion Long QT syndrome [RCV002014218] Chr7:150951664..150951669 [GRCh38]
Chr7:150648752..150648757 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.64T>G (p.Phe22Val) single nucleotide variant Long QT syndrome [RCV001973145] Chr7:150977850 [GRCh38]
Chr7:150674938 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.34A>T (p.Asn12Tyr) single nucleotide variant Long QT syndrome [RCV001918570] Chr7:150977880 [GRCh38]
Chr7:150674968 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1726_1727insGTTGGCGTG (p.Gln576delinsArgTrpArgGlu) insertion Long QT syndrome [RCV001882956] Chr7:150951666..150951667 [GRCh38]
Chr7:150648754..150648755 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.50C>T (p.Thr17Ile) single nucleotide variant Long QT syndrome [RCV001974163] Chr7:150977864 [GRCh38]
Chr7:150674952 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3G>A (p.Met1Ile) single nucleotide variant Long QT syndrome [RCV002031801] Chr7:150977911 [GRCh38]
Chr7:150674999 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.3275C>T (p.Ser1092Phe) single nucleotide variant Long QT syndrome [RCV001991295] Chr7:150946932 [GRCh38]
Chr7:150644020 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2897_2898delinsCC (p.Glu966Ala) indel Long QT syndrome [RCV002049164] Chr7:150947673..150947674 [GRCh38]
Chr7:150644761..150644762 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1963A>T (p.Ile655Phe) single nucleotide variant Long QT syndrome [RCV001916049] Chr7:150951103 [GRCh38]
Chr7:150648191 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1147G>A (p.Asp383Asn) single nucleotide variant Long QT syndrome [RCV002030233] Chr7:150952835 [GRCh38]
Chr7:150649923 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3122G>A (p.Arg1041Lys) single nucleotide variant Long QT syndrome [RCV001897509] Chr7:150947358 [GRCh38]
Chr7:150644446 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.640G>A (p.Glu214Lys) single nucleotide variant Long QT syndrome [RCV002049149] Chr7:150958335 [GRCh38]
Chr7:150655423 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.685G>A (p.Glu229Lys) single nucleotide variant Long QT syndrome [RCV001933691] Chr7:150958290 [GRCh38]
Chr7:150655378 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.307+1del deletion Long QT syndrome [RCV001897561] Chr7:150974710 [GRCh38]
Chr7:150671798 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1499T>A (p.Ile500Asn) single nucleotide variant Long QT syndrome [RCV002047493] Chr7:150952483 [GRCh38]
Chr7:150649571 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.29C>A (p.Pro10Gln) single nucleotide variant Long QT syndrome [RCV002051215] Chr7:150977885 [GRCh38]
Chr7:150674973 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1968C>A (p.Phe656Leu) single nucleotide variant Long QT syndrome [RCV001923569] Chr7:150951098 [GRCh38]
Chr7:150648186 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2559G>A (p.Trp853Ter) single nucleotide variant Long QT syndrome [RCV001918206] Chr7:150948889 [GRCh38]
Chr7:150645977 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.754C>T (p.Arg252Trp) single nucleotide variant Long QT syndrome [RCV001937915] Chr7:150958221 [GRCh38]
Chr7:150655309 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.98A>G (p.Asn33Ser) single nucleotide variant Long QT syndrome [RCV003089165]|not provided [RCV002224220] Chr7:150974920 [GRCh38]
Chr7:150672008 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1107T>C (p.Asn369=) single nucleotide variant Cardiovascular phenotype [RCV003161634]|Long QT syndrome [RCV002148580] Chr7:150957312 [GRCh38]
Chr7:150654400 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+14G>A single nucleotide variant Long QT syndrome [RCV002108513] Chr7:150957277 [GRCh38]
Chr7:150654365 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.77-19C>G single nucleotide variant Long QT syndrome [RCV002108520] Chr7:150974960 [GRCh38]
Chr7:150672048 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1582_1603del (p.Arg528fs) deletion Short QT syndrome type 1 [RCV002208753] Chr7:150951790..150951811 [GRCh38]
Chr7:150648878..150648899 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.681C>G (p.Pro227=) single nucleotide variant Long QT syndrome [RCV002090565] Chr7:150958294 [GRCh38]
Chr7:150655382 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.493C>T (p.Leu165=) single nucleotide variant Long QT syndrome [RCV002147090] Chr7:150958482 [GRCh38]
Chr7:150655570 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2593-16C>A single nucleotide variant Long QT syndrome [RCV002207353] Chr7:150948559 [GRCh38]
Chr7:150645647 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2919G>T (p.Leu973=) single nucleotide variant Long QT syndrome [RCV002207975] Chr7:150947652 [GRCh38]
Chr7:150644740 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.77-10del deletion Long QT syndrome [RCV002129448] Chr7:150974951 [GRCh38]
Chr7:150672039 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2942_2947delinsACCCCCTGT (p.Ser981_Thr983delinsAsnProLeuSer) indel not provided [RCV002224560] Chr7:150947624..150947629 [GRCh38]
Chr7:150644712..150644717 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1482C>T (p.Phe494=) single nucleotide variant Long QT syndrome [RCV002104681] Chr7:150952500 [GRCh38]
Chr7:150649588 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2145+17G>A single nucleotide variant Long QT syndrome [RCV002091641] Chr7:150950904 [GRCh38]
Chr7:150647992 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.917-5C>T single nucleotide variant Long QT syndrome [RCV002106497] Chr7:150957507 [GRCh38]
Chr7:150654595 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+13C>T single nucleotide variant Long QT syndrome [RCV002124962] Chr7:150957278 [GRCh38]
Chr7:150654366 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.307+14G>A single nucleotide variant Long QT syndrome [RCV002186925] Chr7:150974697 [GRCh38]
Chr7:150671785 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1123A>G (p.Thr375Ala) single nucleotide variant Cardiovascular phenotype [RCV002434604]|not provided [RCV002223379] Chr7:150957296 [GRCh38]
Chr7:150654384 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.473-20G>A single nucleotide variant Long QT syndrome [RCV002191973] Chr7:150958522 [GRCh38]
Chr7:150655610 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1167G>A (p.Lys389=) single nucleotide variant Long QT syndrome [RCV002106747] Chr7:150952815 [GRCh38]
Chr7:150649903 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2145+15_2145+16delinsTT indel Long QT syndrome [RCV002206897] Chr7:150950905..150950906 [GRCh38]
Chr7:150647993..150647994 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.849G>C (p.Ser283=) single nucleotide variant Cardiovascular phenotype [RCV002443118]|Long QT syndrome [RCV002189897] Chr7:150958126 [GRCh38]
Chr7:150655214 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3147C>T (p.Leu1049=) single nucleotide variant Long QT syndrome [RCV002071794] Chr7:150947333 [GRCh38]
Chr7:150644421 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2965+8G>A single nucleotide variant Long QT syndrome [RCV002110264] Chr7:150947598 [GRCh38]
Chr7:150644686 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3246C>A (p.Thr1082=) single nucleotide variant Long QT syndrome [RCV002170135] Chr7:150946961 [GRCh38]
Chr7:150644049 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.189C>T (p.Pro63=) single nucleotide variant Long QT syndrome [RCV002170228] Chr7:150974829 [GRCh38]
Chr7:150671917 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs) duplication Long QT syndrome 2 [RCV002074455] Chr7:150947814..150947815 [GRCh38]
Chr7:150644902..150644903 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala) single nucleotide variant Long QT syndrome 2 [RCV002086730] Chr7:150952585 [GRCh38]
Chr7:150649673 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.911G>T (p.Ser304Ile) single nucleotide variant not provided [RCV002224148] Chr7:150958064 [GRCh38]
Chr7:150655152 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.80del (p.Arg27fs) deletion Long QT syndrome 2 [RCV002244292] Chr7:150974938 [GRCh38]
Chr7:150672026 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2965+8G>T single nucleotide variant Long QT syndrome [RCV002210177] Chr7:150947598 [GRCh38]
Chr7:150644686 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2013C>T (p.Ala671=) single nucleotide variant Cardiac arrhythmia [RCV003591918]|Long QT syndrome [RCV002146193] Chr7:150951053 [GRCh38]
Chr7:150648141 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.3129T>C (p.Asp1043=) single nucleotide variant Long QT syndrome [RCV002126431] Chr7:150947351 [GRCh38]
Chr7:150644439 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.917-17G>A single nucleotide variant Long QT syndrome [RCV002146205] Chr7:150957519 [GRCh38]
Chr7:150654607 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1629A>C (p.Ser543=) single nucleotide variant Long QT syndrome [RCV002104767] Chr7:150951764 [GRCh38]
Chr7:150648852 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.600G>A (p.Leu200=) single nucleotide variant Long QT syndrome [RCV002144705] Chr7:150958375 [GRCh38]
Chr7:150655463 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1608G>C (p.Ala536=) single nucleotide variant Long QT syndrome [RCV002075544] Chr7:150951785 [GRCh38]
Chr7:150648873 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.308-377T>G single nucleotide variant Long QT syndrome [RCV002089959] Chr7:150960113 [GRCh38]
Chr7:150657201 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.252G>A (p.Gln84=) single nucleotide variant Cardiovascular phenotype [RCV002427692]|Long QT syndrome [RCV002124341] Chr7:150974766 [GRCh38]
Chr7:150671854 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.473-15T>G single nucleotide variant Long QT syndrome [RCV002185894] Chr7:150958517 [GRCh38]
Chr7:150655605 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.579C>T (p.Ala193=) single nucleotide variant Cardiovascular phenotype [RCV002352882]|Long QT syndrome [RCV002104456] Chr7:150958396 [GRCh38]
Chr7:150655484 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2976A>G (p.Ser992=) single nucleotide variant Long QT syndrome [RCV002133840] Chr7:150947504 [GRCh38]
Chr7:150644592 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3471G>C (p.Pro1157=) single nucleotide variant Long QT syndrome [RCV002131952] Chr7:150945374 [GRCh38]
Chr7:150642462 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3282G>C (p.Leu1094=) single nucleotide variant Long QT syndrome [RCV002114714] Chr7:150946925 [GRCh38]
Chr7:150644013 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2399-15C>G single nucleotide variant Long QT syndrome [RCV002153695] Chr7:150949064 [GRCh38]
Chr7:150646152 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1946-4C>G single nucleotide variant Cardiac arrhythmia [RCV003591914]|Long QT syndrome [RCV002112883] Chr7:150951124 [GRCh38]
Chr7:150648212 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2802C>G (p.Gly934=) single nucleotide variant Long QT syndrome [RCV002209797] Chr7:150947769 [GRCh38]
Chr7:150644857 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1672G>A (p.Ala558Thr) single nucleotide variant not provided [RCV002223502] Chr7:150951721 [GRCh38]
Chr7:150648809 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.60C>A (p.Arg20=) single nucleotide variant Long QT syndrome [RCV002193568] Chr7:150977854 [GRCh38]
Chr7:150674942 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2850C>T (p.Ser950=) single nucleotide variant Long QT syndrome [RCV002076921] Chr7:150947721 [GRCh38]
Chr7:150644809 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1245G>C (p.Leu415=) single nucleotide variant Long QT syndrome [RCV002095695] Chr7:150952737 [GRCh38]
Chr7:150649825 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2146-14C>G single nucleotide variant Long QT syndrome [RCV002152652] Chr7:150950434 [GRCh38]
Chr7:150647522 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2399-11A>G single nucleotide variant Long QT syndrome [RCV002117323] Chr7:150949060 [GRCh38]
Chr7:150646148 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2146-18C>T single nucleotide variant Long QT syndrome [RCV002134142] Chr7:150950438 [GRCh38]
Chr7:150647526 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.77-6C>T single nucleotide variant Long QT syndrome [RCV002153254] Chr7:150974947 [GRCh38]
Chr7:150672035 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.813C>T (p.Arg271=) single nucleotide variant Long QT syndrome [RCV002216290] Chr7:150958162 [GRCh38]
Chr7:150655250 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2607G>T (p.Pro869=) single nucleotide variant Cardiovascular phenotype [RCV002427531]|Long QT syndrome [RCV002087408] Chr7:150948529 [GRCh38]
Chr7:150645617 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2965+13A>G single nucleotide variant Long QT syndrome [RCV002197338] Chr7:150947593 [GRCh38]
Chr7:150644681 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.711C>G (p.Pro237=) single nucleotide variant Long QT syndrome [RCV002194248] Chr7:150958264 [GRCh38]
Chr7:150655352 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.916+14_916+15delinsTA indel Long QT syndrome [RCV002215183] Chr7:150958044..150958045 [GRCh38]
Chr7:150655132..150655133 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2169C>T (p.Cys723=) single nucleotide variant Cardiovascular phenotype [RCV002427728]|not provided [RCV002214456] Chr7:150950397 [GRCh38]
Chr7:150647485 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1865T>A (p.Leu622His) single nucleotide variant not provided [RCV002214457] Chr7:150951528 [GRCh38]
Chr7:150648616 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.308-2278C>T single nucleotide variant not provided [RCV002214458] Chr7:150962014 [GRCh38]
Chr7:150659102 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000238.4(KCNH2):c.1632G>A (p.Glu544=) single nucleotide variant Long QT syndrome [RCV002079542] Chr7:150951761 [GRCh38]
Chr7:150648849 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3255G>A (p.Gly1085=) single nucleotide variant Long QT syndrome [RCV002077604] Chr7:150946952 [GRCh38]
Chr7:150644040 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+18G>A single nucleotide variant Long QT syndrome [RCV002112594] Chr7:150957273 [GRCh38]
Chr7:150654361 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.917-8C>G single nucleotide variant Long QT syndrome [RCV002078199] Chr7:150957510 [GRCh38]
Chr7:150654598 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.308-377T>A single nucleotide variant Long QT syndrome [RCV002086967] Chr7:150960113 [GRCh38]
Chr7:150657201 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3099G>C (p.Arg1033=) single nucleotide variant Long QT syndrome [RCV002080235] Chr7:150947381 [GRCh38]
Chr7:150644469 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.240G>T (p.Ala80=) single nucleotide variant Long QT syndrome [RCV002077123] Chr7:150974778 [GRCh38]
Chr7:150671866 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2310G>A (p.Val770=) single nucleotide variant Long QT syndrome [RCV002152458] Chr7:150950256 [GRCh38]
Chr7:150647344 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.855C>G (p.Ala285=) single nucleotide variant Long QT syndrome [RCV002170784] Chr7:150958120 [GRCh38]
Chr7:150655208 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2965+19_2965+20insA insertion Long QT syndrome [RCV002206940] Chr7:150947586..150947587 [GRCh38]
Chr7:150644674..150644675 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3152+11G>A single nucleotide variant Long QT syndrome [RCV002113652] Chr7:150947317 [GRCh38]
Chr7:150644405 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3026A>G (p.Tyr1009Cys) single nucleotide variant not provided [RCV002224288] Chr7:150947454 [GRCh38]
Chr7:150644542 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2631A>G (p.Leu877=) single nucleotide variant Cardiovascular phenotype [RCV002427555]|Long QT syndrome [RCV002170909] Chr7:150948505 [GRCh38]
Chr7:150645593 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+10C>G single nucleotide variant Long QT syndrome [RCV002134005] Chr7:150957281 [GRCh38]
Chr7:150654369 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2097G>A (p.Glu699=) single nucleotide variant Long QT syndrome [RCV002195211] Chr7:150950969 [GRCh38]
Chr7:150648057 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.738C>A (p.Gly246=) single nucleotide variant Long QT syndrome [RCV002113315] Chr7:150958237 [GRCh38]
Chr7:150655325 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1826T>C single nucleotide variant Long QT syndrome [RCV002172747] Chr7:150955465 [GRCh38]
Chr7:150652553 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1674G>C (p.Ala558=) single nucleotide variant Long QT syndrome [RCV002213689] Chr7:150951719 [GRCh38]
Chr7:150648807 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.93C>A (p.Ile31=) single nucleotide variant Long QT syndrome [RCV002197722] Chr7:150974925 [GRCh38]
Chr7:150672013 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3045C>T (p.Cys1015=) single nucleotide variant Cardiac arrhythmia [RCV003591915]|Long QT syndrome [RCV002101712] Chr7:150947435 [GRCh38]
Chr7:150644523 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2979A>C (p.Gly993=) single nucleotide variant Long QT syndrome [RCV002139519] Chr7:150947501 [GRCh38]
Chr7:150644589 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2916C>T (p.Pro972=) single nucleotide variant Cardiovascular phenotype [RCV002441258]|Long QT syndrome [RCV002179596] Chr7:150947655 [GRCh38]
Chr7:150644743 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1129-17G>A single nucleotide variant Long QT syndrome [RCV002102549] Chr7:150952870 [GRCh38]
Chr7:150649958 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.765C>T (p.Ser255=) single nucleotide variant Long QT syndrome [RCV002181944] Chr7:150958210 [GRCh38]
Chr7:150655298 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3057C>T (p.Thr1019=) single nucleotide variant Long QT syndrome [RCV002176915] Chr7:150947423 [GRCh38]
Chr7:150644511 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1946-14G>A single nucleotide variant Long QT syndrome [RCV002119357] Chr7:150951134 [GRCh38]
Chr7:150648222 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3331-20A>G single nucleotide variant Long QT syndrome [RCV002177203] Chr7:150945534 [GRCh38]
Chr7:150642622 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1946-17C>T single nucleotide variant Long QT syndrome [RCV002163362] Chr7:150951137 [GRCh38]
Chr7:150648225 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2463T>C (p.Asp821=) single nucleotide variant Long QT syndrome [RCV002098631] Chr7:150948985 [GRCh38]
Chr7:150646073 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2610C>G (p.Gly870=) single nucleotide variant Long QT syndrome [RCV002098746] Chr7:150948526 [GRCh38]
Chr7:150645614 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.858C>T (p.Asp286=) single nucleotide variant Cardiovascular phenotype [RCV003355823]|Long QT syndrome [RCV002163994] Chr7:150958117 [GRCh38]
Chr7:150655205 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2692+10G>A single nucleotide variant Long QT syndrome [RCV002164362] Chr7:150948434 [GRCh38]
Chr7:150645522 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.810G>A (p.Thr270=) single nucleotide variant Cardiovascular phenotype [RCV003289467]|Long QT syndrome [RCV002164388] Chr7:150958165 [GRCh38]
Chr7:150655253 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1845C>G (p.Leu615=) single nucleotide variant Long QT syndrome [RCV002155282] Chr7:150951548 [GRCh38]
Chr7:150648636 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2965+18C>T single nucleotide variant Long QT syndrome [RCV002155659] Chr7:150947588 [GRCh38]
Chr7:150644676 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.308-10C>T single nucleotide variant Long QT syndrome [RCV002162878] Chr7:150959746 [GRCh38]
Chr7:150656834 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1946-17_1946-2dup duplication Long QT syndrome [RCV002175447] Chr7:150951121..150951122 [GRCh38]
Chr7:150648209..150648210 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.51C>A (p.Thr17=) single nucleotide variant Long QT syndrome [RCV002083728] Chr7:150977863 [GRCh38]
Chr7:150674951 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1946-16G>A single nucleotide variant Long QT syndrome [RCV002103873] Chr7:150951136 [GRCh38]
Chr7:150648224 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3186T>C (p.Thr1062=) single nucleotide variant Long QT syndrome [RCV002143190] Chr7:150947021 [GRCh38]
Chr7:150644109 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.916+16G>C single nucleotide variant Long QT syndrome [RCV002084154] Chr7:150958043 [GRCh38]
Chr7:150655131 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3432C>T (p.Ala1144=) single nucleotide variant Long QT syndrome [RCV002157474] Chr7:150945413 [GRCh38]
Chr7:150642501 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3152+10T>C single nucleotide variant Long QT syndrome [RCV002139126] Chr7:150947318 [GRCh38]
Chr7:150644406 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3153-16C>G single nucleotide variant Long QT syndrome [RCV002103561] Chr7:150947070 [GRCh38]
Chr7:150644158 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2146-14C>A single nucleotide variant Long QT syndrome [RCV002143265] Chr7:150950434 [GRCh38]
Chr7:150647522 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1092G>A (p.Lys364=) single nucleotide variant Long QT syndrome [RCV002123378] Chr7:150957327 [GRCh38]
Chr7:150654415 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2399-8G>A single nucleotide variant Long QT syndrome [RCV002159578] Chr7:150949057 [GRCh38]
Chr7:150646145 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2925G>A (p.Glu975=) single nucleotide variant Long QT syndrome [RCV002175843] Chr7:150947646 [GRCh38]
Chr7:150644734 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1191C>A (p.Arg397=) single nucleotide variant Long QT syndrome [RCV002219401] Chr7:150952791 [GRCh38]
Chr7:150649879 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1203G>A (p.Leu401=) single nucleotide variant Long QT syndrome [RCV002183711] Chr7:150952779 [GRCh38]
Chr7:150649867 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1596G>C (p.Leu532=) single nucleotide variant Long QT syndrome [RCV002099043] Chr7:150951797 [GRCh38]
Chr7:150648885 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2693-4A>C single nucleotide variant Long QT syndrome [RCV002198980] Chr7:150947882 [GRCh38]
Chr7:150644970 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.747A>G (p.Pro249=) single nucleotide variant Cardiovascular phenotype [RCV002391236]|Long QT syndrome [RCV002101130] Chr7:150958228 [GRCh38]
Chr7:150655316 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3152+20G>T single nucleotide variant Long QT syndrome [RCV002138474] Chr7:150947308 [GRCh38]
Chr7:150644396 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1569G>A (p.Leu523=) single nucleotide variant Long QT syndrome [RCV002160568] Chr7:150951824 [GRCh38]
Chr7:150648912 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2253T>A (p.Leu751=) single nucleotide variant Long QT syndrome [RCV002184782] Chr7:150950313 [GRCh38]
Chr7:150647401 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.676G>C (p.Gly226Arg) single nucleotide variant Long QT syndrome [RCV003112175] Chr7:150958299 [GRCh38]
Chr7:150655387 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150307047)_(152613597_?)del deletion not provided [RCV003113787] Chr7:150307047..152613597 [GRCh37]
Chr7:7q36.1-36.2		 pathogenic
NC_000007.13:g.(?_150324807)_(152373164_?)del deletion not provided [RCV003113606] Chr7:150324807..152373164 [GRCh37]
Chr7:7q36.1		 pathogenic
NC_000007.13:g.(?_150324807)_(152373164_?)dup duplication not provided [RCV003113607] Chr7:150324807..152373164 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2430C>T (p.Asn810=) single nucleotide variant Long QT syndrome [RCV003121497] Chr7:150949018 [GRCh38]
Chr7:150646106 [GRCh37]
Chr7:7q36.1		 likely benign
NC_000007.13:g.(?_150642453)_(151573705_?)del deletion Lethal congenital glycogen storage disease of heart [RCV003119718] Chr7:150642453..151573705 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150642453)_(150675001_?)del deletion Long QT syndrome [RCV003122216] Chr7:150642453..150675001 [GRCh37]
Chr7:7q36.1		 pathogenic
NC_000007.13:g.(?_150654359)_(150657201_?)del deletion Long QT syndrome [RCV003122217] Chr7:150654359..150657201 [GRCh37]
Chr7:7q36.1		 pathogenic
NC_000007.13:g.(?_150642453)_(150675001_?)dup duplication Long QT syndrome [RCV003122218] Chr7:150642453..150675001 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
NM_000238.4(KCNH2):c.2468G>T (p.Arg823Leu) single nucleotide variant Long QT syndrome [RCV003105072] Chr7:150948980 [GRCh38]
Chr7:150646068 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.991del (p.Ser331fs) deletion Long QT syndrome 2 [RCV003148398]|Long QT syndrome [RCV003647951] Chr7:150957428 [GRCh38]
Chr7:150654516 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2738C>A (p.Ala913Glu) single nucleotide variant not provided [RCV003131316] Chr7:150947833 [GRCh38]
Chr7:150644921 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.400G>T (p.Glu134Ter) single nucleotide variant Long QT syndrome 2 [RCV002244291] Chr7:150959644 [GRCh38]
Chr7:150656732 [GRCh37]
Chr7:7q36.1		 likely pathogenic
GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3 copy number gain not provided [RCV002279740] Chr7:146927174..159128556 [GRCh37]
Chr7:7q35-36.3		 pathogenic
NM_000238.4(KCNH2):c.339G>A (p.Val113=) single nucleotide variant Cardiovascular phenotype [RCV002451999] Chr7:150959705 [GRCh38]
Chr7:150656793 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3417G>C (p.Pro1139=) single nucleotide variant Cardiovascular phenotype [RCV002452203] Chr7:150945428 [GRCh38]
Chr7:150642516 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.916+1G>A single nucleotide variant Cardiovascular phenotype [RCV003355850]|not provided [RCV002291860] Chr7:150958058 [GRCh38]
Chr7:150655146 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.663C>A (p.His221Gln) single nucleotide variant Cardiovascular phenotype [RCV002366775]|Long QT syndrome [RCV003533191] Chr7:150958312 [GRCh38]
Chr7:150655400 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1819del (p.Ile607fs) deletion Congenital long QT syndrome [RCV002272823] Chr7:150951574 [GRCh38]
Chr7:150648662 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_000238.4(KCNH2):c.2200_2201insAGCC (p.Arg734fs) insertion not provided [RCV002276181] Chr7:150950365..150950366 [GRCh38]
Chr7:150647453..150647454 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2903dup (p.Gly970fs) duplication not provided [RCV002293179] Chr7:150947667..150947668 [GRCh38]
Chr7:150644755..150644756 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.865_869dup (p.Met291fs) duplication not provided [RCV002293180] Chr7:150958105..150958106 [GRCh38]
Chr7:150655193..150655194 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2524C>G (p.Leu842Val) single nucleotide variant Long QT syndrome [RCV003096098]|not provided [RCV002269636] Chr7:150948924 [GRCh38]
Chr7:150646012 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1415G>A (p.Arg472His) single nucleotide variant Long QT syndrome 2 [RCV002291172]|Long QT syndrome [RCV003097795] Chr7:150952567 [GRCh38]
Chr7:150649655 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_000238.4(KCNH2):c.1558-27G>A single nucleotide variant not provided [RCV002261833] Chr7:150951862 [GRCh38]
Chr7:150648950 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1 copy number loss not provided [RCV002279756] Chr7:149062717..159124131 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs) indel Cardiovascular phenotype [RCV002421596]|Long QT syndrome [RCV003097385] Chr7:150951106..150951111 [GRCh38]
Chr7:150648194..150648199 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2900_2903dup (p.Gly969fs) duplication Cardiovascular phenotype [RCV002438070] Chr7:150947667..150947668 [GRCh38]
Chr7:150644755..150644756 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2668_2670delinsCGCAAG (p.Ser890delinsArgLys) indel Cardiovascular phenotype [RCV002427757]|not provided [RCV002290913] Chr7:150948466..150948468 [GRCh38]
Chr7:150645554..150645556 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2690delinsCGGACAC (p.Lys897delinsThrAspThr) indel Cardiovascular phenotype [RCV002453189] Chr7:150948446 [GRCh38]
Chr7:150645534 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2614C>A (p.Pro872Thr) single nucleotide variant Cardiovascular phenotype [RCV002437200] Chr7:150948522 [GRCh38]
Chr7:150645610 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1 copy number loss not provided [RCV002472413] Chr7:149332630..151498689 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2894del (p.Gly965fs) deletion Cardiovascular phenotype [RCV002437962]|Long QT syndrome [RCV003102844] Chr7:150947677 [GRCh38]
Chr7:150644765 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2734dup (p.Arg912fs) duplication Cardiovascular phenotype [RCV002437505] Chr7:150947836..150947837 [GRCh38]
Chr7:150644924..150644925 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2736_2751del (p.Ala913fs) deletion Cardiovascular phenotype [RCV002437519] Chr7:150947820..150947835 [GRCh38]
Chr7:150644908..150644923 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2647del (p.Arg883fs) deletion Cardiovascular phenotype [RCV002453022] Chr7:150948489 [GRCh38]
Chr7:150645577 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.629T>A (p.Leu210Gln) single nucleotide variant Cardiovascular phenotype [RCV002368768]|Long QT syndrome [RCV003647901] Chr7:150958346 [GRCh38]
Chr7:150655434 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3009C>T (p.Asp1003=) single nucleotide variant Cardiovascular phenotype [RCV002435744] Chr7:150947471 [GRCh38]
Chr7:150644559 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.567C>A (p.Gly189=) single nucleotide variant Cardiovascular phenotype [RCV002347404] Chr7:150958408 [GRCh38]
Chr7:150655496 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3099dup (p.Pro1034fs) duplication Long QT syndrome 2 [RCV002471363]|Long QT syndrome [RCV003775509] Chr7:150947380..150947381 [GRCh38]
Chr7:150644468..150644469 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2110G>A (p.Ala704Thr) single nucleotide variant Cardiovascular phenotype [RCV002417488] Chr7:150950956 [GRCh38]
Chr7:150648044 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1900A>C (p.Thr634Pro) single nucleotide variant Long QT syndrome 2 [RCV002472021] Chr7:150951493 [GRCh38]
Chr7:150648581 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.561C>G (p.Gly187=) single nucleotide variant Cardiovascular phenotype [RCV002344997] Chr7:150958414 [GRCh38]
Chr7:150655502 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.250C>T (p.Gln84Ter) single nucleotide variant Cardiovascular phenotype [RCV002432922] Chr7:150974768 [GRCh38]
Chr7:150671856 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2514G>T (p.Leu838=) single nucleotide variant Cardiovascular phenotype [RCV002432973] Chr7:150948934 [GRCh38]
Chr7:150646022 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3207G>A (p.Arg1069=) single nucleotide variant Cardiovascular phenotype [RCV002443376]|Long QT syndrome [RCV003099292] Chr7:150947000 [GRCh38]
Chr7:150644088 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3368G>C (p.Gly1123Ala) single nucleotide variant not provided [RCV003233207] Chr7:150945477 [GRCh38]
Chr7:150642565 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2399G>C (p.Gly800Ala) single nucleotide variant Long QT syndrome [RCV002304375] Chr7:150949049 [GRCh38]
Chr7:150646137 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3049G>A (p.Ala1017Thr) single nucleotide variant Cardiovascular phenotype [RCV002444070]|Long QT syndrome [RCV003103001] Chr7:150947431 [GRCh38]
Chr7:150644519 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+5G>A single nucleotide variant Cardiovascular phenotype [RCV002444344] Chr7:150957286 [GRCh38]
Chr7:150654374 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2782G>C (p.Gly928Arg) single nucleotide variant Cardiac arrhythmia [RCV003591963]|Cardiovascular phenotype [RCV002441326]|Long QT syndrome [RCV003647936] Chr7:150947789 [GRCh38]
Chr7:150644877 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.571C>G (p.Pro191Ala) single nucleotide variant Cardiovascular phenotype [RCV002347673] Chr7:150958404 [GRCh38]
Chr7:150655492 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2804C>T (p.Pro935Leu) single nucleotide variant Cardiovascular phenotype [RCV002441621] Chr7:150947767 [GRCh38]
Chr7:150644855 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1209C>T (p.Tyr403=) single nucleotide variant Cardiovascular phenotype [RCV002359631] Chr7:150952773 [GRCh38]
Chr7:150649861 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1994G>A (p.Arg665Gln) single nucleotide variant Cardiovascular phenotype [RCV002416968] Chr7:150951072 [GRCh38]
Chr7:150648160 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.57C>T (p.Ile19=) single nucleotide variant Cardiovascular phenotype [RCV002359856] Chr7:150977857 [GRCh38]
Chr7:150674945 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.129C>T (p.Tyr43=) single nucleotide variant Cardiovascular phenotype [RCV002380757] Chr7:150974889 [GRCh38]
Chr7:150671977 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2003C>T (p.Ser668Leu) single nucleotide variant Cardiovascular phenotype [RCV002417218]|Long QT syndrome [RCV003101001] Chr7:150951063 [GRCh38]
Chr7:150648151 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2172G>A (p.Leu724=) single nucleotide variant Cardiovascular phenotype [RCV002432760] Chr7:150950394 [GRCh38]
Chr7:150647482 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2326C>G (p.Leu776Val) single nucleotide variant Long QT syndrome [RCV002300115]|not provided [RCV003319517] Chr7:150950240 [GRCh38]
Chr7:150647328 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.723C>T (p.Pro241=) single nucleotide variant Cardiovascular phenotype [RCV002371048] Chr7:150958252 [GRCh38]
Chr7:150655340 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.892_904del (p.Pro298fs) deletion Cardiovascular phenotype [RCV002376138] Chr7:150958071..150958083 [GRCh38]
Chr7:150655159..150655171 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1781G>T (p.Gly594Val) single nucleotide variant Cardiovascular phenotype [RCV002404104] Chr7:150951612 [GRCh38]
Chr7:150648700 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.859G>A (p.Asp287Asn) single nucleotide variant Cardiovascular phenotype [RCV002447960] Chr7:150958116 [GRCh38]
Chr7:150655204 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.870C>A (p.Ala290=) single nucleotide variant Cardiovascular phenotype [RCV002449725]|Long QT syndrome [RCV003533206] Chr7:150958105 [GRCh38]
Chr7:150655193 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3136C>T (p.Gln1046Ter) single nucleotide variant Cardiovascular phenotype [RCV002320644] Chr7:150947344 [GRCh38]
Chr7:150644432 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs) deletion Cardiovascular phenotype [RCV002431345]|Long QT syndrome [RCV003533266] Chr7:150947827..150947842 [GRCh38]
Chr7:150644915..150644930 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.167G>C (p.Arg56Pro) single nucleotide variant Cardiovascular phenotype [RCV002406011] Chr7:150974851 [GRCh38]
Chr7:150671939 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2775G>A (p.Gly925=) single nucleotide variant Cardiovascular phenotype [RCV002407554] Chr7:150947796 [GRCh38]
Chr7:150644884 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.229_230delinsT (p.Arg77fs) indel Cardiovascular phenotype [RCV002446219] Chr7:150974788..150974789 [GRCh38]
Chr7:150671876..150671877 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2376dup (p.Asp793fs) duplication Cardiovascular phenotype [RCV002457824] Chr7:150950189..150950190 [GRCh38]
Chr7:150647277..150647278 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1385dup (p.Met462fs) duplication Cardiovascular phenotype [RCV002396513] Chr7:150952596..150952597 [GRCh38]
Chr7:150649684..150649685 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.832_916+11del deletion Cardiovascular phenotype [RCV002430434] Chr7:150958048..150958143 [GRCh38]
Chr7:150655136..150655231 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.730G>A (p.Ala244Thr) single nucleotide variant Cardiovascular phenotype [RCV002380049]|Long QT syndrome [RCV003533199] Chr7:150958245 [GRCh38]
Chr7:150655333 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1742del (p.Ser581fs) deletion Cardiovascular phenotype [RCV002407491] Chr7:150951651 [GRCh38]
Chr7:150648739 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2799T>C (p.Ser933=) single nucleotide variant Cardiovascular phenotype [RCV002441489] Chr7:150947772 [GRCh38]
Chr7:150644860 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.328G>A (p.Val110Met) single nucleotide variant Long QT syndrome [RCV002295105] Chr7:150959716 [GRCh38]
Chr7:150656804 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3114G>A (p.Val1038=) single nucleotide variant Cardiovascular phenotype [RCV002326127] Chr7:150947366 [GRCh38]
Chr7:150644454 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2142C>G (p.Asn714Lys) single nucleotide variant Cardiovascular phenotype [RCV002430565] Chr7:150950924 [GRCh38]
Chr7:150648012 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2146-1G>C single nucleotide variant Cardiovascular phenotype [RCV002430615]|Long QT syndrome [RCV003101082] Chr7:150950421 [GRCh38]
Chr7:150647509 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.3311C>T (p.Thr1104Ile) single nucleotide variant Cardiovascular phenotype [RCV002326321] Chr7:150946896 [GRCh38]
Chr7:150643984 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3132C>T (p.Ala1044=) single nucleotide variant Cardiovascular phenotype [RCV002320616]|Long QT syndrome [RCV003775052] Chr7:150947348 [GRCh38]
Chr7:150644436 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3093T>G (p.Gly1031=) single nucleotide variant Cardiovascular phenotype [RCV002325828]|not provided [RCV003883805] Chr7:150947387 [GRCh38]
Chr7:150644475 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2669C>G (p.Ser890Cys) single nucleotide variant Cardiovascular phenotype [RCV002428783]|Long QT syndrome [RCV003102092] Chr7:150948467 [GRCh38]
Chr7:150645555 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.901C>A (p.Arg301Ser) single nucleotide variant Cardiovascular phenotype [RCV002376415]|Long QT syndrome [RCV003100080] Chr7:150958074 [GRCh38]
Chr7:150655162 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2672T>G (p.Phe891Cys) single nucleotide variant Cardiac arrhythmia [RCV003591961]|Cardiovascular phenotype [RCV002428817] Chr7:150948464 [GRCh38]
Chr7:150645552 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.314G>A (p.Cys105Tyr) single nucleotide variant Cardiovascular phenotype [RCV002320807] Chr7:150959730 [GRCh38]
Chr7:150656818 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3344T>C (p.Met1115Thr) single nucleotide variant Cardiovascular phenotype [RCV002326623] Chr7:150945501 [GRCh38]
Chr7:150642589 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2435A>G (p.Tyr812Cys) single nucleotide variant Cardiovascular phenotype [RCV002459920] Chr7:150949013 [GRCh38]
Chr7:150646101 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.104G>C (p.Arg35Pro) single nucleotide variant Cardiovascular phenotype [RCV002401158] Chr7:150974914 [GRCh38]
Chr7:150672002 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.700C>T (p.Leu234=) single nucleotide variant Cardiovascular phenotype [RCV002364819]|Long QT syndrome [RCV003776335] Chr7:150958275 [GRCh38]
Chr7:150655363 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2762dup (p.Arg922fs) duplication Cardiovascular phenotype [RCV002439516]|Long QT syndrome [RCV003647935] Chr7:150947808..150947809 [GRCh38]
Chr7:150644896..150644897 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.87C>G (p.Phe29Leu) single nucleotide variant Cardiovascular phenotype [RCV002373704] Chr7:150974931 [GRCh38]
Chr7:150672019 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.917-1G>T single nucleotide variant Cardiovascular phenotype [RCV002378873] Chr7:150957503 [GRCh38]
Chr7:150654591 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.1660_1661del (p.Met554fs) deletion Cardiovascular phenotype [RCV002403820] Chr7:150951732..150951733 [GRCh38]
Chr7:150648820..150648821 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2410A>G (p.Ile804Val) single nucleotide variant Cardiovascular phenotype [RCV002450330] Chr7:150949038 [GRCh38]
Chr7:150646126 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.495G>A (p.Leu165=) single nucleotide variant Cardiovascular phenotype [RCV002342790] Chr7:150958480 [GRCh38]
Chr7:150655568 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2459G>A (p.Gly820Glu) single nucleotide variant Cardiovascular phenotype [RCV002430723] Chr7:150948989 [GRCh38]
Chr7:150646077 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.534G>A (p.Ser178=) single nucleotide variant Cardiovascular phenotype [RCV002346958] Chr7:150958441 [GRCh38]
Chr7:150655529 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.534G>T (p.Ser178=) single nucleotide variant Cardiovascular phenotype [RCV002346966] Chr7:150958441 [GRCh38]
Chr7:150655529 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+1G>C single nucleotide variant Cardiovascular phenotype [RCV002444335] Chr7:150957290 [GRCh38]
Chr7:150654378 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.42C>T (p.Phe14=) single nucleotide variant Cardiovascular phenotype [RCV002331871]|Long QT syndrome [RCV003647883]|not provided [RCV002512192] Chr7:150977872 [GRCh38]
Chr7:150674960 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3460G>C (p.Gly1154Arg) single nucleotide variant Cardiovascular phenotype [RCV002457250] Chr7:150945385 [GRCh38]
Chr7:150642473 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2488C>G (p.Leu830Val) single nucleotide variant Cardiovascular phenotype [RCV002430882]|Long QT syndrome [RCV003533260] Chr7:150948960 [GRCh38]
Chr7:150646048 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2398+5G>A single nucleotide variant Long QT syndrome 2 [RCV002302843] Chr7:150950163 [GRCh38]
Chr7:150647251 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.687G>A (p.Glu229=) single nucleotide variant Cardiovascular phenotype [RCV002362226] Chr7:150958288 [GRCh38]
Chr7:150655376 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3478T>C (p.Ter1160Gln) single nucleotide variant Cardiovascular phenotype [RCV002457342] Chr7:150945367 [GRCh38]
Chr7:150642455 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3162C>T (p.Thr1054=) single nucleotide variant Cardiovascular phenotype [RCV002322529]|Long QT syndrome [RCV003099248] Chr7:150947045 [GRCh38]
Chr7:150644133 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.786C>T (p.Gly262=) single nucleotide variant Cardiovascular phenotype [RCV002412267]|Long QT syndrome [RCV003647907] Chr7:150958189 [GRCh38]
Chr7:150655277 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.534G>C (p.Ser178=) single nucleotide variant Cardiovascular phenotype [RCV002346960] Chr7:150958441 [GRCh38]
Chr7:150655529 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3093_3094del (p.Arg1032fs) deletion Cardiovascular phenotype [RCV002325818] Chr7:150947386..150947387 [GRCh38]
Chr7:150644474..150644475 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.893C>T (p.Pro298Leu) single nucleotide variant Cardiovascular phenotype [RCV002376177]|Long QT syndrome [RCV003647913] Chr7:150958082 [GRCh38]
Chr7:150655170 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3163C>G (p.Arg1055Gly) single nucleotide variant Cardiovascular phenotype [RCV002322537]|Long QT syndrome [RCV003099250] Chr7:150947044 [GRCh38]
Chr7:150644132 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.521C>T (p.Thr174Met) single nucleotide variant Cardiovascular phenotype [RCV002344291]|Long QT syndrome [RCV003647892] Chr7:150958454 [GRCh38]
Chr7:150655542 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.522G>A (p.Thr174=) single nucleotide variant Cardiovascular phenotype [RCV002344311]|Long QT syndrome [RCV003096663] Chr7:150958453 [GRCh38]
Chr7:150655541 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3105_3112delinsAC (p.Gly1036_Val1038delinsLeu) indel Cardiovascular phenotype [RCV002326016] Chr7:150947368..150947375 [GRCh38]
Chr7:150644456..150644463 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2351G>C (p.Arg784Pro) single nucleotide variant Cardiovascular phenotype [RCV002448421]|Long QT syndrome [RCV003101752] Chr7:150950215 [GRCh38]
Chr7:150647303 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2351G>A (p.Arg784Gln) single nucleotide variant Cardiovascular phenotype [RCV002448419]|Long QT syndrome [RCV003533255]|not provided [RCV003324857] Chr7:150950215 [GRCh38]
Chr7:150647303 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2356T>C (p.Ser786Pro) single nucleotide variant Cardiovascular phenotype [RCV002448479] Chr7:150950210 [GRCh38]
Chr7:150647298 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.464_467del (p.Leu155fs) microsatellite Cardiovascular phenotype [RCV002342606] Chr7:150959577..150959580 [GRCh38]
Chr7:150656665..150656668 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.267C>T (p.Ala89=) single nucleotide variant Cardiovascular phenotype [RCV002428889]|Long QT syndrome [RCV003102104] Chr7:150974751 [GRCh38]
Chr7:150671839 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.326T>A (p.Leu109Gln) single nucleotide variant Cardiovascular phenotype [RCV002445699] Chr7:150959718 [GRCh38]
Chr7:150656806 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.735dup (p.Gly246fs) duplication Cardiovascular phenotype [RCV002380296] Chr7:150958239..150958240 [GRCh38]
Chr7:150655327..150655328 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1831T>A (p.Tyr611Asn) single nucleotide variant Cardiovascular phenotype [RCV002412657] Chr7:150951562 [GRCh38]
Chr7:150648650 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.557dup (p.Gly187fs) duplication Cardiovascular phenotype [RCV002344740] Chr7:150958417..150958418 [GRCh38]
Chr7:150655505..150655506 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.558C>G (p.Gly186=) single nucleotide variant Cardiovascular phenotype [RCV002344798] Chr7:150958417 [GRCh38]
Chr7:150655505 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1946-5C>T single nucleotide variant Cardiovascular phenotype [RCV002413252]|Long QT syndrome [RCV003647926] Chr7:150951125 [GRCh38]
Chr7:150648213 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.186A>G (p.Arg62=) single nucleotide variant Cardiovascular phenotype [RCV002415056] Chr7:150974832 [GRCh38]
Chr7:150671920 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2567dup (p.Glu857fs) duplication Cardiovascular phenotype [RCV002425968] Chr7:150948880..150948881 [GRCh38]
Chr7:150645968..150645969 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.865G>C (p.Glu289Gln) single nucleotide variant Cardiovascular phenotype [RCV002449656]|Long QT syndrome [RCV003647912] Chr7:150958110 [GRCh38]
Chr7:150655198 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.729C>A (p.Ser243Arg) single nucleotide variant Cardiovascular phenotype [RCV002382718]|Long QT syndrome [RCV003103385] Chr7:150958246 [GRCh38]
Chr7:150655334 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.205_271del (p.Leu69fs) deletion Cardiovascular phenotype [RCV002421803] Chr7:150974747..150974813 [GRCh38]
Chr7:150671835..150671901 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1511C>A (p.Ala504Asp) single nucleotide variant Cardiovascular phenotype [RCV002392214] Chr7:150952471 [GRCh38]
Chr7:150649559 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1020T>C (p.Phe340=) single nucleotide variant Cardiovascular phenotype [RCV002396305] Chr7:150957399 [GRCh38]
Chr7:150654487 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2593-15_2593-5del deletion Cardiovascular phenotype [RCV002426159] Chr7:150948548..150948558 [GRCh38]
Chr7:150645636..150645646 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1943G>T (p.Gly648Val) single nucleotide variant Cardiovascular phenotype [RCV002413221] Chr7:150951450 [GRCh38]
Chr7:150648538 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.468C>A (p.Ala156=) single nucleotide variant Cardiovascular phenotype [RCV002335238]|Long QT syndrome [RCV003647887] Chr7:150959576 [GRCh38]
Chr7:150656664 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2639G>A (p.Gly880Asp) single nucleotide variant Long QT syndrome [RCV002301430] Chr7:150948497 [GRCh38]
Chr7:150645585 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.498G>C (p.Lys166Asn) single nucleotide variant Long QT syndrome [RCV002300524] Chr7:150958477 [GRCh38]
Chr7:150655565 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.473-3C>T single nucleotide variant Cardiovascular phenotype [RCV002335482] Chr7:150958505 [GRCh38]
Chr7:150655593 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.843C>A (p.Arg281=) single nucleotide variant Cardiovascular phenotype [RCV002414362] Chr7:150958132 [GRCh38]
Chr7:150655220 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1915A>G (p.Ile639Val) single nucleotide variant Cardiovascular phenotype [RCV002410603] Chr7:150951478 [GRCh38]
Chr7:150648566 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter) single nucleotide variant Cardiovascular phenotype [RCV002342559]|Long QT syndrome [RCV003096387] Chr7:150959582 [GRCh38]
Chr7:150656670 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2438C>G (p.Ala813Gly) single nucleotide variant Long QT syndrome [RCV002298210] Chr7:150949010 [GRCh38]
Chr7:150646098 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.397del (p.Met133fs) deletion Cardiovascular phenotype [RCV002375537] Chr7:150959647 [GRCh38]
Chr7:150656735 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2909G>A (p.Gly970Glu) single nucleotide variant Long QT syndrome [RCV002904896] Chr7:150947662 [GRCh38]
Chr7:150644750 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.487T>C (p.Phe163Leu) single nucleotide variant not provided [RCV002462479] Chr7:150958488 [GRCh38]
Chr7:150655576 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.836T>G (p.Val279Gly) single nucleotide variant Long QT syndrome [RCV002774963] Chr7:150958139 [GRCh38]
Chr7:150655227 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.139G>C (p.Gly47Arg) single nucleotide variant Long QT syndrome [RCV002903396] Chr7:150974879 [GRCh38]
Chr7:150671967 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1840G>A (p.Ala614Thr) single nucleotide variant Long QT syndrome [RCV002994773] Chr7:150951553 [GRCh38]
Chr7:150648641 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2531T>G (p.Met844Arg) single nucleotide variant Long QT syndrome [RCV003013533] Chr7:150948917 [GRCh38]
Chr7:150646005 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3058C>G (p.Pro1020Ala) single nucleotide variant Long QT syndrome [RCV002617321] Chr7:150947422 [GRCh38]
Chr7:150644510 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.813_818dup (p.Arg273_Glu274insSerArg) duplication not provided [RCV002511216] Chr7:150958156..150958157 [GRCh38]
Chr7:150655244..150655245 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.947T>G (p.Leu316Arg) single nucleotide variant not provided [RCV002461617] Chr7:150957472 [GRCh38]
Chr7:150654560 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.532T>C (p.Ser178Pro) single nucleotide variant Long QT syndrome [RCV003014735] Chr7:150958443 [GRCh38]
Chr7:150655531 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.376A>T (p.Ile126Phe) single nucleotide variant Long QT syndrome [RCV003011729] Chr7:150959668 [GRCh38]
Chr7:150656756 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.308-378_308-377delinsTG indel Long QT syndrome [RCV003095474] Chr7:150960113..150960114 [GRCh38]
Chr7:150657201..150657202 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1454_1462del (p.His485_Gly487del) deletion Long QT syndrome [RCV002842785] Chr7:150952520..150952528 [GRCh38]
Chr7:150649608..150649616 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2690_2691delinsCA (p.Lys897Thr) indel Long QT syndrome [RCV003099031] Chr7:150948445..150948446 [GRCh38]
Chr7:150645533..150645534 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2052C>G (p.Ile684Met) single nucleotide variant Long QT syndrome [RCV002909012] Chr7:150951014 [GRCh38]
Chr7:150648102 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.43C>G (p.Leu15Val) single nucleotide variant Long QT syndrome [RCV002756695] Chr7:150977871 [GRCh38]
Chr7:150674959 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1155G>A (p.Leu385=) single nucleotide variant Long QT syndrome [RCV003014049] Chr7:150952827 [GRCh38]
Chr7:150649915 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3331-15_3331-14del microsatellite Long QT syndrome [RCV003076320] Chr7:150945528..150945529 [GRCh38]
Chr7:150642616..150642617 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1701C>G (p.Ile567Met) single nucleotide variant Long QT syndrome [RCV003075549] Chr7:150951692 [GRCh38]
Chr7:150648780 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.786C>A (p.Gly262=) single nucleotide variant Long QT syndrome [RCV002909141] Chr7:150958189 [GRCh38]
Chr7:150655277 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2628G>A (p.Glu876=) single nucleotide variant Long QT syndrome [RCV002858623] Chr7:150948508 [GRCh38]
Chr7:150645596 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2159dup (p.Pro721_Glu722insTer) duplication Long QT syndrome [RCV002975472] Chr7:150950406..150950407 [GRCh38]
Chr7:150647494..150647495 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2069C>T (p.Pro690Leu) single nucleotide variant Long QT syndrome [RCV003014580] Chr7:150950997 [GRCh38]
Chr7:150648085 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.269A>G (p.Glu90Gly) single nucleotide variant Long QT syndrome [RCV003034392] Chr7:150974749 [GRCh38]
Chr7:150671837 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2290C>T (p.Pro764Ser) single nucleotide variant Long QT syndrome [RCV002862653] Chr7:150950276 [GRCh38]
Chr7:150647364 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.809C>T (p.Thr270Met) single nucleotide variant Long QT syndrome [RCV002972488] Chr7:150958166 [GRCh38]
Chr7:150655254 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3071A>G (p.Asn1024Ser) single nucleotide variant Long QT syndrome [RCV003011964] Chr7:150947409 [GRCh38]
Chr7:150644497 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1557+5G>A single nucleotide variant Long QT syndrome [RCV003012034] Chr7:150952420 [GRCh38]
Chr7:150649508 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.255A>C (p.Ala85=) single nucleotide variant Long QT syndrome [RCV002730287] Chr7:150974763 [GRCh38]
Chr7:150671851 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.954C>T (p.Ser318=) single nucleotide variant Long QT syndrome [RCV003074169] Chr7:150957465 [GRCh38]
Chr7:150654553 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.63G>A (p.Lys21=) single nucleotide variant Long QT syndrome [RCV002863649] Chr7:150977851 [GRCh38]
Chr7:150674939 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.778G>A (p.Ala260Thr) single nucleotide variant Long QT syndrome [RCV002994750] Chr7:150958197 [GRCh38]
Chr7:150655285 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2399-15C>T single nucleotide variant Long QT syndrome [RCV002904384] Chr7:150949064 [GRCh38]
Chr7:150646152 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2674C>G (p.Arg892Gly) single nucleotide variant Long QT syndrome [RCV002617063] Chr7:150948462 [GRCh38]
Chr7:150645550 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter) single nucleotide variant Long QT syndrome [RCV002727196]|not provided [RCV003443073] Chr7:150947458 [GRCh38]
Chr7:150644546 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_000238.4(KCNH2):c.2692+20G>T single nucleotide variant Long QT syndrome [RCV002904877] Chr7:150948424 [GRCh38]
Chr7:150645512 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3245_3251dup (p.Gly1085fs) duplication Long QT syndrome [RCV002881674] Chr7:150946955..150946956 [GRCh38]
Chr7:150644043..150644044 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.419C>T (p.Ser140Phe) single nucleotide variant Cardiac arrhythmia [RCV003591969]|not provided [RCV002512348] Chr7:150959625 [GRCh38]
Chr7:150656713 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.420C>T (p.Ser140=) single nucleotide variant Long QT syndrome [RCV002857916] Chr7:150959624 [GRCh38]
Chr7:150656712 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.141C>T (p.Gly47=) single nucleotide variant Long QT syndrome [RCV002842513] Chr7:150974877 [GRCh38]
Chr7:150671965 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2458G>C (p.Gly820Arg) single nucleotide variant Long QT syndrome [RCV002617014] Chr7:150948990 [GRCh38]
Chr7:150646078 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.662A>G (p.His221Arg) single nucleotide variant Long QT syndrome [RCV003012490] Chr7:150958313 [GRCh38]
Chr7:150655401 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3417G>A (p.Pro1139=) single nucleotide variant Long QT syndrome [RCV002975160] Chr7:150945428 [GRCh38]
Chr7:150642516 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.750G>A (p.Ser250=) single nucleotide variant Long QT syndrome [RCV002996162] Chr7:150958225 [GRCh38]
Chr7:150655313 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.548_560del (p.Gly183fs) deletion Long QT syndrome [RCV002857957] Chr7:150958415..150958427 [GRCh38]
Chr7:150655503..150655515 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.573G>A (p.Pro191=) single nucleotide variant Long QT syndrome [RCV003097645] Chr7:150958402 [GRCh38]
Chr7:150655490 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1580del (p.Ala527fs) deletion Long QT syndrome [RCV003013867] Chr7:150951813 [GRCh38]
Chr7:150648901 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.917-17G>T single nucleotide variant Long QT syndrome [RCV002819045] Chr7:150957519 [GRCh38]
Chr7:150654607 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.855C>T (p.Ala285=) single nucleotide variant Long QT syndrome [RCV003074218] Chr7:150958120 [GRCh38]
Chr7:150655208 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1661T>A (p.Met554Lys) single nucleotide variant Long QT syndrome [RCV002843486] Chr7:150951732 [GRCh38]
Chr7:150648820 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala) single nucleotide variant Long QT syndrome [RCV002914134] Chr7:150951556 [GRCh38]
Chr7:150648644 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.640G>T (p.Glu214Ter) single nucleotide variant not provided [RCV002510106] Chr7:150958335 [GRCh38]
Chr7:150655423 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1262C>G (p.Thr421Arg) single nucleotide variant Long QT syndrome [RCV002825638] Chr7:150952720 [GRCh38]
Chr7:150649808 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.911G>A (p.Ser304Asn) single nucleotide variant Long QT syndrome [RCV002953776] Chr7:150958064 [GRCh38]
Chr7:150655152 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3018C>T (p.Gly1006=) single nucleotide variant Long QT syndrome [RCV002846945] Chr7:150947462 [GRCh38]
Chr7:150644550 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2857dup (p.Leu953fs) duplication Inborn genetic diseases [RCV002707356] Chr7:150947713..150947714 [GRCh38]
Chr7:150644801..150644802 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2840G>A (p.Gly947Asp) single nucleotide variant Long QT syndrome [RCV002593358] Chr7:150947731 [GRCh38]
Chr7:150644819 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2965+14_2965+24del deletion Long QT syndrome [RCV002761310] Chr7:150947582..150947592 [GRCh38]
Chr7:150644670..150644680 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2617G>C (p.Gly873Arg) single nucleotide variant Long QT syndrome [RCV002571862] Chr7:150948519 [GRCh38]
Chr7:150645607 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.60C>T (p.Arg20=) single nucleotide variant Long QT syndrome [RCV002824752] Chr7:150977854 [GRCh38]
Chr7:150674942 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2888C>T (p.Pro963Leu) single nucleotide variant Long QT syndrome [RCV002695965] Chr7:150947683 [GRCh38]
Chr7:150644771 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1683G>C (p.Ala561=) single nucleotide variant Cardiovascular phenotype [RCV003167807]|Long QT syndrome [RCV002820281] Chr7:150951710 [GRCh38]
Chr7:150648798 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1650G>T (p.Leu550=) single nucleotide variant Long QT syndrome [RCV002914118] Chr7:150951743 [GRCh38]
Chr7:150648831 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg) single nucleotide variant Long QT syndrome [RCV003037269] Chr7:150951459 [GRCh38]
Chr7:150648547 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.842G>A (p.Arg281His) single nucleotide variant Long QT syndrome [RCV003039335] Chr7:150958133 [GRCh38]
Chr7:150655221 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2692+2_2692+25dup duplication Long QT syndrome [RCV002623127] Chr7:150948418..150948419 [GRCh38]
Chr7:150645506..150645507 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1921_1923del (p.Ser641del) deletion Long QT syndrome [RCV003018064] Chr7:150951470..150951472 [GRCh38]
Chr7:150648558..150648560 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
NM_000238.4(KCNH2):c.307+13C>G single nucleotide variant Long QT syndrome [RCV002570081] Chr7:150974698 [GRCh38]
Chr7:150671786 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1779A>G (p.Ile593Met) single nucleotide variant Long QT syndrome [RCV002979177] Chr7:150951614 [GRCh38]
Chr7:150648702 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.562_570del (p.Ala188_Ala190del) deletion Long QT syndrome [RCV002637622] Chr7:150958405..150958413 [GRCh38]
Chr7:150655493..150655501 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3330+12C>T single nucleotide variant Long QT syndrome [RCV002705970] Chr7:150946865 [GRCh38]
Chr7:150643953 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3024G>A (p.Gln1008=) single nucleotide variant Long QT syndrome [RCV002637644] Chr7:150947456 [GRCh38]
Chr7:150644544 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2593-9del deletion Long QT syndrome [RCV002781045] Chr7:150948552 [GRCh38]
Chr7:150645640 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2901G>C (p.Pro967=) single nucleotide variant Long QT syndrome [RCV002846301] Chr7:150947670 [GRCh38]
Chr7:150644758 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.567C>T (p.Gly189=) single nucleotide variant Long QT syndrome [RCV002736272] Chr7:150958408 [GRCh38]
Chr7:150655496 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3172dup (p.Ala1058fs) duplication Long QT syndrome [RCV003037267] Chr7:150947034..150947035 [GRCh38]
Chr7:150644122..150644123 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1916TCT[1] (p.Phe640del) microsatellite Long QT syndrome [RCV003037270] Chr7:150951472..150951474 [GRCh38]
Chr7:150648560..150648562 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1231G>T (p.Asp411Tyr) single nucleotide variant Long QT syndrome [RCV003037271] Chr7:150952751 [GRCh38]
Chr7:150649839 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3170G>T (p.Ser1057Ile) single nucleotide variant Long QT syndrome [RCV002796439] Chr7:150947037 [GRCh38]
Chr7:150644125 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3153-14A>G single nucleotide variant Long QT syndrome [RCV002620616] Chr7:150947068 [GRCh38]
Chr7:150644156 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1423T>A (p.Tyr475Asn) single nucleotide variant Long QT syndrome [RCV002886532] Chr7:150952559 [GRCh38]
Chr7:150649647 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3466G>T (p.Asp1156Tyr) single nucleotide variant Long QT syndrome [RCV002705974] Chr7:150945379 [GRCh38]
Chr7:150642467 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1719C>T (p.Asn573=) single nucleotide variant Long QT syndrome [RCV003078682] Chr7:150951674 [GRCh38]
Chr7:150648762 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.354G>C (p.Glu118Asp) single nucleotide variant Cardiac arrhythmia [RCV003591973]|Long QT syndrome [RCV002952494] Chr7:150959690 [GRCh38]
Chr7:150656778 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.759G>A (p.Ala253=) single nucleotide variant Long QT syndrome [RCV002735541] Chr7:150958216 [GRCh38]
Chr7:150655304 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.135C>G (p.Asn45Lys) single nucleotide variant Long QT syndrome [RCV003037273] Chr7:150974883 [GRCh38]
Chr7:150671971 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.879C>A (p.Ala293=) single nucleotide variant Long QT syndrome [RCV002736142] Chr7:150958096 [GRCh38]
Chr7:150655184 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3106G>A (p.Gly1036Ser) single nucleotide variant Long QT syndrome [RCV002639400] Chr7:150947374 [GRCh38]
Chr7:150644462 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2398+15G>A single nucleotide variant Long QT syndrome [RCV002705702] Chr7:150950153 [GRCh38]
Chr7:150647241 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1890C>G (p.Val630=) single nucleotide variant Long QT syndrome [RCV003054972] Chr7:150951503 [GRCh38]
Chr7:150648591 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2593-17_2593-16insAA insertion Long QT syndrome [RCV002705278] Chr7:150948559..150948560 [GRCh38]
Chr7:150645647..150645648 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2574C>T (p.Ile858=) single nucleotide variant Long QT syndrome [RCV002885305] Chr7:150948874 [GRCh38]
Chr7:150645962 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3419del (p.Gly1140fs) deletion Long QT syndrome [RCV003037832] Chr7:150945426 [GRCh38]
Chr7:150642514 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2840_2852del (p.Gly947fs) deletion Long QT syndrome [RCV002824819] Chr7:150947719..150947731 [GRCh38]
Chr7:150644807..150644819 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2399-22_2399-12del deletion Long QT syndrome [RCV002885335] Chr7:150949061..150949071 [GRCh38]
Chr7:150646149..150646159 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2399-6C>T single nucleotide variant Long QT syndrome [RCV002912443] Chr7:150949055 [GRCh38]
Chr7:150646143 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1947C>T (p.Ser649=) single nucleotide variant Long QT syndrome [RCV003078625] Chr7:150951119 [GRCh38]
Chr7:150648207 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.77-18T>C single nucleotide variant Long QT syndrome [RCV002620002] Chr7:150974959 [GRCh38]
Chr7:150672047 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3342C>G (p.Phe1114Leu) single nucleotide variant Long QT syndrome [RCV002760909] Chr7:150945503 [GRCh38]
Chr7:150642591 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2104del (p.Gln702fs) deletion Long QT syndrome [RCV002923698] Chr7:150950962 [GRCh38]
Chr7:150648050 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.529G>T (p.Glu177Ter) single nucleotide variant Long QT syndrome 2 [RCV003395570]|Long QT syndrome [RCV003037272] Chr7:150958446 [GRCh38]
Chr7:150655534 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2678_2683del (p.Arg893_Arg894del) deletion Long QT syndrome [RCV002639000] Chr7:150948453..150948458 [GRCh38]
Chr7:150645541..150645546 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.453C>T (p.Pro151=) single nucleotide variant Long QT syndrome [RCV002570880] Chr7:150959591 [GRCh38]
Chr7:150656679 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.738C>T (p.Gly246=) single nucleotide variant Long QT syndrome [RCV003077874] Chr7:150958237 [GRCh38]
Chr7:150655325 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.59G>C (p.Arg20Pro) single nucleotide variant Long QT syndrome [RCV003036815] Chr7:150977855 [GRCh38]
Chr7:150674943 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1904A>C (p.Asn635Thr) single nucleotide variant Long QT syndrome [RCV003055250] Chr7:150951489 [GRCh38]
Chr7:150648577 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.845C>T (p.Ala282Val) single nucleotide variant Long QT syndrome [RCV002620260] Chr7:150958130 [GRCh38]
Chr7:150655218 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.307+13C>T single nucleotide variant Long QT syndrome [RCV002638143] Chr7:150974698 [GRCh38]
Chr7:150671786 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3020G>T (p.Arg1007Leu) single nucleotide variant Long QT syndrome [RCV003008173] Chr7:150947460 [GRCh38]
Chr7:150644548 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2328C>T (p.Leu776=) single nucleotide variant Long QT syndrome [RCV003005314] Chr7:150950238 [GRCh38]
Chr7:150647326 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.470C>T (p.Pro157Leu) single nucleotide variant Long QT syndrome [RCV002766804] Chr7:150959574 [GRCh38]
Chr7:150656662 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.472+17T>C single nucleotide variant Long QT syndrome [RCV002805812] Chr7:150959555 [GRCh38]
Chr7:150656643 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2913G>A (p.Glu971=) single nucleotide variant Cardiovascular phenotype [RCV003167772]|Long QT syndrome [RCV002786584] Chr7:150947658 [GRCh38]
Chr7:150644746 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.848C>T (p.Ser283Leu) single nucleotide variant Long QT syndrome [RCV002801508] Chr7:150958127 [GRCh38]
Chr7:150655215 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1732C>T (p.His578Tyr) single nucleotide variant Long QT syndrome [RCV002667100] Chr7:150951661 [GRCh38]
Chr7:150648749 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.960G>C (p.Ser320=) single nucleotide variant Long QT syndrome [RCV002805441] Chr7:150957459 [GRCh38]
Chr7:150654547 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1770C>A (p.Gly590=) single nucleotide variant Long QT syndrome [RCV003057808] Chr7:150951623 [GRCh38]
Chr7:150648711 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2645_2656del (p.Ser882_Arg885del) deletion Long QT syndrome [RCV002852760] Chr7:150948480..150948491 [GRCh38]
Chr7:150645568..150645579 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.699G>T (p.Ala233=) single nucleotide variant Long QT syndrome [RCV002576289] Chr7:150958276 [GRCh38]
Chr7:150655364 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1720_1945+102del deletion Long QT syndrome [RCV002876682] Chr7:150951346..150951673 [GRCh38]
Chr7:150648434..150648761 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.5C>T (p.Pro2Leu) single nucleotide variant Long QT syndrome [RCV002931984] Chr7:150977909 [GRCh38]
Chr7:150674997 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2698dup (p.Glu900fs) duplication Long QT syndrome [RCV003005079] Chr7:150947872..150947873 [GRCh38]
Chr7:150644960..150644961 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2771G>T (p.Gly924Val) single nucleotide variant Long QT syndrome [RCV002595864] Chr7:150947800 [GRCh38]
Chr7:150644888 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.403_405del (p.Lys135del) deletion Long QT syndrome [RCV002786228] Chr7:150959639..150959641 [GRCh38]
Chr7:150656727..150656729 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1762_1765dup (p.Leu589fs) duplication Long QT syndrome [RCV002851438] Chr7:150951627..150951628 [GRCh38]
Chr7:150648715..150648716 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.360G>A (p.Gly120=) single nucleotide variant Long QT syndrome [RCV002790075] Chr7:150959684 [GRCh38]
Chr7:150656772 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3196C>T (p.Leu1066=) single nucleotide variant Long QT syndrome [RCV002625260] Chr7:150947011 [GRCh38]
Chr7:150644099 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.807G>A (p.Arg269=) single nucleotide variant Long QT syndrome [RCV002851034] Chr7:150958168 [GRCh38]
Chr7:150655256 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.76+16G>T single nucleotide variant Long QT syndrome [RCV003024046] Chr7:150977822 [GRCh38]
Chr7:150674910 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1703G>A (p.Trp568Ter) single nucleotide variant Long QT syndrome [RCV002917679] Chr7:150951690 [GRCh38]
Chr7:150648778 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.419C>A (p.Ser140Tyr) single nucleotide variant Long QT syndrome [RCV002643536] Chr7:150959625 [GRCh38]
Chr7:150656713 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1259A>C (p.Tyr420Ser) single nucleotide variant Long QT syndrome [RCV002828863] Chr7:150952723 [GRCh38]
Chr7:150649811 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.876C>T (p.Arg292=) single nucleotide variant Long QT syndrome [RCV003082352] Chr7:150958099 [GRCh38]
Chr7:150655187 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.790A>C (p.Ser264Arg) single nucleotide variant Long QT syndrome [RCV002574251] Chr7:150958185 [GRCh38]
Chr7:150655273 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2508C>G (p.Asp836Glu) single nucleotide variant Long QT syndrome [RCV003084444] Chr7:150948940 [GRCh38]
Chr7:150646028 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.568G>T (p.Ala190Ser) single nucleotide variant Long QT syndrome [RCV003007749] Chr7:150958407 [GRCh38]
Chr7:150655495 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2922GGA[1] (p.Glu975del) microsatellite Long QT syndrome [RCV002890077] Chr7:150947644..150947646 [GRCh38]
Chr7:150644732..150644734 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.765C>A (p.Ser255Arg) single nucleotide variant Long QT syndrome [RCV002710739] Chr7:150958210 [GRCh38]
Chr7:150655298 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.48C>A (p.Asp16Glu) single nucleotide variant Long QT syndrome [RCV002574293] Chr7:150977866 [GRCh38]
Chr7:150674954 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1414C>T (p.Arg472Cys) single nucleotide variant Long QT syndrome [RCV003083762] Chr7:150952568 [GRCh38]
Chr7:150649656 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.734C>A (p.Pro245His) single nucleotide variant Long QT syndrome [RCV002595503] Chr7:150958241 [GRCh38]
Chr7:150655329 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys) single nucleotide variant Long QT syndrome [RCV003025370] Chr7:150951488 [GRCh38]
Chr7:150648576 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.3111C>A (p.Asp1037Glu) single nucleotide variant Long QT syndrome [RCV003042935] Chr7:150947369 [GRCh38]
Chr7:150644457 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2548G>C (p.Asp850His) single nucleotide variant Long QT syndrome [RCV002712075] Chr7:150948900 [GRCh38]
Chr7:150645988 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.711C>T (p.Pro237=) single nucleotide variant Long QT syndrome [RCV002745456] Chr7:150958264 [GRCh38]
Chr7:150655352 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2134G>T (p.Asp712Tyr) single nucleotide variant Long QT syndrome [RCV003007421] Chr7:150950932 [GRCh38]
Chr7:150648020 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.180G>A (p.Met60Ile) single nucleotide variant Long QT syndrome [RCV002800772] Chr7:150974838 [GRCh38]
Chr7:150671926 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.559G>T (p.Gly187Cys) single nucleotide variant Long QT syndrome [RCV002790248] Chr7:150958416 [GRCh38]
Chr7:150655504 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.680C>A (p.Pro227His) single nucleotide variant Long QT syndrome [RCV003058791] Chr7:150958295 [GRCh38]
Chr7:150655383 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.916G>A (p.Gly306Arg) single nucleotide variant Long QT syndrome [RCV002932385] Chr7:150958059 [GRCh38]
Chr7:150655147 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1573_1590del (p.Lys525_Leu530del) deletion Long QT syndrome [RCV002830120] Chr7:150951803..150951820 [GRCh38]
Chr7:150648891..150648908 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1287T>C (p.Ala429=) single nucleotide variant Long QT syndrome [RCV002623730] Chr7:150952695 [GRCh38]
Chr7:150649783 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2704C>T (p.Pro902Ser) single nucleotide variant Long QT syndrome [RCV002918322] Chr7:150947867 [GRCh38]
Chr7:150644955 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.239C>G (p.Ala80Gly) single nucleotide variant Long QT syndrome [RCV002745270] Chr7:150974779 [GRCh38]
Chr7:150671867 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.721C>T (p.Pro241Ser) single nucleotide variant Long QT syndrome [RCV002918537] Chr7:150958254 [GRCh38]
Chr7:150655342 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1676_1682del (p.Leu559fs) deletion Long QT syndrome [RCV003043083] Chr7:150951711..150951717 [GRCh38]
Chr7:150648799..150648805 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2593-1G>C single nucleotide variant Long QT syndrome [RCV003055869] Chr7:150948544 [GRCh38]
Chr7:150645632 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.3273_3288dup (p.Val1097fs) duplication Long QT syndrome [RCV003040731] Chr7:150946918..150946919 [GRCh38]
Chr7:150644006..150644007 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1122C>T (p.Val374=) single nucleotide variant Long QT syndrome [RCV003090550] Chr7:150957297 [GRCh38]
Chr7:150654385 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.41T>A (p.Phe14Tyr) single nucleotide variant Long QT syndrome [RCV003049327] Chr7:150977873 [GRCh38]
Chr7:150674961 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2748G>A (p.Gly916=) single nucleotide variant Long QT syndrome [RCV003087961] Chr7:150947823 [GRCh38]
Chr7:150644911 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.268G>C (p.Glu90Gln) single nucleotide variant Long QT syndrome [RCV002938615] Chr7:150974750 [GRCh38]
Chr7:150671838 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3253G>C (p.Gly1085Arg) single nucleotide variant Long QT syndrome [RCV003049333] Chr7:150946954 [GRCh38]
Chr7:150644042 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1326_1347del (p.Thr443fs) deletion Long QT syndrome [RCV003064014] Chr7:150952635..150952656 [GRCh38]
Chr7:150649723..150649744 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2665_2691del (p.Leu889_Lys897del) deletion Long QT syndrome [RCV003030993] Chr7:150948445..150948471 [GRCh38]
Chr7:150645533..150645559 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2134G>A (p.Asp712Asn) single nucleotide variant Cardiovascular phenotype [RCV003170966]|Long QT syndrome [RCV003062148] Chr7:150950932 [GRCh38]
Chr7:150648020 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1842G>T (p.Ala614=) single nucleotide variant Long QT syndrome [RCV003048585] Chr7:150951551 [GRCh38]
Chr7:150648639 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1946-3dup duplication Long QT syndrome [RCV002720212] Chr7:150951122..150951123 [GRCh38]
Chr7:150648210..150648211 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2782G>T (p.Gly928Trp) single nucleotide variant Long QT syndrome [RCV003031458] Chr7:150947789 [GRCh38]
Chr7:150644877 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1919T>C (p.Phe640Ser) single nucleotide variant Long QT syndrome [RCV003030474] Chr7:150951474 [GRCh38]
Chr7:150648562 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.76+9G>A single nucleotide variant Long QT syndrome [RCV003090599] Chr7:150977829 [GRCh38]
Chr7:150674917 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.346A>C (p.Lys116Gln) single nucleotide variant Long QT syndrome [RCV002899900] Chr7:150959698 [GRCh38]
Chr7:150656786 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2289_2290dup (p.Pro764fs) duplication Long QT syndrome [RCV002806746] Chr7:150950275..150950276 [GRCh38]
Chr7:150647363..150647364 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.767T>C (p.Leu256Pro) single nucleotide variant Long QT syndrome [RCV002647524] Chr7:150958208 [GRCh38]
Chr7:150655296 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3126G>A (p.Leu1042=) single nucleotide variant Long QT syndrome [RCV002671782] Chr7:150947354 [GRCh38]
Chr7:150644442 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.494T>A (p.Leu165Gln) single nucleotide variant Long QT syndrome [RCV002810479] Chr7:150958481 [GRCh38]
Chr7:150655569 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2145+11C>G single nucleotide variant Long QT syndrome [RCV002770445] Chr7:150950910 [GRCh38]
Chr7:150647998 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2834G>A (p.Gly945Asp) single nucleotide variant Long QT syndrome [RCV003089504] Chr7:150947737 [GRCh38]
Chr7:150644825 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.27G>A (p.Ala9=) single nucleotide variant Long QT syndrome [RCV002962858] Chr7:150977887 [GRCh38]
Chr7:150674975 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.13A>C (p.Arg5=) single nucleotide variant Long QT syndrome [RCV002963061] Chr7:150977901 [GRCh38]
Chr7:150674989 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.519G>A (p.Leu173=) single nucleotide variant Long QT syndrome [RCV002597804] Chr7:150958456 [GRCh38]
Chr7:150655544 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3219G>A (p.Leu1073=) single nucleotide variant Long QT syndrome [RCV002834803] Chr7:150946988 [GRCh38]
Chr7:150644076 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.413T>C (p.Val138Ala) single nucleotide variant Long QT syndrome [RCV003009502] Chr7:150959631 [GRCh38]
Chr7:150656719 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3370dup (p.Ala1124fs) duplication Long QT syndrome [RCV003044581] Chr7:150945474..150945475 [GRCh38]
Chr7:150642562..150642563 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2965+11C>A single nucleotide variant Long QT syndrome [RCV002715031] Chr7:150947595 [GRCh38]
Chr7:150644683 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.486del (p.Phe163fs) deletion Long QT syndrome [RCV002716891] Chr7:150958489 [GRCh38]
Chr7:150655577 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2734C>G (p.Arg912Gly) single nucleotide variant Long QT syndrome [RCV003008425] Chr7:150947837 [GRCh38]
Chr7:150644925 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3100_3103dup (p.Arg1035fs) duplication Long QT syndrome [RCV002856348] Chr7:150947376..150947377 [GRCh38]
Chr7:150644464..150644465 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.77-3del deletion Long QT syndrome [RCV003026354] Chr7:150974944 [GRCh38]
Chr7:150672032 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3331-18G>T single nucleotide variant Long QT syndrome [RCV002746028] Chr7:150945532 [GRCh38]
Chr7:150642620 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3330+11G>C single nucleotide variant Long QT syndrome [RCV002630961] Chr7:150946866 [GRCh38]
Chr7:150643954 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.602C>A (p.Thr201Lys) single nucleotide variant Long QT syndrome [RCV003030311] Chr7:150958373 [GRCh38]
Chr7:150655461 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.553_560del (p.Ala185fs) deletion Long QT syndrome [RCV002806754] Chr7:150958415..150958422 [GRCh38]
Chr7:150655503..150655510 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1128+17C>T single nucleotide variant Long QT syndrome [RCV003061074] Chr7:150957274 [GRCh38]
Chr7:150654362 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.935G>T (p.Arg312Leu) single nucleotide variant Long QT syndrome [RCV003088076] Chr7:150957484 [GRCh38]
Chr7:150654572 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.639C>T (p.Asp213=) single nucleotide variant Long QT syndrome [RCV003090134] Chr7:150958336 [GRCh38]
Chr7:150655424 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.225G>A (p.Gln75=) single nucleotide variant Cardiac arrhythmia [RCV003591982]|Long QT syndrome [RCV003090140] Chr7:150974793 [GRCh38]
Chr7:150671881 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.2966-20G>A single nucleotide variant Long QT syndrome [RCV002900025] Chr7:150947534 [GRCh38]
Chr7:150644622 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000238.4(KCNH2):c.3384C>G (p.Pro1128=) single nucleotide variant Long QT syndrome [RCV002807080] Chr7:150945461 [GRCh38]
Chr7:150642549 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1241T>A (p.Ile414Asn) single nucleotide variant Long QT syndrome [RCV002834321] Chr7:150952741 [GRCh38]
Chr7:150649829 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2138T>C (p.Met713Thr) single nucleotide variant Long QT syndrome [RCV003045248] Chr7:150950928 [GRCh38]
Chr7:150648016 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2698G>A (p.Glu900Lys) single nucleotide variant Long QT syndrome [RCV003063375] Chr7:150947873 [GRCh38]
Chr7:150644961 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1946-3C>T single nucleotide variant Long QT syndrome [RCV002720492] Chr7:150951123 [GRCh38]
Chr7:150648211 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2304_2305dup (p.Leu769fs) microsatellite Long QT syndrome [RCV002988753] Chr7:150950260..150950261 [GRCh38]
Chr7:150647348..150647349 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1057A>T (p.Thr353Ser) single nucleotide variant Cardiac arrhythmia [RCV003591979]|Long QT syndrome [RCV003065266] Chr7:150957362 [GRCh38]
Chr7:150654450 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3258T>G (p.Pro1086=) single nucleotide variant Long QT syndrome [RCV002576718] Chr7:150946949 [GRCh38]
Chr7:150644037 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1372A>G (p.Ile458Val) single nucleotide variant Long QT syndrome [RCV002578064] Chr7:150952610 [GRCh38]
Chr7:150649698 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His) single nucleotide variant Long QT syndrome [RCV002938185] Chr7:150951769 [GRCh38]
Chr7:150648857 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.3163C>A (p.Arg1055=) single nucleotide variant Long QT syndrome [RCV002578117] Chr7:150947044 [GRCh38]
Chr7:150644132 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1329C>G (p.Thr443=) single nucleotide variant Long QT syndrome [RCV002717129] Chr7:150952653 [GRCh38]
Chr7:150649741 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2789G>T (p.Ser930Ile) single nucleotide variant Long QT syndrome [RCV002581538] Chr7:150947782 [GRCh38]
Chr7:150644870 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2085G>A (p.Gln695=) single nucleotide variant Long QT syndrome [RCV002898993] Chr7:150950981 [GRCh38]
Chr7:150648069 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2472C>T (p.Ala824=) single nucleotide variant Long QT syndrome [RCV003090669] Chr7:150948976 [GRCh38]
Chr7:150646064 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.76+5G>C single nucleotide variant Long QT syndrome [RCV003031156] Chr7:150977833 [GRCh38]
Chr7:150674921 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2670C>G (p.Ser890=) single nucleotide variant Long QT syndrome [RCV003062809] Chr7:150948466 [GRCh38]
Chr7:150645554 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.497A>T (p.Lys166Met) single nucleotide variant Long QT syndrome [RCV003090717] Chr7:150958478 [GRCh38]
Chr7:150655566 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.632C>T (p.Ala211Val) single nucleotide variant Long QT syndrome [RCV003062367] Chr7:150958343 [GRCh38]
Chr7:150655431 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1455C>T (p.His485=) single nucleotide variant Long QT syndrome [RCV003069203] Chr7:150952527 [GRCh38]
Chr7:150649615 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3248C>T (p.Thr1083Ile) single nucleotide variant Long QT syndrome [RCV002942693] Chr7:150946959 [GRCh38]
Chr7:150644047 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2765G>C (p.Arg922Pro) single nucleotide variant Long QT syndrome [RCV002725515] Chr7:150947806 [GRCh38]
Chr7:150644894 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1946-9_1946-2dup duplication Long QT syndrome [RCV002633195] Chr7:150951121..150951122 [GRCh38]
Chr7:150648209..150648210 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.307+7G>T single nucleotide variant Long QT syndrome [RCV002609255] Chr7:150974704 [GRCh38]
Chr7:150671792 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.546G>T (p.Ser182=) single nucleotide variant Long QT syndrome [RCV003093675] Chr7:150958429 [GRCh38]
Chr7:150655517 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.76+19T>C single nucleotide variant Long QT syndrome [RCV003071571] Chr7:150977819 [GRCh38]
Chr7:150674907 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2017_2020del (p.Tyr673fs) deletion Long QT syndrome [RCV003049806] Chr7:150951046..150951049 [GRCh38]
Chr7:150648134..150648137 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2776C>T (p.Pro926Ser) single nucleotide variant Long QT syndrome [RCV002634247] Chr7:150947795 [GRCh38]
Chr7:150644883 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.866A>G (p.Glu289Gly) single nucleotide variant Long QT syndrome [RCV002589397] Chr7:150958109 [GRCh38]
Chr7:150655197 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2382C>A (p.Val794=) single nucleotide variant Long QT syndrome [RCV002607895] Chr7:150950184 [GRCh38]
Chr7:150647272 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3376G>C (p.Glu1126Gln) single nucleotide variant Long QT syndrome [RCV003067599] Chr7:150945469 [GRCh38]
Chr7:150642557 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1558-17C>T single nucleotide variant Long QT syndrome [RCV002611204] Chr7:150951852 [GRCh38]
Chr7:150648940 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.522G>T (p.Thr174=) single nucleotide variant Long QT syndrome [RCV003071808] Chr7:150958453 [GRCh38]
Chr7:150655541 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.916+8C>T single nucleotide variant Long QT syndrome [RCV002587706] Chr7:150958051 [GRCh38]
Chr7:150655139 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2666T>C (p.Leu889Ser) single nucleotide variant Cardiovascular phenotype [RCV003278431] Chr7:150948470 [GRCh38]
Chr7:150645558 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3445C>T (p.Pro1149Ser) single nucleotide variant Cardiovascular phenotype [RCV003278432] Chr7:150945400 [GRCh38]
Chr7:150642488 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
NM_000238.4(KCNH2):c.883G>T (p.Val295Leu) single nucleotide variant Cardiovascular phenotype [RCV003165133] Chr7:150958092 [GRCh38]
Chr7:150655180 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2620A>C (p.Ser874Arg) single nucleotide variant not provided [RCV003219075] Chr7:150948516 [GRCh38]
Chr7:150645604 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1945+1G>C single nucleotide variant Cardiovascular phenotype [RCV003177767] Chr7:150951447 [GRCh38]
Chr7:150648535 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.3092_3105delinsTC (p.Gly1031_Arg1035delinsVal) indel Cardiovascular phenotype [RCV003177763] Chr7:150947375..150947388 [GRCh38]
Chr7:150644463..150644476 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3392G>A (p.Gly1131Asp) single nucleotide variant Cardiovascular phenotype [RCV003177766] Chr7:150945453 [GRCh38]
Chr7:150642541 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.299G>C (p.Arg100Pro) single nucleotide variant Cardiovascular phenotype [RCV003177764] Chr7:150974719 [GRCh38]
Chr7:150671807 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2608G>A (p.Gly870Ser) single nucleotide variant Cardiovascular phenotype [RCV003177768] Chr7:150948528 [GRCh38]
Chr7:150645616 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.692G>T (p.Arg231Leu) single nucleotide variant not provided [RCV003227241] Chr7:150958283 [GRCh38]
Chr7:150655371 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2465T>C (p.Val822Ala) single nucleotide variant not provided [RCV003319917] Chr7:150948983 [GRCh38]
Chr7:150646071 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.618C>T (p.Ser206=) single nucleotide variant Cardiovascular phenotype [RCV003310467] Chr7:150958357 [GRCh38]
Chr7:150655445 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 copy number loss not provided [RCV003334300] Chr7:140154317..152551638 [GRCh37]
Chr7:7q34-36.1		 pathogenic
NM_000238.4(KCNH2):c.2329A>G (p.Thr777Ala) single nucleotide variant Cardiovascular phenotype [RCV003358471] Chr7:150950237 [GRCh38]
Chr7:150647325 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1869C>T (p.Thr623=) single nucleotide variant Cardiovascular phenotype [RCV003358472] Chr7:150951524 [GRCh38]
Chr7:150648612 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1308G>C (p.Thr436=) single nucleotide variant Cardiovascular phenotype [RCV003360742] Chr7:150952674 [GRCh38]
Chr7:150649762 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2391C>T (p.Ala797=) single nucleotide variant Cardiovascular phenotype [RCV003350625] Chr7:150950175 [GRCh38]
Chr7:150647263 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.746del (p.Pro249fs) deletion KCNH2-related disorders [RCV003335862] Chr7:150958229 [GRCh38]
Chr7:150655317 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1754G>A (p.Trp585Ter) single nucleotide variant Long QT syndrome 2 [RCV003448552] Chr7:150951639 [GRCh38]
Chr7:150648727 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.1729C>T (p.Pro577Ser) single nucleotide variant not provided [RCV003487951] Chr7:150951664 [GRCh38]
Chr7:150648752 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1328C>A (p.Thr443Asn) single nucleotide variant Long QT syndrome [RCV003874278] Chr7:150952654 [GRCh38]
Chr7:150649742 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1 copy number loss not provided [RCV003482991] Chr7:144940098..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1 copy number loss not provided [RCV003482992] Chr7:148538593..150967829 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3257_3258insG (p.Gly1087fs) insertion Long QT syndrome 2 [RCV003484240] Chr7:150946949..150946950 [GRCh38]
Chr7:150644037..150644038 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2884_2887dup (p.Pro963fs) duplication Cardiac arrhythmia [RCV003404924] Chr7:150947683..150947684 [GRCh38]
Chr7:150644771..150644772 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1 copy number loss not provided [RCV003482989] Chr7:142099013..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_000238.4(KCNH2):c.2398+148C>T single nucleotide variant not provided [RCV003435292] Chr7:150950020 [GRCh38]
Chr7:150647108 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2690A>G (p.Lys897Arg) single nucleotide variant Cardiac arrhythmia [RCV003592254] Chr7:150948446 [GRCh38]
Chr7:150645534 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2693-9T>A single nucleotide variant Cardiac arrhythmia [RCV003592253] Chr7:150947887 [GRCh38]
Chr7:150644975 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2722T>C (p.Leu908=) single nucleotide variant Cardiac arrhythmia [RCV003592252] Chr7:150947849 [GRCh38]
Chr7:150644937 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2742_2775del (p.Ala915fs) deletion Cardiac arrhythmia [RCV003592251] Chr7:150947796..150947829 [GRCh38]
Chr7:150644884..150644917 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2803C>T (p.Pro935Ser) single nucleotide variant Cardiac arrhythmia [RCV003592250] Chr7:150947768 [GRCh38]
Chr7:150644856 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2823_2846del (p.Glu942_Ser949del) deletion Cardiac arrhythmia [RCV003592249] Chr7:150947725..150947748 [GRCh38]
Chr7:150644813..150644836 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1128+13C>A single nucleotide variant Long QT syndrome [RCV003648229] Chr7:150957278 [GRCh38]
Chr7:150654366 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3096_3097delinsAT (p.Arg1033Trp) indel Long QT syndrome [RCV003648239] Chr7:150947383..150947384 [GRCh38]
Chr7:150644471..150644472 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2937G>C (p.Lys979Asn) single nucleotide variant Cardiac arrhythmia [RCV003592248] Chr7:150947634 [GRCh38]
Chr7:150644722 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2974T>G (p.Ser992Ala) single nucleotide variant Cardiac arrhythmia [RCV003592247] Chr7:150947506 [GRCh38]
Chr7:150644594 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3003G>T (p.Trp1001Cys) single nucleotide variant Cardiac arrhythmia [RCV003592246] Chr7:150947477 [GRCh38]
Chr7:150644565 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3016G>A (p.Gly1006Ser) single nucleotide variant Cardiac arrhythmia [RCV003592245] Chr7:150947464 [GRCh38]
Chr7:150644552 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3067C>G (p.Leu1023Val) single nucleotide variant Cardiac arrhythmia [RCV003592244] Chr7:150947413 [GRCh38]
Chr7:150644501 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3089C>A (p.Pro1030Gln) single nucleotide variant Cardiac arrhythmia [RCV003592243] Chr7:150947391 [GRCh38]
Chr7:150644479 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3415C>T (p.Pro1139Ser) single nucleotide variant Cardiac arrhythmia [RCV003592242] Chr7:150945430 [GRCh38]
Chr7:150642518 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3447C>G (p.Pro1149=) single nucleotide variant Cardiac arrhythmia [RCV003592241] Chr7:150945398 [GRCh38]
Chr7:150642486 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2076C>T (p.Pro692=) single nucleotide variant Cardiac arrhythmia [RCV003592268] Chr7:150950990 [GRCh38]
Chr7:150648078 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1557+17G>A single nucleotide variant Long QT syndrome [RCV003648106] Chr7:150952408 [GRCh38]
Chr7:150649496 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.76+15G>A single nucleotide variant Long QT syndrome [RCV003648311] Chr7:150977823 [GRCh38]
Chr7:150674911 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1417A>G (p.Thr473Ala) single nucleotide variant Long QT syndrome [RCV003648329] Chr7:150952565 [GRCh38]
Chr7:150649653 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2398+4T>G single nucleotide variant Long QT syndrome [RCV003648388] Chr7:150950164 [GRCh38]
Chr7:150647252 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2811C>T (p.Ser937=) single nucleotide variant Long QT syndrome [RCV003648581] Chr7:150947760 [GRCh38]
Chr7:150644848 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.307+10G>A single nucleotide variant Long QT syndrome [RCV003648446] Chr7:150974701 [GRCh38]
Chr7:150671789 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1066C>G (p.Arg356Gly) single nucleotide variant Long QT syndrome [RCV003648468] Chr7:150957353 [GRCh38]
Chr7:150654441 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3096G>T (p.Arg1032=) single nucleotide variant Long QT syndrome [RCV003648639] Chr7:150947384 [GRCh38]
Chr7:150644472 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2243A>G (p.Lys748Arg) single nucleotide variant Long QT syndrome [RCV003648718] Chr7:150950323 [GRCh38]
Chr7:150647411 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2677A>C (p.Arg893=) single nucleotide variant Long QT syndrome [RCV003848983] Chr7:150948459 [GRCh38]
Chr7:150645547 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.510G>T (p.Leu170=) single nucleotide variant Long QT syndrome [RCV003648958] Chr7:150958465 [GRCh38]
Chr7:150655553 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.819A>G (p.Arg273=) single nucleotide variant Long QT syndrome [RCV003648786] Chr7:150958156 [GRCh38]
Chr7:150655244 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1557+13A>G single nucleotide variant Long QT syndrome [RCV003649069] Chr7:150952412 [GRCh38]
Chr7:150649500 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2868G>A (p.Val956=) single nucleotide variant Long QT syndrome [RCV003649092] Chr7:150947703 [GRCh38]
Chr7:150644791 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.18C>A (p.Gly6=) single nucleotide variant Long QT syndrome [RCV003648688] Chr7:150977896 [GRCh38]
Chr7:150674984 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2800G>T (p.Gly934Cys) single nucleotide variant Long QT syndrome [RCV003648907] Chr7:150947771 [GRCh38]
Chr7:150644859 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2256G>C (p.Arg752=) single nucleotide variant Long QT syndrome [RCV003649140] Chr7:150950310 [GRCh38]
Chr7:150647398 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2690_2691delinsCC (p.Lys897Thr) indel Long QT syndrome [RCV003649142] Chr7:150948445..150948446 [GRCh38]
Chr7:150645533..150645534 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2689A>C (p.Lys897Gln) single nucleotide variant Cardiac arrhythmia [RCV003592256] Chr7:150948447 [GRCh38]
Chr7:150645535 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2661C>T (p.Arg887=) single nucleotide variant Cardiac arrhythmia [RCV003592257] Chr7:150948475 [GRCh38]
Chr7:150645563 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2658G>C (p.Lys886Asn) single nucleotide variant Cardiac arrhythmia [RCV003592258] Chr7:150948478 [GRCh38]
Chr7:150645566 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2533T>C (p.Tyr845His) single nucleotide variant Cardiac arrhythmia [RCV003592259] Chr7:150948915 [GRCh38]
Chr7:150646003 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2524C>T (p.Leu842=) single nucleotide variant Cardiac arrhythmia [RCV003592260] Chr7:150948924 [GRCh38]
Chr7:150646012 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2692+12G>T single nucleotide variant Long QT syndrome [RCV003648919] Chr7:150948432 [GRCh38]
Chr7:150645520 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2146-8G>A single nucleotide variant Long QT syndrome [RCV003648933] Chr7:150950428 [GRCh38]
Chr7:150647516 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1558-13C>T single nucleotide variant Long QT syndrome [RCV003649006] Chr7:150951848 [GRCh38]
Chr7:150648936 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2453C>G (p.Ser818Trp) single nucleotide variant Cardiac arrhythmia [RCV003592261] Chr7:150948995 [GRCh38]
Chr7:150646083 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2392A>G (p.Ile798Val) single nucleotide variant Cardiac arrhythmia [RCV003592262] Chr7:150950174 [GRCh38]
Chr7:150647262 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2349C>T (p.Ser783=) single nucleotide variant Cardiac arrhythmia [RCV003592263] Chr7:150950217 [GRCh38]
Chr7:150647305 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2288C>G (p.Ala763Gly) single nucleotide variant Cardiac arrhythmia [RCV003592264] Chr7:150950278 [GRCh38]
Chr7:150647366 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2246G>A (p.Gly749Asp) single nucleotide variant Cardiac arrhythmia [RCV003592265] Chr7:150950320 [GRCh38]
Chr7:150647408 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2209C>T (p.Leu737=) single nucleotide variant Cardiac arrhythmia [RCV003592266] Chr7:150950357 [GRCh38]
Chr7:150647445 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2689A>G (p.Lys897Glu) single nucleotide variant Cardiac arrhythmia [RCV003592255] Chr7:150948447 [GRCh38]
Chr7:150645535 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1878C>T (p.Gly626=) single nucleotide variant Cardiac arrhythmia [RCV003592269] Chr7:150951515 [GRCh38]
Chr7:150648603 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1830G>A (p.Lys610=) single nucleotide variant Cardiac arrhythmia [RCV003592270] Chr7:150951563 [GRCh38]
Chr7:150648651 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1794C>T (p.Asn598=) single nucleotide variant Cardiac arrhythmia [RCV003592271] Chr7:150951599 [GRCh38]
Chr7:150648687 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1713C>A (p.Ile571=) single nucleotide variant Cardiac arrhythmia [RCV003592272] Chr7:150951680 [GRCh38]
Chr7:150648768 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.76+6T>C single nucleotide variant Long QT syndrome [RCV003647675] Chr7:150977832 [GRCh38]
Chr7:150674920 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3131C>T (p.Ala1044Val) single nucleotide variant Long QT syndrome [RCV003827977] Chr7:150947349 [GRCh38]
Chr7:150644437 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1558-7C>G single nucleotide variant Cardiac arrhythmia [RCV003592273] Chr7:150951842 [GRCh38]
Chr7:150648930 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1442A>T (p.Glu481Val) single nucleotide variant Cardiac arrhythmia [RCV003592274] Chr7:150952540 [GRCh38]
Chr7:150649628 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1380C>T (p.Asp460=) single nucleotide variant Cardiac arrhythmia [RCV003592275] Chr7:150952602 [GRCh38]
Chr7:150649690 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1239C>T (p.Leu413=) single nucleotide variant Cardiac arrhythmia [RCV003592276] Chr7:150952743 [GRCh38]
Chr7:150649831 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1170G>T (p.Leu390=) single nucleotide variant Cardiac arrhythmia [RCV003592277] Chr7:150952812 [GRCh38]
Chr7:150649900 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1168C>T (p.Leu390=) single nucleotide variant Cardiac arrhythmia [RCV003592278] Chr7:150952814 [GRCh38]
Chr7:150649902 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1095G>A (p.Glu365=) single nucleotide variant Cardiac arrhythmia [RCV003592279] Chr7:150957324 [GRCh38]
Chr7:150654412 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.366CAT[1] (p.Ile123del) microsatellite Cardiac arrhythmia [RCV003592282] Chr7:150959673..150959675 [GRCh38]
Chr7:150656761..150656763 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.77-10_77-9delinsAA indel Cardiac arrhythmia [RCV003592283] Chr7:150974950..150974951 [GRCh38]
Chr7:150672038..150672039 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.54C>A (p.Ile18=) single nucleotide variant Cardiac arrhythmia [RCV003592284] Chr7:150977860 [GRCh38]
Chr7:150674948 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.-10T>G single nucleotide variant Cardiac arrhythmia [RCV003592285] Chr7:150977923 [GRCh38]
Chr7:150675011 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.514G>T (p.Ala172Ser) single nucleotide variant Long QT syndrome [RCV003648571] Chr7:150958461 [GRCh38]
Chr7:150655549 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1274C>G (p.Thr425Arg) single nucleotide variant Long QT syndrome [RCV003648595] Chr7:150952708 [GRCh38]
Chr7:150649796 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2592+8G>A single nucleotide variant Long QT syndrome [RCV003648674] Chr7:150948848 [GRCh38]
Chr7:150645936 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2298G>A (p.Gly766=) single nucleotide variant Long QT syndrome [RCV003648711] Chr7:150950268 [GRCh38]
Chr7:150647356 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.241C>G (p.Gln81Glu) single nucleotide variant Long QT syndrome [RCV003648034] Chr7:150974777 [GRCh38]
Chr7:150671865 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.75G>C (p.Gln25His) single nucleotide variant Long QT syndrome [RCV003648719] Chr7:150977839 [GRCh38]
Chr7:150674927 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.569C>T (p.Ala190Val) single nucleotide variant Long QT syndrome [RCV003648063] Chr7:150958406 [GRCh38]
Chr7:150655494 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.555G>T (p.Ala185=) single nucleotide variant Long QT syndrome [RCV003648704] Chr7:150958420 [GRCh38]
Chr7:150655508 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.76+20_76+35del deletion Long QT syndrome [RCV003648802] Chr7:150977803..150977818 [GRCh38]
Chr7:150674891..150674906 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.38C>T (p.Thr13Ile) single nucleotide variant Long QT syndrome [RCV003648803] Chr7:150977876 [GRCh38]
Chr7:150674964 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.238G>T (p.Ala80Ser) single nucleotide variant Long QT syndrome [RCV003648807] Chr7:150974780 [GRCh38]
Chr7:150671868 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.537G>A (p.Ser179=) single nucleotide variant Long QT syndrome [RCV003649099] Chr7:150958438 [GRCh38]
Chr7:150655526 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1041C>T (p.Pro347=) single nucleotide variant Cardiac arrhythmia [RCV003592280]|Long QT syndrome [RCV003647991] Chr7:150957378 [GRCh38]
Chr7:150654466 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2846G>T (p.Ser949Ile) single nucleotide variant Long QT syndrome [RCV003648248] Chr7:150947725 [GRCh38]
Chr7:150644813 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1842G>C (p.Ala614=) single nucleotide variant Long QT syndrome [RCV003648862] Chr7:150951551 [GRCh38]
Chr7:150648639 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1129-18C>A single nucleotide variant Long QT syndrome [RCV003649110] Chr7:150952871 [GRCh38]
Chr7:150649959 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2534_2541del (p.Tyr845fs) deletion Long QT syndrome [RCV003648258] Chr7:150948907..150948914 [GRCh38]
Chr7:150645995..150646002 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2658_2659delinsAA (p.Arg887Ser) indel Long QT syndrome [RCV003648295] Chr7:150948477..150948478 [GRCh38]
Chr7:150645565..150645566 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1150G>A (p.Val384Met) single nucleotide variant Long QT syndrome [RCV003648693] Chr7:150952832 [GRCh38]
Chr7:150649920 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.308-15C>T single nucleotide variant Long QT syndrome [RCV003648794] Chr7:150959751 [GRCh38]
Chr7:150656839 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2244G>A (p.Lys748=) single nucleotide variant Long QT syndrome [RCV003829141] Chr7:150950322 [GRCh38]
Chr7:150647410 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1578T>C (p.Thr526=) single nucleotide variant Long QT syndrome [RCV003647435] Chr7:150951815 [GRCh38]
Chr7:150648903 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1304A>G (p.Glu435Gly) single nucleotide variant Long QT syndrome [RCV003648903] Chr7:150952678 [GRCh38]
Chr7:150649766 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3153-4C>G single nucleotide variant Long QT syndrome [RCV003647489] Chr7:150947058 [GRCh38]
Chr7:150644146 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3194A>G (p.Gln1065Arg) single nucleotide variant Long QT syndrome [RCV003648954] Chr7:150947013 [GRCh38]
Chr7:150644101 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.489C>G (p.Phe163Leu) single nucleotide variant Long QT syndrome [RCV003881428] Chr7:150958486 [GRCh38]
Chr7:150655574 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2965+13_2965+17dup duplication Long QT syndrome [RCV003648360] Chr7:150947588..150947589 [GRCh38]
Chr7:150644676..150644677 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.308-18T>C single nucleotide variant Long QT syndrome [RCV003649035] Chr7:150959754 [GRCh38]
Chr7:150656842 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3330+8C>T single nucleotide variant Long QT syndrome [RCV003647585] Chr7:150946869 [GRCh38]
Chr7:150643957 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+11A>G single nucleotide variant Long QT syndrome [RCV003648393] Chr7:150957280 [GRCh38]
Chr7:150654368 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3236G>A (p.Ser1079Asn) single nucleotide variant Long QT syndrome [RCV003649071] Chr7:150946971 [GRCh38]
Chr7:150644059 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1938C>T (p.Leu646=) single nucleotide variant Long QT syndrome [RCV003649084] Chr7:150951455 [GRCh38]
Chr7:150648543 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2952C>T (p.Cys984=) single nucleotide variant Long QT syndrome [RCV003649088] Chr7:150947619 [GRCh38]
Chr7:150644707 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.967G>C (p.Asp323His) single nucleotide variant Long QT syndrome [RCV003880730] Chr7:150957452 [GRCh38]
Chr7:150654540 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.171C>T (p.Ala57=) single nucleotide variant Long QT syndrome [RCV003648437] Chr7:150974847 [GRCh38]
Chr7:150671935 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2009C>T (p.Thr670Ile) single nucleotide variant Long QT syndrome [RCV003649132] Chr7:150951057 [GRCh38]
Chr7:150648145 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.69G>A (p.Glu23=) single nucleotide variant Long QT syndrome [RCV003647531] Chr7:150977845 [GRCh38]
Chr7:150674933 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.76+11G>A single nucleotide variant Long QT syndrome [RCV003825021] Chr7:150977827 [GRCh38]
Chr7:150674915 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.978del (p.Tyr327fs) deletion Long QT syndrome [RCV003647700] Chr7:150957441 [GRCh38]
Chr7:150654529 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2482T>A (p.Cys828Ser) single nucleotide variant Long QT syndrome [RCV003647704] Chr7:150948966 [GRCh38]
Chr7:150646054 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1260C>G (p.Tyr420Ter) single nucleotide variant Long QT syndrome [RCV003647711] Chr7:150952722 [GRCh38]
Chr7:150649810 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2521G>T (p.Val841Leu) single nucleotide variant Long QT syndrome [RCV003648461] Chr7:150948927 [GRCh38]
Chr7:150646015 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.757dup (p.Ala253fs) duplication Long QT syndrome [RCV003647287] Chr7:150958217..150958218 [GRCh38]
Chr7:150655305..150655306 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.164C>G (p.Ser55Trp) single nucleotide variant Long QT syndrome [RCV003647723] Chr7:150974854 [GRCh38]
Chr7:150671942 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.650C>A (p.Ala217Asp) single nucleotide variant Long QT syndrome [RCV003648497] Chr7:150958325 [GRCh38]
Chr7:150655413 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1557+18G>A single nucleotide variant Long QT syndrome [RCV003648503] Chr7:150952407 [GRCh38]
Chr7:150649495 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3330+10A>G single nucleotide variant Long QT syndrome [RCV003648529] Chr7:150946867 [GRCh38]
Chr7:150643955 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.77-7C>A single nucleotide variant Long QT syndrome [RCV003828532] Chr7:150974948 [GRCh38]
Chr7:150672036 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1945+13del deletion Long QT syndrome [RCV003648549] Chr7:150951435 [GRCh38]
Chr7:150648523 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.990T>G (p.Ile330Met) single nucleotide variant Long QT syndrome [RCV003648932] Chr7:150957429 [GRCh38]
Chr7:150654517 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.540G>A (p.Val180=) single nucleotide variant Long QT syndrome [RCV003648938] Chr7:150958435 [GRCh38]
Chr7:150655523 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2973C>G (p.Phe991Leu) single nucleotide variant Long QT syndrome [RCV003648945] Chr7:150947507 [GRCh38]
Chr7:150644595 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3208C>T (p.Gln1070Ter) single nucleotide variant Long QT syndrome [RCV003648968] Chr7:150946999 [GRCh38]
Chr7:150644087 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2718G>A (p.Ser906=) single nucleotide variant Long QT syndrome [RCV003649000] Chr7:150947853 [GRCh38]
Chr7:150644941 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.936C>T (p.Arg312=) single nucleotide variant Long QT syndrome [RCV003649076] Chr7:150957483 [GRCh38]
Chr7:150654571 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.668_671del (p.Ala223fs) deletion Long QT syndrome [RCV003649120] Chr7:150958304..150958307 [GRCh38]
Chr7:150655392..150655395 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1558-7C>T single nucleotide variant Long QT syndrome [RCV003649128] Chr7:150951842 [GRCh38]
Chr7:150648930 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2692+21_2692+47del deletion Long QT syndrome [RCV003649060] Chr7:150948397..150948423 [GRCh38]
Chr7:150645485..150645511 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2592+17G>A single nucleotide variant Long QT syndrome [RCV003649152] Chr7:150948839 [GRCh38]
Chr7:150645927 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.718C>G (p.Pro240Ala) single nucleotide variant Long QT syndrome [RCV003648603] Chr7:150958257 [GRCh38]
Chr7:150655345 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.542G>C (p.Arg181Pro) single nucleotide variant Long QT syndrome [RCV003648633] Chr7:150958433 [GRCh38]
Chr7:150655521 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2592+16T>A single nucleotide variant Long QT syndrome [RCV003878353] Chr7:150948840 [GRCh38]
Chr7:150645928 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1872T>C (p.Ser624=) single nucleotide variant Long QT syndrome [RCV003648751] Chr7:150951521 [GRCh38]
Chr7:150648609 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2965+15G>T single nucleotide variant Long QT syndrome [RCV003648768] Chr7:150947591 [GRCh38]
Chr7:150644679 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.906C>T (p.His302=) single nucleotide variant Long QT syndrome [RCV003648816] Chr7:150958069 [GRCh38]
Chr7:150655157 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.116G>A (p.Cys39Tyr) single nucleotide variant Long QT syndrome [RCV003648822] Chr7:150974902 [GRCh38]
Chr7:150671990 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.246C>G (p.Ile82Met) single nucleotide variant Long QT syndrome [RCV003648841] Chr7:150974772 [GRCh38]
Chr7:150671860 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3348G>T (p.Ala1116=) single nucleotide variant Cardiac arrhythmia [RCV003591543]|Long QT syndrome [RCV003531879] Chr7:150945497 [GRCh38]
Chr7:150642585 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+13C>G single nucleotide variant Long QT syndrome [RCV003648855] Chr7:150957278 [GRCh38]
Chr7:150654366 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3076C>T (p.Pro1026Ser) single nucleotide variant Long QT syndrome [RCV003648175] Chr7:150947404 [GRCh38]
Chr7:150644492 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2207T>C (p.Leu736Pro) single nucleotide variant Long QT syndrome [RCV003648237] Chr7:150950359 [GRCh38]
Chr7:150647447 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1144G>A (p.Ala382Thr) single nucleotide variant Long QT syndrome [RCV003648883] Chr7:150952838 [GRCh38]
Chr7:150649926 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1089A>T (p.Ile363=) single nucleotide variant Long QT syndrome [RCV003648287] Chr7:150957330 [GRCh38]
Chr7:150654418 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3153-18C>A single nucleotide variant Long QT syndrome [RCV003648867] Chr7:150947072 [GRCh38]
Chr7:150644160 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.308-19A>G single nucleotide variant Long QT syndrome [RCV003648904] Chr7:150959755 [GRCh38]
Chr7:150656843 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3433C>G (p.Leu1145Val) single nucleotide variant Long QT syndrome [RCV003648403] Chr7:150945412 [GRCh38]
Chr7:150642500 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.835del (p.Val279fs) deletion Long QT syndrome [RCV003648567] Chr7:150958140 [GRCh38]
Chr7:150655228 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.860A>G (p.Asp287Gly) single nucleotide variant Long QT syndrome [RCV003879761] Chr7:150958115 [GRCh38]
Chr7:150655203 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1829A>G (p.Lys610Arg) single nucleotide variant Long QT syndrome [RCV003648620] Chr7:150951564 [GRCh38]
Chr7:150648652 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3351T>C (p.Cys1117=) single nucleotide variant Long QT syndrome [RCV003647400] Chr7:150945494 [GRCh38]
Chr7:150642582 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.909C>G (p.Ala303=) single nucleotide variant Long QT syndrome [RCV003648655] Chr7:150958066 [GRCh38]
Chr7:150655154 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1227G>C (p.Val409=) single nucleotide variant Long QT syndrome [RCV003648722] Chr7:150952755 [GRCh38]
Chr7:150649843 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.268G>T (p.Glu90Ter) single nucleotide variant Long QT syndrome [RCV003648709] Chr7:150974750 [GRCh38]
Chr7:150671838 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.3291C>A (p.Val1097=) single nucleotide variant Long QT syndrome [RCV003648027] Chr7:150946916 [GRCh38]
Chr7:150644004 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2692+9G>A single nucleotide variant Long QT syndrome [RCV003648761] Chr7:150948435 [GRCh38]
Chr7:150645523 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2079G>A (p.Leu693=) single nucleotide variant Cardiac arrhythmia [RCV003592267]|Long QT syndrome [RCV003647990] Chr7:150950987 [GRCh38]
Chr7:150648075 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.929C>A (p.Pro310Gln) single nucleotide variant Cardiac arrhythmia [RCV003592281]|Long QT syndrome [RCV003647992] Chr7:150957490 [GRCh38]
Chr7:150654578 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1771G>C (p.Asp591His) single nucleotide variant Long QT syndrome [RCV003647478] Chr7:150951622 [GRCh38]
Chr7:150648710 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2914C>A (p.Pro972Thr) single nucleotide variant Long QT syndrome [RCV003648055] Chr7:150947657 [GRCh38]
Chr7:150644745 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1605G>T (p.Val535=) single nucleotide variant Long QT syndrome [RCV003648085] Chr7:150951788 [GRCh38]
Chr7:150648876 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1945+10C>G single nucleotide variant Long QT syndrome [RCV003647447] Chr7:150951438 [GRCh38]
Chr7:150648526 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1294C>T (p.Leu432=) single nucleotide variant Long QT syndrome [RCV003647511] Chr7:150952688 [GRCh38]
Chr7:150649776 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.392T>C (p.Val131Ala) single nucleotide variant Long QT syndrome [RCV003647517] Chr7:150959652 [GRCh38]
Chr7:150656740 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3385C>G (p.Gln1129Glu) single nucleotide variant Long QT syndrome [RCV003648419] Chr7:150945460 [GRCh38]
Chr7:150642548 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1976T>G (p.Val659Gly) single nucleotide variant Long QT syndrome [RCV003878681] Chr7:150951090 [GRCh38]
Chr7:150648178 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.742C>G (p.Leu248Val) single nucleotide variant Long QT syndrome [RCV003827349] Chr7:150958233 [GRCh38]
Chr7:150655321 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3312C>T (p.Thr1104=) single nucleotide variant Long QT syndrome [RCV003648472] Chr7:150946895 [GRCh38]
Chr7:150643983 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1195A>G (p.Thr399Ala) single nucleotide variant Long QT syndrome [RCV003648494] Chr7:150952787 [GRCh38]
Chr7:150649875 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.972C>G (p.Leu324=) single nucleotide variant Long QT syndrome [RCV003882680] Chr7:150957447 [GRCh38]
Chr7:150654535 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.77-16C>T single nucleotide variant Long QT syndrome [RCV003648252] Chr7:150974957 [GRCh38]
Chr7:150672045 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2146-9T>C single nucleotide variant Long QT syndrome [RCV003648257] Chr7:150950429 [GRCh38]
Chr7:150647517 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.821A>G (p.Glu274Gly) single nucleotide variant Long QT syndrome [RCV003648481] Chr7:150958154 [GRCh38]
Chr7:150655242 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.935G>C (p.Arg312Pro) single nucleotide variant Long QT syndrome [RCV003647279] Chr7:150957484 [GRCh38]
Chr7:150654572 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2348C>A (p.Ser783Tyr) single nucleotide variant Long QT syndrome [RCV003648296] Chr7:150950218 [GRCh38]
Chr7:150647306 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2145+6G>T single nucleotide variant Long QT syndrome [RCV003648297] Chr7:150950915 [GRCh38]
Chr7:150648003 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3263C>T (p.Pro1088Leu) single nucleotide variant Long QT syndrome [RCV003648309] Chr7:150946944 [GRCh38]
Chr7:150644032 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3228C>A (p.Pro1076=) single nucleotide variant Long QT syndrome [RCV003648509] Chr7:150946979 [GRCh38]
Chr7:150644067 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1128+17C>G single nucleotide variant Long QT syndrome [RCV003881418] Chr7:150957274 [GRCh38]
Chr7:150654362 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3460G>T (p.Gly1154Cys) single nucleotide variant Long QT syndrome [RCV003648326] Chr7:150945385 [GRCh38]
Chr7:150642473 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.688G>T (p.Glu230Ter) single nucleotide variant Long QT syndrome [RCV003648353] Chr7:150958287 [GRCh38]
Chr7:150655375 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.915C>T (p.Thr305=) single nucleotide variant Long QT syndrome [RCV003647315] Chr7:150958060 [GRCh38]
Chr7:150655148 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3281dup (p.Leu1095fs) duplication Long QT syndrome [RCV003648363] Chr7:150946925..150946926 [GRCh38]
Chr7:150644013..150644014 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.222G>C (p.Thr74=) single nucleotide variant Long QT syndrome [RCV003648371] Chr7:150974796 [GRCh38]
Chr7:150671884 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1580C>T (p.Ala527Val) single nucleotide variant Long QT syndrome [RCV003533993] Chr7:150951813 [GRCh38]
Chr7:150648901 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.99C>A (p.Asn33Lys) single nucleotide variant Long QT syndrome [RCV003534008] Chr7:150974919 [GRCh38]
Chr7:150672007 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.680C>G (p.Pro227Arg) single nucleotide variant Long QT syndrome [RCV003532393] Chr7:150958295 [GRCh38]
Chr7:150655383 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3094_3095dup (p.Arg1033fs) duplication Long QT syndrome [RCV003532404] Chr7:150947384..150947385 [GRCh38]
Chr7:150644472..150644473 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1902C>A (p.Thr634=) single nucleotide variant Long QT syndrome [RCV003534149] Chr7:150951491 [GRCh38]
Chr7:150648579 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1446G>A (p.Val482=) single nucleotide variant Long QT syndrome [RCV003534123] Chr7:150952536 [GRCh38]
Chr7:150649624 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3255G>C (p.Gly1085=) single nucleotide variant Long QT syndrome [RCV003534197] Chr7:150946952 [GRCh38]
Chr7:150644040 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3166C>A (p.Leu1056Met) single nucleotide variant Long QT syndrome [RCV003532498] Chr7:150947041 [GRCh38]
Chr7:150644129 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2398_2398+21del deletion Long QT syndrome [RCV003532509] Chr7:150950147..150950168 [GRCh38]
Chr7:150647235..150647256 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.1000C>T (p.Pro334Ser) single nucleotide variant Long QT syndrome [RCV003532493] Chr7:150957419 [GRCh38]
Chr7:150654507 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.624G>A (p.Glu208=) single nucleotide variant Long QT syndrome [RCV003534165] Chr7:150958351 [GRCh38]
Chr7:150655439 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1998G>T (p.Leu666=) single nucleotide variant Long QT syndrome [RCV003534243] Chr7:150951068 [GRCh38]
Chr7:150648156 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2162_2163del (p.Pro721fs) deletion Long QT syndrome [RCV003534282] Chr7:150950403..150950404 [GRCh38]
Chr7:150647491..150647492 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.545C>T (p.Ser182Leu) single nucleotide variant Long QT syndrome [RCV003534269] Chr7:150958430 [GRCh38]
Chr7:150655518 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.152T>C (p.Leu51Pro) single nucleotide variant Long QT syndrome [RCV003534281] Chr7:150974866 [GRCh38]
Chr7:150671954 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.769_854delinsGAGCCCGAGGCGT (p.Asn257fs) indel Long QT syndrome [RCV003531441] Chr7:150958121..150958206 [GRCh38]
Chr7:150655209..150655294 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.159C>G (p.Gly53=) single nucleotide variant Long QT syndrome [RCV003531453] Chr7:150974859 [GRCh38]
Chr7:150671947 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3280C>T (p.Leu1094=) single nucleotide variant Long QT syndrome [RCV003531419] Chr7:150946927 [GRCh38]
Chr7:150644015 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.917-13C>T single nucleotide variant Long QT syndrome [RCV003834326] Chr7:150957515 [GRCh38]
Chr7:150654603 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2399-2A>G single nucleotide variant Long QT syndrome [RCV003531545] Chr7:150949051 [GRCh38]
Chr7:150646139 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2353G>A (p.Gly785Ser) single nucleotide variant Long QT syndrome [RCV003531546] Chr7:150950213 [GRCh38]
Chr7:150647301 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1956del (p.Met651_Tyr652insTer) deletion Long QT syndrome [RCV003531547] Chr7:150951110 [GRCh38]
Chr7:150648198 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2965+19G>A single nucleotide variant Long QT syndrome [RCV003531484] Chr7:150947587 [GRCh38]
Chr7:150644675 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1877del (p.Gly626fs) deletion Long QT syndrome [RCV003531548] Chr7:150951516 [GRCh38]
Chr7:150648604 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2593-17A>G single nucleotide variant Long QT syndrome [RCV003531585] Chr7:150948560 [GRCh38]
Chr7:150645648 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.897A>C (p.Pro299=) single nucleotide variant Long QT syndrome [RCV003531591] Chr7:150958078 [GRCh38]
Chr7:150655166 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2577C>T (p.Thr859=) single nucleotide variant Long QT syndrome [RCV003531657] Chr7:150948871 [GRCh38]
Chr7:150645959 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.488T>G (p.Phe163Cys) single nucleotide variant Long QT syndrome [RCV003531667] Chr7:150958487 [GRCh38]
Chr7:150655575 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1806G>A (p.Leu602=) single nucleotide variant Long QT syndrome [RCV003531739] Chr7:150951587 [GRCh38]
Chr7:150648675 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2705C>T (p.Pro902Leu) single nucleotide variant Long QT syndrome [RCV003531734] Chr7:150947866 [GRCh38]
Chr7:150644954 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.659del (p.Asn220fs) deletion Long QT syndrome [RCV003531792] Chr7:150958316 [GRCh38]
Chr7:150655404 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.627G>T (p.Ser209=) single nucleotide variant Long QT syndrome [RCV003533892] Chr7:150958348 [GRCh38]
Chr7:150655436 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.917-16C>G single nucleotide variant Long QT syndrome [RCV003531793] Chr7:150957518 [GRCh38]
Chr7:150654606 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.767dup (p.Asn257fs) duplication Long QT syndrome [RCV003531812] Chr7:150958207..150958208 [GRCh38]
Chr7:150655295..150655296 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2146-17C>T single nucleotide variant Long QT syndrome [RCV003532450] Chr7:150950437 [GRCh38]
Chr7:150647525 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3387A>G (p.Gln1129=) single nucleotide variant Long QT syndrome [RCV003816777] Chr7:150945458 [GRCh38]
Chr7:150642546 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3153-15C>A single nucleotide variant Long QT syndrome [RCV003856484] Chr7:150947069 [GRCh38]
Chr7:150644157 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3380T>C (p.Leu1127Pro) single nucleotide variant Long QT syndrome [RCV003532527] Chr7:150945465 [GRCh38]
Chr7:150642553 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.942C>T (p.Gly314=) single nucleotide variant Long QT syndrome [RCV003532531] Chr7:150957477 [GRCh38]
Chr7:150654565 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.550G>A (p.Gly184Ser) single nucleotide variant Long QT syndrome [RCV003836645] Chr7:150958425 [GRCh38]
Chr7:150655513 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1328_1349dup (p.Gln450fs) duplication Long QT syndrome [RCV003532535] Chr7:150952632..150952633 [GRCh38]
Chr7:150649720..150649721 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.2641_2646del (p.Phe881_Ser882del) deletion Long QT syndrome [RCV003531666] Chr7:150948490..150948495 [GRCh38]
Chr7:150645578..150645583 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3098_3101dup (p.Arg1035fs) duplication Long QT syndrome [RCV003531704] Chr7:150947378..150947379 [GRCh38]
Chr7:150644466..150644467 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1626C>A (p.Tyr542Ter) single nucleotide variant Long QT syndrome [RCV003531741] Chr7:150951767 [GRCh38]
Chr7:150648855 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.169G>T (p.Ala57Ser) single nucleotide variant Long QT syndrome [RCV003531772] Chr7:150974849 [GRCh38]
Chr7:150671937 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2748_2766del (p.Pro917fs) deletion Long QT syndrome [RCV003533890] Chr7:150947805..150947823 [GRCh38]
Chr7:150644893..150644911 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1945+19G>A single nucleotide variant Long QT syndrome [RCV003840506] Chr7:150951429 [GRCh38]
Chr7:150648517 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.172G>T (p.Glu58Ter) single nucleotide variant Long QT syndrome [RCV003531706] Chr7:150974846 [GRCh38]
Chr7:150671934 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1065C>G (p.Asp355Glu) single nucleotide variant Long QT syndrome [RCV003533926] Chr7:150957354 [GRCh38]
Chr7:150654442 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2592+9G>A single nucleotide variant Long QT syndrome [RCV003533927] Chr7:150948847 [GRCh38]
Chr7:150645935 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1570C>T (p.Leu524=) single nucleotide variant Long QT syndrome [RCV003531457] Chr7:150951823 [GRCh38]
Chr7:150648911 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2991T>A (p.Ile997=) single nucleotide variant Long QT syndrome [RCV003531464] Chr7:150947489 [GRCh38]
Chr7:150644577 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2796C>T (p.Ser932=) single nucleotide variant Long QT syndrome [RCV003851090] Chr7:150947775 [GRCh38]
Chr7:150644863 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3133C>A (p.Leu1045Ile) single nucleotide variant Long QT syndrome [RCV003856413] Chr7:150947347 [GRCh38]
Chr7:150644435 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1819A>C (p.Ile607Leu) single nucleotide variant Long QT syndrome [RCV003531440] Chr7:150951574 [GRCh38]
Chr7:150648662 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.182A>G (p.Gln61Arg) single nucleotide variant Long QT syndrome [RCV003531550] Chr7:150974836 [GRCh38]
Chr7:150671924 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1922C>G (p.Ser641Cys) single nucleotide variant Long QT syndrome [RCV003531672] Chr7:150951471 [GRCh38]
Chr7:150648559 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2954A>T (p.Asn985Ile) single nucleotide variant Long QT syndrome [RCV003531729] Chr7:150947617 [GRCh38]
Chr7:150644705 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1915A>T (p.Ile639Phe) single nucleotide variant Long QT syndrome [RCV003531732] Chr7:150951478 [GRCh38]
Chr7:150648566 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2365A>T (p.Ile789Phe) single nucleotide variant Long QT syndrome [RCV003531740] Chr7:150950201 [GRCh38]
Chr7:150647289 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2648_2652dup (p.Arg885fs) duplication Long QT syndrome [RCV003531749] Chr7:150948483..150948484 [GRCh38]
Chr7:150645571..150645572 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1208A>G (p.Tyr403Cys) single nucleotide variant Long QT syndrome [RCV003531802] Chr7:150952774 [GRCh38]
Chr7:150649862 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1624del (p.Tyr542fs) deletion Long QT syndrome [RCV003531867] Chr7:150951769 [GRCh38]
Chr7:150648857 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1181del (p.Arg394fs) deletion Long QT syndrome [RCV003531887] Chr7:150952801 [GRCh38]
Chr7:150649889 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.96C>T (p.Ala32=) single nucleotide variant Long QT syndrome [RCV003811959] Chr7:150974922 [GRCh38]
Chr7:150672010 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.522G>C (p.Thr174=) single nucleotide variant Long QT syndrome [RCV003815777] Chr7:150958453 [GRCh38]
Chr7:150655541 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3357G>C (p.Glu1119Asp) single nucleotide variant Long QT syndrome [RCV003532430] Chr7:150945488 [GRCh38]
Chr7:150642576 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2397G>C (p.Leu799=) single nucleotide variant Long QT syndrome [RCV003532510] Chr7:150950169 [GRCh38]
Chr7:150647257 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.580G>T (p.Val194Leu) single nucleotide variant Long QT syndrome [RCV003534100] Chr7:150958395 [GRCh38]
Chr7:150655483 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3105G>A (p.Arg1035=) single nucleotide variant Cardiac arrhythmia [RCV003592646]|Long QT syndrome [RCV003534070] Chr7:150947375 [GRCh38]
Chr7:150644463 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2443C>G (p.Pro815Ala) single nucleotide variant Long QT syndrome [RCV003534032] Chr7:150949005 [GRCh38]
Chr7:150646093 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.21C>T (p.His7=) single nucleotide variant Long QT syndrome [RCV003531406] Chr7:150977893 [GRCh38]
Chr7:150674981 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3330+15T>G single nucleotide variant Long QT syndrome [RCV003531502] Chr7:150946862 [GRCh38]
Chr7:150643950 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2911G>A (p.Glu971Lys) single nucleotide variant Long QT syndrome [RCV003531544] Chr7:150947660 [GRCh38]
Chr7:150644748 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.672G>T (p.Gly224=) single nucleotide variant Long QT syndrome [RCV003532514] Chr7:150958303 [GRCh38]
Chr7:150655391 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3262C>A (p.Pro1088Thr) single nucleotide variant Long QT syndrome [RCV003534217] Chr7:150946945 [GRCh38]
Chr7:150644033 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.1735A>G (p.Met579Val) single nucleotide variant Long QT syndrome [RCV003534224] Chr7:150951658 [GRCh38]
Chr7:150648746 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3153-1G>C single nucleotide variant Long QT syndrome [RCV003531684] Chr7:150947055 [GRCh38]
Chr7:150644143 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.292_293delinsGC (p.Phe98Ala) indel Long QT syndrome [RCV003532473] Chr7:150974725..150974726 [GRCh38]
Chr7:150671813..150671814 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.300G>A (p.Arg100=) single nucleotide variant Long QT syndrome [RCV003531735] Chr7:150974718 [GRCh38]
Chr7:150671806 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2792C>A (p.Pro931Gln) single nucleotide variant Long QT syndrome [RCV003533873] Chr7:150947779 [GRCh38]
Chr7:150644867 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2996G>C (p.Ser999Thr) single nucleotide variant Long QT syndrome [RCV003531882] Chr7:150947484 [GRCh38]
Chr7:150644572 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2156dup (p.Phe720fs) duplication Long QT syndrome [RCV003533954] Chr7:150950409..150950410 [GRCh38]
Chr7:150647497..150647498 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.76+17del deletion Long QT syndrome [RCV003854720] Chr7:150977821 [GRCh38]
Chr7:150674909 [GRCh37]
Chr7:7q36.1		 benign
NM_000238.4(KCNH2):c.2770_2778dup (p.Pro926_Trp927insGlyGlyPro) duplication Long QT syndrome [RCV003531460] Chr7:150947792..150947793 [GRCh38]
Chr7:150644880..150644881 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.446G>T (p.Gly149Val) single nucleotide variant Long QT syndrome [RCV003534146] Chr7:150959598 [GRCh38]
Chr7:150656686 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.922A>G (p.Met308Val) single nucleotide variant Cardiac arrhythmia [RCV003593305]|Long QT syndrome [RCV003531549] Chr7:150957497 [GRCh38]
Chr7:150654585 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3264C>A (p.Pro1088=) single nucleotide variant Long QT syndrome [RCV003534216] Chr7:150946943 [GRCh38]
Chr7:150644031 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2124C>G (p.Thr708=) single nucleotide variant Long QT syndrome [RCV003531773] Chr7:150950942 [GRCh38]
Chr7:150648030 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2661C>A (p.Arg887=) single nucleotide variant Long QT syndrome [RCV003533872] Chr7:150948475 [GRCh38]
Chr7:150645563 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1558-11C>A single nucleotide variant Long QT syndrome [RCV003531854] Chr7:150951846 [GRCh38]
Chr7:150648934 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.3194_3330+68del deletion Long QT syndrome [RCV003531858] Chr7:150946809..150947013 [GRCh38]
Chr7:150643897..150644101 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.1852A>G (p.Thr618Ala) single nucleotide variant Long QT syndrome [RCV003533920] Chr7:150951541 [GRCh38]
Chr7:150648629 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3153-5C>T single nucleotide variant Long QT syndrome [RCV003832188] Chr7:150947059 [GRCh38]
Chr7:150644147 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2804C>A (p.Pro935His) single nucleotide variant Long QT syndrome [RCV003836451] Chr7:150947767 [GRCh38]
Chr7:150644855 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.126C>T (p.Ile42=) single nucleotide variant Long QT syndrome [RCV003822871] Chr7:150974892 [GRCh38]
Chr7:150671980 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1278C>G (p.Pro426=) single nucleotide variant Long QT syndrome [RCV003846463] Chr7:150952704 [GRCh38]
Chr7:150649792 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2992T>G (p.Phe998Val) single nucleotide variant Long QT syndrome [RCV003821255] Chr7:150947488 [GRCh38]
Chr7:150644576 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.439C>T (p.His147Tyr) single nucleotide variant Long QT syndrome [RCV003824088] Chr7:150959605 [GRCh38]
Chr7:150656693 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.3331-10T>C single nucleotide variant Long QT syndrome [RCV003853744] Chr7:150945524 [GRCh38]
Chr7:150642612 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1 copy number loss not specified [RCV003986691] Chr7:148896264..150963866 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000238.4(KCNH2):c.396G>T (p.Val132=) single nucleotide variant Long QT syndrome [RCV003859783] Chr7:150959648 [GRCh38]
Chr7:150656736 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2517G>A (p.Leu839=) single nucleotide variant Long QT syndrome [RCV003871444] Chr7:150948931 [GRCh38]
Chr7:150646019 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2692+17_2692+31del deletion Long QT syndrome [RCV003868325] Chr7:150948413..150948427 [GRCh38]
Chr7:150645501..150645515 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.30G>C (p.Pro10=) single nucleotide variant Long QT syndrome [RCV003867770] Chr7:150977884 [GRCh38]
Chr7:150674972 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_000238.4(KCNH2):c.3330+17C>T single nucleotide variant Long QT syndrome [RCV003869091] Chr7:150946860 [GRCh38]
Chr7:150643948 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.172G>C (p.Glu58Gln) single nucleotide variant Long QT syndrome [RCV003819429] Chr7:150974846 [GRCh38]
Chr7:150671934 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.2547C>G (p.Ser849=) single nucleotide variant Long QT syndrome [RCV003842426] Chr7:150948901 [GRCh38]
Chr7:150645989 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.910_915del (p.Ser304_Thr305del) deletion Long QT syndrome [RCV003870797] Chr7:150958060..150958065 [GRCh38]
Chr7:150655148..150655153 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000238.4(KCNH2):c.726C>T (p.Arg242=) single nucleotide variant Long QT syndrome [RCV003862584] Chr7:150958249 [GRCh38]
Chr7:150655337 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2730G>C (p.Pro910=) single nucleotide variant Long QT syndrome [RCV003840649] Chr7:150947841 [GRCh38]
Chr7:150644929 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1161G>A (p.Glu387=) single nucleotide variant Long QT syndrome [RCV003848281] Chr7:150952821 [GRCh38]
Chr7:150649909 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.1663T>C (p.Cys555Arg) single nucleotide variant Long QT syndrome 2 [RCV003988816] Chr7:150951730 [GRCh38]
Chr7:150648818 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000238.4(KCNH2):c.2398+278C>T single nucleotide variant KCNH2-related condition [RCV003951998] Chr7:150949890 [GRCh38]
Chr7:150646978 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000238.4(KCNH2):c.2398+23T>G single nucleotide variant KCNH2-related condition [RCV003914177] Chr7:150950145 [GRCh38]
Chr7:150647233 [GRCh37]
Chr7:7q36.1		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR133A2hsa-miR-133aMirecordsexternal_info{unchanged}{unchanged}{unchanged}NA17344217
MIR133Bhsa-miR-133bMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI17344217

Predicted Target Of
Summary Value
Count of predictions:1791
Count of miRNA genes:538
Interacting mature miRNAs:597
Transcripts:ENST00000262186, ENST00000330883, ENST00000392968, ENST00000430723, ENST00000461280, ENST00000473610, ENST00000532957
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
GDB:624527  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,649,484 - 150,649,653UniSTSGRCh37
Build 367150,280,417 - 150,280,586RGDNCBI36
Celera7145,206,513 - 145,206,682RGD
Cytogenetic Map7q36.1UniSTS
HuRef7144,461,768 - 144,461,937UniSTS
CRA_TCAGchr7v27149,978,774 - 149,978,943UniSTS
RH12781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,646,577 - 150,646,737UniSTSGRCh37
Build 367150,277,510 - 150,277,670RGDNCBI36
Celera7145,203,605 - 145,203,765RGD
Cytogenetic Map7q36.1UniSTS
HuRef7144,458,853 - 144,459,013UniSTS
CRA_TCAGchr7v27149,975,866 - 149,976,026UniSTS
GeneMap99-GB4 RH Map7675.22UniSTS
LQT2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,642,086 - 150,642,404UniSTSGRCh37
Build 367150,273,019 - 150,273,337RGDNCBI36
Celera7145,199,114 - 145,199,432RGD
Cytogenetic Map7q36.1UniSTS
HuRef7144,454,362 - 144,454,680UniSTS
CRA_TCAGchr7v27149,971,375 - 149,971,693UniSTS
G20789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,646,538 - 150,646,690UniSTSGRCh37
Build 367150,277,471 - 150,277,623RGDNCBI36
Celera7145,203,566 - 145,203,718RGD
Cytogenetic Map7q36.1UniSTS
HuRef7144,458,814 - 144,458,966UniSTS
CRA_TCAGchr7v27149,975,827 - 149,975,979UniSTS
A006G22  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,646,538 - 150,646,690UniSTSGRCh37
Build 367150,277,471 - 150,277,623RGDNCBI36
Celera7145,203,566 - 145,203,718RGD
Cytogenetic Map7q36.1UniSTS
HuRef7144,458,814 - 144,458,966UniSTS
CRA_TCAGchr7v27149,975,827 - 149,975,979UniSTS
GeneMap99-GB4 RH Map7675.32UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1665 840 313 21 193 22 149 1151 1858 49 896 123 28 69
Low 738 1387 495 187 1182 54 1906 282 1815 218 473 885 139 1 493 1294 1
Below cutoff 27 759 805 328 336 303 2251 752 34 134 69 561 31 678 1424 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AACC02000108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB009071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB044806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF052728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF363636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ512214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ609614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY520838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG683210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM674996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ478289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ890248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS114788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS114790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS124199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS124201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ120124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ120125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ525913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ784808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU218526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ794944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ938021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ227728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF304902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX261933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U04270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262186   ⟹   ENSP00000262186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,944,961 - 150,978,321 (-)Ensembl
RefSeq Acc Id: ENST00000330883   ⟹   ENSP00000328531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,944,961 - 150,955,804 (-)Ensembl
RefSeq Acc Id: ENST00000430723   ⟹   ENSP00000387657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,949,899 - 150,978,100 (-)Ensembl
RefSeq Acc Id: ENST00000461280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,949,423 - 150,955,821 (-)Ensembl
RefSeq Acc Id: ENST00000473610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,949,416 - 150,955,828 (-)Ensembl
RefSeq Acc Id: ENST00000532957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,949,415 - 150,978,136 (-)Ensembl
RefSeq Acc Id: ENST00000683359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,950,680 - 150,951,516 (-)Ensembl
RefSeq Acc Id: ENST00000684116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,951,728 - 150,952,874 (-)Ensembl
RefSeq Acc Id: ENST00000684241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,944,961 - 150,960,876 (-)Ensembl
RefSeq Acc Id: NM_000238   ⟹   NP_000229
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,944,961 - 150,978,321 (-)NCBI
GRCh377150,642,044 - 150,675,402 (-)ENTREZGENE
Build 367150,272,982 - 150,305,947 (-)NCBI Archive
HuRef7144,454,320 - 144,487,268 (-)ENTREZGENE
CHM1_17150,650,401 - 150,683,838 (-)NCBI
T2T-CHM13v2.07152,117,824 - 152,151,201 (-)NCBI
CRA_TCAGchr7v27149,971,333 - 150,004,698 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001204798   ⟹   NP_001191727
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,949,409 - 150,955,804 (-)NCBI
GRCh377150,642,044 - 150,675,402 (-)ENTREZGENE
HuRef7144,454,320 - 144,487,268 (-)ENTREZGENE
CHM1_17150,654,854 - 150,661,275 (-)NCBI
T2T-CHM13v2.07152,122,272 - 152,128,675 (-)NCBI
CRA_TCAGchr7v27149,971,333 - 150,004,698 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001406753   ⟹   NP_001393682
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,944,961 - 150,960,056 (-)NCBI
T2T-CHM13v2.07152,117,824 - 152,132,928 (-)NCBI
RefSeq Acc Id: NM_001406755   ⟹   NP_001393684
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,949,409 - 150,975,041 (-)NCBI
T2T-CHM13v2.07152,122,272 - 152,147,920 (-)NCBI
RefSeq Acc Id: NM_001406756   ⟹   NP_001393685
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,949,409 - 150,960,056 (-)NCBI
T2T-CHM13v2.07152,122,272 - 152,132,928 (-)NCBI
RefSeq Acc Id: NM_001406757   ⟹   NP_001393686
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,949,409 - 150,974,506 (-)NCBI
T2T-CHM13v2.07152,122,272 - 152,147,385 (-)NCBI
RefSeq Acc Id: NM_172056   ⟹   NP_742053
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,949,409 - 150,978,321 (-)NCBI
GRCh377150,642,044 - 150,675,402 (-)ENTREZGENE
Build 367150,277,436 - 150,305,947 (-)NCBI Archive
HuRef7144,454,320 - 144,487,268 (-)ENTREZGENE
CHM1_17150,654,854 - 150,683,838 (-)NCBI
T2T-CHM13v2.07152,122,272 - 152,151,201 (-)NCBI
CRA_TCAGchr7v27149,971,333 - 150,004,698 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_172057   ⟹   NP_742054
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,944,961 - 150,955,804 (-)NCBI
GRCh377150,642,044 - 150,675,402 (-)ENTREZGENE
Build 367150,272,982 - 150,283,848 (-)NCBI Archive
HuRef7144,454,320 - 144,487,268 (-)ENTREZGENE
CHM1_17150,650,401 - 150,661,275 (-)NCBI
T2T-CHM13v2.07152,117,824 - 152,128,675 (-)NCBI
CRA_TCAGchr7v27149,971,333 - 150,004,698 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_176254
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,944,961 - 150,978,321 (-)NCBI
T2T-CHM13v2.07152,117,824 - 152,151,201 (-)NCBI
RefSeq Acc Id: NR_176255
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,944,961 - 150,955,804 (-)NCBI
T2T-CHM13v2.07152,117,824 - 152,128,675 (-)NCBI
RefSeq Acc Id: XM_011516185   ⟹   XP_011514487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,944,961 - 150,974,391 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012195   ⟹   XP_016867684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,944,961 - 150,962,778 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012196   ⟹   XP_016867685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,944,961 - 150,975,041 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420348   ⟹   XP_047276304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,944,961 - 150,976,758 (-)NCBI
RefSeq Acc Id: XM_047420349   ⟹   XP_047276305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,947,424 - 150,976,758 (-)NCBI
RefSeq Acc Id: XM_054358168   ⟹   XP_054214143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,117,824 - 152,149,638 (-)NCBI
RefSeq Acc Id: XM_054358169   ⟹   XP_054214144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,117,824 - 152,135,654 (-)NCBI
RefSeq Acc Id: XM_054358170   ⟹   XP_054214145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,117,824 - 152,147,920 (-)NCBI
RefSeq Acc Id: XM_054358171   ⟹   XP_054214146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,117,824 - 152,147,270 (-)NCBI
RefSeq Acc Id: XM_054358172   ⟹   XP_054214147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,120,287 - 152,149,638 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000229 (Get FASTA)   NCBI Sequence Viewer  
  NP_001191727 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393682 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393684 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393685 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393686 (Get FASTA)   NCBI Sequence Viewer  
  NP_742053 (Get FASTA)   NCBI Sequence Viewer  
  NP_742054 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514487 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867684 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867685 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276304 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276305 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214143 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214144 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214145 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214146 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214147 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA62473 (Get FASTA)   NCBI Sequence Viewer  
  AAC69709 (Get FASTA)   NCBI Sequence Viewer  
  AAH01914 (Get FASTA)   NCBI Sequence Viewer  
  AAH04311 (Get FASTA)   NCBI Sequence Viewer  
  AAI27674 (Get FASTA)   NCBI Sequence Viewer  
  AAL37559 (Get FASTA)   NCBI Sequence Viewer  
  AAP36000 (Get FASTA)   NCBI Sequence Viewer  
  AAQ91589 (Get FASTA)   NCBI Sequence Viewer  
  AAQ91590 (Get FASTA)   NCBI Sequence Viewer  
  AAQ91591 (Get FASTA)   NCBI Sequence Viewer  
  AAQ91592 (Get FASTA)   NCBI Sequence Viewer  
  AAQ91593 (Get FASTA)   NCBI Sequence Viewer  
  AAQ91594 (Get FASTA)   NCBI Sequence Viewer  
  AAQ91595 (Get FASTA)   NCBI Sequence Viewer  
  AAQ91596 (Get FASTA)   NCBI Sequence Viewer  
  AAQ91597 (Get FASTA)   NCBI Sequence Viewer  
  AAQ91598 (Get FASTA)   NCBI Sequence Viewer  
  AAQ91599 (Get FASTA)   NCBI Sequence Viewer  
  AAQ91600 (Get FASTA)   NCBI Sequence Viewer  
  AAQ91601 (Get FASTA)   NCBI Sequence Viewer  
  AAS07566 (Get FASTA)   NCBI Sequence Viewer  
  AAS07567 (Get FASTA)   NCBI Sequence Viewer  
  AAZ40507 (Get FASTA)   NCBI Sequence Viewer  
  AAZ40508 (Get FASTA)   NCBI Sequence Viewer  
  ABF71886 (Get FASTA)   NCBI Sequence Viewer  
  ABQ01243 (Get FASTA)   NCBI Sequence Viewer  
  ABW98495 (Get FASTA)   NCBI Sequence Viewer  
  ACN88550 (Get FASTA)   NCBI Sequence Viewer  
  ACR24650 (Get FASTA)   NCBI Sequence Viewer  
  ACT31321 (Get FASTA)   NCBI Sequence Viewer  
  AEL63844 (Get FASTA)   NCBI Sequence Viewer  
  AFR51950 (Get FASTA)   NCBI Sequence Viewer  
  BAA37096 (Get FASTA)   NCBI Sequence Viewer  
  BAB19682 (Get FASTA)   NCBI Sequence Viewer  
  CAA09232 (Get FASTA)   NCBI Sequence Viewer  
  CAD54447 (Get FASTA)   NCBI Sequence Viewer  
  CAE82156 (Get FASTA)   NCBI Sequence Viewer  
  CAJ13411 (Get FASTA)   NCBI Sequence Viewer  
  CAJ13412 (Get FASTA)   NCBI Sequence Viewer  
  CAJ18800 (Get FASTA)   NCBI Sequence Viewer  
  CAJ18801 (Get FASTA)   NCBI Sequence Viewer  
  EAL24491 (Get FASTA)   NCBI Sequence Viewer  
  EAL24492 (Get FASTA)   NCBI Sequence Viewer  
  EAL24493 (Get FASTA)   NCBI Sequence Viewer  
  EAW54071 (Get FASTA)   NCBI Sequence Viewer  
  EAW54072 (Get FASTA)   NCBI Sequence Viewer  
  EAW54073 (Get FASTA)   NCBI Sequence Viewer  
  EAW54074 (Get FASTA)   NCBI Sequence Viewer  
  EAW54075 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000262186
  ENSP00000262186.5
  ENSP00000328531
  ENSP00000328531.4
GenBank Protein Q12809 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_000229   ⟸   NM_000238
- Peptide Label: isoform a
- UniProtKB: Q9BUT7 (UniProtKB/Swiss-Prot),   Q9BT72 (UniProtKB/Swiss-Prot),   Q708S9 (UniProtKB/Swiss-Prot),   O75680 (UniProtKB/Swiss-Prot),   O75418 (UniProtKB/Swiss-Prot),   D3DX04 (UniProtKB/Swiss-Prot),   C4PFH9 (UniProtKB/Swiss-Prot),   A5H1P7 (UniProtKB/Swiss-Prot),   Q9H3P0 (UniProtKB/Swiss-Prot),   Q12809 (UniProtKB/Swiss-Prot),   A0A090N8Q0 (UniProtKB/TrEMBL),   Q15BH2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_742054   ⟸   NM_172057
- Peptide Label: isoform c
- UniProtKB: A0A090N7X5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_742053   ⟸   NM_172056
- Peptide Label: isoform b
- UniProtKB: A0A090N7W1 (UniProtKB/TrEMBL),   Q86U57 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001191727   ⟸   NM_001204798
- Peptide Label: isoform d
- UniProtKB: Q12809 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011514487   ⟸   XM_011516185
- Peptide Label: isoform X4
- UniProtKB: Q15BH2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867685   ⟸   XM_017012196
- Peptide Label: isoform X3
- UniProtKB: Q15BH2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867684   ⟸   XM_017012195
- Peptide Label: isoform X2
- UniProtKB: Q15BH2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000328531   ⟸   ENST00000330883
RefSeq Acc Id: ENSP00000387657   ⟸   ENST00000430723
RefSeq Acc Id: ENSP00000262186   ⟸   ENST00000262186
RefSeq Acc Id: XP_047276304   ⟸   XM_047420348
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047276305   ⟸   XM_047420349
- Peptide Label: isoform X5
RefSeq Acc Id: NP_001393682   ⟸   NM_001406753
- Peptide Label: isoform e
RefSeq Acc Id: NP_001393684   ⟸   NM_001406755
- Peptide Label: isoform f
RefSeq Acc Id: NP_001393686   ⟸   NM_001406757
- Peptide Label: isoform h
RefSeq Acc Id: NP_001393685   ⟸   NM_001406756
- Peptide Label: isoform g
RefSeq Acc Id: XP_054214143   ⟸   XM_054358168
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214145   ⟸   XM_054358170
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054214146   ⟸   XM_054358171
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054214144   ⟸   XM_054358169
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054214147   ⟸   XM_054358172
- Peptide Label: isoform X5
Protein Domains
Cyclic nucleotide-binding   Ion transport   PAC   PAS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q12809-F1-model_v2 AlphaFold Q12809 1-1159 view protein structure

Promoters
RGD ID:6805834
Promoter ID:HG_KWN:60268
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   NB4
Transcripts:NM_172057,   UC003WID.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367150,283,671 - 150,284,171 (-)MPROMDB
RGD ID:6813199
Promoter ID:HG_ACW:75049
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   Lymphoblastoid,   NB4
Transcripts:KCNH2.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 367150,302,771 - 150,303,392 (-)MPROMDB
RGD ID:6813202
Promoter ID:HG_ACW:75050
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:KCNH2.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 367150,304,716 - 150,305,216 (-)MPROMDB
RGD ID:6805833
Promoter ID:HG_KWN:60269
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   NB4
Transcripts:ENST00000262186,   NM_172056
Position:
Human AssemblyChrPosition (strand)Source
Build 367150,306,416 - 150,307,192 (-)MPROMDB
RGD ID:7212321
Promoter ID:EPDNEW_H11907
Type:initiation region
Name:KCNH2_1
Description:potassium voltage-gated channel subfamily H member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11908  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,955,804 - 150,955,864EPDNEW
RGD ID:7212323
Promoter ID:EPDNEW_H11908
Type:initiation region
Name:KCNH2_2
Description:potassium voltage-gated channel subfamily H member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11907  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,978,321 - 150,978,381EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6251 AgrOrtholog
COSMIC KCNH2 COSMIC
Ensembl Genes ENSG00000055118 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000262186 ENTREZGENE
  ENST00000262186.10 UniProtKB/Swiss-Prot
  ENST00000330883 ENTREZGENE
  ENST00000330883.9 UniProtKB/Swiss-Prot
  ENST00000461280 ENTREZGENE
  ENST00000532957 ENTREZGENE
  ENST00000684241 ENTREZGENE
Gene3D-CATH 1.10.1200.260 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000055118 GTEx
HGNC ID HGNC:6251 ENTREZGENE
Human Proteome Map KCNH2 Human Proteome Map
InterPro cNMP-bd-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  cNMP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_EAG/ELK/ERG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_ERG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS-assoc_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RmlC-like_jellyroll UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3757 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3757 ENTREZGENE
OMIM 152427 OMIM
PANTHER POTASSIUM VOLTAGE-GATED CHANNEL SUBFAMILY H MEMBER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VOLTAGE AND LIGAND GATED POTASSIUM CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam cNMP_binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB KCNH2 RGD, PharmGKB
PRINTS EAGCHANLFMLY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERGCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CNMP_BINDING_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART cNMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51206 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A090N7W1 ENTREZGENE, UniProtKB/TrEMBL
  A0A090N7X5 ENTREZGENE, UniProtKB/TrEMBL
  A0A090N8Q0 ENTREZGENE, UniProtKB/TrEMBL
  A0PJW5_HUMAN UniProtKB/TrEMBL
  A5H1P7 ENTREZGENE
  A8WBZ2_HUMAN UniProtKB/TrEMBL
  C4PFH9 ENTREZGENE
  C7DYB4_HUMAN UniProtKB/TrEMBL
  D3DX04 ENTREZGENE
  J9SM79_HUMAN UniProtKB/TrEMBL
  KCNH2_HUMAN UniProtKB/Swiss-Prot
  O75418 ENTREZGENE
  O75680 ENTREZGENE
  Q12809 ENTREZGENE
  Q15BH2 ENTREZGENE, UniProtKB/TrEMBL
  Q45QN5_HUMAN UniProtKB/TrEMBL
  Q6U279_HUMAN UniProtKB/TrEMBL
  Q6U283_HUMAN UniProtKB/TrEMBL
  Q6U287_HUMAN UniProtKB/TrEMBL
  Q708S9 ENTREZGENE
  Q75MK8_HUMAN UniProtKB/TrEMBL
  Q75MK9_HUMAN UniProtKB/TrEMBL
  Q86U57 ENTREZGENE, UniProtKB/TrEMBL
  Q9BT72 ENTREZGENE
  Q9BUT7 ENTREZGENE
  Q9H3P0 ENTREZGENE
UniProt Secondary A5H1P7 UniProtKB/Swiss-Prot
  C4PFH9 UniProtKB/Swiss-Prot
  D3DX04 UniProtKB/Swiss-Prot
  O75418 UniProtKB/Swiss-Prot
  O75680 UniProtKB/Swiss-Prot
  Q708S9 UniProtKB/Swiss-Prot
  Q9BT72 UniProtKB/Swiss-Prot
  Q9BUT7 UniProtKB/Swiss-Prot
  Q9H3P0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNH2  potassium voltage-gated channel subfamily H member 2  KCNH2  potassium channel, voltage gated eag related subfamily H, member 2  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNH2  potassium channel, voltage gated eag related subfamily H, member 2  KCNH2  potassium voltage-gated channel, subfamily H (eag-related), member 2  Symbol and/or name change 5135510 APPROVED