KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) - Rat Genome Database

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Gene: KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) Homo sapiens
Analyze
Symbol: KCNJ2
Name: potassium inwardly rectifying channel subfamily J member 2
RGD ID: 1352992
HGNC Page HGNC
Description: Exhibits identical protein binding activity; phosphatidylinositol-4,5-bisphosphate binding activity; and voltage-gated potassium channel activity. Involved in several processes, including cardiac muscle cell action potential; potassium ion import across plasma membrane; and protein homotetramerization. Localizes to voltage-gated potassium channel complex. Implicated in Andersen-Tawil syndrome; familial atrial fibrillation; familial periodic paralysis; and short QT syndrome. Biomarker of atrial fibrillation.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATFB9; cardiac inward rectifier potassium channel; HHBIRK1; HHIRK1; hIRK1; inward rectifier K(+) channel Kir2.1; inward rectifier K+ channel KIR2.1; inward rectifier potassium channel 2; IRK-1; IRK1; KIR2.1; LQT7; potassium channel, inwardly rectifying subfamily J member 2; potassium channel, inwardly rectifying subfamily J, member 2; potassium inwardly-rectifying channel, subfamily J, member 2; potassium voltage-gated channel subfamily J member 2; SQT3
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
GRCh38.p13 Ensembl1770,168,673 - 70,180,044 (+)EnsemblGRCh38hg38GRCh38
GRCh381770,169,532 - 70,180,044 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371768,165,673 - 68,176,185 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361765,677,271 - 65,687,780 (+)NCBINCBI36hg18NCBI36
Build 341765,677,270 - 65,687,776NCBI
Celera1764,737,556 - 64,748,065 (+)NCBI
Cytogenetic Map17q24.3NCBI
HuRef1763,551,441 - 63,561,946 (+)NCBIHuRef
CHM1_11768,231,773 - 68,242,282 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
15-acetyldeoxynivalenol  (EXP)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-dichloroaniline  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP)
5-aza-2'-deoxycytidine  (ISO)
acetamide  (ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
atenolol  (EXP)
barium chloride  (ISO)
barium(0)  (EXP,ISO)
belinostat  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
cadmium dichloride  (EXP)
clofibrate  (ISO)
crocidolite asbestos  (EXP)
daunorubicin  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
diuron  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (EXP)
ethyl methanesulfonate  (EXP)
eugenol  (EXP)
formaldehyde  (EXP)
halothane  (ISO)
lipopolysaccharide  (ISO)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
mitoxantrone  (EXP)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nitroprusside  (ISO)
paracetamol  (ISO)
phenethyl caffeate  (ISO)
phenylmercury acetate  (EXP)
potassium atom  (EXP,ISO)
propranolol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sulforaphane  (EXP)
sunitinib  (EXP)
thapsigargin  (EXP)
tribromoethanol  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

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)
neuron-to-neuron signaling pathway via the chemical synapse  (ISO)
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

Human Phenotype
Abnormal EKG  (IAGP)
Antegonial notching of mandible  (IAGP)
Arrhythmia  (IAGP)
Atrial fibrillation  (IAGP)
Atrioventricular block  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bidirectional ventricular ectopy  (IAGP)
Blepharophimosis  (IAGP)
Brachydactyly  (IAGP)
Bradycardia  (IAGP)
Broad forehead  (IAGP)
Bulbous nose  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clinodactyly of the 5th toe  (IAGP)
Delayed eruption of permanent teeth  (IAGP)
Delayed skeletal maturation  (IAGP)
Depression  (IAGP)
Enamel hypoplasia  (IAGP)
Facial asymmetry  (IAGP)
Growth abnormality  (IAGP)
High palate  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypokalemia  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Joint laxity  (IAGP)
Low-set ears  (IAGP)
Malar flattening  (IAGP)
Microcephaly  (IAGP)
Oligodontia  (IAGP)
Palpitations  (IAGP)
Paroxysmal atrial fibrillation  (IAGP)
Periodic hypokalemic paresis  (IAGP)
Persistence of primary teeth  (IAGP)
Preauricular pit  (IAGP)
Prolonged QT interval  (IAGP)
Prominent frontal sinuses  (IAGP)
Prominent U wave  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Short foot  (IAGP)
Short mandibular rami  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short palm  (IAGP)
Short palpebral fissure  (IAGP)
Short phalanx of finger  (IAGP)
Shortened QT interval  (IAGP)
Slender long bone  (IAGP)
Small hand  (IAGP)
Specific learning disability  (IAGP)
Sudden cardiac death  (IAGP)
Supraventricular tachycardia  (IAGP)
Syncope  (IAGP)
Tachycardia  (IAGP)
Thin upper lip vermilion  (IAGP)
Toe syndactyly  (IAGP)
Triangular face  (IAGP)
Ventricular fibrillation  (IAGP)
Ventricular tachycardia  (IAGP)
References

Additional References at PubMed
PMID:7590287   PMID:7680768   PMID:7696590   PMID:7840300   PMID:8821791   PMID:9490857   PMID:9533862   PMID:10479680   PMID:10559219   PMID:10627592   PMID:11181181   PMID:11240146  
PMID:11287009   PMID:11287423   PMID:11371347   PMID:11688996   PMID:11809752   PMID:12032359   PMID:12086641   PMID:12148092   PMID:12163457   PMID:12459783   PMID:12598232   PMID:12923176  
PMID:14500755   PMID:14522976   PMID:15024025   PMID:15084602   PMID:15304517   PMID:15465033   PMID:15618275   PMID:15761194   PMID:15795311   PMID:15831539   PMID:15922306   PMID:15958527  
PMID:16258766   PMID:16373386   PMID:16382105   PMID:16407206   PMID:16419128   PMID:16533896   PMID:16541386   PMID:16571646   PMID:16637659   PMID:16777940   PMID:16831831   PMID:16834334  
PMID:16895905   PMID:17185339   PMID:17210839   PMID:17211524   PMID:17324964   PMID:17341397   PMID:17551083   PMID:17582433   PMID:17619200   PMID:18178799   PMID:18182162   PMID:18216177  
PMID:18391953   PMID:18690034   PMID:18854645   PMID:19002489   PMID:19234473   PMID:19305409   PMID:19608980   PMID:19841300   PMID:19843922   PMID:19913121   PMID:20086079   PMID:20195514  
PMID:20301308   PMID:20301441   PMID:20628086   PMID:20634891   PMID:20676672   PMID:20921230   PMID:21148745   PMID:21281576   PMID:21376013   PMID:21493816   PMID:21501591   PMID:21559361  
PMID:21570948   PMID:21703452   PMID:21756874   PMID:21873635   PMID:21875779   PMID:22186697   PMID:22308236   PMID:22342860   PMID:22399142   PMID:22589293   PMID:22648509   PMID:22863731  
PMID:22880819   PMID:22931594   PMID:22995912   PMID:23041574   PMID:23188060   PMID:23251661   PMID:23277370   PMID:23284291   PMID:23396134   PMID:23440193   PMID:23564459   PMID:23595086  
PMID:23625347   PMID:23640888   PMID:23644778   PMID:23704328   PMID:23756044   PMID:23803013   PMID:23867365   PMID:24023777   PMID:24047492   PMID:24227888   PMID:24383070   PMID:24460807  
PMID:24556932   PMID:24561538   PMID:24794859   PMID:24861851   PMID:24929828   PMID:24952745   PMID:25205110   PMID:25205296   PMID:25727015   PMID:25880778   PMID:25885757   PMID:26390131  
PMID:26663529   PMID:26689595   PMID:26710323   PMID:26786162   PMID:26922543   PMID:26927354   PMID:28008586   PMID:28446610   PMID:28609477   PMID:28660286   PMID:29017447   PMID:29021306  
PMID:29326130   PMID:29549164   PMID:29813186   PMID:30298493   PMID:30304693   PMID:30681175   PMID:31270966   PMID:31391240   PMID:31483760   PMID:32296183   PMID:32328155   PMID:32698687  
PMID:32986966  


Genomics

Comparative Map Data
KCNJ2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1770,168,673 - 70,180,044 (+)EnsemblGRCh38hg38GRCh38
GRCh381770,169,532 - 70,180,044 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371768,165,673 - 68,176,185 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361765,677,271 - 65,687,780 (+)NCBINCBI36hg18NCBI36
Build 341765,677,270 - 65,687,776NCBI
Celera1764,737,556 - 64,748,065 (+)NCBI
Cytogenetic Map17q24.3NCBI
HuRef1763,551,441 - 63,561,946 (+)NCBIHuRef
CHM1_11768,231,773 - 68,242,282 (+)NCBICHM1_1
Kcnj2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911110,956,990 - 110,967,651 (+)NCBIGRCm39mm39
GRCm39 Ensembl11110,956,990 - 110,967,647 (+)Ensembl
GRCm3811111,066,164 - 111,076,825 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11111,066,164 - 111,076,821 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711110,927,478 - 110,938,139 (+)NCBIGRCm37mm9NCBIm37
MGSCv3611110,882,254 - 110,891,741 (+)NCBImm8
Celera11122,816,654 - 122,827,315 (+)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1175.23NCBI
Kcnj2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21096,060,849 - 96,071,401 (+)NCBI
Rnor_6.0 Ensembl1099,437,436 - 99,439,114 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01099,429,337 - 99,442,520 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01099,125,234 - 99,134,077 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410100,574,985 - 100,576,268 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.110100,589,354 - 100,590,638 (+)NCBI
Celera1094,712,069 - 94,713,352 (+)NCBICelera
Cytogenetic Map10q32.1NCBI
Kcnj2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554782,734,795 - 2,745,217 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554782,734,795 - 2,745,217 (-)NCBIChiLan1.0ChiLan1.0
KCNJ2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11769,482,344 - 69,492,838 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1769,487,846 - 69,489,129 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01764,097,908 - 64,112,914 (+)NCBIMhudiblu_PPA_v0panPan3
KCNJ2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1916,468,938 - 16,475,722 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl916,468,938 - 16,475,722 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha917,360,013 - 17,366,796 (+)NCBI
ROS_Cfam_1.0918,122,955 - 18,129,749 (+)NCBI
UMICH_Zoey_3.1917,067,115 - 17,073,888 (+)NCBI
UNSW_CanFamBas_1.0910,461,025 - 10,467,799 (-)NCBI
UU_Cfam_GSD_1.0910,426,806 - 10,433,589 (-)NCBI
Kcnj2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056029,949,176 - 9,968,112 (-)NCBI
SpeTri2.0NW_0049366553,447,026 - 3,459,569 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNJ2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1210,349,409 - 10,362,244 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11210,351,959 - 10,380,631 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
KCNJ2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11651,448,821 - 51,461,801 (-)NCBI
ChlSab1.1 Ensembl1651,452,567 - 51,453,850 (-)Ensembl
Vero_WHO_p1.0NW_02366607722,340,093 - 22,354,971 (-)NCBI
Kcnj2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624801365,393 - 375,802 (+)NCBI

Position Markers
RH98566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371768,175,929 - 68,176,053UniSTSGRCh37
Build 361765,687,524 - 65,687,648RGDNCBI36
Celera1764,747,809 - 64,747,933RGD
Cytogenetic Map17q24.3UniSTS
HuRef1763,561,690 - 63,561,814UniSTS
GeneMap99-GB4 RH Map17448.16UniSTS
KCNJ2_1577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371768,175,574 - 68,176,244UniSTSGRCh37
Build 361765,687,169 - 65,687,839RGDNCBI36
Celera1764,747,454 - 64,748,124RGD
HuRef1763,561,335 - 63,562,005UniSTS
KCNJ2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371768,172,387 - 68,172,461UniSTSGRCh37
Build 361765,683,982 - 65,684,056RGDNCBI36
Celera1764,744,267 - 64,744,341RGD
HuRef1763,558,148 - 63,558,222UniSTS
RH48445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371768,164,992 - 68,165,126UniSTSGRCh37
Build 361765,676,587 - 65,676,721RGDNCBI36
Celera1764,736,872 - 64,737,006RGD
Cytogenetic Map17q24.3UniSTS
HuRef1763,550,757 - 63,550,891UniSTS
GeneMap99-GB4 RH Map17448.47UniSTS
NCBI RH Map17714.0UniSTS
UniSTS:482479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371768,171,140 - 68,172,561UniSTSGRCh37
Celera1764,743,020 - 64,744,441UniSTS
HuRef1763,556,901 - 63,558,322UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR212hsa-miR-212-3pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assay//qRT-PCRFunctional MTI22880819
MIR1-1hsa-miR-1Mirtarbaseexternal_infoLuciferase reporter assay//Reporter assay;OtherFunctional MTI17401374
MIR1-1hsa-miR-1Mirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19775284
MIR1-1hsa-miR-1Tarbaseexternal_infoReporter GenePOSITIVE
MIR1-1hsa-miR-1Mirecordsexternal_infoNANA17401374

Predicted Target Of
Summary Value
Count of predictions:1656
Count of miRNA genes:871
Interacting mature miRNAs:1049
Transcripts:ENST00000243457, ENST00000535240
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


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 23 391 28 5 455 5 16 59 105 41 36 63 2 10 1
Low 2199 1961 1314 384 869 225 3853 2067 3357 271 1025 1409 168 1187 2410 3
Below cutoff 176 631 370 224 262 226 483 57 253 95 379 80 5 1 15 367

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000243457   ⟹   ENSP00000243457
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1770,169,532 - 70,180,044 (+)Ensembl
RefSeq Acc Id: ENST00000535240   ⟹   ENSP00000441848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1770,168,673 - 70,176,323 (+)Ensembl
RefSeq Acc Id: NM_000891   ⟹   NP_000882
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381770,169,532 - 70,180,044 (+)NCBI
GRCh371768,164,757 - 68,176,189 (+)NCBI
Build 361765,677,271 - 65,687,780 (+)NCBI Archive
HuRef1763,551,441 - 63,561,946 (+)ENTREZGENE
CHM1_11768,231,773 - 68,242,282 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000882   ⟸   NM_000891
- UniProtKB: P63252 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000243457   ⟸   ENST00000243457
RefSeq Acc Id: ENSP00000441848   ⟸   ENST00000535240

Promoters
RGD ID:6794238
Promoter ID:HG_KWN:26983
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:NM_000891
Position:
Human AssemblyChrPosition (strand)Source
Build 361765,676,941 - 65,677,441 (+)MPROMDB
RGD ID:7236157
Promoter ID:EPDNEW_H23824
Type:initiation region
Name:KCNJ2_2
Description:potassium voltage-gated channel subfamily J member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23825  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381770,168,613 - 70,168,673EPDNEW
RGD ID:7236159
Promoter ID:EPDNEW_H23825
Type:multiple initiation site
Name:KCNJ2_1
Description:potassium voltage-gated channel subfamily J member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23824  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381770,169,539 - 70,169,599EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000891.2(KCNJ2):c.410T>A (p.Ile137Asn) single nucleotide variant Andersen Tawil syndrome [RCV000545299] Chr17:70175449 [GRCh38]
Chr17:68171590 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.578T>A (p.Leu193His) single nucleotide variant Andersen Tawil syndrome [RCV000807719]|not specified [RCV000518683] Chr17:70175617 [GRCh38]
Chr17:68171758 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.715G>T (p.Glu239Ter) single nucleotide variant Andersen Tawil syndrome [RCV000550694]|Andersen Tawil syndrome [RCV001389262] Chr17:70175754 [GRCh38]
Chr17:68171895 [GRCh37]
Chr17:17q24.3
pathogenic
KCNJ2, 12-BP DEL, NT513 deletion Andersen Tawil syndrome [RCV000009476] Chr17:17q23.1-q24.2 pathogenic
KCNJ2, 6-BP DEL, NT1167 deletion Andersen Tawil syndrome [RCV000009477] Chr17:17q23.1-q24.2 pathogenic
NM_000891.2(KCNJ2):c.1200G>A (p.Thr400=) single nucleotide variant Andersen Tawil syndrome [RCV001089424]|Cardiovascular phenotype [RCV000619940]|not provided [RCV000552466]|not specified [RCV001000623] Chr17:70176239 [GRCh38]
Chr17:68172380 [GRCh37]
Chr17:17q24.3
benign|likely benign
NM_000891.2(KCNJ2):c.845T>G (p.Leu282Trp) single nucleotide variant Andersen Tawil syndrome [RCV000559682]|Andersen Tawil syndrome [RCV001124495]|Atrial fibrillation, familial, 9 [RCV001125503]|Short QT syndrome 3 [RCV001124496] Chr17:70175884 [GRCh38]
Chr17:68172025 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.984T>C (p.Pro328=) single nucleotide variant Andersen Tawil syndrome [RCV001088072]|not provided [RCV000548204] Chr17:70176023 [GRCh38]
Chr17:68172164 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.324G>A (p.Leu108=) single nucleotide variant Andersen Tawil syndrome [RCV000552245] Chr17:70175363 [GRCh38]
Chr17:68171504 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.529G>A (p.Gly177Ser) single nucleotide variant not provided [RCV000520397] Chr17:70175568 [GRCh38]
Chr17:68171709 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.261C>T (p.Ile87=) single nucleotide variant Andersen Tawil syndrome [RCV000644785]|not provided [RCV000520511] Chr17:70175300 [GRCh38]
Chr17:68171441 [GRCh37]
Chr17:17q24.3
likely benign|uncertain significance
NM_000891.2(KCNJ2):c.668T>G (p.Val223Gly) single nucleotide variant Andersen Tawil syndrome [RCV000547269] Chr17:70175707 [GRCh38]
Chr17:68171848 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.161G>T (p.Cys54Phe) single nucleotide variant Andersen Tawil syndrome [RCV000023027]|Familial periodic paralysis [RCV000058293] Chr17:70175200 [GRCh38]
Chr17:68171341 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.913A>C (p.Thr305Pro) single nucleotide variant Andersen Tawil syndrome [RCV000023028]|Congenital long QT syndrome [RCV000058335] Chr17:70175952 [GRCh38]
Chr17:68172093 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.277G>A (p.Val93Ile) single nucleotide variant Andersen Tawil syndrome [RCV000544361]|Andersen Tawil syndrome [RCV001127504]|Atrial fibrillation [RCV000148540]|Atrial fibrillation, familial, 9 [RCV000023029]|Short QT syndrome 3 [RCV001127505]|not provided [RCV000170978] Chr17:70175316 [GRCh38]
Chr17:68171457 [GRCh37]
Chr17:17q24.3
pathogenic|likely pathogenic|benign|uncertain significance|not provided
NM_000891.2(KCNJ2):c.212A>T (p.Asp71Val) single nucleotide variant Andersen Tawil syndrome [RCV000009473]|Congenital long QT syndrome [RCV000058298] Chr17:70175251 [GRCh38]
Chr17:68171392 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.652C>T (p.Arg218Trp) single nucleotide variant Andersen Tawil syndrome [RCV000009474]|Andersen Tawil syndrome [RCV000684775]|Congenital long QT syndrome [RCV000058326]|not provided [RCV000170982] Chr17:70175691 [GRCh38]
Chr17:68171832 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.899G>T (p.Gly300Val) single nucleotide variant Andersen Tawil syndrome [RCV000009475]|Congenital long QT syndrome [RCV000058332]|not provided [RCV000170987] Chr17:70175938 [GRCh38]
Chr17:68172079 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.199C>T (p.Arg67Trp) single nucleotide variant Andersen Tawil syndrome [RCV000009478]|Andersen Tawil syndrome [RCV000763415]|Andersen Tawil syndrome [RCV000814909]|Congenital long QT syndrome [RCV000058294]|not provided [RCV000170971]|not specified [RCV001000954] Chr17:70175238 [GRCh38]
Chr17:68171379 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.557C>T (p.Pro186Leu) single nucleotide variant Andersen Tawil syndrome [RCV000009479]|Congenital long QT syndrome [RCV000058319] Chr17:70175596 [GRCh38]
Chr17:68171737 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.904G>A (p.Val302Met) single nucleotide variant Andersen Tawil syndrome [RCV000009480]|Congenital long QT syndrome [RCV000058333] Chr17:70175943 [GRCh38]
Chr17:68172084 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.646A>C (p.Asn216His) single nucleotide variant Andersen Tawil syndrome [RCV000009481]|Congenital long QT syndrome [RCV000058324] Chr17:70175685 [GRCh38]
Chr17:68171826 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.514G>A (p.Asp172Asn) single nucleotide variant Andersen Tawil syndrome [RCV001384722]|Short QT syndrome 3 [RCV000009482]|short QT syndrome [RCV000058318] Chr17:70175553 [GRCh38]
Chr17:68171694 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.224C>G (p.Thr75Arg) single nucleotide variant Andersen Tawil syndrome [RCV000009483]|Congenital long QT syndrome [RCV000058301] Chr17:70175263 [GRCh38]
Chr17:68171404 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.660C>T (p.Ser220=) single nucleotide variant Andersen Tawil syndrome [RCV000261798]|Andersen Tawil syndrome [RCV000475693]|Atrial fibrillation, familial, 9 [RCV000376216]|Cardiac arrhythmia [RCV000030106]|Cardiovascular phenotype [RCV000249648]|Short QT syndrome 3 [RCV000319269]|not specified [RCV000245366] Chr17:70175699 [GRCh38]
Chr17:68171840 [GRCh37]
Chr17:17q24.3
benign
GRCh38/hg38 17q24.3(chr17:69766783-71154921)x1 copy number loss See cases [RCV000051104] Chr17:69766783..71154921 [GRCh38]
Chr17:67762924..69151062 [GRCh37]
Chr17:65274519..66662657 [NCBI36]
Chr17:17q24.3
uncertain significance
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q24.3(chr17:70093968-70709796)x3 copy number gain See cases [RCV000054046] Chr17:70093968..70709796 [GRCh38]
Chr17:68090109..68705937 [GRCh37]
Chr17:65601704..66217532 [NCBI36]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.1051C>T (p.Pro351Ser) single nucleotide variant Congenital long QT syndrome [RCV000058291] Chr17:70176090 [GRCh38]
Chr17:68172231 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.1265G>T (p.Arg422Leu) single nucleotide variant Congenital long QT syndrome [RCV000058292] Chr17:70176304 [GRCh38]
Chr17:68172445 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.200G>A (p.Arg67Gln) single nucleotide variant Andersen Tawil syndrome [RCV001218636]|Congenital long QT syndrome [RCV000058295]|not provided [RCV000170972]|not specified [RCV000678807] Chr17:70175239 [GRCh38]
Chr17:68171380 [GRCh37]
Chr17:17q24.3
pathogenic|likely pathogenic|not provided
NM_000891.2(KCNJ2):c.202T>G (p.Tyr68Asp) single nucleotide variant Congenital long QT syndrome [RCV000058296] Chr17:70175241 [GRCh38]
Chr17:68171382 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.211G>A (p.Asp71Asn) single nucleotide variant Congenital long QT syndrome [RCV000058297]|not provided [RCV000413768] Chr17:70175250 [GRCh38]
Chr17:68171391 [GRCh37]
Chr17:17q24.3
pathogenic|likely pathogenic|not provided
NM_000891.2(KCNJ2):c.220A>G (p.Thr74Ala) single nucleotide variant Congenital long QT syndrome [RCV000058299] Chr17:70175259 [GRCh38]
Chr17:68171400 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.223A>G (p.Thr75Ala) single nucleotide variant Congenital long QT syndrome [RCV000058300] Chr17:70175262 [GRCh38]
Chr17:68171403 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.224C>T (p.Thr75Met) single nucleotide variant Andersen Tawil syndrome [RCV000644783]|Congenital long QT syndrome [RCV000058302]|not provided [RCV000170993] Chr17:70175263 [GRCh38]
Chr17:68171404 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.232G>T (p.Asp78Tyr) single nucleotide variant Andersen Tawil syndrome [RCV001246254]|Congenital long QT syndrome [RCV000058303] Chr17:70175271 [GRCh38]
Chr17:68171412 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.233A>G (p.Asp78Gly) single nucleotide variant Andersen Tawil syndrome [RCV000157272]|Congenital long QT syndrome [RCV000058304] Chr17:70175272 [GRCh38]
Chr17:68171413 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.244C>T (p.Arg82Trp) single nucleotide variant Andersen Tawil syndrome [RCV000535797]|Andersen Tawil syndrome [RCV001258373]|Supraventricular tachycardia [RCV000678808]|Ventricular tachycardia [RCV000058305] Chr17:70175283 [GRCh38]
Chr17:68171424 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.245G>A (p.Arg82Gln) single nucleotide variant Andersen Tawil syndrome [RCV000466653]|Andersen Tawil syndrome [RCV000791354]|Cardiovascular phenotype [RCV000619060]|Congenital long QT syndrome [RCV000058306] Chr17:70175284 [GRCh38]
Chr17:68171425 [GRCh37]
Chr17:17q24.3
pathogenic|likely pathogenic|not provided
NM_000891.2(KCNJ2):c.301T>C (p.Cys101Arg) single nucleotide variant Ventricular tachycardia [RCV000058308] Chr17:70175340 [GRCh38]
Chr17:68171481 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.368T>G (p.Val123Gly) single nucleotide variant Congenital long QT syndrome [RCV000058309] Chr17:70175407 [GRCh38]
Chr17:68171548 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.407C>T (p.Ser136Phe) single nucleotide variant Congenital long QT syndrome [RCV000058310] Chr17:70175446 [GRCh38]
Chr17:68171587 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.430G>A (p.Gly144Ser) single nucleotide variant Andersen Tawil syndrome [RCV001382882]|Congenital long QT syndrome [RCV000058311] Chr17:70175469 [GRCh38]
Chr17:68171610 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.431G>A (p.Gly144Asp) single nucleotide variant Andersen Tawil syndrome [RCV000644780]|Congenital long QT syndrome [RCV000058312] Chr17:70175470 [GRCh38]
Chr17:68171611 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.431G>C (p.Gly144Ala) single nucleotide variant Andersen Tawil syndrome [RCV001057585]|Congenital long QT syndrome [RCV000058313] Chr17:70175470 [GRCh38]
Chr17:68171611 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.436G>A (p.Gly146Ser) single nucleotide variant Congenital long QT syndrome [RCV000058314] Chr17:70175475 [GRCh38]
Chr17:68171616 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.437G>A (p.Gly146Asp) single nucleotide variant Andersen Tawil syndrome [RCV001318012]|Congenital long QT syndrome [RCV000058315] Chr17:70175476 [GRCh38]
Chr17:68171617 [GRCh37]
Chr17:17q24.3
pathogenic|uncertain significance|not provided
NM_000891.2(KCNJ2):c.437G>C (p.Gly146Ala) single nucleotide variant Congenital long QT syndrome [RCV000058316] Chr17:70175476 [GRCh38]
Chr17:68171617 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.461G>T (p.Cys154Phe) single nucleotide variant Congenital long QT syndrome [RCV000058317] Chr17:70175500 [GRCh38]
Chr17:68171641 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.566G>T (p.Arg189Ile) single nucleotide variant Congenital long QT syndrome [RCV000058320]|not provided [RCV000170981] Chr17:70175605 [GRCh38]
Chr17:68171746 [GRCh37]
Chr17:17q24.3
pathogenic|likely pathogenic|not provided
NM_000891.2(KCNJ2):c.574A>G (p.Thr192Ala) single nucleotide variant Andersen Tawil syndrome [RCV001258374]|Congenital long QT syndrome [RCV000058321] Chr17:70175613 [GRCh38]
Chr17:68171754 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.575C>T (p.Thr192Ile) single nucleotide variant Congenital long QT syndrome [RCV000058322] Chr17:70175614 [GRCh38]
Chr17:68171755 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.644G>A (p.Gly215Asp) single nucleotide variant Andersen Tawil syndrome [RCV000458761]|Andersen Tawil syndrome [RCV001388390]|Congenital long QT syndrome [RCV000058323] Chr17:70175683 [GRCh38]
Chr17:68171824 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.650T>C (p.Leu217Pro) single nucleotide variant Congenital long QT syndrome [RCV000058325] Chr17:70175689 [GRCh38]
Chr17:68171830 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.653G>A (p.Arg218Gln) single nucleotide variant Andersen Tawil syndrome [RCV000157273]|Andersen Tawil syndrome [RCV000791452]|Congenital long QT syndrome [RCV000058327]|not provided [RCV000255682] Chr17:70175692 [GRCh38]
Chr17:68171833 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.679G>T (p.Val227Phe) single nucleotide variant Ventricular tachycardia [RCV000058328] Chr17:70175718 [GRCh38]
Chr17:68171859 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.779G>C (p.Arg260Pro) single nucleotide variant Congenital long QT syndrome [RCV000058329]|not provided [RCV000170984] Chr17:70175818 [GRCh38]
Chr17:68171959 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.899G>A (p.Gly300Asp) single nucleotide variant Andersen Tawil syndrome [RCV000194837]|Congenital long QT syndrome [RCV000058330]|not provided [RCV001268135] Chr17:70175938 [GRCh38]
Chr17:68172079 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.899G>C (p.Gly300Ala) single nucleotide variant Congenital long QT syndrome [RCV000058331] Chr17:70175938 [GRCh38]
Chr17:68172079 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.907G>A (p.Glu303Lys) single nucleotide variant Congenital long QT syndrome [RCV000058334] Chr17:70175946 [GRCh38]
Chr17:68172087 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.913A>G (p.Thr305Ala) single nucleotide variant Andersen Tawil syndrome [RCV000678809]|Andersen Tawil syndrome [RCV001068766]|Arrhythmia [RCV000058336] Chr17:70175952 [GRCh38]
Chr17:68172093 [GRCh37]
Chr17:17q24.3
pathogenic|likely pathogenic|not provided
NM_000891.2(KCNJ2):c.921G>A (p.Met307Ile) single nucleotide variant Congenital long QT syndrome [RCV000058337] Chr17:70175960 [GRCh38]
Chr17:68172101 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.926C>T (p.Thr309Ile) single nucleotide variant Congenital long QT syndrome [RCV000058338] Chr17:70175965 [GRCh38]
Chr17:68172106 [GRCh37]
Chr17:17q24.3
pathogenic|not provided
NM_000891.2(KCNJ2):c.934C>T (p.Arg312Cys) single nucleotide variant Andersen Tawil syndrome [RCV001055449]|Congenital long QT syndrome [RCV000058339]|not provided [RCV000443262] Chr17:70175973 [GRCh38]
Chr17:68172114 [GRCh37]
Chr17:17q24.3
pathogenic|likely pathogenic|not provided
NM_000891.2(KCNJ2):c.1080C>T (p.Asp360=) single nucleotide variant Andersen Tawil syndrome [RCV000866679]|not specified [RCV000170967] Chr17:70176119 [GRCh38]
Chr17:68172260 [GRCh37]
Chr17:17q24.3
benign|likely benign
NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser) single nucleotide variant Andersen Tawil syndrome [RCV000289555]|Andersen Tawil syndrome [RCV001083244]|Atrial fibrillation, familial, 9 [RCV000346966]|Cardiovascular phenotype [RCV000618240]|Short QT syndrome 3 [RCV000385149]|not provided [RCV000755556]|not specified [RCV000170968] Chr17:70176268 [GRCh38]
Chr17:68172409 [GRCh37]
Chr17:17q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000891.2(KCNJ2):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV000170969] Chr17:70175041 [GRCh38]
Chr17:68171182 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.118C>T (p.Arg40Ter) single nucleotide variant not provided [RCV000170970] Chr17:70175157 [GRCh38]
Chr17:68171298 [GRCh37]
Chr17:17q24.3
pathogenic|uncertain significance
NM_000891.2(KCNJ2):c.208G>A (p.Ala70Thr) single nucleotide variant not specified [RCV000170973] Chr17:70175247 [GRCh38]
Chr17:68171388 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.226T>G (p.Cys76Gly) single nucleotide variant Andersen Tawil syndrome [RCV000471851]|not provided [RCV000170974] Chr17:70175265 [GRCh38]
Chr17:68171406 [GRCh37]
Chr17:17q24.3
likely pathogenic|uncertain significance
NM_000891.2(KCNJ2):c.236T>C (p.Ile79Thr) single nucleotide variant not provided [RCV000170975] Chr17:70175275 [GRCh38]
Chr17:68171416 [GRCh37]
Chr17:17q24.3
likely pathogenic
NM_000891.2(KCNJ2):c.256G>T (p.Val86Phe) single nucleotide variant not provided [RCV000170977] Chr17:70175295 [GRCh38]
Chr17:68171436 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.328C>T (p.His110Tyr) single nucleotide variant not provided [RCV000170979] Chr17:70175367 [GRCh38]
Chr17:68171508 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.566G>A (p.Arg189Lys) single nucleotide variant not provided [RCV000170980] Chr17:70175605 [GRCh38]
Chr17:68171746 [GRCh37]
Chr17:17q24.3
likely pathogenic
NM_000891.2(KCNJ2):c.653G>T (p.Arg218Leu) single nucleotide variant Andersen Tawil syndrome [RCV000470921]|not provided [RCV000170983] Chr17:70175692 [GRCh38]
Chr17:68171833 [GRCh37]
Chr17:17q24.3
pathogenic|uncertain significance
NM_000891.2(KCNJ2):c.821A>T (p.Asp274Val) single nucleotide variant not provided [RCV000170985] Chr17:70175860 [GRCh38]
Chr17:68172001 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.896A>T (p.Glu299Val) single nucleotide variant not provided [RCV000170986] Chr17:70175935 [GRCh38]
Chr17:68172076 [GRCh37]
Chr17:17q24.3
likely pathogenic
NM_000891.2(KCNJ2):c.901A>G (p.Met301Val) single nucleotide variant Andersen Tawil syndrome [RCV000702725]|not provided [RCV000170988] Chr17:70175940 [GRCh38]
Chr17:68172081 [GRCh37]
Chr17:17q24.3
pathogenic|uncertain significance
NM_000891.2(KCNJ2):c.976T>A (p.Tyr326Asn) single nucleotide variant not provided [RCV000170989] Chr17:70176015 [GRCh38]
Chr17:68172156 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.1045G>A (p.Glu349Lys) single nucleotide variant Andersen Tawil syndrome [RCV000689013]|not provided [RCV000170990] Chr17:70176084 [GRCh38]
Chr17:68172225 [GRCh37]
Chr17:17q24.3
likely pathogenic|uncertain significance
NM_000891.2(KCNJ2):c.1244C>T (p.Pro415Leu) single nucleotide variant Andersen Tawil syndrome [RCV001067159]|not provided [RCV000757418] Chr17:70176283 [GRCh38]
Chr17:68172424 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.935G>A (p.Arg312His) single nucleotide variant Andersen Tawil syndrome [RCV000644779]|not provided [RCV000170994] Chr17:70175974 [GRCh38]
Chr17:68172115 [GRCh37]
Chr17:17q24.3
pathogenic|uncertain significance
NM_000891.2(KCNJ2):c.973C>T (p.Arg325Cys) single nucleotide variant Andersen Tawil syndrome [RCV000496264]|Andersen Tawil syndrome [RCV000816436]|Ventricular fibrillation [RCV000208475]|not provided [RCV000170995] Chr17:70176012 [GRCh38]
Chr17:68172153 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.394_396dup (p.Ala132dup) duplication not provided [RCV000170996] Chr17:70175432..70175433 [GRCh38]
Chr17:68171573..68171574 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.916_918del (p.Ala306del) deletion not specified [RCV000624355] Chr17:70175955..70175957 [GRCh38]
Chr17:68172096..68172098 [GRCh37]
Chr17:17q24.3
likely pathogenic|uncertain significance
NM_000891.2(KCNJ2):c.174C>T (p.Phe58=) single nucleotide variant Andersen Tawil syndrome [RCV001079027]|Cardiovascular phenotype [RCV000241966]|not provided [RCV000589786]|not specified [RCV000126414] Chr17:70175213 [GRCh38]
Chr17:68171354 [GRCh37]
Chr17:17q24.3
benign|likely benign
NM_000891.2(KCNJ2):c.372C>T (p.Ser124=) single nucleotide variant Andersen Tawil syndrome [RCV000463819]|not specified [RCV000126415] Chr17:70175411 [GRCh38]
Chr17:68171552 [GRCh37]
Chr17:17q24.3
benign
NM_000891.2(KCNJ2):c.773T>C (p.Ile258Thr) single nucleotide variant not specified [RCV000126416] Chr17:70175812 [GRCh38]
Chr17:68171953 [GRCh37]
Chr17:17q24.3
benign
NM_000891.2(KCNJ2):c.1035C>T (p.His345=) single nucleotide variant Andersen Tawil syndrome [RCV000195587]|not specified [RCV000126417] Chr17:70176074 [GRCh38]
Chr17:68172215 [GRCh37]
Chr17:17q24.3
benign
NM_000891.2(KCNJ2):c.1065T>G (p.Leu355=) single nucleotide variant Andersen Tawil syndrome [RCV000862113]|Cardiovascular phenotype [RCV000253689]|not specified [RCV000126418] Chr17:70176104 [GRCh38]
Chr17:68172245 [GRCh37]
Chr17:17q24.3
benign|likely benign
NM_000891.2(KCNJ2):c.1146C>T (p.Leu382=) single nucleotide variant Andersen Tawil syndrome [RCV000381568]|Andersen Tawil syndrome [RCV000860209]|Atrial fibrillation, familial, 9 [RCV000324788]|Cardiovascular phenotype [RCV000245055]|Short QT syndrome 3 [RCV000267274]|none provided [RCV001282791]|not specified [RCV000126419] Chr17:70176185 [GRCh38]
Chr17:68172326 [GRCh37]
Chr17:17q24.3
benign
NM_000891.2(KCNJ2):c.*18T>C single nucleotide variant Cardiac arrhythmia [RCV000126420]|not specified [RCV000126420] Chr17:70176341 [GRCh38]
Chr17:68172482 [GRCh37]
Chr17:17q24.3
benign
NM_000891.2(KCNJ2):c.953A>G (p.Asn318Ser) single nucleotide variant Andersen Tawil syndrome [RCV000148541]|Andersen Tawil syndrome [RCV000796348] Chr17:70175992 [GRCh38]
Chr17:68172133 [GRCh37]
Chr17:17q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000891.2(KCNJ2):c.1199C>T (p.Thr400Met) single nucleotide variant Cardiovascular phenotype [RCV000621624]|Long QT syndrome [RCV000148542]|not provided [RCV000170991] Chr17:70176238 [GRCh38]
Chr17:68172379 [GRCh37]
Chr17:17q24.3
likely pathogenic|uncertain significance
NM_000891.3(KCNJ2):c.481G>A (p.Val161Met) single nucleotide variant Andersen Tawil syndrome [RCV001303009] Chr17:70175520 [GRCh38]
Chr17:68171661 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.884T>C (p.Val295Ala) single nucleotide variant not provided [RCV000171667] Chr17:70175923 [GRCh38]
Chr17:68172064 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.1217T>C (p.Ile406Thr) single nucleotide variant not provided [RCV000171668] Chr17:70176256 [GRCh38]
Chr17:68172397 [GRCh37]
Chr17:17q24.3
uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
GRCh38/hg38 17q24.3(chr17:70089117-71111424)x3 copy number gain See cases [RCV000141126] Chr17:70089117..71111424 [GRCh38]
Chr17:68085258..69107565 [GRCh37]
Chr17:65596853..66619160 [NCBI36]
Chr17:17q24.3
likely benign|uncertain significance
GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1 copy number loss See cases [RCV000143113] Chr17:68420514..71351235 [GRCh38]
Chr17:66416655..69347376 [GRCh37]
Chr17:63928250..66858971 [NCBI36]
Chr17:17q24.2-24.3
pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
NM_000891.2(KCNJ2):c.1215C>T (p.Asp405=) single nucleotide variant not provided [RCV000198320] Chr17:70176254 [GRCh38]
Chr17:68172395 [GRCh37]
Chr17:17q24.3
likely pathogenic|likely benign
NM_000891.2(KCNJ2):c.966G>C (p.Trp322Cys) single nucleotide variant Andersen Tawil syndrome [RCV000193904] Chr17:70176005 [GRCh38]
Chr17:68172146 [GRCh37]
Chr17:17q24.3
pathogenic
NM_000891.2(KCNJ2):c.271_282del (p.Ala91_Leu94del) deletion Andersen Tawil syndrome [RCV000192428] Chr17:70175306..70175317 [GRCh38]
Chr17:68171447..68171458 [GRCh37]
Chr17:17q24.3
pathogenic
NM_000891.2(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe) indel Andersen Tawil syndrome [RCV000206325]|Andersen Tawil syndrome [RCV001379062] Chr17:70175446..70175448 [GRCh38]
Chr17:68171587..68171589 [GRCh37]
Chr17:17q24.3
likely pathogenic
NM_000891.2(KCNJ2):c.1268G>A (p.Arg423Gln) single nucleotide variant Andersen Tawil syndrome [RCV001058883]|Long QT syndrome [RCV000208186] Chr17:70176307 [GRCh38]
Chr17:68172448 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.211G>C (p.Asp71His) single nucleotide variant Andersen Tawil syndrome [RCV000208360]|Andersen Tawil syndrome [RCV001067168] Chr17:70175250 [GRCh38]
Chr17:68171391 [GRCh37]
Chr17:17q24.3
likely pathogenic|uncertain significance
NM_000891.2(KCNJ2):c.388A>G (p.Thr130Ala) single nucleotide variant Andersen Tawil syndrome [RCV000515675] Chr17:70175427 [GRCh38]
Chr17:68171568 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.902T>G (p.Met301Arg) single nucleotide variant not provided [RCV000221740] Chr17:70175941 [GRCh38]
Chr17:68172082 [GRCh37]
Chr17:17q24.3
pathogenic
NM_000891.2(KCNJ2):c.750C>A (p.Ile250=) single nucleotide variant Cardiovascular phenotype [RCV000246186] Chr17:70175789 [GRCh38]
Chr17:68171930 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.1259C>T (p.Pro420Leu) single nucleotide variant Andersen Tawil syndrome [RCV000350551]|Andersen Tawil syndrome [RCV000864113]|Cardiovascular phenotype [RCV000248675]|Familial atrial fibrillation [RCV000407751]|short QT syndrome [RCV000293237] Chr17:70176298 [GRCh38]
Chr17:68172439 [GRCh37]
Chr17:17q24.3
likely benign|uncertain significance
NM_000891.2(KCNJ2):c.213C>T (p.Asp71=) single nucleotide variant Andersen Tawil syndrome [RCV000862112]|Cardiovascular phenotype [RCV000248933]|not specified [RCV000426232] Chr17:70175252 [GRCh38]
Chr17:68171393 [GRCh37]
Chr17:17q24.3
benign|likely benign
NM_000891.2(KCNJ2):c.*1794C>A single nucleotide variant Andersen Tawil syndrome [RCV000300416]|Atrial fibrillation, familial, 9 [RCV000355434]|Short QT syndrome 3 [RCV000406949] Chr17:70178117 [GRCh38]
Chr17:68174258 [GRCh37]
Chr17:17q24.3
likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*3025G>A single nucleotide variant Andersen Tawil syndrome [RCV000300900]|Atrial fibrillation, familial, 9 [RCV000406878]|Short QT syndrome 3 [RCV000353448] Chr17:70179348 [GRCh38]
Chr17:68175489 [GRCh37]
Chr17:17q24.3
likely benign|uncertain significance
NM_000891.2(KCNJ2):c.-349C>A single nucleotide variant Andersen Tawil syndrome [RCV000336432]|Atrial fibrillation, familial, 9 [RCV000282434]|Short QT syndrome 3 [RCV000392632] Chr17:70169569 [GRCh38]
Chr17:68165710 [GRCh37]
Chr17:17q24.3
benign|uncertain significance
NM_000891.2(KCNJ2):c.*1367T>C single nucleotide variant Andersen Tawil syndrome [RCV000268009]|Atrial fibrillation, familial, 9 [RCV000308040]|Short QT syndrome 3 [RCV000362694] Chr17:70177690 [GRCh38]
Chr17:68173831 [GRCh37]
Chr17:17q24.3
likely benign|uncertain significance
NM_000891.2(KCNJ2):c.-2C>T single nucleotide variant Andersen Tawil syndrome [RCV000286728]|Atrial fibrillation, familial, 9 [RCV000380135]|Cardiovascular phenotype [RCV000617614]|Short QT syndrome 3 [RCV000344021]|not specified [RCV000437119] Chr17:70175038 [GRCh38]
Chr17:68171179 [GRCh37]
Chr17:17q24.3
benign|likely benign
NM_000891.2(KCNJ2):c.*2875_*2876del deletion Andersen Tawil syndrome [RCV000289264]|Familial atrial fibrillation [RCV000341962]|short QT syndrome [RCV000381414] Chr17:70179198..70179199 [GRCh38]
Chr17:68175339..68175340 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*1720_*1721dup duplication Andersen Tawil syndrome [RCV000289521]|Familial atrial fibrillation [RCV000383887]|short QT syndrome [RCV000344540] Chr17:70178027..70178028 [GRCh38]
Chr17:68174168..68174169 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*624G>A single nucleotide variant Andersen Tawil syndrome [RCV000273650]|Atrial fibrillation, familial, 9 [RCV000331195]|Short QT syndrome 3 [RCV000365941] Chr17:70176947 [GRCh38]
Chr17:68173088 [GRCh37]
Chr17:17q24.3
benign
NM_000891.2(KCNJ2):c.*211T>C single nucleotide variant Andersen Tawil syndrome [RCV000385476]|Atrial fibrillation, familial, 9 [RCV000293517]|Short QT syndrome 3 [RCV000328633] Chr17:70176534 [GRCh38]
Chr17:68172675 [GRCh37]
Chr17:17q24.3
benign|uncertain significance
NM_000891.2(KCNJ2):c.*1251C>T single nucleotide variant Andersen Tawil syndrome [RCV000391864]|Atrial fibrillation, familial, 9 [RCV000293599]|Short QT syndrome 3 [RCV000350723] Chr17:70177574 [GRCh38]
Chr17:68173715 [GRCh37]
Chr17:17q24.3
benign
NM_000891.2(KCNJ2):c.531C>T (p.Gly177=) single nucleotide variant Andersen Tawil syndrome [RCV000277106]|Andersen Tawil syndrome [RCV000533744]|Atrial fibrillation, familial, 9 [RCV000297116]|Short QT syndrome 3 [RCV000354080] Chr17:70175570 [GRCh38]
Chr17:68171711 [GRCh37]
Chr17:17q24.3
benign|likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*646_*648dupGTT microsatellite Andersen Tawil syndrome [RCV000369489]|Familial atrial fibrillation [RCV000277018]|short QT syndrome [RCV000315813] Chr17:70176962..70176963 [GRCh38]
Chr17:68173103..68173104 [GRCh37]
Chr17:17q24.3
benign
NM_000891.2(KCNJ2):c.*1069C>T single nucleotide variant Andersen Tawil syndrome [RCV000356255]|Atrial fibrillation, familial, 9 [RCV000260363]|Short QT syndrome 3 [RCV000317799] Chr17:70177392 [GRCh38]
Chr17:68173533 [GRCh37]
Chr17:17q24.3
benign
NM_000891.2(KCNJ2):c.*2754T>C single nucleotide variant Andersen Tawil syndrome [RCV000315788]|Atrial fibrillation, familial, 9 [RCV000260451]|Short QT syndrome 3 [RCV000355220] Chr17:70179077 [GRCh38]
Chr17:68175218 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*3463del deletion Andersen Tawil syndrome [RCV000279999]|Familial atrial fibrillation [RCV000408246]|short QT syndrome [RCV000351226] Chr17:70179777 [GRCh38]
Chr17:68175918 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.-162delinsTCAGAGTAGT indel Andersen Tawil syndrome [RCV000319503]|Familial atrial fibrillation [RCV000372903]|short QT syndrome [RCV000278518] Chr17:70174878 [GRCh38]
Chr17:68171019 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*3391_*3392dup duplication Andersen Tawil syndrome [RCV000281253]|Familial atrial fibrillation [RCV000338572]|short QT syndrome [RCV000402404] Chr17:70179711..70179712 [GRCh38]
Chr17:68175852..68175853 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*1125G>A single nucleotide variant Andersen Tawil syndrome [RCV000378233]|Atrial fibrillation, familial, 9 [RCV000321141]|Short QT syndrome 3 [RCV000263677] Chr17:70177448 [GRCh38]
Chr17:68173589 [GRCh37]
Chr17:17q24.3
benign|likely benign
NM_000891.2(KCNJ2):c.-228C>T single nucleotide variant Andersen Tawil syndrome [RCV000330931]|Atrial fibrillation, familial, 9 [RCV000271205]|Short QT syndrome 3 [RCV000365619]|not specified [RCV000421621] Chr17:70169690 [GRCh38]
Chr17:68165831 [GRCh37]
Chr17:17q24.3
likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*136G>A single nucleotide variant Andersen Tawil syndrome [RCV000271275]|Atrial fibrillation, familial, 9 [RCV000325146]|Short QT syndrome 3 [RCV000382113] Chr17:70176459 [GRCh38]
Chr17:68172600 [GRCh37]
Chr17:17q24.3
benign
NM_000891.2(KCNJ2):c.*1350G>A single nucleotide variant Andersen Tawil syndrome [RCV000271672]|Atrial fibrillation, familial, 9 [RCV000357945]|Short QT syndrome 3 [RCV000300769] Chr17:70177673 [GRCh38]
Chr17:68173814 [GRCh37]
Chr17:17q24.3
benign|likely benign
NM_000891.2(KCNJ2):c.*2772_*2775del deletion Andersen Tawil syndrome [RCV000309716]|Familial atrial fibrillation [RCV000349262]|short QT syndrome [RCV000398378] Chr17:70179065..70179068 [GRCh38]
Chr17:68175206..68175209 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*2616A>G single nucleotide variant Andersen Tawil syndrome [RCV000309744]|Atrial fibrillation, familial, 9 [RCV000364473]|Short QT syndrome 3 [RCV000270038] Chr17:70178939 [GRCh38]
Chr17:68175080 [GRCh37]
Chr17:17q24.3
likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*832G>A single nucleotide variant Andersen Tawil syndrome [RCV000310762]|Atrial fibrillation, familial, 9 [RCV000407018]|Short QT syndrome 3 [RCV000367817] Chr17:70177155 [GRCh38]
Chr17:68173296 [GRCh37]
Chr17:17q24.3
benign
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser) single nucleotide variant Andersen Tawil syndrome [RCV000644781]|not provided [RCV000724926]|not specified [RCV000340562] Chr17:70175655 [GRCh38]
Chr17:68171796 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*2698T>C single nucleotide variant Andersen Tawil syndrome [RCV000376975]|Atrial fibrillation, familial, 9 [RCV000322292]|Short QT syndrome 3 [RCV000263516] Chr17:70179021 [GRCh38]
Chr17:68175162 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*2262C>T single nucleotide variant Andersen Tawil syndrome [RCV000327997]|Atrial fibrillation, familial, 9 [RCV000272911]|Short QT syndrome 3 [RCV000382521] Chr17:70178585 [GRCh38]
Chr17:68174726 [GRCh37]
Chr17:17q24.3
benign|likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*3208A>G single nucleotide variant Andersen Tawil syndrome [RCV000273825]|Atrial fibrillation, familial, 9 [RCV000364539]|Short QT syndrome 3 [RCV000330837] Chr17:70179531 [GRCh38]
Chr17:68175672 [GRCh37]
Chr17:17q24.3
benign|likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*3496T>C single nucleotide variant Andersen Tawil syndrome [RCV000368598]|Atrial fibrillation, familial, 9 [RCV000311603]|Short QT syndrome 3 [RCV000408248] Chr17:70179819 [GRCh38]
Chr17:68175960 [GRCh37]
Chr17:17q24.3
benign|likely benign
NM_000891.2(KCNJ2):c.*1719_*1721dup duplication Andersen Tawil syndrome [RCV000390211]|Familial atrial fibrillation [RCV000285206]|short QT syndrome [RCV000340167] Chr17:70178027..70178028 [GRCh38]
Chr17:68174168..68174169 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.-195C>G single nucleotide variant Andersen Tawil syndrome [RCV000367178]|Atrial fibrillation, familial, 9 [RCV000277293]|Short QT syndrome 3 [RCV000332229] Chr17:70174845 [GRCh38]
Chr17:68170986 [GRCh37]
Chr17:17q24.3
likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*3352T>A single nucleotide variant Andersen Tawil syndrome [RCV000382044]|Atrial fibrillation, familial, 9 [RCV000272313]|Short QT syndrome 3 [RCV000325001] Chr17:70179675 [GRCh38]
Chr17:68175816 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*2483G>A single nucleotide variant Andersen Tawil syndrome [RCV000279540]|Atrial fibrillation, familial, 9 [RCV000334621]|Short QT syndrome 3 [RCV000391796] Chr17:70178806 [GRCh38]
Chr17:68174947 [GRCh37]
Chr17:17q24.3
likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*1702_*1704dup duplication Andersen Tawil syndrome [RCV000302503]|Familial atrial fibrillation [RCV000360714]|short QT syndrome [RCV000266077] Chr17:70178024..70178025 [GRCh38]
Chr17:68174165..68174166 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*1678dup duplication Andersen Tawil syndrome [RCV000346150]|Familial atrial fibrillation [RCV000306463]|short QT syndrome [RCV000392207] Chr17:70177991..70177992 [GRCh38]
Chr17:68174132..68174133 [GRCh37]
Chr17:17q24.3
benign
NM_000891.2(KCNJ2):c.*1721dup duplication Andersen Tawil syndrome [RCV000387603]|Familial atrial fibrillation [RCV000329487]|short QT syndrome [RCV000293297] Chr17:70178027..70178028 [GRCh38]
Chr17:68174168..68174169 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*732T>G single nucleotide variant Andersen Tawil syndrome [RCV000284063]|Atrial fibrillation, familial, 9 [RCV000341449]|Short QT syndrome 3 [RCV000376289] Chr17:70177055 [GRCh38]
Chr17:68173196 [GRCh37]
Chr17:17q24.3
benign|likely benign|uncertain significance
NM_000891.2(KCNJ2):c.119G>A (p.Arg40Gln) single nucleotide variant Andersen Tawil syndrome [RCV000308982]|Andersen Tawil syndrome [RCV000795350]|Atrial fibrillation, familial, 9 [RCV000347359]|Short QT syndrome 3 [RCV000406881]|not provided [RCV000489623] Chr17:70175158 [GRCh38]
Chr17:68171299 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*2770_*2775del deletion Andersen Tawil syndrome [RCV000264015]|Familial atrial fibrillation [RCV000360860]|short QT syndrome [RCV000300478] Chr17:70179065..70179070 [GRCh38]
Chr17:68175206..68175211 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*2270G>T single nucleotide variant Andersen Tawil syndrome [RCV000377722]|Atrial fibrillation, familial, 9 [RCV000288039]|Short QT syndrome 3 [RCV000324400] Chr17:70178593 [GRCh38]
Chr17:68174734 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*766C>T single nucleotide variant Andersen Tawil syndrome [RCV000345739]|Atrial fibrillation, familial, 9 [RCV000288334]|Short QT syndrome 3 [RCV000407019] Chr17:70177089 [GRCh38]
Chr17:68173230 [GRCh37]
Chr17:17q24.3
benign|likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*122G>A single nucleotide variant Andersen Tawil syndrome [RCV000264944]|Atrial fibrillation, familial, 9 [RCV000357398]|Short QT syndrome 3 [RCV000300140] Chr17:70176445 [GRCh38]
Chr17:68172586 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*2776del deletion Andersen Tawil syndrome [RCV000388937]|Familial atrial fibrillation [RCV000275920]|short QT syndrome [RCV000331057] Chr17:70179099 [GRCh38]
Chr17:68175240 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*3536C>T single nucleotide variant Andersen Tawil syndrome [RCV000363197]|Atrial fibrillation, familial, 9 [RCV000310797]|Short QT syndrome 3 [RCV000270731] Chr17:70179859 [GRCh38]
Chr17:68176000 [GRCh37]
Chr17:17q24.3
likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*79C>T single nucleotide variant Andersen Tawil syndrome [RCV000406151]|Atrial fibrillation, familial, 9 [RCV000335341]|Short QT syndrome 3 [RCV000315527] Chr17:70176402 [GRCh38]
Chr17:68172543 [GRCh37]
Chr17:17q24.3
benign|likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*1596A>C single nucleotide variant Andersen Tawil syndrome [RCV000294561]|Atrial fibrillation, familial, 9 [RCV000388968]|Short QT syndrome 3 [RCV000334686] Chr17:70177919 [GRCh38]
Chr17:68174060 [GRCh37]
Chr17:17q24.3
benign|likely benign
NM_000891.2(KCNJ2):c.*2277C>T single nucleotide variant Andersen Tawil syndrome [RCV000338330]|Atrial fibrillation, familial, 9 [RCV000389990]|Short QT syndrome 3 [RCV000283185] Chr17:70178600 [GRCh38]
Chr17:68174741 [GRCh37]
Chr17:17q24.3
likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*3163T>A single nucleotide variant Andersen Tawil syndrome [RCV000313757]|Atrial fibrillation, familial, 9 [RCV000370704]|Short QT syndrome 3 [RCV000393822] Chr17:70179486 [GRCh38]
Chr17:68175627 [GRCh37]
Chr17:17q24.3
benign|likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*2663T>C single nucleotide variant Andersen Tawil syndrome [RCV000266555]|Atrial fibrillation, familial, 9 [RCV000361193]|Short QT syndrome 3 [RCV000306382] Chr17:70178986 [GRCh38]
Chr17:68175127 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*1704_*1705dupCT microsatellite Andersen Tawil syndrome [RCV000333049]|Familial atrial fibrillation [RCV000277487]|short QT syndrome [RCV000353529] Chr17:70178024..70178025 [GRCh38]
Chr17:68174165..68174166 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*996C>T single nucleotide variant Andersen Tawil syndrome [RCV000403317]|Atrial fibrillation, familial, 9 [RCV000313830]|Short QT syndrome 3 [RCV000371373] Chr17:70177319 [GRCh38]
Chr17:68173460 [GRCh37]
Chr17:17q24.3
benign|likely benign|uncertain significance
NM_000891.2(KCNJ2):c.-314T>C single nucleotide variant Andersen Tawil syndrome [RCV000392628]|Atrial fibrillation, familial, 9 [RCV000337525]|Short QT syndrome 3 [RCV000305228] Chr17:70169604 [GRCh38]
Chr17:68165745 [GRCh37]
Chr17:17q24.3
benign|likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*1815G>A single nucleotide variant Andersen Tawil syndrome [RCV000406942]|Atrial fibrillation, familial, 9 [RCV000297104]|Short QT syndrome 3 [RCV000370451] Chr17:70178138 [GRCh38]
Chr17:68174279 [GRCh37]
Chr17:17q24.3
benign|likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*1267A>G single nucleotide variant Andersen Tawil syndrome [RCV000391863]|Atrial fibrillation, familial, 9 [RCV000297188]|Short QT syndrome 3 [RCV000335723] Chr17:70177590 [GRCh38]
Chr17:68173731 [GRCh37]
Chr17:17q24.3
benign
NM_000891.2(KCNJ2):c.*213G>A single nucleotide variant Andersen Tawil syndrome [RCV000278444]|Atrial fibrillation, familial, 9 [RCV000332277]|Short QT syndrome 3 [RCV000389222] Chr17:70176536 [GRCh38]
Chr17:68172677 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*2775dup duplication Andersen Tawil syndrome [RCV000373286]|Familial atrial fibrillation [RCV000278756]|short QT syndrome [RCV000318675] Chr17:70179064..70179065 [GRCh38]
Chr17:68175205..68175206 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*1198A>G single nucleotide variant Andersen Tawil syndrome [RCV000347084]|Atrial fibrillation, familial, 9 [RCV000385542]|Short QT syndrome 3 [RCV000289838] Chr17:70177521 [GRCh38]
Chr17:68173662 [GRCh37]
Chr17:17q24.3
benign
NM_000891.2(KCNJ2):c.168T>C (p.Val56=) single nucleotide variant Andersen Tawil syndrome [RCV001088349]|not provided [RCV000329826] Chr17:70175207 [GRCh38]
Chr17:68171348 [GRCh37]
Chr17:17q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000891.2(KCNJ2):c.806T>A (p.Ile269Lys) single nucleotide variant not provided [RCV000364962] Chr17:70175845 [GRCh38]
Chr17:68171986 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*124G>A single nucleotide variant Andersen Tawil syndrome [RCV000303675]|Atrial fibrillation, familial, 9 [RCV000267673]|Short QT syndrome 3 [RCV000360000] Chr17:70176447 [GRCh38]
Chr17:68172588 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*558C>T single nucleotide variant Andersen Tawil syndrome [RCV000392706]|Atrial fibrillation, familial, 9 [RCV000339443]|Short QT syndrome 3 [RCV000305629] Chr17:70176881 [GRCh38]
Chr17:68173022 [GRCh37]
Chr17:17q24.3
benign
NM_000891.2(KCNJ2):c.*3618A>G single nucleotide variant Andersen Tawil syndrome [RCV000362020]|Atrial fibrillation, familial, 9 [RCV000264986]|Short QT syndrome 3 [RCV000323696] Chr17:70179941 [GRCh38]
Chr17:68176082 [GRCh37]
Chr17:17q24.3
likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*2893C>T single nucleotide variant Andersen Tawil syndrome [RCV000302201]|Atrial fibrillation, familial, 9 [RCV000340552]|Short QT syndrome 3 [RCV000399473] Chr17:70179216 [GRCh38]
Chr17:68175357 [GRCh37]
Chr17:17q24.3
benign|likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*687A>C single nucleotide variant Andersen Tawil syndrome [RCV000280401]|Atrial fibrillation, familial, 9 [RCV000372802]|Short QT syndrome 3 [RCV000319326] Chr17:70177010 [GRCh38]
Chr17:68173151 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*2001A>G single nucleotide variant Andersen Tawil syndrome [RCV000367120]|Atrial fibrillation, familial, 9 [RCV000331106]|Short QT syndrome 3 [RCV000275998] Chr17:70178324 [GRCh38]
Chr17:68174465 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*2771_*2775del deletion Andersen Tawil syndrome [RCV000391436]|Familial atrial fibrillation [RCV000345628]|short QT syndrome [RCV000306146] Chr17:70179065..70179069 [GRCh38]
Chr17:68175206..68175210 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*596T>A single nucleotide variant Andersen Tawil syndrome [RCV000404552]|Atrial fibrillation, familial, 9 [RCV000362622]|Short QT syndrome 3 [RCV000309047] Chr17:70176919 [GRCh38]
Chr17:68173060 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*1702dup duplication Andersen Tawil syndrome [RCV000317422]|Familial atrial fibrillation [RCV000357404]|short QT syndrome [RCV000262262] Chr17:70178024..70178025 [GRCh38]
Chr17:68174165..68174166 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*2774_*2775del deletion Andersen Tawil syndrome [RCV000388247]|Familial atrial fibrillation [RCV000294371]|short QT syndrome [RCV000352322] Chr17:70179065..70179066 [GRCh38]
Chr17:68175206..68175207 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.-258C>T single nucleotide variant Andersen Tawil syndrome [RCV000404288]|Atrial fibrillation, familial, 9 [RCV000306242]|Short QT syndrome 3 [RCV000360060] Chr17:70169660 [GRCh38]
Chr17:68165801 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*1440A>T single nucleotide variant Andersen Tawil syndrome [RCV000319426]|Atrial fibrillation, familial, 9 [RCV000374052]|Short QT syndrome 3 [RCV000279602] Chr17:70177763 [GRCh38]
Chr17:68173904 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.-88C>T single nucleotide variant Andersen Tawil syndrome [RCV000339533]|Familial atrial fibrillation [RCV000284472]|short QT syndrome [RCV000374282] Chr17:70174952 [GRCh38]
Chr17:68171093 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*2526A>G single nucleotide variant Andersen Tawil syndrome [RCV000391790]|Atrial fibrillation, familial, 9 [RCV000368040]|Short QT syndrome 3 [RCV000313681] Chr17:70178849 [GRCh38]
Chr17:68174990 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*3353C>T single nucleotide variant Andersen Tawil syndrome [RCV000285302]|Atrial fibrillation, familial, 9 [RCV000376334]|Short QT syndrome 3 [RCV000324027] Chr17:70179676 [GRCh38]
Chr17:68175817 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*324del deletion Andersen Tawil syndrome [RCV000392714]|Familial atrial fibrillation [RCV000335785]|short QT syndrome [RCV000282041] Chr17:70176645 [GRCh38]
Chr17:68172786 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*1412G>A single nucleotide variant Andersen Tawil syndrome [RCV000323130]|Atrial fibrillation, familial, 9 [RCV000377664]|Short QT syndrome 3 [RCV000264458] Chr17:70177735 [GRCh38]
Chr17:68173876 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*1631C>G single nucleotide variant Andersen Tawil syndrome [RCV000309987]|Atrial fibrillation, familial, 9 [RCV000392219]|Short QT syndrome 3 [RCV000349445] Chr17:70177954 [GRCh38]
Chr17:68174095 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.222C>T (p.Thr74=) single nucleotide variant not specified [RCV000599648] Chr17:70175261 [GRCh38]
Chr17:68171402 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.*1128dup duplication Andersen Tawil syndrome [RCV000325045]|Familial atrial fibrillation [RCV000382035]|short QT syndrome [RCV000267305] Chr17:70177450..70177451 [GRCh38]
Chr17:68173591..68173592 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.919A>G (p.Met307Val) single nucleotide variant Andersen Tawil syndrome [RCV000644782]|Cardiovascular phenotype [RCV000620128] Chr17:70175958 [GRCh38]
Chr17:68172099 [GRCh37]
Chr17:17q24.3
likely pathogenic|uncertain significance
NM_000891.2(KCNJ2):c.1002G>A (p.Lys334=) single nucleotide variant Andersen Tawil syndrome [RCV000532096] Chr17:70176041 [GRCh38]
Chr17:68172182 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.344C>T (p.Ala115Val) single nucleotide variant Andersen Tawil syndrome [RCV000312265]|Atrial fibrillation, familial, 9 [RCV000402714]|Short QT syndrome 3 [RCV000369248] Chr17:70175383 [GRCh38]
Chr17:68171524 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.*2812T>C single nucleotide variant Andersen Tawil syndrome [RCV000347868]|Atrial fibrillation, familial, 9 [RCV000290617]|Short QT syndrome 3 [RCV000385588] Chr17:70179135 [GRCh38]
Chr17:68175276 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.853C>T (p.Gln285Ter) single nucleotide variant not provided [RCV000598639] Chr17:70175892 [GRCh38]
Chr17:68172033 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.155G>T (p.Gly52Val) single nucleotide variant not specified [RCV000627123] Chr17:70175194 [GRCh38]
Chr17:68171335 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.1006TAC[1] (p.Tyr337del) microsatellite not provided [RCV000599319] Chr17:70176043..70176045 [GRCh38]
Chr17:68172184..68172186 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.302G>T (p.Cys101Phe) single nucleotide variant not provided [RCV000522222] Chr17:70175341 [GRCh38]
Chr17:68171482 [GRCh37]
Chr17:17q24.3
uncertain significance
GRCh37/hg19 17q24.2-24.3(chr17:65343022-69344022)x3 copy number gain See cases [RCV000446484] Chr17:65343022..69344022 [GRCh37]
Chr17:17q24.2-24.3
uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
NM_000891.2(KCNJ2):c.774C>T (p.Ile258=) single nucleotide variant not specified [RCV000424015] Chr17:70175813 [GRCh38]
Chr17:68171954 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.867C>T (p.Asn289=) single nucleotide variant Andersen Tawil syndrome [RCV000864664]|Andersen Tawil syndrome [RCV001125505]|Atrial fibrillation, familial, 9 [RCV001125506]|Cardiovascular phenotype [RCV000622080]|Short QT syndrome 3 [RCV001125504]|not specified [RCV000438204] Chr17:70175906 [GRCh38]
Chr17:68172047 [GRCh37]
Chr17:17q24.3
benign|likely benign|uncertain significance
NM_000891.2(KCNJ2):c.*20G>T single nucleotide variant not specified [RCV000431713] Chr17:70176343 [GRCh38]
Chr17:68172484 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.51C>T (p.Asp17=) single nucleotide variant Andersen Tawil syndrome [RCV000557701]|not specified [RCV000419438] Chr17:70175090 [GRCh38]
Chr17:68171231 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.901A>C (p.Met301Leu) single nucleotide variant Andersen Tawil syndrome [RCV000535723]|not provided [RCV000435544] Chr17:70175940 [GRCh38]
Chr17:68172081 [GRCh37]
Chr17:17q24.3
pathogenic|uncertain significance
NM_000891.2(KCNJ2):c.513C>T (p.Ile171=) single nucleotide variant Andersen Tawil syndrome [RCV001426421]|not specified [RCV000430223] Chr17:70175552 [GRCh38]
Chr17:68171693 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.858C>T (p.Asp286=) single nucleotide variant Andersen Tawil syndrome [RCV001434889]|not specified [RCV000430341] Chr17:70175897 [GRCh38]
Chr17:68172038 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.1044C>T (p.Tyr348=) single nucleotide variant Andersen Tawil syndrome [RCV000644787]|Cardiovascular phenotype [RCV000617479]|not specified [RCV000420520] Chr17:70176083 [GRCh38]
Chr17:68172224 [GRCh37]
Chr17:17q24.3
benign|likely benign
NM_000891.2(KCNJ2):c.1254C>G (p.Pro418=) single nucleotide variant Andersen Tawil syndrome [RCV001127605]|Atrial fibrillation, familial, 9 [RCV001127604]|Short QT syndrome 3 [RCV001127606]|not provided [RCV000644784]|not specified [RCV000430762] Chr17:70176293 [GRCh38]
Chr17:68172434 [GRCh37]
Chr17:17q24.3
benign|likely benign|uncertain significance
NM_000891.2(KCNJ2):c.-217+11C>T single nucleotide variant not specified [RCV000437455] Chr17:70169712 [GRCh38]
Chr17:68165853 [GRCh37]
Chr17:17q24.3
likely benign
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
NM_000891.2(KCNJ2):c.208G>T (p.Ala70Ser) single nucleotide variant Andersen Tawil syndrome [RCV000459178] Chr17:70175247 [GRCh38]
Chr17:68171388 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.96C>T (p.Asn32=) single nucleotide variant Andersen Tawil syndrome [RCV000459558] Chr17:70175135 [GRCh38]
Chr17:68171276 [GRCh37]
Chr17:17q24.3
benign
NM_000891.2(KCNJ2):c.1091A>G (p.Lys364Arg) single nucleotide variant Andersen Tawil syndrome [RCV000464347]|not provided [RCV000786146] Chr17:70176130 [GRCh38]
Chr17:68172271 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.682C>T (p.Arg228Ter) single nucleotide variant Andersen Tawil syndrome [RCV000457313]|Andersen Tawil syndrome [RCV001382646] Chr17:70175721 [GRCh38]
Chr17:68171862 [GRCh37]
Chr17:17q24.3
pathogenic|uncertain significance
NM_000891.2(KCNJ2):c.276C>T (p.Phe92=) single nucleotide variant not provided [RCV000469032]|not specified [RCV000616258] Chr17:70175315 [GRCh38]
Chr17:68171456 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.416C>T (p.Thr139Ile) single nucleotide variant Andersen Tawil syndrome [RCV000462204] Chr17:70175455 [GRCh38]
Chr17:68171596 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.119G>C (p.Arg40Pro) single nucleotide variant Andersen Tawil syndrome [RCV000473222] Chr17:70175158 [GRCh38]
Chr17:68171299 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.974G>A (p.Arg325His) single nucleotide variant not provided [RCV000498871] Chr17:70176013 [GRCh38]
Chr17:68172154 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.359A>C (p.Lys120Thr) single nucleotide variant Andersen Tawil syndrome [RCV001302677]|none provided [RCV001285942]|not provided [RCV000497313] Chr17:70175398 [GRCh38]
Chr17:68171539 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.653G>C (p.Arg218Pro) single nucleotide variant not provided [RCV000493695] Chr17:70175692 [GRCh38]
Chr17:68171833 [GRCh37]
Chr17:17q24.3
likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000891.2(KCNJ2):c.565A>G (p.Arg189Gly) single nucleotide variant not provided [RCV000493398] Chr17:70175604 [GRCh38]
Chr17:68171745 [GRCh37]
Chr17:17q24.3
likely pathogenic
NM_000891.2(KCNJ2):c.1164C>T (p.Asp388=) single nucleotide variant Andersen Tawil syndrome [RCV001086402]|not provided [RCV000867232]|not specified [RCV000607559] Chr17:70176203 [GRCh38]
Chr17:68172344 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.52G>A (p.Gly18Ser) single nucleotide variant Andersen Tawil syndrome [RCV000644778] Chr17:70175091 [GRCh38]
Chr17:68171232 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.49G>A (p.Asp17Asn) single nucleotide variant Wolff-Parkinson-White pattern [RCV000656202] Chr17:70175088 [GRCh38]
Chr17:68171229 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.752A>G (p.Asn251Ser) single nucleotide variant not provided [RCV000523981] Chr17:70175791 [GRCh38]
Chr17:68171932 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.687A>G (p.Ala229=) single nucleotide variant not specified [RCV000609679] Chr17:70175726 [GRCh38]
Chr17:68171867 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.510C>G (p.Ile170Met) single nucleotide variant Cardiovascular phenotype [RCV000617655] Chr17:70175549 [GRCh38]
Chr17:68171690 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.365G>A (p.Cys122Tyr) single nucleotide variant Cardiovascular phenotype [RCV000618249] Chr17:70175404 [GRCh38]
Chr17:68171545 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.60G>A (p.Lys20=) single nucleotide variant Andersen Tawil syndrome [RCV001413914]|not specified [RCV000613303] Chr17:70175099 [GRCh38]
Chr17:68171240 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.1206G>T (p.Thr402=) single nucleotide variant not provided [RCV000913710]|not specified [RCV000613402] Chr17:70176245 [GRCh38]
Chr17:68172386 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.-235G>A single nucleotide variant not specified [RCV000613486] Chr17:70169683 [GRCh38]
Chr17:68165824 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.924G>A (p.Thr308=) single nucleotide variant Andersen Tawil syndrome [RCV001430012]|not specified [RCV000608506] Chr17:70175963 [GRCh38]
Chr17:68172104 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.33C>T (p.Ile11=) single nucleotide variant not specified [RCV000611175] Chr17:70175072 [GRCh38]
Chr17:68171213 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.327C>T (p.Leu109=) single nucleotide variant Andersen Tawil syndrome [RCV000532821]|Cardiovascular phenotype [RCV000617411]|not provided [RCV000827913] Chr17:70175366 [GRCh38]
Chr17:68171507 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.1112C>A (p.Ala371Glu) single nucleotide variant Andersen Tawil syndrome [RCV000539970] Chr17:70176151 [GRCh38]
Chr17:68172292 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.-210T>C single nucleotide variant not specified [RCV000614701] Chr17:70174830 [GRCh38]
Chr17:68170971 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.1206G>A (p.Thr402=) single nucleotide variant Cardiovascular phenotype [RCV000617772] Chr17:70176245 [GRCh38]
Chr17:68172386 [GRCh37]
Chr17:17q24.3
likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000891.2(KCNJ2):c.1205C>T (p.Thr402Met) single nucleotide variant Andersen Tawil syndrome [RCV000698640]|Cardiovascular phenotype [RCV000619357]|not specified [RCV000627126] Chr17:70176244 [GRCh38]
Chr17:68172385 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.24C>T (p.Arg8=) single nucleotide variant not provided [RCV000644786] Chr17:70175063 [GRCh38]
Chr17:68171204 [GRCh37]
Chr17:17q24.3
likely benign
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
NM_000891.2(KCNJ2):c.665T>C (p.Leu222Ser) single nucleotide variant not provided [RCV000657962] Chr17:70175704 [GRCh38]
Chr17:68171845 [GRCh37]
Chr17:17q24.3
likely pathogenic
NM_000891.2(KCNJ2):c.326T>C (p.Leu109Pro) single nucleotide variant Andersen Tawil syndrome [RCV000685772] Chr17:70175365 [GRCh38]
Chr17:68171506 [GRCh37]
Chr17:17q24.3
uncertain significance
GRCh37/hg19 17q24.3(chr17:67671686-70691445)x3 copy number gain not provided [RCV000683956] Chr17:67671686..70691445 [GRCh37]
Chr17:17q24.3
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_000891.2(KCNJ2):c.1102del (p.Leu368fs) deletion Andersen Tawil syndrome [RCV000689975] Chr17:70176140 [GRCh38]
Chr17:68172281 [GRCh37]
Chr17:17q24.3
pathogenic
NM_000891.2(KCNJ2):c.1190G>A (p.Ser397Asn) single nucleotide variant Andersen Tawil syndrome [RCV000685930] Chr17:70176229 [GRCh38]
Chr17:68172370 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr) single nucleotide variant Andersen Tawil syndrome [RCV000845379]|Andersen Tawil syndrome [RCV001230651] Chr17:70175500 [GRCh38]
Chr17:68171641 [GRCh37]
Chr17:17q24.3
likely pathogenic|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2
likely pathogenic
NM_000891.3(KCNJ2):c.225G>A (p.Thr75=) single nucleotide variant Andersen Tawil syndrome [RCV000908508] Chr17:70175264 [GRCh38]
Chr17:68171405 [GRCh37]
Chr17:17q24.3
benign
NM_000891.3(KCNJ2):c.1056C>T (p.Asn352=) single nucleotide variant Andersen Tawil syndrome [RCV001428806]|not provided [RCV000976998] Chr17:70176095 [GRCh38]
Chr17:68172236 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.795C>T (p.Ser265=) single nucleotide variant Andersen Tawil syndrome [RCV000930133] Chr17:70175834 [GRCh38]
Chr17:68171975 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.366T>C (p.Cys122=) single nucleotide variant Andersen Tawil syndrome [RCV000869556] Chr17:70175405 [GRCh38]
Chr17:68171546 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.570C>T (p.Asn190=) single nucleotide variant Andersen Tawil syndrome [RCV000869943] Chr17:70175609 [GRCh38]
Chr17:68171750 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.678T>C (p.His226=) single nucleotide variant Andersen Tawil syndrome [RCV000872497] Chr17:70175717 [GRCh38]
Chr17:68171858 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.207C>G (p.Leu69=) single nucleotide variant Andersen Tawil syndrome [RCV000874391] Chr17:70175246 [GRCh38]
Chr17:68171387 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.132G>A (p.Arg44=) single nucleotide variant Andersen Tawil syndrome [RCV000875792] Chr17:70175171 [GRCh38]
Chr17:68171312 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=) single nucleotide variant Andersen Tawil syndrome [RCV000876216]|Andersen Tawil syndrome [RCV001123386]|Atrial fibrillation, familial, 9 [RCV001127506]|Short QT syndrome 3 [RCV001123387] Chr17:70175342 [GRCh38]
Chr17:68171483 [GRCh37]
Chr17:17q24.3
likely benign|uncertain significance
NM_000891.3(KCNJ2):c.1196G>A (p.Ser399Asn) single nucleotide variant Andersen Tawil syndrome [RCV001070751] Chr17:70176235 [GRCh38]
Chr17:68172376 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.373G>A (p.Glu125Lys) single nucleotide variant Andersen Tawil syndrome [RCV001055177] Chr17:70175412 [GRCh38]
Chr17:68171553 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.941C>T (p.Ser314Phe) single nucleotide variant not provided [RCV000996603] Chr17:70175980 [GRCh38]
Chr17:68172121 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.138C>T (p.Arg46=) single nucleotide variant Andersen Tawil syndrome [RCV001435764]|not provided [RCV000827912]|not specified [RCV001193333] Chr17:70175177 [GRCh38]
Chr17:68171318 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.387C>T (p.Phe129=) single nucleotide variant Andersen Tawil syndrome [RCV001445811]|not provided [RCV000933076] Chr17:70175426 [GRCh38]
Chr17:68171567 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.1212T>C (p.Pro404=) single nucleotide variant Andersen Tawil syndrome [RCV000865615] Chr17:70176251 [GRCh38]
Chr17:68172392 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.2(KCNJ2):c.299G>T (p.Gly100Val) single nucleotide variant Andersen Tawil syndrome [RCV000810309] Chr17:70175338 [GRCh38]
Chr17:68171479 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.1177G>T (p.Gly393Ter) single nucleotide variant Andersen Tawil syndrome [RCV000790973] Chr17:70176216 [GRCh38]
Chr17:68172357 [GRCh37]
Chr17:17q24.3
pathogenic
NM_000891.2(KCNJ2):c.929A>G (p.Gln310Arg) single nucleotide variant Andersen Tawil syndrome [RCV000821962] Chr17:70175968 [GRCh38]
Chr17:68172109 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.232G>C (p.Asp78His) single nucleotide variant Andersen Tawil syndrome [RCV000803866] Chr17:70175271 [GRCh38]
Chr17:68171412 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.569A>T (p.Asn190Ile) single nucleotide variant Andersen Tawil syndrome [RCV000796408] Chr17:70175608 [GRCh38]
Chr17:68171749 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.101A>G (p.Lys34Arg) single nucleotide variant Andersen Tawil syndrome [RCV000818687] Chr17:70175140 [GRCh38]
Chr17:68171281 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.158A>G (p.His53Arg) single nucleotide variant Andersen Tawil syndrome [RCV000793841] Chr17:70175197 [GRCh38]
Chr17:68171338 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.566G>C (p.Arg189Thr) single nucleotide variant Andersen Tawil syndrome [RCV000818073] Chr17:70175605 [GRCh38]
Chr17:68171746 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.557C>A (p.Pro186Gln) single nucleotide variant Andersen Tawil syndrome [RCV000808465] Chr17:70175596 [GRCh38]
Chr17:68171737 [GRCh37]
Chr17:17q24.3
likely pathogenic|uncertain significance
NM_000891.2(KCNJ2):c.1067G>T (p.Cys356Phe) single nucleotide variant Andersen Tawil syndrome [RCV000815131] Chr17:70176106 [GRCh38]
Chr17:68172247 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly) single nucleotide variant Andersen Tawil syndrome [RCV000850566] Chr17:70175935 [GRCh38]
Chr17:68172076 [GRCh37]
Chr17:17q24.3
likely pathogenic
NM_000891.2(KCNJ2):c.794C>T (p.Ser265Phe) single nucleotide variant Andersen Tawil syndrome [RCV000790449] Chr17:70175833 [GRCh38]
Chr17:68171974 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.526_531dup (p.Ile176_Gly177dup) duplication not provided [RCV000986190] Chr17:70175563..70175564 [GRCh38]
Chr17:68171704..68171705 [GRCh37]
Chr17:17q24.3
likely pathogenic
NM_000891.2(KCNJ2):c.1196G>C (p.Ser399Thr) single nucleotide variant Andersen Tawil syndrome [RCV000790448]|Andersen Tawil syndrome [RCV001058326] Chr17:70176235 [GRCh38]
Chr17:68172376 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.2(KCNJ2):c.259A>G (p.Ile87Val) single nucleotide variant Andersen Tawil syndrome [RCV000812716] Chr17:70175298 [GRCh38]
Chr17:68171439 [GRCh37]
Chr17:17q24.3
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17q24.3(chr17:68056381-68268736)x1 copy number loss not provided [RCV001006915] Chr17:68056381..68268736 [GRCh37]
Chr17:17q24.3
likely pathogenic
NM_000891.3(KCNJ2):c.883G>A (p.Val295Met) single nucleotide variant Andersen Tawil syndrome [RCV001219363] Chr17:70175922 [GRCh38]
Chr17:68172063 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.868G>A (p.Ala290Thr) single nucleotide variant Andersen Tawil syndrome [RCV001228175] Chr17:70175907 [GRCh38]
Chr17:68172048 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.859A>C (p.Ile287Leu) single nucleotide variant Andersen Tawil syndrome [RCV001223612] Chr17:70175898 [GRCh38]
Chr17:68172039 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.721del (p.Glu241fs) deletion Andersen Tawil syndrome [RCV001233893] Chr17:70175757 [GRCh38]
Chr17:68171898 [GRCh37]
Chr17:17q24.3
pathogenic
NM_000891.3(KCNJ2):c.781A>G (p.Ile261Val) single nucleotide variant Andersen Tawil syndrome [RCV001322679]|Hypertrophic cardiomyopathy [RCV000852469] Chr17:70175820 [GRCh38]
Chr17:68171961 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*210A>T single nucleotide variant Andersen Tawil syndrome [RCV001127696]|Atrial fibrillation, familial, 9 [RCV001127694]|Short QT syndrome 3 [RCV001127695] Chr17:70176533 [GRCh38]
Chr17:68172674 [GRCh37]
Chr17:17q24.3
benign|uncertain significance
NM_000891.3(KCNJ2):c.511A>G (p.Ile171Val) single nucleotide variant Andersen Tawil syndrome [RCV001239073] Chr17:70175550 [GRCh38]
Chr17:68171691 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*2370C>T single nucleotide variant Andersen Tawil syndrome [RCV001122297]|Atrial fibrillation, familial, 9 [RCV001122298]|Short QT syndrome 3 [RCV001122299] Chr17:70178693 [GRCh38]
Chr17:68174834 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.22C>T (p.Arg8Cys) single nucleotide variant Andersen Tawil syndrome [RCV001127503]|Andersen Tawil syndrome [RCV001211254]|Atrial fibrillation, familial, 9 [RCV001127502]|Short QT syndrome 3 [RCV001125410] Chr17:70175061 [GRCh38]
Chr17:68171202 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=) single nucleotide variant Andersen Tawil syndrome [RCV001123505]|Atrial fibrillation, familial, 9 [RCV001123504]|Short QT syndrome 3 [RCV001123503] Chr17:70176314 [GRCh38]
Chr17:68172455 [GRCh37]
Chr17:17q24.3
benign|uncertain significance
NM_000891.3(KCNJ2):c.9T>C (p.Ser3=) single nucleotide variant Andersen Tawil syndrome [RCV001445775]|not provided [RCV000938427] Chr17:70175048 [GRCh38]
Chr17:68171189 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.87C>T (p.Gly29=) single nucleotide variant Andersen Tawil syndrome [RCV001412249]|not provided [RCV000942764] Chr17:70175126 [GRCh38]
Chr17:68171267 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.*1345G>A single nucleotide variant Andersen Tawil syndrome [RCV001122098]|Atrial fibrillation, familial, 9 [RCV001122097]|Short QT syndrome 3 [RCV001122099] Chr17:70177668 [GRCh38]
Chr17:68173809 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.-348G>A single nucleotide variant Andersen Tawil syndrome [RCV001123309]|Atrial fibrillation, familial, 9 [RCV001123308]|Short QT syndrome 3 [RCV001123307] Chr17:70169570 [GRCh38]
Chr17:68165711 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*39C>T single nucleotide variant Andersen Tawil syndrome [RCV001123509]|Atrial fibrillation, familial, 9 [RCV001124590]|Short QT syndrome 3 [RCV001123510] Chr17:70176362 [GRCh38]
Chr17:68172503 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*572G>T single nucleotide variant Andersen Tawil syndrome [RCV001123603]|Atrial fibrillation, familial, 9 [RCV001124679]|Short QT syndrome 3 [RCV001124678] Chr17:70176895 [GRCh38]
Chr17:68173036 [GRCh37]
Chr17:17q24.3
benign|uncertain significance
NM_000891.3(KCNJ2):c.*709A>G single nucleotide variant Andersen Tawil syndrome [RCV001125683]|Atrial fibrillation, familial, 9 [RCV001125681]|Short QT syndrome 3 [RCV001125682] Chr17:70177032 [GRCh38]
Chr17:68173173 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*1226C>G single nucleotide variant Andersen Tawil syndrome [RCV001125760]|Atrial fibrillation, familial, 9 [RCV001125762]|Short QT syndrome 3 [RCV001125761] Chr17:70177549 [GRCh38]
Chr17:68173690 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*1266C>T single nucleotide variant Andersen Tawil syndrome [RCV001125763]|Atrial fibrillation, familial, 9 [RCV001127868]|Short QT syndrome 3 [RCV001127869] Chr17:70177589 [GRCh38]
Chr17:68173730 [GRCh37]
Chr17:17q24.3
benign
NM_000891.3(KCNJ2):c.341A>G (p.Asp114Gly) single nucleotide variant Andersen Tawil syndrome [RCV001123388]|Atrial fibrillation, familial, 9 [RCV001123390]|Short QT syndrome 3 [RCV001123389] Chr17:70175380 [GRCh38]
Chr17:68171521 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*35A>C single nucleotide variant Andersen Tawil syndrome [RCV001123508]|Atrial fibrillation, familial, 9 [RCV001123507]|Short QT syndrome 3 [RCV001123506] Chr17:70176358 [GRCh38]
Chr17:68172499 [GRCh37]
Chr17:17q24.3
benign|uncertain significance
NM_000891.3(KCNJ2):c.*2065A>G single nucleotide variant Andersen Tawil syndrome [RCV001124979]|Atrial fibrillation, familial, 9 [RCV001124981]|Short QT syndrome 3 [RCV001124980] Chr17:70178388 [GRCh38]
Chr17:68174529 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*3032A>G single nucleotide variant Andersen Tawil syndrome [RCV001126177]|Atrial fibrillation, familial, 9 [RCV001125198]|Short QT syndrome 3 [RCV001126176] Chr17:70179355 [GRCh38]
Chr17:68175496 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*108G>A single nucleotide variant Andersen Tawil syndrome [RCV001124591]|Atrial fibrillation, familial, 9 [RCV001124593]|Short QT syndrome 3 [RCV001124592] Chr17:70176431 [GRCh38]
Chr17:68172572 [GRCh37]
Chr17:17q24.3
benign|uncertain significance
NM_000891.3(KCNJ2):c.*1449C>T single nucleotide variant Andersen Tawil syndrome [RCV001125848]|Atrial fibrillation, familial, 9 [RCV001125849]|Short QT syndrome 3 [RCV001125847] Chr17:70177772 [GRCh38]
Chr17:68173913 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*2748T>C single nucleotide variant Andersen Tawil syndrome [RCV001128150]|Atrial fibrillation, familial, 9 [RCV001126063]|Short QT syndrome 3 [RCV001128151] Chr17:70179071 [GRCh38]
Chr17:68175212 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn) single nucleotide variant Andersen Tawil syndrome [RCV001044601] Chr17:70176204 [GRCh38]
Chr17:68172345 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*1030C>T single nucleotide variant Andersen Tawil syndrome [RCV001122008]|Atrial fibrillation, familial, 9 [RCV001122009]|Short QT syndrome 3 [RCV001122007] Chr17:70177353 [GRCh38]
Chr17:68173494 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*2759T>C single nucleotide variant Andersen Tawil syndrome [RCV001122420]|Atrial fibrillation, familial, 9 [RCV001122419]|Short QT syndrome 3 [RCV001122421] Chr17:70179082 [GRCh38]
Chr17:68175223 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*308C>T single nucleotide variant Andersen Tawil syndrome [RCV001123601]|Atrial fibrillation, familial, 9 [RCV001123602]|Short QT syndrome 3 [RCV001123600] Chr17:70176631 [GRCh38]
Chr17:68172772 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*1646T>C single nucleotide variant Andersen Tawil syndrome [RCV001122205]|Atrial fibrillation, familial, 9 [RCV001122204]|Short QT syndrome 3 [RCV001122203] Chr17:70177969 [GRCh38]
Chr17:68174110 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*879C>T single nucleotide variant Andersen Tawil syndrome [RCV001122005]|Atrial fibrillation, familial, 9 [RCV001127782]|Short QT syndrome 3 [RCV001122006] Chr17:70177202 [GRCh38]
Chr17:68173343 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*2343C>T single nucleotide variant Andersen Tawil syndrome [RCV001122296]|Atrial fibrillation, familial, 9 [RCV001122295]|Short QT syndrome 3 [RCV001128064] Chr17:70178666 [GRCh38]
Chr17:68174807 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*3409A>G single nucleotide variant Andersen Tawil syndrome [RCV001122519]|Atrial fibrillation, familial, 9 [RCV001122520]|Short QT syndrome 3 [RCV001122521] Chr17:70179732 [GRCh38]
Chr17:68175873 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*2887T>G single nucleotide variant Andersen Tawil syndrome [RCV001122423]|Atrial fibrillation, familial, 9 [RCV001125197]|Short QT syndrome 3 [RCV001122422] Chr17:70179210 [GRCh38]
Chr17:68175351 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.23G>A (p.Arg8His) single nucleotide variant Andersen Tawil syndrome [RCV001047780] Chr17:70175062 [GRCh38]
Chr17:68171203 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*3173C>A single nucleotide variant Andersen Tawil syndrome [RCV001126179]|Atrial fibrillation, familial, 9 [RCV001126180]|Short QT syndrome 3 [RCV001126178] Chr17:70179496 [GRCh38]
Chr17:68175637 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*2508G>A single nucleotide variant Andersen Tawil syndrome [RCV001125089]|Atrial fibrillation, familial, 9 [RCV001125090]|Short QT syndrome 3 [RCV001125088] Chr17:70178831 [GRCh38]
Chr17:68174972 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.-217+1029_422del deletion Andersen Tawil syndrome [RCV001217669] Chr17:70170730..70175461 [GRCh38]
Chr17:68166871..68171602 [GRCh37]
Chr17:17q24.3
pathogenic
NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys) single nucleotide variant Andersen Tawil syndrome [RCV001064131] Chr17:70175473 [GRCh38]
Chr17:68171614 [GRCh37]
Chr17:17q24.3
likely pathogenic
NM_000891.3(KCNJ2):c.532G>A (p.Ala178Thr) single nucleotide variant Andersen Tawil syndrome [RCV001224769] Chr17:70175571 [GRCh38]
Chr17:68171712 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*1320C>T single nucleotide variant Andersen Tawil syndrome [RCV001122096]|Atrial fibrillation, familial, 9 [RCV001122095]|Short QT syndrome 3 [RCV001122094] Chr17:70177643 [GRCh38]
Chr17:68173784 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.578T>C (p.Leu193Pro) single nucleotide variant Andersen Tawil syndrome [RCV001199329] Chr17:70175617 [GRCh38]
Chr17:68171758 [GRCh37]
Chr17:17q24.3
pathogenic
NM_000891.3(KCNJ2):c.*1465A>G single nucleotide variant Andersen Tawil syndrome [RCV001127961]|Atrial fibrillation, familial, 9 [RCV001127962]|Short QT syndrome 3 [RCV001127960] Chr17:70177788 [GRCh38]
Chr17:68173929 [GRCh37]
Chr17:17q24.3
benign|uncertain significance
NM_000891.3(KCNJ2):c.*2328T>G single nucleotide variant Andersen Tawil syndrome [RCV001128059]|Atrial fibrillation, familial, 9 [RCV001128060]|Short QT syndrome 3 [RCV001128058] Chr17:70178651 [GRCh38]
Chr17:68174792 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*2339G>C single nucleotide variant Andersen Tawil syndrome [RCV001128062]|Atrial fibrillation, familial, 9 [RCV001128061]|Short QT syndrome 3 [RCV001128063] Chr17:70178662 [GRCh38]
Chr17:68174803 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*2753T>C single nucleotide variant Andersen Tawil syndrome [RCV001128154]|Atrial fibrillation, familial, 9 [RCV001128152]|Short QT syndrome 3 [RCV001128153] Chr17:70179076 [GRCh38]
Chr17:68175217 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.647A>T (p.Asn216Ile) single nucleotide variant Andersen Tawil syndrome [RCV001205252] Chr17:70175686 [GRCh38]
Chr17:68171827 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.-361G>C single nucleotide variant Andersen Tawil syndrome [RCV001123305]|Atrial fibrillation, familial, 9 [RCV001123306]|Short QT syndrome 3 [RCV001127381] Chr17:70169557 [GRCh38]
Chr17:68165698 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.389C>T (p.Thr130Met) single nucleotide variant Andersen Tawil syndrome [RCV001245477] Chr17:70175428 [GRCh38]
Chr17:68171569 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.394G>A (p.Ala132Thr) single nucleotide variant Andersen Tawil syndrome [RCV001214087] Chr17:70175433 [GRCh38]
Chr17:68171574 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.*1361C>A single nucleotide variant Andersen Tawil syndrome [RCV001124871]|Atrial fibrillation, familial, 9 [RCV001124873]|Short QT syndrome 3 [RCV001124872] Chr17:70177684 [GRCh38]
Chr17:68173825 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.1211C>G (p.Pro404Arg) single nucleotide variant Andersen Tawil syndrome [RCV001127603]|Atrial fibrillation, familial, 9 [RCV001127602]|Short QT syndrome 3 [RCV001125507] Chr17:70176250 [GRCh38]
Chr17:68172391 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.322C>T (p.Leu108=) single nucleotide variant not provided [RCV001253862] Chr17:70175361 [GRCh38]
Chr17:68171502 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.83A>G (p.Asn28Ser) single nucleotide variant Brugada syndrome [RCV001254772] Chr17:70175122 [GRCh38]
Chr17:68171263 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del) deletion Andersen Tawil syndrome [RCV001260872]|Andersen Tawil syndrome [RCV001379609] Chr17:70175978..70175983 [GRCh38]
Chr17:68172119..68172124 [GRCh37]
Chr17:17q24.3
pathogenic|likely pathogenic
NM_000891.3(KCNJ2):c.102G>T (p.Lys34Asn) single nucleotide variant Andersen Tawil syndrome [RCV001258210] Chr17:70175141 [GRCh38]
Chr17:68171282 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.291_293del (p.Phe99del) deletion Andersen Tawil syndrome [RCV001296016] Chr17:70175329..70175331 [GRCh38]
Chr17:68171470..68171472 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.637C>G (p.Arg213Gly) single nucleotide variant none provided [RCV001289621] Chr17:70175676 [GRCh38]
Chr17:68171817 [GRCh37]
Chr17:17q24.3
likely pathogenic
NM_000891.3(KCNJ2):c.499G>T (p.Val167Leu) single nucleotide variant Andersen Tawil syndrome [RCV001298727] Chr17:70175538 [GRCh38]
Chr17:68171679 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.799A>G (p.Ile267Val) single nucleotide variant not provided [RCV001310376] Chr17:70175838 [GRCh38]
Chr17:68171979 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.1260C>G (p.Pro420=) single nucleotide variant Andersen Tawil syndrome [RCV001396908] Chr17:70176299 [GRCh38]
Chr17:68172440 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.13C>T (p.Arg5Ter) single nucleotide variant Andersen Tawil syndrome [RCV001374300] Chr17:70175052 [GRCh38]
Chr17:68171193 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.784T>G (p.Phe262Val) single nucleotide variant Andersen Tawil syndrome [RCV001324510] Chr17:70175823 [GRCh38]
Chr17:68171964 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.128G>A (p.Cys43Tyr) single nucleotide variant Andersen Tawil syndrome [RCV001362741] Chr17:70175167 [GRCh38]
Chr17:68171308 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.81A>C (p.Ala27=) single nucleotide variant Andersen Tawil syndrome [RCV001433343] Chr17:70175120 [GRCh38]
Chr17:68171261 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.1212del (p.Asp405fs) deletion Andersen Tawil syndrome [RCV001317828] Chr17:70176251 [GRCh38]
Chr17:68172392 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.659G>A (p.Ser220Asn) single nucleotide variant Andersen Tawil syndrome [RCV001301689] Chr17:70175698 [GRCh38]
Chr17:68171839 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.238C>T (p.Arg80Cys) single nucleotide variant Andersen Tawil syndrome [RCV001346111] Chr17:70175277 [GRCh38]
Chr17:68171418 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.523A>C (p.Ile175Leu) single nucleotide variant Andersen Tawil syndrome [RCV001370018] Chr17:70175562 [GRCh38]
Chr17:68171703 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.922A>T (p.Thr308Ser) single nucleotide variant Andersen Tawil syndrome [RCV001367320] Chr17:70175961 [GRCh38]
Chr17:68172102 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.75A>C (p.Ala25=) single nucleotide variant Andersen Tawil syndrome [RCV001396286] Chr17:70175114 [GRCh38]
Chr17:68171255 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.14G>A (p.Arg5Gln) single nucleotide variant Andersen Tawil syndrome [RCV001361201] Chr17:70175053 [GRCh38]
Chr17:68171194 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.5_6insAAGTGTGCGAACCAACCGCTA (p.Val4_Ser10dup) insertion Andersen Tawil syndrome [RCV001369686] Chr17:70175044..70175045 [GRCh38]
Chr17:68171185..68171186 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.239G>A (p.Arg80His) single nucleotide variant Andersen Tawil syndrome [RCV001365827] Chr17:70175278 [GRCh38]
Chr17:68171419 [GRCh37]
Chr17:17q24.3
uncertain significance
NM_000891.3(KCNJ2):c.675T>C (p.Ala225=) single nucleotide variant Andersen Tawil syndrome [RCV001439841] Chr17:70175714 [GRCh38]
Chr17:68171855 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.282G>A (p.Leu94=) single nucleotide variant Andersen Tawil syndrome [RCV001446928] Chr17:70175321 [GRCh38]
Chr17:68171462 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.48A>G (p.Glu16=) single nucleotide variant Andersen Tawil syndrome [RCV001417497] Chr17:70175087 [GRCh38]
Chr17:68171228 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.864C>T (p.Asp288=) single nucleotide variant Andersen Tawil syndrome [RCV001416298] Chr17:70175903 [GRCh38]
Chr17:68172044 [GRCh37]
Chr17:17q24.3
likely benign
NC_000017.10:g.(?_68166871_68171602del deletion Andersen Tawil syndrome [RCV001386820]   pathogenic
NM_000891.3(KCNJ2):c.321T>C (p.Ala107=) single nucleotide variant Andersen Tawil syndrome [RCV001416836] Chr17:70175360 [GRCh38]
Chr17:68171501 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.102G>A (p.Lys34=) single nucleotide variant Andersen Tawil syndrome [RCV001436915] Chr17:70175141 [GRCh38]
Chr17:68171282 [GRCh37]
Chr17:17q24.3
likely benign
NM_000891.3(KCNJ2):c.597C>T (p.Ala199=) single nucleotide variant Andersen Tawil syndrome [RCV001430865] Chr17:70175636 [GRCh38]
Chr17:68171777 [GRCh37]
Chr17:17q24.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6263 AgrOrtholog
COSMIC KCNJ2 COSMIC
Ensembl Genes ENSG00000123700 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000243457 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000441848 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000243457 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000535240 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.1400 UniProtKB/Swiss-Prot
GTEx ENSG00000123700 GTEx
HGNC ID HGNC:6263 ENTREZGENE
Human Proteome Map KCNJ2 Human Proteome Map
InterPro Ig_E-set UniProtKB/Swiss-Prot
  IRK_C UniProtKB/Swiss-Prot
  K_chnl_inward-rec_Kir UniProtKB/Swiss-Prot
  K_chnl_inward-rec_Kir2.1 UniProtKB/Swiss-Prot
  K_chnl_inward-rec_Kir_cyto UniProtKB/Swiss-Prot
  K_chnl_inward-rec_Kir_N UniProtKB/Swiss-Prot
  Kir_TM UniProtKB/Swiss-Prot
KEGG Report hsa:3759 UniProtKB/Swiss-Prot
NCBI Gene 3759 ENTREZGENE
OMIM 170390 OMIM
  600681 OMIM
  609622 OMIM
  613980 OMIM
PANTHER PTHR11767 UniProtKB/Swiss-Prot
  PTHR11767:SF43 UniProtKB/Swiss-Prot
Pfam IRK UniProtKB/Swiss-Prot
  IRK_C UniProtKB/Swiss-Prot
  IRK_N UniProtKB/Swiss-Prot
PharmGKB KCNJ2 RGD, PharmGKB
PIRSF GIRK_kir UniProtKB/Swiss-Prot
PRINTS KIR21CHANNEL UniProtKB/Swiss-Prot
  KIRCHANNEL UniProtKB/Swiss-Prot
Superfamily-SCOP SSF81296 UniProtKB/Swiss-Prot
UniProt KCNJ2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary O15110 UniProtKB/Swiss-Prot
  P48049 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-23 KCNJ2  potassium inwardly rectifying channel subfamily J member 2  KCNJ2  potassium voltage-gated channel subfamily J member 2  Symbol and/or name change 5135510 APPROVED
2016-02-10 KCNJ2  potassium voltage-gated channel subfamily J member 2    potassium channel, inwardly rectifying subfamily J, member 2  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNJ2  potassium channel, inwardly rectifying subfamily J, member 2    potassium inwardly-rectifying channel, subfamily J, member 2  Symbol and/or name change 5135510 APPROVED
2011-08-16 KCNJ2  potassium inwardly-rectifying channel, subfamily J, member 2  KCNJ2  potassium inwardly-rectifying channel, subfamily J, member 2  Symbol and/or name change 5135510 APPROVED