ClinVar Miner

Variants in gene KCNJ2

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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
44 24 200 65 52 49 349

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Andersen Tawil syndrome 27 4 87 3 38 0 158
Andersen Tawil syndrome; Short QT syndrome 3 18 7 69 41 10 0 145
Short QT syndrome 3 1 0 61 3 36 0 101
Atrial fibrillation, familial, 9 1 0 83 5 12 0 100
not provided 12 12 30 14 3 0 70
Congenital long QT syndrome 0 0 0 0 0 42 42
not specified 2 0 6 21 12 0 41
short QT syndrome 0 0 20 0 2 1 23
Familial atrial fibrillation 0 0 20 0 2 0 22
Cardiovascular phenotype 0 2 5 11 2 0 20
Ventricular tachycardia 0 0 0 0 0 3 3
none provided 0 1 1 0 1 0 3
Andersen Tawil syndrome; Short QT syndrome 3; Atrial fibrillation, familial, 9 1 1 0 0 0 0 2
Long QT syndrome 0 0 2 0 0 0 2
Arrhythmia 0 0 0 0 0 1 1
Atrial fibrillation 0 0 1 0 0 1 1
Brugada syndrome 0 0 1 0 0 0 1
Cardiac arrhythmia 0 0 0 0 1 0 1
Familial periodic paralysis 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Supraventricular tachycardia 1 0 0 0 0 0 1
Ventricular fibrillation 0 0 1 0 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 18 7 69 47 10 0 151
Illumina Clinical Services Laboratory,Illumina 0 0 103 6 38 0 122
GeneDx 11 11 22 21 11 0 76
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 49 49
Ambry Genetics 0 2 5 11 2 0 20
OMIM 14 0 0 0 0 0 14
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 4 0 5 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 1 3 1 1 0 7
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 1 3 1 1 0 7
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 5 0 6
GeneReviews 6 0 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 2 0 0 6
Blueprint Genetics 2 1 2 0 0 0 5
Athena Diagnostics Inc 2 0 1 0 1 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 3 0 0 0 0 0 3
Mendelics 0 2 0 0 1 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 3 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 2 0 0 0 2
PreventionGenetics, PreventionGenetics 0 0 0 0 2 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 0 0 0 1

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