ClinVar Miner

Variants in gene KCNJ2

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
49 31 332 155 80 53 572

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Andersen Tawil syndrome; Short QT syndrome type 3 29 10 171 116 10 0 336
Andersen Tawil syndrome 23 7 90 3 37 7 162
not provided 16 12 61 18 45 0 149
Cardiovascular phenotype 3 3 36 72 10 0 124
Short QT syndrome type 3 4 0 59 3 35 0 101
Atrial fibrillation, familial, 9 1 1 80 5 12 0 97
not specified 2 0 7 23 12 0 44
Congenital long QT syndrome 0 0 1 0 0 42 43
Andersen Tawil syndrome; Short QT syndrome type 3; Atrial fibrillation, familial, 9 2 1 29 2 2 1 37
Short QT syndrome 0 0 20 0 2 1 23
Familial atrial fibrillation 0 0 20 0 2 0 22
KCNJ2-related condition 0 1 1 2 1 0 5
Long QT syndrome 0 0 4 0 0 0 4
Cardiac arrhythmia 1 0 0 0 1 1 3
Ventricular tachycardia 0 0 0 0 0 3 3
Inborn genetic diseases 1 0 1 0 0 0 2
Andersen Tawil syndrome; Short QT syndrome type 1; Atrial fibrillation, familial, 1 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
Familial periodic paralysis 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 0 0 1 0 0 0 1
SUDDEN INFANT DEATH SYNDROME 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: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 29 10 171 116 10 0 336
GeneDx 14 10 45 31 48 0 148
Ambry Genetics 4 3 37 72 10 0 126
Illumina Laboratory Services, Illumina 0 0 100 6 37 0 119
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 49 49
Fulgent Genetics, Fulgent Genetics 2 0 29 2 2 0 35
OMIM 16 0 0 0 0 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 6 2 1 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 1 4 5 0 11
CeGaT Center for Human Genetics Tuebingen 0 0 3 3 5 0 11
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 5 1 5 0 0 0 11
PreventionGenetics, part of Exact Sciences 0 1 1 2 3 0 7
GeneReviews 0 0 0 0 0 7 7
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 1 3 1 1 0 7
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 3 1 2 0 0 0 6
Blueprint Genetics 2 1 2 0 0 0 5
AiLife Diagnostics, AiLife Diagnostics 0 0 5 0 0 0 5
Athena Diagnostics Inc 2 0 1 0 1 0 4
Mayo Clinic Laboratories, Mayo Clinic 1 0 3 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 3 0 0 0 0 0 3
Revvity Omics, Revvity 1 0 2 0 0 0 3
Clinical Genetics, Academic Medical Center 1 0 1 0 1 0 3
Mendelics 0 1 1 0 1 0 3
Eurofins Ntd Llc (ga) 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 3 0 0 0 3
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 1 1 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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 1 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Dept of Medical Biology, Uskudar University 0 0 2 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 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
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 0 1
Robert's Program, Boston Children's Hospital 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
3billion 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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