ClinVar Miner

Variants in gene KCNQ1

See also:
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 risk factor not provided total
243 156 249 209 73 1 341 942

Condition and significance breakdown #

Total conditions: 40
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 156 85 86 84 45 0 29 441
Long QT syndrome 89 37 141 63 7 0 0 326
Congenital long QT syndrome 3 10 0 0 0 0 276 283
not specified 5 2 41 83 37 0 0 157
Cardiovascular phenotype 40 19 30 23 8 0 0 120
Long QT syndrome 1 71 24 10 0 2 0 0 103
Jervell and Lange-Nielsen syndrome 0 1 33 36 7 0 0 77
short QT syndrome 0 0 32 36 8 0 1 77
Romano-Ward syndrome 1 0 33 36 6 0 0 76
Familial atrial fibrillation 0 0 33 36 6 0 0 75
Arrhythmia 0 1 21 21 16 0 0 59
Long QT syndrome, LQT1 subtype 1 1 0 0 0 0 24 26
Jervell and Lange-Nielsen syndrome 1 13 0 0 0 0 0 4 17
Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome 2 5 1 9 0 0 0 0 15
Cardiac arrhythmia 3 0 1 0 4 0 0 8
Atrial fibrillation, familial, 3 5 0 0 0 0 0 0 5
SUDDEN INFANT DEATH SYNDROME 0 1 1 0 0 0 3 5
Short QT syndrome 2 3 0 2 0 0 0 0 5
Atrial fibrillation 0 0 0 0 0 0 4 4
Long QT syndrome 1/2, digenic 3 0 0 0 0 0 0 3
Wolff-Parkinson-White pattern 0 2 1 0 0 0 0 3
KCNQ1-Related Disorders 1 0 1 0 0 0 0 2
Long QT syndrome 1, recessive 2 0 0 0 0 0 0 2
Prolonged QT interval 1 1 0 0 0 0 0 2
Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome 1 1 0 0 0 0 0 2
See cases 1 0 0 1 0 0 0 2
Acquired susceptibility to long QT syndrome 1 0 0 0 0 0 1 0 1
Autosomal dominant KCNQ1-related disease 0 0 1 0 0 0 0 1
Brugada syndrome 0 0 1 0 0 0 0 1
Cardiomyopathy 0 0 0 0 1 0 0 1
Conduction disorder of the heart 0 0 1 0 0 0 0 1
Congenital long QT syndrome; Jervell and Lange-Nielsen syndrome 1 0 0 0 0 0 0 1
Hypertrophic cardiomyopathy 0 0 0 1 0 0 0 1
Long QT syndrome 2 1 0 0 0 0 0 0 1
Marfan syndrome 0 1 0 0 0 0 0 1
Polyhydramnios; High palate; Generalized hypotonia; Neonatal hypotonia; Decreased fetal movement; Toe clinodactyly; Abnormality of the cerebral white matter; Abnormality of the nares; Postnatal microcephaly; Diffuse white matter abnormalities; Generalized neonatal hypotonia; Enlarged naris; Congenital microcephaly 0 1 0 0 0 0 0 1
Romano-Ward syndrome; Congenital long QT syndrome; Jervell and Lange-Nielsen syndrome 0 1 0 0 0 0 0 1
Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome; Rare genetic deafness 0 1 0 0 0 0 0 1
Torsades de pointes 0 0 0 0 0 0 1 1
Ventricular fibrillation 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 152 67 72 65 45 0 2 403
Invitae 84 23 101 87 25 0 0 320
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 311 311
Ambry Genetics 38 19 30 23 8 0 0 118
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 6 13 26 31 17 0 0 93
Illumina Clinical Services Laboratory,Illumina 1 1 35 37 8 0 0 79
Color 0 1 20 21 16 0 0 58
Stanford Center for Inherited Cardiovascular Disease, Stanford University 19 18 10 0 0 0 0 47
OMIM 46 0 0 0 0 1 0 46
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 19 4 6 0 0 0 0 29
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 28 28
Integrated Genetics/Laboratory Corporation of America 12 1 3 6 4 0 0 26
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 12 2 4 0 0 19
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 6 7 4 0 2 0 0 19
CSER _CC_NCGL, University of Washington 1 1 12 3 0 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 1 3 3 5 0 0 16
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 16 0 0 0 0 0 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 7 7 0 0 0 16
Fulgent Genetics,Fulgent Genetics 5 1 9 0 0 0 0 15
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 1 2 5 1 0 0 10
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 4 4 1 0 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 2 0 0 0 0 0 8
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 3 4 0 0 0 0 0 7
PreventionGenetics,PreventionGenetics 0 0 0 2 4 0 0 6
Athena Diagnostics Inc 0 0 3 0 2 0 0 5
Biotechnology Research Center,Pasteur Institute of Iran 3 2 0 0 0 0 0 5
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 2 0 0 2 1 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 2 0 0 0 4
Medical Research Institute,Tokyo Medical and Dental University 0 4 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 0 0 4
Mendelics 1 0 0 0 2 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 1 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 0 0 0 0 0 0 3
Gharavi Laboratory,Columbia University 3 0 0 0 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 1 0 0 0 0 2
Center for Medical Genetics Ghent,University of Ghent 0 2 0 0 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 1 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 0 2
Center for Human Genetics,University of Leuven 1 0 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 0 2
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 1 1 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Community Genetics, University of British Columbia 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 1 0 0 0 0 0 1
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 0 1
Translational Genomics Laboratory,University of Maryland School of Medicine 0 1 0 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Division of Laboratory Medicine and Clinical Genetics,Chiba University Hospital 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Akbari laboratory,Tarbiat Modares University 0 1 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 0 0 0 0 1
Swiss DNAlysis 1 0 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.