ClinVar Miner

Variants in gene KCNQ1

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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 risk factor not provided total
291 188 446 303 100 1 342 1206

Condition and significance breakdown #

Total conditions: 44
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Long QT syndrome 161 52 244 104 25 0 0 564
not provided 157 86 91 64 25 0 30 418
Arrhythmia 16 13 121 135 22 0 0 307
Congenital long QT syndrome 8 11 0 0 0 0 276 289
Long QT syndrome 1 83 37 71 22 20 0 24 242
not specified 5 2 50 85 40 0 0 169
Cardiovascular phenotype 43 17 29 23 8 0 0 120
Jervell and Lange-Nielsen syndrome 1 13 1 57 17 19 0 4 111
Atrial fibrillation, familial, 3 5 0 61 25 8 0 0 99
Short QT syndrome 2 3 0 40 16 40 0 0 99
Romano-Ward syndrome 1 0 33 25 6 0 0 65
Jervell and Lange-Nielsen syndrome 1 0 16 5 0 0 0 22
short QT syndrome 0 0 15 5 1 0 1 22
Familial atrial fibrillation 0 0 16 5 0 0 0 21
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 5 1 1 0 4 0 0 11
none provided 1 0 2 5 3 0 0 11
Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1 4 1 2 0 0 0 0 7
SUDDEN INFANT DEATH SYNDROME 0 1 1 0 0 0 3 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
Conduction disorder of the heart 1 0 1 0 0 0 0 2
Inborn genetic diseases 0 1 1 0 0 0 0 2
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
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
Congenital long QT syndrome; Jervell and Lange-Nielsen syndrome 1 0 0 0 0 0 0 1
Hearing impairment 0 0 1 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 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
Striatal degeneration, autosomal dominant 1 0 0 1 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: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 158 38 222 121 25 0 0 564
GeneDx 152 67 72 65 45 0 2 403
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 311 311
Color Health, Inc 15 13 120 135 22 0 0 305
Ambry Genetics 41 18 30 23 8 0 0 120
Illumina Clinical Services Laboratory,Illumina 1 1 79 43 41 0 0 117
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 10 14 27 33 17 0 0 101
Integrated Genetics/Laboratory Corporation of America 23 4 10 8 8 0 0 53
Stanford Center for Inherited Cardiovascular Disease, Stanford University 19 18 10 0 0 0 0 47
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 29 10 8 0 0 0 0 47
OMIM 46 0 0 0 0 1 0 46
CeGaT Praxis fuer Humangenetik Tuebingen 3 3 11 13 0 0 0 30
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 28 28
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 10 8 4 0 3 0 0 25
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 1 5 7 5 0 0 23
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 12 2 4 0 0 19
CSER _CC_NCGL, University of Washington 1 1 12 3 0 0 0 17
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 16 0 0 0 0 0 0 16
Fulgent Genetics,Fulgent Genetics 5 1 9 0 0 0 0 15
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 7 5 2 0 0 0 0 14
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 1 2 5 1 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 2 4 3 1 0 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
PreventionGenetics, PreventionGenetics 0 0 0 2 4 0 0 6
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 2 2 2 0 0 0 0 6
Athena Diagnostics Inc 0 0 3 0 2 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 1 1 0 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 1 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 2 0 0 0 0 3
Gharavi Laboratory,Columbia University 3 0 0 0 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 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
Health in Code S.L. 0 1 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 National Research Centre 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
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
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 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
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 0 1 0 0 0 0 1

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