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
232 145 229 164 48 1 341 842

Condition and significance breakdown #

Total conditions: 31
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 152 82 83 9 3 0 29 329
Long QT syndrome 78 30 121 84 26 0 0 315
Congenital long QT syndrome 0 0 0 0 0 0 276 276
not specified 3 2 36 77 36 0 0 143
Cardiovascular phenotype 38 20 31 23 8 0 0 120
Long QT syndrome 1 64 19 9 0 0 0 0 89
Romano-Ward syndrome 1 6 33 36 6 0 0 82
Jervell and Lange-Nielsen syndrome 2 3 33 36 7 0 0 81
short QT syndrome 0 0 32 36 8 0 1 77
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
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
Brugada syndrome 0 0 1 0 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
Prolonged QT interval 0 1 0 0 0 0 0 1
Torsades de pointes 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 52
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 148 66 72 54 25 0 2 367
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 311 311
Invitae 74 20 82 47 21 0 0 244
Ambry Genetics 36 20 31 23 8 0 0 118
Illumina Clinical Services Laboratory,Illumina 1 1 35 37 8 0 0 79
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 8 21 27 17 0 0 76
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
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 28 28
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 18 3 6 0 0 0 0 27
Integrated Genetics/Laboratory Corporation of America 12 1 6 3 4 0 0 26
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 12 2 4 0 0 19
CSER_CC_NCGL; University of Washington Medical Center 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 5 1 9 0 0 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 1 1 2 3 0 0 10
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 4 4 1 0 0 0 0 9
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 2 5 1 0 0 8
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 3 2 2 0 1 0 0 8
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 3 4 0 0 0 0 0 7
PreventionGenetics 0 0 0 2 4 0 0 6
Biotechnology Research Center,Pasteur Institute of Iran 3 2 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 0 4
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
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 2 1 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 2 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
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 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 for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 1 0 0 0 2
Athena Diagnostics Inc 0 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 0 1
Community Genetics, University of British Columbia 0 0 0 0 0 0 1 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 0 0 0 0 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
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
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
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.