ClinVar Miner

Variants in gene ANK2

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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
52 45 2053 1459 295 57 3497

Condition and significance breakdown #

Total conditions: 63
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Long QT syndrome 14 8 1076 762 102 1 1959
Cardiovascular phenotype 15 0 891 804 47 0 1751
not provided 17 19 571 252 181 2 984
Cardiac arrhythmia, ankyrin-B-related 5 6 280 64 96 4 413
not specified 0 0 63 164 119 0 317
ANK2-related disorder 0 2 32 46 11 0 91
Brugada syndrome 0 1 11 1 0 0 12
Cardiac arrhythmia 0 0 2 3 4 5 10
Congenital long QT syndrome 0 0 1 0 0 9 10
Complex neurodevelopmental disorder 0 2 4 0 0 1 7
Intellectual disability 0 0 1 6 0 0 7
Cardiomyopathy 0 0 2 3 1 0 6
Gastric cancer 0 0 0 0 0 6 6
Inborn genetic diseases 2 2 2 0 0 0 6
Nonpapillary renal cell carcinoma 0 0 0 0 0 6 6
ANK2-associated Neurodevelopmental Disorder 2 0 2 1 0 0 5
Hypertrophic cardiomyopathy 0 0 4 1 0 0 5
Meniere disease 0 0 5 0 0 0 5
Neurodevelopmental disorder 4 0 1 0 0 0 5
See cases 0 1 4 0 0 0 5
ANK2-related Autism 0 0 4 0 0 0 4
Autism spectrum disorder 1 0 1 2 0 0 4
Cholangiocarcinoma 0 0 0 0 0 3 3
Long QT syndrome 4 2 0 0 0 0 1 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 3 3
Primary dilated cardiomyopathy 0 0 1 1 1 0 3
Thymoma 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Wolff-Parkinson-White pattern 0 0 3 0 0 0 3
ANK-related Autism spectrum disorder and epilepsy 0 1 1 0 0 0 2
ANK2-associated Complex Neurodevelopmental Disorder 0 0 2 0 0 0 2
ANK2-associated disorder 0 2 0 0 0 0 2
Acute myeloid leukemia 0 0 0 0 0 2 2
Catecholaminergic polymorphic ventricular tachycardia 1 0 1 1 0 0 0 2
Conduction disorder of the heart 0 0 2 0 0 0 2
Congestive heart failure 0 0 0 2 0 0 2
Familial cancer of breast 0 0 0 0 0 2 2
Glioma susceptibility 1 0 0 0 0 0 2 2
Long QT syndrome 1 0 0 2 0 0 0 2
Lung cancer 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 2 2
Torsades de pointes 0 0 0 0 0 2 2
Ventricular tachycardia 0 0 1 1 0 0 2
ANK2-related epilepsy 0 1 0 0 0 0 1
Atrial fibrillation; Cardiomyopathy 0 0 0 0 1 0 1
Cardiac arrhythmia, ankyrin-B-related; Long QT syndrome 4; Autism spectrum disorder 0 0 0 0 0 1 1
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Channelopathy 0 0 1 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Death in infancy 1 0 0 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Familial dilated cardiomyopathy and peripheral neuropathy 0 0 0 0 1 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Ovarian cancer 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Sudden cardiac arrest 0 0 1 0 0 0 1
Sudden cardiac death 0 0 1 0 0 0 1
Supraventricular tachycardia 0 0 1 0 0 0 1
Ventricular fibrillation 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 89
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 14 5 1070 767 102 0 1958
Ambry Genetics 17 2 882 804 47 0 1752
GeneDx 15 12 469 218 196 0 910
Illumina Laboratory Services, Illumina 0 1 136 42 24 0 203
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 47 64 61 0 172
Fulgent Genetics, Fulgent Genetics 0 0 136 20 5 0 161
CeGaT Center for Human Genetics Tuebingen 1 2 39 83 17 0 142
PreventionGenetics, part of Exact Sciences 0 1 31 46 20 0 98
Breakthrough Genomics, Breakthrough Genomics 0 0 5 44 48 0 97
Genome-Nilou Lab 0 0 0 0 92 0 92
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 24 35 29 0 88
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 17 17 28 0 62
Clinical Genetics, Academic Medical Center 0 0 2 4 39 0 45
Mayo Clinic Laboratories, Mayo Clinic 0 0 14 11 17 0 42
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 15 11 11 0 37
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 32 32
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 11 18 0 31
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 16 11 0 28
AiLife Diagnostics, AiLife Diagnostics 0 3 19 0 0 0 22
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 8 8 5 0 21
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 18 18
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 16 1 0 0 17
Blueprint Genetics 0 1 12 1 0 0 14
New York Genome Center 0 0 13 0 0 0 13
Revvity Omics, Revvity 0 0 13 0 0 0 13
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 9 2 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 10 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 8 0 0 9
Eurofins Ntd Llc (ga) 0 0 6 2 0 0 8
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 6 0 0 7
Mendelics 0 0 2 2 2 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 2 0 0 0 6
3billion 0 3 2 0 0 0 5
Center for Computational Biology & Bioinformatics, University of California, San Diego 0 0 5 0 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 2 1 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 3 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 5
OMIM 4 0 1 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 3 0 4
Baylor Genetics 0 0 3 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 3 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 1 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 3 0 0 0 3
Medical Research Institute, Tokyo Medical and Dental University 0 3 0 0 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
Dept of Medical Biology, Uskudar University 0 0 1 1 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Helix 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 0 2 0 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 2 0 0 0 2
Phosphorus, Inc. 0 0 1 0 1 0 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 0 1 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Human Genetics, University of Leuven 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Genomeconnect - The Bow Foundation (GNAO1) 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Geschwind lab, University of California Los Angeles 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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