ClinVar Miner

Variants in gene CACNA1A

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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
381 297 2064 1655 316 78 4155

Condition and significance breakdown #

Total conditions: 82
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 212 70 1040 1337 116 0 2775
not provided 161 91 1101 408 234 6 1850
Inborn genetic diseases 32 9 273 164 45 0 523
not specified 0 0 110 204 117 0 389
Developmental and epileptic encephalopathy, 42 35 66 96 2 20 0 210
CACNA1A-related disorder 9 20 52 95 8 2 186
Episodic ataxia type 2 48 37 37 2 22 19 152
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 8 3 39 14 1 6 70
Spinocerebellar ataxia type 6 14 12 18 0 19 2 63
Migraine, familial hemiplegic, 1 14 7 16 0 19 14 61
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52 12 19 0 0 0 0 31
Intellectual disability 1 0 5 6 0 0 11
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1 0 0 0 0 0 9 9
CACNA1A-related complex neurodevelopmental disorder 4 2 2 0 0 0 8
Familial hemiplegic migraine 0 0 0 0 0 8 8
Autosomal dominant CACNA1A-related disorders 1 5 0 0 0 0 6
Hereditary episodic ataxia 3 1 1 0 0 0 5
Neurodevelopmental delay 2 3 0 0 0 0 5
See cases 1 1 3 0 0 0 5
Seizure 1 3 1 0 0 0 5
Tip-toe gait 0 3 2 0 0 0 5
Cerebellar ataxia 2 0 2 0 0 0 4
Episodic ataxia type 2; Migraine, familial hemiplegic, 1 0 1 1 0 0 2 4
Paroxysmal central nervous system disorders 2 0 2 0 0 0 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Developmental and epileptic encephalopathy 1 1 1 0 0 0 3
Developmental and epileptic encephalopathy, 1 0 0 3 0 0 0 3
Global developmental delay 0 2 1 0 0 0 3
Alternating hemiplegia of childhood 1 1 0 1 0 0 0 2
Autism spectrum disorder 0 0 0 2 0 0 2
Familial cancer of breast 0 0 0 0 0 2 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 1 0 1 0 0 0 2
Neurodevelopmental abnormality 0 1 0 1 0 0 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 2 2
Spinocerebellar ataxia type 6; Developmental and epileptic encephalopathy, 42 0 2 0 0 0 0 2
Abnormality of the nervous system 1 0 0 0 0 0 1
Amyotrophic lateral sclerosis; Cerebellar ataxia; Chorea 0 0 1 0 0 0 1
Ataxia 1 0 0 0 0 0 1
Ataxia _ Neurologic (child onset); Non-progressive congenital cerebellar ataxia 1 0 0 0 0 0 1
Auditory neuropathy 1 0 0 0 0 0 1
Bulbar palsy; Recurrent respiratory infections; Epileptic encephalopathy 0 1 0 0 0 0 1
CACNA1A-associated disorder 1 0 0 0 0 0 1
CACNA1A-associated disorders 0 1 0 0 0 0 1
Cerebellar ataxia; Dysarthria; Intention tremor; Spastic paraparesis; Mild global developmental delay 0 1 0 0 0 0 1
Cerebellar ataxia; Intellectual disability; Cerebellar atrophy 0 1 0 0 0 0 1
Cerebral palsy 0 1 0 0 0 0 1
Chronic and progressive ataxia 1 0 0 0 0 0 1
Delayed gross motor development 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 2 0 1 0 0 0 0 1
Disorder of sexual differentiation 1 0 0 0 0 0 1
EEG with focal epileptiform discharges 0 0 0 0 1 0 1
Epilepsy 0 0 1 0 0 0 1
Epileptic encephalopathy 0 0 1 0 0 0 1
Episodic ataxia type 2; Familial hemiplegic migraine; Developmental and epileptic encephalopathy, 42 0 0 0 0 0 1 1
Episodic ataxia type 2; Gait ataxia; Epileptic encephalopathy 1 0 0 0 0 0 1
Episodic ataxia type 2; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 0 0 0 0 0 1 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6 0 1 0 0 0 0 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 0 0 0 0 1 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Idiopathic hemiconvulsion-hemiplegia syndrome 0 0 0 0 0 1 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Lennox-Gastaut syndrome; CACNA1A-related complex neurodevelopmental disorder 0 0 0 0 0 1 1
Episodic ataxia, type 2, and epilepsy 1 0 0 0 0 0 1
Febrile seizure (within the age range of 3 months to 6 years) 0 1 0 0 0 0 1
Focal epilepsy 0 1 0 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Global developmental delay; Enlarged cisterna magna 0 1 0 0 0 0 1
Global developmental delay; Strabismus; Generalized hypotonia 0 1 0 0 0 0 1
Hereditary ataxia 0 0 1 0 0 0 1
Hereditary cerebellar ataxia 0 0 1 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Migraine, familial hemiplegic, 1; Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 0 0 0 0 1 1
Migraine, sporadic hemiplegic, with progressive cerebellar ataxia 1 0 0 0 0 0 1
SUDDEN INFANT DEATH SYNDROME 0 0 1 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
Spastic ataxia 0 0 1 0 0 0 1
Sporadic hemiplegic migraine 1 0 0 0 0 0 1
Subependymal giant-cell astrocytoma 0 0 1 0 0 0 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1
Undetermined early-onset epileptic encephalopathy 0 0 1 0 0 0 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1
Vascular dementia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 149
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 210 69 1040 1338 116 0 2773
GeneDx 111 41 760 327 223 0 1461
Ambry Genetics 32 9 273 164 45 0 523
CeGaT Center for Human Genetics Tuebingen 22 27 186 175 14 0 424
Athena Diagnostics 44 17 180 53 99 0 393
PreventionGenetics, part of Exact Sciences 5 14 47 96 24 0 186
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 7 69 47 1 0 139
Breakthrough Genomics, Breakthrough Genomics 0 0 7 29 80 0 116
Eurofins Ntd Llc (ga) 1 0 68 8 22 0 99
Mayo Clinic Laboratories, Mayo Clinic 8 4 21 17 40 0 90
Revvity Omics, Revvity 6 2 57 0 0 0 65
Genetic Services Laboratory, University of Chicago 7 5 9 25 2 0 48
Fulgent Genetics, Fulgent Genetics 4 0 29 13 1 0 47
Institute of Human Genetics, University of Leipzig Medical Center 10 14 19 0 1 0 43
UniProtKB/Swiss-Prot 0 0 0 1 0 38 39
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 17 20 0 38
Baylor Genetics 7 5 26 0 0 0 36
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 21 13 0 35
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 3 2 0 27 0 33
Wendy Chung Laboratory, Boston Children's Hospital 12 19 0 0 0 0 31
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 15 11 1 0 0 0 27
OMIM 25 0 0 0 0 0 25
Neuberg Centre For Genomic Medicine, NCGM 1 0 23 0 0 0 24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 4 12 0 0 0 24
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 2 5 7 7 0 23
3billion 9 8 5 0 0 0 22
Mendelics 6 4 4 2 4 0 20
Genome-Nilou Lab 0 0 0 0 19 0 19
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 1 2 15 0 19
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 14 5 0 19
GenomeConnect - Brain Gene Registry 0 0 0 0 0 18 18
New York Genome Center 0 0 17 0 0 0 17
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 5 3 6 0 0 16
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 4 7 0 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 3 10 0 15
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 15 15
MVZ Martinsried, Medicover Genetics 4 3 7 0 0 0 14
MGZ Medical Genetics Center 2 3 7 0 0 0 12
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 4 0 1 1 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 6 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 8 0 0 0 10
O&I group, Department of Genetics, University Medical Center of Groningen 3 2 5 0 0 0 10
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 2 0 7 0 0 0 9
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 2 5 1 0 9
Variantyx, Inc. 2 7 0 0 0 0 9
Clinical Genetics Laboratory, Skane University Hospital Lund 4 2 2 0 0 0 8
GeneReviews 0 0 0 0 0 8 8
GenomeConnect, ClinGen 0 0 0 0 0 8 8
Illumina Laboratory Services, Illumina 2 2 4 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 5 1 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 6 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 3 3 0 0 0 7
Institute of Human Genetics Munich, TUM University Hospital 3 4 0 0 0 0 7
Genomics England Pilot Project, Genomics England 1 5 0 0 0 0 6
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 4 0 0 0 0 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 5 0 0 6
Pediatric Department, Xiangya Hospital, Central South University 2 4 0 0 0 0 6
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 1 3 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 1 1 0 0 0 5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 3 0 0 5
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 3 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 4 0 1 0 0 0 5
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 3 0 0 0 5
MVZ Medizinische Genetik Mainz 1 3 1 0 0 0 5
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 2 1 0 0 0 5
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino 0 3 2 0 0 0 5
Solve-RD Consortium 0 5 0 0 0 0 5
Undiagnosed Diseases Network, NIH 1 4 0 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 1 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 2 1 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 2 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 0 4
Center of Human Genetics, Hôpital Erasme 2 1 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 3 0 0 0 0 0 3
E. Rossignol Lab, CHU Ste-Justine, Universite de Montreal 2 1 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 2 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 1 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 2 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 1 1 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 0 2
Department of Neurology, Zibo Changguo Hospital 1 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomic Medicine Lab, University of California San Francisco 0 2 0 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, University of Wuerzburg 0 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Navigene Genetic Science Pvt Ltd 0 0 2 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 1 0 0 0 2
Pediatrics, MediClubGeorgia 1 1 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 1 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Brais Lab, Montreal Neurological Institute 0 1 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 1 0 0 0 0 1
Care4Rare-SOLVE, CHEO 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 1 0 0 0 1
Division of Genomics, Kyushu university 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Human Developmental Genetics, Institut Pasteur 1 0 0 0 0 0 1
ISCA site 1 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 0 0 0 1
Myllykangas group, University of Helsinki 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 1 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu 0 1 0 0 0 0 1
Robert's Program, Boston Children's Hospital 0 0 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 1

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