ClinVar Miner

Variants in gene CACNA1A

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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 not provided total
353 265 1863 1566 306 58 3846

Condition and significance breakdown #

Total conditions: 62
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 203 63 978 1258 115 0 2617
not provided 141 81 970 367 234 6 1667
Inborn genetic diseases 28 9 197 155 45 0 434
not specified 0 0 81 182 102 0 331
Developmental and epileptic encephalopathy, 42 29 55 90 2 20 0 189
CACNA1A-related disorder 8 19 50 95 8 1 181
Episodic ataxia type 2 48 34 37 2 22 19 149
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 6 3 38 14 1 6 67
Spinocerebellar ataxia type 6 15 11 16 0 19 2 60
Migraine, familial hemiplegic, 1 14 5 16 0 19 14 59
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52 12 19 0 0 0 0 31
Familial hemiplegic migraine 0 0 0 0 0 8 8
Intellectual disability 0 0 2 6 0 0 8
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1 0 0 0 0 0 7 7
CACNA1A-related complex neurodevelopmental disorder 3 1 1 0 0 0 5
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
Tip-toe gait 0 3 2 0 0 0 5
Cerebellar ataxia 2 0 2 0 0 0 4
Developmental and epileptic encephalopathy, 1 0 0 3 0 0 0 3
Global developmental delay 0 2 1 0 0 0 3
Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2 0 1 0 0 0 3
Seizure 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
Episodic ataxia type 2; Migraine, familial hemiplegic, 1 0 0 1 0 0 1 2
Neurodevelopmental abnormality 0 1 0 1 0 0 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 _ 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
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; 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, and epilepsy 1 0 0 0 0 0 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 cerebellar ataxia 0 0 1 0 0 0 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
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
Undetermined early-onset epileptic encephalopathy 0 0 1 0 0 0 1
Vascular dementia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 136
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 201 62 978 1259 115 0 2615
GeneDx 92 38 665 328 223 0 1345
Ambry Genetics 28 9 197 155 45 0 434
Athena Diagnostics 42 14 169 46 87 0 358
CeGaT Center for Human Genetics Tuebingen 18 24 163 142 11 0 358
PreventionGenetics, part of Exact Sciences 5 14 47 96 24 0 186
Breakthrough Genomics, Breakthrough Genomics 0 0 7 29 80 0 116
Eurofins Ntd Llc (ga) 1 0 68 8 22 0 99
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 7 40 20 1 0 80
Revvity Omics, Revvity 6 1 43 0 0 0 50
Genetic Services Laboratory, University of Chicago 7 5 8 25 2 0 47
Fulgent Genetics, Fulgent Genetics 4 0 29 13 1 0 47
UniProtKB/Swiss-Prot 0 0 0 1 0 38 39
Institute of Human Genetics, University of Leipzig Medical Center 9 10 19 0 1 0 38
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
Wendy Chung Laboratory, Boston Children's Hospital 12 19 0 0 0 0 31
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 1 0 27 0 28
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 3 11 0 0 0 22
Mendelics 6 4 3 2 4 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
Genome-Nilou Lab 0 0 0 0 19 0 19
Mayo Clinic Laboratories, Mayo Clinic 4 1 12 1 0 0 18
GenomeConnect - Brain Gene Registry 0 0 0 0 0 18 18
New York Genome Center 0 0 17 0 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 3 5 5 0 16
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 6 0 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 3 10 0 15
3billion 7 6 2 0 0 0 15
MGZ Medical Genetics Center 2 3 7 0 0 0 12
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 3 5 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 6 0 0 0 10
O&I group, Department of Genetics, University Medical Center of Groningen 3 2 5 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 8 0 0 0 10
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 2 5 1 0 9
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 3 0 1 1 0 9
GeneReviews 0 0 0 0 0 8 8
Illumina Laboratory Services, Illumina 2 2 4 0 0 0 8
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 5 1 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 3 0 0 0 0 6
Pediatric Department, Xiangya Hospital, Central South University 2 4 0 0 0 0 6
Genomics England Pilot Project, Genomics England 1 5 0 0 0 0 6
Centogene AG - the Rare Disease Company 1 1 3 0 0 0 5
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 3 0 0 0 5
Undiagnosed Diseases Network, NIH 1 4 0 0 0 0 5
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 3 0 0 0 5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 3 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
Clinical Genomics Laboratory, Washington University in St. Louis 1 2 1 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 2 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 1 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 1 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 2 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 1 0 0 0 4
MVZ Medizinische Genetik Mainz 1 2 1 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 1 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 2 0 0 0 3
E. Rossignol Lab, CHU Ste-Justine, Universite de Montreal 2 1 0 0 0 0 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 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
Center of Human Genetics, Hôpital Erasme 2 1 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 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, 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 2 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 1 0 0 0 2
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 1 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 1 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 1 0 0 0 0 2
Pediatrics, MediClubGeorgia 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 1 0 0 0 2
Department of Neurology, Zibo Changguo Hospital 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
ISCA site 1 0 1 0 0 0 0 1
Care4Rare-SOLVE, CHEO 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Myllykangas group, University of Helsinki 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 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
Division of Genomics, Kyushu university 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Robert's Program, Boston Children's Hospital 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Human Developmental Genetics, Institut Pasteur 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu 0 1 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 0 0 0 1

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