ClinVar Miner

Variants in gene CACNA1A

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Gene type:
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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
316 243 1732 1412 301 58 3525

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, 42 180 57 910 1099 115 0 2361
not provided 125 75 874 361 232 6 1546
Inborn genetic diseases 22 10 167 149 44 0 392
not specified 0 0 77 166 96 0 305
CACNA1A-related disorder 7 19 50 95 8 1 180
Developmental and epileptic encephalopathy, 42 27 46 84 2 20 0 173
Episodic ataxia type 2 44 30 33 2 22 19 137
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 5 3 33 14 1 6 61
Migraine, familial hemiplegic, 1 14 5 16 0 19 14 59
Spinocerebellar ataxia type 6 14 11 15 0 19 2 58
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
Episodic ataxia type 2; Migraine, familial hemiplegic, 1 0 0 1 0 4 1 6
CACNA1A-related complex neurodevelopmental disorder 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
Seizure 0 2 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
Hereditary episodic ataxia 1 1 1 0 0 0 3
Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2 0 1 0 0 0 3
Autism spectrum disorder 0 0 0 2 0 0 2
Neurodevelopmental abnormality 0 1 0 1 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
Autistic behavior; Specific learning disability; Abnormal basal ganglia morphology; Abnormal globus pallidus morphology; Bilateral basal ganglia lesions; Abnormal substantia nigra morphology; Attention deficit hyperactivity disorder 0 0 1 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
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
Muscle weakness; Spasticity; Hypertonia; Neurogenic bladder; Spastic gait; Abnormal cerebral white matter morphology; Cerebral venous thrombosis; Bone marrow hypocellularity; Myelitis; Abnormal thalamic MRI signal intensity; Abnormal brainstem MRI signal intensity; Combined immunodeficiency 0 0 1 0 0 0 1
SUDDEN INFANT DEATH SYNDROME 0 0 1 0 0 0 1
Spastic ataxia 0 0 1 0 0 0 1
Spinocerebellar ataxia type 6; Developmental and epileptic encephalopathy, 42 0 1 0 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: 129
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 179 56 910 1100 115 0 2360
GeneDx 82 36 587 329 223 0 1256
Ambry Genetics 22 10 167 149 44 0 392
CeGaT Center for Human Genetics Tuebingen 18 23 157 133 10 0 341
Athena Diagnostics 34 12 153 37 82 0 318
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 7 6 35 15 1 0 64
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 3 0 24 13 1 0 41
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
Institute of Human Genetics, University of Leipzig Medical Center 7 10 19 0 1 0 36
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 21 13 0 35
Wendy Chung Laboratory, Columbia University Medical Center 12 19 0 0 0 0 31
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 1 0 27 0 28
OMIM 25 0 0 0 0 0 25
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 13 9 1 0 0 0 23
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
Neuberg Centre For Genomic Medicine, NCGM 1 0 17 0 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 5 3 6 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 3 10 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
3billion 4 4 2 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 8 0 0 0 10
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 3 2 0 0 0 9
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 1 1 1 0 6
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
Undiagnosed Diseases Network, NIH 1 4 0 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
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
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
Clinical Genomics Laboratory, Washington University in St. Louis 1 2 0 0 0 0 3
E. Rossignol Lab, CHU Ste-Justine, Universite de Montreal 2 1 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 1 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
MVZ Medizinische Genetik Mainz 1 1 1 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 2 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 1 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
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
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 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
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 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 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
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
Molecular Genetics, Royal Melbourne Hospital 0 0 1 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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