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
174 111 832 528 181 43 1634

Condition and significance breakdown #

Total conditions: 44
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 75 16 509 241 59 0 900
not provided 68 58 331 151 103 3 677
not specified 0 0 56 235 70 0 318
History of neurodevelopmental disorder 2 1 41 41 37 0 122
Episodic ataxia type 2 34 18 14 2 1 20 78
Epileptic encephalopathy, early infantile, 42 9 12 26 1 1 0 48
Familial hemiplegic migraine type 1 14 4 9 1 0 15 33
Inborn genetic diseases 10 4 7 1 0 0 22
Spinocerebellar ataxia type 6 6 4 6 0 0 2 17
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Familial hemiplegic migraine type 1; Epileptic encephalopathy, early infantile, 42 3 0 11 0 0 0 14
Intellectual disability 0 0 2 7 0 0 9
Episodic ataxia type 2; Familial hemiplegic migraine type 1 0 1 0 0 7 0 8
Cerebellar ataxia 2 0 2 0 0 0 4
CACNA1A-related disorders 0 1 2 0 0 0 3
Epileptic encephalopathy, early infantile, 1 0 0 3 0 0 0 3
CACNA1A-Related Disorder 0 0 0 0 0 2 2
CACNA1A-related condition 0 2 0 0 0 0 2
Seizures 0 0 2 0 0 0 2
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
Autistic behavior; Specific learning disability; Abnormality of the basal ganglia; Abnormality of the globus pallidus; Bilateral basal ganglia lesions; Abnormality of the substantia nigra; 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 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
Chronic and progressive ataxia 1 0 0 0 0 0 1
Episodic ataxia 0 0 1 0 0 0 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; Familial hemiplegic migraine type 1; Hemiplegia-hemiconvulsion-epilepsy 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 0 1 0 0 0 0 1
Migraine, sporadic hemiplegic 1 0 0 0 0 0 1
Migraine, sporadic hemiplegic, with progressive cerebellar ataxia 1 0 0 0 0 0 1
Muscle weakness; Spasticity; Hypertonia; Neurogenic bladder; Spastic gait; Abnormality of the cerebral white matter; Cerebral venous thrombosis; Bone marrow hypocellularity; Myelitis; Abnormal thalamic MRI signal intensity; Abnormal brainstem MRI signal intensity; Combined T and B cell immunodeficiency 0 0 1 0 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 0 1
See cases 0 1 0 0 0 0 1
Spastic ataxia 0 0 1 0 0 0 1
Subependymal giant cell astrocytoma 0 0 1 0 0 0 1
Toe walking 0 0 1 0 0 0 1
Vascular dementia 0 0 1 0 0 0 1
none provided 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 75 16 509 277 63 0 940
GeneDx 32 23 153 240 111 0 559
Athena Diagnostics Inc 23 12 99 28 71 0 233
Ambry Genetics 12 5 48 41 37 0 143
CeGaT Praxis fuer Humangenetik Tuebingen 8 18 82 33 0 0 141
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 73 8 22 0 105
UniProtKB/Swiss-Prot 0 0 0 1 0 40 41
Genetic Services Laboratory, University of Chicago 4 0 7 22 1 0 34
OMIM 31 0 0 0 0 0 31
Baylor Genetics 6 5 17 0 0 0 27
PreventionGenetics, PreventionGenetics 0 0 0 1 16 0 17
Institute of Human Genetics, University of Leipzig Medical Center 0 3 13 0 1 0 17
Mendelics 5 4 3 2 1 0 15
Fulgent Genetics,Fulgent Genetics 3 0 11 0 0 0 14
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 9 5 0 0 0 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 5 7 1 0 0 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 2 5 1 0 9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 7 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 6 0 0 0 8
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 3 1 4 0 0 0 8
Illumina Clinical Services Laboratory,Illumina 1 1 3 0 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 2 1 0 0 0 5
Institute of Human Genetics, Klinikum rechts der Isar 2 2 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 1 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 0 1 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 1 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 1 0 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
Undiagnosed Diseases Network,NIH 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 1 0 0 3
Pediatrics, MediClubGeorgia 2 1 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 1 1 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
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 2 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Blueprint Genetics 0 1 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 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
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 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
Johns Hopkins Genomics, Johns Hopkins 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
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 0 1 0 0 0 1

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