ClinVar Miner

Variants in gene CACNA1A

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Minimum submission review status: Collection method:
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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
123 72 508 420 175 42 1150

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 53 46 286 211 149 3 688
not specified 0 0 57 235 62 0 315
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 32 3 176 17 9 0 237
History of neurodevelopmental disorder 2 1 41 41 37 0 122
Episodic ataxia type 2 29 14 9 2 1 20 65
Familial hemiplegic migraine type 1 12 2 1 0 0 15 20
Inborn genetic diseases 7 1 7 1 0 0 16
Episodic ataxia type 2; Spinocerebellar ataxia 6; Familial hemiplegic migraine type 1; Epileptic encephalopathy, early infantile, 42 3 0 11 0 0 0 14
Episodic ataxia type 2; Familial hemiplegic migraine type 1 0 1 0 0 12 0 13
Epileptic encephalopathy, early infantile, 42 5 3 2 1 0 0 11
Spinocerebellar ataxia 6 4 1 3 0 0 2 9
Cerebellar ataxia 2 0 1 0 0 0 3
CACNA1A-related condition 0 2 0 0 0 0 2
Epileptic encephalopathy, early infantile, 1 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-Related Disorder 0 0 0 0 0 1 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 6 0 1 0 0 0 0 1
Episodic ataxia type 2; Spinocerebellar ataxia 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 immunodeficiency 0 0 1 0 0 0 1
See cases 0 1 0 0 0 0 1
Seizures 0 0 1 0 0 0 1
Spastic ataxia 0 0 1 0 0 0 1
Subependymal giant-cell astrocytoma 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 32 23 153 240 111 0 559
Invitae 32 3 176 171 63 0 445
Athena Diagnostics Inc 20 9 78 24 56 0 187
Ambry Genetics 9 2 48 41 37 0 137
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 73 8 22 0 105
CeGaT Praxis fuer Humangenetik Tuebingen 0 15 57 17 0 0 89
UniProtKB/Swiss-Prot 0 0 0 1 0 40 41
Genetic Services Laboratory, University of Chicago 4 0 7 23 0 0 34
OMIM 31 0 0 0 0 0 31
PreventionGenetics,PreventionGenetics 0 0 0 1 16 0 17
Mendelics 5 4 3 2 1 0 15
Fulgent Genetics,Fulgent Genetics 3 0 11 0 0 0 14
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 2 5 1 0 9
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 1 3 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 4 0 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 2 1 0 0 0 5
Baylor Genetics 0 1 3 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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 1 1 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 1 2 0 0 0 0 3
E. Rossignol Lab,CHU Ste-Justine, Universite de Montreal 2 1 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 0 0 0 0 3
Undiagnosed Diseases Network,NIH 0 3 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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 2 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 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
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
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

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