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
105 49 426 281 87 40 843

Condition and significance breakdown #

Total conditions: 33
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 47 35 241 17 20 3 349
not specified 0 0 59 235 62 0 315
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 18 1 114 47 47 0 227
History of neurodevelopmental disorder 2 1 42 42 35 0 122
Episodic ataxia type 2 27 6 6 0 0 20 50
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 4 2 2 1 0 0 9
Spinocerebellar ataxia 6 3 1 2 0 0 2 7
Cerebellar ataxia 2 0 1 0 0 0 3
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
CACNA1A-related condition 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
Epileptic encephalopathy, early infantile, 1 0 0 1 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, 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
Subependymal giant-cell astrocytoma 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 29 21 153 207 42 0 452
Invitae 18 1 114 47 47 0 227
Athena Diagnostics Inc 17 6 62 18 40 0 143
Ambry Genetics 9 2 49 42 35 0 137
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 73 8 22 0 105
UniProtKB/Swiss-Prot 0 0 0 1 0 40 41
CeGaT Praxis fuer Humangenetik Tuebingen 0 9 25 4 0 0 38
Genetic Services Laboratory, University of Chicago 4 0 7 23 0 0 34
OMIM 31 0 0 0 0 0 31
PreventionGenetics 0 0 0 1 16 0 17
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
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 2 1 0 0 0 5
Baylor Miraca Genetics Laboratories, 0 1 3 0 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 1 1 0 0 3
E. Rossignol Lab,CHU Ste-Justine, Universite de Montreal 2 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology 0 2 1 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 1 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 0 0 0 0 2
Mendelics 2 0 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Undiagnosed Diseases Network,NIH 0 2 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
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 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
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
Institute of Human Genetics,University of Wuerzburg 0 0 1 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

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