ClinVar Miner

Variants in gene ATP1A2

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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 total
36 32 316 196 108 607

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial hemiplegic migraine 10 7 195 91 30 322
not provided 13 19 80 39 24 172
Familial hemiplegic migraine type 2 14 1 70 16 43 142
Alternating hemiplegia of childhood 1 1 2 55 9 60 126
not specified 0 0 8 88 40 126
Alternating hemiplegia of childhood 0 0 7 0 2 9
Alternating hemiplegia of childhood 1; Familial hemiplegic migraine type 2 0 0 9 0 0 9
Inborn genetic diseases 2 1 0 0 0 3
Epilepsy; Abnormality of neuronal migration; Arthrogryposis multiplex congenita; Hydrops fetalis 0 2 0 0 0 2
Polymicrogyria 2 0 0 0 0 2
Seizures, benign familial infantile, 3 0 0 0 2 0 2
Epilepsy 0 1 0 0 0 1
Epileptic encephalopathy 0 0 1 0 0 1
Familial hemiplegic migraine type 2; Alternating hemiplegia of childhood 0 1 0 0 0 1
Hemiparesis; Headache; Dysphasia 0 0 1 0 0 1
Migraine, familial basilar 1 0 0 0 0 1
Seizures 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 10 6 186 92 25 319
GeneDx 6 8 54 91 49 208
Illumina Clinical Services Laboratory,Illumina 0 0 71 23 62 132
Athena Diagnostics Inc 4 3 16 1 13 37
Ambry Genetics 2 1 6 16 10 35
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 19 2 7 28
CeGaT Praxis fuer Humangenetik Tuebingen 5 7 5 2 0 19
OMIM 15 0 0 0 0 15
Genetic Services Laboratory, University of Chicago 0 0 2 9 0 11
Fulgent Genetics,Fulgent Genetics 0 0 9 0 0 9
PreventionGenetics, PreventionGenetics 0 0 0 0 8 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 1 0 4
Mendelics 0 2 1 0 0 3
Baylor Genetics 0 1 1 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 2
Cell and Molecular Biology Laboratory,University of the Punjab Lahore 0 0 0 2 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1

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