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
29 22 179 189 70 428

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 9 13 76 66 43 194
Familial hemiplegic migraine 3 6 108 67 12 187
not specified 0 0 8 88 40 126
Alternating hemiplegia of childhood 0 0 48 37 3 88
Familial hemiplegic migraine type 2 13 0 3 0 1 17
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
Alternating hemiplegia of childhood 1 1 0 0 0 0 1
Epilepsy 0 1 0 0 0 1
Epileptic encephalopathy 0 0 1 0 0 1
Migraine, familial basilar 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 6 6 54 91 49 206
Invitae 3 5 56 68 25 157
Illumina Clinical Services Laboratory,Illumina 0 0 48 37 3 88
Ambry Genetics 2 1 7 15 10 35
Athena Diagnostics Inc 3 3 11 1 13 31
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 19 2 7 28
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 3 2 0 9
PreventionGenetics,PreventionGenetics 0 0 0 0 8 8
Mendelics 0 2 1 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 1

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