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
28 21 160 148 47 354

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial hemiplegic migraine 2 6 92 81 21 184
not specified 0 0 8 88 40 126
not provided 9 13 73 5 5 105
Alternating hemiplegia of childhood 0 0 48 37 3 88
Familial hemiplegic migraine type 2 13 0 2 0 1 16
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
Epileptic encephalopathy 0 0 1 0 0 1
Migraine, familial basilar 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 6 6 54 79 32 177
Invitae 2 5 40 31 16 94
Illumina Clinical Services Laboratory,Illumina 0 0 48 37 3 88
Ambry Genetics 2 1 7 15 10 35
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 19 2 7 28
Athena Diagnostics Inc 3 3 8 1 11 26
OMIM 15 0 0 0 0 15
Genetic Services Laboratory, University of Chicago 0 0 2 9 0 11
Fulgent Genetics 0 0 9 0 0 9
PreventionGenetics 0 0 0 0 8 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 2 2 0 8
Mendelics 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 2 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 0 0 1 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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