ClinVar Miner

Variants in gene ATP1A3

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Gene type:
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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
69 42 214 162 53 485

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Dystonia 12 36 10 171 136 49 380
Alternating hemiplegia of childhood 2 41 7 28 9 35 119
not provided 14 14 38 29 11 100
not specified 1 0 5 4 6 15
Inborn genetic diseases 5 5 2 0 0 12
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 3 4 1 0 0 8
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2 4 2 2 0 0 8
Alternating hemiplegia of childhood 0 1 2 0 0 3
Dystonia 12; Alternating hemiplegia of childhood 2 2 0 0 0 0 2
Intellectual disability 0 0 0 2 0 2
ATP1A3-Related Disorders 1 0 0 0 0 1
ATP1A3-related neurologic disorders 0 1 0 0 0 1
Alternating hemiplegia of childhood 1 0 0 1 0 0 1
Dystonia; Tetraparesis; Oculogyric crisis 0 1 0 0 0 1
Epicanthus; Seizures; Depressed nasal bridge; Abnormality of earlobe; Ventriculomegaly 1 0 0 0 0 1
Epilepsy; Hemiplegia 1 0 0 0 0 1
Epileptic encephalopathy 0 1 0 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 1
Global developmental delay; Hemiplegia; Oculogyric crisis 1 0 0 0 0 1
Juvenile onset psychosis 1 0 0 0 0 1
Seizures; Apnea; Delayed speech and language development; Hemiplegia; Oculogyric crisis 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 25 4 139 146 29 343
Illumina Clinical Services Laboratory,Illumina 0 1 27 9 38 72
GeneReviews 51 0 0 0 0 51
GeneDx 10 9 14 4 0 37
CeGaT Praxis fuer Humangenetik Tuebingen 5 5 22 0 0 32
OMIM 18 0 0 0 0 18
Athena Diagnostics Inc 0 0 0 2 13 15
Genetic Services Laboratory, University of Chicago 3 3 5 2 0 13
Ambry Genetics 5 5 2 0 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 2 4 0 0 10
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 3 0 2 7
Institute of Human Genetics, Klinikum rechts der Isar 4 3 0 0 0 7
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 3 2 0 0 7
Baylor Genetics 2 3 1 0 0 6
Mendelics 1 3 1 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 4 0 1 0 0 5
Fulgent Genetics,Fulgent Genetics 4 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 1
Gene Discovery Core-Manton Center,Boston Children's Hospital 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
TIDEX, University of British Columbia 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 1
Genetics Laboratory,Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 1

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