ClinVar Miner

Variants in gene ATP1A3

Minimum submission review status: Collection method:
Minimum conflict level:
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 total
62 24 109 54 24 243

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Dystonia 12 24 2 76 49 21 157
not provided 12 12 29 3 6 61
Alternating hemiplegia of childhood 0 1 22 24 2 49
Alternating hemiplegia of childhood 2 39 3 1 0 0 43
not specified 0 0 5 4 5 13
Inborn genetic diseases 3 4 2 0 0 9
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss; Dystonia 12; Alternating hemiplegia of childhood 2 4 0 2 0 0 6
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 2 3 0 0 0 5
Dystonia 12; Alternating hemiplegia of childhood 2 1 0 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
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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 2 56 26 19 115
GeneReviews 51 0 0 0 0 51
Illumina Clinical Services Laboratory,Illumina 0 0 22 24 2 48
GeneDx 10 9 14 4 0 37
OMIM 18 0 0 0 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 13 0 0 16
Genetic Services Laboratory, University of Chicago 3 3 5 2 0 13
Athena Diagnostics Inc 0 0 0 0 9 9
Ambry Genetics 3 4 2 0 0 9
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 3 0 2 7
Fulgent Genetics,Fulgent Genetics 4 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 1 0 0 0 4
Division of Genomic Diagnostics,The 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
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
Baylor Genetics 1 0 0 0 0 1
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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Gene Discovery Core-Manton Center,Boston Children's Hospital 1 0 0 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
Genetics Laboratory,Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 1

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