Gene: ATP1A3 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231435
rs606231435
ATP1A3
T 0.700 GeneticVariation CLINVAR CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene. 25895915

2015
dbSNP: rs606231435
rs606231435
ATP1A3
T 0.700 GeneticVariation CLINVAR Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. 25656163

2015
dbSNP: rs606231435
rs606231435
ATP1A3
T 0.700 GeneticVariation CLINVAR Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only. 25359261

2015
dbSNP: rs606231435
rs606231435
ATP1A3
T 0.700 GeneticVariation CLINVAR Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. 25996915

2015
dbSNP: rs606231435
rs606231435
ATP1A3
T 0.700 GeneticVariation CLINVAR Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 26400718

2015
dbSNP: rs1064797245
rs1064797245
ATP1A3
A 0.700 CausalMutation CLINVAR Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. 24996492

2014
dbSNP: rs1064797245
rs1064797245
ATP1A3
A 0.700 CausalMutation CLINVAR Distinct neurological disorders with ATP1A3 mutations. 24739246

2014
dbSNP: rs1064797245
rs1064797245
ATP1A3
A 0.700 CausalMutation CLINVAR Cognitive impairment in rapid-onset dystonia-parkinsonism. 24436111

2014
dbSNP: rs1064797245
rs1064797245
ATP1A3
A 0.700 CausalMutation CLINVAR Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. 24123283

2014
dbSNP: rs1064797245
rs1064797245
ATP1A3
A 0.700 CausalMutation CLINVAR A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. 24468074

2014
dbSNP: rs200891944
rs200891944
ATP1A3
T 0.700 GeneticVariation CLINVAR A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. 24468074

2014
dbSNP: rs200891944
rs200891944
ATP1A3
T 0.700 GeneticVariation CLINVAR Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. 24123283

2014
dbSNP: rs200891944
rs200891944
ATP1A3
T 0.700 GeneticVariation CLINVAR Distinct neurological disorders with ATP1A3 mutations. 24739246

2014
dbSNP: rs200891944
rs200891944
ATP1A3
T 0.700 GeneticVariation CLINVAR Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. 24996492

2014
dbSNP: rs200891944
rs200891944
ATP1A3
T 0.700 GeneticVariation CLINVAR Cognitive impairment in rapid-onset dystonia-parkinsonism. 24436111

2014
dbSNP: rs606231435
rs606231435
ATP1A3
T 0.700 GeneticVariation CLINVAR Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. 24123283

2014
dbSNP: rs606231435
rs606231435
ATP1A3
T 0.700 GeneticVariation CLINVAR A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. 24468074

2014
dbSNP: rs606231435
rs606231435
ATP1A3
T 0.700 GeneticVariation CLINVAR Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. 24996492

2014
dbSNP: rs606231435
rs606231435
ATP1A3
T 0.700 GeneticVariation CLINVAR Distinct neurological disorders with ATP1A3 mutations. 24739246

2014
dbSNP: rs606231435
rs606231435
ATP1A3
T 0.700 GeneticVariation CLINVAR Cognitive impairment in rapid-onset dystonia-parkinsonism. 24436111

2014
dbSNP: rs1064797245
rs1064797245
ATP1A3
A 0.700 CausalMutation CLINVAR The multiple faces of the ATP1A3-related dystonic movement disorder. 23483595

2013
dbSNP: rs200891944
rs200891944
ATP1A3
T 0.700 GeneticVariation CLINVAR The multiple faces of the ATP1A3-related dystonic movement disorder. 23483595

2013
dbSNP: rs606231435
rs606231435
ATP1A3
T 0.700 GeneticVariation CLINVAR The multiple faces of the ATP1A3-related dystonic movement disorder. 23483595

2013
dbSNP: rs1064797245
rs1064797245
ATP1A3
A 0.700 CausalMutation CLINVAR Psychiatric disorders in rapid-onset dystonia-parkinsonism. 22933743

2012
dbSNP: rs1064797245
rs1064797245
ATP1A3
A 0.700 CausalMutation CLINVAR New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism. 22534615

2012