Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064797245
rs1064797245
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 CausalMutation CLINVAR Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations. 29397530

2018
dbSNP: rs1064797245
rs1064797245
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 CausalMutation CLINVAR A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever. 29066118

2018
dbSNP: rs1064797245
rs1064797245
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 GeneticVariation CLINVAR Mosaicism in ATP1A3-related disorders: not just a theoretical risk. 27726050

2017
dbSNP: rs1064797245
rs1064797245
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 CausalMutation CLINVAR Mosaicism in ATP1A3-related disorders: not just a theoretical risk. 27726050

2017
dbSNP: rs1064797245
rs1064797245
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 GeneticVariation CLINVAR Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum. 27268479

2016
dbSNP: rs1064797245
rs1064797245
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 CausalMutation CLINVAR De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. 27634470

2016
dbSNP: rs1064797245
rs1064797245
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 GeneticVariation CLINVAR De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. 27634470

2016
dbSNP: rs1064797245
rs1064797245
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 CausalMutation CLINVAR Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum. 27268479

2016
dbSNP: rs1064797245
rs1064797245
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 CausalMutation CLINVAR Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 26400718

2015
dbSNP: rs1064797245
rs1064797245
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 GeneticVariation CLINVAR Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 26400718

2015