Gene: CACNA1A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085

2017
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085

2017
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174

2016
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654

2016
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654

2016
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174

2016
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. 25758715

2015
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. 25758715

2015
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine. 23831250

2013
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR The International Classification of Headache Disorders, 3rd edition (beta version). 23771276

2013
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. 23441182

2013
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine. 23831250

2013
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR The International Classification of Headache Disorders, 3rd edition (beta version). 23771276

2013
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. 23441182

2013
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS. 22249839

2012
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS. 22249839

2012
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil. 21183743

2011
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil. 21183743

2011
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation. 20097664

2010
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. 20156848

2010
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR CaV2.1 channelopathies. 20204399

2010