Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine. 23831250

2013
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654

2016
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174

2016
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Stepwise developmental regression associated with novel CACNA1A mutation. 18940563

2008
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717

2010
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. 15483044

2004
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085

2017
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 16325861

2006
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation. 20097664

2010
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls. 9879686

1998
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206

1996
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil. 21183743

2011
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR New calcium channel mutations predict aberrant RNA splicing in episodic ataxia. 16043807

2005
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. 9559993

1998
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. 15710862

2005
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Migraine: gene mutations and functional consequences. 17495624

2007
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 20129625

2010
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Magnetic resonance imaging in familial paroxysmal ataxia. 3358708

1988
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The International Classification of Headache Disorders, 3rd edition (beta version). 23771276

2013
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The genetic spectrum of a population-based sample of familial hemiplegic migraine. 17142831

2007
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation. 19811514

2010
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood. 18498393

2008
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings. 19484318

2009
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015