Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Stepwise developmental regression associated with novel CACNA1A mutation. 18940563

2008
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2. 15300451

2004
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. 15483044

2004
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. 9436730

1998
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR The genetic spectrum of a population-based sample of familial hemiplegic migraine. 17142831

2007
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. 25758715

2015
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Magnetic resonance imaging in familial paroxysmal ataxia. 3358708

1988
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. 15710862

2005
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. 16595610

2006
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 9302278

1997
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206

1996
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 20129625

2010
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Migraine: gene mutations and functional consequences. 17495624

2007
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174

2016
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654

2016
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. 11723274

2001
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation. 20097664

2010
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil. 21183743

2011
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717

2010
dbSNP: rs1555756091
rs1555756091
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Primary episodic ataxias: diagnosis, pathogenesis and treatment. 17575281

2007