Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR Primary episodic ataxias: diagnosis, pathogenesis and treatment. 17575281

2007
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. 12707077

2003
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 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: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717

2010
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR Magnetic resonance imaging in familial paroxysmal ataxia. 3358708

1988
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174

2016
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR Clinical spectrum of episodic ataxia type 2. 14718690

2004
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood. 18498393

2008
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. 8988170

1997
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS. 22249839

2012
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR The International Classification of Headache Disorders, 3rd edition (beta version). 23771276

2013
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation. 20097664

2010
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR New calcium channel mutations predict aberrant RNA splicing in episodic ataxia. 16043807

2005
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. 15483044

2004
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. 9403487

1997
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 16325861

2006
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. 9559993

1998
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. 11723274

2001
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR Migraine: gene mutations and functional consequences. 17495624

2007
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. 9005860

1997
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR The genetic spectrum of a population-based sample of familial hemiplegic migraine. 17142831

2007
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR Large CACNA1A deletion in a family with episodic ataxia type 2. 18541804

2008
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings. 19484318

2009
dbSNP: rs1131691712
rs1131691712
CACNA1A
GA 0.700 CausalMutation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085

2017