Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908247
rs121908247
0.800 GeneticVariation UNIPROT Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085

2017

dbSNP: rs121908215
rs121908215
0.800 CausalMutation CLINVAR CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. 15985579

2006

dbSNP: rs121908247
rs121908247
0.800 GeneticVariation UNIPROT Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 16325861

2006

dbSNP: rs121908247
rs121908247
0.800 GeneticVariation UNIPROT Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function. 10753886

2000

dbSNP: rs121908215
rs121908215
0.800 CausalMutation CLINVAR Progressive ataxia due to a missense mutation in a calcium-channel gene. 9345107

1997

dbSNP: rs121908215
rs121908215
0.800 GeneticVariation CLINVAR

dbSNP: rs121908215
rs121908215
0.800 GeneticVariation UNIPROT

dbSNP: rs121908247
rs121908247
0.800 GeneticVariation CLINVAR

dbSNP: rs121908245
rs121908245
0.700 GeneticVariation UNIPROT A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717

2015

dbSNP: rs863224852
rs863224852
0.700 GeneticVariation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014

dbSNP: rs121909326
rs121909326
0.700 CausalMutation CLINVAR Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation. 15452324

2004

dbSNP: rs121908217
rs121908217
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: rs121908217
rs121908217
0.700 CausalMutation CLINVAR Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. 12056940

2002

dbSNP: rs121908217
rs121908217
0.700 CausalMutation CLINVAR Missense CACNA1A mutation causing episodic ataxia type 2. 11176968

2001

dbSNP: rs121908217
rs121908217
0.700 CausalMutation CLINVAR A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia. 10408534

1999