Gene: CACNA1A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908226
rs121908226
CACNA1A
T 0.810 CausalMutation CLINVAR

dbSNP: rs121908227
rs121908227
CACNA1A
C 0.810 CausalMutation CLINVAR

dbSNP: rs121908212
rs121908212
CACNA1A
A 0.800 CausalMutation CLINVAR Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report. 28169007

2017
dbSNP: rs121908212
rs121908212
CACNA1A
A 0.800 CausalMutation CLINVAR Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1. 25274239

2014
dbSNP: rs121908212
rs121908212
CACNA1A
A 0.800 CausalMutation CLINVAR Rare clinical findings in a patient with sporadic hemiplegic migraine: FDG-PET provides diminished brain metabolism at 10-year follow-up. 24270521

2014
dbSNP: rs121908212
rs121908212
CACNA1A
A 0.800 CausalMutation CLINVAR Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene. 11971066

2002
dbSNP: rs121908212
rs121908212
CACNA1A
A 0.800 CausalMutation CLINVAR Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia. 11814735

2002
dbSNP: rs121908212
rs121908212
CACNA1A
A 0.800 CausalMutation CLINVAR Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine. 10024348

1999
dbSNP: rs121908212
rs121908212
CACNA1A
A 0.800 CausalMutation CLINVAR Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics. 9488686

1998
dbSNP: rs121908212
rs121908212
CACNA1A
A 0.800 CausalMutation CLINVAR Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206

1996
dbSNP: rs121908215
rs121908215
CACNA1A
T 0.800 CausalMutation CLINVAR

dbSNP: rs121908216
rs121908216
CACNA1A
T 0.800 GeneticVariation CLINVAR

dbSNP: rs121908216
rs121908216
CACNA1A
T 0.800 CausalMutation CLINVAR

dbSNP: rs121908228
rs121908228
CACNA1A
A 0.800 GeneticVariation CLINVAR

dbSNP: rs121908233
rs121908233
CACNA1A
G 0.800 CausalMutation CLINVAR

dbSNP: rs121908236
rs121908236
CACNA1A
T 0.800 CausalMutation CLINVAR

dbSNP: rs121908243
rs121908243
CACNA1A
A 0.800 CausalMutation CLINVAR

dbSNP: rs863224852
rs863224852
CACNA1A
T 0.710 GeneticVariation CLINVAR

dbSNP: rs121908247
rs121908247
CACNA1A
T 0.700 CausalMutation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085

2017
dbSNP: rs1555737113
rs1555737113
CACNA1A
T 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs1568440440
rs1568440440
CACNA1A
C 0.700 CausalMutation CLINVAR Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. 27066515

2016
dbSNP: rs1568457080
rs1568457080
CACNA1A
A 0.700 CausalMutation CLINVAR Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. 27250579

2016
dbSNP: rs121909323
rs121909323
CACNA1A
A 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs1568457080
rs1568457080
CACNA1A
A 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs786200962
rs786200962
CACNA1A
G 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015