Gene: CACNA1C ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation. 26822303

2016
dbSNP: rs786205748
rs786205748
CACNA1C
T 0.710 CausalMutation CLINVAR Through whole exome sequencing and expanded cohort screening, we identified a novel genetic substrate p.Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and congenital heart defects annotated as cardiac-only Timothy syndrome. 26253506

2015
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between Timothy syndrome types 1 and 2? 26227324

2015
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Imaging diagnosis-ultrasonographic and CT findings in a gray seal (Halichoerus grypus) with hepatic cirrhosis, pyelonephritis, and nephrolithiasis. 23578275

2014
dbSNP: rs750835733
rs750835733
CACNA1C
T 0.710 GeneticVariation CLINVAR This mutation, Pro857Arg-CACNA1C, cosegregated with the disease within the pedigree, was ranked by 3 disease-network algorithms as the most probable LQTS-susceptibility gene and involves a conserved residue localizing to the proline, gltamic acid, serine, and threonine (PEST) domain in the II-III linker. 23677916

2013
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2). 23580742

2013
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome. 23690510

2013
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Somatic mosaicism contributes to phenotypic variation in Timothy syndrome. 21910241

2011
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation. 19074970

2009
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels. 18250309

2008
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. 15863612

2005
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078

2004
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation. 26822303

2016
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development. 25691416

2015
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain. 23979604

2014
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2). 24773605

2014
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR Timothy mutation disrupts the link between activation and inactivation in Ca(V)1.2 protein. 21685391

2011
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. 15863612

2005