CACNA1C (calcium voltage-gated channel subunit alpha1 C) - Rat Genome Database

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Gene: CACNA1C (calcium voltage-gated channel subunit alpha1 C) Homo sapiens
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Symbol: CACNA1C
Name: calcium voltage-gated channel subunit alpha1 C
RGD ID: 10268
HGNC Page HGNC:1390
Description: Enables alpha-actinin binding activity; calmodulin binding activity; and voltage-gated calcium channel activity. Contributes to voltage-gated calcium channel activity involved in cardiac muscle cell action potential. Involved in several processes, including calcium ion transmembrane transport via high voltage-gated calcium channel; embryonic forelimb morphogenesis; and regulation of heart contraction. Located in cytoplasm; plasma membrane; and postsynaptic density. Part of L-type voltage-gated calcium channel complex. Implicated in Brugada syndrome 3 and Timothy syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CACH2; CACN2; CACNA1C intronic transcript 2; CACNA1C intronic transcript 2 (non-protein coding); CACNA1C-IT2; CACNL1A1; calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit; calcium channel, L type, alpha 1 polypeptide, isoform 1, cardic muscle; calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle; calcium channel, voltage-dependent, alpha 1c subunit; calcium channel, voltage-dependent, L type, alpha 1C subunit; CaV1.2; CCHL1A1; DHPR, alpha-1 subunit; LQT8; MGC120730; NEDHLSS; TS; TS. LQT8; voltage-dependent L-type Ca2+ channel alpha 1 subunit; voltage-dependent L-type calcium channel subunit alpha-1C; voltage-gated calcium channel alpha subunit Cav1.2; voltage-gated calcium channel subunit alpha Cav1.2; voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10*
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100422463  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38121,970,780 - 2,697,950 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl121,970,772 - 2,697,950 (+)EnsemblGRCh38hg38GRCh38
GRCh37122,162,153 - 2,807,116 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,032,725 - 2,677,376 (+)NCBINCBI36Build 36hg18NCBI36
Build 34122,032,724 - 2,672,368NCBI
Celera123,770,102 - 4,421,688 (+)NCBICelera
Cytogenetic Map12p13.33NCBI
HuRef122,016,425 - 2,664,566 (+)NCBIHuRef
CHM1_1122,161,408 - 2,806,152 (+)NCBICHM1_1
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute stress disorder  (EXP)
alcohol dependence  (ISO)
Alzheimer's disease  (ISO)
amyloidosis  (IAGP)
anxiety disorder  (EXP)
arrhythmogenic right ventricular cardiomyopathy  (IAGP)
autism spectrum disorder  (IAGP)
autistic disorder  (EXP)
bipolar disorder  (EXP)
breast ductal carcinoma  (IAGP)
Brugada syndrome  (IAGP)
Brugada syndrome 3  (EXP,IAGP)
Cardiac Arrhythmias  (EXP,IAGP)
cardiomyopathy  (IAGP)
catecholaminergic polymorphic ventricular tachycardia  (IAGP)
cerebral palsy  (IAGP)
Cognitive Dysfunction  (EXP)
Congenital Limb Deformities  (EXP)
congestive heart failure  (IAGP)
dilated cardiomyopathy  (IAGP)
epilepsy  (IAGP)
esophageal atresia  (IAGP)
Familial Ventricular Tachycardia  (IAGP)
Fetal Growth Retardation  (ISO)
genetic disease  (IAGP)
Genetic Predisposition to Disease  (EXP)
Heart Block  (IAGP)
Hyperphosphatemic Familial Tumoral Calcinosis 1  (IAGP)
hypertension  (EXP)
hypertrophic cardiomyopathy  (IAGP)
hypertrophic cardiomyopathy 1  (IAGP)
hypoglycemia  (EXP)
intellectual disability  (IAGP)
invasive ductal carcinoma  (IAGP)
Joint Instability  (IAGP)
Language Development Disorders  (IAGP)
long QT syndrome  (IAGP)
long QT syndrome 1  (IAGP)
long QT syndrome 8  (IAGP)
major depressive disorder  (EXP)
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies  (IAGP)
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures  (IAGP)
Neurodevelopmental Disorders  (IAGP)
post-traumatic stress disorder  (IAGP)
primary immunodeficiency disease  (EXP)
Psychomotor Agitation  (EXP)
pulmonary valve stenosis  (IAGP)
restrictive cardiomyopathy  (IAGP)
Romano-Ward Syndrome  (IAGP)
schizophrenia  (IAGP)
short QT syndrome  (IAGP)
Sudden Cardiac Death  (IAGP)
Sudden Death  (IAGP)
Sudden Unexpected Nocturnal Death Syndrome  (IAGP)
Timothy syndrome  (EXP,IAGP,ISS)
Tremor  (IAGP)
Ventricular Fibrillation, Paroxysmal Familial, 1  (IAGP)
Ventricular Tachycardia  (IAGP)
Wolff-Parkinson-White syndrome  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-nitrophenol  (ISO)
acetamide  (ISO)
aconitine  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (ISO)
allethrin  (ISO)
amiodarone  (ISO)
amphetamine  (ISO)
androgen antagonist  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (ISO)
astragaloside IV  (EXP)
atenolol  (EXP)
atrazine  (ISO)
Bardoxolone methyl  (EXP)
barium(0)  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
Butylparaben  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
cantharidin  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cisplatin  (ISO)
crizotinib  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
DDE  (ISO)
deferiprone  (EXP)
diarsenic trioxide  (ISO)
dibutyl phthalate  (ISO)
diltiazem  (ISO)
dioxygen  (ISO)
disodium selenite  (ISO)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ezogabine  (EXP)
fenvalerate  (ISO)
ferrostatin-1  (ISO)
formaldehyde  (ISO)
fulvestrant  (EXP)
furan  (ISO)
iron atom  (EXP)
iron dextran  (EXP,ISO)
iron(0)  (EXP)
isoprenaline  (ISO)
lead(0)  (EXP)
linsidomine  (EXP)
linuron  (ISO)
malathion  (EXP)
maneb  (ISO)
methamphetamine  (ISO)
methapyrilene  (EXP)
methotrexate  (EXP)
methoxychlor  (ISO)
methylene blue  (ISO)
mevalonic acid  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (EXP)
nicotine  (ISO)
nifedipine  (EXP,ISO)
nimodipine  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
peroxynitrous acid  (EXP)
pioglitazone  (ISO)
potassium chloride  (EXP)
pregabalin  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
progesterone  (ISO)
Ptaquiloside  (ISO)
pyrethrins  (ISO)
resveratrol  (ISO)
rotenone  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium cyanide  (ISO)
sodium disulfite  (ISO)
streptozocin  (ISO)
sunitinib  (EXP,ISO)
tetrachloromethane  (ISO)
thalidomide  (ISO)
torcetrapib  (EXP)
trichloroethene  (EXP,ISO)
triptonide  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP,ISO)
verapamil  (EXP,ISO)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult walking behavior  (ISO)
axon development  (ISO)
calcium ion import  (ISO)
calcium ion import across plasma membrane  (IBA,IEA,ISO)
calcium ion transmembrane transport  (IDA,IEA,IMP)
calcium ion transmembrane transport via high voltage-gated calcium channel  (IDA,IMP,ISO)
calcium ion transport  (IEA,ISO)
calcium ion transport into cytosol  (ISS,TAS)
calcium-ion regulated exocytosis  (ISO)
calcium-mediated signaling using extracellular calcium source  (TAS)
camera-type eye development  (IMP)
cardiac conduction  (IMP)
cardiac muscle cell action potential involved in contraction  (IMP)
cell communication by electrical coupling involved in cardiac conduction  (TAS)
cell communication involved in cardiac conduction  (ISO)
cellular response to amyloid-beta  (ISO)
cerebral cortex development  (ISO)
chemical synaptic transmission  (ISO)
corpus callosum development  (ISO)
embryonic forelimb morphogenesis  (IMP)
establishment of localization in cell  (ISO)
exocytosis  (ISO)
glucose homeostasis  (ISO)
growth hormone secretion  (ISO)
heart development  (IMP)
immune system development  (IMP)
insulin secretion  (ISO)
intracellular calcium ion homeostasis  (ISO)
membrane depolarization during atrial cardiac muscle cell action potential  (IMP)
membrane depolarization during AV node cell action potential  (IMP)
membrane depolarization during cardiac muscle cell action potential  (IMP)
monoatomic ion transmembrane transport  (IEA)
monoatomic ion transport  (IEA)
optic nerve development  (ISO)
positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel  (ISO)
positive regulation of cytosolic calcium ion concentration  (IDA)
positive regulation of insulin secretion  (ISO)
positive regulation of membrane depolarization  (ISO)
regulation of blood pressure  (ISO)
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  (ISS,TAS)
regulation of heart rate by cardiac conduction  (IMP)
regulation of organ growth  (ISO)
regulation of vasoconstriction  (ISO)
regulation of ventricular cardiac muscle cell action potential  (IMP)
response to alcohol  (ISO)
response to nutrient levels  (ISO)
response to organic cyclic compound  (ISO)
smooth muscle contraction  (ISO)
smooth muscle contraction involved in micturition  (ISO)
transmembrane transport  (IEA)
visual learning  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway   (EXP)
Alzheimer's disease pathway  (IEA)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
arrhythmogenic right ventricular cardiomyopathy pathway  (IEA)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway   (EXP)
calcium transport pathway   (TAS)
calcium/calcium-mediated signaling pathway   (TAS)
calcium/calmodulin dependent kinase 2 signaling pathway  (TAS)
carvedilol pharmacodynamics pathway  (EXP)
dilated cardiomyopathy pathway  (IEA)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
felodipine pharmacokinetics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
glutamate signaling pathway  (IEA)
gonadotropin-releasing hormone signaling pathway  (IEA)
hypertrophic cardiomyopathy pathway  (IEA)
ibutilide pharmacodynamics pathway   (EXP)
insulin secretion pathway  (TAS)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
long term potentiation  (IEA)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway   (EXP)
mitogen activated protein kinase signaling pathway  (IEA)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway   (EXP)
type 2 diabetes mellitus pathway  (IEA)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe cutaneous syndactyly  (IAGP)
3-4 finger cutaneous syndactyly  (IAGP)
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal cardiac exercise stress test  (IAGP)
Abnormal T-wave  (IAGP)
Abnormality of prenatal development or birth  (IAGP)
Aborted sudden cardiac death  (IAGP)
Adult onset  (IAGP)
Amyloidosis  (IAGP)
Anal stenosis  (IAGP)
Appendicular hypotonia  (IAGP)
Arrhythmia  (IAGP)
Atrial fibrillation  (IAGP)
Atrioventricular block  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Axial hypotonia  (IAGP)
Bradycardia  (IAGP)
Bronchitis  (IAGP)
Camptodactyly  (IAGP)
Cardiac arrest  (IAGP)
Cardiomegaly  (IAGP)
Cardiomyopathy  (IAGP)
Central sleep apnea  (IAGP)
Cerebral palsy  (IAGP)
Concentric hypertrophic cardiomyopathy  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Cutaneous syndactyly  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Downturned corners of mouth  (IAGP)
Dysphagia  (IAGP)
Effort-induced polymorphic ventricular tachycardia  (IAGP)
Esophageal atresia  (IAGP)
First degree atrioventricular block  (IAGP)
Flexion contracture  (IAGP)
Focal-onset seizure  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypocalcemia  (IAGP)
Hypoglycemia  (IAGP)
Hypokalemia  (IAGP)
Hypothermia  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Immunodeficiency  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intention tremor  (IAGP)
Inverted nipples  (IAGP)
J wave  (IAGP)
Juvenile onset  (IAGP)
Laryngomalacia  (IAGP)
Low-set ears  (IAGP)
Lower limb spasticity  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Motor delay  (IAGP)
Myoclonic seizure  (IAGP)
Narrow mouth  (IAGP)
Neonatal onset  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Neurodevelopmental delay  (IAGP)
Obstructive sleep apnea  (IAGP)
Optic nerve hypoplasia  (IAGP)
Paroxysmal ventricular tachycardia  (IAGP)
Patent ductus arteriosus  (IAGP)
Patent foramen ovale  (IAGP)
Pes planus  (IAGP)
Pes valgus  (IAGP)
Pneumonia  (IAGP)
Postnatal growth retardation  (IAGP)
Posttraumatic stress symptom  (IAGP)
Postural instability  (IAGP)
Prolonged QT interval  (IAGP)
Prolonged QTc interval  (IAGP)
Proptosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonic stenosis  (IAGP)
Recurrent infections  (IAGP)
Restrictive cardiomyopathy  (IAGP)
Right bundle branch block  (IAGP)
Round face  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Shallow orbits  (IAGP)
Shortened QT interval  (IAGP)
Sick sinus syndrome  (IAGP)
Single umbilical artery  (IAGP)
Sinus bradycardia  (IAGP)
Sparse scalp hair  (IAGP)
ST segment elevation  (IAGP)
Stridor  (IAGP)
Sudden cardiac death  (IAGP)
Sudden death  (IAGP)
Supraventricular tachycardia  (IAGP)
Syncope  (IAGP)
Syndactyly  (IAGP)
Tachycardia  (IAGP)
Talipes equinovarus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Tonic seizure  (IAGP)
Torsade de pointes  (IAGP)
Trifascicular block  (IAGP)
Ventricular arrhythmia  (IAGP)
Ventricular fibrillation  (IAGP)
Ventricular septal defect  (IAGP)
Ventricular tachycardia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Voltage-gated calcium channels. Catterall WA Cold Spring Harb Perspect Biol. 2011 Aug 1;3(8):a003947. doi: 10.1101/cshperspect.a003947.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. The alterations of Ca2+/calmodulin/CaMKII/CaV1.2 signaling in experimental models of Alzheimer's disease and vascular dementia. Min D, etal., Neurosci Lett. 2013 Mar 22;538:60-5. doi: 10.1016/j.neulet.2013.02.001. Epub 2013 Feb 8.
4. Alcohol Withdrawal-Induced Seizure Susceptibility is Associated with an Upregulation of CaV1.3 Channels in the Rat Inferior Colliculus. N'Gouemo P, etal., Int J Neuropsychopharmacol. 2015 Jan 2;18(7):pyu123. doi: 10.1093/ijnp/pyu123.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. New therapeutic targets in cardiology: arrhythmias and Ca2+/calmodulin-dependent kinase II (CaMKII). Rokita AG and Anderson ME, Circulation. 2012 Oct 23;126(17):2125-39. doi: 10.1161/CIRCULATIONAHA.112.124990.
12. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Splawski I, etal., Proc Natl Acad Sci U S A. 2005 Jun 7;102(23):8089-96; discussion 8086-8. Epub 2005 Apr 29.
13. Differential Roles for L-Type Calcium Channel Subtypes in Alcohol Dependence. Uhrig S, etal., Neuropsychopharmacology. 2017 Apr;42(5):1058-1069. doi: 10.1038/npp.2016.266. Epub 2016 Dec 1.
14. The levels of Pdx1/insulin, Cacna1c and Cacna1d, and β-cell mass in a rat model of intrauterine undernutrition. Xu YP, etal., J Matern Fetal Neonatal Med. 2011 Mar;24(3):437-43. doi: 10.3109/14767058.2010.497571. Epub 2010 Sep 27.
15. The role of voltage-gated calcium channels in pancreatic beta-cell physiology and pathophysiology. Yang SN and Berggren PO, Endocr Rev. 2006 Oct;27(6):621-76. Epub 2006 Jul 25.
Additional References at PubMed
PMID:1316612   PMID:1330882   PMID:1335957   PMID:1650913   PMID:1653763   PMID:2173707   PMID:7737988   PMID:7959794   PMID:8099908   PMID:8392192   PMID:8612821   PMID:8619474  
PMID:8664319   PMID:9013606   PMID:9087614   PMID:9110174   PMID:9247274   PMID:9607315   PMID:9668070   PMID:10022083   PMID:11206130   PMID:11438518   PMID:11438519   PMID:11461190  
PMID:11576544   PMID:11741969   PMID:12130699   PMID:12163037   PMID:12166659   PMID:12176756   PMID:12477932   PMID:12593842   PMID:12832067   PMID:12962146   PMID:14140941   PMID:14702039  
PMID:14722109   PMID:14981074   PMID:15140941   PMID:15141227   PMID:15170217   PMID:15299022   PMID:15339916   PMID:15454078   PMID:15583004   PMID:15671035   PMID:15728831   PMID:15749491  
PMID:15845581   PMID:15916803   PMID:15953418   PMID:15980164   PMID:15980432   PMID:16020652   PMID:16157588   PMID:16285952   PMID:16299511   PMID:16319140   PMID:16338416   PMID:16382099  
PMID:16483597   PMID:16610939   PMID:16648185   PMID:16820363   PMID:17071743   PMID:17110593   PMID:17173968   PMID:17224476   PMID:17593353   PMID:17916557   PMID:17942635   PMID:17950697  
PMID:18174367   PMID:18250309   PMID:18317468   PMID:18359894   PMID:18535142   PMID:18535201   PMID:18536931   PMID:18596041   PMID:18603601   PMID:18618671   PMID:18675806   PMID:18711365  
PMID:18836301   PMID:18927079   PMID:19065143   PMID:19095005   PMID:19106618   PMID:19205682   PMID:19215628   PMID:19225208   PMID:19265197   PMID:19279214   PMID:19343720   PMID:19351867  
PMID:19388002   PMID:19492014   PMID:19520970   PMID:19620129   PMID:19621016   PMID:19625771   PMID:19687230   PMID:19717733   PMID:19781653   PMID:19913121   PMID:19916019   PMID:19952088  
PMID:20031608   PMID:20066046   PMID:20098439   PMID:20169111   PMID:20201926   PMID:20226536   PMID:20301308   PMID:20301577   PMID:20301690   PMID:20351715   PMID:20351721   PMID:20371314  
PMID:20379614   PMID:20424473   PMID:20628086   PMID:20636642   PMID:20638048   PMID:20677014   PMID:20679588   PMID:20719785   PMID:20723887   PMID:20817017   PMID:20819988   PMID:20924598  
PMID:20953164   PMID:21042317   PMID:21057379   PMID:21078228   PMID:21098446   PMID:21134641   PMID:21145461   PMID:21186355   PMID:21282112   PMID:21292451   PMID:21352396   PMID:21395576  
PMID:21464227   PMID:21487241   PMID:21519340   PMID:21521762   PMID:21653829   PMID:21664226   PMID:21665954   PMID:21676128   PMID:21685391   PMID:21712653   PMID:21767209   PMID:21788606  
PMID:21810465   PMID:21873635   PMID:21926972   PMID:21926974   PMID:21931320   PMID:21998324   PMID:22012475   PMID:22085483   PMID:22100296   PMID:22142827   PMID:22261054   PMID:22464935  
PMID:22490625   PMID:22590648   PMID:22614287   PMID:22614292   PMID:22647524   PMID:22665259   PMID:22688191   PMID:22705413   PMID:22914618   PMID:22957138   PMID:22985546   PMID:22990809  
PMID:23222517   PMID:23404764   PMID:23406546   PMID:23437284   PMID:23437964   PMID:23453885   PMID:23557075   PMID:23575362   PMID:23677916   PMID:23680436   PMID:23728906   PMID:23733657  
PMID:23771339   PMID:23804206   PMID:23860750   PMID:23880959   PMID:23900723   PMID:23948586   PMID:23948887   PMID:23973784   PMID:23974872   PMID:23979604   PMID:24026422   PMID:24108394  
PMID:24240197   PMID:24262814   PMID:24269271   PMID:24275578   PMID:24280982   PMID:24315451   PMID:24355530   PMID:24365142   PMID:24411473   PMID:24612926   PMID:24642287   PMID:24643163  
PMID:24681347   PMID:24716743   PMID:24728418   PMID:24816216   PMID:24941892   PMID:24996399   PMID:25056061   PMID:25107449   PMID:25184293   PMID:25290268   PMID:25341504   PMID:25403839  
PMID:25470093   PMID:25588813   PMID:25633834   PMID:25841664   PMID:25843436   PMID:25918994   PMID:26048451   PMID:26049024   PMID:26049408   PMID:26100638   PMID:26204268   PMID:26216687  
PMID:26227746   PMID:26253506   PMID:26276307   PMID:26401721   PMID:26406417   PMID:26475575   PMID:26476274   PMID:26507659   PMID:26509803   PMID:26525885   PMID:26541689   PMID:26553695  
PMID:26611642   PMID:26750869   PMID:26756527   PMID:27122098   PMID:27124316   PMID:27218670   PMID:27221213   PMID:27260792   PMID:27276213   PMID:27341015   PMID:27418245   PMID:27502440  
PMID:27529678   PMID:27620326   PMID:27744593   PMID:27790829   PMID:27868338   PMID:27893184   PMID:28119464   PMID:28391406   PMID:28398341   PMID:28427417   PMID:28481223   PMID:28493952  
PMID:28494468   PMID:28514967   PMID:28521147   PMID:28552773   PMID:28593527   PMID:28607492   PMID:28611215   PMID:28696432   PMID:28765577   PMID:28792954   PMID:28807015   PMID:28866666  
PMID:29123182   PMID:29362489   PMID:29385621   PMID:29501388   PMID:29509190   PMID:29568937   PMID:29581247   PMID:29683785   PMID:29684488   PMID:29691127   PMID:29733866   PMID:29736926  
PMID:29742403   PMID:29779930   PMID:29959960   PMID:30023270   PMID:30079586   PMID:30102687   PMID:30124797   PMID:30172029   PMID:30268820   PMID:30279520   PMID:30304534   PMID:30345660  
PMID:30348784   PMID:30422117   PMID:30513141   PMID:30607529   PMID:30733149   PMID:30978379   PMID:31012223   PMID:31033230   PMID:31061683   PMID:31076262   PMID:31291898   PMID:31302118  
PMID:31317860   PMID:31324123   PMID:31355778   PMID:31408100   PMID:31462068   PMID:31634677   PMID:31663850   PMID:31805042   PMID:31829002   PMID:32169562   PMID:32186935   PMID:32332995  
PMID:32437834   PMID:32681117   PMID:32770953   PMID:32800865   PMID:32859919   PMID:33002116   PMID:33082339   PMID:33169621   PMID:33191761   PMID:33203140   PMID:33443233   PMID:33492063  
PMID:33636223   PMID:33663102   PMID:33704440   PMID:33797204   PMID:33938268   PMID:34001616   PMID:34079780   PMID:34163037   PMID:34210324   PMID:34939692   PMID:34999275   PMID:35104251  
PMID:35128618   PMID:35135875   PMID:35176124   PMID:35190817   PMID:35221147   PMID:35544990   PMID:35583604   PMID:35786202   PMID:35794842   PMID:35796825   PMID:35862440   PMID:36154842  
PMID:36193501   PMID:36273583   PMID:36421807   PMID:36436328   PMID:36598608   PMID:37009738   PMID:37196677   PMID:37489644   PMID:37493923   PMID:37706495   PMID:37972591  


Genomics

Comparative Map Data
CACNA1C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38121,970,780 - 2,697,950 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl121,970,772 - 2,697,950 (+)EnsemblGRCh38hg38GRCh38
GRCh37122,162,153 - 2,807,116 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,032,725 - 2,677,376 (+)NCBINCBI36Build 36hg18NCBI36
Build 34122,032,724 - 2,672,368NCBI
Celera123,770,102 - 4,421,688 (+)NCBICelera
Cytogenetic Map12p13.33NCBI
HuRef122,016,425 - 2,664,566 (+)NCBIHuRef
CHM1_1122,161,408 - 2,806,152 (+)NCBICHM1_1
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBIT2T-CHM13v2.0
Cacna1c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396118,564,201 - 119,174,345 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6118,564,201 - 119,173,851 (-)EnsemblGRCm39 Ensembl
GRCm386118,587,240 - 119,197,384 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6118,587,240 - 119,196,890 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl6118,587,240 - 119,196,418 (-)EnsemblGRCm38mm10GRCm38
MGSCv376118,542,314 - 119,146,427 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366118,558,083 - 119,074,173 (-)NCBIMGSCv36mm8
MGSCv366119,385,868 - 119,901,054 (-)NCBIMGSCv36mm8
Celera6120,420,625 - 121,028,854 (-)NCBICelera
Cytogenetic Map6F1NCBI
cM Map655.86NCBI
Cacna1c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84153,431,169 - 154,051,932 (-)NCBIGRCr8
mRatBN7.24151,764,138 - 152,379,454 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4151,764,138 - 152,379,648 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4158,028,661 - 158,645,825 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04153,812,328 - 154,429,518 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04152,435,662 - 153,052,854 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04150,635,808 - 151,270,790 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4150,641,066 - 150,829,913 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04216,562,477 - 217,184,927 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44154,895,691 - 155,517,389 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14155,140,531 - 155,762,230 (-)NCBI
Celera4140,633,057 - 141,244,304 (-)NCBICelera
Cytogenetic Map4q42NCBI
Cacna1c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554544,490,923 - 5,198,506 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554544,573,647 - 5,199,046 (+)NCBIChiLan1.0ChiLan1.0
CACNA1C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2107,594,561 - 8,246,448 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1127,591,331 - 8,243,218 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0122,166,672 - 2,817,827 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1122,031,317 - 2,745,113 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl122,114,140 - 2,744,826 (+)Ensemblpanpan1.1panPan2
CACNA1C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12744,007,363 - 44,748,251 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2744,008,020 - 44,746,429 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha271,930,129 - 2,677,673 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02744,377,759 - 45,118,301 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12744,305,678 - 45,048,124 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02744,278,568 - 45,019,930 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0271,287,600 - 2,035,369 (-)NCBIUU_Cfam_GSD_1.0
Cacna1c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945106,316,518 - 106,936,642 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366062,168,625 - 2,865,758 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366062,168,104 - 2,867,560 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACNA1C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl569,275,176 - 69,448,430 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1569,016,954 - 69,448,428 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2571,339,366 - 71,731,255 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CACNA1C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1112,107,722 - 2,753,970 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl112,508,705 - 2,752,991 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660635,568,387 - 6,218,696 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cacna1c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473510,201,526 - 10,432,896 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473510,201,030 - 10,927,349 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CACNA1C
2494 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000719.7(CACNA1C):c.77C>T (p.Ala26Val) single nucleotide variant Long QT syndrome [RCV000529862] Chr12:2115251 [GRCh38]
Chr12:2224417 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1989C>T (p.Ile663=) single nucleotide variant Long QT syndrome [RCV000543647] Chr12:2581683 [GRCh38]
Chr12:2690849 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3391G>A (p.Asp1131Asn) single nucleotide variant Long QT syndrome [RCV000547243]|Ventricular tachycardia [RCV000852444] Chr12:2608545 [GRCh38]
Chr12:2717711 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NC_000012.11:g.(?_2224370)_(2224731_?)dup duplication Long QT syndrome [RCV000526912] Chr12:2224370..2224731 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.989C>T (p.Thr330Met) single nucleotide variant Cardiovascular phenotype [RCV000621455]|Long QT syndrome [RCV001220486]|not provided [RCV000522519] Chr12:2493262 [GRCh38]
Chr12:2602428 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5785-5C>T single nucleotide variant Cardiovascular phenotype [RCV002358442]|Long QT syndrome [RCV000544299] Chr12:2688442 [GRCh38]
Chr12:2797608 [GRCh37]
Chr12:12p13.33
benign|likely benign
NC_000012.11:g.(?_2794882)_(2800385_?)dup duplication Long QT syndrome [RCV000547576] Chr12:2685716..2691219 [GRCh38]
Chr12:2794882..2800385 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6275G>A (p.Gly2092Asp) single nucleotide variant Cardiovascular phenotype [RCV002358446]|Long QT syndrome [RCV000527982] Chr12:2691057 [GRCh38]
Chr12:2800223 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5136C>T (p.Ser1712=) single nucleotide variant Cardiovascular phenotype [RCV002341263]|Long QT syndrome [RCV000546693]|not provided [RCV001540683] Chr12:2679488 [GRCh38]
Chr12:2788654 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln) single nucleotide variant Cardiovascular phenotype [RCV000618206]|Long QT syndrome [RCV000528554]|Timothy syndrome [RCV000763837] Chr12:2682561 [GRCh38]
Chr12:2791727 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NC_000012.11:g.(?_2162709)_(2666163_?)dup duplication Long QT syndrome [RCV000551199] Chr12:2053543..2556997 [GRCh38]
Chr12:2162709..2666163 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1052T>A (p.Phe351Tyr) single nucleotide variant not provided [RCV000523331] Chr12:2493325 [GRCh38]
Chr12:2602491 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5917C>A (p.Arg1973=) single nucleotide variant Cardiovascular phenotype [RCV002358443]|Long QT syndrome [RCV000532165] Chr12:2688579 [GRCh38]
Chr12:2797745 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4233-6C>A single nucleotide variant Long QT syndrome [RCV000526012] Chr12:2664819 [GRCh38]
Chr12:2773985 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2977G>C (p.Val993Leu) single nucleotide variant not provided [RCV000523812] Chr12:2605097 [GRCh38]
Chr12:2714263 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.372-15G>A single nucleotide variant Long QT syndrome [RCV002054480]|Timothy syndrome [RCV002496445]|not provided [RCV001610297]|not specified [RCV000253674] Chr12:2120310 [GRCh38]
Chr12:2229476 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4624-297A>G single nucleotide variant not provided [RCV001564358] Chr12:2668636 [GRCh38]
Chr12:2777802 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1872G>A (p.Leu624=) single nucleotide variant Cardiovascular phenotype [RCV002413449]|Long QT syndrome [RCV000542845] Chr12:2567771 [GRCh38]
Chr12:2676937 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3493G>A (p.Val1165Ile) single nucleotide variant not provided [RCV003321107] Chr12:2608647 [GRCh38]
Chr12:2717813 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2220A>G (p.Gly740=) single nucleotide variant Long QT syndrome [RCV000544521] Chr12:2582938 [GRCh38]
Chr12:2692104 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5924A>C (p.Glu1975Ala) single nucleotide variant Long QT syndrome [RCV000544633] Chr12:2688586 [GRCh38]
Chr12:2797752 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val) single nucleotide variant Cardiovascular phenotype [RCV000618390]|Long QT syndrome [RCV000546112]|Timothy syndrome [RCV000763839]|not specified [RCV001255539] Chr12:2688673 [GRCh38]
Chr12:2797839 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3790G>A (p.Val1264Met) single nucleotide variant Inborn genetic diseases [RCV002525289]|Long QT syndrome [RCV000543032]|not provided [RCV002264954] Chr12:2611975 [GRCh38]
Chr12:2721141 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.6234C>T (p.Ala2078=) single nucleotide variant Cardiovascular phenotype [RCV000618548]|Long QT syndrome [RCV000547426]|not specified [RCV002222544] Chr12:2691016 [GRCh38]
Chr12:2800182 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2452G>A (p.Ala818Thr) single nucleotide variant Long QT syndrome [RCV000526538] Chr12:2585488 [GRCh38]
Chr12:2694654 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6000C>T (p.Pro2000=) single nucleotide variant Cardiovascular phenotype [RCV000620165]|Long QT syndrome [RCV001081048] Chr12:2688662 [GRCh38]
Chr12:2797828 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5039A>G (p.Asp1680Gly) single nucleotide variant Long QT syndrome [RCV000545194] Chr12:2677815 [GRCh38]
Chr12:2786981 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5729G>A (p.Arg1910Gln) single nucleotide variant CACNA1C-related condition [RCV003419923]|Cardiovascular phenotype [RCV002350180]|Long QT syndrome [RCV000531826] Chr12:2686214 [GRCh38]
Chr12:2795380 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3344A>G (p.Glu1115Gly) single nucleotide variant Long QT syndrome [RCV000529667] Chr12:2607118 [GRCh38]
Chr12:2716284 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1381C>A (p.Pro461Thr) single nucleotide variant Long QT syndrome [RCV000524902] Chr12:2512975 [GRCh38]
Chr12:2622141 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5245G>A (p.Val1749Met) single nucleotide variant CACNA1C-related condition [RCV003403258]|Long QT syndrome [RCV000547612] Chr12:2679597 [GRCh38]
Chr12:2788763 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) single nucleotide variant CACNA1C-Related Disorders [RCV000853375]|Cardiovascular phenotype [RCV002354166]|Congenital long QT syndrome [RCV000058285]|Long QT syndrome [RCV000199739]|Long qt syndrome 8 [RCV003332999]|Timothy syndrome [RCV000019199]|Timothy syndrome [RCV003224103]|not provided [RCV000170771] Chr12:2504944 [GRCh38]
Chr12:2614110 [GRCh37]
Chr12:12p13.33
pathogenic|likely pathogenic|not provided
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser) single nucleotide variant Congenital long QT syndrome [RCV000058284]|Long QT syndrome [RCV001851937]|Timothy syndrome [RCV000019200]|not provided [RCV000422493] Chr12:2504932 [GRCh38]
Chr12:2614098 [GRCh37]
Chr12:12p13.33
pathogenic|not provided
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) single nucleotide variant Brugada syndrome 3 [RCV000019201]|Brugada syndrome [RCV000058286]|Cardiovascular phenotype [RCV000618330]|Long QT syndrome 1 [RCV001256682]|Long QT syndrome [RCV001085545]|Timothy syndrome [RCV000334098]|not provided [RCV000586094]|not specified [RCV000170775] Chr12:2550020 [GRCh38]
Chr12:2659186 [GRCh37]
Chr12:12p13.33
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val) single nucleotide variant Brugada syndrome 3 [RCV000019202]|Brugada syndrome [RCV000058283] Chr12:2115290 [GRCh38]
Chr12:2224456 [GRCh37]
Chr12:12p13.33
pathogenic|not provided
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=) single nucleotide variant Cardiac arrhythmia [RCV001841520]|Cardiovascular phenotype [RCV000242482]|History of neurodevelopmental disorder [RCV000715356]|Long QT syndrome [RCV000205452]|not provided [RCV001668135]|not specified [RCV000079279] Chr12:2115345 [GRCh38]
Chr12:2224511 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5680+15C>T single nucleotide variant Cardiac arrhythmia [RCV001841521]|Long QT syndrome [RCV002054481]|not provided [RCV001711085]|not specified [RCV000079304] Chr12:2685857 [GRCh38]
Chr12:2795023 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile) single nucleotide variant Cardiac arrhythmia [RCV001841522]|Cardiovascular phenotype [RCV000619023]|Long QT syndrome [RCV001852585] Chr12:2688693 [GRCh38]
Chr12:2797859 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser) single nucleotide variant Cardiac arrhythmia [RCV001841523]|Long QT syndrome [RCV001852586]|not specified [RCV000170764] Chr12:2691089 [GRCh38]
Chr12:2800255 [GRCh37]
Chr12:12p13.33
likely pathogenic|likely benign|uncertain significance
GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1 copy number loss See cases [RCV000050637] Chr12:121255..3968447 [GRCh38]
Chr12:282465..4077613 [GRCh37]
Chr12:100682..3947874 [NCBI36]
Chr12:12p13.33-13.32
pathogenic
GRCh38/hg38 12p13.33(chr12:1453550-2575642)x3 copy number gain See cases [RCV000051953] Chr12:1453550..2575642 [GRCh38]
Chr12:1562716..2684808 [GRCh37]
Chr12:1432977..2555069 [NCBI36]
Chr12:12p13.33
uncertain significance
GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1 copy number loss See cases [RCV000052777] Chr12:2492728..4829842 [GRCh38]
Chr12:2601894..4939008 [GRCh37]
Chr12:2472155..4809269 [NCBI36]
Chr12:12p13.33-13.32
pathogenic
GRCh38/hg38 12p13.33(chr12:2686912-2733167)x1 copy number loss See cases [RCV000052778] Chr12:2686912..2733167 [GRCh38]
Chr12:2796078..2842333 [GRCh37]
Chr12:2666339..2712594 [NCBI36]
Chr12:12p13.33
pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22
pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3 copy number gain See cases [RCV000053665] Chr12:199896..3284963 [GRCh38]
Chr12:309062..3394129 [GRCh37]
Chr12:179323..3264390 [NCBI36]
Chr12:12p13.33-13.32
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:1764264-4231744)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053669]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053669]|See cases [RCV000053669] Chr12:1764264..4231744 [GRCh38]
Chr12:1873430..4340910 [GRCh37]
Chr12:1743691..4211171 [NCBI36]
Chr12:12p13.33-13.32
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_000719.6(CACNA1C):c.676G>A (p.Gly226Arg) single nucleotide variant Malignant melanoma [RCV000069945] Chr12:2457625 [GRCh38]
Chr12:2566791 [GRCh37]
Chr12:2437052 [NCBI36]
Chr12:12p13.33
not provided
NM_000719.6(CACNA1C):c.1105C>T (p.Leu369=) single nucleotide variant Malignant melanoma [RCV000069946] Chr12:2493378 [GRCh38]
Chr12:2602544 [GRCh37]
Chr12:2472805 [NCBI36]
Chr12:12p13.33
not provided
NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=) single nucleotide variant Cardiovascular phenotype [RCV000246733]|History of neurodevelopmental disorder [RCV000717686]|Long QT syndrome [RCV000205361]|not provided [RCV001711167]|not specified [RCV000374014] Chr12:2608541 [GRCh38]
Chr12:2717707 [GRCh37]
Chr12:2587968 [NCBI36]
Chr12:12p13.33
benign|likely benign|not provided
NM_001129827.1(CACNA1C):c.3908G>A (p.Trp1303Ter) single nucleotide variant Malignant melanoma [RCV000069949] Chr12:2633648 [GRCh38]
Chr12:2742814 [GRCh37]
Chr12:2613075 [NCBI36]
Chr12:12p13.33
not provided
NM_000719.6(CACNA1C):c.4684C>T (p.Leu1562=) single nucleotide variant Malignant melanoma [RCV000069950] Chr12:2668993 [GRCh38]
Chr12:2778159 [GRCh37]
Chr12:2648420 [NCBI36]
Chr12:12p13.33
not provided
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys) single nucleotide variant Brugada syndrome [RCV000058287]|Long QT syndrome [RCV000475353]|Timothy syndrome [RCV001795047]|Timothy syndrome [RCV002490650] Chr12:2607117 [GRCh38]
Chr12:2716283 [GRCh37]
Chr12:12p13.33
pathogenic|uncertain significance|not provided
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) single nucleotide variant Brugada syndrome (shorter-than-normal QT interval) [RCV000148442]|Cardiovascular phenotype [RCV002313739]|Long QT syndrome [RCV001084766]|not provided [RCV000058288]|not specified [RCV000417375] Chr12:2685801 [GRCh38]
Chr12:2794967 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) single nucleotide variant Brugada syndrome (shorter-than-normal QT interval) [RCV000148443]|Brugada syndrome 3 [RCV000678943]|Brugada syndrome [RCV000058289]|Cardiovascular phenotype [RCV000620928]|Long QT syndrome [RCV001086309]|Timothy syndrome [RCV000988771]|not provided [RCV000724590]|not specified [RCV000212341] Chr12:2688702 [GRCh38]
Chr12:2797868 [GRCh37]
Chr12:12p13.33
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) single nucleotide variant Brugada syndrome [RCV000058290]|Cardiovascular phenotype [RCV002362692]|Long QT syndrome [RCV001089169]|Timothy syndrome [RCV000678917]|not provided [RCV000170829] Chr12:2691170 [GRCh38]
Chr12:2800336 [GRCh37]
Chr12:12p13.33
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000719.6(CACNA1C):c.478-83961A>T single nucleotide variant Lung cancer [RCV000110901] Chr12:2365015 [GRCh38]
Chr12:2474181 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.6(CACNA1C):c.478-70635G>T single nucleotide variant Lung cancer [RCV000110904] Chr12:2378341 [GRCh38]
Chr12:2487507 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.6(CACNA1C):c.478-12473G>C single nucleotide variant Lung cancer [RCV000110910] Chr12:2436503 [GRCh38]
Chr12:2545669 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.6(CACNA1C):c.618-1489C>T single nucleotide variant Lung cancer [RCV000110912] Chr12:2456078 [GRCh38]
Chr12:2565244 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.6(CACNA1C):c.758-12212C>T single nucleotide variant Lung cancer [RCV000110913] Chr12:2473892 [GRCh38]
Chr12:2583058 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.6(CACNA1C):c.1509-271G>A single nucleotide variant Lung cancer [RCV000110917] Chr12:2566151 [GRCh38]
Chr12:2675317 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) single nucleotide variant Cardiovascular phenotype [RCV000622244]|History of neurodevelopmental disorder [RCV000716165]|Long QT syndrome [RCV001082290]|Timothy syndrome [RCV000306251]|Timothy syndrome [RCV002498393]|not provided [RCV000079275]|not specified [RCV000173030] Chr12:2115283 [GRCh38]
Chr12:2224449 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.1253G>C (p.Arg418Pro) single nucleotide variant not provided [RCV000079276] Chr12:2512847 [GRCh38]
Chr12:2622013 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) single nucleotide variant Cardiovascular phenotype [RCV000250456]|History of neurodevelopmental disorder [RCV000719050]|Long QT syndrome [RCV001082734]|not provided [RCV000723668]|not specified [RCV000079277] Chr12:2512953 [GRCh38]
Chr12:2622119 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=) single nucleotide variant Cardiovascular phenotype [RCV002399469]|Long QT syndrome [RCV001087995]|not provided [RCV000723728] Chr12:2566467 [GRCh38]
Chr12:2675633 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.2234T>C (p.Leu745Pro) single nucleotide variant not provided [RCV000079280] Chr12:2584512 [GRCh38]
Chr12:2693678 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) single nucleotide variant Cardiovascular phenotype [RCV000621900]|Long QT syndrome [RCV001084502]|not provided [RCV000079281]|not specified [RCV001256728] Chr12:2584558 [GRCh38]
Chr12:2693724 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr) single nucleotide variant Inborn genetic diseases [RCV002515760]|Long QT syndrome [RCV001064085]|Timothy syndrome [RCV002490690]|not provided [RCV000079282] Chr12:2585432 [GRCh38]
Chr12:2694598 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=) single nucleotide variant Cardiovascular phenotype [RCV000247755]|History of neurodevelopmental disorder [RCV000715437]|Long QT syndrome [RCV000860432]|not specified [RCV000079283] Chr12:2585472 [GRCh38]
Chr12:2694638 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) single nucleotide variant Cardiovascular phenotype [RCV000620022]|History of neurodevelopmental disorder [RCV000718458]|Hypertrophic cardiomyopathy [RCV000852662]|Long QT syndrome [RCV001080618]|Timothy syndrome [RCV002470758]|not provided [RCV001668189]|not specified [RCV000079284] Chr12:2585485 [GRCh38]
Chr12:2694651 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3156+6G>C single nucleotide variant Long QT syndrome [RCV001854400]|not provided [RCV000079285] Chr12:2605792 [GRCh38]
Chr12:2714958 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=) single nucleotide variant Cardiovascular phenotype [RCV002453399]|Long QT syndrome [RCV001403645]|not provided [RCV000079286] Chr12:2608529 [GRCh38]
Chr12:2717695 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) single nucleotide variant Cardiovascular phenotype [RCV000620526]|History of neurodevelopmental disorder [RCV000716419]|Long QT syndrome [RCV001079799]|not provided [RCV000723669]|not specified [RCV000248726] Chr12:2610624 [GRCh38]
Chr12:2719790 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) single nucleotide variant Cardiovascular phenotype [RCV000617472]|History of neurodevelopmental disorder [RCV000716637]|Long QT syndrome [RCV001086024]|not provided [RCV000723666]|not specified [RCV000250233] Chr12:2611965 [GRCh38]
Chr12:2721131 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=) single nucleotide variant Cardiovascular phenotype [RCV000245667]|History of neurodevelopmental disorder [RCV000715405]|Long QT syndrome [RCV000860299]|Timothy syndrome [RCV001554531]|not provided [RCV001811360]|not specified [RCV000079289] Chr12:2611971 [GRCh38]
Chr12:2721137 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) single nucleotide variant Cardiovascular phenotype [RCV002354275]|Long QT syndrome [RCV001083964]|not provided [RCV000723717]|not specified [RCV000781193] Chr12:2651663 [GRCh38]
Chr12:2760829 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.4309C>T (p.Pro1437Ser) single nucleotide variant not provided [RCV000079291] Chr12:2664901 [GRCh38]
Chr12:2774067 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=) single nucleotide variant Cardiovascular phenotype [RCV000245788]|History of neurodevelopmental disorder [RCV000715573]|Long QT syndrome [RCV000456879]|not provided [RCV001711224]|not specified [RCV000079292] Chr12:2665667 [GRCh38]
Chr12:2774833 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=) single nucleotide variant Cardiovascular phenotype [RCV002336231]|Long QT syndrome [RCV001078863]|not provided [RCV000079293] Chr12:2668950 [GRCh38]
Chr12:2778116 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=) single nucleotide variant Cardiovascular phenotype [RCV000244441]|History of neurodevelopmental disorder [RCV000717070]|Long QT syndrome [RCV000203987]|Timothy syndrome [RCV002498394]|not provided [RCV001811361]|not specified [RCV000079294] Chr12:2679449 [GRCh38]
Chr12:2788615 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) single nucleotide variant Cardiovascular phenotype [RCV000620146]|History of neurodevelopmental disorder [RCV000718894]|Long QT syndrome [RCV000468235]|not provided [RCV001675603]|not specified [RCV000079295] Chr12:2679491 [GRCh38]
Chr12:2788657 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) single nucleotide variant Brugada syndrome [RCV000288792]|Cardiovascular phenotype [RCV002336232]|Long QT syndrome [RCV001081791]|Restrictive cardiomyopathy [RCV000157124]|Timothy syndrome [RCV003224137]|not provided [RCV000079296]|not specified [RCV000212340] Chr12:2679502 [GRCh38]
Chr12:2788668 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.522G>A (p.Ala174=) single nucleotide variant Cardiovascular phenotype [RCV000248885]|History of neurodevelopmental disorder [RCV000715385]|Long QT syndrome [RCV000860167]|Timothy syndrome [RCV001554436]|not specified [RCV000079297] Chr12:2449020 [GRCh38]
Chr12:2558186 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=) single nucleotide variant Cardiovascular phenotype [RCV000251547]|History of neurodevelopmental disorder [RCV000715230]|Long QT syndrome [RCV000860304]|Timothy syndrome [RCV001554654]|not specified [RCV000079298] Chr12:2679713 [GRCh38]
Chr12:2788879 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) single nucleotide variant Cardiovascular phenotype [RCV000622114]|History of neurodevelopmental disorder [RCV000717889]|Long QT syndrome [RCV001082912]|not provided [RCV000755886]|not specified [RCV000079299] Chr12:2682556 [GRCh38]
Chr12:2791722 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=) single nucleotide variant Cardiovascular phenotype [RCV000254117]|History of neurodevelopmental disorder [RCV000716290]|Long QT syndrome [RCV001082905]|not provided [RCV000590590]|not specified [RCV000079300] Chr12:2685766 [GRCh38]
Chr12:2794932 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) single nucleotide variant Cardiovascular phenotype [RCV000251201]|History of neurodevelopmental disorder [RCV000715734]|Long QT syndrome [RCV000200821]|not provided [RCV001647053]|not specified [RCV000079301] Chr12:2685811 [GRCh38]
Chr12:2794977 [GRCh37]
Chr12:12p13.33
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000852666]|Cardiovascular phenotype [RCV000621082]|History of neurodevelopmental disorder [RCV000715413]|Long QT syndrome [RCV001079466]|Timothy syndrome [RCV002272059]|not provided [RCV000171751]|not specified [RCV000079302] Chr12:2685827 [GRCh38]
Chr12:2794993 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity
NM_000719.7(CACNA1C):c.5680+11C>T single nucleotide variant Long QT syndrome [RCV002055108]|not provided [RCV001610358]|not specified [RCV000079303] Chr12:2685853 [GRCh38]
Chr12:2795019 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) single nucleotide variant Cardiovascular phenotype [RCV000241853]|History of neurodevelopmental disorder [RCV000716980]|Long QT syndrome [RCV001085859]|Short QT syndrome [RCV000157127]|not provided [RCV000079305]|not specified [RCV000223757] Chr12:2688580 [GRCh38]
Chr12:2797746 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.617+17G>A single nucleotide variant Long QT syndrome [RCV002055109]|Timothy syndrome [RCV001554437]|not provided [RCV001811362]|not specified [RCV000079306] Chr12:2449132 [GRCh38]
Chr12:2558298 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.617+19T>C single nucleotide variant Long QT syndrome [RCV002055110]|Timothy syndrome [RCV001554438]|not specified [RCV000079307] Chr12:2449134 [GRCh38]
Chr12:2558300 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.71G>A (p.Arg24His) single nucleotide variant Long QT syndrome [RCV001048681]|Timothy syndrome [RCV000515652]|not provided [RCV000079308] Chr12:2115245 [GRCh38]
Chr12:2224411 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.771C>T (p.Val257=) single nucleotide variant Cardiovascular phenotype [RCV000248618]|History of neurodevelopmental disorder [RCV000717880]|Long QT syndrome [RCV000227726]|not provided [RCV001636638]|not specified [RCV000079309] Chr12:2486117 [GRCh38]
Chr12:2595283 [GRCh37]
Chr12:12p13.33
benign
NM_152640.3(DCP1B):c.292C>T (p.Pro98Ser) single nucleotide variant Malignant melanoma [RCV000069927] Chr12:1993291 [GRCh38]
Chr12:2102457 [GRCh37]
Chr12:1972718 [NCBI36]
Chr12:12p13.33
not provided
NM_000719.7(CACNA1C):c.478-19T>G single nucleotide variant Long QT syndrome [RCV002055438]|not specified [RCV000124064] Chr12:2448957 [GRCh38]
Chr12:2558123 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.618G>A (p.Gly206=) single nucleotide variant Cardiovascular phenotype [RCV002354311]|Long QT syndrome [RCV000456356]|not specified [RCV000124068] Chr12:2457567 [GRCh38]
Chr12:2566733 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) single nucleotide variant Brugada syndrome [RCV000365427]|Cardiovascular phenotype [RCV002444585]|Long QT syndrome [RCV000460955]|Timothy syndrome [RCV000310705]|not provided [RCV001719897]|not specified [RCV000124069] Chr12:2486192 [GRCh38]
Chr12:2595358 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.966C>T (p.His322=) single nucleotide variant Cardiovascular phenotype [RCV000618328]|History of neurodevelopmental disorder [RCV000719849]|Long QT syndrome [RCV001087219]|not provided [RCV000586377]|not specified [RCV000124070] Chr12:2493239 [GRCh38]
Chr12:2602405 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.1114-292C>T single nucleotide variant Long QT syndrome [RCV002055439]|not specified [RCV000124071] Chr12:2504550 [GRCh38]
Chr12:2613716 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) single nucleotide variant Cardiovascular phenotype [RCV000254163]|History of neurodevelopmental disorder [RCV000718831]|Long QT syndrome [RCV000474191]|not provided [RCV003390811]|not specified [RCV000124072] Chr12:2567693 [GRCh38]
Chr12:2676859 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.2339+20C>A single nucleotide variant Long QT syndrome [RCV002055440]|not specified [RCV000124073] Chr12:2584637 [GRCh38]
Chr12:2693803 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2530+9C>T single nucleotide variant not specified [RCV000124075] Chr12:2585913 [GRCh38]
Chr12:2695079 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2637G>A (p.Ala879=) single nucleotide variant Cardiovascular phenotype [RCV002453446]|Long QT syndrome [RCV000550557]|Timothy syndrome [RCV002483241]|not specified [RCV000124076] Chr12:2593319 [GRCh38]
Chr12:2702485 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.2712C>T (p.Asn904=) single nucleotide variant Cardiovascular phenotype [RCV002433618]|Long QT syndrome [RCV000234478]|not specified [RCV000124077] Chr12:2595922 [GRCh38]
Chr12:2705088 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.2793+10G>A single nucleotide variant Long QT syndrome [RCV002055441]|not specified [RCV000124078] Chr12:2596013 [GRCh38]
Chr12:2705179 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3209+12T>C single nucleotide variant Long QT syndrome [RCV002055442]|not specified [RCV000124079] Chr12:2606675 [GRCh38]
Chr12:2715841 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3933C>T (p.Cys1311=) single nucleotide variant Cardiovascular phenotype [RCV002354312]|Long QT syndrome [RCV000559997]|not specified [RCV000124081] Chr12:2648495 [GRCh38]
Chr12:2757661 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4038C>T (p.Ile1346=) single nucleotide variant Cardiovascular phenotype [RCV000254466]|History of neurodevelopmental disorder [RCV000715546]|Long QT syndrome [RCV000466502]|not specified [RCV000124082] Chr12:2651732 [GRCh38]
Chr12:2760898 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4074+14A>G single nucleotide variant Long QT syndrome [RCV002055443]|Timothy syndrome [RCV002477327]|not specified [RCV000124083] Chr12:2651782 [GRCh38]
Chr12:2760948 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4170C>T (p.Thr1390=) single nucleotide variant Cardiovascular phenotype [RCV002326830]|Long QT syndrome [RCV000866375]|not provided [RCV001532199]|not specified [RCV000124084] Chr12:2655176 [GRCh38]
Chr12:2764342 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4527-20T>C single nucleotide variant not specified [RCV000124085] Chr12:2666666 [GRCh38]
Chr12:2775832 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4624-9C>T single nucleotide variant Long QT syndrome [RCV000471587]|not provided [RCV001811995]|not specified [RCV000124086] Chr12:2668924 [GRCh38]
Chr12:2778090 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) single nucleotide variant Cardiovascular phenotype [RCV000617383]|Long QT syndrome [RCV001088840]|not provided [RCV000588823]|not specified [RCV000124087] Chr12:2668968 [GRCh38]
Chr12:2778134 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity
NM_000719.7(CACNA1C):c.4829-7G>A single nucleotide variant Long QT syndrome [RCV000465546]|not provided [RCV003389755]|not specified [RCV000124088] Chr12:2677087 [GRCh38]
Chr12:2786253 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=) single nucleotide variant Cardiovascular phenotype [RCV000254153]|History of neurodevelopmental disorder [RCV000718643]|Long QT syndrome [RCV000466096]|not provided [RCV001811996]|not specified [RCV000124089] Chr12:2677840 [GRCh38]
Chr12:2787006 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5091+18G>A single nucleotide variant Long QT syndrome [RCV002055444]|not provided [RCV001811997]|not specified [RCV000124090] Chr12:2677885 [GRCh38]
Chr12:2787051 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) single nucleotide variant Cardiovascular phenotype [RCV000249460]|History of neurodevelopmental disorder [RCV000716788]|Long QT syndrome [RCV001086120]|not provided [RCV000724269]|not specified [RCV000225692] Chr12:2679566 [GRCh38]
Chr12:2788732 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=) single nucleotide variant Cardiovascular phenotype [RCV000243277]|History of neurodevelopmental disorder [RCV000715332]|Long QT syndrome [RCV000470155]|not provided [RCV001811998]|not specified [RCV000152906] Chr12:2679644 [GRCh38]
Chr12:2788810 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5331C>T (p.Arg1777=) single nucleotide variant Long QT syndrome [RCV002514664]|not specified [RCV000124094] Chr12:2679683 [GRCh38]
Chr12:2788849 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met) single nucleotide variant Brugada syndrome [RCV000355697]|Cardiovascular phenotype [RCV000619661]|History of neurodevelopmental disorder [RCV000715633]|Long QT syndrome [RCV001080869]|not provided [RCV000588907]|not specified [RCV000124095] Chr12:2679712 [GRCh38]
Chr12:2788878 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) single nucleotide variant Cardiovascular phenotype [RCV000620596]|Long QT syndrome [RCV002055445]|not provided [RCV000726471]|not specified [RCV000124097] Chr12:2679776 [GRCh38]
Chr12:2788942 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.371+17G>A single nucleotide variant Long QT syndrome [RCV002055446]|not provided [RCV001811999]|not specified [RCV000124098] Chr12:2115562 [GRCh38]
Chr12:2224728 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) single nucleotide variant Cardiovascular phenotype [RCV000246995]|Long QT syndrome [RCV001086467]|not provided [RCV000724037]|not specified [RCV000225709] Chr12:2682634 [GRCh38]
Chr12:2791800 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.375A>G (p.Pro125=) single nucleotide variant Cardiovascular phenotype [RCV000621076]|Long QT syndrome [RCV000476542]|not specified [RCV000124104] Chr12:2120328 [GRCh38]
Chr12:2229494 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.426G>A (p.Ala142=) single nucleotide variant Cardiovascular phenotype [RCV002326831]|Long QT syndrome [RCV000542450]|not specified [RCV000124105] Chr12:2120379 [GRCh38]
Chr12:2229545 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=) single nucleotide variant Cardiovascular phenotype [RCV002336392]|Long QT syndrome [RCV000471082]|Timothy syndrome [RCV002492699]|not specified [RCV000170757] Chr12:2679509 [GRCh38]
Chr12:2788675 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5235C>T (p.His1745=) single nucleotide variant Cardiovascular phenotype [RCV000619138]|Long QT syndrome [RCV000535148]|not provided [RCV003390887]|not specified [RCV000170758] Chr12:2679587 [GRCh38]
Chr12:2788753 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5445-586C>T single nucleotide variant Timothy syndrome [RCV001554655]|not specified [RCV000124099] Chr12:2681964 [GRCh38]
Chr12:2791130 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5445-584A>G single nucleotide variant Timothy syndrome [RCV001554656]|not specified [RCV000124100] Chr12:2681966 [GRCh38]
Chr12:2791132 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5445-511= single nucleotide variant Timothy syndrome [RCV001554657]|not provided [RCV001729400]|not specified [RCV000124101] Chr12:2682039 [GRCh38]
Chr12:2791205 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=) single nucleotide variant Cardiovascular phenotype [RCV002316982]|Long QT syndrome [RCV001083986]|not provided [RCV000560728]|not specified [RCV001706105] Chr12:2581761 [GRCh38]
Chr12:2690927 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val) single nucleotide variant Timothy syndrome [RCV003224183]|not specified [RCV000170748] Chr12:2633683 [GRCh38]
Chr12:2742849 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5444+623G>A single nucleotide variant not provided [RCV001812281] Chr12:2680419 [GRCh38]
Chr12:2789585 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.175G>T (p.Ala59Ser) single nucleotide variant not provided [RCV000170820] Chr12:2115349 [GRCh38]
Chr12:2224515 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.242G>A (p.Arg81Gln) single nucleotide variant Long QT syndrome [RCV002517639]|not provided [RCV000723991] Chr12:2115416 [GRCh38]
Chr12:2224582 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5144G>A (p.Arg1715Gln) single nucleotide variant Cardiovascular phenotype [RCV002336395]|Long QT syndrome [RCV000705429]|not provided [RCV000170823] Chr12:2679496 [GRCh38]
Chr12:2788662 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val) single nucleotide variant Cardiovascular phenotype [RCV002336396]|Long QT syndrome [RCV000694981]|Timothy syndrome [RCV002485067]|not provided [RCV000170824] Chr12:2679550 [GRCh38]
Chr12:2788716 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) single nucleotide variant Cardiovascular phenotype [RCV002345574]|Long QT syndrome [RCV000463099]|Timothy syndrome [RCV002492701]|not provided [RCV000170826] Chr12:2679690 [GRCh38]
Chr12:2788856 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5573+5G>C single nucleotide variant not provided [RCV000170827] Chr12:2682683 [GRCh38]
Chr12:2791849 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.538G>A (p.Ala180Thr) single nucleotide variant Cardiovascular phenotype [RCV002345575]|Long QT syndrome [RCV000691272]|not provided [RCV000170828] Chr12:2449036 [GRCh38]
Chr12:2558202 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2311GAG[1] (p.Glu772del) microsatellite Cardiovascular phenotype [RCV002444685]|Long QT syndrome [RCV001370395]|not provided [RCV003313049] Chr12:2584589..2584591 [GRCh38]
Chr12:2693755..2693757 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.6(CACNA1C):c.2315_2317delAGA (p.Lys773del) deletion not provided [RCV000170831] Chr12:2584593..2584595 [GRCh38]
Chr12:2693759..2693761 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4910_4912del (p.Gln1637_Gly1638delinsArg) deletion not provided [RCV000170832] Chr12:2677175..2677177 [GRCh38]
Chr12:2786341..2786343 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5026GAG[2] (p.Glu1678del) microsatellite Inborn genetic diseases [RCV002517640]|Long QT syndrome [RCV001214800]|Timothy syndrome [RCV002492702]|not provided [RCV000170833] Chr12:2677802..2677804 [GRCh38]
Chr12:2786968..2786970 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) duplication Cardiovascular phenotype [RCV003165344]|Long QT syndrome [RCV000477263]|Timothy syndrome [RCV002485068]|not provided [RCV002223803]|not specified [RCV000454638] Chr12:2691106..2691107 [GRCh38]
Chr12:2800272..2800273 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1141C>T (p.Pro381Ser) single nucleotide variant not provided [RCV000170835] Chr12:2504869 [GRCh38]
Chr12:2614035 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1255G>A (p.Gly419Arg) single nucleotide variant Long QT syndrome [RCV002517641]|not provided [RCV000170836] Chr12:2512849 [GRCh38]
Chr12:2622015 [GRCh37]
Chr12:12p13.33
pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.1946G>A (p.Arg649His) single nucleotide variant Long QT syndrome [RCV001935099] Chr12:2581640 [GRCh38]
Chr12:2690806 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.6(CACNA1C):c.2213T>G (p.Ile738Ser) single nucleotide variant not provided [RCV000170840] Chr12:2582931 [GRCh38]
Chr12:2692097 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3220A>G (p.Ile1074Val) single nucleotide variant Cardiovascular phenotype [RCV002444686]|Long QT syndrome [RCV001337841]|not provided [RCV000170842] Chr12:2606994 [GRCh38]
Chr12:2716160 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3701T>A (p.Ile1234Asn) single nucleotide variant not provided [RCV000170844] Chr12:2610683 [GRCh38]
Chr12:2719849 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4101C>G (p.Ile1367Met) single nucleotide variant not provided [RCV003482043] Chr12:2653861 [GRCh38]
Chr12:2763027 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr) single nucleotide variant Cardiovascular phenotype [RCV002399603]|Long QT syndrome [RCV000631577]|Pulmonic stenosis [RCV001281511] Chr12:2115250 [GRCh38]
Chr12:2224416 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5033A>G (p.Glu1678Gly) single nucleotide variant Long QT syndrome [RCV000631675]|not provided [RCV000170847] Chr12:2677809 [GRCh38]
Chr12:2786975 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) deletion CACNA1C-related condition [RCV003407633]|Cardiovascular phenotype [RCV003165346]|Long QT syndrome [RCV000814841]|Timothy syndrome [RCV002485069]|not provided [RCV001753579] Chr12:2053576..2053577 [GRCh38]
Chr12:2162742..2162743 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.1697T>C (p.Leu566Pro) single nucleotide variant not provided [RCV002287885] Chr12:2567596 [GRCh38]
Chr12:2676762 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) single nucleotide variant Cardiovascular phenotype [RCV000621118]|Long QT syndrome [RCV000471623]|not provided [RCV000170745] Chr12:2567682 [GRCh38]
Chr12:2676848 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3946-66G>A single nucleotide variant not provided [RCV001711342] Chr12:2651574 [GRCh38]
Chr12:2760740 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3946-12G>A single nucleotide variant Long QT syndrome [RCV002054021]|not provided [RCV000170751] Chr12:2651628 [GRCh38]
Chr12:2760794 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.5119G>A (p.Val1707Ile) single nucleotide variant Cardiovascular phenotype [RCV000617805]|Long QT syndrome [RCV000557600]|not provided [RCV001699138]|not specified [RCV000170755] Chr12:2679471 [GRCh38]
Chr12:2788637 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) single nucleotide variant Cardiovascular phenotype [RCV002345572]|Long QT syndrome [RCV001086159]|Timothy syndrome [RCV000763836]|not provided [RCV000170756] Chr12:2679472 [GRCh38]
Chr12:2788638 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) single nucleotide variant Cardiovascular phenotype [RCV000242415]|History of neurodevelopmental disorder [RCV000716297]|Long QT syndrome [RCV000547992]|not provided [RCV001721097]|not specified [RCV003398877] Chr12:2682583 [GRCh38]
Chr12:2791749 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln) single nucleotide variant CACNA1C-related condition [RCV003416060]|Cardiovascular phenotype [RCV002354417]|Long QT syndrome [RCV000631643]|Timothy syndrome [RCV002485063]|not specified [RCV001420870] Chr12:2688547 [GRCh38]
Chr12:2797713 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5929G>A (p.Val1977Ile) single nucleotide variant Cardiovascular phenotype [RCV003362706]|Long QT syndrome [RCV001050965]|not specified [RCV000170761] Chr12:2688591 [GRCh38]
Chr12:2797757 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) single nucleotide variant Brugada syndrome [RCV000622425]|Cardiovascular phenotype [RCV002354418]|Long QT syndrome [RCV000475281]|Timothy syndrome [RCV002478532]|not provided [RCV001812147] Chr12:2688637 [GRCh38]
Chr12:2797803 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr) single nucleotide variant Cardiovascular phenotype [RCV002354419]|Long QT syndrome [RCV002515226]|not provided [RCV003389757]|not specified [RCV000170763] Chr12:2688712 [GRCh38]
Chr12:2797878 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.6(CACNA1C):c.535A>G (p.Ile179Val) single nucleotide variant not provided [RCV000170765] Chr12:2449033 [GRCh38]
Chr12:2558199 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) single nucleotide variant Cardiovascular phenotype [RCV000247705]|History of neurodevelopmental disorder [RCV000717413]|Long QT syndrome [RCV001082904]|Timothy syndrome [RCV003224184]|not provided [RCV000170766]|not specified [RCV000212338] Chr12:2486257 [GRCh38]
Chr12:2595423 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) single nucleotide variant Cardiovascular phenotype [RCV002381542]|Long QT syndrome [RCV002517636]|Sudden cardiac death [RCV000208285]|Timothy syndrome [RCV002485064]|not provided [RCV000170767] Chr12:2493258 [GRCh38]
Chr12:2602424 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) single nucleotide variant Long QT syndrome [RCV001385670]|Timothy syndrome [RCV000192272]|Timothy syndrome [RCV002498853]|not provided [RCV000170769] Chr12:2504538 [GRCh38]
Chr12:2613704 [GRCh37]
Chr12:12p13.33
pathogenic|likely pathogenic|not provided
NM_001167623.2(CACNA1C):c.1216G>C (p.Gly406Arg) single nucleotide variant Timothy syndrome [RCV000208468]|not provided [RCV000170770] Chr12:2504538 [GRCh38]
Chr12:2613704 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn) single nucleotide variant Cardiovascular phenotype [RCV003298199]|Long QT syndrome [RCV000553290]|not provided [RCV000170772] Chr12:2512936 [GRCh38]
Chr12:2622102 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) single nucleotide variant Cardiovascular phenotype [RCV002390405]|Long QT syndrome [RCV000631680]|Wolff-Parkinson-White pattern [RCV000656158]|not provided [RCV000170777] Chr12:2556954 [GRCh38]
Chr12:2666120 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) single nucleotide variant Cardiovascular phenotype [RCV000618842]|Long QT syndrome [RCV000706039]|Timothy syndrome [RCV002485065]|not provided [RCV003144147]|not specified [RCV000170778] Chr12:2556956 [GRCh38]
Chr12:2666122 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1532G>A (p.Arg511Gln) single nucleotide variant Long QT syndrome [RCV000631598]|not provided [RCV000170779] Chr12:2566445 [GRCh38]
Chr12:2675611 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) single nucleotide variant Cardiovascular phenotype [RCV002399602]|Long QT syndrome [RCV000232889]|Long qt syndrome 8 [RCV002250585]|Timothy syndrome [RCV002287377]|not provided [RCV000170780] Chr12:2566465 [GRCh38]
Chr12:2675631 [GRCh37]
Chr12:12p13.33
pathogenic|likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.1931T>G (p.Leu644Trp) single nucleotide variant not provided [RCV000170785] Chr12:2581625 [GRCh38]
Chr12:2690791 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2113G>A (p.Gly705Arg) single nucleotide variant not provided [RCV000170786] Chr12:2582831 [GRCh38]
Chr12:2691997 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2327A>G (p.Lys776Arg) single nucleotide variant Cardiovascular phenotype [RCV002453576]|Long QT syndrome [RCV000701597]|not provided [RCV000170787] Chr12:2584605 [GRCh38]
Chr12:2693771 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2467A>G (p.Met823Val) single nucleotide variant not provided [RCV000170788] Chr12:2585841 [GRCh38]
Chr12:2695007 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser) single nucleotide variant Cardiovascular phenotype [RCV002426810]|Long QT syndrome [RCV000462694]|not provided [RCV000170790] Chr12:2593248 [GRCh38]
Chr12:2702414 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) single nucleotide variant Cardiovascular phenotype [RCV002453577]|Long QT syndrome [RCV000550877]|Long qt syndrome 8 [RCV000782180]|not provided [RCV001509415] Chr12:2593255 [GRCh38]
Chr12:2702421 [GRCh37]
Chr12:12p13.33
pathogenic|likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) single nucleotide variant Cardiovascular phenotype [RCV002453578]|Long QT syndrome [RCV001057570]|Timothy syndrome [RCV000853602]|Wolff-Parkinson-White pattern [RCV000656216]|not provided [RCV001704240] Chr12:2593261 [GRCh38]
Chr12:2702427 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.2581C>T (p.Pro861Ser) single nucleotide variant not provided [RCV000170793] Chr12:2593263 [GRCh38]
Chr12:2702429 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His) single nucleotide variant Autism spectrum disorder [RCV003126565]|Long QT syndrome [RCV000465144]|not provided [RCV000170794] Chr12:2595894 [GRCh38]
Chr12:2705060 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2795T>C (p.Ile932Thr) single nucleotide variant Cardiovascular phenotype [RCV000618294]|Long QT syndrome [RCV001852043]|not provided [RCV000170795] Chr12:2597231 [GRCh38]
Chr12:2706397 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2827A>G (p.Ile943Val) single nucleotide variant not provided [RCV000170796] Chr12:2597263 [GRCh38]
Chr12:2706429 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3461C>T (p.Ala1154Val) single nucleotide variant not provided [RCV000170798] Chr12:2608615 [GRCh38]
Chr12:2717781 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu) single nucleotide variant Cardiovascular phenotype [RCV003362707]|not provided [RCV000170799] Chr12:2610613 [GRCh38]
Chr12:2719779 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NM_001167623.2(CACNA1C):c.3871G>A (p.Val1291Ile) single nucleotide variant not provided [RCV000170800] Chr12:2633671 [GRCh38]
Chr12:2742837 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_001167623.2(CACNA1C):c.3912+1G>A single nucleotide variant not provided [RCV000170801] Chr12:2633713 [GRCh38]
Chr12:2742879 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr) single nucleotide variant Cardiovascular phenotype [RCV002316983]|Long QT syndrome [RCV001085234]|not provided [RCV000170802] Chr12:2634330 [GRCh38]
Chr12:2743496 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.3930A>T (p.Gln1310His) single nucleotide variant not provided [RCV000170804] Chr12:2648492 [GRCh38]
Chr12:2757658 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3946-45C>G single nucleotide variant not provided [RCV000170805]|not specified [RCV001699215] Chr12:2651595 [GRCh38]
Chr12:2760761 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.6(CACNA1C):c.4660G>A (p.Gly1554Arg) single nucleotide variant not provided [RCV000170809] Chr12:2668969 [GRCh38]
Chr12:2778135 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn) single nucleotide variant Cardiovascular phenotype [RCV002336393]|Long QT syndrome [RCV000798404]|Timothy syndrome [RCV002498855]|not provided [RCV000170811] Chr12:2674587 [GRCh38]
Chr12:2783753 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4927C>T (p.Pro1643Ser) single nucleotide variant Long QT syndrome [RCV001852044]|not provided [RCV000170812] Chr12:2677192 [GRCh38]
Chr12:2786358 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr) single nucleotide variant CACNA1C-related condition [RCV003416061]|Cardiovascular phenotype [RCV002336394]|Long QT syndrome [RCV000631689]|Timothy syndrome [RCV000853597]|not provided [RCV000170815] Chr12:2677841 [GRCh38]
Chr12:2787007 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.91A>G (p.Asn31Asp) single nucleotide variant Long QT syndrome [RCV000229376]|not provided [RCV000170816] Chr12:2115265 [GRCh38]
Chr12:2224431 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) single nucleotide variant Cardiovascular phenotype [RCV002381543]|Long QT syndrome [RCV001036246]|Timothy syndrome [RCV000765083]|not provided [RCV000170817] Chr12:2115272 [GRCh38]
Chr12:2224438 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val) single nucleotide variant Cardiovascular phenotype [RCV003298200]|Long QT syndrome [RCV002515227]|not provided [RCV000170818] Chr12:2115275 [GRCh38]
Chr12:2224441 [GRCh37]
Chr12:12p13.33
benign|uncertain significance
NM_000719.7(CACNA1C):c.154T>C (p.Trp52Arg) single nucleotide variant not specified [RCV000170819] Chr12:2115328 [GRCh38]
Chr12:2224494 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.450T>C (p.Asp150=) single nucleotide variant Long QT syndrome [RCV001494506] Chr12:2120403 [GRCh38]
Chr12:2229569 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2339+18C>T single nucleotide variant Long QT syndrome [RCV002054020]|Timothy syndrome [RCV002498852]|not specified [RCV000170747] Chr12:2584635 [GRCh38]
Chr12:2693801 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3943A>G (p.Met1315Val) single nucleotide variant Cardiovascular phenotype [RCV002372063]|Long QT syndrome [RCV000548497]|not provided [RCV001704238] Chr12:2648505 [GRCh38]
Chr12:2757671 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4727-9G>A single nucleotide variant Brugada syndrome [RCV000370158]|Long QT syndrome [RCV000631792]|Timothy syndrome [RCV000315543]|not provided [RCV001704239] Chr12:2674532 [GRCh38]
Chr12:2783698 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.50-18T>C single nucleotide variant Long QT syndrome [RCV002515225]|not specified [RCV000170753] Chr12:2115206 [GRCh38]
Chr12:2224372 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.50G>A (p.Gly17Asp) single nucleotide variant Long QT syndrome [RCV000706157]|not specified [RCV000170754] Chr12:2115224 [GRCh38]
Chr12:2224390 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1366A>C (p.Met456Leu) single nucleotide variant Long QT syndrome [RCV001302453]|not provided [RCV000170773] Chr12:2512960 [GRCh38]
Chr12:2622126 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1453G>A (p.Glu485Lys) single nucleotide variant Cardiovascular phenotype [RCV002390404]|Long QT syndrome [RCV001325303]|not provided [RCV000505746] Chr12:2550005 [GRCh38]
Chr12:2659171 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1481C>T (p.Ala494Val) single nucleotide variant Long QT syndrome [RCV001309826]|not provided [RCV000170776] Chr12:2550033 [GRCh38]
Chr12:2659199 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1693G>A (p.Ala565Thr) single nucleotide variant Long QT syndrome [RCV000554639]|not provided [RCV000170781] Chr12:2567592 [GRCh38]
Chr12:2676758 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1703C>T (p.Thr568Met) single nucleotide variant Long QT syndrome [RCV002517637]|Timothy syndrome [RCV002478533]|not provided [RCV000170782] Chr12:2567602 [GRCh38]
Chr12:2676768 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1823C>T (p.Thr608Ile) single nucleotide variant Cardiovascular phenotype [RCV002408737]|Long QT syndrome [RCV000530243]|not provided [RCV000170783] Chr12:2567722 [GRCh38]
Chr12:2676888 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1864G>A (p.Val622Ile) single nucleotide variant Cardiovascular phenotype [RCV000619791]|Long QT syndrome [RCV000805998]|not provided [RCV000170784] Chr12:2567763 [GRCh38]
Chr12:2676929 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys) single nucleotide variant Cardiovascular phenotype [RCV002426809]|Long QT syndrome [RCV001852042]|not provided [RCV000766674]|not specified [RCV000170789] Chr12:2585891 [GRCh38]
Chr12:2695057 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu) single nucleotide variant Cardiovascular phenotype [RCV000619014]|Long QT syndrome [RCV000631563]|not provided [RCV000170797]|not specified [RCV001192664] Chr12:2608578 [GRCh38]
Chr12:2717744 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3874G>T (p.Val1292Leu) single nucleotide variant Long QT syndrome [RCV002516549]|not provided [RCV000170803] Chr12:2634342 [GRCh38]
Chr12:2743508 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3946-44C>T single nucleotide variant Timothy syndrome [RCV002498854]|not provided [RCV000170806] Chr12:2651596 [GRCh38]
Chr12:2760762 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4040G>A (p.Arg1347Gln) single nucleotide variant not provided [RCV000170807] Chr12:2651734 [GRCh38]
Chr12:2760900 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4078C>G (p.Leu1360Val) single nucleotide variant CACNA1C-related condition [RCV001255604] Chr12:2653838 [GRCh38]
Chr12:2763004 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4216G>A (p.Val1406Met) single nucleotide variant Long QT syndrome [RCV002517638]|not provided [RCV000170810] Chr12:2655222 [GRCh38]
Chr12:2764388 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.70C>T (p.Arg24Cys) single nucleotide variant Cardiovascular phenotype [RCV002362868]|Long QT syndrome [RCV000473429]|not provided [RCV000170813] Chr12:2115244 [GRCh38]
Chr12:2224410 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg) single nucleotide variant Cardiovascular phenotype [RCV002345573]|Long QT syndrome [RCV001367040]|Timothy syndrome [RCV002492700]|not provided [RCV000170814]|not specified [RCV002265657] Chr12:2677760 [GRCh38]
Chr12:2786926 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met) single nucleotide variant Cardiovascular phenotype [RCV002453579]|Long QT syndrome [RCV000631657]|Timothy syndrome [RCV002485066]|not provided [RCV000170821] Chr12:2115410 [GRCh38]
Chr12:2224576 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.257A>G (p.Tyr86Cys) single nucleotide variant Long QT syndrome [RCV000810281]|not provided [RCV000170825] Chr12:2115431 [GRCh38]
Chr12:2224597 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1420G>T (p.Val474Phe) single nucleotide variant Long qt syndrome 8 [RCV003147376]|not provided [RCV000170837] Chr12:2549972 [GRCh38]
Chr12:2659138 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) single nucleotide variant Brugada syndrome [RCV000346531]|Cardiovascular phenotype [RCV000618192]|Long QT syndrome [RCV001084353]|Timothy syndrome [RCV000289278]|not provided [RCV000170838] Chr12:2556955 [GRCh38]
Chr12:2666121 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.2578C>G (p.Arg860Gly) single nucleotide variant not provided [RCV000170841] Chr12:2593260 [GRCh38]
Chr12:2702426 [GRCh37]
Chr12:12p13.33
pathogenic|likely pathogenic
NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn) single nucleotide variant Cardiovascular phenotype [RCV002321682]|Long QT syndrome [RCV000687893]|not provided [RCV000170843] Chr12:2607069 [GRCh38]
Chr12:2716235 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) single nucleotide variant Brugada syndrome [RCV000262517]|Cardiovascular phenotype [RCV002415722]|Long QT syndrome [RCV000794589]|Timothy syndrome [RCV000357698]|not provided [RCV000761812]|not specified [RCV000781192] Chr12:2115376 [GRCh38]
Chr12:2224542 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) single nucleotide variant Cardiovascular phenotype [RCV003165345]|Long QT syndrome [RCV000528382]|Timothy syndrome [RCV002478534]|not provided [RCV000170850] Chr12:2053564 [GRCh38]
Chr12:2162730 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn) single nucleotide variant Cardiovascular phenotype [RCV003165352]|Long QT syndrome [RCV001320102]|not provided [RCV000171204] Chr12:2115343 [GRCh38]
Chr12:2224509 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly) single nucleotide variant Timothy syndrome [RCV000177862]|not provided [RCV000724782] Chr12:2665600 [GRCh38]
Chr12:2774766 [GRCh37]
Chr12:12p13.33
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr) single nucleotide variant Inborn genetic diseases [RCV000190696]|Timothy syndrome [RCV001795308] Chr12:2608651 [GRCh38]
Chr12:2717817 [GRCh37]
Chr12:12p13.33
pathogenic|not provided
NM_000719.7(CACNA1C):c.3912+1G>A single nucleotide variant not provided [RCV001813836] Chr12:2634381 [GRCh38]
Chr12:2743547 [GRCh37]
Chr12:12p13.33
pathogenic|likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.2417T>C (p.Leu806Pro) single nucleotide variant Long QT syndrome [RCV001348123] Chr12:2585453 [GRCh38]
Chr12:2694619 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser) single nucleotide variant Long QT syndrome [RCV000805941]|Long qt syndrome 8 [RCV003333028]|Ventricular fibrillation, paroxysmal familial, type 1 [RCV000143870]|not provided [RCV000170768] Chr12:2504526 [GRCh38]
Chr12:2613692 [GRCh37]
Chr12:12p13.33
pathogenic|likely pathogenic
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) microsatellite Cardiovascular phenotype [RCV002312957]|Long QT syndrome [RCV000143871]|Timothy syndrome [RCV000988768]|not provided [RCV000724620] Chr12:2593224..2593226 [GRCh38]
Chr12:2702396..2702398 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.410A>G (p.Asn137Ser) single nucleotide variant Long QT syndrome [RCV001348453] Chr12:2120363 [GRCh38]
Chr12:2229529 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3405C>G (p.Ile1135Met) single nucleotide variant Long QT syndrome [RCV001302465] Chr12:2608559 [GRCh38]
Chr12:2717725 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1917C>T (p.Asn639=) single nucleotide variant Long QT syndrome [RCV001405463]|Timothy syndrome [RCV001331363] Chr12:2581611 [GRCh38]
Chr12:2690777 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1031C>T (p.Thr344Ile) single nucleotide variant Long QT syndrome [RCV002517653]|not provided [RCV000171611] Chr12:2493304 [GRCh38]
Chr12:2602470 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_001167623.2(CACNA1C):c.1165G>A (p.Val389Ile) single nucleotide variant not provided [RCV000171612] Chr12:2504487 [GRCh38]
Chr12:2613653 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1481+621C>T single nucleotide variant not provided [RCV000171613] Chr12:2550654 [GRCh38]
Chr12:2659820 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3946-51C>T single nucleotide variant CACNA1C-related condition [RCV003398881]|Inborn genetic diseases [RCV002517654]|not provided [RCV000171615] Chr12:2651589 [GRCh38]
Chr12:2760755 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys) single nucleotide variant Cardiovascular phenotype [RCV003165353]|Long QT syndrome [RCV001087277]|not provided [RCV000171616] Chr12:2679681 [GRCh38]
Chr12:2788847 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) single nucleotide variant Cardiovascular phenotype [RCV002345580]|Long QT syndrome [RCV001520593]|not provided [RCV000171617] Chr12:2679760 [GRCh38]
Chr12:2788926 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.5444+599C>A single nucleotide variant not provided [RCV000171618] Chr12:2680395 [GRCh38]
Chr12:2789561 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) single nucleotide variant Cardiomyopathy [RCV000852446]|Cardiovascular phenotype [RCV000617712]|Long QT syndrome [RCV000226828]|Timothy syndrome [RCV000988770]|Timothy syndrome [RCV002478546]|not provided [RCV000171619]|not specified [RCV000855639] Chr12:2686216 [GRCh38]
Chr12:2795382 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala) single nucleotide variant Cardiovascular phenotype [RCV000617997]|Long QT syndrome [RCV001084323]|not provided [RCV000171620] Chr12:2691126 [GRCh38]
Chr12:2800292 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.1391-2484C>T single nucleotide variant not specified [RCV000171799] Chr12:2547459 [GRCh38]
Chr12:2656625 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2734C>A (p.Leu912Ile) single nucleotide variant not provided [RCV000171614] Chr12:2595944 [GRCh38]
Chr12:2705110 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) single nucleotide variant Cardiovascular phenotype [RCV002399627]|Long QT syndrome [RCV001087382]|not provided [RCV000174495]|not specified [RCV003235094] Chr12:2567606 [GRCh38]
Chr12:2676772 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.2073C>T (p.Asn691=) single nucleotide variant Long QT syndrome [RCV001417895]|not provided [RCV000174690] Chr12:2581767 [GRCh38]
Chr12:2690933 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2068G>A (p.Asp690Asn) single nucleotide variant Long QT syndrome [RCV001304997]|Timothy syndrome [RCV002478563]|not provided [RCV000174691] Chr12:2581762 [GRCh38]
Chr12:2690928 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg) single nucleotide variant Cardiovascular phenotype [RCV000619811]|History of neurodevelopmental disorder [RCV000716181]|Long QT syndrome [RCV000755887]|not provided [RCV001675651]|not specified [RCV000171800] Chr12:2679735 [GRCh38]
Chr12:2788901 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) single nucleotide variant Brugada syndrome [RCV000211440]|Cardiovascular phenotype [RCV000617504]|History of neurodevelopmental disorder [RCV000716928]|Hypertrophic cardiomyopathy [RCV000852665]|Long QT syndrome [RCV000631698]|not provided [RCV003333962]|not specified [RCV000171801] Chr12:2685755 [GRCh38]
Chr12:2794921 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) single nucleotide variant Cardiovascular phenotype [RCV000619639]|History of neurodevelopmental disorder [RCV000715870]|Long QT syndrome [RCV001083389]|not provided [RCV000587387]|not specified [RCV000171802] Chr12:2685771 [GRCh38]
Chr12:2794937 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 copy number gain See cases [RCV000135350] Chr12:45740..6945196 [GRCh38]
Chr12:147099..7054359 [GRCh37]
Chr12:17360..6924620 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33(chr12:1678885-2546760)x3 copy number gain See cases [RCV000135390] Chr12:1678885..2546760 [GRCh38]
Chr12:1788051..2655926 [GRCh37]
Chr12:1658312..2526187 [NCBI36]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2251A>G (p.Ile751Val) single nucleotide variant not provided [RCV000175019] Chr12:2584529 [GRCh38]
Chr12:2693695 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh38/hg38 12p13.33(chr12:54452-2558097)x1 copy number loss See cases [RCV000136313] Chr12:54452..2558097 [GRCh38]
Chr12:282465..2667263 [GRCh37]
Chr12:33879..2537524 [NCBI36]
Chr12:12p13.33
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1 copy number loss See cases [RCV000136848] Chr12:199896..5807366 [GRCh38]
Chr12:309062..5916532 [GRCh37]
Chr12:179323..5786793 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33(chr12:80412-2850599)x1 copy number loss See cases [RCV000137693] Chr12:80412..2850599 [GRCh38]
Chr12:282465..2959765 [GRCh37]
Chr12:59839..2830026 [NCBI36]
Chr12:12p13.33
pathogenic|uncertain significance
GRCh38/hg38 12p13.33(chr12:2543999-2698761)x3 copy number gain See cases [RCV000137843] Chr12:2543999..2698761 [GRCh38]
Chr12:2653165..2807927 [GRCh37]
Chr12:2523426..2678188 [NCBI36]
Chr12:12p13.33
uncertain significance
GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1 copy number loss See cases [RCV000138558] Chr12:80412..4420585 [GRCh38]
Chr12:282465..4529751 [GRCh37]
Chr12:59839..4400012 [NCBI36]
Chr12:12p13.33-13.32
pathogenic
GRCh38/hg38 12p13.33(chr12:2688223-2726383)x3 copy number gain See cases [RCV000139196] Chr12:2688223..2726383 [GRCh38]
Chr12:2797389..2835549 [GRCh37]
Chr12:2667650..2705810 [NCBI36]
Chr12:12p13.33
uncertain significance
GRCh38/hg38 12p13.33(chr12:2688223-2726383)x1 copy number loss See cases [RCV000139197] Chr12:2688223..2726383 [GRCh38]
Chr12:2797389..2835549 [GRCh37]
Chr12:2667650..2705810 [NCBI36]
Chr12:12p13.33
uncertain significance
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1 copy number loss See cases [RCV000141250] Chr12:54427..3639603 [GRCh38]
Chr12:282465..3748769 [GRCh37]
Chr12:33854..3619030 [NCBI36]
Chr12:12p13.33-13.32
pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1 copy number loss See cases [RCV000140991] Chr12:54427..4004912 [GRCh38]
Chr12:282465..4114078 [GRCh37]
Chr12:33854..3984339 [NCBI36]
Chr12:12p13.33-13.32
pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2
pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:2619985-3489688)x3 copy number gain See cases [RCV000141599] Chr12:2619985..3489688 [GRCh38]
Chr12:2729151..3598854 [GRCh37]
Chr12:2599412..3469115 [NCBI36]
Chr12:12p13.33-13.32
uncertain significance
GRCh38/hg38 12p13.33-13.32(chr12:2188620-3361190)x3 copy number gain See cases [RCV000141614] Chr12:2188620..3361190 [GRCh38]
Chr12:2297786..3470356 [GRCh37]
Chr12:2168047..3340617 [NCBI36]
Chr12:12p13.33-13.32
uncertain significance
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33(chr12:121255-3003320)x1 copy number loss See cases [RCV000142595] Chr12:121255..3003320 [GRCh38]
Chr12:282465..3112486 [GRCh37]
Chr12:100682..2982747 [NCBI36]
Chr12:12p13.33
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3 copy number gain See cases [RCV000143357] Chr12:418421..6235914 [GRCh38]
Chr12:527587..6345080 [GRCh37]
Chr12:397848..6215341 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
NM_000719.7(CACNA1C):c.50-3C>T single nucleotide variant Cardiovascular phenotype [RCV003165365]|Long QT syndrome [RCV001050617]|See cases [RCV002252018]|not provided [RCV000175641] Chr12:2115221 [GRCh38]
Chr12:2224387 [GRCh37]
Chr12:12p13.33
conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) single nucleotide variant Cardiovascular phenotype [RCV000244258]|History of neurodevelopmental disorder [RCV000718424]|Long QT syndrome [RCV000233581]|not provided [RCV001651023]|not specified [RCV000152898] Chr12:2504904 [GRCh38]
Chr12:2614070 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1218-6C>T single nucleotide variant Long QT syndrome [RCV002514943]|not provided [RCV000152899] Chr12:2512806 [GRCh38]
Chr12:2621972 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.3049-10C>T single nucleotide variant Congestive heart failure [RCV000852663]|Long QT syndrome [RCV001081172]|not provided [RCV000587094]|not specified [RCV001706014] Chr12:2605669 [GRCh38]
Chr12:2714835 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.3373A>G (p.Ile1125Val) single nucleotide variant not provided [RCV000152901] Chr12:2608527 [GRCh38]
Chr12:2717693 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln) single nucleotide variant Cardiovascular phenotype [RCV002336309]|Long QT syndrome [RCV001036828]|Timothy syndrome [RCV002478443]|not provided [RCV000152902] Chr12:2610542 [GRCh38]
Chr12:2719708 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4140+4G>A single nucleotide variant Cardiovascular phenotype [RCV000617283]|Long QT syndrome [RCV000631662]|not provided [RCV000152903] Chr12:2653904 [GRCh38]
Chr12:2763070 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met) single nucleotide variant Cardiovascular phenotype [RCV003298161]|Long QT syndrome [RCV000468006]|not provided [RCV000723807] Chr12:2664914 [GRCh38]
Chr12:2774080 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=) single nucleotide variant Long QT syndrome [RCV001089113]|not provided [RCV000152905] Chr12:2679458 [GRCh38]
Chr12:2788624 [GRCh37]
Chr12:12p13.33
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) single nucleotide variant Cardiovascular phenotype [RCV000619374]|History of neurodevelopmental disorder [RCV000716945]|Long QT syndrome [RCV001084304]|not provided [RCV000176043] Chr12:2595976 [GRCh38]
Chr12:2705142 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) single nucleotide variant Long QT syndrome [RCV000157123]|Timothy syndrome [RCV000678964]|not provided [RCV000588534] Chr12:2593261 [GRCh38]
Chr12:2702427 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.5444G>C (p.Arg1815Thr) single nucleotide variant Long QT syndrome [RCV000157125] Chr12:2679796 [GRCh38]
Chr12:2788962 [GRCh37]
Chr12:12p13.33
benign|uncertain significance
NM_000719.7(CACNA1C):c.5599C>T (p.Arg1867Trp) single nucleotide variant Cardiovascular phenotype [RCV002345528]|Long QT syndrome [RCV001218818]|Ventricular tachycardia [RCV000157126] Chr12:2685761 [GRCh38]
Chr12:2794927 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.477+16040_477+23328del deletion Gestational diabetes mellitus uncontrolled [RCV000161661]|Large for gestational age [RCV000161659]|Normal pregnancy [RCV000161658]|Preeclampsia [RCV000161660] Chr12:2136470..2143758 [GRCh38]
Chr12:2245636..2252924 [GRCh37]
Chr12:12p13.33
not provided
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) single nucleotide variant Cardiovascular phenotype [RCV002336438]|Long QT syndrome [RCV000468918]|Timothy syndrome [RCV000522719]|not provided [RCV000724254]|not specified [RCV000178426] Chr12:2677207 [GRCh38]
Chr12:2786373 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5091+8G>A single nucleotide variant Long QT syndrome [RCV001487523]|not provided [RCV000178454] Chr12:2677875 [GRCh38]
Chr12:2787041 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.5202C>T (p.Gly1734=) single nucleotide variant Long QT syndrome [RCV001206136]|not provided [RCV000178484] Chr12:2679554 [GRCh38]
Chr12:2788720 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=) single nucleotide variant Cardiovascular phenotype [RCV002345622]|Long QT syndrome [RCV001085668]|not provided [RCV000178485] Chr12:2679659 [GRCh38]
Chr12:2788825 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) single nucleotide variant Cardiovascular phenotype [RCV002345623]|Long QT syndrome [RCV000525777]|not provided [RCV000724244] Chr12:2685806 [GRCh38]
Chr12:2794972 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=) single nucleotide variant Cardiovascular phenotype [RCV002354460]|Long QT syndrome [RCV001084032]|not provided [RCV000178564] Chr12:2686257 [GRCh38]
Chr12:2795423 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.5706A>G (p.Glu1902=) single nucleotide variant Long QT syndrome [RCV001082015]|not provided [RCV000178565] Chr12:2686191 [GRCh38]
Chr12:2795357 [GRCh37]
Chr12:12p13.33
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) single nucleotide variant Cardiovascular phenotype [RCV002354461]|Catecholaminergic polymorphic ventricular tachycardia [RCV000852447]|Long QT syndrome [RCV000232834]|Long qt syndrome 8 [RCV002272160]|not provided [RCV000178594] Chr12:2688778 [GRCh38]
Chr12:2797944 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) single nucleotide variant CACNA1C-related condition [RCV003422074]|Cardiovascular phenotype [RCV000619563]|Long QT syndrome [RCV000801058]|Timothy syndrome [RCV002485171]|not provided [RCV000178619] Chr12:2690943 [GRCh38]
Chr12:2800109 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=) single nucleotide variant Cardiovascular phenotype [RCV000622045]|Long QT syndrome [RCV001421487]|not provided [RCV000178795] Chr12:2457615 [GRCh38]
Chr12:2566781 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.1113+4C>T single nucleotide variant Cardiovascular phenotype [RCV002433780]|Long QT syndrome [RCV000795844]|not provided [RCV000179784] Chr12:2493390 [GRCh38]
Chr12:2602556 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1385G>A (p.Arg462Gln) single nucleotide variant Inborn genetic diseases [RCV001266177]|Long QT syndrome [RCV001852251]|not provided [RCV000180526] Chr12:2512979 [GRCh38]
Chr12:2622145 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) single nucleotide variant Cardiovascular phenotype [RCV000250335]|History of neurodevelopmental disorder [RCV000717524]|Long QT syndrome [RCV001082496]|Timothy syndrome [RCV003224191]|not provided [RCV000176619]|not specified [RCV001358770] Chr12:2607008 [GRCh38]
Chr12:2716174 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) single nucleotide variant Cardiovascular phenotype [RCV002314638]|Long QT syndrome [RCV001085297]|not provided [RCV000177898]|not specified [RCV001729429] Chr12:2666770 [GRCh38]
Chr12:2775936 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.4624-8G>A single nucleotide variant Long QT syndrome [RCV001089322]|not provided [RCV000724509]|not specified [RCV000177932] Chr12:2668925 [GRCh38]
Chr12:2778091 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.4727-10C>T single nucleotide variant Long QT syndrome [RCV000631872]|not provided [RCV000177972] Chr12:2674531 [GRCh38]
Chr12:2783697 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4760C>T (p.Ala1587Val) single nucleotide variant Cardiovascular phenotype [RCV002336435]|Long QT syndrome [RCV001374282]|not provided [RCV000177973] Chr12:2674574 [GRCh38]
Chr12:2783740 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5034G>A (p.Glu1678=) single nucleotide variant Long QT syndrome [RCV001427351] Chr12:2677810 [GRCh38]
Chr12:2786976 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1384C>G (p.Arg462Gly) single nucleotide variant Long QT syndrome [RCV000196550]|not provided [RCV003390941] Chr12:2512978 [GRCh38]
Chr12:2622144 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.153G>A (p.Ser51=) single nucleotide variant Cardiovascular phenotype [RCV003165470]|Long QT syndrome [RCV000198405]|not provided [RCV003390942] Chr12:2115327 [GRCh38]
Chr12:2224493 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr) single nucleotide variant Cardiovascular phenotype [RCV000617242]|Long QT syndrome [RCV000198546]|not provided [RCV001722107] Chr12:2679501 [GRCh38]
Chr12:2788667 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) single nucleotide variant Cardiac arrhythmia [RCV001842950]|Cardiovascular phenotype [RCV000617693]|History of neurodevelopmental disorder [RCV000717339]|Long QT syndrome [RCV001084051]|Timothy syndrome [RCV000519629]|not provided [RCV000357942] Chr12:2691054 [GRCh38]
Chr12:2800220 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.5895C>T (p.Pro1965=) single nucleotide variant Long QT syndrome [RCV001490463] Chr12:2688557 [GRCh38]
Chr12:2797723 [GRCh37]
Chr12:12p13.33
likely benign
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) single nucleotide variant Cardiovascular phenotype [RCV002450819]|Long QT syndrome [RCV001085791]|not provided [RCV000377275] Chr12:2585427 [GRCh38]
Chr12:2694593 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.5408G>A (p.Arg1803Gln) single nucleotide variant Cardiovascular phenotype [RCV002345730]|Long QT syndrome [RCV000205645] Chr12:2679760 [GRCh38]
Chr12:2788926 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3114G>C (p.Leu1038=) single nucleotide variant Cardiovascular phenotype [RCV000252905]|History of neurodevelopmental disorder [RCV000715597]|Long QT syndrome [RCV000203826]|not provided [RCV001689734]|not specified [RCV001193294] Chr12:2605744 [GRCh38]
Chr12:2714910 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5217C>T (p.Asp1739=) single nucleotide variant Cardiovascular phenotype [RCV002345729]|Long QT syndrome [RCV000204148]|not provided [RCV003390950] Chr12:2679569 [GRCh38]
Chr12:2788735 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) single nucleotide variant Long QT syndrome [RCV000208178]|Long qt syndrome 8 [RCV000782178] Chr12:2593252 [GRCh38]
Chr12:2702418 [GRCh37]
Chr12:12p13.33
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000719.7(CACNA1C):c.5534C>T (p.Thr1845Met) single nucleotide variant Long QT syndrome [RCV000208304] Chr12:2682639 [GRCh38]
Chr12:2791805 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5626A>G (p.Lys1876Glu) single nucleotide variant Sudden cardiac death [RCV000208488] Chr12:2685788 [GRCh38]
Chr12:2794954 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5143C>T (p.Arg1715Trp) single nucleotide variant Cardiovascular phenotype [RCV002336575]|Ductal breast carcinoma [RCV000207315]|Long QT syndrome [RCV002515534] Chr12:2679495 [GRCh38]
Chr12:2788661 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1074G>A (p.Gln358=) single nucleotide variant Cardiovascular phenotype [RCV000621209]|Long QT syndrome [RCV000229663]|Timothy syndrome [RCV002500766]|not specified [RCV000433169] Chr12:2493347 [GRCh38]
Chr12:2602513 [GRCh37]
Chr12:12p13.33
likely pathogenic|benign|likely benign
NM_000719.7(CACNA1C):c.213G>A (p.Ala71=) single nucleotide variant Cardiovascular phenotype [RCV000243680]|History of neurodevelopmental disorder [RCV000716456]|Long QT syndrome [RCV001082865]|not provided [RCV000590077] Chr12:2115387 [GRCh38]
Chr12:2224553 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5391C>G (p.Pro1797=) single nucleotide variant Cardiovascular phenotype [RCV000622138]|Long QT syndrome [RCV000228037]|not provided [RCV001536317] Chr12:2679743 [GRCh38]
Chr12:2788909 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5214C>T (p.Gly1738=) single nucleotide variant Cardiovascular phenotype [RCV000617424]|Long QT syndrome [RCV000228686]|not provided [RCV001610536]|not specified [RCV001699255] Chr12:2679566 [GRCh38]
Chr12:2788732 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) single nucleotide variant Cardiovascular phenotype [RCV000618584]|Long QT syndrome [RCV000463570]|Short QT Syndrome 4 [RCV000415626]|Timothy syndrome [RCV000656705]|Timothy syndrome [RCV002478822]|not provided [RCV000725545]|not specified [RCV000223923] Chr12:2610661 [GRCh38]
Chr12:2719827 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6111G>A (p.Val2037=) single nucleotide variant Cardiovascular phenotype [RCV002354646]|Long QT syndrome [RCV000230045] Chr12:2688773 [GRCh38]
Chr12:2797939 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile) single nucleotide variant Cardiovascular phenotype [RCV000619708]|Long QT syndrome [RCV000232392]|Long qt syndrome 8 [RCV003389323]|Timothy syndrome [RCV002503893] Chr12:2688658 [GRCh38]
Chr12:2797824 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2382G>A (p.Pro794=) single nucleotide variant Cardiovascular phenotype [RCV002450676]|Long QT syndrome [RCV000230548] Chr12:2585418 [GRCh38]
Chr12:2694584 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3347G>C (p.Gly1116Ala) single nucleotide variant Long QT syndrome [RCV000228240] Chr12:2607121 [GRCh38]
Chr12:2716287 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=) single nucleotide variant Cardiovascular phenotype [RCV002354645]|Long QT syndrome [RCV001413434]|not provided [RCV000388329] Chr12:2688752 [GRCh38]
Chr12:2797918 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12p13.33(chr12:1555573-2655985)x3 copy number gain See cases [RCV000240005] Chr12:1555573..2655985 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2664-6G>A single nucleotide variant Long QT syndrome [RCV000526875] Chr12:2595868 [GRCh38]
Chr12:2705034 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5600G>A (p.Arg1867Gln) single nucleotide variant Cardiovascular phenotype [RCV000621335]|Long QT syndrome [RCV000706551] Chr12:2685762 [GRCh38]
Chr12:2794928 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4242C>T (p.Thr1414=) single nucleotide variant Cardiovascular phenotype [RCV000622200]|Long QT syndrome [RCV002066946] Chr12:2664834 [GRCh38]
Chr12:2774000 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1582T>G (p.Trp528Gly) single nucleotide variant Primary dilated cardiomyopathy [RCV000584827] Chr12:2566495 [GRCh38]
Chr12:2675661 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1 copy number loss See cases [RCV000239873] Chr12:222888..3931052 [GRCh37]
Chr12:12p13.33-13.32
pathogenic
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr) single nucleotide variant Cardiovascular phenotype [RCV000620862]|History of neurodevelopmental disorder [RCV000717959]|Long QT syndrome [RCV001213243]|not provided [RCV002261133] Chr12:2651643 [GRCh38]
Chr12:2760809 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4393T>C (p.Phe1465Leu) single nucleotide variant Cardiovascular phenotype [RCV000246083] Chr12:2664985 [GRCh38]
Chr12:2774151 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6213A>T (p.Ile2071=) single nucleotide variant Cardiovascular phenotype [RCV000248434]|Long QT syndrome [RCV001523231] Chr12:2690995 [GRCh38]
Chr12:2800161 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=) single nucleotide variant Brugada syndrome [RCV000311551]|Cardiovascular phenotype [RCV000253383]|Long QT syndrome [RCV000864490]|Timothy syndrome [RCV000275587]|not provided [RCV001705399] Chr12:2674575 [GRCh38]
Chr12:2783741 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5865A>C (p.Pro1955=) single nucleotide variant Cardiovascular phenotype [RCV000253658] Chr12:2688527 [GRCh38]
Chr12:2797693 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5898A>C (p.Pro1966=) single nucleotide variant Cardiovascular phenotype [RCV000253784] Chr12:2688560 [GRCh38]
Chr12:2797726 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg) single nucleotide variant Cardiovascular phenotype [RCV000248947]|History of neurodevelopmental disorder [RCV000718466]|Long QT syndrome [RCV000866145]|not specified [RCV001194038] Chr12:2686232 [GRCh38]
Chr12:2795398 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=) single nucleotide variant Cardiovascular phenotype [RCV000251364]|Long QT syndrome [RCV000467797]|not provided [RCV001812756]|not specified [RCV002307472] Chr12:2549971 [GRCh38]
Chr12:2659137 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.2988C>T (p.Ile996=) single nucleotide variant Cardiovascular phenotype [RCV000251401] Chr12:2605108 [GRCh38]
Chr12:2714274 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1217+11C>T single nucleotide variant not specified [RCV000253804] Chr12:2504956 [GRCh38]
Chr12:2614122 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3904G>A (p.Glu1302Lys) single nucleotide variant Cardiovascular phenotype [RCV000246740]|Long QT syndrome [RCV001364253] Chr12:2634372 [GRCh38]
Chr12:2743538 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5499G>A (p.Gln1833=) single nucleotide variant Cardiovascular phenotype [RCV000247244] Chr12:2682604 [GRCh38]
Chr12:2791770 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5873C>T (p.Thr1958Ile) single nucleotide variant Cardiovascular phenotype [RCV000249618] Chr12:2688535 [GRCh38]
Chr12:2797701 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1125C>T (p.Ala375=) single nucleotide variant Cardiovascular phenotype [RCV002438300]|Long QT syndrome [RCV000528646] Chr12:2504853 [GRCh38]
Chr12:2614019 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) single nucleotide variant Cardiovascular phenotype [RCV002347952]|Long QT syndrome [RCV001078611]|not provided [RCV000726270]|not specified [RCV000245282] Chr12:2611932 [GRCh38]
Chr12:2721098 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_000719.7(CACNA1C):c.107C>T (p.Ala36Val) single nucleotide variant Cardiovascular phenotype [RCV000245532]|Long QT syndrome [RCV001063656]|not provided [RCV002461052] Chr12:2115281 [GRCh38]
Chr12:2224447 [GRCh37]
Chr12:12p13.33
benign|uncertain significance
NM_000719.7(CACNA1C):c.6007G>A (p.Gly2003Arg) single nucleotide variant Cardiovascular phenotype [RCV000245759]|Long QT syndrome [RCV001854973] Chr12:2688669 [GRCh38]
Chr12:2797835 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) single nucleotide variant Cardiovascular phenotype [RCV000248176]|Long QT syndrome [RCV001084888]|not provided [RCV000379802] Chr12:2457673 [GRCh38]
Chr12:2566839 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.1420G>A (p.Val474Ile) single nucleotide variant Cardiovascular phenotype [RCV000248178]|Long QT syndrome [RCV001326287] Chr12:2549972 [GRCh38]
Chr12:2659138 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2427C>T (p.Ile809=) single nucleotide variant Cardiovascular phenotype [RCV000243333]|Long QT syndrome [RCV001495836] Chr12:2585463 [GRCh38]
Chr12:2694629 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.247C>T (p.Arg83Trp) single nucleotide variant Brugada syndrome [RCV000509530]|Cardiovascular phenotype [RCV000245929]|Long QT syndrome [RCV001235473] Chr12:2115421 [GRCh38]
Chr12:2224587 [GRCh37]
Chr12:12p13.33
uncertain significance|not provided
NM_000719.7(CACNA1C):c.459C>T (p.Asn153=) single nucleotide variant Cardiovascular phenotype [RCV000245971]|Long QT syndrome [RCV001087981]|not provided [RCV003165700] Chr12:2120412 [GRCh38]
Chr12:2229578 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1290A>G (p.Leu430=) single nucleotide variant Cardiovascular phenotype [RCV000248318] Chr12:2512884 [GRCh38]
Chr12:2622050 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3736C>T (p.Leu1246=) single nucleotide variant Cardiovascular phenotype [RCV000253244] Chr12:2611921 [GRCh38]
Chr12:2721087 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4075-4C>A single nucleotide variant Cardiovascular phenotype [RCV000253253]|Long QT syndrome [RCV001422387]|not provided [RCV000471974] Chr12:2653831 [GRCh38]
Chr12:2762997 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.*1911A>C single nucleotide variant Brugada syndrome [RCV000373812]|Timothy syndrome [RCV000281728] Chr12:2693110 [GRCh38]
Chr12:2802276 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4152A>G (p.Lys1384=) single nucleotide variant Cardiovascular phenotype [RCV002333252] Chr12:2655158 [GRCh38]
Chr12:2764324 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.*4176G>T single nucleotide variant Brugada syndrome [RCV000356269]|Timothy syndrome [RCV000265725] Chr12:2695375 [GRCh38]
Chr12:2804541 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1520G>A (p.Arg507His) single nucleotide variant Brugada syndrome 3 [RCV002466485]|Long QT syndrome [RCV000631549] Chr12:2566433 [GRCh38]
Chr12:2675599 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*4598A>G single nucleotide variant Brugada syndrome [RCV000405021]|Timothy syndrome [RCV000301941] Chr12:2695797 [GRCh38]
Chr12:2804963 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.906G>A (p.Glu302=) single nucleotide variant Cardiovascular phenotype [RCV002374526]|Long QT syndrome [RCV000631857]|not provided [RCV001707643] Chr12:2486252 [GRCh38]
Chr12:2595418 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4726+13G>A single nucleotide variant Long QT syndrome [RCV002056288]|not specified [RCV000616420] Chr12:2669048 [GRCh38]
Chr12:2778214 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.*2288G>A single nucleotide variant Brugada syndrome [RCV000396861]|Timothy syndrome [RCV000346466] Chr12:2693487 [GRCh38]
Chr12:2802653 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*3031T>A single nucleotide variant Brugada syndrome [RCV000328239]|Timothy syndrome [RCV000266124] Chr12:2694230 [GRCh38]
Chr12:2803396 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*2103C>T single nucleotide variant Brugada syndrome [RCV000403896]|Timothy syndrome [RCV000284349] Chr12:2693302 [GRCh38]
Chr12:2802468 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3946-10C>T single nucleotide variant Long QT syndrome [RCV000465888] Chr12:2651630 [GRCh38]
Chr12:2760796 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.212C>T (p.Ala71Val) single nucleotide variant Cardiovascular phenotype [RCV002418161]|Long QT syndrome [RCV000698292] Chr12:2115386 [GRCh38]
Chr12:2224552 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1734G>A (p.Leu578=) single nucleotide variant Cardiovascular phenotype [RCV002317832]|Long QT syndrome [RCV000470871] Chr12:2567633 [GRCh38]
Chr12:2676799 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.*290G>A single nucleotide variant Brugada syndrome [RCV000321991]|Timothy syndrome [RCV000266833] Chr12:2691489 [GRCh38]
Chr12:2800655 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*2042G>A single nucleotide variant Brugada syndrome [RCV000342734]|Timothy syndrome [RCV000285384] Chr12:2693241 [GRCh38]
Chr12:2802407 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.-181G>A single nucleotide variant not provided [RCV001680401] Chr12:2053382 [GRCh38]
Chr12:2162548 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3717+11G>A single nucleotide variant Long QT syndrome [RCV002072366]|not provided [RCV001613760]|not specified [RCV001825011] Chr12:2610710 [GRCh38]
Chr12:2719876 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.108G>A (p.Ala36=) single nucleotide variant Long QT syndrome [RCV002072929]|not provided [RCV001620492] Chr12:2115282 [GRCh38]
Chr12:2224448 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1558G>A (p.Ala520Thr) single nucleotide variant Long QT syndrome [RCV000704148] Chr12:2566471 [GRCh38]
Chr12:2675637 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4526+12G>C single nucleotide variant Long QT syndrome [RCV002186630] Chr12:2665720 [GRCh38]
Chr12:2774886 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met) single nucleotide variant Cardiovascular phenotype [RCV002348044]|Long QT syndrome [RCV000631690]|not provided [RCV003480589] Chr12:2682597 [GRCh38]
Chr12:2791763 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) single nucleotide variant Cardiovascular phenotype [RCV002314047]|Long QT syndrome [RCV000457023]|Timothy syndrome [RCV002504068]|not provided [RCV001702420]|not specified [RCV000425928] Chr12:2610549 [GRCh38]
Chr12:2719715 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.2232A>C (p.Leu744=) single nucleotide variant Cardiovascular phenotype [RCV002429261]|Long QT syndrome [RCV000462624]|not provided [RCV001723892]|not specified [RCV000421609] Chr12:2584510 [GRCh38]
Chr12:2693676 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.*769A>T single nucleotide variant Brugada syndrome [RCV000300608]|Timothy syndrome [RCV000353179] Chr12:2691968 [GRCh38]
Chr12:2801134 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*4090G>A single nucleotide variant Brugada syndrome [RCV000314251]|Timothy syndrome [RCV000354985] Chr12:2695289 [GRCh38]
Chr12:2804455 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.*1689A>G single nucleotide variant Brugada syndrome [RCV000330805]|Timothy syndrome [RCV000273372] Chr12:2692888 [GRCh38]
Chr12:2802054 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*261G>C single nucleotide variant Brugada syndrome [RCV000319201]|Timothy syndrome [RCV000273451] Chr12:2691460 [GRCh38]
Chr12:2800626 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*2707C>G single nucleotide variant Brugada syndrome [RCV000343750]|Timothy syndrome [RCV000291152] Chr12:2693906 [GRCh38]
Chr12:2803072 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*5968A>C single nucleotide variant Brugada syndrome [RCV000348898]|Timothy syndrome [RCV000291675] Chr12:2697167 [GRCh38]
Chr12:2806333 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*3754T>G single nucleotide variant Brugada syndrome [RCV000389280]|Timothy syndrome [RCV000276176] Chr12:2694953 [GRCh38]
Chr12:2804119 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.300G>A (p.Pro100=) single nucleotide variant Long QT syndrome [RCV000869918]|not provided [RCV001683239] Chr12:2115474 [GRCh38]
Chr12:2224640 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.*267G>C single nucleotide variant Brugada syndrome [RCV000260751]|Timothy syndrome [RCV000355633] Chr12:2691466 [GRCh38]
Chr12:2800632 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*4507G>A single nucleotide variant Brugada syndrome [RCV000335872]|Timothy syndrome [RCV000404173] Chr12:2695706 [GRCh38]
Chr12:2804872 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*4226C>T single nucleotide variant Brugada syndrome [RCV000381630]|Timothy syndrome [RCV000291830] Chr12:2695425 [GRCh38]
Chr12:2804591 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*4273A>G single nucleotide variant Brugada syndrome [RCV000351930]|Timothy syndrome [RCV000292266] Chr12:2695472 [GRCh38]
Chr12:2804638 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.*3139C>A single nucleotide variant Brugada syndrome [RCV000349703]|Timothy syndrome [RCV000292363] Chr12:2694338 [GRCh38]
Chr12:2803504 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*2946C>T single nucleotide variant Brugada syndrome [RCV000306125]|Timothy syndrome [RCV000358529] Chr12:2694145 [GRCh38]
Chr12:2803311 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4323G>A (p.Thr1441=) single nucleotide variant Cardiovascular phenotype [RCV002328822]|Long QT syndrome [RCV001445226]|not provided [RCV000631738] Chr12:2664915 [GRCh38]
Chr12:2774081 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.*4467del deletion Brugada syndrome [RCV000389333]|Timothy syndrome [RCV000295032] Chr12:2695666 [GRCh38]
Chr12:2804832 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*5970A>C single nucleotide variant Brugada syndrome [RCV000403132]|Timothy syndrome [RCV000295098] Chr12:2697169 [GRCh38]
Chr12:2806335 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.*4532G>A single nucleotide variant Brugada syndrome [RCV000281898]|Timothy syndrome [RCV000336889] Chr12:2695731 [GRCh38]
Chr12:2804897 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5785-10G>A single nucleotide variant Brugada syndrome [RCV000371388]|Timothy syndrome [RCV000276830] Chr12:2688437 [GRCh38]
Chr12:2797603 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*2712T>C single nucleotide variant Brugada syndrome [RCV000406187]|Timothy syndrome [RCV000295492] Chr12:2693911 [GRCh38]
Chr12:2803077 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*6533T>C single nucleotide variant Brugada syndrome [RCV000323856]|Timothy syndrome [RCV000362186] Chr12:2697732 [GRCh38]
Chr12:2806898 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*5261A>G single nucleotide variant Brugada syndrome [RCV000316612]|Timothy syndrome [RCV000261354] Chr12:2696460 [GRCh38]
Chr12:2805626 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*4299C>A single nucleotide variant Brugada syndrome [RCV000403574]|Timothy syndrome [RCV000298036] Chr12:2695498 [GRCh38]
Chr12:2804664 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3948C>T (p.Asn1316=) single nucleotide variant Cardiovascular phenotype [RCV000621492]|Long QT syndrome [RCV000474393]|not specified [RCV000428070] Chr12:2651642 [GRCh38]
Chr12:2760808 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.*868C>T single nucleotide variant Brugada syndrome [RCV000361019]|Timothy syndrome [RCV000263990] Chr12:2692067 [GRCh38]
Chr12:2801233 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*5267C>A single nucleotide variant Brugada syndrome [RCV000375899]|Timothy syndrome [RCV000281050] Chr12:2696466 [GRCh38]
Chr12:2805632 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.*3042A>G single nucleotide variant Brugada syndrome [RCV000385007]|Timothy syndrome [RCV000269635] Chr12:2694241 [GRCh38]
Chr12:2803407 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*960A>G single nucleotide variant Brugada syndrome [RCV000327008]|Timothy syndrome [RCV000269670] Chr12:2692159 [GRCh38]
Chr12:2801325 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*1569G>A single nucleotide variant Brugada syndrome [RCV000362329]|Timothy syndrome [RCV000270012] Chr12:2692768 [GRCh38]
Chr12:2801934 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*3903del deletion Brugada syndrome [RCV000403829]|Timothy syndrome [RCV000342618] Chr12:2695102 [GRCh38]
Chr12:2804268 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.*5968_*5970del deletion Brugada syndrome [RCV000384540]|Timothy syndrome [RCV000343953] Chr12:2697167..2697169 [GRCh38]
Chr12:2806333..2806335 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*4831T>A single nucleotide variant Brugada syndrome [RCV000273586]|Timothy syndrome [RCV000368086] Chr12:2696030 [GRCh38]
Chr12:2805196 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.*2825A>G single nucleotide variant Brugada syndrome [RCV000298001]|Timothy syndrome [RCV000393304] Chr12:2694024 [GRCh38]
Chr12:2803190 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro) single nucleotide variant Cardiovascular phenotype [RCV002347983]|Long QT syndrome [RCV000538195]|Timothy syndrome [RCV002487172]|not provided [RCV000305564] Chr12:2685833 [GRCh38]
Chr12:2794999 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser) single nucleotide variant Long QT syndrome [RCV000631696]|not provided [RCV000305674] Chr12:2679492 [GRCh38]
Chr12:2788658 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=) single nucleotide variant Brugada syndrome [RCV000390000]|Cardiovascular phenotype [RCV002356419]|Long QT syndrome [RCV000552154]|Timothy syndrome [RCV000345641]|not specified [RCV000436421] Chr12:2449077 [GRCh38]
Chr12:2558243 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.*2408G>A single nucleotide variant Brugada syndrome [RCV000261989]|Timothy syndrome [RCV000368318] Chr12:2693607 [GRCh38]
Chr12:2802773 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*652_*659GCC[2]GGGAAGGGGCCGCCGG[1] microsatellite Brugada syndrome [RCV000311296]|Timothy syndrome [RCV000394635] Chr12:2691850..2691851 [GRCh38]
Chr12:2801016..2801017 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.*1558T>A single nucleotide variant Brugada syndrome [RCV000310644]|Timothy syndrome [RCV000271892] Chr12:2692757 [GRCh38]
Chr12:2801923 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*5859C>T single nucleotide variant Brugada syndrome [RCV000264205]|Timothy syndrome [RCV000323985] Chr12:2697058 [GRCh38]
Chr12:2806224 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*4235C>T single nucleotide variant Brugada syndrome [RCV000402636]|Timothy syndrome [RCV000346875] Chr12:2695434 [GRCh38]
Chr12:2804600 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*6193G>A single nucleotide variant Brugada syndrome [RCV000301878]|Timothy syndrome [RCV000396497] Chr12:2697392 [GRCh38]
Chr12:2806558 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*2407C>T single nucleotide variant Brugada syndrome [RCV000311364]|Timothy syndrome [RCV000396817] Chr12:2693606 [GRCh38]
Chr12:2802772 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*3611C>T single nucleotide variant Brugada syndrome [RCV000364896]|Timothy syndrome [RCV000272679] Chr12:2694810 [GRCh38]
Chr12:2803976 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*4411C>T single nucleotide variant Brugada syndrome [RCV000384624]|Timothy syndrome [RCV000325366] Chr12:2695610 [GRCh38]
Chr12:2804776 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.537C>T (p.Ile179=) single nucleotide variant Cardiovascular phenotype [RCV000622005]|Long QT syndrome [RCV000466525]|not provided [RCV001653513] Chr12:2449035 [GRCh38]
Chr12:2558201 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.*1300C>T single nucleotide variant Brugada syndrome [RCV000341929]|Timothy syndrome [RCV000397633] Chr12:2692499 [GRCh38]
Chr12:2801665 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*4611T>G single nucleotide variant Brugada syndrome [RCV000342540]|Timothy syndrome [RCV000398004] Chr12:2695810 [GRCh38]
Chr12:2804976 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.*3338C>T single nucleotide variant Brugada syndrome [RCV000303099]|Timothy syndrome [RCV000398029] Chr12:2694537 [GRCh38]
Chr12:2803703 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4727-6C>T single nucleotide variant Long QT syndrome [RCV001086045]|not provided [RCV000277918] Chr12:2674535 [GRCh38]
Chr12:2783701 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.*3687A>C single nucleotide variant Brugada syndrome [RCV000363799]|Timothy syndrome [RCV000306741] Chr12:2694886 [GRCh38]
Chr12:2804052 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*6553T>G single nucleotide variant Brugada syndrome [RCV000269846]|Timothy syndrome [RCV000327308] Chr12:2697752 [GRCh38]
Chr12:2806918 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*3178A>T single nucleotide variant Brugada syndrome [RCV000281803]|Timothy syndrome [RCV000373731] Chr12:2694377 [GRCh38]
Chr12:2803543 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*4758G>T single nucleotide variant Brugada syndrome [RCV000362136]|Timothy syndrome [RCV000307468] Chr12:2695957 [GRCh38]
Chr12:2805123 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*5549A>C single nucleotide variant Brugada syndrome [RCV000405685]|Timothy syndrome [RCV000307341] Chr12:2696748 [GRCh38]
Chr12:2805914 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.363C>T (p.Val121=) single nucleotide variant Cardiovascular phenotype [RCV002450804]|Long QT syndrome [RCV002059098]|not provided [RCV000283453] Chr12:2115537 [GRCh38]
Chr12:2224703 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met) single nucleotide variant Cardiovascular phenotype [RCV002401971]|Long QT syndrome [RCV000983967]|not provided [RCV001722383] Chr12:2567572 [GRCh38]
Chr12:2676738 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.1752C>T (p.Phe584=) single nucleotide variant Long QT syndrome [RCV002059224]|not provided [RCV000352122] Chr12:2567651 [GRCh38]
Chr12:2676817 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.*2309C>T single nucleotide variant Brugada syndrome [RCV000369738]|Timothy syndrome [RCV000308015] Chr12:2693508 [GRCh38]
Chr12:2802674 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*4810C>T single nucleotide variant Brugada syndrome [RCV000272430]|Timothy syndrome [RCV000308837] Chr12:2696009 [GRCh38]
Chr12:2805175 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1002C>T (p.Pro334=) single nucleotide variant Cardiovascular phenotype [RCV002392849]|Long QT syndrome [RCV000473622]|not provided [RCV001672468] Chr12:2493275 [GRCh38]
Chr12:2602441 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.*6023T>C single nucleotide variant Brugada syndrome [RCV000403324]|Timothy syndrome [RCV000352264] Chr12:2697222 [GRCh38]
Chr12:2806388 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*2732T>G single nucleotide variant Brugada syndrome [RCV000393300]|Timothy syndrome [RCV000352570] Chr12:2693931 [GRCh38]
Chr12:2803097 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*5399T>C single nucleotide variant Brugada syndrome [RCV000340701]|Timothy syndrome [RCV000376634] Chr12:2696598 [GRCh38]
Chr12:2805764 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*3892C>T single nucleotide variant Brugada syndrome [RCV000282911]|Timothy syndrome [RCV000377391] Chr12:2695091 [GRCh38]
Chr12:2804257 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=) single nucleotide variant Cardiovascular phenotype [RCV002379112]|Long QT syndrome [RCV000541239]|not provided [RCV000284044] Chr12:2512935 [GRCh38]
Chr12:2622101 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) single nucleotide variant Cardiovascular phenotype [RCV000619626]|Long QT syndrome [RCV001081369]|not provided [RCV000352727]|not specified [RCV001256871] Chr12:2608685 [GRCh38]
Chr12:2717851 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.4726+9G>A single nucleotide variant Long QT syndrome [RCV000540252]|not specified [RCV000424344] Chr12:2669044 [GRCh38]
Chr12:2778210 [GRCh37]
Chr12:12p13.33
benign|uncertain significance
NM_000719.7(CACNA1C):c.*2456G>T single nucleotide variant Brugada syndrome [RCV000319365]|Timothy syndrome [RCV000353219] Chr12:2693655 [GRCh38]
Chr12:2802821 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3201G>A (p.Ala1067=) single nucleotide variant Cardiovascular phenotype [RCV000617397]|Long QT syndrome [RCV000553293]|not provided [RCV001541231] Chr12:2606655 [GRCh38]
Chr12:2715821 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.*2857G>A single nucleotide variant Brugada syndrome [RCV000267401]|Timothy syndrome [RCV000354642] Chr12:2694056 [GRCh38]
Chr12:2803222 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*2817G>A single nucleotide variant Brugada syndrome [RCV000313175]|Timothy syndrome [RCV000356208] Chr12:2694016 [GRCh38]
Chr12:2803182 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*2623A>G single nucleotide variant Brugada syndrome [RCV000282984]|Timothy syndrome [RCV000379761] Chr12:2693822 [GRCh38]
Chr12:2802988 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*5585G>A single nucleotide variant Brugada syndrome [RCV000347992]|Timothy syndrome [RCV000404293] Chr12:2696784 [GRCh38]
Chr12:2805950 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*1151C>T single nucleotide variant Brugada syndrome [RCV000298667]|Timothy syndrome [RCV000405519] Chr12:2692350 [GRCh38]
Chr12:2801516 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3671del (p.Leu1224fs) deletion not provided [RCV000322339] Chr12:2610653 [GRCh38]
Chr12:2719819 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*5147A>G single nucleotide variant Brugada syndrome [RCV000388511]|Timothy syndrome [RCV000333993] Chr12:2696346 [GRCh38]
Chr12:2805512 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*3223C>A single nucleotide variant Brugada syndrome [RCV000405065]|Timothy syndrome [RCV000334448] Chr12:2694422 [GRCh38]
Chr12:2803588 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*2651C>T single nucleotide variant Brugada syndrome [RCV000321426]|Timothy syndrome [RCV000383022] Chr12:2693850 [GRCh38]
Chr12:2803016 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*6281G>A single nucleotide variant Brugada syndrome [RCV000359057]|Timothy syndrome [RCV000266754] Chr12:2697480 [GRCh38]
Chr12:2806646 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2813T>C (p.Ile938Thr) single nucleotide variant Cardiovascular phenotype [RCV002436155]|Long QT syndrome [RCV000797310]|not provided [RCV000486236] Chr12:2597249 [GRCh38]
Chr12:2706415 [GRCh37]
Chr12:12p13.33
benign|uncertain significance
NM_000719.7(CACNA1C):c.*3832A>C single nucleotide variant Brugada syndrome [RCV000281970]|Timothy syndrome [RCV000336972] Chr12:2695031 [GRCh38]
Chr12:2804197 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) single nucleotide variant Long QT syndrome [RCV000808464]|Timothy syndrome [RCV000337286]|Timothy syndrome [RCV002494962]|not provided [RCV000994771] Chr12:2585473 [GRCh38]
Chr12:2694639 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.*4410G>T single nucleotide variant Brugada syndrome [RCV000270260]|Timothy syndrome [RCV000360195] Chr12:2695609 [GRCh38]
Chr12:2804775 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*284C>T single nucleotide variant not provided [RCV000860173] Chr12:2691483 [GRCh38]
Chr12:2800649 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.*1125G>A single nucleotide variant Brugada syndrome [RCV000281524]|Timothy syndrome [RCV000338862] Chr12:2692324 [GRCh38]
Chr12:2801490 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3330C>T (p.Thr1110=) single nucleotide variant Cardiovascular phenotype [RCV002321981]|Long QT syndrome [RCV000866191] Chr12:2607104 [GRCh38]
Chr12:2716270 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3368G>A (p.Arg1123His) single nucleotide variant Cardiovascular phenotype [RCV002450857]|Long QT syndrome [RCV001243195] Chr12:2608522 [GRCh38]
Chr12:2717688 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr) single nucleotide variant Cardiovascular phenotype [RCV002338886]|Long QT syndrome [RCV001034179]|Timothy syndrome [RCV000317439]|not provided [RCV001701945] Chr12:2677799 [GRCh38]
Chr12:2786965 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.*3804C>T single nucleotide variant Brugada syndrome [RCV000371827]|Timothy syndrome [RCV000317166] Chr12:2695003 [GRCh38]
Chr12:2804169 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3718-12C>T single nucleotide variant Long QT syndrome [RCV002111451] Chr12:2611891 [GRCh38]
Chr12:2721057 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4623+13G>A single nucleotide variant Long QT syndrome [RCV002056287]|not provided [RCV001711912]|not specified [RCV001420850] Chr12:2666795 [GRCh38]
Chr12:2775961 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.1557C>A (p.Ala519=) single nucleotide variant Cardiovascular phenotype [RCV002311414]|Long QT syndrome [RCV000868037]|not provided [RCV001612975] Chr12:2566470 [GRCh38]
Chr12:2675636 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.2398A>C (p.Lys800Gln) single nucleotide variant Cardiovascular phenotype [RCV003278756]|Long QT syndrome [RCV000798349] Chr12:2585434 [GRCh38]
Chr12:2694600 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.13A>C (p.Asn5His) single nucleotide variant Cardiovascular phenotype [RCV002388898]|Long QT syndrome [RCV001958020]|Timothy syndrome [RCV002492029] Chr12:2053575 [GRCh38]
Chr12:2162741 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2794-190G>T single nucleotide variant not provided [RCV001565782] Chr12:2597040 [GRCh38]
Chr12:2706206 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6407G>A (p.Ser2136Asn) single nucleotide variant Long QT syndrome [RCV000553837] Chr12:2691189 [GRCh38]
Chr12:2800355 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3939C>T (p.Pro1313=) single nucleotide variant not specified [RCV001269167] Chr12:2648501 [GRCh38]
Chr12:2757667 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5138A>G (p.Asp1713Gly) single nucleotide variant Cardiovascular phenotype [RCV002350146]|Long QT syndrome [RCV000706517]|not provided [RCV000523216] Chr12:2679490 [GRCh38]
Chr12:2788656 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4837G>A (p.Val1613Ile) single nucleotide variant Cardiovascular phenotype [RCV003362826]|Long QT syndrome [RCV000532715]|not specified [RCV001002112] Chr12:2677102 [GRCh38]
Chr12:2786268 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.618-6T>G single nucleotide variant Long QT syndrome [RCV001367887] Chr12:2457561 [GRCh38]
Chr12:2566727 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3281G>A (p.Ser1094Asn) single nucleotide variant Long QT syndrome [RCV000553663]|Timothy syndrome [RCV002483365] Chr12:2607055 [GRCh38]
Chr12:2716221 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5181G>A (p.Pro1727=) single nucleotide variant Cardiovascular phenotype [RCV002334000]|Long QT syndrome [RCV002066582]|not specified [RCV000606533] Chr12:2679533 [GRCh38]
Chr12:2788699 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*297C>A single nucleotide variant Brugada syndrome [RCV000376485]|Timothy syndrome [RCV000291480] Chr12:2691496 [GRCh38]
Chr12:2800662 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.-233C>T single nucleotide variant Brugada syndrome [RCV000391569]|Timothy syndrome [RCV000302976] Chr12:2053330 [GRCh38]
Chr12:2162496 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*3722C>T single nucleotide variant Brugada syndrome [RCV000275078]|Timothy syndrome [RCV000330100] Chr12:2694921 [GRCh38]
Chr12:2804087 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3457A>G (p.Ile1153Val) single nucleotide variant Cardiovascular phenotype [RCV000617301] Chr12:2608611 [GRCh38]
Chr12:2717777 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn) single nucleotide variant Cardiovascular phenotype [RCV000618088]|Long QT syndrome [RCV001370869]|not specified [RCV001824844] Chr12:2686222 [GRCh38]
Chr12:2795388 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2958C>T (p.Ile986=) single nucleotide variant Cardiovascular phenotype [RCV002436156]|Long QT syndrome [RCV001450166] Chr12:2601958 [GRCh38]
Chr12:2711124 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.*828G>A single nucleotide variant Brugada syndrome [RCV000260637]|Timothy syndrome [RCV000304114] Chr12:2692027 [GRCh38]
Chr12:2801193 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*3299C>G single nucleotide variant Brugada syndrome [RCV000342835]|Timothy syndrome [RCV000304267] Chr12:2694498 [GRCh38]
Chr12:2803664 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*4440C>G single nucleotide variant Brugada syndrome [RCV000290402]|Timothy syndrome [RCV000331343] Chr12:2695639 [GRCh38]
Chr12:2804805 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*605G>C single nucleotide variant Brugada syndrome [RCV000382417]|Timothy syndrome [RCV000346535] Chr12:2691804 [GRCh38]
Chr12:2800970 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*6557C>G single nucleotide variant Brugada syndrome [RCV000292293]|Timothy syndrome [RCV000384373] Chr12:2697756 [GRCh38]
Chr12:2806922 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*5599A>G single nucleotide variant Brugada syndrome [RCV000313065]|Timothy syndrome [RCV000367749] Chr12:2696798 [GRCh38]
Chr12:2805964 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4624-4G>A single nucleotide variant Long QT syndrome [RCV003088259] Chr12:2668929 [GRCh38]
Chr12:2778095 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.*4134A>G single nucleotide variant Brugada syndrome [RCV000260258]|Timothy syndrome [RCV000320096] Chr12:2695333 [GRCh38]
Chr12:2804499 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*1109dup duplication Brugada syndrome [RCV000349321]|Timothy syndrome [RCV000387610] Chr12:2692303..2692304 [GRCh38]
Chr12:2801469..2801470 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.*6591A>G single nucleotide variant Brugada syndrome [RCV000331039]|Timothy syndrome [RCV000387839] Chr12:2697790 [GRCh38]
Chr12:2806956 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn) single nucleotide variant CACNA1C-related condition [RCV003403259]|Cardiovascular phenotype [RCV000621450]|Long QT syndrome [RCV000551631]|not provided [RCV001310630] Chr12:2688721 [GRCh38]
Chr12:2797887 [GRCh37]
Chr12:12p13.33
conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.5525A>C (p.Asn1842Thr) single nucleotide variant Brugada syndrome [RCV000381338]|Timothy syndrome [RCV000296360] Chr12:2682630 [GRCh38]
Chr12:2791796 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*3951G>C single nucleotide variant Brugada syndrome [RCV000343789]|Timothy syndrome [RCV000307687] Chr12:2695150 [GRCh38]
Chr12:2804316 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*4198A>G single nucleotide variant Brugada syndrome [RCV000380603]|Timothy syndrome [RCV000321369] Chr12:2695397 [GRCh38]
Chr12:2804563 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*896A>T single nucleotide variant Brugada syndrome [RCV000383110]|Timothy syndrome [RCV000321500] Chr12:2692095 [GRCh38]
Chr12:2801261 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*977A>G single nucleotide variant Brugada syndrome [RCV000296597]|Timothy syndrome [RCV000388540] Chr12:2692176 [GRCh38]
Chr12:2801342 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*3063C>G single nucleotide variant Brugada syndrome [RCV000332113]|Timothy syndrome [RCV000388947] Chr12:2694262 [GRCh38]
Chr12:2803428 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*4205C>T single nucleotide variant Brugada syndrome [RCV000327134]|Timothy syndrome [RCV000286149] Chr12:2695404 [GRCh38]
Chr12:2804570 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*2473G>A single nucleotide variant Brugada syndrome [RCV000260572]|Timothy syndrome [RCV000322726] Chr12:2693672 [GRCh38]
Chr12:2802838 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*630G>A single nucleotide variant Brugada syndrome [RCV000288092]|Timothy syndrome [RCV000352438] Chr12:2691829 [GRCh38]
Chr12:2800995 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*5811G>A single nucleotide variant Brugada syndrome [RCV000262806]|Timothy syndrome [RCV000352953] Chr12:2697010 [GRCh38]
Chr12:2806176 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*4318G>A single nucleotide variant Brugada syndrome [RCV000395473]|Timothy syndrome [RCV000353170] Chr12:2695517 [GRCh38]
Chr12:2804683 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*1652GAATT[1] microsatellite Brugada syndrome [RCV000332165]|Timothy syndrome [RCV000370444] Chr12:2692850..2692854 [GRCh38]
Chr12:2802016..2802020 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2965A>G (p.Ser989Gly) single nucleotide variant Long QT syndrome [RCV000552394] Chr12:2605085 [GRCh38]
Chr12:2714251 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*5734G>C single nucleotide variant Brugada syndrome [RCV000275806]|Timothy syndrome [RCV000298104] Chr12:2696933 [GRCh38]
Chr12:2806099 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.477+8C>T single nucleotide variant Long QT syndrome [RCV000552738] Chr12:2120438 [GRCh38]
Chr12:2229604 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*4399T>G single nucleotide variant Brugada syndrome [RCV000264281]|Timothy syndrome [RCV000324097] Chr12:2695598 [GRCh38]
Chr12:2804764 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser) single nucleotide variant Cardiovascular phenotype [RCV000619388]|History of neurodevelopmental disorder [RCV000717251]|Long QT syndrome [RCV001344639]|not provided [RCV003391097] Chr12:2691021 [GRCh38]
Chr12:2800187 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*6102G>A single nucleotide variant Brugada syndrome [RCV000298575]|Timothy syndrome [RCV000355729] Chr12:2697301 [GRCh38]
Chr12:2806467 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*1925C>T single nucleotide variant Brugada syndrome [RCV000316022]|Timothy syndrome [RCV000372918] Chr12:2693124 [GRCh38]
Chr12:2802290 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4917T>C (p.Leu1639=) single nucleotide variant Long QT syndrome [RCV003048983] Chr12:2677182 [GRCh38]
Chr12:2786348 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.-214A>G single nucleotide variant Brugada syndrome [RCV000404925]|Timothy syndrome [RCV000357732] Chr12:2053349 [GRCh38]
Chr12:2162515 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.567C>T (p.Ala189=) single nucleotide variant Cardiovascular phenotype [RCV002347412] Chr12:2449065 [GRCh38]
Chr12:2558231 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.*768dup duplication Brugada syndrome [RCV000349757]|Timothy syndrome [RCV000394633] Chr12:2691959..2691960 [GRCh38]
Chr12:2801125..2801126 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*5421del deletion Brugada syndrome [RCV000287349]|Timothy syndrome [RCV000342355] Chr12:2696604 [GRCh38]
Chr12:2805770 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3681C>T (p.Val1227=) single nucleotide variant Brugada syndrome [RCV000390431]|Timothy syndrome [RCV000358157] Chr12:2610663 [GRCh38]
Chr12:2719829 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*4345C>T single nucleotide variant Brugada syndrome [RCV000299349]|Timothy syndrome [RCV000358883] Chr12:2695544 [GRCh38]
Chr12:2804710 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6235_6237del (p.Asp2079del) deletion Brugada syndrome [RCV000403966]|Timothy syndrome [RCV000343119] Chr12:2691016..2691018 [GRCh38]
Chr12:2800182..2800184 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*1473G>T single nucleotide variant Brugada syndrome [RCV000302568]|Timothy syndrome [RCV000359597] Chr12:2692672 [GRCh38]
Chr12:2801838 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*5841G>A single nucleotide variant Brugada syndrome [RCV000318143]|Timothy syndrome [RCV000377476] Chr12:2697040 [GRCh38]
Chr12:2806206 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6371G>A (p.Ser2124Asn) single nucleotide variant Cardiovascular phenotype [RCV002365358]|Long QT syndrome [RCV001369849] Chr12:2691153 [GRCh38]
Chr12:2800319 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*4050G>A single nucleotide variant Brugada syndrome [RCV000367722]|Timothy syndrome [RCV000397328] Chr12:2695249 [GRCh38]
Chr12:2804415 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*4025C>T single nucleotide variant Brugada syndrome [RCV000308764]|Timothy syndrome [RCV000397334] Chr12:2695224 [GRCh38]
Chr12:2804390 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.486G>A (p.Val162=) single nucleotide variant Cardiovascular phenotype [RCV000622001]|Long QT syndrome [RCV001487291] Chr12:2448984 [GRCh38]
Chr12:2558150 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*184G>A single nucleotide variant Brugada syndrome [RCV000367919]|Timothy syndrome [RCV000313303] Chr12:2691383 [GRCh38]
Chr12:2800549 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.*5889G>A single nucleotide variant Brugada syndrome [RCV000288921]|Timothy syndrome [RCV000378678] Chr12:2697088 [GRCh38]
Chr12:2806254 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn) single nucleotide variant Inborn genetic diseases [RCV002532448]|Timothy syndrome [RCV001332567]|not provided [RCV000593906] Chr12:2679787 [GRCh38]
Chr12:2788953 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5201del (p.Gly1734fs) deletion not provided [RCV000598560] Chr12:2679551 [GRCh38]
Chr12:2788717 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.615G>T (p.Val205=) single nucleotide variant Long QT syndrome [RCV000527044] Chr12:2449113 [GRCh38]
Chr12:2558279 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.14A>G (p.Asn5Ser) single nucleotide variant Cardiovascular phenotype [RCV003159995]|Long QT syndrome [RCV003105977]|not provided [RCV000587803] Chr12:2053576 [GRCh38]
Chr12:2162742 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5728C>T (p.Arg1910Ter) single nucleotide variant Timothy syndrome [RCV003139901]|not provided [RCV000598828] Chr12:2686213 [GRCh38]
Chr12:2795379 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=) single nucleotide variant Cardiovascular phenotype [RCV002358646]|Long QT syndrome [RCV001456810]|not provided [RCV000587256] Chr12:2688593 [GRCh38]
Chr12:2797759 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.1990A>G (p.Ile664Val) single nucleotide variant Inborn genetic diseases [RCV000623291] Chr12:2581684 [GRCh38]
Chr12:2690850 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1114-10G>A single nucleotide variant Long QT syndrome [RCV001500921]|not provided [RCV000589363] Chr12:2504832 [GRCh38]
Chr12:2613998 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.2854-4G>A single nucleotide variant Cardiovascular phenotype [RCV002438525]|Long QT syndrome [RCV001084807]|Timothy syndrome [RCV003224341]|not provided [RCV000589613] Chr12:2601850 [GRCh38]
Chr12:2711016 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met) single nucleotide variant CACNA1C-Related Disorder [RCV000844982]|Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV002283488]|not provided [RCV000523935] Chr12:2653847 [GRCh38]
Chr12:2763013 [GRCh37]
Chr12:12p13.33
pathogenic|likely pathogenic|not provided
NM_000719.7(CACNA1C):c.3202del (p.Glu1068fs) deletion Inborn genetic diseases [RCV000623871] Chr12:2606655 [GRCh38]
Chr12:2715821 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1428C>T (p.Thr476=) single nucleotide variant Cardiovascular phenotype [RCV002395506]|Long QT syndrome [RCV000631856]|not provided [RCV000589968] Chr12:2549980 [GRCh38]
Chr12:2659146 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.2760G>A (p.Glu920=) single nucleotide variant Cardiovascular phenotype [RCV000621034]|Long QT syndrome [RCV000819921] Chr12:2595970 [GRCh38]
Chr12:2705136 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.6348T>C (p.Cys2116=) single nucleotide variant Cardiovascular phenotype [RCV000621066] Chr12:2691130 [GRCh38]
Chr12:2800296 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1888A>G (p.Ile630Val) single nucleotide variant Long QT syndrome [RCV000555416] Chr12:2567787 [GRCh38]
Chr12:2676953 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala) single nucleotide variant Cardiovascular phenotype [RCV002368026]|Long QT syndrome [RCV000798962]|not provided [RCV000591624] Chr12:2691120 [GRCh38]
Chr12:2800286 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6403G>A (p.Val2135Ile) single nucleotide variant Long QT syndrome [RCV000806083] Chr12:2691185 [GRCh38]
Chr12:2800351 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala) single nucleotide variant Brugada syndrome [RCV000590951]|Cardiovascular phenotype [RCV002379272]|Long QT syndrome [RCV001865296]|not provided [RCV003144249]|not specified [RCV000414600] Chr12:2115304 [GRCh38]
Chr12:2224470 [GRCh37]
Chr12:12p13.33
association|uncertain significance
NM_000719.7(CACNA1C):c.3061T>G (p.Cys1021Gly) single nucleotide variant not specified [RCV000414641] Chr12:2605691 [GRCh38]
Chr12:2714857 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5477C>T (p.Ala1826Val) single nucleotide variant Long QT syndrome [RCV000537004] Chr12:2682582 [GRCh38]
Chr12:2791748 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1841T>C (p.Leu614Pro) single nucleotide variant Epilepsy [RCV000415023]|Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV002283478] Chr12:2567740 [GRCh38]
Chr12:2676906 [GRCh37]
Chr12:12p13.33
pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.53C>T (p.Ser18Phe) single nucleotide variant not provided [RCV000730415] Chr12:2115227 [GRCh38]
Chr12:2224393 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6197C>T (p.Ala2066Val) single nucleotide variant Cardiovascular phenotype [RCV002367778]|Long QT syndrome [RCV000534957]|not provided [RCV002056917] Chr12:2690979 [GRCh38]
Chr12:2800145 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2700G>A (p.Thr900=) single nucleotide variant Cardiovascular phenotype [RCV002431538]|Long QT syndrome [RCV000539334] Chr12:2595910 [GRCh38]
Chr12:2705076 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5442C>T (p.Asn1814=) single nucleotide variant Long QT syndrome [RCV000535530] Chr12:2679794 [GRCh38]
Chr12:2788960 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) single nucleotide variant Cardiac arrhythmia [RCV002230228]|Cardiovascular phenotype [RCV002402099]|Hypertrophic cardiomyopathy 1 [RCV000584800]|Long QT syndrome [RCV000631664]|Long qt syndrome 8 [RCV001808785]|Timothy syndrome [RCV002288982]|not provided [RCV000412828] Chr12:2566466 [GRCh38]
Chr12:2675632 [GRCh37]
Chr12:12p13.33
pathogenic|likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.3235G>A (p.Gly1079Arg) single nucleotide variant Cardiovascular phenotype [RCV002448628]|Long QT syndrome [RCV000533280]|not provided [RCV001755800] Chr12:2607009 [GRCh38]
Chr12:2716175 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5561T>C (p.Leu1854Pro) single nucleotide variant Long QT syndrome [RCV000541844] Chr12:2682666 [GRCh38]
Chr12:2791832 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3367C>T (p.Arg1123Cys) single nucleotide variant not specified [RCV000413738] Chr12:2608521 [GRCh38]
Chr12:2717687 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5143C>A (p.Arg1715=) single nucleotide variant Cardiovascular phenotype [RCV002341264]|Long QT syndrome [RCV000559093]|not specified [RCV001584244] Chr12:2679495 [GRCh38]
Chr12:2788661 [GRCh37]
Chr12:12p13.33
likely benign
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31
pathogenic|not provided
NM_000719.7(CACNA1C):c.3240G>A (p.Glu1080=) single nucleotide variant Long QT syndrome [RCV000541178] Chr12:2607014 [GRCh38]
Chr12:2716180 [GRCh37]
Chr12:12p13.33
likely benign
GRCh37/hg19 12p13.33(chr12:2152336-2202287)x3 copy number gain See cases [RCV000449110] Chr12:2152336..2202287 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3762C>T (p.Leu1254=) single nucleotide variant Cardiovascular phenotype [RCV002350179]|Long QT syndrome [RCV000531130] Chr12:2611947 [GRCh38]
Chr12:2721113 [GRCh37]
Chr12:12p13.33
likely benign
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6378954)x1 copy number loss See cases [RCV000447106] Chr12:173786..6378954 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33(chr12:2306499-2646928)x3 copy number gain See cases [RCV000446998] Chr12:2306499..2646928 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-5737510)x1 copy number loss See cases [RCV000446628] Chr12:173786..5737510 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_000719.7(CACNA1C):c.4305C>T (p.Ser1435=) single nucleotide variant Cardiovascular phenotype [RCV002328911]|Long QT syndrome [RCV000550369]|not specified [RCV000430903] Chr12:2664897 [GRCh38]
Chr12:2774063 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3978C>T (p.Thr1326=) single nucleotide variant Cardiovascular phenotype [RCV002374659]|Long QT syndrome [RCV000865287]|not specified [RCV000444993] Chr12:2651672 [GRCh38]
Chr12:2760838 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4317C>T (p.Asn1439=) single nucleotide variant Cardiovascular phenotype [RCV000621538]|Long QT syndrome [RCV000462274]|not provided [RCV001810902]|not specified [RCV000427393] Chr12:2664909 [GRCh38]
Chr12:2774075 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4829-8C>T single nucleotide variant Long QT syndrome [RCV001393115]|not specified [RCV000431118] Chr12:2677086 [GRCh38]
Chr12:2786252 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2339+20C>T single nucleotide variant not specified [RCV000441680] Chr12:2584637 [GRCh38]
Chr12:2693803 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6334G>C (p.Glu2112Gln) single nucleotide variant Long QT syndrome [RCV000553479]|Timothy syndrome [RCV002490958] Chr12:2691116 [GRCh38]
Chr12:2800282 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser) single nucleotide variant Cardiovascular phenotype [RCV003303162]|Long QT syndrome [RCV000697996]|Timothy syndrome [RCV000763838] Chr12:2688663 [GRCh38]
Chr12:2797829 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3912+14G>A single nucleotide variant Long QT syndrome [RCV002061349]|not specified [RCV000417828] Chr12:2634394 [GRCh38]
Chr12:2743560 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4232+18T>G single nucleotide variant Long QT syndrome [RCV002525357]|not specified [RCV000417855] Chr12:2655256 [GRCh38]
Chr12:2764422 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4074+19C>T single nucleotide variant not specified [RCV000418013] Chr12:2651787 [GRCh38]
Chr12:2760953 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1332C>T (p.Ala444=) single nucleotide variant Cardiovascular phenotype [RCV000620199]|Long QT syndrome [RCV000631744]|not specified [RCV000424070] Chr12:2512926 [GRCh38]
Chr12:2622092 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4527-7C>T single nucleotide variant Long QT syndrome [RCV002062782]|not specified [RCV000427638] Chr12:2666679 [GRCh38]
Chr12:2775845 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1482-15C>T single nucleotide variant not specified [RCV000431531] Chr12:2556936 [GRCh38]
Chr12:2666102 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5444+609C>T single nucleotide variant not specified [RCV000442042] Chr12:2680405 [GRCh38]
Chr12:2789571 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2530+13C>T single nucleotide variant Long QT syndrome [RCV002058886]|not specified [RCV000418273] Chr12:2585917 [GRCh38]
Chr12:2695083 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr) single nucleotide variant Cardiovascular phenotype [RCV000619866]|Long QT syndrome [RCV000813437]|Long qt syndrome 8 [RCV002272236]|Timothy syndrome [RCV002481342]|Ventricular tachycardia [RCV000852443]|not provided [RCV000424636] Chr12:2566468 [GRCh38]
Chr12:2675634 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1114-416G>A single nucleotide variant Long QT syndrome [RCV001443912]|not specified [RCV000428058] Chr12:2504426 [GRCh38]
Chr12:2613592 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3111C>T (p.Thr1037=) single nucleotide variant not specified [RCV000435234] Chr12:2605741 [GRCh38]
Chr12:2714907 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5444+723C>T single nucleotide variant not provided [RCV001698262] Chr12:2680519 [GRCh38]
Chr12:2789685 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1917C>G (p.Asn639Lys) single nucleotide variant Timothy syndrome [RCV000519272]|not provided [RCV000442339] Chr12:2581611 [GRCh38]
Chr12:2690777 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4956+16C>T single nucleotide variant Long QT syndrome [RCV002061586]|not specified [RCV000435243] Chr12:2677237 [GRCh38]
Chr12:2786403 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5444+610G>A single nucleotide variant not specified [RCV000425051] Chr12:2680406 [GRCh38]
Chr12:2789572 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4232+16C>A single nucleotide variant not specified [RCV000425115] Chr12:2655254 [GRCh38]
Chr12:2764420 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1896-18C>A single nucleotide variant Long QT syndrome [RCV002063340]|not specified [RCV000438974] Chr12:2581572 [GRCh38]
Chr12:2690738 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4050G>A (p.Leu1350=) single nucleotide variant Cardiovascular phenotype [RCV003168622]|Long QT syndrome [RCV001484180]|not specified [RCV000439177] Chr12:2651744 [GRCh38]
Chr12:2760910 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.135C>G (p.Thr45=) single nucleotide variant Cardiovascular phenotype [RCV002379293]|Long QT syndrome [RCV000631752]|not provided [RCV001718813]|not specified [RCV003235206] Chr12:2115309 [GRCh38]
Chr12:2224475 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2961-5C>T single nucleotide variant Cardiovascular phenotype [RCV002436268]|Long QT syndrome [RCV000869631]|not specified [RCV000421735] Chr12:2605076 [GRCh38]
Chr12:2714242 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1800C>T (p.Ile600=) single nucleotide variant Long QT syndrome [RCV001447832]|not specified [RCV000421796] Chr12:2567699 [GRCh38]
Chr12:2676865 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6342G>A (p.Ala2114=) single nucleotide variant Cardiovascular phenotype [RCV000620781]|Long QT syndrome [RCV000631808]|not provided [RCV001723995]|not specified [RCV000425308] Chr12:2691124 [GRCh38]
Chr12:2800290 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5444+618C>T single nucleotide variant not specified [RCV000428806] Chr12:2680414 [GRCh38]
Chr12:2789580 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.-27T>G single nucleotide variant not specified [RCV000432151] Chr12:2053536 [GRCh38]
Chr12:2162702 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2461-3T>C single nucleotide variant Long QT syndrome [RCV001865347]|not specified [RCV000432278] Chr12:2585832 [GRCh38]
Chr12:2694998 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5680+11C>A single nucleotide variant Long QT syndrome [RCV002061351]|not specified [RCV000432389] Chr12:2685853 [GRCh38]
Chr12:2795019 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1674G>A (p.Thr558=) single nucleotide variant Cardiovascular phenotype [RCV002402121]|Long QT syndrome [RCV001443454]|not specified [RCV000435954] Chr12:2567573 [GRCh38]
Chr12:2676739 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3489C>G (p.Gly1163=) single nucleotide variant Cardiovascular phenotype [RCV002451021]|Long QT syndrome [RCV001247420]|not provided [RCV001704401] Chr12:2608643 [GRCh38]
Chr12:2717809 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3648C>T (p.Val1216=) single nucleotide variant Cardiovascular phenotype [RCV003278800]|Long QT syndrome [RCV002065013]|not specified [RCV000419662] Chr12:2610630 [GRCh38]
Chr12:2719796 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3723C>T (p.Tyr1241=) single nucleotide variant Cardiovascular phenotype [RCV000617991]|Long QT syndrome [RCV000631803]|not specified [RCV000436174] Chr12:2611908 [GRCh38]
Chr12:2721074 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5016T>C (p.Asp1672=) single nucleotide variant not specified [RCV000436208] Chr12:2677792 [GRCh38]
Chr12:2786958 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4128G>A (p.Val1376=) single nucleotide variant Cardiovascular phenotype [RCV002328955]|Long QT syndrome [RCV000550018]|not provided [RCV001703834] Chr12:2653888 [GRCh38]
Chr12:2763054 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2854-10C>G single nucleotide variant Long QT syndrome [RCV001452773]|not specified [RCV000439797] Chr12:2601844 [GRCh38]
Chr12:2711010 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6339C>T (p.Asp2113=) single nucleotide variant Cardiovascular phenotype [RCV002365465]|Long QT syndrome [RCV000464469]|Timothy syndrome [RCV002502467]|not specified [RCV000425844] Chr12:2691121 [GRCh38]
Chr12:2800287 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.1669+15C>T single nucleotide variant not specified [RCV000422695] Chr12:2566597 [GRCh38]
Chr12:2675763 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1391-17C>G single nucleotide variant not specified [RCV000426068] Chr12:2549926 [GRCh38]
Chr12:2659092 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1065G>A (p.Thr355=) single nucleotide variant Cardiovascular phenotype [RCV002411287]|Long QT syndrome [RCV000631567]|not specified [RCV000426407] Chr12:2493338 [GRCh38]
Chr12:2602504 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1806G>A (p.Glu602=) single nucleotide variant Cardiovascular phenotype [RCV002411360]|Long QT syndrome [RCV002059701]|not specified [RCV000433348] Chr12:2567705 [GRCh38]
Chr12:2676871 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.512C>T (p.Thr171Met) single nucleotide variant Cardiovascular phenotype [RCV002339007]|Long QT syndrome [RCV000804628]|Timothy syndrome [RCV002506030]|not provided [RCV000436727] Chr12:2449010 [GRCh38]
Chr12:2558176 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3822A>G (p.Lys1274=) single nucleotide variant not specified [RCV000436756] Chr12:2612007 [GRCh38]
Chr12:2721173 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5091+17C>T single nucleotide variant Long QT syndrome [RCV002061350]|not specified [RCV000440425] Chr12:2677884 [GRCh38]
Chr12:2787050 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.75C>T (p.Pro25=) single nucleotide variant Cardiovascular phenotype [RCV003168644]|Long QT syndrome [RCV000871659]|not specified [RCV000444177] Chr12:2115249 [GRCh38]
Chr12:2224415 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4944G>A (p.Ala1648=) single nucleotide variant Cardiovascular phenotype [RCV002339045]|Long QT syndrome [RCV000459997]|not provided [RCV001703867] Chr12:2677209 [GRCh38]
Chr12:2786375 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3946-45C>A single nucleotide variant not specified [RCV000423064] Chr12:2651595 [GRCh38]
Chr12:2760761 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5444+719G>A single nucleotide variant Long QT syndrome [RCV000631867]|Timothy syndrome [RCV002488911]|not specified [RCV000426482] Chr12:2680515 [GRCh38]
Chr12:2789681 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.1508+15C>T single nucleotide variant Long QT syndrome [RCV002061348]|not specified [RCV000426609] Chr12:2556992 [GRCh38]
Chr12:2666158 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.135C>A (p.Thr45=) single nucleotide variant not specified [RCV000430118] Chr12:2115309 [GRCh38]
Chr12:2224475 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3946-46C>T single nucleotide variant not specified [RCV000440559] Chr12:2651594 [GRCh38]
Chr12:2760760 [GRCh37]
Chr12:12p13.33
likely benign
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_000719.7(CACNA1C):c.3087C>A (p.Ile1029=) single nucleotide variant not specified [RCV000444460] Chr12:2605717 [GRCh38]
Chr12:2714883 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4122C>T (p.Tyr1374=) single nucleotide variant Cardiovascular phenotype [RCV000619335]|Long QT syndrome [RCV000474020]|not provided [RCV001720103] Chr12:2653882 [GRCh38]
Chr12:2763048 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5550G>A (p.Glu1850=) single nucleotide variant Cardiovascular phenotype [RCV002348160]|Long QT syndrome [RCV000525413]|not provided [RCV001723988]|not specified [RCV000423415] Chr12:2682655 [GRCh38]
Chr12:2791821 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=) single nucleotide variant Cardiovascular phenotype [RCV000618039]|Long QT syndrome [RCV000476290]|not provided [RCV001718814]|not specified [RCV000433917] Chr12:2679551 [GRCh38]
Chr12:2788717 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4860C>A (p.Ala1620=) single nucleotide variant not specified [RCV000434085] Chr12:2677125 [GRCh38]
Chr12:2786291 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3157-16G>C single nucleotide variant Long QT syndrome [RCV002058965]|not specified [RCV000441025] Chr12:2606595 [GRCh38]
Chr12:2715761 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1620C>T (p.Thr540=) single nucleotide variant Cardiovascular phenotype [RCV002402180]|not provided [RCV001704371] Chr12:2566533 [GRCh38]
Chr12:2675699 [GRCh37]
Chr12:12p13.33
likely benign
GRCh37/hg19 12p13.33(chr12:173786-2865649)x1 copy number loss See cases [RCV000447876] Chr12:173786..2865649 [GRCh37]
Chr12:12p13.33
pathogenic
NC_000012.12:g.(?_2689684)_(2732352_?)del deletion Schizophrenia [RCV000416647] Chr12:2689684..2732352 [GRCh38]
Chr12:2798850..2841518 [GRCh37]
Chr12:2669111..2711779 [NCBI36]
Chr12:12p13.33
likely pathogenic
GRCh37/hg19 12p13.33(chr12:2055265-2655926)x3 copy number gain See cases [RCV000447932] Chr12:2055265..2655926 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33(chr12:2202489-2295112)x4 copy number gain See cases [RCV000448102] Chr12:2202489..2295112 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5022C>T (p.Thr1674=) single nucleotide variant Cardiovascular phenotype [RCV000618105]|Long QT syndrome [RCV000461165]|Timothy syndrome [RCV002481495]|not provided [RCV001093116] Chr12:2677798 [GRCh38]
Chr12:2786964 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2286_2288del (p.Thr763del) deletion Long QT syndrome [RCV000461368] Chr12:2584564..2584566 [GRCh38]
Chr12:2693730..2693732 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4941C>T (p.Asn1647=) single nucleotide variant Long QT syndrome [RCV000461556]|not specified [RCV001192660] Chr12:2677206 [GRCh38]
Chr12:2786372 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.2633G>C (p.Ser878Thr) single nucleotide variant Long QT syndrome [RCV000461810] Chr12:2593315 [GRCh38]
Chr12:2702481 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6064G>C (p.Ala2022Pro) single nucleotide variant Cardiovascular phenotype [RCV003168856]|Long QT syndrome [RCV000461912]|Timothy syndrome [RCV002506132] Chr12:2688726 [GRCh38]
Chr12:2797892 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del) microsatellite Cardiovascular phenotype [RCV003298505]|Long QT syndrome [RCV000462994]|Timothy syndrome [RCV002489084]|not provided [RCV001764446] Chr12:2685779..2685781 [GRCh38]
Chr12:2794945..2794947 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.460G>A (p.Ala154Thr) single nucleotide variant Cardiovascular phenotype [RCV002318583]|Long QT syndrome [RCV001047449]|not provided [RCV000483676] Chr12:2120413 [GRCh38]
Chr12:2229579 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3060G>A (p.Gln1020=) single nucleotide variant Cardiovascular phenotype [RCV002446912]|Long QT syndrome [RCV001505760] Chr12:2605690 [GRCh38]
Chr12:2714856 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.828G>A (p.Leu276=) single nucleotide variant Cardiovascular phenotype [RCV002431381]|Long QT syndrome [RCV000464050]|not provided [RCV001712564] Chr12:2486174 [GRCh38]
Chr12:2595340 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.1965C>T (p.Leu655=) single nucleotide variant Cardiovascular phenotype [RCV003168928]|Long QT syndrome [RCV001442980] Chr12:2581659 [GRCh38]
Chr12:2690825 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6096T>C (p.Ser2032=) single nucleotide variant Long QT syndrome [RCV000464626] Chr12:2688758 [GRCh38]
Chr12:2797924 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.951G>A (p.Ala317=) single nucleotide variant Long QT syndrome [RCV001417836] Chr12:2493224 [GRCh38]
Chr12:2602390 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1952T>A (p.Ile651Asn) single nucleotide variant Long QT syndrome [RCV000464869] Chr12:2581646 [GRCh38]
Chr12:2690812 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6193G>A (p.Asp2065Asn) single nucleotide variant Long QT syndrome [RCV000465173] Chr12:2690975 [GRCh38]
Chr12:2800141 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.234C>T (p.Ser78=) single nucleotide variant Cardiovascular phenotype [RCV003168929]|Long QT syndrome [RCV000465333] Chr12:2115408 [GRCh38]
Chr12:2224574 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1841T>G (p.Leu614Arg) single nucleotide variant not provided [RCV000484225] Chr12:2567740 [GRCh38]
Chr12:2676906 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3200C>T (p.Ala1067Val) single nucleotide variant Cardiovascular phenotype [RCV002323834]|Long QT syndrome [RCV001078815]|not provided [RCV000484291] Chr12:2606654 [GRCh38]
Chr12:2715820 [GRCh37]
Chr12:12p13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.4232+4G>A single nucleotide variant Long QT syndrome [RCV000466773] Chr12:2655242 [GRCh38]
Chr12:2764408 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3246C>T (p.Asp1082=) single nucleotide variant Cardiovascular phenotype [RCV002446911]|Long QT syndrome [RCV000467587]|Timothy syndrome [RCV002496843] Chr12:2607020 [GRCh38]
Chr12:2716186 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5841A>G (p.Ser1947=) single nucleotide variant Cardiovascular phenotype [RCV003298538]|Long QT syndrome [RCV000468165] Chr12:2688503 [GRCh38]
Chr12:2797669 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1348G>C (p.Glu450Gln) single nucleotide variant Long QT syndrome [RCV000468193] Chr12:2512942 [GRCh38]
Chr12:2622108 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2333T>C (p.Leu778Pro) single nucleotide variant Long QT syndrome [RCV000468424] Chr12:2584611 [GRCh38]
Chr12:2693777 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.132C>T (p.Pro44=) single nucleotide variant Long QT syndrome [RCV001458566] Chr12:2115306 [GRCh38]
Chr12:2224472 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5503G>A (p.Glu1835Lys) single nucleotide variant Cardiovascular phenotype [RCV002348336]|Long QT syndrome [RCV000469712] Chr12:2682608 [GRCh38]
Chr12:2791774 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.960G>A (p.Thr320=) single nucleotide variant Cardiovascular phenotype [RCV002374871]|Long QT syndrome [RCV000469758]|not provided [RCV001565391] Chr12:2493233 [GRCh38]
Chr12:2602399 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.372-9C>G single nucleotide variant Long QT syndrome [RCV000469947]|not provided [RCV001643186]|not specified [RCV001532922] Chr12:2120316 [GRCh38]
Chr12:2229482 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5137G>A (p.Asp1713Asn) single nucleotide variant Long QT syndrome [RCV000470129]|not provided [RCV000786112] Chr12:2679489 [GRCh38]
Chr12:2788655 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.950C>T (p.Ala317Val) single nucleotide variant CACNA1C-related condition [RCV003419790]|Cardiovascular phenotype [RCV002374886]|not provided [RCV000480891] Chr12:2493223 [GRCh38]
Chr12:2602389 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln) single nucleotide variant Cardiovascular phenotype [RCV002348254]|Long QT syndrome [RCV000473271]|Primary dilated cardiomyopathy [RCV000852445]|Timothy syndrome [RCV002481357]|not provided [RCV001550202]|not specified [RCV000455282] Chr12:2686202 [GRCh38]
Chr12:2795368 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3828+6C>T single nucleotide variant Long QT syndrome [RCV000471379] Chr12:2612019 [GRCh38]
Chr12:2721185 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1337A>G (p.Asp446Gly) single nucleotide variant Long QT syndrome [RCV000471632] Chr12:2512931 [GRCh38]
Chr12:2622097 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) single nucleotide variant Cardiovascular phenotype [RCV002323750]|Long QT syndrome [RCV000472011]|See cases [RCV002252135]|Sudden unexplained death [RCV000853469]|Timothy syndrome [RCV000714636]|Timothy syndrome [RCV002481470]|not provided [RCV001770357] Chr12:2607105 [GRCh38]
Chr12:2716271 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=) single nucleotide variant Cardiovascular phenotype [RCV002323843]|Long QT syndrome [RCV002525962]|not provided [RCV000485891] Chr12:2607032 [GRCh38]
Chr12:2716198 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.3678C>G (p.Phe1226Leu) single nucleotide variant Long QT syndrome [RCV000473490]|not provided [RCV000786280] Chr12:2610660 [GRCh38]
Chr12:2719826 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1839A>C (p.Pro613=) single nucleotide variant Long QT syndrome [RCV001424681] Chr12:2567738 [GRCh38]
Chr12:2676904 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6270C>A (p.Pro2090=) single nucleotide variant Long QT syndrome [RCV001403663] Chr12:2691052 [GRCh38]
Chr12:2800218 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3558+10dup duplication Long QT syndrome [RCV001424650] Chr12:2608721..2608722 [GRCh38]
Chr12:2717887..2717888 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1508+14dup duplication Long QT syndrome [RCV002526588]|not specified [RCV000481654] Chr12:2556990..2556991 [GRCh38]
Chr12:2666156..2666157 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1749C>T (p.Tyr583=) single nucleotide variant Long QT syndrome [RCV001484162] Chr12:2567648 [GRCh38]
Chr12:2676814 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6275G>C (p.Gly2092Ala) single nucleotide variant Cardiovascular phenotype [RCV002318531]|Long QT syndrome [RCV000475012] Chr12:2691057 [GRCh38]
Chr12:2800223 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2619C>T (p.Pro873=) single nucleotide variant Cardiovascular phenotype [RCV002431380]|Long QT syndrome [RCV000475247] Chr12:2593301 [GRCh38]
Chr12:2702467 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5493G>A (p.Thr1831=) single nucleotide variant Cardiovascular phenotype [RCV002350041]|Long QT syndrome [RCV000475630]|Timothy syndrome [RCV002489134]|not specified [RCV002282166] Chr12:2682598 [GRCh38]
Chr12:2791764 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3946-7G>A single nucleotide variant Long QT syndrome [RCV001431793] Chr12:2651633 [GRCh38]
Chr12:2760799 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.714C>G (p.Ala238=) single nucleotide variant Cardiovascular phenotype [RCV003168927]|Long QT syndrome [RCV000476044] Chr12:2457663 [GRCh38]
Chr12:2566829 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met) single nucleotide variant Cardiovascular phenotype [RCV002374887]|Long QT syndrome [RCV000814196]|Timothy syndrome [RCV002481502]|not provided [RCV000482096] Chr12:2493232 [GRCh38]
Chr12:2602398 [GRCh37]
Chr12:12p13.33
benign|uncertain significance
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser) single nucleotide variant Cardiovascular phenotype [RCV002446927]|Long QT syndrome [RCV000631685]|Timothy syndrome [RCV002481513]|not provided [RCV000486286] Chr12:2585386 [GRCh38]
Chr12:2694552 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4389T>C (p.Cys1463=) single nucleotide variant Cardiovascular phenotype [RCV003168926]|Long QT syndrome [RCV000476115] Chr12:2664981 [GRCh38]
Chr12:2774147 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1524G>A (p.Arg508=) single nucleotide variant Cardiovascular phenotype [RCV000620141]|History of neurodevelopmental disorder [RCV000717590]|Long QT syndrome [RCV000476193] Chr12:2566437 [GRCh38]
Chr12:2675603 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6034C>T (p.Arg2012Trp) single nucleotide variant Long QT syndrome [RCV000477536]|Timothy syndrome [RCV002489083]|not specified [RCV001328352] Chr12:2688696 [GRCh38]
Chr12:2797862 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4533T>C (p.Arg1511=) single nucleotide variant Long QT syndrome [RCV000456210] Chr12:2666692 [GRCh38]
Chr12:2775858 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5957G>A (p.Ser1986Asn) single nucleotide variant Long QT syndrome [RCV000456475] Chr12:2688619 [GRCh38]
Chr12:2797785 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5158C>G (p.Gln1720Glu) single nucleotide variant Long QT syndrome [RCV000456493] Chr12:2679510 [GRCh38]
Chr12:2788676 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.984C>T (p.Asn328=) single nucleotide variant Cardiovascular phenotype [RCV000621958]|History of neurodevelopmental disorder [RCV000717582]|Long QT syndrome [RCV000456767]|not provided [RCV001537012]|not specified [RCV001700390] Chr12:2493257 [GRCh38]
Chr12:2602423 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5411T>C (p.Val1804Ala) single nucleotide variant Cardiovascular phenotype [RCV002349978]|Long QT syndrome [RCV000456924]|Timothy syndrome [RCV002481471] Chr12:2679763 [GRCh38]
Chr12:2788929 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.211G>A (p.Ala71Thr) single nucleotide variant not provided [RCV000482795] Chr12:2115385 [GRCh38]
Chr12:2224551 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3962C>T (p.Ser1321Phe) single nucleotide variant not provided [RCV000487319] Chr12:2651656 [GRCh38]
Chr12:2760822 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3946-10C>G single nucleotide variant Long QT syndrome [RCV000457567] Chr12:2651630 [GRCh38]
Chr12:2760796 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.198C>G (p.Gly66=) single nucleotide variant Long QT syndrome [RCV001480850] Chr12:2115372 [GRCh38]
Chr12:2224538 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3654C>T (p.Ser1218=) single nucleotide variant Cardiovascular phenotype [RCV000618772]|Long QT syndrome [RCV000457863]|not provided [RCV001672799]|not specified [RCV001700193] Chr12:2610636 [GRCh38]
Chr12:2719802 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5277G>A (p.Ser1759=) single nucleotide variant Long QT syndrome [RCV000458172]|Timothy syndrome [RCV002489135]|not provided [RCV001672800] Chr12:2679629 [GRCh38]
Chr12:2788795 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del) deletion Cardiovascular phenotype [RCV000617541]|Long QT syndrome [RCV000458372] Chr12:2584593..2584595 [GRCh38]
Chr12:2693759..2693761 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=) single nucleotide variant Cardiovascular phenotype [RCV002374872]|Long QT syndrome [RCV001483269]|not provided [RCV000729434] Chr12:2493200 [GRCh38]
Chr12:2602366 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.478-6T>G single nucleotide variant Long QT syndrome [RCV001443003] Chr12:2448970 [GRCh38]
Chr12:2558136 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1032C>G (p.Thr344=) single nucleotide variant Long QT syndrome [RCV001431376] Chr12:2493305 [GRCh38]
Chr12:2602471 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6250G>A (p.Gly2084Arg) single nucleotide variant Cardiovascular phenotype [RCV003168855]|Long QT syndrome [RCV000459594] Chr12:2691032 [GRCh38]
Chr12:2800198 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_000719.7(CACNA1C):c.1953C>T (p.Ile651=) single nucleotide variant Cardiovascular phenotype [RCV000621283]|Long QT syndrome [RCV000531606]|not provided [RCV001675914] Chr12:2581647 [GRCh38]
Chr12:2690813 [GRCh37]
Chr12:12p13.33
benign|likely benign
GRCh37/hg19 12p13.33(chr12:2796406-2844076)x3 copy number gain See cases [RCV000510537] Chr12:2796406..2844076 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3717+1_3717+2insA insertion not provided [RCV000498202] Chr12:2610700..2610701 [GRCh38]
Chr12:2719866..2719867 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.1509-12T>G single nucleotide variant Long QT syndrome [RCV002060088]|not provided [RCV000498274] Chr12:2566410 [GRCh38]
Chr12:2675576 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:2245848-3614555)x3 copy number gain See cases [RCV000511901] Chr12:2245848..3614555 [GRCh37]
Chr12:12p13.33-13.32
uncertain significance
NM_000719.7(CACNA1C):c.5147_5186dup (p.His1729fs) duplication not provided [RCV000494367] Chr12:2679497..2679498 [GRCh38]
Chr12:2788663..2788664 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3724G>A (p.Gly1242Ser) single nucleotide variant Long QT syndrome [RCV001227640]|not provided [RCV000494509] Chr12:2611909 [GRCh38]
Chr12:2721075 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr) single nucleotide variant Long QT syndrome [RCV001206926]|not provided [RCV003456406]|not specified [RCV000506792] Chr12:2688681 [GRCh38]
Chr12:2797847 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
GRCh37/hg19 12p13.33(chr12:2564298-2674054)x3 copy number gain See cases [RCV000512035] Chr12:2564298..2674054 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
GRCh37/hg19 12p13.33(chr12:2796406-2854759)x1 copy number loss See cases [RCV000511631] Chr12:2796406..2854759 [GRCh37]
Chr12:12p13.33
likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_000719.7(CACNA1C):c.4254G>A (p.Trp1418Ter) single nucleotide variant Long QT syndrome [RCV000496063] Chr12:2664846 [GRCh38]
Chr12:2774012 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1114-417C>T single nucleotide variant Long QT syndrome [RCV002066810]|not specified [RCV000601963] Chr12:2504425 [GRCh38]
Chr12:2613591 [GRCh37]
Chr12:12p13.33
likely benign
GRCh37/hg19 12p13.33(chr12:2019715-2674054)x3 copy number gain See cases [RCV000510945] Chr12:2019715..2674054 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2
pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
NM_000719.7(CACNA1C):c.456C>T (p.Ser152=) single nucleotide variant Long QT syndrome [RCV000526357] Chr12:2120409 [GRCh38]
Chr12:2229575 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6355G>A (p.Ala2119Thr) single nucleotide variant Cardiovascular phenotype [RCV002367779]|Long QT syndrome [RCV000541940] Chr12:2691137 [GRCh38]
Chr12:2800303 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1491C>T (p.Ile497=) single nucleotide variant Long QT syndrome [RCV000542039] Chr12:2556960 [GRCh38]
Chr12:2666126 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.225A>C (p.Thr75=) single nucleotide variant Cardiovascular phenotype [RCV002448906]|Long QT syndrome [RCV000867240]|not specified [RCV000602968] Chr12:2115399 [GRCh38]
Chr12:2224565 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.713C>G (p.Ala238Gly) single nucleotide variant not provided [RCV003318064] Chr12:2457662 [GRCh38]
Chr12:2566828 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1635C>T (p.His545=) single nucleotide variant Cardiovascular phenotype [RCV000617273]|Long QT syndrome [RCV002531786] Chr12:2566548 [GRCh38]
Chr12:2675714 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.482G>A (p.Arg161Gln) single nucleotide variant Cardiovascular phenotype [RCV000617844]|Long QT syndrome [RCV001320845] Chr12:2448980 [GRCh38]
Chr12:2558146 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5658T>C (p.Gly1886=) single nucleotide variant Cardiovascular phenotype [RCV000617917]|Long QT syndrome [RCV000874355] Chr12:2685820 [GRCh38]
Chr12:2794986 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1435G>A (p.Val479Met) single nucleotide variant Cardiovascular phenotype [RCV000617984]|Long QT syndrome [RCV000688672]|not provided [RCV002261130] Chr12:2549987 [GRCh38]
Chr12:2659153 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.953T>C (p.Leu318Pro) single nucleotide variant Cardiovascular phenotype [RCV002384051]|Long QT syndrome [RCV000554748] Chr12:2493226 [GRCh38]
Chr12:2602392 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5997C>G (p.Thr1999=) single nucleotide variant Cardiovascular phenotype [RCV002358444]|Long QT syndrome [RCV000557038] Chr12:2688659 [GRCh38]
Chr12:2797825 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6057C>T (p.Pro2019=) single nucleotide variant Cardiovascular phenotype [RCV002358445]|Long QT syndrome [RCV001444332] Chr12:2688719 [GRCh38]
Chr12:2797885 [GRCh37]
Chr12:12p13.33
likely benign
NC_000012.11:g.(?_2757621)_(2800385_?)dup duplication Long QT syndrome [RCV000534830] Chr12:2757621..2800385 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.232T>A (p.Ser78Thr) single nucleotide variant Long QT syndrome [RCV000557478] Chr12:2115406 [GRCh38]
Chr12:2224572 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6039C>T (p.Pro2013=) single nucleotide variant Cardiovascular phenotype [RCV003278879]|Long QT syndrome [RCV000558521]|Timothy syndrome [RCV002490957]|not provided [RCV001811029] Chr12:2688701 [GRCh38]
Chr12:2797867 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2229C>T (p.Ile743=) single nucleotide variant not specified [RCV000586844] Chr12:2584507 [GRCh38]
Chr12:2693673 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.209A>G (p.Asn70Ser) single nucleotide variant Long QT syndrome [RCV000536581] Chr12:2115383 [GRCh38]
Chr12:2224549 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) single nucleotide variant Cardiovascular phenotype [RCV002343204]|Long QT syndrome [RCV000631551]|Timothy syndrome [RCV000763835]|not provided [RCV001564124]|not specified [RCV001194037] Chr12:2679450 [GRCh38]
Chr12:2788616 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5486A>G (p.Glu1829Gly) single nucleotide variant Cardiovascular phenotype [RCV002343205]|Long QT syndrome [RCV000631599] Chr12:2682591 [GRCh38]
Chr12:2791757 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5110G>A (p.Gly1704Ser) single nucleotide variant Long QT syndrome [RCV000631633] Chr12:2679462 [GRCh38]
Chr12:2788628 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4999C>T (p.Arg1667Trp) single nucleotide variant Long QT syndrome [RCV000631677] Chr12:2677775 [GRCh38]
Chr12:2786941 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3363G>A (p.Leu1121=) single nucleotide variant Cardiovascular phenotype [RCV002457999]|Long QT syndrome [RCV000631780] Chr12:2608517 [GRCh38]
Chr12:2717683 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2340-4C>G single nucleotide variant Long QT syndrome [RCV000631805] Chr12:2585372 [GRCh38]
Chr12:2694538 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3492C>T (p.Phe1164=) single nucleotide variant Cardiovascular phenotype [RCV002458002]|Long QT syndrome [RCV000631868] Chr12:2608646 [GRCh38]
Chr12:2717812 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5684G>A (p.Arg1895Gln) single nucleotide variant Cardiovascular phenotype [RCV002343208]|Long QT syndrome [RCV000631632]|Timothy syndrome [RCV002507062] Chr12:2686169 [GRCh38]
Chr12:2795335 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5284G>C (p.Gly1762Arg) single nucleotide variant Long QT syndrome [RCV000631641]|not provided [RCV003389819] Chr12:2679636 [GRCh38]
Chr12:2788802 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val) single nucleotide variant Cardiovascular phenotype [RCV002334061]|Long QT syndrome [RCV000631674]|Timothy syndrome [RCV002492955]|Timothy syndrome [RCV003224354] Chr12:2679502 [GRCh38]
Chr12:2788668 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.162G>A (p.Ala54=) single nucleotide variant Cardiovascular phenotype [RCV002404745]|Long QT syndrome [RCV000631705] Chr12:2115336 [GRCh38]
Chr12:2224502 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.340C>A (p.Arg114=) single nucleotide variant Cardiovascular phenotype [RCV003162801]|Long QT syndrome [RCV000631825] Chr12:2115514 [GRCh38]
Chr12:2224680 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.705G>A (p.Ala235=) single nucleotide variant Cardiovascular phenotype [RCV002360512]|Long QT syndrome [RCV000631827] Chr12:2457654 [GRCh38]
Chr12:2566820 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4380C>T (p.Tyr1460=) single nucleotide variant Cardiovascular phenotype [RCV002331113]|Long QT syndrome [RCV001436734] Chr12:2664972 [GRCh38]
Chr12:2774138 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity
NM_000719.7(CACNA1C):c.3398G>A (p.Gly1133Asp) single nucleotide variant Long QT syndrome [RCV000559629] Chr12:2608552 [GRCh38]
Chr12:2717718 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6006C>T (p.Gly2002=) single nucleotide variant Cardiovascular phenotype [RCV000622215]|Long QT syndrome [RCV000537617] Chr12:2688668 [GRCh38]
Chr12:2797834 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4757G>A (p.Arg1586Gln) single nucleotide variant Long QT syndrome [RCV000631575] Chr12:2674571 [GRCh38]
Chr12:2783737 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2674C>G (p.Gln892Glu) single nucleotide variant Long QT syndrome [RCV000631586] Chr12:2595884 [GRCh38]
Chr12:2705050 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1729A>G (p.Ser577Gly) single nucleotide variant Long QT syndrome [RCV000631597] Chr12:2567628 [GRCh38]
Chr12:2676794 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5255C>T (p.Thr1752Ile) single nucleotide variant Long QT syndrome [RCV000631605]|Timothy syndrome [RCV002289920] Chr12:2679607 [GRCh38]
Chr12:2788773 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2316G>T (p.Glu772Asp) single nucleotide variant Long QT syndrome [RCV000631606] Chr12:2584594 [GRCh38]
Chr12:2693760 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly) single nucleotide variant Cardiovascular phenotype [RCV002343206]|Long QT syndrome [RCV000631620]|Timothy syndrome [RCV002507061] Chr12:2679727 [GRCh38]
Chr12:2788893 [GRCh37]
Chr12:12p13.33
benign|uncertain significance
NM_000719.7(CACNA1C):c.1951A>G (p.Ile651Val) single nucleotide variant Long QT syndrome [RCV000631663] Chr12:2581645 [GRCh38]
Chr12:2690811 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3717+4A>G single nucleotide variant Cardiovascular phenotype [RCV002343209]|Long QT syndrome [RCV000631692]|Timothy syndrome [RCV002492956] Chr12:2610703 [GRCh38]
Chr12:2719869 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6254G>A (p.Gly2085Asp) single nucleotide variant Long QT syndrome [RCV000631704] Chr12:2691036 [GRCh38]
Chr12:2800202 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5109C>T (p.Phe1703=) single nucleotide variant Cardiovascular phenotype [RCV002343211]|Long QT syndrome [RCV000631735] Chr12:2679461 [GRCh38]
Chr12:2788627 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.570C>T (p.Tyr190=) single nucleotide variant Cardiovascular phenotype [RCV002343213]|Long QT syndrome [RCV000631781] Chr12:2449068 [GRCh38]
Chr12:2558234 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2547G>A (p.Glu849=) single nucleotide variant Cardiovascular phenotype [RCV002431863]|Long QT syndrome [RCV000631793] Chr12:2593229 [GRCh38]
Chr12:2702395 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1983C>T (p.Phe661=) single nucleotide variant Long QT syndrome [RCV000631865] Chr12:2581677 [GRCh38]
Chr12:2690843 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1130G>C (p.Gly377Ala) single nucleotide variant Long QT syndrome [RCV000631553] Chr12:2504858 [GRCh38]
Chr12:2614024 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.609G>A (p.Val203=) single nucleotide variant Cardiovascular phenotype [RCV002358763]|Long QT syndrome [RCV000631562]|not provided [RCV001811123] Chr12:2449107 [GRCh38]
Chr12:2558273 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3420G>A (p.Val1140=) single nucleotide variant Long QT syndrome [RCV000631561] Chr12:2608574 [GRCh38]
Chr12:2717740 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1410G>T (p.Glu470Asp) single nucleotide variant Long QT syndrome [RCV000631628] Chr12:2549962 [GRCh38]
Chr12:2659128 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4334C>T (p.Thr1445Ile) single nucleotide variant Long QT syndrome [RCV000631629] Chr12:2664926 [GRCh38]
Chr12:2774092 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6026G>A (p.Arg2009Gln) single nucleotide variant Cardiovascular phenotype [RCV002358766]|Long QT syndrome [RCV000631722] Chr12:2688688 [GRCh38]
Chr12:2797854 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4068C>T (p.Ser1356=) single nucleotide variant Cardiovascular phenotype [RCV002325213]|Long QT syndrome [RCV001085721]|not provided [RCV000631739]|not specified [RCV001701423] Chr12:2651762 [GRCh38]
Chr12:2760928 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.1479G>A (p.Leu493=) single nucleotide variant Cardiovascular phenotype [RCV002388008]|Long QT syndrome [RCV000631748] Chr12:2550031 [GRCh38]
Chr12:2659197 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5346C>T (p.Ala1782=) single nucleotide variant Cardiovascular phenotype [RCV002343212]|Long QT syndrome [RCV000631774]|not provided [RCV001675945] Chr12:2679698 [GRCh38]
Chr12:2788864 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4704G>A (p.Thr1568=) single nucleotide variant Cardiovascular phenotype [RCV002334064]|Long QT syndrome [RCV000631795] Chr12:2669013 [GRCh38]
Chr12:2778179 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1467C>T (p.Cys489=) single nucleotide variant Cardiovascular phenotype [RCV002388011]|Long QT syndrome [RCV000631824]|not specified [RCV001805764] Chr12:2550019 [GRCh38]
Chr12:2659185 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3498C>T (p.Ile1166=) single nucleotide variant Cardiovascular phenotype [RCV002456387]|Long QT syndrome [RCV001469184]|not specified [RCV000603066] Chr12:2608652 [GRCh38]
Chr12:2717818 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5283C>T (p.Thr1761=) single nucleotide variant Cardiovascular phenotype [RCV000617886]|Long QT syndrome [RCV000867815] Chr12:2679635 [GRCh38]
Chr12:2788801 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4411T>C (p.Phe1471Leu) single nucleotide variant Cardiovascular phenotype [RCV000617896] Chr12:2665593 [GRCh38]
Chr12:2774759 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6022G>A (p.Ala2008Thr) single nucleotide variant Cardiovascular phenotype [RCV000618992]|Long QT syndrome [RCV001211676] Chr12:2688684 [GRCh38]
Chr12:2797850 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3216C>A (p.Asn1072Lys) single nucleotide variant Long QT syndrome [RCV000631569] Chr12:2606990 [GRCh38]
Chr12:2716156 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5164T>G (p.Phe1722Val) single nucleotide variant Inborn genetic diseases [RCV002528856]|Long QT syndrome [RCV000631613]|not provided [RCV001766344] Chr12:2679516 [GRCh38]
Chr12:2788682 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1895+7G>A single nucleotide variant Long QT syndrome [RCV000631836] Chr12:2567801 [GRCh38]
Chr12:2676967 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu) single nucleotide variant CACNA1C-related condition [RCV000626000] Chr12:2653847 [GRCh38]
Chr12:2763013 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.1704G>A (p.Thr568=) single nucleotide variant Cardiovascular phenotype [RCV000620888]|Long QT syndrome [RCV001855261] Chr12:2567603 [GRCh38]
Chr12:2676769 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3075C>T (p.Ala1025=) single nucleotide variant Cardiovascular phenotype [RCV002319542]|Long QT syndrome [RCV000631869]|not provided [RCV001675946] Chr12:2605705 [GRCh38]
Chr12:2714871 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5250C>T (p.Asp1750=) single nucleotide variant Cardiovascular phenotype [RCV002341265]|Long QT syndrome [RCV000559457] Chr12:2679602 [GRCh38]
Chr12:2788768 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3157-7C>T single nucleotide variant Long QT syndrome [RCV000540817]|not provided [RCV001653888]|not specified [RCV002307532] Chr12:2606604 [GRCh38]
Chr12:2715770 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.6323C>T (p.Ala2108Val) single nucleotide variant Long QT syndrome [RCV000541000] Chr12:2691105 [GRCh38]
Chr12:2800271 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met) single nucleotide variant Cardiovascular phenotype [RCV000617554]|Long QT syndrome [RCV000631714]|Timothy syndrome [RCV002483715]|not provided [RCV001591382] Chr12:2567652 [GRCh38]
Chr12:2676818 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.371+16C>T single nucleotide variant Long QT syndrome [RCV002066809]|not specified [RCV000609916] Chr12:2115561 [GRCh38]
Chr12:2224727 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1356G>A (p.Glu452=) single nucleotide variant Long QT syndrome [RCV001479844]|not specified [RCV000616004] Chr12:2512950 [GRCh38]
Chr12:2622116 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3988C>T (p.Leu1330=) single nucleotide variant Cardiovascular phenotype [RCV002377010]|Long QT syndrome [RCV001402287] Chr12:2651682 [GRCh38]
Chr12:2760848 [GRCh37]
Chr12:12p13.33
likely benign
NM_001167623.2(CACNA1C):c.1122C>T (p.Asp374=) single nucleotide variant Long QT syndrome [RCV002066811]|not specified [RCV000607211] Chr12:2504444 [GRCh38]
Chr12:2613610 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5148C>T (p.Ser1716=) single nucleotide variant Cardiovascular phenotype [RCV000618475]|Long QT syndrome [RCV000631849]|not provided [RCV003392454] Chr12:2679500 [GRCh38]
Chr12:2788666 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp) single nucleotide variant Inborn genetic diseases [RCV000622326]|Timothy syndrome [RCV003152722] Chr12:2566522 [GRCh38]
Chr12:2675688 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.720C>T (p.Arg240=) single nucleotide variant Cardiovascular phenotype [RCV000618741]|Long QT syndrome [RCV001482627] Chr12:2457669 [GRCh38]
Chr12:2566835 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.757+14G>A single nucleotide variant not specified [RCV000601980] Chr12:2457720 [GRCh38]
Chr12:2566886 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4623+20A>G single nucleotide variant Long QT syndrome [RCV002532801]|not specified [RCV000616377] Chr12:2666802 [GRCh38]
Chr12:2775968 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1333G>A (p.Glu445Lys) single nucleotide variant Cardiovascular phenotype [RCV000619390]|Long QT syndrome [RCV001860369] Chr12:2512927 [GRCh38]
Chr12:2622093 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.672C>T (p.Leu224=) single nucleotide variant Cardiovascular phenotype [RCV002377304]|Long QT syndrome [RCV001496192]|not specified [RCV000607746] Chr12:2457621 [GRCh38]
Chr12:2566787 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1716C>T (p.Leu572=) single nucleotide variant Cardiovascular phenotype [RCV002404699]|Long QT syndrome [RCV001497079]|not specified [RCV000613249] Chr12:2567615 [GRCh38]
Chr12:2676781 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4957-12C>T single nucleotide variant not specified [RCV000616485] Chr12:2677721 [GRCh38]
Chr12:2786887 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2460+6G>A single nucleotide variant Long QT syndrome [RCV000533865]|Long qt syndrome 8 [RCV002470905]|not provided [RCV000994772]|not specified [RCV001700403] Chr12:2585502 [GRCh38]
Chr12:2694668 [GRCh37]
Chr12:12p13.33
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.2634C>T (p.Ser878=) single nucleotide variant Long QT syndrome [RCV001209344]|not specified [RCV000602406] Chr12:2593316 [GRCh38]
Chr12:2702482 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2331G>A (p.Lys777=) single nucleotide variant not specified [RCV000616628] Chr12:2584609 [GRCh38]
Chr12:2693775 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5226G>A (p.Ser1742=) single nucleotide variant Cardiovascular phenotype [RCV003162741]|Long QT syndrome [RCV000866583]|not specified [RCV000613534] Chr12:2679578 [GRCh38]
Chr12:2788744 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2794-5del deletion Long QT syndrome [RCV002529753]|not specified [RCV000613651] Chr12:2597222 [GRCh38]
Chr12:2706388 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3718-14C>G single nucleotide variant Long QT syndrome [RCV002529755]|not specified [RCV000616772] Chr12:2611889 [GRCh38]
Chr12:2721055 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5445-17dup duplication Long QT syndrome [RCV002529584]|not specified [RCV000610880] Chr12:2682532..2682533 [GRCh38]
Chr12:2791698..2791699 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4448C>A (p.Thr1483Lys) single nucleotide variant Inborn genetic diseases [RCV003272663] Chr12:2665630 [GRCh38]
Chr12:2774796 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1851C>T (p.Ser617=) single nucleotide variant Long QT syndrome [RCV001493947]|not specified [RCV000614082] Chr12:2567750 [GRCh38]
Chr12:2676916 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1114-292C>G single nucleotide variant not specified [RCV000608780] Chr12:2504550 [GRCh38]
Chr12:2613716 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3789C>A (p.Thr1263=) single nucleotide variant Long QT syndrome [RCV001362528]|not specified [RCV000608809] Chr12:2611974 [GRCh38]
Chr12:2721140 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3934T>C (p.Ser1312Pro) single nucleotide variant Long QT syndrome [RCV000536011] Chr12:2648496 [GRCh38]
Chr12:2757662 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.-28C>T single nucleotide variant not specified [RCV000614831] Chr12:2053535 [GRCh38]
Chr12:2162701 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2664-11C>G single nucleotide variant Long QT syndrome [RCV002065231]|not specified [RCV000599662] Chr12:2595863 [GRCh38]
Chr12:2705029 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2278G>A (p.Glu760Lys) single nucleotide variant Long QT syndrome [RCV000631600] Chr12:2584556 [GRCh38]
Chr12:2693722 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3643G>A (p.Val1215Met) single nucleotide variant Cardiovascular phenotype [RCV002343207]|Long QT syndrome [RCV000631624] Chr12:2610625 [GRCh38]
Chr12:2719791 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4625G>T (p.Arg1542Leu) single nucleotide variant Long QT syndrome [RCV000631630] Chr12:2668934 [GRCh38]
Chr12:2778100 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2430G>A (p.Thr810=) single nucleotide variant Long QT syndrome [RCV000631672]|not provided [RCV001534630] Chr12:2585466 [GRCh38]
Chr12:2694632 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1669+10G>A single nucleotide variant Long QT syndrome [RCV000631747]|not provided [RCV001712726]|not specified [RCV001002543] Chr12:2566592 [GRCh38]
Chr12:2675758 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2339+7C>G single nucleotide variant Long QT syndrome [RCV000631749] Chr12:2584624 [GRCh38]
Chr12:2693790 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3459C>T (p.Ile1153=) single nucleotide variant Long QT syndrome [RCV001432693] Chr12:2608613 [GRCh38]
Chr12:2717779 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4141-4C>T single nucleotide variant Cardiovascular phenotype [RCV002331112]|Long QT syndrome [RCV000631763] Chr12:2655143 [GRCh38]
Chr12:2764309 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1734G>C (p.Leu578=) single nucleotide variant Long QT syndrome [RCV000631769] Chr12:2567633 [GRCh38]
Chr12:2676799 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3081G>A (p.Arg1027=) single nucleotide variant Cardiovascular phenotype [RCV002319541]|Long QT syndrome [RCV000631770] Chr12:2605711 [GRCh38]
Chr12:2714877 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6276C>A (p.Gly2092=) single nucleotide variant Long QT syndrome [RCV000631796] Chr12:2691058 [GRCh38]
Chr12:2800224 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1815G>A (p.Leu605=) single nucleotide variant not specified [RCV000604242] Chr12:2567714 [GRCh38]
Chr12:2676880 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5905G>A (p.Val1969Ile) single nucleotide variant Cardiovascular phenotype [RCV000618158]|Long QT syndrome [RCV002531806] Chr12:2688567 [GRCh38]
Chr12:2797733 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3201G>C (p.Ala1067=) single nucleotide variant Long QT syndrome [RCV000631843] Chr12:2606655 [GRCh38]
Chr12:2715821 [GRCh37]
Chr12:12p13.33
likely benign
GRCh37/hg19 12p13.33(chr12:2796406-2851026)x1 copy number loss See cases [RCV000512611] Chr12:2796406..2851026 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4141-20C>A single nucleotide variant not specified [RCV000604254] Chr12:2655127 [GRCh38]
Chr12:2764293 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.898A>G (p.Asn300Asp) single nucleotide variant Cardiovascular phenotype [RCV000619814]|Long QT syndrome [RCV000546874]|Timothy syndrome [RCV002490959] Chr12:2486244 [GRCh38]
Chr12:2595410 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2565C>T (p.Val855=) single nucleotide variant Long QT syndrome [RCV000631864]|not provided [RCV000829097] Chr12:2593247 [GRCh38]
Chr12:2702413 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5827C>T (p.His1943Tyr) single nucleotide variant Cardiovascular phenotype [RCV000621806]|Long QT syndrome [RCV001347110] Chr12:2688489 [GRCh38]
Chr12:2797655 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1508+20C>T single nucleotide variant Long QT syndrome [RCV002063270]|not specified [RCV000600408] Chr12:2556997 [GRCh38]
Chr12:2666163 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5441A>G (p.Asn1814Ser) single nucleotide variant Cardiovascular phenotype [RCV000622139]|Long QT syndrome [RCV001855273] Chr12:2679793 [GRCh38]
Chr12:2788959 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=) single nucleotide variant Cardiovascular phenotype [RCV002420292]|Long QT syndrome [RCV001424367]|not provided [RCV000513485] Chr12:2486138 [GRCh38]
Chr12:2595304 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.1481+16G>A single nucleotide variant Long QT syndrome [RCV002528798]|not specified [RCV000606442] Chr12:2550049 [GRCh38]
Chr12:2659215 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3357G>C (p.Glu1119Asp) single nucleotide variant not provided [RCV000658315] Chr12:2608511 [GRCh38]
Chr12:2717677 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2975A>G (p.Asn992Ser) single nucleotide variant not provided [RCV000658245] Chr12:2605095 [GRCh38]
Chr12:2714261 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2935G>A (p.Val979Met) single nucleotide variant Long QT syndrome [RCV001855364]|not provided [RCV000658096] Chr12:2601935 [GRCh38]
Chr12:2711101 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1097C>T (p.Thr366Met) single nucleotide variant Cardiovascular phenotype [RCV003303089]|Long QT syndrome [RCV000697997]|not provided [RCV000658225] Chr12:2493370 [GRCh38]
Chr12:2602536 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1649A>G (p.Asn550Ser) single nucleotide variant Cardiovascular phenotype [RCV002397432]|Long QT syndrome [RCV000697941] Chr12:2566562 [GRCh38]
Chr12:2675728 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu) single nucleotide variant Cardiovascular phenotype [RCV002343527]|Long QT syndrome [RCV000700725]|Timothy syndrome [RCV001291697] Chr12:2679577 [GRCh38]
Chr12:2788743 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5657G>C (p.Gly1886Ala) single nucleotide variant Long QT syndrome [RCV000686704] Chr12:2685819 [GRCh38]
Chr12:2794985 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33(chr12:173786-2793493)x1 copy number loss not provided [RCV000683468] Chr12:173786..2793493 [GRCh37]
Chr12:12p13.33
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys) single nucleotide variant Congenital long QT syndrome [RCV002272326]|Long QT syndrome [RCV001302393]|Timothy syndrome [RCV000678930] Chr12:2581611 [GRCh38]
Chr12:2690777 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33(chr12:2387098-2740808)x3 copy number gain not provided [RCV000683424] Chr12:2387098..2740808 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)x1 copy number loss not provided [RCV000683471] Chr12:173786..4105910 [GRCh37]
Chr12:12p13.33-13.32
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1 copy number loss not provided [RCV000683474] Chr12:173786..5952112 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1 copy number loss not provided [RCV000683476] Chr12:173786..6201932 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33(chr12:2235940-2382140)x1 copy number loss not provided [RCV000683398] Chr12:2235940..2382140 [GRCh37]
Chr12:12p13.33
likely benign
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1 copy number loss not provided [RCV000683475] Chr12:173786..6039841 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_000719.7(CACNA1C):c.3510G>A (p.Gln1170=) single nucleotide variant Cardiovascular phenotype [RCV002458289]|Long QT syndrome [RCV000702597] Chr12:2608664 [GRCh38]
Chr12:2717830 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile) single nucleotide variant Cardiovascular phenotype [RCV002360798]|Long QT syndrome [RCV000701466]|Timothy syndrome [RCV002477615] Chr12:2115239 [GRCh38]
Chr12:2224405 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1722G>T (p.Lys574Asn) single nucleotide variant Long QT syndrome [RCV000706690] Chr12:2567621 [GRCh38]
Chr12:2676787 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6087C>T (p.Phe2029=) single nucleotide variant Cardiovascular phenotype [RCV002314599]|Long QT syndrome [RCV002060916] Chr12:2688749 [GRCh38]
Chr12:2797915 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6260_6280del (p.Pro2087_Ala2093del) deletion Long QT syndrome [RCV000695086] Chr12:2691035..2691055 [GRCh38]
Chr12:2800201..2800221 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4563C>T (p.Leu1521=) single nucleotide variant Cardiovascular phenotype [RCV002314408] Chr12:2666722 [GRCh38]
Chr12:2775888 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2550G>C (p.Glu850Asp) single nucleotide variant Long QT syndrome [RCV000691118] Chr12:2593232 [GRCh38]
Chr12:2702398 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6368C>G (p.Pro2123Arg) single nucleotide variant Cardiovascular phenotype [RCV002360826]|Long QT syndrome [RCV000705548] Chr12:2691150 [GRCh38]
Chr12:2800316 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2635G>A (p.Ala879Thr) single nucleotide variant Long QT syndrome [RCV000705670] Chr12:2593317 [GRCh38]
Chr12:2702483 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4336C>A (p.Pro1446Thr) single nucleotide variant Amyloidosis [RCV000852664]|Long QT syndrome [RCV000689099] Chr12:2664928 [GRCh38]
Chr12:2774094 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2824A>G (p.Thr942Ala) single nucleotide variant Cardiovascular phenotype [RCV002440468]|Long QT syndrome [RCV000694281]|Timothy syndrome [RCV002493190] Chr12:2597260 [GRCh38]
Chr12:2706426 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5084T>C (p.Ile1695Thr) single nucleotide variant Long QT syndrome [RCV000689272] Chr12:2677860 [GRCh38]
Chr12:2787026 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2438G>A (p.Gly813Glu) single nucleotide variant Long QT syndrome [RCV000686327] Chr12:2585474 [GRCh38]
Chr12:2694640 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6140G>A (p.Gly2047Glu) single nucleotide variant Long QT syndrome [RCV000692490] Chr12:2690922 [GRCh38]
Chr12:2800088 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2401GAG[1] (p.Glu802del) microsatellite Cardiovascular phenotype [RCV002442527]|Long QT syndrome [RCV000704045]|Timothy syndrome [RCV002493236] Chr12:2585435..2585437 [GRCh38]
Chr12:2694601..2694603 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5339G>T (p.Arg1780Leu) single nucleotide variant Long QT syndrome [RCV000697581] Chr12:2679691 [GRCh38]
Chr12:2788857 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6235G>A (p.Asp2079Asn) single nucleotide variant Long QT syndrome [RCV000704339] Chr12:2691017 [GRCh38]
Chr12:2800183 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1510C>T (p.Arg504Cys) single nucleotide variant Cardiovascular phenotype [RCV002388336]|Long QT syndrome [RCV000704347] Chr12:2566423 [GRCh38]
Chr12:2675589 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4565G>A (p.Arg1522Gln) single nucleotide variant Long QT syndrome [RCV000695421] Chr12:2666724 [GRCh38]
Chr12:2775890 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3161A>G (p.Lys1054Arg) single nucleotide variant Cardiovascular phenotype [RCV003362903]|Long QT syndrome [RCV000695838]|Timothy syndrome [RCV002485688] Chr12:2606615 [GRCh38]
Chr12:2715781 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3210-3C>T single nucleotide variant Long QT syndrome [RCV000688582] Chr12:2606981 [GRCh38]
Chr12:2716147 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met) single nucleotide variant Cardiovascular phenotype [RCV002388338]|Long QT syndrome [RCV000705038]|not provided [RCV001811454] Chr12:2550029 [GRCh38]
Chr12:2659195 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.6308C>T (p.Ala2103Val) single nucleotide variant Long QT syndrome [RCV000705058] Chr12:2691090 [GRCh38]
Chr12:2800256 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2633G>T (p.Ser878Ile) single nucleotide variant Long QT syndrome [RCV000705143] Chr12:2593315 [GRCh38]
Chr12:2702481 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2764C>G (p.Pro922Ala) single nucleotide variant Long QT syndrome [RCV000695849] Chr12:2595974 [GRCh38]
Chr12:2705140 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5648C>T (p.Pro1883Leu) single nucleotide variant Long QT syndrome [RCV000705200] Chr12:2685810 [GRCh38]
Chr12:2794976 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2793T>G (p.His931Gln) single nucleotide variant Long QT syndrome [RCV000697762] Chr12:2596003 [GRCh38]
Chr12:2705169 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6344G>A (p.Gly2115Asp) single nucleotide variant Cardiovascular phenotype [RCV002360789]|Long QT syndrome [RCV000699444] Chr12:2691126 [GRCh38]
Chr12:2800292 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.447A>G (p.Glu149=) single nucleotide variant CACNA1C-related condition [RCV003411592]|Cardiovascular phenotype [RCV003303108]|Long QT syndrome [RCV000685654] Chr12:2120400 [GRCh38]
Chr12:2229566 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4369A>T (p.Ile1457Phe) single nucleotide variant Long QT syndrome [RCV000705865] Chr12:2664961 [GRCh38]
Chr12:2774127 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1126G>A (p.Val376Ile) single nucleotide variant Cardiovascular phenotype [RCV002442478]|Long QT syndrome [RCV000696793]|not specified [RCV001256729] Chr12:2504854 [GRCh38]
Chr12:2614020 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser) single nucleotide variant Cardiovascular phenotype [RCV002424628]|Long QT syndrome [RCV000691780]|Timothy syndrome [RCV002265861] Chr12:2585860 [GRCh38]
Chr12:2695026 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3824C>T (p.Pro1275Leu) single nucleotide variant Long QT syndrome [RCV000694419] Chr12:2612009 [GRCh38]
Chr12:2721175 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4625G>A (p.Arg1542His) single nucleotide variant Long QT syndrome [RCV000697181] Chr12:2668934 [GRCh38]
Chr12:2778100 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4165G>T (p.Asp1389Tyr) single nucleotide variant Long QT syndrome [RCV000706353] Chr12:2655171 [GRCh38]
Chr12:2764337 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3559-259C>T single nucleotide variant not provided [RCV001547139] Chr12:2610282 [GRCh38]
Chr12:2719448 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.618-69A>C single nucleotide variant not provided [RCV001575221] Chr12:2457498 [GRCh38]
Chr12:2566664 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6068G>A (p.Gly2023Glu) single nucleotide variant Cardiovascular phenotype [RCV002312753]|Long QT syndrome [RCV001862019] Chr12:2688730 [GRCh38]
Chr12:2797896 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4819C>G (p.Pro1607Ala) single nucleotide variant Cardiovascular phenotype [RCV002313540] Chr12:2674633 [GRCh38]
Chr12:2783799 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1686C>T (p.Ala562=) single nucleotide variant Cardiovascular phenotype [RCV002313651]|Long QT syndrome [RCV001446968]|not provided [RCV000840984] Chr12:2567585 [GRCh38]
Chr12:2676751 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1852G>A (p.Val618Met) single nucleotide variant Cardiovascular phenotype [RCV002313513]|Long QT syndrome [RCV001862037] Chr12:2567751 [GRCh38]
Chr12:2676917 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6060_6065del (p.Gln2021_Ala2022del) deletion Cardiovascular phenotype [RCV002313637] Chr12:2688722..2688727 [GRCh38]
Chr12:2797888..2797893 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3372C>T (p.Ser1124=) single nucleotide variant Cardiovascular phenotype [RCV002317997]|Long QT syndrome [RCV002534581] Chr12:2608526 [GRCh38]
Chr12:2717692 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2412T>A (p.Ile804=) single nucleotide variant Cardiovascular phenotype [RCV002318052] Chr12:2585448 [GRCh38]
Chr12:2694614 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1782C>T (p.Phe594=) single nucleotide variant Cardiovascular phenotype [RCV002313545]|Long QT syndrome [RCV000872975] Chr12:2567681 [GRCh38]
Chr12:2676847 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3789C>T (p.Thr1263=) single nucleotide variant Cardiovascular phenotype [RCV002315461]|Long QT syndrome [RCV001395051] Chr12:2611974 [GRCh38]
Chr12:2721140 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3234C>A (p.Asp1078Glu) single nucleotide variant Cardiovascular phenotype [RCV002317477]|Long QT syndrome [RCV001346445] Chr12:2607008 [GRCh38]
Chr12:2716174 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1414G>A (p.Glu472Lys) single nucleotide variant Cardiovascular phenotype [RCV002317459]|Long QT syndrome [RCV001862071] Chr12:2549966 [GRCh38]
Chr12:2659132 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5308G>A (p.Ala1770Thr) single nucleotide variant Cardiovascular phenotype [RCV002317471]|Long QT syndrome [RCV001366388] Chr12:2679660 [GRCh38]
Chr12:2788826 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.917-49C>G single nucleotide variant not provided [RCV001539772] Chr12:2493141 [GRCh38]
Chr12:2602307 [GRCh37]
Chr12:12p13.33
benign
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33(chr12:2198588-2255327)x1 copy number loss not provided [RCV000737737] Chr12:2198588..2255327 [GRCh37]
Chr12:12p13.33
benign
GRCh37/hg19 12p13.33(chr12:2198827-2216588)x1 copy number loss not provided [RCV000737738] Chr12:2198827..2216588 [GRCh37]
Chr12:12p13.33
benign
GRCh37/hg19 12p13.33(chr12:2245636-2269588)x1 copy number loss not provided [RCV000737739] Chr12:2245636..2269588 [GRCh37]
Chr12:12p13.33
benign
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NC_000012.12:g.(?_2687956)_(2741851_?)del deletion Schizophrenia [RCV000754139] Chr12:2687956..2741851 [GRCh38]
Chr12:12p13.33
likely pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
NM_000719.7(CACNA1C):c.478-202del deletion not provided [RCV001645777] Chr12:2448764 [GRCh38]
Chr12:2557930 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4726+10C>T single nucleotide variant not provided [RCV000895881] Chr12:2669045 [GRCh38]
Chr12:2778211 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2451C>T (p.Pro817=) single nucleotide variant Cardiovascular phenotype [RCV002444954]|Long QT syndrome [RCV000874777]|not provided [RCV003392660] Chr12:2585487 [GRCh38]
Chr12:2694653 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4233-129T>G single nucleotide variant Long QT syndrome [RCV000860300]|not provided [RCV001712794] Chr12:2664696 [GRCh38]
Chr12:2773862 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2553A>G (p.Pro851=) single nucleotide variant Long QT syndrome [RCV001495800] Chr12:2593235 [GRCh38]
Chr12:2702401 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6302G>A (p.Arg2101Lys) single nucleotide variant not provided [RCV001702021] Chr12:2691084 [GRCh38]
Chr12:2800250 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4140+77G>T single nucleotide variant Long QT syndrome [RCV000860571]|not provided [RCV001585798] Chr12:2653977 [GRCh38]
Chr12:2763143 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5223G>A (p.Glu1741=) single nucleotide variant Long QT syndrome [RCV002072979]|not provided [RCV001647791] Chr12:2679575 [GRCh38]
Chr12:2788741 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1482-264C>T single nucleotide variant Long QT syndrome [RCV000860692] Chr12:2556687 [GRCh38]
Chr12:2665853 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3157-175C>T single nucleotide variant Long QT syndrome [RCV000860693]|not provided [RCV001585799] Chr12:2606436 [GRCh38]
Chr12:2715602 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5904C>T (p.Pro1968=) single nucleotide variant Cardiovascular phenotype [RCV002359216]|not provided [RCV001667820] Chr12:2688566 [GRCh38]
Chr12:2797732 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5162C>G (p.Thr1721Ser) single nucleotide variant Long QT syndrome [RCV001866183]|not provided [RCV001585246] Chr12:2679514 [GRCh38]
Chr12:2788680 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.917-57G>A single nucleotide variant not provided [RCV001546671] Chr12:2493133 [GRCh38]
Chr12:2602299 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4232+302C>T single nucleotide variant Long QT syndrome [RCV000860962] Chr12:2655540 [GRCh38]
Chr12:2764706 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3945+37G>A single nucleotide variant not provided [RCV001574908] Chr12:2648544 [GRCh38]
Chr12:2757710 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.*33dup duplication not provided [RCV001610855] Chr12:2691229..2691230 [GRCh38]
Chr12:2800395..2800396 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5573+202CA[6] microsatellite not provided [RCV001610985] Chr12:2682880..2682881 [GRCh38]
Chr12:2792046..2792047 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4727-61G>A single nucleotide variant not provided [RCV000994773] Chr12:2674480 [GRCh38]
Chr12:2783646 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6271A>G (p.Asn2091Asp) single nucleotide variant not provided [RCV000994778] Chr12:2691053 [GRCh38]
Chr12:2800219 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5382C>A (p.His1794Gln) single nucleotide variant Long QT syndrome [RCV001046194] Chr12:2679734 [GRCh38]
Chr12:2788900 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro) single nucleotide variant Timothy syndrome [RCV000790446]|not provided [RCV001093114] Chr12:2584547 [GRCh38]
Chr12:2693713 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4074+33del deletion Timothy syndrome [RCV001554540]|not provided [RCV001673210] Chr12:2651800 [GRCh38]
Chr12:2760966 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5444+47C>A single nucleotide variant not provided [RCV001551223] Chr12:2679843 [GRCh38]
Chr12:2789009 [GRCh37]
Chr12:12p13.33
likely benign
NM_152640.5(DCP1B):c.294T>G (p.Pro98=) single nucleotide variant not provided [RCV003312216] Chr12:1993289 [GRCh38]
Chr12:2102455 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1630G>A (p.Glu544Lys) single nucleotide variant not provided [RCV003312217] Chr12:2566543 [GRCh38]
Chr12:2675709 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2575C>T (p.Pro859Ser) single nucleotide variant not provided [RCV001570438] Chr12:2593257 [GRCh38]
Chr12:2702423 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.916+65C>T single nucleotide variant not provided [RCV001582048] Chr12:2486327 [GRCh38]
Chr12:2595493 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.372-171C>T single nucleotide variant not provided [RCV001570805] Chr12:2120154 [GRCh38]
Chr12:2229320 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.477+227TG[18] microsatellite not provided [RCV001586281] Chr12:2120657..2120660 [GRCh38]
Chr12:2229823..2229826 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4024C>T (p.Arg1342Cys) single nucleotide variant Long QT syndrome [RCV001067987] Chr12:2651718 [GRCh38]
Chr12:2760884 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5444+1087C>T single nucleotide variant Long QT syndrome [RCV000868629] Chr12:2680883 [GRCh38]
Chr12:2790049 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3558+314A>G single nucleotide variant Long QT syndrome [RCV000867430] Chr12:2609026 [GRCh38]
Chr12:2718192 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.549C>T (p.Leu183=) single nucleotide variant not provided [RCV000868270] Chr12:2449047 [GRCh38]
Chr12:2558213 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3660C>T (p.Tyr1220=) single nucleotide variant Long QT syndrome [RCV001406011] Chr12:2610642 [GRCh38]
Chr12:2719808 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3829-85C>A single nucleotide variant Long QT syndrome [RCV000900680] Chr12:2634212 [GRCh38]
Chr12:2743378 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1557C>T (p.Ala519=) single nucleotide variant Cardiovascular phenotype [RCV002399899]|Long QT syndrome [RCV000866696]|not provided [RCV001619850] Chr12:2566470 [GRCh38]
Chr12:2675636 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5928G>C (p.Gly1976=) single nucleotide variant Cardiovascular phenotype [RCV002352520]|Long QT syndrome [RCV001475006] Chr12:2688590 [GRCh38]
Chr12:2797756 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5733G>A (p.Gly1911=) single nucleotide variant Cardiovascular phenotype [RCV002345976]|Long QT syndrome [RCV001401395] Chr12:2686218 [GRCh38]
Chr12:2795384 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1669+7G>A single nucleotide variant Long QT syndrome [RCV001401829] Chr12:2566589 [GRCh38]
Chr12:2675755 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3903C>T (p.Thr1301=) single nucleotide variant not provided [RCV000936516] Chr12:2634371 [GRCh38]
Chr12:2743537 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1098G>A (p.Thr366=) single nucleotide variant Long QT syndrome [RCV001444409] Chr12:2493371 [GRCh38]
Chr12:2602537 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.35A>T (p.Glu12Val) single nucleotide variant Cardiovascular phenotype [RCV002453951]|Long QT syndrome [RCV000864687] Chr12:2053597 [GRCh38]
Chr12:2162763 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3522G>A (p.Glu1174=) single nucleotide variant Cardiovascular phenotype [RCV002453994]|Long QT syndrome [RCV000869398] Chr12:2608676 [GRCh38]
Chr12:2717842 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6324C>T (p.Ala2108=) single nucleotide variant Cardiovascular phenotype [RCV002363303]|Long QT syndrome [RCV002064826] Chr12:2691106 [GRCh38]
Chr12:2800272 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1251C>T (p.Ala417=) single nucleotide variant Cardiovascular phenotype [RCV002409229]|Long QT syndrome [RCV000936724]|not provided [RCV001615081] Chr12:2512845 [GRCh38]
Chr12:2622011 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5592C>T (p.Asp1864=) single nucleotide variant Cardiovascular phenotype [RCV002346100]|Long QT syndrome [RCV000928686] Chr12:2685754 [GRCh38]
Chr12:2794920 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.282C>T (p.Ser94=) single nucleotide variant Long QT syndrome [RCV000870434] Chr12:2115456 [GRCh38]
Chr12:2224622 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.241C>A (p.Arg81=) single nucleotide variant Cardiovascular phenotype [RCV002453982]|Long QT syndrome [RCV000867853] Chr12:2115415 [GRCh38]
Chr12:2224581 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2022A>G (p.Gly674=) single nucleotide variant Cardiovascular phenotype [RCV002416029]|Long QT syndrome [RCV001436229] Chr12:2581716 [GRCh38]
Chr12:2690882 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2103+8C>T single nucleotide variant Long QT syndrome [RCV000868674] Chr12:2581805 [GRCh38]
Chr12:2690971 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4956+8C>T single nucleotide variant Long QT syndrome [RCV000865741] Chr12:2677229 [GRCh38]
Chr12:2786395 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3829-428C>T single nucleotide variant Long QT syndrome [RCV000983342] Chr12:2633869 [GRCh38]
Chr12:2743035 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.687C>T (p.Ala229=) single nucleotide variant Cardiovascular phenotype [RCV002372433]|Long QT syndrome [RCV000867094] Chr12:2457636 [GRCh38]
Chr12:2566802 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2663+9C>T single nucleotide variant Long QT syndrome [RCV001448821] Chr12:2593354 [GRCh38]
Chr12:2702520 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2937G>T (p.Val979=) single nucleotide variant Long QT syndrome [RCV001456882] Chr12:2601937 [GRCh38]
Chr12:2711103 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3687C>A (p.Ile1229=) single nucleotide variant Long QT syndrome [RCV001404645] Chr12:2610669 [GRCh38]
Chr12:2719835 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4074+7G>A single nucleotide variant Long QT syndrome [RCV000865363] Chr12:2651775 [GRCh38]
Chr12:2760941 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2339+7C>T single nucleotide variant Long QT syndrome [RCV001431978] Chr12:2584624 [GRCh38]
Chr12:2693790 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1481+897C>G single nucleotide variant Long QT syndrome [RCV000942909] Chr12:2550930 [GRCh38]
Chr12:2660096 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1481+777C>A single nucleotide variant Long QT syndrome [RCV000943151] Chr12:2550810 [GRCh38]
Chr12:2659976 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3356+561C>A single nucleotide variant Long QT syndrome [RCV000943229] Chr12:2607691 [GRCh38]
Chr12:2716857 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4141-5C>T single nucleotide variant Long QT syndrome [RCV000982326] Chr12:2655142 [GRCh38]
Chr12:2764308 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3663C>T (p.Phe1221=) single nucleotide variant Cardiovascular phenotype [RCV002453989]|Long QT syndrome [RCV001441647] Chr12:2610645 [GRCh38]
Chr12:2719811 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5610G>A (p.Thr1870=) single nucleotide variant Cardiovascular phenotype [RCV002345958]|Long QT syndrome [RCV001501272] Chr12:2685772 [GRCh38]
Chr12:2794938 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.798C>T (p.Val266=) single nucleotide variant Cardiovascular phenotype [RCV002409043]|Long QT syndrome [RCV000866260] Chr12:2486144 [GRCh38]
Chr12:2595310 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.168C>T (p.Ile56=) single nucleotide variant Cardiovascular phenotype [RCV002399910]|Long QT syndrome [RCV001480816]|not provided [RCV003392649] Chr12:2115342 [GRCh38]
Chr12:2224508 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4956+10T>G single nucleotide variant Long QT syndrome [RCV001414444] Chr12:2677231 [GRCh38]
Chr12:2786397 [GRCh37]
Chr12:12p13.33
likely benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
NM_000719.7(CACNA1C):c.2559G>A (p.Met853Ile) single nucleotide variant Long QT syndrome [RCV001051450] Chr12:2593241 [GRCh38]
Chr12:2702407 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5386C>A (p.Pro1796Thr) single nucleotide variant Long QT syndrome [RCV001043165] Chr12:2679738 [GRCh38]
Chr12:2788904 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33(chr12:2162777-2800066)x1 copy number loss not provided [RCV000995024] Chr12:2162777..2800066 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1218-8C>G single nucleotide variant Long QT syndrome [RCV001043271] Chr12:2512804 [GRCh38]
Chr12:2621970 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2557A>G (p.Met853Val) single nucleotide variant Long QT syndrome [RCV001061801] Chr12:2593239 [GRCh38]
Chr12:2702405 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.200G>A (p.Ser67Asn) single nucleotide variant Brugada syndrome 3 [RCV001332565]|Long QT syndrome [RCV001061899] Chr12:2115374 [GRCh38]
Chr12:2224540 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.541T>C (p.Tyr181His) single nucleotide variant Long QT syndrome [RCV001053185] Chr12:2449039 [GRCh38]
Chr12:2558205 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4349G>A (p.Ser1450Asn) single nucleotide variant Cardiovascular phenotype [RCV002327321]|Long QT syndrome [RCV001056207] Chr12:2664941 [GRCh38]
Chr12:2774107 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5900A>G (p.Gln1967Arg) single nucleotide variant Long QT syndrome [RCV001051169]|Timothy syndrome [RCV002497401] Chr12:2688562 [GRCh38]
Chr12:2797728 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3568G>T (p.Val1190Leu) single nucleotide variant Cerebral palsy [RCV001796345]|Long QT syndrome [RCV001037547] Chr12:2610550 [GRCh38]
Chr12:2719716 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.2314G>A (p.Glu772Lys) single nucleotide variant Long QT syndrome [RCV001042833] Chr12:2584592 [GRCh38]
Chr12:2693758 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4432A>C (p.Asn1478His) single nucleotide variant Long QT syndrome [RCV001070226] Chr12:2665614 [GRCh38]
Chr12:2774780 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2804del (p.Tyr935fs) deletion Long QT syndrome [RCV001050292] Chr12:2597240 [GRCh38]
Chr12:2706406 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5188A>G (p.Ile1730Val) single nucleotide variant Long QT syndrome [RCV001037326] Chr12:2679540 [GRCh38]
Chr12:2788706 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.138G>A (p.Pro46=) single nucleotide variant Cardiovascular phenotype [RCV002393268]|Long QT syndrome [RCV001052765] Chr12:2115312 [GRCh38]
Chr12:2224478 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NC_000012.12:g.(?_1909906)_(2556977_?)dup duplication not provided [RCV001033618] Chr12:2019072..2666143 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5347G>T (p.Gly1783Cys) single nucleotide variant Cardiovascular phenotype [RCV002346245]|Long QT syndrome [RCV001036498] Chr12:2679699 [GRCh38]
Chr12:2788865 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_000719.7(CACNA1C):c.5145G>A (p.Arg1715=) single nucleotide variant not specified [RCV000780075] Chr12:2679497 [GRCh38]
Chr12:2788663 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5883C>T (p.Ser1961=) single nucleotide variant Cardiovascular phenotype [RCV002352295]|Long QT syndrome [RCV001471315]|not specified [RCV000780076] Chr12:2688545 [GRCh38]
Chr12:2797711 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4782G>A (p.Lys1594=) single nucleotide variant Cardiovascular phenotype [RCV002334453]|Long QT syndrome [RCV001423164]|not specified [RCV000780077] Chr12:2674596 [GRCh38]
Chr12:2783762 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.990G>A (p.Thr330=) single nucleotide variant Cardiovascular phenotype [RCV002386361]|Long QT syndrome [RCV001491316]|not provided [RCV003326494]|not specified [RCV000780078] Chr12:2493263 [GRCh38]
Chr12:2602429 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5741T>G (p.Ile1914Ser) single nucleotide variant Long QT syndrome [RCV000791607]|Timothy syndrome [RCV002487630] Chr12:2686226 [GRCh38]
Chr12:2795392 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1412C>A (p.Thr471Asn) single nucleotide variant Timothy syndrome [RCV000790445] Chr12:2549964 [GRCh38]
Chr12:2659130 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.910A>G (p.Ile304Val) single nucleotide variant Long QT syndrome [RCV000808928] Chr12:2486256 [GRCh38]
Chr12:2595422 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6354C>T (p.Arg2118=) single nucleotide variant Long QT syndrome [RCV000868515] Chr12:2691136 [GRCh38]
Chr12:2800302 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5997C>T (p.Thr1999=) single nucleotide variant Long QT syndrome [RCV001478654] Chr12:2688659 [GRCh38]
Chr12:2797825 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.50-162C>G single nucleotide variant Long QT syndrome [RCV000860298] Chr12:2115062 [GRCh38]
Chr12:2224228 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4957-222G>C single nucleotide variant Long QT syndrome [RCV000860303]|not provided [RCV001644842] Chr12:2677511 [GRCh38]
Chr12:2786677 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3157-328G>T single nucleotide variant Long QT syndrome [RCV000860350] Chr12:2606283 [GRCh38]
Chr12:2715449 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1114-577G>A single nucleotide variant Long QT syndrome [RCV000860823]|not provided [RCV001692294] Chr12:2504265 [GRCh38]
Chr12:2613431 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1390+104C>T single nucleotide variant Long QT syndrome [RCV000860413] Chr12:2513088 [GRCh38]
Chr12:2622254 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4141-321A>G single nucleotide variant Long QT syndrome [RCV000860434] Chr12:2654826 [GRCh38]
Chr12:2763992 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5574-174T>C single nucleotide variant Long QT syndrome [RCV000860490]|not provided [RCV001683669] Chr12:2685562 [GRCh38]
Chr12:2794728 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1113+186C>T single nucleotide variant Long QT syndrome [RCV000860499]|not provided [RCV001637995] Chr12:2493572 [GRCh38]
Chr12:2602738 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2530+247T>C single nucleotide variant Long QT syndrome [RCV000860503]|not provided [RCV001712797] Chr12:2586151 [GRCh38]
Chr12:2695317 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4957-207C>T single nucleotide variant Long QT syndrome [RCV000860506]|not provided [RCV001664486] Chr12:2677526 [GRCh38]
Chr12:2786692 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2340-72G>A single nucleotide variant Long QT syndrome [RCV000860536]|not provided [RCV001672961] Chr12:2585304 [GRCh38]
Chr12:2694470 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2531-187C>T single nucleotide variant Long QT syndrome [RCV000860584] Chr12:2593026 [GRCh38]
Chr12:2702192 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4624-47A>G single nucleotide variant Long QT syndrome [RCV000861444] Chr12:2668886 [GRCh38]
Chr12:2778052 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3072C>T (p.Val1024=) single nucleotide variant Cardiovascular phenotype [RCV002319596]|Long QT syndrome [RCV001459429] Chr12:2605702 [GRCh38]
Chr12:2714868 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.49+7C>G single nucleotide variant Long QT syndrome [RCV001466605] Chr12:2053618 [GRCh38]
Chr12:2162784 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.372-23A>G single nucleotide variant Long QT syndrome [RCV000860586] Chr12:2120302 [GRCh38]
Chr12:2229468 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1113+7A>G single nucleotide variant Long QT syndrome [RCV001515449] Chr12:2493393 [GRCh38]
Chr12:2602559 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3357-517T>C single nucleotide variant Long QT syndrome [RCV000942910] Chr12:2607994 [GRCh38]
Chr12:2717160 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3930A>G (p.Gln1310=) single nucleotide variant Long QT syndrome [RCV001410425] Chr12:2648492 [GRCh38]
Chr12:2757658 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1481+423G>A single nucleotide variant Long QT syndrome [RCV000942917] Chr12:2550456 [GRCh38]
Chr12:2659622 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1481+727C>T single nucleotide variant Long QT syndrome [RCV000942918] Chr12:2550760 [GRCh38]
Chr12:2659926 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4068C>A (p.Ser1356=) single nucleotide variant Cardiovascular phenotype [RCV002320192]|Long QT syndrome [RCV001462726] Chr12:2651762 [GRCh38]
Chr12:2760928 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5598T>C (p.Asn1866=) single nucleotide variant Cardiovascular phenotype [RCV002346030]|Long QT syndrome [RCV001415688] Chr12:2685760 [GRCh38]
Chr12:2794926 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2853+189A>G single nucleotide variant Long QT syndrome [RCV000868609]|not provided [RCV001593083] Chr12:2597478 [GRCh38]
Chr12:2706644 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.477+116590T>C single nucleotide variant Long QT syndrome [RCV000940510] Chr12:2237020 [GRCh38]
Chr12:2346186 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5382C>T (p.His1794=) single nucleotide variant Cardiovascular phenotype [RCV002345944]|Long QT syndrome [RCV000861862]|not provided [RCV003389833] Chr12:2679734 [GRCh38]
Chr12:2788900 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2530+10C>T single nucleotide variant Long QT syndrome [RCV001397595] Chr12:2585914 [GRCh38]
Chr12:2695080 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3829-152A>C single nucleotide variant Long QT syndrome [RCV000981184] Chr12:2634145 [GRCh38]
Chr12:2743311 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.916+63C>T single nucleotide variant Long QT syndrome [RCV000860497]|not provided [RCV001585797] Chr12:2486325 [GRCh38]
Chr12:2595491 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.371+230A>C single nucleotide variant Long QT syndrome [RCV000860630]|not provided [RCV001547243] Chr12:2115775 [GRCh38]
Chr12:2224941 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3913-300T>C single nucleotide variant Long QT syndrome [RCV000860631]|not provided [RCV001593063] Chr12:2648175 [GRCh38]
Chr12:2757341 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.1895+85G>A single nucleotide variant Long QT syndrome [RCV000860733] Chr12:2567879 [GRCh38]
Chr12:2677045 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.372-305T>C single nucleotide variant Long QT syndrome [RCV000861987] Chr12:2120020 [GRCh38]
Chr12:2229186 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.669T>C (p.Ala223=) single nucleotide variant Long QT syndrome [RCV001477356] Chr12:2457618 [GRCh38]
Chr12:2566784 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3913-6516G>A single nucleotide variant Long QT syndrome [RCV000943206] Chr12:2641959 [GRCh38]
Chr12:2751125 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4899G>A (p.Lys1633=) single nucleotide variant Cardiovascular phenotype [RCV002336772]|Long QT syndrome [RCV000864780] Chr12:2677164 [GRCh38]
Chr12:2786330 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1391-2222T>G single nucleotide variant Long QT syndrome [RCV000942908] Chr12:2547721 [GRCh38]
Chr12:2656887 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2664-170T>A single nucleotide variant Long QT syndrome [RCV000863335] Chr12:2595704 [GRCh38]
Chr12:2704870 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.6267C>T (p.Ser2089=) single nucleotide variant Long QT syndrome [RCV002539186] Chr12:2691049 [GRCh38]
Chr12:2800215 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.477+116658G>A single nucleotide variant Long QT syndrome [RCV000918964] Chr12:2237088 [GRCh38]
Chr12:2346254 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.859T>C (p.Leu287=) single nucleotide variant Cardiovascular phenotype [RCV002444953]|Long QT syndrome [RCV000874713] Chr12:2486205 [GRCh38]
Chr12:2595371 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3225G>A (p.Thr1075=) single nucleotide variant Long QT syndrome [RCV001482264] Chr12:2606999 [GRCh38]
Chr12:2716165 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3913-7020C>T single nucleotide variant Long QT syndrome [RCV000977345] Chr12:2641455 [GRCh38]
Chr12:2750621 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2793+7A>G single nucleotide variant Long QT syndrome [RCV000874810] Chr12:2596010 [GRCh38]
Chr12:2705176 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6411C>T (p.Ser2137=) single nucleotide variant not provided [RCV000896929] Chr12:2691193 [GRCh38]
Chr12:2800359 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1785C>T (p.Val595=) single nucleotide variant Cardiovascular phenotype [RCV003307610]|Long QT syndrome [RCV000866568] Chr12:2567684 [GRCh38]
Chr12:2676850 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5862_5873del (p.Pro1956_Pro1959del) deletion Long QT syndrome [RCV000872194] Chr12:2688519..2688530 [GRCh38]
Chr12:2797685..2797696 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5784+8A>C single nucleotide variant Long QT syndrome [RCV000916673] Chr12:2686277 [GRCh38]
Chr12:2795443 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3157-51T>C single nucleotide variant Long QT syndrome [RCV000861257]|not provided [RCV001585804] Chr12:2606560 [GRCh38]
Chr12:2715726 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3209+112G>A single nucleotide variant Long QT syndrome [RCV000861258]|not provided [RCV001571978] Chr12:2606775 [GRCh38]
Chr12:2715941 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3828+177G>A single nucleotide variant Long QT syndrome [RCV000861259]|not provided [RCV001593066] Chr12:2612190 [GRCh38]
Chr12:2721356 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.2854-333C>T single nucleotide variant Long QT syndrome [RCV000862559]|not provided [RCV001551886] Chr12:2601521 [GRCh38]
Chr12:2710687 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3157-90A>G single nucleotide variant Long QT syndrome [RCV000860351]|Timothy syndrome [RCV001554535]|not provided [RCV001672958] Chr12:2606521 [GRCh38]
Chr12:2715687 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4399-146C>A single nucleotide variant Long QT syndrome [RCV000860435]|not provided [RCV001672959] Chr12:2665435 [GRCh38]
Chr12:2774601 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5319C>T (p.Thr1773=) single nucleotide variant Cardiovascular phenotype [RCV002346024]|Long QT syndrome [RCV000875192] Chr12:2679671 [GRCh38]
Chr12:2788837 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5538G>A (p.Glu1846=) single nucleotide variant Long QT syndrome [RCV001432820] Chr12:2682643 [GRCh38]
Chr12:2791809 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.372-64T>C single nucleotide variant Long QT syndrome [RCV000981347] Chr12:2120261 [GRCh38]
Chr12:2229427 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4727-124A>C single nucleotide variant Long QT syndrome [RCV000863775] Chr12:2674417 [GRCh38]
Chr12:2783583 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1113+100C>G single nucleotide variant Long QT syndrome [RCV000860498]|not provided [RCV001712796] Chr12:2493486 [GRCh38]
Chr12:2602652 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1481+191G>A single nucleotide variant Long QT syndrome [RCV000860535]|not provided [RCV001644843] Chr12:2550224 [GRCh38]
Chr12:2659390 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.50-147C>T single nucleotide variant Long QT syndrome [RCV000860629]|not provided [RCV001593062] Chr12:2115077 [GRCh38]
Chr12:2224243 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.114G>A (p.Leu38=) single nucleotide variant Long QT syndrome [RCV001477802] Chr12:2115288 [GRCh38]
Chr12:2224454 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4141-312G>A single nucleotide variant Long QT syndrome [RCV000860171] Chr12:2654835 [GRCh38]
Chr12:2764001 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3209+129T>C single nucleotide variant Long QT syndrome [RCV001080479]|not provided [RCV000831012] Chr12:2606792 [GRCh38]
Chr12:2715958 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3210-132C>T single nucleotide variant Long QT syndrome [RCV001081758]|not provided [RCV000831013] Chr12:2606852 [GRCh38]
Chr12:2716018 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5574-111T>G single nucleotide variant Long QT syndrome [RCV001081262]|not provided [RCV000831135] Chr12:2685625 [GRCh38]
Chr12:2794791 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.6119T>G (p.Val2040Gly) single nucleotide variant Long QT syndrome [RCV000799212] Chr12:2690901 [GRCh38]
Chr12:2800067 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4727-190G>A single nucleotide variant Long QT syndrome [RCV001080602]|not provided [RCV000833892] Chr12:2674351 [GRCh38]
Chr12:2783517 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5784+199G>A single nucleotide variant Long QT syndrome [RCV001080603]|not provided [RCV000833893] Chr12:2686468 [GRCh38]
Chr12:2795634 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3559-17C>T single nucleotide variant not provided [RCV000827444] Chr12:2610524 [GRCh38]
Chr12:2719690 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1482-177A>G single nucleotide variant Long QT syndrome [RCV001084538]|not provided [RCV000831189] Chr12:2556774 [GRCh38]
Chr12:2665940 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4074+153G>A single nucleotide variant Long QT syndrome [RCV001083363]|not provided [RCV000831190] Chr12:2651921 [GRCh38]
Chr12:2761087 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.6118-79C>T single nucleotide variant Long QT syndrome [RCV001084057]|not provided [RCV000831191] Chr12:2690821 [GRCh38]
Chr12:2799987 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.617+194G>A single nucleotide variant Long QT syndrome [RCV001084159]|not provided [RCV000831195] Chr12:2449309 [GRCh38]
Chr12:2558475 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2793+187A>G single nucleotide variant Long QT syndrome [RCV001083446]|Timothy syndrome [RCV001554534]|not provided [RCV000831196] Chr12:2596190 [GRCh38]
Chr12:2705356 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4527-151C>T single nucleotide variant Long QT syndrome [RCV001083036]|not provided [RCV000834009] Chr12:2666535 [GRCh38]
Chr12:2775701 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.484G>A (p.Val162Met) single nucleotide variant Cardiovascular phenotype [RCV003380714]|Long QT syndrome [RCV000793620]|Timothy syndrome [RCV002507365] Chr12:2448982 [GRCh38]
Chr12:2558148 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala) single nucleotide variant Long QT syndrome [RCV000817497]|Timothy syndrome [RCV001089532]|Timothy syndrome [RCV002478907]|not provided [RCV000994776] Chr12:2682654 [GRCh38]
Chr12:2791820 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1217+154G>C single nucleotide variant not provided [RCV000835805] Chr12:2505099 [GRCh38]
Chr12:2614265 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1113+78C>T single nucleotide variant not provided [RCV000835827] Chr12:2493464 [GRCh38]
Chr12:2602630 [GRCh37]
Chr12:12p13.33
likely benign
NC_000012.11:g.(?_2797603)_(2800375_?)dup duplication Long QT syndrome [RCV000818560] Chr12:2688437..2691209 [GRCh38]
Chr12:2797603..2800375 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.122A>T (p.Glu41Val) single nucleotide variant Long QT syndrome [RCV000814262] Chr12:2115296 [GRCh38]
Chr12:2224462 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1024G>A (p.Gly342Ser) single nucleotide variant Long QT syndrome [RCV000819509] Chr12:2493297 [GRCh38]
Chr12:2602463 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1396A>G (p.Met466Val) single nucleotide variant Long QT syndrome [RCV000823580] Chr12:2549948 [GRCh38]
Chr12:2659114 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.150G>A (p.Leu50=) single nucleotide variant Cardiovascular phenotype [RCV002390964]|Long QT syndrome [RCV001440398] Chr12:2115324 [GRCh38]
Chr12:2224490 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3448ATC[3] (p.Ile1153del) microsatellite Long QT syndrome [RCV000823818] Chr12:2608601..2608603 [GRCh38]
Chr12:2717767..2717769 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5423C>T (p.Ala1808Val) single nucleotide variant Cardiovascular phenotype [RCV002345797]|Long QT syndrome [RCV000803302]|not provided [RCV001532202] Chr12:2679775 [GRCh38]
Chr12:2788941 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4726+313dup duplication not provided [RCV000828707] Chr12:2669338..2669339 [GRCh38]
Chr12:2778504..2778505 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3946-298G>A single nucleotide variant Long QT syndrome [RCV001083450]|not provided [RCV000832534] Chr12:2651342 [GRCh38]
Chr12:2760508 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1218-66G>A single nucleotide variant Long QT syndrome [RCV001079849]|not provided [RCV000832594] Chr12:2512746 [GRCh38]
Chr12:2621912 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.1669+54G>A single nucleotide variant Long QT syndrome [RCV001079144]|not provided [RCV000832604] Chr12:2566636 [GRCh38]
Chr12:2675802 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4956+13G>A single nucleotide variant Long QT syndrome [RCV002067508]|not provided [RCV000838282] Chr12:2677234 [GRCh38]
Chr12:2786400 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5445-841_5445-840insCTC insertion not provided [RCV000838317] Chr12:2681709..2681710 [GRCh38]
Chr12:2790875..2790876 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4829-145C>G single nucleotide variant Long QT syndrome [RCV001083909]|not provided [RCV000832847] Chr12:2676949 [GRCh38]
Chr12:2786115 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5091+3G>A single nucleotide variant Cardiovascular phenotype [RCV002336729]|Long QT syndrome [RCV000824511]|not provided [RCV001675964] Chr12:2677870 [GRCh38]
Chr12:2787036 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3898A>G (p.Ile1300Val) single nucleotide variant Long QT syndrome [RCV000824554] Chr12:2634366 [GRCh38]
Chr12:2743532 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5091+25C>T single nucleotide variant not provided [RCV000830113] Chr12:2677892 [GRCh38]
Chr12:2787058 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1114-438T>G single nucleotide variant Long QT syndrome [RCV001083533]|not provided [RCV000834888] Chr12:2504404 [GRCh38]
Chr12:2613570 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.1114-145A>G single nucleotide variant Long QT syndrome [RCV001083532]|not provided [RCV000834889] Chr12:2504697 [GRCh38]
Chr12:2613863 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.758-259A>C single nucleotide variant Long QT syndrome [RCV001084058]|not provided [RCV000843431] Chr12:2485845 [GRCh38]
Chr12:2595011 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1114-679A>G single nucleotide variant Long QT syndrome [RCV001084405]|not provided [RCV000843432] Chr12:2504163 [GRCh38]
Chr12:2613329 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4527-67C>T single nucleotide variant Long QT syndrome [RCV001082406]|not provided [RCV000834962] Chr12:2666619 [GRCh38]
Chr12:2775785 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.973C>A (p.Gln325Lys) single nucleotide variant Long QT syndrome [RCV000818421] Chr12:2493246 [GRCh38]
Chr12:2602412 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3852T>C (p.Asn1284=) single nucleotide variant Cardiovascular phenotype [RCV003169394]|Long QT syndrome [RCV001481903] Chr12:2634320 [GRCh38]
Chr12:2743486 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4819C>T (p.Pro1607Ser) single nucleotide variant Long QT syndrome [RCV000812343] Chr12:2674633 [GRCh38]
Chr12:2783799 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=) single nucleotide variant Cardiovascular phenotype [RCV002320009]|Long QT syndrome [RCV001089094]|not provided [RCV000870002]|not specified [RCV001192662] Chr12:2120361 [GRCh38]
Chr12:2229527 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter) single nucleotide variant Timothy syndrome [RCV000988767] Chr12:2493386 [GRCh38]
Chr12:2602552 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.1114-487A>G single nucleotide variant Long QT syndrome [RCV001079848]|Timothy syndrome [RCV001554439]|not provided [RCV000830991] Chr12:2504355 [GRCh38]
Chr12:2613521 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1508+205A>G single nucleotide variant Long QT syndrome [RCV001079850]|not provided [RCV000831008] Chr12:2557182 [GRCh38]
Chr12:2666348 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3718-81T>C single nucleotide variant Long QT syndrome [RCV001079852]|Timothy syndrome [RCV001554537]|not provided [RCV000831015] Chr12:2611822 [GRCh38]
Chr12:2720988 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3945+83T>C single nucleotide variant Long QT syndrome [RCV001079854]|Timothy syndrome [RCV001554532]|not provided [RCV000831016] Chr12:2648590 [GRCh38]
Chr12:2757756 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.758-38G>A single nucleotide variant Long QT syndrome [RCV001082407]|not provided [RCV000833528] Chr12:2486066 [GRCh38]
Chr12:2595232 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3357-172G>T single nucleotide variant Long QT syndrome [RCV001083448]|not provided [RCV000831197] Chr12:2608339 [GRCh38]
Chr12:2717505 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.299C>T (p.Pro100Leu) single nucleotide variant Long QT syndrome [RCV000795761] Chr12:2115473 [GRCh38]
Chr12:2224639 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3311C>T (p.Ala1104Val) single nucleotide variant Long QT syndrome [RCV000818677] Chr12:2607085 [GRCh38]
Chr12:2716251 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4176G>A (p.Glu1392=) single nucleotide variant Long QT syndrome [RCV001426572] Chr12:2655182 [GRCh38]
Chr12:2764348 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1204G>C (p.Gly402Arg) single nucleotide variant not provided [RCV000994768] Chr12:2504932 [GRCh38]
Chr12:2614098 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2358G>A (p.Lys786=) single nucleotide variant not provided [RCV000994770] Chr12:2585394 [GRCh38]
Chr12:2694560 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3945+212C>T single nucleotide variant Long QT syndrome [RCV001079531]|not provided [RCV000835447] Chr12:2648719 [GRCh38]
Chr12:2757885 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.2103+190A>G single nucleotide variant not provided [RCV000835457] Chr12:2581987 [GRCh38]
Chr12:2691153 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4398+249A>G single nucleotide variant not provided [RCV000839093] Chr12:2665239 [GRCh38]
Chr12:2774405 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5480G>A (p.Gly1827Asp) single nucleotide variant Long QT syndrome [RCV000813452] Chr12:2682585 [GRCh38]
Chr12:2791751 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3718-216G>A single nucleotide variant Long QT syndrome [RCV001084976]|not provided [RCV000831651] Chr12:2611687 [GRCh38]
Chr12:2720853 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5574-176C>T single nucleotide variant Long QT syndrome [RCV001083689]|not provided [RCV000833650] Chr12:2685560 [GRCh38]
Chr12:2794726 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2853+438C>T single nucleotide variant not provided [RCV000838289] Chr12:2597727 [GRCh38]
Chr12:2706893 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3356+180C>T single nucleotide variant Long QT syndrome [RCV001080480]|not provided [RCV000831014] Chr12:2607310 [GRCh38]
Chr12:2716476 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3945+96T>C single nucleotide variant Long QT syndrome [RCV001079855]|Timothy syndrome [RCV001554538]|not provided [RCV000831017] Chr12:2648603 [GRCh38]
Chr12:2757769 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5398C>T (p.Pro1800Ser) single nucleotide variant Cardiovascular phenotype [RCV002345783]|Long QT syndrome [RCV000800202]|not provided [RCV003480837] Chr12:2679750 [GRCh38]
Chr12:2788916 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1 copy number loss not provided [RCV000847821] Chr12:173786..6346092 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_000719.7(CACNA1C):c.3829-525A>G single nucleotide variant not provided [RCV000834586] Chr12:2633772 [GRCh38]
Chr12:2742938 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5445-170A>G single nucleotide variant not provided [RCV000834664] Chr12:2682380 [GRCh38]
Chr12:2791546 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3718-131C>T single nucleotide variant not provided [RCV000835153] Chr12:2611772 [GRCh38]
Chr12:2720938 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.917-177G>A single nucleotide variant Long QT syndrome [RCV001081106]|not provided [RCV000831188] Chr12:2493013 [GRCh38]
Chr12:2602179 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.615G>A (p.Val205=) single nucleotide variant Long QT syndrome [RCV001869280]|not provided [RCV000831424] Chr12:2449113 [GRCh38]
Chr12:2558279 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.6394A>G (p.Arg2132Gly) single nucleotide variant Cardiovascular phenotype [RCV003166369]|Long QT syndrome [RCV000817455] Chr12:2691176 [GRCh38]
Chr12:2800342 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.810C>T (p.His270=) single nucleotide variant Cardiovascular phenotype [RCV003169075]|Long QT syndrome [RCV001485735]|not provided [RCV000841939] Chr12:2486156 [GRCh38]
Chr12:2595322 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1429G>A (p.Glu477Lys) single nucleotide variant Long QT syndrome [RCV000801192]|Timothy syndrome [RCV002487695] Chr12:2549981 [GRCh38]
Chr12:2659147 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5139C>A (p.Asp1713Glu) single nucleotide variant Long QT syndrome [RCV000820824] Chr12:2679491 [GRCh38]
Chr12:2788657 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2395T>A (p.Ser799Thr) single nucleotide variant Cardiovascular phenotype [RCV003353065]|Long QT syndrome [RCV000823658] Chr12:2585431 [GRCh38]
Chr12:2694597 [GRCh37]
Chr12:12p13.33
benign|uncertain significance
NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg) single nucleotide variant Long QT syndrome [RCV001856203]|Long qt syndrome 8 [RCV000782177] Chr12:2593252 [GRCh38]
Chr12:2702418 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.2500A>G (p.Lys834Glu) single nucleotide variant Long qt syndrome 8 [RCV000782179] Chr12:2585874 [GRCh38]
Chr12:2695040 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met) single nucleotide variant Long qt syndrome 8 [RCV000782182] Chr12:2665607 [GRCh38]
Chr12:2774773 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp) single nucleotide variant Long qt syndrome 8 [RCV000782181] Chr12:2567644 [GRCh38]
Chr12:2676810 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.1937A>C (p.Asn646Thr) single nucleotide variant Long QT syndrome [RCV000804940] Chr12:2581631 [GRCh38]
Chr12:2690797 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4624-331A>G single nucleotide variant not provided [RCV000832535] Chr12:2668602 [GRCh38]
Chr12:2777768 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3460G>T (p.Ala1154Ser) single nucleotide variant Long QT syndrome [RCV000801837] Chr12:2608614 [GRCh38]
Chr12:2717780 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2104-311T>C single nucleotide variant Long QT syndrome [RCV001085102]|not provided [RCV000829015] Chr12:2582511 [GRCh38]
Chr12:2691677 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5114A>G (p.Asn1705Ser) single nucleotide variant Long QT syndrome [RCV001044480] Chr12:2679466 [GRCh38]
Chr12:2788632 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4336C>G (p.Pro1446Ala) single nucleotide variant Long QT syndrome [RCV000793621] Chr12:2664928 [GRCh38]
Chr12:2774094 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.287C>T (p.Thr96Met) single nucleotide variant Long QT syndrome [RCV001046334] Chr12:2115461 [GRCh38]
Chr12:2224627 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1482-296C>G single nucleotide variant Long QT syndrome [RCV001082458]|not provided [RCV000828687] Chr12:2556655 [GRCh38]
Chr12:2665821 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4074+36G>A single nucleotide variant Timothy syndrome [RCV001554541]|not provided [RCV000830112] Chr12:2651804 [GRCh38]
Chr12:2760970 [GRCh37]
Chr12:12p13.33
benign
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_000719.7(CACNA1C):c.3945+109C>T single nucleotide variant Long QT syndrome [RCV001079853]|Timothy syndrome [RCV001554539]|not provided [RCV000831018] Chr12:2648616 [GRCh38]
Chr12:2757782 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5407C>T (p.Arg1803Trp) single nucleotide variant Cardiovascular phenotype [RCV002345772]|Long QT syndrome [RCV000798366] Chr12:2679759 [GRCh38]
Chr12:2788925 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2837T>C (p.Ile946Thr) single nucleotide variant Long QT syndrome [RCV000798495] Chr12:2597273 [GRCh38]
Chr12:2706439 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2664-226C>G single nucleotide variant Long QT syndrome [RCV000860670] Chr12:2595648 [GRCh38]
Chr12:2704814 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4705G>A (p.Ala1569Thr) single nucleotide variant Long QT syndrome [RCV000815189] Chr12:2669014 [GRCh38]
Chr12:2778180 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3599G>A (p.Arg1200Gln) single nucleotide variant Long QT syndrome [RCV000801954]|not provided [RCV002223246] Chr12:2610581 [GRCh38]
Chr12:2719747 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.-360G>A single nucleotide variant not provided [RCV000843413] Chr12:2053203 [GRCh38]
Chr12:2162369 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1481+743C>T single nucleotide variant Long QT syndrome [RCV000943044] Chr12:2550776 [GRCh38]
Chr12:2659942 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3913-6520C>A single nucleotide variant Long QT syndrome [RCV000943045] Chr12:2641955 [GRCh38]
Chr12:2751121 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2663+188C>T single nucleotide variant Long QT syndrome [RCV001083328]|not provided [RCV000833630] Chr12:2593533 [GRCh38]
Chr12:2702699 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.49+255G>A single nucleotide variant Long QT syndrome [RCV001079857]|not provided [RCV000843414] Chr12:2053866 [GRCh38]
Chr12:2163032 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.617+286T>C single nucleotide variant Long QT syndrome [RCV001081762]|not provided [RCV000843416] Chr12:2449401 [GRCh38]
Chr12:2558567 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.757+305T>G single nucleotide variant not provided [RCV000843417] Chr12:2458011 [GRCh38]
Chr12:2567177 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1508+264T>A single nucleotide variant Long QT syndrome [RCV001083236]|not provided [RCV000843418] Chr12:2557241 [GRCh38]
Chr12:2666407 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1508+316G>A single nucleotide variant Long QT syndrome [RCV001080475]|not provided [RCV000843424] Chr12:2557293 [GRCh38]
Chr12:2666459 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1508+317C>T single nucleotide variant Long QT syndrome [RCV001080476]|not provided [RCV000843426] Chr12:2557294 [GRCh38]
Chr12:2666460 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1895+304A>G single nucleotide variant Long QT syndrome [RCV001080477]|not provided [RCV000843427] Chr12:2568098 [GRCh38]
Chr12:2677264 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3913-270A>C single nucleotide variant Long QT syndrome [RCV001083449]|not provided [RCV000843428] Chr12:2648205 [GRCh38]
Chr12:2757371 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5444+259A>G single nucleotide variant Long QT syndrome [RCV001081759]|not provided [RCV000843429] Chr12:2680055 [GRCh38]
Chr12:2789221 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2853+457C>T single nucleotide variant Long QT syndrome [RCV001083447]|not provided [RCV000843433] Chr12:2597746 [GRCh38]
Chr12:2706912 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3718-333T>C single nucleotide variant not provided [RCV000843434] Chr12:2611570 [GRCh38]
Chr12:2720736 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1670-52C>T single nucleotide variant Long QT syndrome [RCV001079851]|Timothy syndrome [RCV001554528]|not provided [RCV000831009] Chr12:2567517 [GRCh38]
Chr12:2676683 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1896-54G>A single nucleotide variant Long QT syndrome [RCV001081261]|Timothy syndrome [RCV001554529]|not provided [RCV000831010] Chr12:2581536 [GRCh38]
Chr12:2690702 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2853+265G>C single nucleotide variant Long QT syndrome [RCV001080478]|Timothy syndrome [RCV001554530]|not provided [RCV000831011] Chr12:2597554 [GRCh38]
Chr12:2706720 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4233-136G>A single nucleotide variant Long QT syndrome [RCV001084473]|not provided [RCV000831019] Chr12:2664689 [GRCh38]
Chr12:2773855 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4727-231T>C single nucleotide variant Long QT syndrome [RCV001081105]|Timothy syndrome [RCV001554543]|not provided [RCV000831020] Chr12:2674310 [GRCh38]
Chr12:2783476 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4828+164T>C single nucleotide variant Long QT syndrome [RCV001079856]|not provided [RCV000831021] Chr12:2674806 [GRCh38]
Chr12:2783972 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5681-77C>T single nucleotide variant Long QT syndrome [RCV001081760]|Timothy syndrome [RCV001554658]|not provided [RCV000831022] Chr12:2686089 [GRCh38]
Chr12:2795255 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.6117+206G>A single nucleotide variant Long QT syndrome [RCV001081761]|not provided [RCV000831023] Chr12:2688985 [GRCh38]
Chr12:2798151 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.371+121C>T single nucleotide variant not provided [RCV000833817] Chr12:2115666 [GRCh38]
Chr12:2224832 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5385G>T (p.Gly1795=) single nucleotide variant Long QT syndrome [RCV001453877] Chr12:2679737 [GRCh38]
Chr12:2788903 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2103+297C>G single nucleotide variant Long QT syndrome [RCV000860170] Chr12:2582094 [GRCh38]
Chr12:2691260 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4233-121A>G single nucleotide variant Long QT syndrome [RCV000860172]|not provided [RCV001615057] Chr12:2664704 [GRCh38]
Chr12:2773870 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.275A>C (p.Gln92Pro) single nucleotide variant Long QT syndrome [RCV000813007] Chr12:2115449 [GRCh38]
Chr12:2224615 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.478-137C>T single nucleotide variant Long QT syndrome [RCV001084158]|not provided [RCV000831194] Chr12:2448839 [GRCh38]
Chr12:2558005 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1114-587G>A single nucleotide variant Long QT syndrome [RCV001086154]|not provided [RCV000833976] Chr12:2504255 [GRCh38]
Chr12:2613421 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.917-20T>C single nucleotide variant Long QT syndrome [RCV002067528]|not provided [RCV000840873] Chr12:2493170 [GRCh38]
Chr12:2602336 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2853+440G>A single nucleotide variant Long QT syndrome [RCV000861067]|not provided [RCV001538618] Chr12:2597729 [GRCh38]
Chr12:2706895 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1390+236G>A single nucleotide variant Long QT syndrome [RCV001080474]|not provided [RCV000837634] Chr12:2513220 [GRCh38]
Chr12:2622386 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1390+243T>C single nucleotide variant Long QT syndrome [RCV001084406]|not provided [RCV000837635] Chr12:2513227 [GRCh38]
Chr12:2622393 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3049-126C>T single nucleotide variant Long QT syndrome [RCV000861256]|not provided [RCV001551855] Chr12:2605553 [GRCh38]
Chr12:2714719 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5869G>C (p.Ala1957Pro) single nucleotide variant Long QT syndrome [RCV000808005] Chr12:2688531 [GRCh38]
Chr12:2797697 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2797593)_(2800385_?)dup duplication Long QT syndrome [RCV000797478] Chr12:2688427..2691219 [GRCh38]
Chr12:2797593..2800385 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2663+79C>T single nucleotide variant Long QT syndrome [RCV001082305]|not provided [RCV000829171] Chr12:2593424 [GRCh38]
Chr12:2702590 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4726+156G>A single nucleotide variant Long QT syndrome [RCV000861445] Chr12:2669191 [GRCh38]
Chr12:2778357 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4117A>G (p.Ile1373Val) single nucleotide variant Long QT syndrome [RCV000808489] Chr12:2653877 [GRCh38]
Chr12:2763043 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1390+188A>G single nucleotide variant Long QT syndrome [RCV001084895]|not provided [RCV000834864] Chr12:2513172 [GRCh38]
Chr12:2622338 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2545G>A (p.Glu849Lys) single nucleotide variant Long QT syndrome [RCV000800183] Chr12:2593227 [GRCh38]
Chr12:2702393 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5976C>T (p.Cys1992=) single nucleotide variant Cardiovascular phenotype [RCV002354687]|Long QT syndrome [RCV000874156] Chr12:2688638 [GRCh38]
Chr12:2797804 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6040G>T (p.Val2014Phe) single nucleotide variant Long QT syndrome [RCV000817130] Chr12:2688702 [GRCh38]
Chr12:2797868 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5577C>T (p.Leu1859=) single nucleotide variant Long QT syndrome [RCV001503787] Chr12:2685739 [GRCh38]
Chr12:2794905 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5557C>G (p.Leu1853Val) single nucleotide variant Long QT syndrome [RCV000820720] Chr12:2682662 [GRCh38]
Chr12:2791828 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1605C>T (p.Phe535=) single nucleotide variant Long QT syndrome [RCV001491924] Chr12:2566518 [GRCh38]
Chr12:2675684 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5445-842GA[4] microsatellite not provided [RCV000838316] Chr12:2681708..2681709 [GRCh38]
Chr12:2790874..2790875 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4399-79C>A single nucleotide variant Long QT syndrome [RCV001080481]|Timothy syndrome [RCV001554542]|not provided [RCV000830106] Chr12:2665502 [GRCh38]
Chr12:2774668 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2224+78T>G single nucleotide variant Long QT syndrome [RCV001081757]|not provided [RCV000830111] Chr12:2583020 [GRCh38]
Chr12:2692186 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3946-98G>A single nucleotide variant Timothy syndrome [RCV001554533]|not provided [RCV000830131] Chr12:2651542 [GRCh38]
Chr12:2760708 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.6117+5G>C single nucleotide variant Long QT syndrome [RCV000801091] Chr12:2688784 [GRCh38]
Chr12:2797950 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2794-136G>T single nucleotide variant Long QT syndrome [RCV000860433]|not provided [RCV001577246] Chr12:2597094 [GRCh38]
Chr12:2706260 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.2853+212T>C single nucleotide variant Long QT syndrome [RCV001493369] Chr12:2597501 [GRCh38]
Chr12:2706667 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2339+104C>G single nucleotide variant Long QT syndrome [RCV000860501]|not provided [RCV001637996] Chr12:2584721 [GRCh38]
Chr12:2693887 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2460+160T>G single nucleotide variant Long QT syndrome [RCV000860502]|not provided [RCV001637997] Chr12:2585656 [GRCh38]
Chr12:2694822 [GRCh37]
Chr12:12p13.33
benign
GRCh37/hg19 12p13.33(chr12:2794031-2844076)x3 copy number gain not provided [RCV000847463] Chr12:2794031..2844076 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.12:g.(?_2686156)_(2691209_?)del deletion Long QT syndrome [RCV001032007] Chr12:2795322..2800375 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_000719.7(CACNA1C):c.187A>G (p.Lys63Glu) single nucleotide variant Long QT syndrome [RCV001065169] Chr12:2115361 [GRCh38]
Chr12:2224527 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33(chr12:2794331-2851075)x1 copy number loss not provided [RCV000848165] Chr12:2794331..2851075 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.163G>A (p.Ala55Thr) single nucleotide variant Long QT syndrome [RCV001068733] Chr12:2115337 [GRCh38]
Chr12:2224503 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.594A>G (p.Leu198=) single nucleotide variant Cardiovascular phenotype [RCV002352577]|Long QT syndrome [RCV000870753] Chr12:2449092 [GRCh38]
Chr12:2558258 [GRCh37]
Chr12:12p13.33
likely benign
GRCh37/hg19 12p13.33(chr12:2078015-2316617)x3 copy number gain not provided [RCV000846240] Chr12:2078015..2316617 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2457C>G (p.Thr819=) single nucleotide variant not provided [RCV000936884] Chr12:2585493 [GRCh38]
Chr12:2694659 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2664G>C (p.Arg888Ser) single nucleotide variant CACNA1C-related condition [RCV003405417]|Cardiovascular phenotype [RCV003365271]|Long QT syndrome [RCV001229088] Chr12:2595874 [GRCh38]
Chr12:2705040 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4637T>C (p.Met1546Thr) single nucleotide variant Long QT syndrome [RCV001203071] Chr12:2668946 [GRCh38]
Chr12:2778112 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6279C>T (p.Ala2093=) single nucleotide variant Cardiovascular phenotype [RCV002365887]|Long QT syndrome [RCV001475053]|not specified [RCV001192659] Chr12:2691061 [GRCh38]
Chr12:2800227 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5533A>C (p.Thr1845Pro) single nucleotide variant not provided [RCV000994775] Chr12:2682638 [GRCh38]
Chr12:2791804 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5714A>G (p.Lys1905Arg) single nucleotide variant Long QT syndrome [RCV001230156] Chr12:2686199 [GRCh38]
Chr12:2795365 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4858G>A (p.Ala1620Thr) single nucleotide variant Long QT syndrome [RCV001209098]|not provided [RCV003235495] Chr12:2677123 [GRCh38]
Chr12:2786289 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.248G>A (p.Arg83Gln) single nucleotide variant Long QT syndrome [RCV001205786]|not specified [RCV001586047] Chr12:2115422 [GRCh38]
Chr12:2224588 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4369A>G (p.Ile1457Val) single nucleotide variant Long QT syndrome [RCV001221917] Chr12:2664961 [GRCh38]
Chr12:2774127 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.217A>G (p.Ile73Val) single nucleotide variant Long QT syndrome [RCV001212668] Chr12:2115391 [GRCh38]
Chr12:2224557 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1896G>A (p.Arg632=) single nucleotide variant Long QT syndrome [RCV001216212] Chr12:2581590 [GRCh38]
Chr12:2690756 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2572C>A (p.Arg858Ser) single nucleotide variant Long QT syndrome [RCV001233577] Chr12:2593254 [GRCh38]
Chr12:2702420 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5502T>G (p.Asp1834Glu) single nucleotide variant Long QT syndrome [RCV001203236] Chr12:2682607 [GRCh38]
Chr12:2791773 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5236G>A (p.Glu1746Lys) single nucleotide variant Cardiovascular phenotype [RCV002339673]|Long QT syndrome [RCV001242855] Chr12:2679588 [GRCh38]
Chr12:2788754 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.182A>C (p.Gln61Pro) single nucleotide variant Long QT syndrome [RCV001237215] Chr12:2115356 [GRCh38]
Chr12:2224522 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4025G>A (p.Arg1342His) single nucleotide variant Long QT syndrome [RCV001237906]|not provided [RCV003151841] Chr12:2651719 [GRCh38]
Chr12:2760885 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3357-3C>T single nucleotide variant Long QT syndrome [RCV001223111] Chr12:2608508 [GRCh38]
Chr12:2717674 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.699del (p.Lys234fs) deletion Long QT syndrome [RCV001234920] Chr12:2457648 [GRCh38]
Chr12:2566814 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3454A>T (p.Ile1152Phe) single nucleotide variant Long QT syndrome [RCV001237826] Chr12:2608608 [GRCh38]
Chr12:2717774 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6287C>A (p.Pro2096His) single nucleotide variant Cardiovascular phenotype [RCV003365277]|Long QT syndrome [RCV001235087] Chr12:2691069 [GRCh38]
Chr12:2800235 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2460+5G>A single nucleotide variant Long QT syndrome [RCV001240467] Chr12:2585501 [GRCh38]
Chr12:2694667 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2853+148A>G single nucleotide variant Long QT syndrome [RCV001210377] Chr12:2597437 [GRCh38]
Chr12:2706603 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5048T>G (p.Met1683Arg) single nucleotide variant Long QT syndrome [RCV001211337] Chr12:2677824 [GRCh38]
Chr12:2786990 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.137C>T (p.Pro46Leu) single nucleotide variant Long QT syndrome [RCV001229896]|Timothy syndrome [RCV003336350] Chr12:2115311 [GRCh38]
Chr12:2224477 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2816T>C (p.Val939Ala) single nucleotide variant Cardiovascular phenotype [RCV002436842]|Long QT syndrome [RCV001219053] Chr12:2597252 [GRCh38]
Chr12:2706418 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3048+3G>A single nucleotide variant Long QT syndrome [RCV001219376] Chr12:2605171 [GRCh38]
Chr12:2714337 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5485GAG[1] (p.Glu1830del) microsatellite Long QT syndrome [RCV001245465]|Timothy syndrome [RCV000853594] Chr12:2682588..2682590 [GRCh38]
Chr12:2791754..2791756 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.502A>G (p.Ile168Val) single nucleotide variant not provided [RCV003318012] Chr12:2449000 [GRCh38]
Chr12:2558166 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4957-1G>A single nucleotide variant not provided [RCV003318049] Chr12:2677732 [GRCh38]
Chr12:2786898 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4289A>C (p.Lys1430Thr) single nucleotide variant Timothy syndrome [RCV000988769] Chr12:2664881 [GRCh38]
Chr12:2774047 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2455A>G (p.Thr819Ala) single nucleotide variant Cardiovascular phenotype [RCV002447081]|Long QT syndrome [RCV001212644] Chr12:2585491 [GRCh38]
Chr12:2694657 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.-3T>C single nucleotide variant Cardiovascular phenotype [RCV002375020]|not provided [RCV001093113] Chr12:2053560 [GRCh38]
Chr12:2162726 [GRCh37]
Chr12:12p13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.3156+17G>A single nucleotide variant Long QT syndrome [RCV002069242]|not provided [RCV001712885]|not specified [RCV001194036] Chr12:2605803 [GRCh38]
Chr12:2714969 [GRCh37]
Chr12:12p13.33
benign
NC_000012.11:g.(?_2016586)_(2558301_?)dup duplication Long QT syndrome [RCV003105307] Chr12:2016586..2558301 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.563A>G (p.Asn188Ser) single nucleotide variant Long QT syndrome [RCV003106425] Chr12:2449061 [GRCh38]
Chr12:2558227 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2162729)_(2800365_?)del deletion Long QT syndrome [RCV003105305] Chr12:2162729..2800365 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_1949885)_(2764424_?)dup duplication Long QT syndrome [RCV003105306] Chr12:1949885..2764424 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2690736)_(2800365_?)dup duplication Long QT syndrome [RCV003105308] Chr12:2690736..2800365 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2794882)_(2795455_?)dup duplication Long QT syndrome [RCV003105309] Chr12:2794882..2795455 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2558122)_(2800365_?)dup duplication Long QT syndrome [RCV003105311] Chr12:2558122..2800365 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2853+448G>A single nucleotide variant not provided [RCV001546109] Chr12:2597737 [GRCh38]
Chr12:2706903 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.477+264_477+269dup duplication not provided [RCV001577291] Chr12:2120692..2120693 [GRCh38]
Chr12:2229858..2229859 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4957-32G>A single nucleotide variant not provided [RCV001547730] Chr12:2677701 [GRCh38]
Chr12:2786867 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2664G>T (p.Arg888Ser) single nucleotide variant Long QT syndrome [RCV003106863] Chr12:2595874 [GRCh38]
Chr12:2705040 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4726+258T>G single nucleotide variant not provided [RCV001694973] Chr12:2669293 [GRCh38]
Chr12:2778459 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3577G>A (p.Ala1193Thr) single nucleotide variant Timothy syndrome [RCV003227983]|not provided [RCV001658952] Chr12:2610559 [GRCh38]
Chr12:2719725 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2103+140G>A single nucleotide variant not provided [RCV001555682] Chr12:2581937 [GRCh38]
Chr12:2691103 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5445-186T>C single nucleotide variant not provided [RCV001561025] Chr12:2682364 [GRCh38]
Chr12:2791530 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1218-214C>T single nucleotide variant not provided [RCV001555900] Chr12:2512598 [GRCh38]
Chr12:2621764 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5445-256dup duplication not provided [RCV001709977] Chr12:2682290..2682291 [GRCh38]
Chr12:2791456..2791457 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4957-48_4957-41dup duplication not provided [RCV001556877] Chr12:2677684..2677685 [GRCh38]
Chr12:2786850..2786851 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5177G>A (p.Arg1726His) single nucleotide variant not provided [RCV001562201] Chr12:2679529 [GRCh38]
Chr12:2788695 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.477+227TG[23] microsatellite not provided [RCV001709306] Chr12:2120656..2120657 [GRCh38]
Chr12:2229822..2229823 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2531-34G>A single nucleotide variant not provided [RCV001557551] Chr12:2593179 [GRCh38]
Chr12:2702345 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3946-46C>G single nucleotide variant not provided [RCV001714402] Chr12:2651594 [GRCh38]
Chr12:2760760 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.6118-14C>T single nucleotide variant Long QT syndrome [RCV002073355]|not provided [RCV001714411] Chr12:2690886 [GRCh38]
Chr12:2800052 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4829-67dup duplication not provided [RCV001557664] Chr12:2677017..2677018 [GRCh38]
Chr12:2786183..2786184 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1114-422T>C single nucleotide variant not provided [RCV001714560] Chr12:2504420 [GRCh38]
Chr12:2613586 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.237G>A (p.Thr79=) single nucleotide variant Cardiovascular phenotype [RCV002458565]|Long QT syndrome [RCV002073323]|not provided [RCV001714687] Chr12:2115411 [GRCh38]
Chr12:2224577 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5784+64C>T single nucleotide variant not provided [RCV001564618] Chr12:2686333 [GRCh38]
Chr12:2795499 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5092-109A>G single nucleotide variant not provided [RCV001563410] Chr12:2679335 [GRCh38]
Chr12:2788501 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4956+147_4956+149dup duplication not provided [RCV001716450] Chr12:2677366..2677367 [GRCh38]
Chr12:2786532..2786533 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3985C>T (p.Arg1329Cys) single nucleotide variant not provided [RCV001582156] Chr12:2651679 [GRCh38]
Chr12:2760845 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.3946-84G>A single nucleotide variant not provided [RCV001620517] Chr12:2651556 [GRCh38]
Chr12:2760722 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3049-92G>A single nucleotide variant not provided [RCV001611818] Chr12:2605587 [GRCh38]
Chr12:2714753 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3912+116del deletion not provided [RCV001656909] Chr12:2634485 [GRCh38]
Chr12:2743651 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2853+216A>T single nucleotide variant not provided [RCV001677019] Chr12:2597505 [GRCh38]
Chr12:2706671 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5445-585G>A single nucleotide variant not provided [RCV001590032] Chr12:2681965 [GRCh38]
Chr12:2791131 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2853+212T>G single nucleotide variant not provided [RCV001714396] Chr12:2597501 [GRCh38]
Chr12:2706667 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.477+336C>T single nucleotide variant not provided [RCV001691900] Chr12:2120766 [GRCh38]
Chr12:2229932 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4624-38C>G single nucleotide variant not provided [RCV001610014] Chr12:2668895 [GRCh38]
Chr12:2778061 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5323C>T (p.Leu1775=) single nucleotide variant Long QT syndrome [RCV001443994] Chr12:2679675 [GRCh38]
Chr12:2788841 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6351G>A (p.Val2117=) single nucleotide variant Long QT syndrome [RCV001454150] Chr12:2691133 [GRCh38]
Chr12:2800299 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1104G>A (p.Val368=) single nucleotide variant Cardiovascular phenotype [RCV002453956]|Long QT syndrome [RCV000865816]|not provided [RCV001811519] Chr12:2493377 [GRCh38]
Chr12:2602543 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3717+69C>T single nucleotide variant Long QT syndrome [RCV000860352]|Timothy syndrome [RCV001554536]|not provided [RCV001712795] Chr12:2610768 [GRCh38]
Chr12:2719934 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.201C>T (p.Ser67=) single nucleotide variant Cardiovascular phenotype [RCV002416264]|Long QT syndrome [RCV000983612] Chr12:2115375 [GRCh38]
Chr12:2224541 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4828+196G>T single nucleotide variant Long QT syndrome [RCV000860505]|not provided [RCV001672960] Chr12:2674838 [GRCh38]
Chr12:2784004 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1481+189C>T single nucleotide variant Long QT syndrome [RCV000860534]|not provided [RCV001595046] Chr12:2550222 [GRCh38]
Chr12:2659388 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.916+207G>A single nucleotide variant Long QT syndrome [RCV000860570]|not provided [RCV001692293] Chr12:2486469 [GRCh38]
Chr12:2595635 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4140+259C>T single nucleotide variant Long QT syndrome [RCV000860596] Chr12:2654159 [GRCh38]
Chr12:2763325 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1965C>G (p.Leu655=) single nucleotide variant Long QT syndrome [RCV000862281] Chr12:2581659 [GRCh38]
Chr12:2690825 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.758-8C>T single nucleotide variant Long QT syndrome [RCV001442654] Chr12:2486096 [GRCh38]
Chr12:2595262 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5785-4G>A single nucleotide variant Long QT syndrome [RCV001087761] Chr12:2688443 [GRCh38]
Chr12:2797609 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5182C>T (p.Leu1728=) single nucleotide variant Long QT syndrome [RCV001433738] Chr12:2679534 [GRCh38]
Chr12:2788700 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1824C>A (p.Thr608=) single nucleotide variant Cardiovascular phenotype [RCV002409240]|Long QT syndrome [RCV000940434] Chr12:2567723 [GRCh38]
Chr12:2676889 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3285G>A (p.Lys1095=) single nucleotide variant Cardiovascular phenotype [RCV002444949]|Long QT syndrome [RCV000874169] Chr12:2607059 [GRCh38]
Chr12:2716225 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4947G>A (p.Leu1649=) single nucleotide variant Long QT syndrome [RCV001477213] Chr12:2677212 [GRCh38]
Chr12:2786378 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6324C>G (p.Ala2108=) single nucleotide variant Long QT syndrome [RCV001505965] Chr12:2691106 [GRCh38]
Chr12:2800272 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2979C>T (p.Val993=) single nucleotide variant Cardiovascular phenotype [RCV002434143]|Long QT syndrome [RCV001424220] Chr12:2605099 [GRCh38]
Chr12:2714265 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.390T>C (p.Ile130=) single nucleotide variant not provided [RCV000900505] Chr12:2120343 [GRCh38]
Chr12:2229509 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5680+7G>A single nucleotide variant Long QT syndrome [RCV000862687] Chr12:2685849 [GRCh38]
Chr12:2795015 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.258T>C (p.Tyr86=) single nucleotide variant Cardiovascular phenotype [RCV003307644]|Long QT syndrome [RCV000875125] Chr12:2115432 [GRCh38]
Chr12:2224598 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5568A>G (p.Thr1856=) single nucleotide variant Cardiovascular phenotype [RCV002346086]|Long QT syndrome [RCV000916426] Chr12:2682673 [GRCh38]
Chr12:2791839 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4044G>A (p.Thr1348=) single nucleotide variant Cardiovascular phenotype [RCV002320157]|Long QT syndrome [RCV001460488] Chr12:2651738 [GRCh38]
Chr12:2760904 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6021C>T (p.Ala2007=) single nucleotide variant Cardiovascular phenotype [RCV002352572]|Long QT syndrome [RCV000870359] Chr12:2688683 [GRCh38]
Chr12:2797849 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6018C>T (p.Ser2006=) single nucleotide variant Cardiovascular phenotype [RCV002352569]|Long QT syndrome [RCV000870137] Chr12:2688680 [GRCh38]
Chr12:2797846 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5761C>T (p.Pro1921Ser) single nucleotide variant Esophageal atresia [RCV000984721] Chr12:2686246 [GRCh38]
Chr12:2795412 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1575C>T (p.Val525=) single nucleotide variant Long QT syndrome [RCV001409161] Chr12:2566488 [GRCh38]
Chr12:2675654 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.50-327C>G single nucleotide variant Long QT syndrome [RCV000860166] Chr12:2114897 [GRCh38]
Chr12:2224063 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1391-64del deletion Long QT syndrome [RCV000860168]|Timothy syndrome [RCV001554440] Chr12:2549879 [GRCh38]
Chr12:2659045 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.6187C>T (p.Leu2063=) single nucleotide variant Long QT syndrome [RCV001495792] Chr12:2690969 [GRCh38]
Chr12:2800135 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4726+73dup duplication Long QT syndrome [RCV000860301]|not provided [RCV001719163] Chr12:2669106..2669107 [GRCh38]
Chr12:2778272..2778273 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5445-262A>G single nucleotide variant Long QT syndrome [RCV000860305]|not provided [RCV001675967] Chr12:2682288 [GRCh38]
Chr12:2791454 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5444+795G>A single nucleotide variant not provided [RCV000870787] Chr12:2680591 [GRCh38]
Chr12:2789757 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3303T>C (p.Val1101=) single nucleotide variant Cardiovascular phenotype [RCV002454007]|Long QT syndrome [RCV001410319] Chr12:2607077 [GRCh38]
Chr12:2716243 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2103+293T>C single nucleotide variant Long QT syndrome [RCV000860500] Chr12:2582090 [GRCh38]
Chr12:2691256 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2531-169G>A single nucleotide variant Long QT syndrome [RCV000860504]|not provided [RCV001707854] Chr12:2593044 [GRCh38]
Chr12:2702210 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1053C>T (p.Phe351=) single nucleotide variant Cardiovascular phenotype [RCV002399941]|Long QT syndrome [RCV000872972] Chr12:2493326 [GRCh38]
Chr12:2602492 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1113+23C>A single nucleotide variant Long QT syndrome [RCV000860639] Chr12:2493409 [GRCh38]
Chr12:2602575 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4140+211G>A single nucleotide variant Long QT syndrome [RCV000860643] Chr12:2654111 [GRCh38]
Chr12:2763277 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.758-288A>G single nucleotide variant Long QT syndrome [RCV000861498]|not provided [RCV001541271] Chr12:2485816 [GRCh38]
Chr12:2594982 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3702C>T (p.Ile1234=) single nucleotide variant Long QT syndrome [RCV001499288] Chr12:2610684 [GRCh38]
Chr12:2719850 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4683C>T (p.Thr1561=) single nucleotide variant Long QT syndrome [RCV001487126] Chr12:2668992 [GRCh38]
Chr12:2778158 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5118C>T (p.His1706=) single nucleotide variant Cardiovascular phenotype [RCV003169467]|Long QT syndrome [RCV000951886] Chr12:2679470 [GRCh38]
Chr12:2788636 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.558C>T (p.His186=) single nucleotide variant Long QT syndrome [RCV001406989] Chr12:2449056 [GRCh38]
Chr12:2558222 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.897C>T (p.Tyr299=) single nucleotide variant Long QT syndrome [RCV001477821] Chr12:2486243 [GRCh38]
Chr12:2595409 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5784+149G>A single nucleotide variant Long QT syndrome [RCV000860963]|not provided [RCV001672963] Chr12:2686418 [GRCh38]
Chr12:2795584 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5535G>T (p.Thr1845=) single nucleotide variant Long QT syndrome [RCV001473777] Chr12:2682640 [GRCh38]
Chr12:2791806 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.102G>A (p.Ala34=) single nucleotide variant Cardiovascular phenotype [RCV002381935]|Long QT syndrome [RCV001393467]|Timothy syndrome [RCV002501248] Chr12:2115276 [GRCh38]
Chr12:2224442 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3913-6632A>G single nucleotide variant Long QT syndrome [RCV000942911] Chr12:2641843 [GRCh38]
Chr12:2751009 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4527-6T>A single nucleotide variant Long QT syndrome [RCV001407280] Chr12:2666680 [GRCh38]
Chr12:2775846 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1101C>T (p.Asp367=) single nucleotide variant Cardiovascular phenotype [RCV002427361]|Long QT syndrome [RCV001498923] Chr12:2493374 [GRCh38]
Chr12:2602540 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1896-126G>A single nucleotide variant Long QT syndrome [RCV000860169]|not provided [RCV001535380] Chr12:2581464 [GRCh38]
Chr12:2690630 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3829-954C>T single nucleotide variant Long QT syndrome [RCV000861948] Chr12:2633343 [GRCh38]
Chr12:2742509 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1441G>A (p.Gly481Arg) single nucleotide variant Long QT syndrome [RCV001247139] Chr12:2549993 [GRCh38]
Chr12:2659159 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6052G>A (p.Val2018Met) single nucleotide variant Long QT syndrome [RCV001070911] Chr12:2688714 [GRCh38]
Chr12:2797880 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala) single nucleotide variant Timothy syndrome [RCV001249681] Chr12:2457671 [GRCh38]
Chr12:2566837 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.5510A>G (p.Tyr1837Cys) single nucleotide variant Cardiovascular phenotype [RCV002348660]|Long QT syndrome [RCV001203453] Chr12:2682615 [GRCh38]
Chr12:2791781 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5344G>A (p.Ala1782Thr) single nucleotide variant Long QT syndrome [RCV001242579] Chr12:2679696 [GRCh38]
Chr12:2788862 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3473T>A (p.Met1158Lys) single nucleotide variant Long QT syndrome [RCV001243129] Chr12:2608627 [GRCh38]
Chr12:2717793 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.865C>A (p.Leu289Ile) single nucleotide variant CACNA1C-related condition [RCV003414055]|Cardiovascular phenotype [RCV002375288]|Long QT syndrome [RCV001243525]|not provided [RCV002223291] Chr12:2486211 [GRCh38]
Chr12:2595377 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5339G>A (p.Arg1780His) single nucleotide variant CACNA1C-related condition [RCV003414011]|Cardiovascular phenotype [RCV002348723]|Long QT syndrome [RCV001216732] Chr12:2679691 [GRCh38]
Chr12:2788857 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3748G>A (p.Ala1250Thr) single nucleotide variant Long QT syndrome [RCV001223595]|not provided [RCV002223287] Chr12:2611933 [GRCh38]
Chr12:2721099 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6361G>A (p.Gly2121Ser) single nucleotide variant Long QT syndrome [RCV001240112] Chr12:2691143 [GRCh38]
Chr12:2800309 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4726+3A>G single nucleotide variant Cardiovascular phenotype [RCV002339224]|Long QT syndrome [RCV001044450] Chr12:2669038 [GRCh38]
Chr12:2778204 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1360G>A (p.Glu454Lys) single nucleotide variant Long QT syndrome [RCV001044550] Chr12:2512954 [GRCh38]
Chr12:2622120 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.3926C>G (p.Thr1309Ser) single nucleotide variant Long QT syndrome [RCV001069724]|Long qt syndrome 8 [RCV003339458] Chr12:2648488 [GRCh38]
Chr12:2757654 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.12:g.(?_2448975)_(2691199_?)dup duplication Long QT syndrome [RCV001033674] Chr12:2558141..2800365 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5784+4G>T single nucleotide variant Long QT syndrome [RCV001045676]|Timothy syndrome [RCV002479280] Chr12:2686273 [GRCh38]
Chr12:2795439 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1342G>T (p.Asp448Tyr) single nucleotide variant Long QT syndrome [RCV001045723] Chr12:2512936 [GRCh38]
Chr12:2622102 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe) single nucleotide variant Cardiovascular phenotype [RCV002445380]|not provided [RCV001093115] Chr12:2584562 [GRCh38]
Chr12:2693728 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NC_000012.12:g.(?_2690890)_(2691209_?)dup duplication Long QT syndrome [RCV001033706] Chr12:2800056..2800375 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5294C>A (p.Ala1765Asp) single nucleotide variant Long QT syndrome [RCV001227833] Chr12:2679646 [GRCh38]
Chr12:2788812 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4074+8C>T single nucleotide variant not provided [RCV000913359] Chr12:2651776 [GRCh38]
Chr12:2760942 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4971A>G (p.Thr1657=) single nucleotide variant Cardiovascular phenotype [RCV002336951]|Long QT syndrome [RCV001427442] Chr12:2677747 [GRCh38]
Chr12:2786913 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1842G>C (p.Leu614=) single nucleotide variant Long QT syndrome [RCV001471118] Chr12:2567741 [GRCh38]
Chr12:2676907 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4075-7del deletion Long QT syndrome [RCV002540825] Chr12:2653827 [GRCh38]
Chr12:2762993 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2178G>A (p.Gly726=) single nucleotide variant Long QT syndrome [RCV001447937] Chr12:2582896 [GRCh38]
Chr12:2692062 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3157-10T>C single nucleotide variant Long QT syndrome [RCV001414902] Chr12:2606601 [GRCh38]
Chr12:2715767 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.999G>A (p.Lys333=) single nucleotide variant Cardiovascular phenotype [RCV002382124]|Long QT syndrome [RCV001427858] Chr12:2493272 [GRCh38]
Chr12:2602438 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3913-22C>G single nucleotide variant not provided [RCV001562103] Chr12:2648453 [GRCh38]
Chr12:2757619 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6279C>G (p.Ala2093=) single nucleotide variant Long QT syndrome [RCV002857960] Chr12:2691061 [GRCh38]
Chr12:2800227 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1509-43A>G single nucleotide variant not provided [RCV001551451] Chr12:2566379 [GRCh38]
Chr12:2675545 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4828+204C>T single nucleotide variant not provided [RCV001577613] Chr12:2674846 [GRCh38]
Chr12:2784012 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2181G>T (p.Met727Ile) single nucleotide variant Brugada syndrome 3 [RCV003234837] Chr12:2582899 [GRCh38]
Chr12:2692065 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2853+155G>A single nucleotide variant not provided [RCV002467190] Chr12:2597444 [GRCh38]
Chr12:2706610 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5092-221G>A single nucleotide variant not provided [RCV001567635] Chr12:2679223 [GRCh38]
Chr12:2788389 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4910A>G (p.Gln1637Arg) single nucleotide variant Long qt syndrome 8 [RCV002470406] Chr12:2677175 [GRCh38]
Chr12:2786341 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3210-52C>T single nucleotide variant not provided [RCV001570744] Chr12:2606932 [GRCh38]
Chr12:2716098 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2409G>T (p.Lys803Asn) single nucleotide variant Brugada syndrome 3 [RCV002466826] Chr12:2585445 [GRCh38]
Chr12:2694611 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3460G>A (p.Ala1154Thr) single nucleotide variant Cardiovascular phenotype [RCV002458530]|Long QT syndrome [RCV003120631]|Timothy syndrome [RCV001563596] Chr12:2608614 [GRCh38]
Chr12:2717780 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4399-231C>T single nucleotide variant not provided [RCV001559474] Chr12:2665350 [GRCh38]
Chr12:2774516 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2530+66C>T single nucleotide variant not provided [RCV001717996] Chr12:2585970 [GRCh38]
Chr12:2695136 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3829-87_3829-86del deletion not provided [RCV001636033] Chr12:2634195..2634196 [GRCh38]
Chr12:2743361..2743362 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5956A>G (p.Ser1986Gly) single nucleotide variant not provided [RCV002259502] Chr12:2688618 [GRCh38]
Chr12:2797784 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2636C>T (p.Ala879Val) single nucleotide variant Timothy syndrome [RCV002506669]|not provided [RCV001566213] Chr12:2593318 [GRCh38]
Chr12:2702484 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1233G>C (p.Glu411Asp) single nucleotide variant Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003233023] Chr12:2512827 [GRCh38]
Chr12:2621993 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.2584C>T (p.Leu862Phe) single nucleotide variant not provided [RCV001555968] Chr12:2593266 [GRCh38]
Chr12:2702432 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3061T>C (p.Cys1021Arg) single nucleotide variant Long QT syndrome [RCV001865981]|Timothy syndrome [RCV003318403]|not provided [RCV001561495] Chr12:2605691 [GRCh38]
Chr12:2714857 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.4232+268G>A single nucleotide variant not provided [RCV001550697] Chr12:2655506 [GRCh38]
Chr12:2764672 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1113+81C>T single nucleotide variant not provided [RCV001576883] Chr12:2493467 [GRCh38]
Chr12:2602633 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.481C>T (p.Arg161Ter) single nucleotide variant not provided [RCV001576936] Chr12:2448979 [GRCh38]
Chr12:2558145 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.477+227TG[24] microsatellite not provided [RCV001576945] Chr12:2120656..2120657 [GRCh38]
Chr12:2229822..2229823 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2104-240G>A single nucleotide variant not provided [RCV001556462] Chr12:2582582 [GRCh38]
Chr12:2691748 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.688G>A (p.Gly230Arg) single nucleotide variant Long QT syndrome [RCV002573586]|not provided [RCV002467052] Chr12:2457637 [GRCh38]
Chr12:2566803 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33(chr12:2056363-2801698)x1 copy number loss not provided [RCV002473814] Chr12:2056363..2801698 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.770T>C (p.Val257Ala) single nucleotide variant Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV002466352] Chr12:2486116 [GRCh38]
Chr12:2595282 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.5731G>A (p.Gly1911Arg) single nucleotide variant Cardiovascular phenotype [RCV002348367]|Long QT syndrome [RCV001044393] Chr12:2686216 [GRCh38]
Chr12:2795382 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5445-591C>T single nucleotide variant not provided [RCV001615539] Chr12:2681959 [GRCh38]
Chr12:2791125 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4829-298A>G single nucleotide variant not provided [RCV001620761] Chr12:2676796 [GRCh38]
Chr12:2785962 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.855C>T (p.Ile285=) single nucleotide variant Cardiovascular phenotype [RCV002414289]|Long QT syndrome [RCV001873822]|not provided [RCV001654469] Chr12:2486201 [GRCh38]
Chr12:2595367 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3829-683C>T single nucleotide variant not provided [RCV001717060] Chr12:2633614 [GRCh38]
Chr12:2742780 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.477+227TG[19] microsatellite not provided [RCV001636437] Chr12:2120657..2120658 [GRCh38]
Chr12:2229823..2229824 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2103+12T>C single nucleotide variant not provided [RCV001718044] Chr12:2581809 [GRCh38]
Chr12:2690975 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.477+227TG[22] microsatellite not provided [RCV001688131] Chr12:2120656..2120657 [GRCh38]
Chr12:2229822..2229823 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3945+14T>C single nucleotide variant not provided [RCV001714399] Chr12:2648521 [GRCh38]
Chr12:2757687 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4829-24CT[3] microsatellite not provided [RCV001714403] Chr12:2677069..2677070 [GRCh38]
Chr12:2786235..2786236 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3912+189dup duplication not provided [RCV001677887] Chr12:2634556..2634557 [GRCh38]
Chr12:2743722..2743723 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3712A>G (p.Met1238Val) single nucleotide variant not provided [RCV001699969] Chr12:2610694 [GRCh38]
Chr12:2719860 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1968T>A (p.Leu656=) single nucleotide variant not provided [RCV001658731] Chr12:2581662 [GRCh38]
Chr12:2690828 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3946-137A>C single nucleotide variant not provided [RCV001657156] Chr12:2651503 [GRCh38]
Chr12:2760669 [GRCh37]
Chr12:12p13.33
benign
NM_001167623.2(CACNA1C):c.1125T>C (p.Ala375=) single nucleotide variant not provided [RCV001674628] Chr12:2504447 [GRCh38]
Chr12:2613613 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4527-2A>G single nucleotide variant not provided [RCV001592476] Chr12:2666684 [GRCh38]
Chr12:2775850 [GRCh37]
Chr12:12p13.33
pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.5779C>A (p.His1927Asn) single nucleotide variant Long QT syndrome [RCV001035330] Chr12:2686264 [GRCh38]
Chr12:2795430 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1390+11G>A single nucleotide variant Long QT syndrome [RCV002069203]|not specified [RCV001192661] Chr12:2512995 [GRCh38]
Chr12:2622161 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1522C>T (p.Arg508Trp) single nucleotide variant Cardiovascular phenotype [RCV003353148]|Long QT syndrome [RCV001069383] Chr12:2566435 [GRCh38]
Chr12:2675601 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3357-27C>A single nucleotide variant not provided [RCV001548300] Chr12:2608484 [GRCh38]
Chr12:2717650 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4956+17G>A single nucleotide variant Long QT syndrome [RCV002068757]|not provided [RCV001615108] Chr12:2677238 [GRCh38]
Chr12:2786404 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4213del (p.Ala1405fs) deletion Long QT syndrome [RCV001049140] Chr12:2655218 [GRCh38]
Chr12:2764384 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.477+227TG[21] microsatellite not provided [RCV001615963] Chr12:2120656..2120657 [GRCh38]
Chr12:2229822..2229823 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.-224T>C single nucleotide variant not provided [RCV001616771] Chr12:2053339 [GRCh38]
Chr12:2162505 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5574-21C>T single nucleotide variant not provided [RCV001587666] Chr12:2685715 [GRCh38]
Chr12:2794881 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1670-14C>T single nucleotide variant Long QT syndrome [RCV002568918]|not provided [RCV001534210] Chr12:2567555 [GRCh38]
Chr12:2676721 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4558C>A (p.Leu1520Ile) single nucleotide variant Long qt syndrome 8 [RCV001591642] Chr12:2666717 [GRCh38]
Chr12:2775883 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.12:g.(?_2685726)_(2691209_?)dup duplication Long QT syndrome [RCV001033581] Chr12:2794892..2800375 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2107C>T (p.Leu703=) single nucleotide variant not provided [RCV001692668] Chr12:2582825 [GRCh38]
Chr12:2691991 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3946-81C>A single nucleotide variant not provided [RCV001612373] Chr12:2651559 [GRCh38]
Chr12:2760725 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5444+439_5444+440insA insertion not provided [RCV001668654] Chr12:2680235..2680236 [GRCh38]
Chr12:2789401..2789402 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.372-3C>T single nucleotide variant not provided [RCV001714388] Chr12:2120322 [GRCh38]
Chr12:2229488 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3912+116dup duplication not provided [RCV001695959] Chr12:2634484..2634485 [GRCh38]
Chr12:2743650..2743651 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2794-229G>A single nucleotide variant not provided [RCV001566903] Chr12:2597001 [GRCh38]
Chr12:2706167 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1113+26A>C single nucleotide variant not provided [RCV001611756] Chr12:2493412 [GRCh38]
Chr12:2602578 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.758-190G>T single nucleotide variant not provided [RCV001695007] Chr12:2485914 [GRCh38]
Chr12:2595080 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.478-202dup duplication not provided [RCV001644150] Chr12:2448763..2448764 [GRCh38]
Chr12:2557929..2557930 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3829-86dup duplication not provided [RCV001669788] Chr12:2634194..2634195 [GRCh38]
Chr12:2743360..2743361 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.495C>A (p.Leu165=) single nucleotide variant not provided [RCV001714389] Chr12:2448993 [GRCh38]
Chr12:2558159 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1669+6C>T single nucleotide variant Long QT syndrome [RCV001034866]|not provided [RCV001683728] Chr12:2566588 [GRCh38]
Chr12:2675754 [GRCh37]
Chr12:12p13.33
benign|uncertain significance
NM_000719.7(CACNA1C):c.6328G>T (p.Gly2110Cys) single nucleotide variant Long QT syndrome [RCV001056234]|Timothy syndrome [RCV002471021] Chr12:2691110 [GRCh38]
Chr12:2800276 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4135A>G (p.Met1379Val) single nucleotide variant Long QT syndrome [RCV001218819] Chr12:2653895 [GRCh38]
Chr12:2763061 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.88A>G (p.Met30Val) single nucleotide variant Long QT syndrome [RCV001220246] Chr12:2115262 [GRCh38]
Chr12:2224428 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5254A>G (p.Thr1752Ala) single nucleotide variant Long QT syndrome [RCV001205173] Chr12:2679606 [GRCh38]
Chr12:2788772 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1217+5G>A single nucleotide variant Timothy syndrome [RCV001198936] Chr12:2504950 [GRCh38]
Chr12:2614116 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4956+5G>C single nucleotide variant Brugada syndrome [RCV001089638]|Cardiovascular phenotype [RCV002339391]|Long QT syndrome [RCV002554800] Chr12:2677226 [GRCh38]
Chr12:2786392 [GRCh37]
Chr12:12p13.33
benign|uncertain significance
NM_000719.7(CACNA1C):c.4666_4669dup (p.Met1557fs) duplication Cardiovascular phenotype [RCV002337088]|Long QT syndrome [RCV001036249] Chr12:2668972..2668973 [GRCh38]
Chr12:2778138..2778139 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5569G>A (p.Glu1857Lys) single nucleotide variant Long QT syndrome [RCV001212642] Chr12:2682674 [GRCh38]
Chr12:2791840 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5215G>A (p.Asp1739Asn) single nucleotide variant Long QT syndrome [RCV001053932] Chr12:2679567 [GRCh38]
Chr12:2788733 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2392G>A (p.Glu798Lys) single nucleotide variant Long QT syndrome [RCV001057966] Chr12:2585428 [GRCh38]
Chr12:2694594 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5933A>G (p.Glu1978Gly) single nucleotide variant Long QT syndrome [RCV001233985] Chr12:2688595 [GRCh38]
Chr12:2797761 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5680+6T>C single nucleotide variant Long QT syndrome [RCV001216768] Chr12:2685848 [GRCh38]
Chr12:2795014 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4176G>C (p.Glu1392Asp) single nucleotide variant Long QT syndrome [RCV001217194] Chr12:2655182 [GRCh38]
Chr12:2764348 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5637C>A (p.Ile1879=) single nucleotide variant Long QT syndrome [RCV001473623]|not provided [RCV001093117]|not specified [RCV001700973] Chr12:2685799 [GRCh38]
Chr12:2794965 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.1797C>T (p.Gly599=) single nucleotide variant Cardiovascular phenotype [RCV002411848]|Long QT syndrome [RCV001230629] Chr12:2567696 [GRCh38]
Chr12:2676862 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2536G>A (p.Glu846Lys) single nucleotide variant Cardiovascular phenotype [RCV003160264]|Long QT syndrome [RCV001040590]|not provided [RCV001772224] Chr12:2593218 [GRCh38]
Chr12:2702384 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.835A>G (p.Ile279Val) single nucleotide variant Long QT syndrome [RCV001235284]|not provided [RCV001751461] Chr12:2486181 [GRCh38]
Chr12:2595347 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5735G>A (p.Gly1912Glu) single nucleotide variant Long QT syndrome [RCV001215035] Chr12:2686220 [GRCh38]
Chr12:2795386 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5813TCC[1] (p.Leu1939del) microsatellite Cardiovascular phenotype [RCV002356893]|Long QT syndrome [RCV001208075] Chr12:2688473..2688475 [GRCh38]
Chr12:2797639..2797641 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5300_5314del (p.Ile1767_Asn1771del) deletion Long QT syndrome [RCV001233691] Chr12:2679641..2679655 [GRCh38]
Chr12:2788807..2788821 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2381C>T (p.Pro794Leu) single nucleotide variant Cardiovascular phenotype [RCV002451560]|Long QT syndrome [RCV001234011] Chr12:2585417 [GRCh38]
Chr12:2694583 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5636T>G (p.Ile1879Ser) single nucleotide variant Long QT syndrome [RCV001205902] Chr12:2685798 [GRCh38]
Chr12:2794964 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5894C>T (p.Pro1965Leu) single nucleotide variant Long QT syndrome [RCV001246201]|Timothy syndrome [RCV002484377] Chr12:2688556 [GRCh38]
Chr12:2797722 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2807T>G (p.Phe936Cys) single nucleotide variant Cardiovascular phenotype [RCV003160526]|Long QT syndrome [RCV001064289] Chr12:2597243 [GRCh38]
Chr12:2706409 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6123G>C (p.Leu2041Phe) single nucleotide variant not specified [RCV001192663] Chr12:2690905 [GRCh38]
Chr12:2800071 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2074T>A (p.Phe692Ile) single nucleotide variant not provided [RCV001200574] Chr12:2581768 [GRCh38]
Chr12:2690934 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3107C>G (p.Thr1036Ser) single nucleotide variant Long QT syndrome [RCV001062542] Chr12:2605737 [GRCh38]
Chr12:2714903 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1523G>A (p.Arg508Gln) single nucleotide variant Long QT syndrome [RCV001859198]|Timothy syndrome [RCV001197902] Chr12:2566436 [GRCh38]
Chr12:2675602 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2389G>A (p.Gly797Arg) single nucleotide variant Long QT syndrome [RCV001231763] Chr12:2585425 [GRCh38]
Chr12:2694591 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4821T>C (p.Pro1607=) single nucleotide variant Long QT syndrome [RCV002568755]|not specified [RCV001256730] Chr12:2674635 [GRCh38]
Chr12:2783801 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.6403G>T (p.Val2135Phe) single nucleotide variant Long QT syndrome [RCV001257204] Chr12:2691185 [GRCh38]
Chr12:2800351 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1A>C (p.Met1Leu) single nucleotide variant Intellectual disability [RCV001260649] Chr12:2053563 [GRCh38]
Chr12:2162729 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33(chr12:2019715-2674054)x3 copy number gain not provided [RCV001259133] Chr12:2019715..2674054 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1 copy number loss not provided [RCV001259134] Chr12:191242..4683495 [GRCh37]
Chr12:12p13.33-13.32
pathogenic
NM_000719.7(CACNA1C):c.3812T>C (p.Ile1271Thr) single nucleotide variant Long qt syndrome 8 [RCV001258375] Chr12:2611997 [GRCh38]
Chr12:2721163 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4578G>A (p.Pro1526=) single nucleotide variant Cardiovascular phenotype [RCV002339696]|Long QT syndrome [RCV001500007]|not provided [RCV001712889]|not specified [RCV001256870] Chr12:2666737 [GRCh38]
Chr12:2775903 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5574-13C>A single nucleotide variant not specified [RCV001255538] Chr12:2685723 [GRCh38]
Chr12:2794889 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr) single nucleotide variant Cardiovascular phenotype [RCV002431885]|Long QT syndrome [RCV001313869]|Timothy syndrome [RCV002476451] Chr12:2115256 [GRCh38]
Chr12:2224422 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.32del (p.Pro11fs) deletion Conduction disorder of the heart [RCV001256683] Chr12:2053593 [GRCh38]
Chr12:2162759 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.4531C>T (p.Arg1511Cys) single nucleotide variant Long QT syndrome [RCV001294526] Chr12:2666690 [GRCh38]
Chr12:2775856 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2387T>G (p.Val796Gly) single nucleotide variant Long QT syndrome [RCV001304064] Chr12:2585423 [GRCh38]
Chr12:2694589 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1481+1G>A single nucleotide variant Intellectual disability [RCV001260594] Chr12:2550034 [GRCh38]
Chr12:2659200 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1973T>C (p.Leu658Pro) single nucleotide variant Intellectual disability [RCV001260595] Chr12:2581667 [GRCh38]
Chr12:2690833 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.756A>G (p.Pro252=) single nucleotide variant Long QT syndrome [RCV001313290] Chr12:2457705 [GRCh38]
Chr12:2566871 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1529A>G (p.Asn510Ser) single nucleotide variant Neurodevelopmental abnormality [RCV001264689] Chr12:2566442 [GRCh38]
Chr12:2675608 [GRCh37]
Chr12:12p13.33
likely benign
GRCh37/hg19 12p13.33(chr12:2218209-2554428)x3 copy number gain not provided [RCV001259132] Chr12:2218209..2554428 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4202C>G (p.Thr1401Ser) single nucleotide variant Long QT syndrome [RCV001963805] Chr12:2655208 [GRCh38]
Chr12:2764374 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3088G>A (p.Gly1030Arg) single nucleotide variant Long QT syndrome [RCV001889443] Chr12:2605718 [GRCh38]
Chr12:2714884 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1255G>C (p.Gly419Arg) single nucleotide variant not provided [RCV001256731] Chr12:2512849 [GRCh38]
Chr12:2622015 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.6084G>T (p.Gln2028His) single nucleotide variant Cardiovascular phenotype [RCV002357126]|Long QT syndrome [RCV001313874] Chr12:2688746 [GRCh38]
Chr12:2797912 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5174A>C (p.Gln1725Pro) single nucleotide variant Long QT syndrome [RCV001300259] Chr12:2679526 [GRCh38]
Chr12:2788692 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4357G>A (p.Val1453Ile) single nucleotide variant Long QT syndrome [RCV001317155] Chr12:2664949 [GRCh38]
Chr12:2774115 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6382C>A (p.Leu2128Ile) single nucleotide variant Long QT syndrome [RCV001313859] Chr12:2691164 [GRCh38]
Chr12:2800330 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1343A>C (p.Asp448Ala) single nucleotide variant Long QT syndrome [RCV001314363] Chr12:2512937 [GRCh38]
Chr12:2622103 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2690T>A (p.Val897Asp) single nucleotide variant Long QT syndrome [RCV001342622] Chr12:2595900 [GRCh38]
Chr12:2705066 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5077G>A (p.Asp1693Asn) single nucleotide variant Long QT syndrome [RCV001299277] Chr12:2677853 [GRCh38]
Chr12:2787019 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5126A>G (p.Tyr1709Cys) single nucleotide variant Long QT syndrome [RCV001309264] Chr12:2679478 [GRCh38]
Chr12:2788644 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3828+5G>T single nucleotide variant Long QT syndrome [RCV001303394] Chr12:2612018 [GRCh38]
Chr12:2721184 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2693A>G (p.Asn898Ser) single nucleotide variant Long QT syndrome [RCV001317602] Chr12:2595903 [GRCh38]
Chr12:2705069 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4820del (p.Pro1607fs) deletion Brugada syndrome 3 [RCV001332566] Chr12:2674630 [GRCh38]
Chr12:2783796 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.6278C>G (p.Ala2093Gly) single nucleotide variant Long QT syndrome [RCV001294685] Chr12:2691060 [GRCh38]
Chr12:2800226 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5993C>A (p.Thr1998Asn) single nucleotide variant Long QT syndrome [RCV001294725] Chr12:2688655 [GRCh38]
Chr12:2797821 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.941C>T (p.Ser314Phe) single nucleotide variant Long QT syndrome [RCV001320721]|Timothy syndrome [RCV002486276] Chr12:2493214 [GRCh38]
Chr12:2602380 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5680G>A (p.Gly1894Ser) single nucleotide variant Long QT syndrome [RCV001312669]|Timothy syndrome [RCV002476443] Chr12:2685842 [GRCh38]
Chr12:2795008 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4966C>T (p.Arg1656Cys) single nucleotide variant Long QT syndrome [RCV001315231] Chr12:2677742 [GRCh38]
Chr12:2786908 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.92A>G (p.Asn31Ser) single nucleotide variant Long QT syndrome [RCV001325985] Chr12:2115266 [GRCh38]
Chr12:2224432 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6362G>A (p.Gly2121Asp) single nucleotide variant Long QT syndrome [RCV001362295] Chr12:2691144 [GRCh38]
Chr12:2800310 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.6055C>G (p.Pro2019Ala) single nucleotide variant Cardiovascular phenotype [RCV002357274]|Long QT syndrome [RCV001373291] Chr12:2688717 [GRCh38]
Chr12:2797883 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6256G>A (p.Ala2086Thr) single nucleotide variant Long QT syndrome [RCV001324598] Chr12:2691038 [GRCh38]
Chr12:2800204 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1026C>T (p.Gly342=) single nucleotide variant Long QT syndrome [RCV001361450]|Timothy syndrome [RCV002488100] Chr12:2493299 [GRCh38]
Chr12:2602465 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.762C>T (p.Leu254=) single nucleotide variant Long QT syndrome [RCV001423008] Chr12:2486108 [GRCh38]
Chr12:2595274 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2947T>A (p.Ser983Thr) single nucleotide variant Long QT syndrome [RCV001372432] Chr12:2601947 [GRCh38]
Chr12:2711113 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5845C>T (p.Pro1949Ser) single nucleotide variant Long QT syndrome [RCV001326981] Chr12:2688507 [GRCh38]
Chr12:2797673 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.135C>T (p.Thr45=) single nucleotide variant Long QT syndrome [RCV001396534] Chr12:2115309 [GRCh38]
Chr12:2224475 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1540A>G (p.Arg514Gly) single nucleotide variant Concentric hypertrophic cardiomyopathy [RCV001290139] Chr12:2566453 [GRCh38]
Chr12:2675619 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3139G>A (p.Gly1047Arg) single nucleotide variant Long QT syndrome [RCV001305814] Chr12:2605769 [GRCh38]
Chr12:2714935 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5926G>A (p.Gly1976Arg) single nucleotide variant Long QT syndrome [RCV001307677] Chr12:2688588 [GRCh38]
Chr12:2797754 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1345_1371dup (p.Pro449_Asp457dup) duplication Long QT syndrome [RCV001359703] Chr12:2512935..2512936 [GRCh38]
Chr12:2622101..2622102 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4029G>A (p.Gly1343=) single nucleotide variant Long QT syndrome [RCV001413595] Chr12:2651723 [GRCh38]
Chr12:2760889 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1786G>A (p.Val596Met) single nucleotide variant Cardiovascular phenotype [RCV002411987]|Long QT syndrome [RCV001307826]|Timothy syndrome [RCV002486203] Chr12:2567685 [GRCh38]
Chr12:2676851 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6315G>A (p.Gln2105=) single nucleotide variant Long QT syndrome [RCV001413779] Chr12:2691097 [GRCh38]
Chr12:2800263 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1670-9G>T single nucleotide variant Long QT syndrome [RCV001397048] Chr12:2567560 [GRCh38]
Chr12:2676726 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5412G>A (p.Val1804=) single nucleotide variant not provided [RCV001310629] Chr12:2679764 [GRCh38]
Chr12:2788930 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2440G>T (p.Glu814Ter) single nucleotide variant Long QT syndrome [RCV001371222] Chr12:2585476 [GRCh38]
Chr12:2694642 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3732C>T (p.Ser1244=) single nucleotide variant Long QT syndrome [RCV001421845] Chr12:2611917 [GRCh38]
Chr12:2721083 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2208C>T (p.Leu736=) single nucleotide variant Long QT syndrome [RCV001433972] Chr12:2582926 [GRCh38]
Chr12:2692092 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5920C>T (p.Leu1974Phe) single nucleotide variant Long QT syndrome [RCV001325995] Chr12:2688582 [GRCh38]
Chr12:2797748 [GRCh37]
Chr12:12p13.33
benign|uncertain significance
NM_000719.7(CACNA1C):c.5363T>C (p.Val1788Ala) single nucleotide variant Long QT syndrome [RCV001351711] Chr12:2679715 [GRCh38]
Chr12:2788881 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1509-1G>A single nucleotide variant Long QT syndrome [RCV001371906] Chr12:2566421 [GRCh38]
Chr12:2675587 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6018C>A (p.Ser2006Arg) single nucleotide variant Long QT syndrome [RCV001349988]|Timothy syndrome [RCV002504559] Chr12:2688680 [GRCh38]
Chr12:2797846 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4526+9C>G single nucleotide variant Long QT syndrome [RCV001397626] Chr12:2665717 [GRCh38]
Chr12:2774883 [GRCh37]
Chr12:12p13.33
likely benign
NC_000012.11:g.(?_2757621)_(2800385_?)dup duplication Long QT syndrome [RCV001295079] Chr12:2757621..2800385 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2224380)_(2800375_?)dup duplication Long QT syndrome [RCV001373939] Chr12:2224380..2800375 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6025C>T (p.Arg2009Trp) single nucleotide variant Long QT syndrome [RCV001323826] Chr12:2688687 [GRCh38]
Chr12:2797853 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1057A>G (p.Met353Val) single nucleotide variant Long QT syndrome [RCV001364638] Chr12:2493330 [GRCh38]
Chr12:2602496 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2339+5C>A single nucleotide variant Cardiovascular phenotype [RCV002456562]|Long QT syndrome [RCV001364639] Chr12:2584622 [GRCh38]
Chr12:2693788 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.580G>A (p.Gly194Ser) single nucleotide variant Long QT syndrome [RCV001315438] Chr12:2449078 [GRCh38]
Chr12:2558244 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5939G>A (p.Ser1980Asn) single nucleotide variant Long QT syndrome [RCV001326292] Chr12:2688601 [GRCh38]
Chr12:2797767 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5929G>C (p.Val1977Leu) single nucleotide variant Long QT syndrome [RCV001344721] Chr12:2688591 [GRCh38]
Chr12:2797757 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.694G>C (p.Asp232His) single nucleotide variant Brugada syndrome 3 [RCV001332568]|CACNA1C-Related Disorder [RCV002245967] Chr12:2457643 [GRCh38]
Chr12:2566809 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5739C>A (p.Asp1913Glu) single nucleotide variant Long QT syndrome [RCV001303375] Chr12:2686224 [GRCh38]
Chr12:2795390 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5567C>G (p.Thr1856Arg) single nucleotide variant Long QT syndrome [RCV001351848] Chr12:2682672 [GRCh38]
Chr12:2791838 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1175G>T (p.Gly392Val) single nucleotide variant Long QT syndrome [RCV001337674] Chr12:2504903 [GRCh38]
Chr12:2614069 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2954G>T (p.Gly985Val) single nucleotide variant Long QT syndrome [RCV001323899] Chr12:2601954 [GRCh38]
Chr12:2711120 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2993G>A (p.Arg998Gln) single nucleotide variant Long QT syndrome [RCV001323910] Chr12:2605113 [GRCh38]
Chr12:2714279 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5681G>A (p.Gly1894Asp) single nucleotide variant Long QT syndrome [RCV001346667] Chr12:2686166 [GRCh38]
Chr12:2795332 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3912C>T (p.Asn1304=) single nucleotide variant Cardiovascular phenotype [RCV002377552]|Long QT syndrome [RCV001371268] Chr12:2634380 [GRCh38]
Chr12:2743546 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5038G>A (p.Asp1680Asn) single nucleotide variant Long QT syndrome [RCV001364893] Chr12:2677814 [GRCh38]
Chr12:2786980 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6336G>C (p.Glu2112Asp) single nucleotide variant Long QT syndrome [RCV001364921] Chr12:2691118 [GRCh38]
Chr12:2800284 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3976A>G (p.Thr1326Ala) single nucleotide variant Long QT syndrome [RCV001322974] Chr12:2651670 [GRCh38]
Chr12:2760836 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2103+5G>A single nucleotide variant Long QT syndrome [RCV001322986] Chr12:2581802 [GRCh38]
Chr12:2690968 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5325G>A (p.Leu1775=) single nucleotide variant Cardiovascular phenotype [RCV003294300]|Long QT syndrome [RCV001325426] Chr12:2679677 [GRCh38]
Chr12:2788843 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4879T>A (p.Tyr1627Asn) single nucleotide variant Long QT syndrome [RCV001298029] Chr12:2677144 [GRCh38]
Chr12:2786310 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3499G>A (p.Val1167Ile) single nucleotide variant Long QT syndrome [RCV001318737]|not provided [RCV002070147] Chr12:2608653 [GRCh38]
Chr12:2717819 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1516T>G (p.Trp506Gly) single nucleotide variant Cardiovascular phenotype [RCV002395695]|Long QT syndrome [RCV001320210]|not provided [RCV001355329] Chr12:2566429 [GRCh38]
Chr12:2675595 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4997G>A (p.Arg1666Gln) single nucleotide variant Long QT syndrome [RCV001300365] Chr12:2677773 [GRCh38]
Chr12:2786939 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5927G>A (p.Gly1976Glu) single nucleotide variant Long QT syndrome [RCV001323170] Chr12:2688589 [GRCh38]
Chr12:2797755 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5417A>G (p.Glu1806Gly) single nucleotide variant Long QT syndrome [RCV001372672] Chr12:2679769 [GRCh38]
Chr12:2788935 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2162719)_(2666153_?)dup duplication Long QT syndrome [RCV001322410] Chr12:2162719..2666153 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2558141)_(2800365_?)dup duplication Long QT syndrome [RCV001322411] Chr12:2558141..2800365 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2800056)_(2800375_?)dup duplication Long QT syndrome [RCV001308062] Chr12:2800056..2800375 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3764A>G (p.Asn1255Ser) single nucleotide variant Long QT syndrome [RCV001347829] Chr12:2611949 [GRCh38]
Chr12:2721115 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2530+5C>T single nucleotide variant Long QT syndrome [RCV001327097] Chr12:2585909 [GRCh38]
Chr12:2695075 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1501A>G (p.Lys501Glu) single nucleotide variant Long QT syndrome [RCV001341533] Chr12:2556970 [GRCh38]
Chr12:2666136 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6100A>T (p.Ser2034Cys) single nucleotide variant Long QT syndrome [RCV001321136] Chr12:2688762 [GRCh38]
Chr12:2797928 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.50G>C (p.Gly17Ala) single nucleotide variant Long QT syndrome [RCV001321176] Chr12:2115224 [GRCh38]
Chr12:2224390 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3357-7_3357-5del microsatellite Long QT syndrome [RCV001350117] Chr12:2608499..2608501 [GRCh38]
Chr12:2717665..2717667 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.6185A>T (p.Glu2062Val) single nucleotide variant Long QT syndrome [RCV001315234] Chr12:2690967 [GRCh38]
Chr12:2800133 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5423C>G (p.Ala1808Gly) single nucleotide variant Long QT syndrome [RCV001298755] Chr12:2679775 [GRCh38]
Chr12:2788941 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2593C>G (p.Leu865Val) single nucleotide variant Long QT syndrome [RCV001323680] Chr12:2593275 [GRCh38]
Chr12:2702441 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.142dup (p.Ala48fs) duplication Long QT syndrome [RCV001325169] Chr12:2115311..2115312 [GRCh38]
Chr12:2224477..2224478 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4918G>A (p.Val1640Met) single nucleotide variant Long QT syndrome [RCV001368430] Chr12:2677183 [GRCh38]
Chr12:2786349 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4290G>C (p.Lys1430Asn) single nucleotide variant Long QT syndrome [RCV001314444] Chr12:2664882 [GRCh38]
Chr12:2774048 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5771T>C (p.Leu1924Pro) single nucleotide variant Long QT syndrome [RCV001297355] Chr12:2686256 [GRCh38]
Chr12:2795422 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6356C>A (p.Ala2119Glu) single nucleotide variant Long QT syndrome [RCV001370039] Chr12:2691138 [GRCh38]
Chr12:2800304 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1723A>T (p.Met575Leu) single nucleotide variant Cardiovascular phenotype [RCV003298589]|Long QT syndrome [RCV001366387] Chr12:2567622 [GRCh38]
Chr12:2676788 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5906T>C (p.Val1969Ala) single nucleotide variant Cardiovascular phenotype [RCV002357215]|Long QT syndrome [RCV001359434] Chr12:2688568 [GRCh38]
Chr12:2797734 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.284C>A (p.Thr95Asn) single nucleotide variant Long QT syndrome [RCV001366638] Chr12:2115458 [GRCh38]
Chr12:2224624 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5445-586_5445-584delinsTGG indel not provided [RCV001812621] Chr12:2681964..2681966 [GRCh38]
Chr12:2791130..2791132 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.6091G>A (p.Gly2031Ser) single nucleotide variant Cardiovascular phenotype [RCV002357095]|Long QT syndrome [RCV001299756]|Timothy syndrome [RCV002499556] Chr12:2688753 [GRCh38]
Chr12:2797919 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4436T>C (p.Phe1479Ser) single nucleotide variant Timothy syndrome [RCV001281073] Chr12:2665618 [GRCh38]
Chr12:2774784 [GRCh37]
Chr12:12p13.33
pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.5387C>T (p.Pro1796Leu) single nucleotide variant Cardiovascular phenotype [RCV002350700]|Long QT syndrome [RCV001368042] Chr12:2679739 [GRCh38]
Chr12:2788905 [GRCh37]
Chr12:12p13.33
benign|likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5404A>G (p.Ile1802Val) single nucleotide variant Long QT syndrome [RCV001367164] Chr12:2679756 [GRCh38]
Chr12:2788922 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5808C>G (p.Ser1936Arg) single nucleotide variant Cardiovascular phenotype [RCV002357253]|Long QT syndrome [RCV001368736] Chr12:2688470 [GRCh38]
Chr12:2797636 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1068G>A (p.Val356=) single nucleotide variant Long QT syndrome [RCV001421292] Chr12:2493341 [GRCh38]
Chr12:2602507 [GRCh37]
Chr12:12p13.33
likely benign
NC_000012.11:g.(?_2162719)_(2229606_?)dup duplication Long QT syndrome [RCV001338284] Chr12:2162719..2229606 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5692T>C (p.Ser1898Pro) single nucleotide variant Long QT syndrome [RCV001338799] Chr12:2686177 [GRCh38]
Chr12:2795343 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1333G>C (p.Glu445Gln) single nucleotide variant Long QT syndrome [RCV001367477] Chr12:2512927 [GRCh38]
Chr12:2622093 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4804G>A (p.Asp1602Asn) single nucleotide variant Long QT syndrome [RCV001298200] Chr12:2674618 [GRCh38]
Chr12:2783784 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4941C>G (p.Asn1647Lys) single nucleotide variant Long QT syndrome [RCV001307761] Chr12:2677206 [GRCh38]
Chr12:2786372 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4574A>C (p.Gln1525Pro) single nucleotide variant Long QT syndrome [RCV001371981] Chr12:2666733 [GRCh38]
Chr12:2775899 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5922T>C (p.Leu1974=) single nucleotide variant Cardiovascular phenotype [RCV002359105]|Long QT syndrome [RCV001494181] Chr12:2688584 [GRCh38]
Chr12:2797750 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1244C>T (p.Ala415Val) single nucleotide variant Long QT syndrome [RCV001349227] Chr12:2512838 [GRCh38]
Chr12:2622004 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3995G>A (p.Arg1332Gln) single nucleotide variant Inborn genetic diseases [RCV002547717]|Long QT syndrome [RCV001359392]|not provided [RCV002260703] Chr12:2651689 [GRCh38]
Chr12:2760855 [GRCh37]
Chr12:12p13.33
pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.3097G>A (p.Val1033Met) single nucleotide variant Long QT syndrome [RCV001317099]|Timothy syndrome [RCV002486250] Chr12:2605727 [GRCh38]
Chr12:2714893 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6104G>A (p.Ser2035Asn) single nucleotide variant Long QT syndrome [RCV001326107] Chr12:2688766 [GRCh38]
Chr12:2797932 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.101C>A (p.Ala34Glu) single nucleotide variant Long QT syndrome [RCV001298823] Chr12:2115275 [GRCh38]
Chr12:2224441 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5858C>T (p.Ala1953Val) single nucleotide variant Long QT syndrome [RCV001314352] Chr12:2688520 [GRCh38]
Chr12:2797686 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5455C>T (p.Arg1819Trp) single nucleotide variant Long QT syndrome [RCV001359657] Chr12:2682560 [GRCh38]
Chr12:2791726 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2460+1G>A single nucleotide variant Long QT syndrome [RCV001366037] Chr12:2585497 [GRCh38]
Chr12:2694663 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2571T>C (p.Pro857=) single nucleotide variant Long QT syndrome [RCV001474917] Chr12:2593253 [GRCh38]
Chr12:2702419 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6243C>T (p.Ile2081=) single nucleotide variant Long QT syndrome [RCV001424634]|not provided [RCV001647291] Chr12:2691025 [GRCh38]
Chr12:2800191 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.747C>T (p.Ser249=) single nucleotide variant Long QT syndrome [RCV001404558] Chr12:2457696 [GRCh38]
Chr12:2566862 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4890G>A (p.Lys1630=) single nucleotide variant Cardiovascular phenotype [RCV002342041]|Long QT syndrome [RCV001464328] Chr12:2677155 [GRCh38]
Chr12:2786321 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1227C>T (p.Ser409=) single nucleotide variant Cardiovascular phenotype [RCV002368485]|Long QT syndrome [RCV001484130] Chr12:2512821 [GRCh38]
Chr12:2621987 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1114-294A>G single nucleotide variant Long QT syndrome [RCV001475207] Chr12:2504548 [GRCh38]
Chr12:2613714 [GRCh37]
Chr12:12p13.33
likely benign
NM_001167623.2(CACNA1C):c.1203C>T (p.Leu401=) single nucleotide variant Long QT syndrome [RCV001458331] Chr12:2504525 [GRCh38]
Chr12:2613691 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.360T>C (p.Ile120=) single nucleotide variant Long QT syndrome [RCV001470386] Chr12:2115534 [GRCh38]
Chr12:2224700 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3678C>T (p.Phe1226=) single nucleotide variant Cardiovascular phenotype [RCV002458501]|Long QT syndrome [RCV001520489] Chr12:2610660 [GRCh38]
Chr12:2719826 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.1452C>T (p.Ile484=) single nucleotide variant Cardiovascular phenotype [RCV002396057]|Long QT syndrome [RCV001454290] Chr12:2550004 [GRCh38]
Chr12:2659170 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5184G>A (p.Leu1728=) single nucleotide variant Long QT syndrome [RCV001496423] Chr12:2679536 [GRCh38]
Chr12:2788702 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.198C>T (p.Gly66=) single nucleotide variant Long QT syndrome [RCV001451879] Chr12:2115372 [GRCh38]
Chr12:2224538 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5445-10G>A single nucleotide variant Long QT syndrome [RCV001452180]|not provided [RCV001597274] Chr12:2682540 [GRCh38]
Chr12:2791706 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.69A>C (p.Pro23=) single nucleotide variant Long QT syndrome [RCV001452332] Chr12:2115243 [GRCh38]
Chr12:2224409 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.123G>A (p.Glu41=) single nucleotide variant Cardiovascular phenotype [RCV002384836]|Long QT syndrome [RCV001499999] Chr12:2115297 [GRCh38]
Chr12:2224463 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4983C>T (p.Ile1661=) single nucleotide variant Cardiovascular phenotype [RCV002343688]|Long QT syndrome [RCV001502934] Chr12:2677759 [GRCh38]
Chr12:2786925 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4881C>T (p.Tyr1627=) single nucleotide variant Long QT syndrome [RCV001475682] Chr12:2677146 [GRCh38]
Chr12:2786312 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6105C>T (p.Ser2035=) single nucleotide variant Long QT syndrome [RCV001452711] Chr12:2688767 [GRCh38]
Chr12:2797933 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.621T>C (p.Leu207=) single nucleotide variant Long QT syndrome [RCV001489140] Chr12:2457570 [GRCh38]
Chr12:2566736 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4797G>A (p.Lys1599=) single nucleotide variant Long QT syndrome [RCV001463628] Chr12:2674611 [GRCh38]
Chr12:2783777 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5862C>G (p.Thr1954=) single nucleotide variant Long QT syndrome [RCV001469969] Chr12:2688524 [GRCh38]
Chr12:2797690 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4527-6T>C single nucleotide variant Long QT syndrome [RCV001487228] Chr12:2666680 [GRCh38]
Chr12:2775846 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6054G>A (p.Val2018=) single nucleotide variant Long QT syndrome [RCV001468472] Chr12:2688716 [GRCh38]
Chr12:2797882 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2481G>A (p.Gln827=) single nucleotide variant Cardiovascular phenotype [RCV002432107]|Long QT syndrome [RCV001401140] Chr12:2585855 [GRCh38]
Chr12:2695021 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5092-5T>C single nucleotide variant Long QT syndrome [RCV001481270]|not provided [RCV001565644] Chr12:2679439 [GRCh38]
Chr12:2788605 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.477+116797C>T single nucleotide variant Long QT syndrome [RCV001518457] Chr12:2237227 [GRCh38]
Chr12:2346393 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2238T>C (p.Asn746=) single nucleotide variant Long QT syndrome [RCV001470657] Chr12:2584516 [GRCh38]
Chr12:2693682 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5535G>A (p.Thr1845=) single nucleotide variant Long QT syndrome [RCV001480811] Chr12:2682640 [GRCh38]
Chr12:2791806 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1905C>T (p.Asn635=) single nucleotide variant Long QT syndrome [RCV001498508] Chr12:2581599 [GRCh38]
Chr12:2690765 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4920G>A (p.Val1640=) single nucleotide variant Cardiovascular phenotype [RCV002350998]|Long QT syndrome [RCV001484641] Chr12:2677185 [GRCh38]
Chr12:2786351 [GRCh37]
Chr12:12p13.33
likely benign
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_000719.7(CACNA1C):c.5293G>A (p.Ala1765Thr) single nucleotide variant Long QT syndrome [RCV001478629] Chr12:2679645 [GRCh38]
Chr12:2788811 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2531-7C>T single nucleotide variant Long QT syndrome [RCV001460292] Chr12:2593206 [GRCh38]
Chr12:2702372 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.30T>C (p.Ile10=) single nucleotide variant Long QT syndrome [RCV001411990] Chr12:2053592 [GRCh38]
Chr12:2162758 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5322C>G (p.Ala1774=) single nucleotide variant Long QT syndrome [RCV001409369] Chr12:2679674 [GRCh38]
Chr12:2788840 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4078C>T (p.Leu1360=) single nucleotide variant Cardiovascular phenotype [RCV002322480]|Long QT syndrome [RCV001446076] Chr12:2653838 [GRCh38]
Chr12:2763004 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.758-7C>T single nucleotide variant Long QT syndrome [RCV001409630] Chr12:2486097 [GRCh38]
Chr12:2595263 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5092-4A>G single nucleotide variant Long QT syndrome [RCV001399845] Chr12:2679440 [GRCh38]
Chr12:2788606 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5265G>A (p.Pro1755=) single nucleotide variant Cardiovascular phenotype [RCV003160789]|Long QT syndrome [RCV001443915] Chr12:2679617 [GRCh38]
Chr12:2788783 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4624-8G>T single nucleotide variant Long QT syndrome [RCV001409882] Chr12:2668925 [GRCh38]
Chr12:2778091 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1893G>A (p.Thr631=) single nucleotide variant Cardiovascular phenotype [RCV003160757]|Long QT syndrome [RCV001438676] Chr12:2567792 [GRCh38]
Chr12:2676958 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5247G>A (p.Val1749=) single nucleotide variant Long QT syndrome [RCV001443726] Chr12:2679599 [GRCh38]
Chr12:2788765 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5928G>A (p.Gly1976=) single nucleotide variant Long QT syndrome [RCV001430675] Chr12:2688590 [GRCh38]
Chr12:2797756 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3489C>T (p.Gly1163=) single nucleotide variant Cardiovascular phenotype [RCV002341936]|Long QT syndrome [RCV001430701] Chr12:2608643 [GRCh38]
Chr12:2717809 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4215C>T (p.Ala1405=) single nucleotide variant Cardiovascular phenotype [RCV002329502]|Long QT syndrome [RCV001444089] Chr12:2655221 [GRCh38]
Chr12:2764387 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6030A>G (p.Arg2010=) single nucleotide variant Cardiovascular phenotype [RCV003170044]|Long QT syndrome [RCV001409974] Chr12:2688692 [GRCh38]
Chr12:2797858 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1863C>T (p.Cys621=) single nucleotide variant Cardiovascular phenotype [RCV002413942]|Long QT syndrome [RCV001397934] Chr12:2567762 [GRCh38]
Chr12:2676928 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3356+8T>C single nucleotide variant Long QT syndrome [RCV001439729] Chr12:2607138 [GRCh38]
Chr12:2716304 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1578C>T (p.Phe526=) single nucleotide variant Long QT syndrome [RCV001444057] Chr12:2566491 [GRCh38]
Chr12:2675657 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4623+9_4623+10del deletion Long QT syndrome [RCV001436028] Chr12:2666790..2666791 [GRCh38]
Chr12:2775956..2775957 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.733C>T (p.Leu245=) single nucleotide variant Long QT syndrome [RCV001418150] Chr12:2457682 [GRCh38]
Chr12:2566848 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1614G>A (p.Thr538=) single nucleotide variant Cardiovascular phenotype [RCV002395910]|Long QT syndrome [RCV001402733] Chr12:2566527 [GRCh38]
Chr12:2675693 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3576C>T (p.Tyr1192=) single nucleotide variant Cardiovascular phenotype [RCV002456704]|Long QT syndrome [RCV001429107] Chr12:2610558 [GRCh38]
Chr12:2719724 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1056C>T (p.Ala352=) single nucleotide variant Long QT syndrome [RCV001407935] Chr12:2493329 [GRCh38]
Chr12:2602495 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1167C>T (p.Ile389=) single nucleotide variant Long QT syndrome [RCV001407937] Chr12:2504895 [GRCh38]
Chr12:2614061 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4692C>T (p.Ala1564=) single nucleotide variant Long QT syndrome [RCV001444628] Chr12:2669001 [GRCh38]
Chr12:2778167 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3168C>T (p.Tyr1056=) single nucleotide variant Long QT syndrome [RCV001410641] Chr12:2606622 [GRCh38]
Chr12:2715788 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.944C>T (p.Pro315Leu) single nucleotide variant not provided [RCV001542075] Chr12:2493217 [GRCh38]
Chr12:2602383 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2853+216A>G single nucleotide variant Long QT syndrome [RCV001419091] Chr12:2597505 [GRCh38]
Chr12:2706671 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6118-9C>A single nucleotide variant Long QT syndrome [RCV001444747] Chr12:2690891 [GRCh38]
Chr12:2800057 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4488G>A (p.Glu1496=) single nucleotide variant Long QT syndrome [RCV001403932] Chr12:2665670 [GRCh38]
Chr12:2774836 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4842C>T (p.Thr1614=) single nucleotide variant Cardiovascular phenotype [RCV002341967]|Long QT syndrome [RCV001440374] Chr12:2677107 [GRCh38]
Chr12:2786273 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2715G>T (p.Leu905=) single nucleotide variant Long QT syndrome [RCV001408331] Chr12:2595925 [GRCh38]
Chr12:2705091 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4986G>T (p.Gly1662=) single nucleotide variant Long QT syndrome [RCV001408392] Chr12:2677762 [GRCh38]
Chr12:2786928 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4887G>A (p.Arg1629=) single nucleotide variant Long QT syndrome [RCV001402583] Chr12:2677152 [GRCh38]
Chr12:2786318 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2362C>G (p.Gln788Glu) single nucleotide variant Long QT syndrome [RCV001428282] Chr12:2585398 [GRCh38]
Chr12:2694564 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6009G>A (p.Gly2003=) single nucleotide variant Long QT syndrome [RCV001442445] Chr12:2688671 [GRCh38]
Chr12:2797837 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2339+10T>G single nucleotide variant Long QT syndrome [RCV001411002] Chr12:2584627 [GRCh38]
Chr12:2693793 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5145G>C (p.Arg1715=) single nucleotide variant Long QT syndrome [RCV001411043] Chr12:2679497 [GRCh38]
Chr12:2788663 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.813C>T (p.Ile271=) single nucleotide variant Cardiovascular phenotype [RCV003284328]|Long QT syndrome [RCV001438931] Chr12:2486159 [GRCh38]
Chr12:2595325 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5346C>G (p.Ala1782=) single nucleotide variant Cardiovascular phenotype [RCV002350791]|Long QT syndrome [RCV001411386] Chr12:2679698 [GRCh38]
Chr12:2788864 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2854-337A>G single nucleotide variant not provided [RCV001535005] Chr12:2601517 [GRCh38]
Chr12:2710683 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4020G>C (p.Leu1340=) single nucleotide variant Long QT syndrome [RCV001427290] Chr12:2651714 [GRCh38]
Chr12:2760880 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6034C>A (p.Arg2012=) single nucleotide variant Long QT syndrome [RCV001431728] Chr12:2688696 [GRCh38]
Chr12:2797862 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1689G>C (p.Leu563=) single nucleotide variant Long QT syndrome [RCV001445365]|not specified [RCV003235575] Chr12:2567588 [GRCh38]
Chr12:2676754 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4233-4C>T single nucleotide variant Cardiovascular phenotype [RCV002329510]|Long QT syndrome [RCV001447985] Chr12:2664821 [GRCh38]
Chr12:2773987 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1203C>T (p.Leu401=) single nucleotide variant Long QT syndrome [RCV001404069] Chr12:2504931 [GRCh38]
Chr12:2614097 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4440C>T (p.Asp1480=) single nucleotide variant Cardiovascular phenotype [RCV002329442]|Long QT syndrome [RCV001409084] Chr12:2665622 [GRCh38]
Chr12:2774788 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2853+8C>A single nucleotide variant Long QT syndrome [RCV001419985] Chr12:2597297 [GRCh38]
Chr12:2706463 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1114-410C>A single nucleotide variant Long QT syndrome [RCV001406790]|not provided [RCV001713086] Chr12:2504432 [GRCh38]
Chr12:2613598 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.-77del deletion not provided [RCV001645174] Chr12:2053485 [GRCh38]
Chr12:2162651 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1218-210C>T single nucleotide variant not provided [RCV001675345] Chr12:2512602 [GRCh38]
Chr12:2621768 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1064C>T (p.Thr355Met) single nucleotide variant CACNA1C-related condition [RCV003399264]|not provided [RCV001508686] Chr12:2493337 [GRCh38]
Chr12:2602503 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.129C>T (p.Ile43=) single nucleotide variant Long QT syndrome [RCV001468651] Chr12:2115303 [GRCh38]
Chr12:2224469 [GRCh37]
Chr12:12p13.33
likely benign
NM_001167623.2(CACNA1C):c.1215C>T (p.Ser405=) single nucleotide variant Long QT syndrome [RCV001472988] Chr12:2504537 [GRCh38]
Chr12:2613703 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4410C>G (p.Leu1470=) single nucleotide variant Long QT syndrome [RCV001454363] Chr12:2665592 [GRCh38]
Chr12:2774758 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.105A>G (p.Ala35=) single nucleotide variant Long QT syndrome [RCV001457936] Chr12:2115279 [GRCh38]
Chr12:2224445 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1683G>A (p.Lys561=) single nucleotide variant Long QT syndrome [RCV001457643] Chr12:2567582 [GRCh38]
Chr12:2676748 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.672C>A (p.Leu224=) single nucleotide variant Long QT syndrome [RCV001469431] Chr12:2457621 [GRCh38]
Chr12:2566787 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3829-86del deletion not provided [RCV001716122] Chr12:2634195 [GRCh38]
Chr12:2743361 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4074+10C>T single nucleotide variant Long QT syndrome [RCV001486839] Chr12:2651778 [GRCh38]
Chr12:2760944 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5202C>G (p.Gly1734=) single nucleotide variant Cardiovascular phenotype [RCV003160903]|Long QT syndrome [RCV001469676] Chr12:2679554 [GRCh38]
Chr12:2788720 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4893C>T (p.Phe1631=) single nucleotide variant Long QT syndrome [RCV001462485] Chr12:2677158 [GRCh38]
Chr12:2786324 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5091+189A>C single nucleotide variant not provided [RCV001680324] Chr12:2678056 [GRCh38]
Chr12:2787222 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3829-717_3829-714del microsatellite not provided [RCV001589525] Chr12:2633575..2633578 [GRCh38]
Chr12:2742741..2742744 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2853+9C>G single nucleotide variant Long QT syndrome [RCV001477203] Chr12:2597298 [GRCh38]
Chr12:2706464 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3846A>C (p.Ala1282=) single nucleotide variant Long QT syndrome [RCV001487765] Chr12:2634314 [GRCh38]
Chr12:2743480 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5444+825A>G single nucleotide variant not provided [RCV001614537] Chr12:2680621 [GRCh38]
Chr12:2789787 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5444+774T>C single nucleotide variant not provided [RCV001618779] Chr12:2680570 [GRCh38]
Chr12:2789736 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3951A>G (p.Ala1317=) single nucleotide variant Cardiovascular phenotype [RCV002377801]|Long QT syndrome [RCV001470615] Chr12:2651645 [GRCh38]
Chr12:2760811 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5091+14T>C single nucleotide variant Long QT syndrome [RCV002538601]|not provided [RCV001680709] Chr12:2677881 [GRCh38]
Chr12:2787047 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.4075-159C>T single nucleotide variant not provided [RCV001590082] Chr12:2653676 [GRCh38]
Chr12:2762842 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4857C>T (p.Tyr1619=) single nucleotide variant Cardiovascular phenotype [RCV003298903]|Long QT syndrome [RCV001504477]|Timothy syndrome [RCV002506583] Chr12:2677122 [GRCh38]
Chr12:2786288 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3912+189del deletion not provided [RCV001680826] Chr12:2634557 [GRCh38]
Chr12:2743723 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5680+115dup duplication not provided [RCV001687931] Chr12:2685953..2685954 [GRCh38]
Chr12:2795119..2795120 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.5092-40C>T single nucleotide variant not provided [RCV001592023] Chr12:2679404 [GRCh38]
Chr12:2788570 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2697C>T (p.Asp899=) single nucleotide variant Long QT syndrome [RCV001498196] Chr12:2595907 [GRCh38]
Chr12:2705073 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4141-229C>T single nucleotide variant not provided [RCV001583177] Chr12:2654918 [GRCh38]
Chr12:2764084 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3050A>G (p.His1017Arg) single nucleotide variant not provided [RCV001699956] Chr12:2605680 [GRCh38]
Chr12:2714846 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5444+827C>G single nucleotide variant not provided [RCV001714475] Chr12:2680623 [GRCh38]
Chr12:2789789 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.852C>T (p.Ile284=) single nucleotide variant Long QT syndrome [RCV001501735] Chr12:2486198 [GRCh38]
Chr12:2595364 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.917-185A>G single nucleotide variant not provided [RCV001610124] Chr12:2493005 [GRCh38]
Chr12:2602171 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.2853+217C>T single nucleotide variant Long QT syndrome [RCV001472663] Chr12:2597506 [GRCh38]
Chr12:2706672 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1938C>T (p.Asn646=) single nucleotide variant Long QT syndrome [RCV001399431] Chr12:2581632 [GRCh38]
Chr12:2690798 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4017G>A (p.Leu1339=) single nucleotide variant Long QT syndrome [RCV001424971] Chr12:2651711 [GRCh38]
Chr12:2760877 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5415G>A (p.Gln1805=) single nucleotide variant Long QT syndrome [RCV001482686] Chr12:2679767 [GRCh38]
Chr12:2788933 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1434C>T (p.Asn478=) single nucleotide variant Cardiovascular phenotype [RCV002396113]|Long QT syndrome [RCV001469637] Chr12:2549986 [GRCh38]
Chr12:2659152 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3393C>T (p.Asp1131=) single nucleotide variant Long QT syndrome [RCV001458393] Chr12:2608547 [GRCh38]
Chr12:2717713 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1217+10A>C single nucleotide variant Long QT syndrome [RCV001503100] Chr12:2504955 [GRCh38]
Chr12:2614121 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4083C>T (p.Pro1361=) single nucleotide variant Long QT syndrome [RCV001450908] Chr12:2653843 [GRCh38]
Chr12:2763009 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3483C>T (p.Phe1161=) single nucleotide variant Cardiovascular phenotype [RCV002456894]|Long QT syndrome [RCV001497934] Chr12:2608637 [GRCh38]
Chr12:2717803 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5785-9T>C single nucleotide variant Long QT syndrome [RCV001483013] Chr12:2688438 [GRCh38]
Chr12:2797604 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5343C>T (p.Pro1781=) single nucleotide variant Cardiovascular phenotype [RCV002343705]|Long QT syndrome [RCV001523060] Chr12:2679695 [GRCh38]
Chr12:2788861 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.285C>T (p.Thr95=) single nucleotide variant Cardiovascular phenotype [RCV002439189]|Long QT syndrome [RCV001496147]|Timothy syndrome [RCV002501705] Chr12:2115459 [GRCh38]
Chr12:2224625 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3903C>G (p.Thr1301=) single nucleotide variant Long QT syndrome [RCV001481669] Chr12:2634371 [GRCh38]
Chr12:2743537 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2112C>T (p.Thr704=) single nucleotide variant Long QT syndrome [RCV001488450] Chr12:2582830 [GRCh38]
Chr12:2691996 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3558+9C>T single nucleotide variant Long QT syndrome [RCV001496245] Chr12:2608721 [GRCh38]
Chr12:2717887 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5688G>A (p.Arg1896=) single nucleotide variant Cardiovascular phenotype [RCV002343677]|Long QT syndrome [RCV001498779] Chr12:2686173 [GRCh38]
Chr12:2795339 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.153G>T (p.Ser51=) single nucleotide variant Cardiovascular phenotype [RCV003160836]|Long QT syndrome [RCV001454166] Chr12:2115327 [GRCh38]
Chr12:2224493 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3294T>C (p.Phe1098=) single nucleotide variant Long QT syndrome [RCV001457743] Chr12:2607068 [GRCh38]
Chr12:2716234 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1023C>T (p.His341=) single nucleotide variant Cardiovascular phenotype [RCV002377805]|Long QT syndrome [RCV001471488] Chr12:2493296 [GRCh38]
Chr12:2602462 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2794-5T>C single nucleotide variant Cardiovascular phenotype [RCV002439192]|Long QT syndrome [RCV001497541] Chr12:2597225 [GRCh38]
Chr12:2706391 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2854-5T>G single nucleotide variant Long QT syndrome [RCV001484932] Chr12:2601849 [GRCh38]
Chr12:2711015 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1035C>T (p.Asn345=) single nucleotide variant Long QT syndrome [RCV001398041] Chr12:2493308 [GRCh38]
Chr12:2602474 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1669+8G>A single nucleotide variant Long QT syndrome [RCV001423365] Chr12:2566590 [GRCh38]
Chr12:2675756 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1717C>T (p.Leu573=) single nucleotide variant Long QT syndrome [RCV001399840] Chr12:2567616 [GRCh38]
Chr12:2676782 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2055G>A (p.Arg685=) single nucleotide variant Long QT syndrome [RCV001425348] Chr12:2581749 [GRCh38]
Chr12:2690915 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4074+9C>G single nucleotide variant Long QT syndrome [RCV001427899] Chr12:2651777 [GRCh38]
Chr12:2760943 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1818G>A (p.Val606=) single nucleotide variant Long QT syndrome [RCV001407138] Chr12:2567717 [GRCh38]
Chr12:2676883 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.477+119988G>C single nucleotide variant Long QT syndrome [RCV001511447] Chr12:2240418 [GRCh38]
Chr12:2349584 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3342C>T (p.Phe1114=) single nucleotide variant Long QT syndrome [RCV001452088] Chr12:2607116 [GRCh38]
Chr12:2716282 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1179A>G (p.Ser393=) single nucleotide variant Long QT syndrome [RCV001466434] Chr12:2504907 [GRCh38]
Chr12:2614073 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4224C>T (p.Leu1408=) single nucleotide variant Long QT syndrome [RCV001400697] Chr12:2655230 [GRCh38]
Chr12:2764396 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2368T>C (p.Leu790=) single nucleotide variant Cardiovascular phenotype [RCV002449131]|Long QT syndrome [RCV001416552] Chr12:2585404 [GRCh38]
Chr12:2694570 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.916+21C>T single nucleotide variant not provided [RCV001538540] Chr12:2486283 [GRCh38]
Chr12:2595449 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1470G>A (p.Gly490=) single nucleotide variant Long QT syndrome [RCV001426215] Chr12:2550022 [GRCh38]
Chr12:2659188 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4233-5T>G single nucleotide variant Long QT syndrome [RCV001418510] Chr12:2664820 [GRCh38]
Chr12:2773986 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2757T>C (p.Ala919=) single nucleotide variant Long QT syndrome [RCV001401337] Chr12:2595967 [GRCh38]
Chr12:2705133 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1686C>G (p.Ala562=) single nucleotide variant Long QT syndrome [RCV001418612] Chr12:2567585 [GRCh38]
Chr12:2676751 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.864G>A (p.Glu288=) single nucleotide variant Long QT syndrome [RCV001424654]|not provided [RCV003394046] Chr12:2486210 [GRCh38]
Chr12:2595376 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1413C>T (p.Thr471=) single nucleotide variant Long QT syndrome [RCV001505797] Chr12:2549965 [GRCh38]
Chr12:2659131 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5787A>C (p.Ala1929=) single nucleotide variant Long QT syndrome [RCV001472524] Chr12:2688449 [GRCh38]
Chr12:2797615 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1895+7G>C single nucleotide variant Long QT syndrome [RCV001456652] Chr12:2567801 [GRCh38]
Chr12:2676967 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1753G>T (p.Val585Leu) single nucleotide variant not provided [RCV002245106] Chr12:2567652 [GRCh38]
Chr12:2676818 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1480G>T (p.Ala494Ser) single nucleotide variant Autism spectrum disorder [RCV003128039] Chr12:2550032 [GRCh38]
Chr12:2659198 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.358A>G (p.Ile120Val) single nucleotide variant See cases [RCV002252821] Chr12:2115532 [GRCh38]
Chr12:2224698 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2224+19C>T single nucleotide variant Long QT syndrome [RCV003109050] Chr12:2582961 [GRCh38]
Chr12:2692127 [GRCh37]
Chr12:12p13.33
likely benign
NC_000012.12:g.2044152_2088870del deletion Motor delay [RCV000853498] Chr12:2153318..2198036 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly) single nucleotide variant Timothy syndrome [RCV002249324] Chr12:2567752 [GRCh38]
Chr12:2676918 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.2664-7C>T single nucleotide variant Long QT syndrome [RCV002073426]|not provided [RCV001730397]|not specified [RCV001730398] Chr12:2595867 [GRCh38]
Chr12:2705033 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.3866T>G (p.Leu1289Trp) single nucleotide variant Timothy syndrome [RCV002273183] Chr12:2634334 [GRCh38]
Chr12:2743500 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2530+4C>T single nucleotide variant Timothy syndrome type 1 [RCV002273335] Chr12:2585908 [GRCh38]
Chr12:2695074 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_001167623.2(CACNA1C):c.1160G>C (p.Ser387Thr) single nucleotide variant not provided [RCV001768963] Chr12:2504482 [GRCh38]
Chr12:2613648 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3503C>A (p.Thr1168Asn) single nucleotide variant not provided [RCV001762969] Chr12:2608657 [GRCh38]
Chr12:2717823 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.1217+12C>G single nucleotide variant Long QT syndrome [RCV002104378] Chr12:2504957 [GRCh38]
Chr12:2614123 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.478-10_478-5del deletion See cases [RCV002252837] Chr12:2448962..2448967 [GRCh38]
Chr12:2558128..2558133 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2650A>C (p.Ser884Arg) single nucleotide variant not provided [RCV001758305] Chr12:2593332 [GRCh38]
Chr12:2702498 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_001167623.2(CACNA1C):c.1207G>A (p.Val403Met) single nucleotide variant not provided [RCV001756470] Chr12:2504529 [GRCh38]
Chr12:2613695 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.5444+584T>G single nucleotide variant Timothy syndrome [RCV001785232] Chr12:2680380 [GRCh38]
Chr12:2789546 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1381C>G (p.Pro461Ala) single nucleotide variant Timothy syndrome [RCV002503186]|not provided [RCV001754173] Chr12:2512975 [GRCh38]
Chr12:2622141 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV001764133] Chr12:2053563 [GRCh38]
Chr12:2162729 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.37G>A (p.Glu13Lys) single nucleotide variant not provided [RCV001763222] Chr12:2053599 [GRCh38]
Chr12:2162765 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2663+1G>A single nucleotide variant not provided [RCV001758083] Chr12:2593346 [GRCh38]
Chr12:2702512 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3484G>C (p.Val1162Leu) single nucleotide variant not provided [RCV001752295] Chr12:2608638 [GRCh38]
Chr12:2717804 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2302G>A (p.Glu768Lys) single nucleotide variant not provided [RCV001754694] Chr12:2584580 [GRCh38]
Chr12:2693746 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.617+1G>A single nucleotide variant not provided [RCV001773857] Chr12:2449116 [GRCh38]
Chr12:2558282 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5044G>A (p.Ala1682Thr) single nucleotide variant Long QT syndrome [RCV001868484]|not provided [RCV001767656] Chr12:2677820 [GRCh38]
Chr12:2786986 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4862C>T (p.Thr1621Met) single nucleotide variant not provided [RCV001767804] Chr12:2677127 [GRCh38]
Chr12:2786293 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5098G>C (p.Gly1700Arg) single nucleotide variant Long qt syndrome 8 [RCV002471146]|not provided [RCV001765606] Chr12:2679450 [GRCh38]
Chr12:2788616 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3265C>T (p.Arg1089Cys) single nucleotide variant not provided [RCV001767827] Chr12:2607039 [GRCh38]
Chr12:2716205 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5350_5386del (p.Tyr1784fs) deletion not provided [RCV001774248] Chr12:2679699..2679735 [GRCh38]
Chr12:2788865..2788901 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3001C>T (p.Arg1001Ter) single nucleotide variant not provided [RCV001754369] Chr12:2605121 [GRCh38]
Chr12:2714287 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.362T>C (p.Val121Ala) single nucleotide variant not provided [RCV001786160] Chr12:2115536 [GRCh38]
Chr12:2224702 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_000719.7(CACNA1C):c.239_244delinsTTGCAGCTCC (p.Gln80fs) indel not provided [RCV001751988] Chr12:2115413..2115418 [GRCh38]
Chr12:2224579..2224584 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.970C>T (p.Arg324Trp) single nucleotide variant Long qt syndrome 8 [RCV002290750]|not provided [RCV001773211] Chr12:2493243 [GRCh38]
Chr12:2602409 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.230G>T (p.Ser77Ile) single nucleotide variant not provided [RCV001765038] Chr12:2115404 [GRCh38]
Chr12:2224570 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala) single nucleotide variant not provided [RCV001800107]|not specified [RCV003230696] Chr12:2593251 [GRCh38]
Chr12:2702417 [GRCh37]
Chr12:12p13.33
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala) single nucleotide variant Timothy syndrome [RCV002246476]|not provided [RCV001765427] Chr12:2608654 [GRCh38]
Chr12:2717820 [GRCh37]
Chr12:12p13.33
pathogenic|likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.2390G>C (p.Gly797Ala) single nucleotide variant not provided [RCV001770867] Chr12:2585426 [GRCh38]
Chr12:2694592 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.620T>G (p.Leu207Arg) single nucleotide variant not provided [RCV001771488] Chr12:2457569 [GRCh38]
Chr12:2566735 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5299A>G (p.Ile1767Val) single nucleotide variant not provided [RCV001771510] Chr12:2679651 [GRCh38]
Chr12:2788817 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2448A>C (p.Pro816=) single nucleotide variant not provided [RCV001779648] Chr12:2585484 [GRCh38]
Chr12:2694650 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5091+1G>A single nucleotide variant not provided [RCV001771086] Chr12:2677868 [GRCh38]
Chr12:2787034 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5109C>G (p.Phe1703Leu) single nucleotide variant Timothy syndrome [RCV001771829] Chr12:2679461 [GRCh38]
Chr12:2788627 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.496T>C (p.Phe166Leu) single nucleotide variant Neurodevelopmental delay [RCV001785375] Chr12:2448994 [GRCh38]
Chr12:2558160 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.4087G>T (p.Val1363Leu) single nucleotide variant Timothy syndrome [RCV001788505] Chr12:2653847 [GRCh38]
Chr12:2763013 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.4837G>T (p.Val1613Phe) single nucleotide variant Long QT syndrome [RCV002001480] Chr12:2677102 [GRCh38]
Chr12:2786268 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2854-11C>G single nucleotide variant Brugada syndrome 3 [RCV001733516]|not provided [RCV002477909] Chr12:2601843 [GRCh38]
Chr12:2711009 [GRCh37]
Chr12:12p13.33
uncertain significance|no classifications from unflagged records
NM_000719.7(CACNA1C):c.1274G>A (p.Arg425Gln) single nucleotide variant not provided [RCV001794635] Chr12:2512868 [GRCh38]
Chr12:2622034 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2124G>A (p.Trp708Ter) single nucleotide variant not provided [RCV001756981] Chr12:2582842 [GRCh38]
Chr12:2692008 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5444+680A>G single nucleotide variant not provided [RCV001754276] Chr12:2680476 [GRCh38]
Chr12:2789642 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2451del (p.Ala818fs) deletion Timothy syndrome [RCV001809305] Chr12:2585485 [GRCh38]
Chr12:2694651 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.5445-496G>A single nucleotide variant Timothy syndrome [RCV001809306] Chr12:2682054 [GRCh38]
Chr12:2791220 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1390A>G (p.Met464Val) single nucleotide variant Long QT syndrome [RCV001915324] Chr12:2512984 [GRCh38]
Chr12:2622150 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3048G>A (p.Lys1016=) single nucleotide variant Long QT syndrome [RCV001891096] Chr12:2605168 [GRCh38]
Chr12:2714334 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5875C>T (p.Pro1959Ser) single nucleotide variant Long QT syndrome [RCV001872868] Chr12:2688537 [GRCh38]
Chr12:2797703 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5419G>A (p.Val1807Met) single nucleotide variant Long QT syndrome [RCV001896911] Chr12:2679771 [GRCh38]
Chr12:2788937 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6397G>T (p.Val2133Phe) single nucleotide variant Long QT syndrome [RCV002009064] Chr12:2691179 [GRCh38]
Chr12:2800345 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5065GCT[1] (p.Ala1690del) microsatellite Cardiovascular phenotype [RCV002334773]|Long QT syndrome [RCV001864442]|See cases [RCV002252714] Chr12:2677841..2677843 [GRCh38]
Chr12:2787007..2787009 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2797_2798del (p.Leu933fs) deletion Long QT syndrome [RCV001864639] Chr12:2597232..2597233 [GRCh38]
Chr12:2706398..2706399 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_001167623.2(CACNA1C):c.1213A>G (p.Ser405Gly) single nucleotide variant Seizure [RCV001849839] Chr12:2504535 [GRCh38]
Chr12:2613701 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.6209C>T (p.Thr2070Ile) single nucleotide variant Long QT syndrome [RCV001874942] Chr12:2690991 [GRCh38]
Chr12:2800157 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5330G>A (p.Arg1777His) single nucleotide variant Cardiovascular phenotype [RCV002344025]|Long QT syndrome [RCV001945197]|not specified [RCV003479369] Chr12:2679682 [GRCh38]
Chr12:2788848 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2664G>A (p.Arg888=) single nucleotide variant Long QT syndrome [RCV001950059] Chr12:2595874 [GRCh38]
Chr12:2705040 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6035G>A (p.Arg2012Gln) single nucleotide variant Long QT syndrome [RCV001874680] Chr12:2688697 [GRCh38]
Chr12:2797863 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4558C>G (p.Leu1520Val) single nucleotide variant Long QT syndrome [RCV002025460]|Timothy syndrome [RCV002492234] Chr12:2666717 [GRCh38]
Chr12:2775883 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5779C>G (p.His1927Asp) single nucleotide variant Long QT syndrome [RCV001988346] Chr12:2686264 [GRCh38]
Chr12:2795430 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4943C>T (p.Ala1648Val) single nucleotide variant Long QT syndrome [RCV001969031] Chr12:2677208 [GRCh38]
Chr12:2786374 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5525A>G (p.Asn1842Ser) single nucleotide variant Long QT syndrome [RCV002007836] Chr12:2682630 [GRCh38]
Chr12:2791796 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5048T>C (p.Met1683Thr) single nucleotide variant Long QT syndrome [RCV001929482] Chr12:2677824 [GRCh38]
Chr12:2786990 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.164C>A (p.Ala55Asp) single nucleotide variant Long QT syndrome [RCV001913399] Chr12:2115338 [GRCh38]
Chr12:2224504 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5380C>T (p.His1794Tyr) single nucleotide variant Long QT syndrome [RCV001914200] Chr12:2679732 [GRCh38]
Chr12:2788898 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.513G>A (p.Thr171=) single nucleotide variant Cardiovascular phenotype [RCV002343940]|Long QT syndrome [RCV001872689] Chr12:2449011 [GRCh38]
Chr12:2558177 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.6224A>C (p.Glu2075Ala) single nucleotide variant Long QT syndrome [RCV002023866] Chr12:2691006 [GRCh38]
Chr12:2800172 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.583T>C (p.Trp195Arg) single nucleotide variant Timothy syndrome [RCV001842260] Chr12:2449081 [GRCh38]
Chr12:2558247 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4793T>C (p.Met1598Thr) single nucleotide variant Long QT syndrome [RCV001947954] Chr12:2674607 [GRCh38]
Chr12:2783773 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5932G>A (p.Glu1978Lys) single nucleotide variant Cardiovascular phenotype [RCV002352609]|Long QT syndrome [RCV001967560] Chr12:2688594 [GRCh38]
Chr12:2797760 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2429C>T (p.Thr810Met) single nucleotide variant Cardiovascular phenotype [RCV002449569]|Long QT syndrome [RCV001910200]|Timothy syndrome [RCV002507023] Chr12:2585465 [GRCh38]
Chr12:2694631 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3311C>G (p.Ala1104Gly) single nucleotide variant Long QT syndrome [RCV002006872] Chr12:2607085 [GRCh38]
Chr12:2716251 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4581A>G (p.Pro1527=) single nucleotide variant Cardiovascular phenotype [RCV002334835]|Long QT syndrome [RCV001891744] Chr12:2666740 [GRCh38]
Chr12:2775906 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1138T>G (p.Trp380Gly) single nucleotide variant not provided [RCV001837696] Chr12:2504866 [GRCh38]
Chr12:2614032 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.168C>G (p.Ile56Met) single nucleotide variant Long QT syndrome [RCV001871267] Chr12:2115342 [GRCh38]
Chr12:2224508 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
NM_000719.7(CACNA1C):c.901C>G (p.Gln301Glu) single nucleotide variant Cardiovascular phenotype [RCV002370632]|Long QT syndrome [RCV002005027] Chr12:2486247 [GRCh38]
Chr12:2595413 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.991G>A (p.Val331Met) single nucleotide variant Long QT syndrome [RCV001926753] Chr12:2493264 [GRCh38]
Chr12:2602430 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4279C>G (p.Pro1427Ala) single nucleotide variant Long QT syndrome [RCV001871011]|not provided [RCV003481151] Chr12:2664871 [GRCh38]
Chr12:2774037 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
NM_000719.7(CACNA1C):c.356G>A (p.Ser119Asn) single nucleotide variant Long QT syndrome [RCV002024295] Chr12:2115530 [GRCh38]
Chr12:2224696 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3663C>G (p.Phe1221Leu) single nucleotide variant Long QT syndrome [RCV002007793] Chr12:2610645 [GRCh38]
Chr12:2719811 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3946-13C>T single nucleotide variant Long QT syndrome [RCV001947048] Chr12:2651627 [GRCh38]
Chr12:2760793 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5047A>G (p.Met1683Val) single nucleotide variant Long QT syndrome [RCV001863398] Chr12:2677823 [GRCh38]
Chr12:2786989 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.662C>G (p.Ala221Gly) single nucleotide variant Long QT syndrome [RCV002024126] Chr12:2457611 [GRCh38]
Chr12:2566777 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3140G>C (p.Gly1047Ala) single nucleotide variant Long QT syndrome [RCV001910441] Chr12:2605770 [GRCh38]
Chr12:2714936 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5728C>G (p.Arg1910Gly) single nucleotide variant Long QT syndrome [RCV001889778] Chr12:2686213 [GRCh38]
Chr12:2795379 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33(chr12:2019715-2674054) copy number gain not specified [RCV002052962] Chr12:2019715..2674054 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3262C>G (p.Pro1088Ala) single nucleotide variant Long QT syndrome [RCV001948162] Chr12:2607036 [GRCh38]
Chr12:2716202 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6320G>T (p.Arg2107Leu) single nucleotide variant Long QT syndrome [RCV001985556] Chr12:2691102 [GRCh38]
Chr12:2800268 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3590G>A (p.Arg1197Gln) single nucleotide variant Long QT syndrome [RCV001873075] Chr12:2610572 [GRCh38]
Chr12:2719738 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5091+4G>C single nucleotide variant Long QT syndrome [RCV002039496] Chr12:2677871 [GRCh38]
Chr12:2787037 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5264C>T (p.Pro1755Leu) single nucleotide variant Long QT syndrome [RCV002044458] Chr12:2679616 [GRCh38]
Chr12:2788782 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4966C>A (p.Arg1656Ser) single nucleotide variant Long QT syndrome [RCV001986438] Chr12:2677742 [GRCh38]
Chr12:2786908 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5917C>T (p.Arg1973Trp) single nucleotide variant Cardiovascular phenotype [RCV002359321]|Long QT syndrome [RCV001870858] Chr12:2688579 [GRCh38]
Chr12:2797745 [GRCh37]
Chr12:12p13.33
benign|uncertain significance
NM_000719.7(CACNA1C):c.6102C>A (p.Ser2034Arg) single nucleotide variant Long QT syndrome [RCV002003388] Chr12:2688764 [GRCh38]
Chr12:2797930 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6332_6333del (p.Glu2111fs) deletion Long QT syndrome [RCV001926548] Chr12:2691114..2691115 [GRCh38]
Chr12:2800280..2800281 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4726+8C>T single nucleotide variant Long QT syndrome [RCV001968357] Chr12:2669043 [GRCh38]
Chr12:2778209 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3718-3C>T single nucleotide variant Cardiovascular phenotype [RCV002344074]|Long QT syndrome [RCV001948414] Chr12:2611900 [GRCh38]
Chr12:2721066 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700) copy number loss not specified [RCV002052963] Chr12:2790077..5325700 [GRCh37]
Chr12:12p13.33-13.32
pathogenic
NM_000719.7(CACNA1C):c.5893C>T (p.Pro1965Ser) single nucleotide variant Long QT syndrome [RCV001966009] Chr12:2688555 [GRCh38]
Chr12:2797721 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6253G>A (p.Gly2085Ser) single nucleotide variant Long QT syndrome [RCV001890252] Chr12:2691035 [GRCh38]
Chr12:2800201 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1769G>A (p.Arg590His) single nucleotide variant Long QT syndrome [RCV001891488] Chr12:2567668 [GRCh38]
Chr12:2676834 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.313C>T (p.Leu105Phe) single nucleotide variant Long QT syndrome [RCV001938803] Chr12:2115487 [GRCh38]
Chr12:2224653 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2606A>G (p.Glu869Gly) single nucleotide variant Long QT syndrome [RCV001973928] Chr12:2593288 [GRCh38]
Chr12:2702454 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6154G>A (p.Asp2052Asn) single nucleotide variant Cardiovascular phenotype [RCV002352689]|Long QT syndrome [RCV001973959] Chr12:2690936 [GRCh38]
Chr12:2800102 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.574C>T (p.Arg192Cys) single nucleotide variant Long QT syndrome [RCV001953015] Chr12:2449072 [GRCh38]
Chr12:2558238 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1599G>A (p.Leu533=) single nucleotide variant Cardiovascular phenotype [RCV002398021]|Long QT syndrome [RCV001997767] Chr12:2566512 [GRCh38]
Chr12:2675678 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1367T>G (p.Met456Arg) single nucleotide variant Long QT syndrome [RCV002017748] Chr12:2512961 [GRCh38]
Chr12:2622127 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_1949885)_(2229616_?)dup duplication not provided [RCV001962502] Chr12:1949885..2229616 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6087C>G (p.Phe2029Leu) single nucleotide variant Long QT syndrome [RCV001963408] Chr12:2688749 [GRCh38]
Chr12:2797915 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5978_5992del (p.Gly1993_Thr1998delinsAla) deletion Long QT syndrome [RCV002036889] Chr12:2688640..2688654 [GRCh38]
Chr12:2797806..2797820 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2162729)_(2229616_?)del deletion Long QT syndrome [RCV001981849] Chr12:2162729..2229616 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2103+20G>A single nucleotide variant Long QT syndrome [RCV001941360] Chr12:2581817 [GRCh38]
Chr12:2690983 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4967G>A (p.Arg1656His) single nucleotide variant Long QT syndrome [RCV001879115] Chr12:2677743 [GRCh38]
Chr12:2786909 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3552G>T (p.Lys1184Asn) single nucleotide variant Long QT syndrome [RCV001876700] Chr12:2608706 [GRCh38]
Chr12:2717872 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6364_6372del (p.Arg2122_Ser2124del) deletion Long QT syndrome [RCV002033211] Chr12:2691144..2691152 [GRCh38]
Chr12:2800310..2800318 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5716C>T (p.Arg1906Ter) single nucleotide variant Long QT syndrome [RCV001940736] Chr12:2686201 [GRCh38]
Chr12:2795367 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2663+4T>G single nucleotide variant Long QT syndrome [RCV001888681] Chr12:2593349 [GRCh38]
Chr12:2702515 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4949C>G (p.Ser1650Cys) single nucleotide variant Long QT syndrome [RCV001886832] Chr12:2677214 [GRCh38]
Chr12:2786380 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5413C>G (p.Gln1805Glu) single nucleotide variant Long QT syndrome [RCV001879536] Chr12:2679765 [GRCh38]
Chr12:2788931 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5987C>T (p.Ala1996Val) single nucleotide variant Long QT syndrome [RCV002036833]|Timothy syndrome [RCV002493991] Chr12:2688649 [GRCh38]
Chr12:2797815 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5252C>G (p.Ser1751Cys) single nucleotide variant Long QT syndrome [RCV001931929] Chr12:2679604 [GRCh38]
Chr12:2788770 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5529T>G (p.His1843Gln) single nucleotide variant Long QT syndrome [RCV001888340] Chr12:2682634 [GRCh38]
Chr12:2791800 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5344G>C (p.Ala1782Pro) single nucleotide variant Long QT syndrome [RCV001885893] Chr12:2679696 [GRCh38]
Chr12:2788862 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5852C>G (p.Pro1951Arg) single nucleotide variant Long QT syndrome [RCV001981936]|Timothy syndrome [RCV002479488] Chr12:2688514 [GRCh38]
Chr12:2797680 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.520G>C (p.Ala174Pro) single nucleotide variant Long QT syndrome [RCV001886566] Chr12:2449018 [GRCh38]
Chr12:2558184 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3080G>A (p.Arg1027Gln) single nucleotide variant Long QT syndrome [RCV001943764] Chr12:2605710 [GRCh38]
Chr12:2714876 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2446C>T (p.Pro816Ser) single nucleotide variant Cardiovascular phenotype [RCV002458787]|Long QT syndrome [RCV001925998] Chr12:2585482 [GRCh38]
Chr12:2694648 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1171A>C (p.Ile391Leu) single nucleotide variant Long QT syndrome [RCV001957520] Chr12:2504899 [GRCh38]
Chr12:2614065 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4784G>A (p.Arg1595Gln) single nucleotide variant Long QT syndrome [RCV002011555]|Timothy syndrome [RCV003330105] Chr12:2674598 [GRCh38]
Chr12:2783764 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2885G>A (p.Gly962Asp) single nucleotide variant Long QT syndrome [RCV001934812] Chr12:2601885 [GRCh38]
Chr12:2711051 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2794882)_(2800365_?)dup duplication Long QT syndrome [RCV002014323] Chr12:2794882..2800365 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3748G>T (p.Ala1250Ser) single nucleotide variant Long QT syndrome [RCV001903033]|not provided [RCV002300619] Chr12:2611933 [GRCh38]
Chr12:2721099 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5270G>A (p.Ser1757Asn) single nucleotide variant Long QT syndrome [RCV002015532] Chr12:2679622 [GRCh38]
Chr12:2788788 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4500C>A (p.Ile1500=) single nucleotide variant Cardiovascular phenotype [RCV002331537]|Long QT syndrome [RCV001975182]|not provided [RCV003395323] Chr12:2665682 [GRCh38]
Chr12:2774848 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.268A>C (p.Lys90Gln) single nucleotide variant Long QT syndrome [RCV001989759] Chr12:2115442 [GRCh38]
Chr12:2224608 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4970C>A (p.Thr1657Lys) single nucleotide variant Long QT syndrome [RCV001957590] Chr12:2677746 [GRCh38]
Chr12:2786912 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2558122)_(2566892_?)dup duplication Long QT syndrome [RCV002014322] Chr12:2558122..2566892 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5889C>T (p.Gly1963=) single nucleotide variant Long QT syndrome [RCV001991119] Chr12:2688551 [GRCh38]
Chr12:2797717 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1302C>G (p.Leu434=) single nucleotide variant Long QT syndrome [RCV001954284] Chr12:2512896 [GRCh38]
Chr12:2622062 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4511A>G (p.Tyr1504Cys) single nucleotide variant Long QT syndrome [RCV001878923] Chr12:2665693 [GRCh38]
Chr12:2774859 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4074+6C>T single nucleotide variant Long QT syndrome [RCV001881071]|Long qt syndrome 8 [RCV002471175]|not provided [RCV002225946] Chr12:2651774 [GRCh38]
Chr12:2760940 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5917C>G (p.Arg1973Gly) single nucleotide variant Long QT syndrome [RCV001936434] Chr12:2688579 [GRCh38]
Chr12:2797745 [GRCh37]
Chr12:12p13.33
benign|uncertain significance
NM_000719.7(CACNA1C):c.1384C>T (p.Arg462Ter) single nucleotide variant Long QT syndrome [RCV001972966] Chr12:2512978 [GRCh38]
Chr12:2622144 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5612T>G (p.Leu1871Arg) single nucleotide variant Long QT syndrome [RCV002033531] Chr12:2685774 [GRCh38]
Chr12:2794940 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6169G>A (p.Glu2057Lys) single nucleotide variant Long QT syndrome [RCV001954521] Chr12:2690951 [GRCh38]
Chr12:2800117 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1229A>G (p.Lys410Arg) single nucleotide variant Long QT syndrome [RCV001881172] Chr12:2512823 [GRCh38]
Chr12:2621989 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1624G>T (p.Ala542Ser) single nucleotide variant Long QT syndrome [RCV001989062] Chr12:2566537 [GRCh38]
Chr12:2675703 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2572C>T (p.Arg858Cys) single nucleotide variant Long QT syndrome [RCV001933180] Chr12:2593254 [GRCh38]
Chr12:2702420 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2408A>C (p.Lys803Thr) single nucleotide variant Long QT syndrome [RCV001957939] Chr12:2585444 [GRCh38]
Chr12:2694610 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5320G>A (p.Ala1774Thr) single nucleotide variant Cardiovascular phenotype [RCV002346259]|Long QT syndrome [RCV001989222] Chr12:2679672 [GRCh38]
Chr12:2788838 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2460+5G>C single nucleotide variant Long QT syndrome [RCV001990552] Chr12:2585501 [GRCh38]
Chr12:2694667 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2339+9C>G single nucleotide variant Long QT syndrome [RCV001936128] Chr12:2584626 [GRCh38]
Chr12:2693792 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2558132)_(2800365_?)dup duplication Long QT syndrome [RCV001916139] Chr12:2558132..2800365 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5460G>C (p.Glu1820Asp) single nucleotide variant Long QT syndrome [RCV002011321] Chr12:2682565 [GRCh38]
Chr12:2791731 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2162729)_(2800365_?)dup duplication Long QT syndrome [RCV001916137] Chr12:2162729..2800365 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5693C>T (p.Ser1898Phe) single nucleotide variant Long QT syndrome [RCV001881421] Chr12:2686178 [GRCh38]
Chr12:2795344 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4381A>G (p.Met1461Val) single nucleotide variant Cardiovascular phenotype [RCV002331358]|Long QT syndrome [RCV001866923]|Timothy syndrome [RCV002503385] Chr12:2664973 [GRCh38]
Chr12:2774139 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.62G>C (p.Gly21Ala) single nucleotide variant Long QT syndrome [RCV001973759] Chr12:2115236 [GRCh38]
Chr12:2224402 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.241C>T (p.Arg81Trp) single nucleotide variant Long QT syndrome [RCV002013917] Chr12:2115415 [GRCh38]
Chr12:2224581 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2339+6C>T single nucleotide variant Long QT syndrome [RCV002046511] Chr12:2584623 [GRCh38]
Chr12:2693789 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3945+17C>T single nucleotide variant Long QT syndrome [RCV001951485] Chr12:2648524 [GRCh38]
Chr12:2757690 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5992A>G (p.Thr1998Ala) single nucleotide variant Long QT syndrome [RCV002029425] Chr12:2688654 [GRCh38]
Chr12:2797820 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6331G>A (p.Glu2111Lys) single nucleotide variant Long QT syndrome [RCV001981163] Chr12:2691113 [GRCh38]
Chr12:2800279 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.179G>C (p.Arg60Pro) single nucleotide variant Long QT syndrome [RCV002027099] Chr12:2115353 [GRCh38]
Chr12:2224519 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.664A>G (p.Asn222Asp) single nucleotide variant Long QT syndrome [RCV001952024] Chr12:2457613 [GRCh38]
Chr12:2566779 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1141C>A (p.Pro381Thr) single nucleotide variant Long QT syndrome [RCV001955887] Chr12:2504869 [GRCh38]
Chr12:2614035 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6251G>A (p.Gly2084Glu) single nucleotide variant Long QT syndrome [RCV001940907] Chr12:2691033 [GRCh38]
Chr12:2800199 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2659099)_(2695080_?)dup duplication Long QT syndrome [RCV001875109] Chr12:2659099..2695080 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4830T>G (p.Asp1610Glu) single nucleotide variant Long QT syndrome [RCV002019615] Chr12:2677095 [GRCh38]
Chr12:2786261 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.914C>G (p.Ala305Gly) single nucleotide variant Long QT syndrome [RCV001952317] Chr12:2486260 [GRCh38]
Chr12:2595426 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1397T>C (p.Met466Thr) single nucleotide variant Long QT syndrome [RCV002029982] Chr12:2549949 [GRCh38]
Chr12:2659115 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2069A>G (p.Asp690Gly) single nucleotide variant Long QT syndrome [RCV001879394] Chr12:2581763 [GRCh38]
Chr12:2690929 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3416G>A (p.Arg1139His) single nucleotide variant Long QT syndrome [RCV001978006] Chr12:2608570 [GRCh38]
Chr12:2717736 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6399C>G (p.Val2133=) single nucleotide variant Long QT syndrome [RCV002033932] Chr12:2691181 [GRCh38]
Chr12:2800347 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5989G>T (p.Glu1997Ter) single nucleotide variant Long QT syndrome [RCV001876871] Chr12:2688651 [GRCh38]
Chr12:2797817 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.161C>T (p.Ala54Val) single nucleotide variant Cardiovascular phenotype [RCV002397800]|Long QT syndrome [RCV001899775] Chr12:2115335 [GRCh38]
Chr12:2224501 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2794882)_(2800365_?)del deletion Long QT syndrome [RCV001934417] Chr12:2794882..2800365 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2506C>T (p.Pro836Ser) single nucleotide variant Cardiovascular phenotype [RCV002425180]|Long QT syndrome [RCV001875356] Chr12:2585880 [GRCh38]
Chr12:2695046 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3534G>T (p.Lys1178Asn) single nucleotide variant Long QT syndrome [RCV001977253] Chr12:2608688 [GRCh38]
Chr12:2717854 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5666G>A (p.Arg1889His) single nucleotide variant Long QT syndrome [RCV001883550] Chr12:2685828 [GRCh38]
Chr12:2794994 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3386C>T (p.Thr1129Met) single nucleotide variant Cardiovascular phenotype [RCV002458934]|Long QT syndrome [RCV002030253] Chr12:2608540 [GRCh38]
Chr12:2717706 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1099G>A (p.Asp367Asn) single nucleotide variant Long QT syndrome [RCV002048866] Chr12:2493372 [GRCh38]
Chr12:2602538 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6212T>C (p.Ile2071Thr) single nucleotide variant Long QT syndrome [RCV001904933] Chr12:2690994 [GRCh38]
Chr12:2800160 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6100A>G (p.Ser2034Gly) single nucleotide variant Long QT syndrome [RCV002017431] Chr12:2688762 [GRCh38]
Chr12:2797928 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6158C>T (p.Pro2053Leu) single nucleotide variant Long QT syndrome [RCV001900003] Chr12:2690940 [GRCh38]
Chr12:2800106 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5687G>A (p.Arg1896Lys) single nucleotide variant Long QT syndrome [RCV002051466] Chr12:2686172 [GRCh38]
Chr12:2795338 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3718-10C>A single nucleotide variant Long QT syndrome [RCV001902552] Chr12:2611893 [GRCh38]
Chr12:2721059 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3002G>A (p.Arg1001Gln) single nucleotide variant Long QT syndrome [RCV001924951] Chr12:2605122 [GRCh38]
Chr12:2714288 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2792A>G (p.His931Arg) single nucleotide variant Long QT syndrome [RCV002026629] Chr12:2596002 [GRCh38]
Chr12:2705168 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5903C>A (p.Pro1968His) single nucleotide variant Cardiovascular phenotype [RCV002352687]|Long QT syndrome [RCV001976462] Chr12:2688565 [GRCh38]
Chr12:2797731 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2563G>A (p.Val855Ile) single nucleotide variant Long QT syndrome [RCV001975455] Chr12:2593245 [GRCh38]
Chr12:2702411 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4901G>A (p.Arg1634His) single nucleotide variant Long QT syndrome [RCV001900623] Chr12:2677166 [GRCh38]
Chr12:2786332 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5180C>T (p.Pro1727Leu) single nucleotide variant Cardiovascular phenotype [RCV002334878]|Long QT syndrome [RCV001923279]|not provided [RCV003326594] Chr12:2679532 [GRCh38]
Chr12:2788698 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5276C>T (p.Ser1759Leu) single nucleotide variant Long QT syndrome [RCV001923760] Chr12:2679628 [GRCh38]
Chr12:2788794 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6329G>T (p.Gly2110Val) single nucleotide variant Cardiovascular phenotype [RCV002361148]|Long QT syndrome [RCV001883470] Chr12:2691111 [GRCh38]
Chr12:2800277 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4653C>G (p.Asn1551Lys) single nucleotide variant Long QT syndrome [RCV002034983] Chr12:2668962 [GRCh38]
Chr12:2778128 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3556C>G (p.Gln1186Glu) single nucleotide variant Cardiovascular phenotype [RCV002458799]|Long QT syndrome [RCV001923447] Chr12:2608710 [GRCh38]
Chr12:2717876 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.971G>A (p.Arg324Gln) single nucleotide variant Inborn genetic diseases [RCV003170069]|Long QT syndrome [RCV001960388] Chr12:2493244 [GRCh38]
Chr12:2602410 [GRCh37]
Chr12:12p13.33
likely pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.5576T>C (p.Leu1859Pro) single nucleotide variant Cardiovascular phenotype [RCV002344014]|Long QT syndrome [RCV001939964] Chr12:2685738 [GRCh38]
Chr12:2794904 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6013A>G (p.Ser2005Gly) single nucleotide variant Long QT syndrome [RCV001999062] Chr12:2688675 [GRCh38]
Chr12:2797841 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2376G>T (p.Glu792Asp) single nucleotide variant Long QT syndrome [RCV001997828] Chr12:2585412 [GRCh38]
Chr12:2694578 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5632G>A (p.Asp1878Asn) single nucleotide variant Long QT syndrome [RCV001998377] Chr12:2685794 [GRCh38]
Chr12:2794960 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6312_6344del (p.Gln2105_Gly2115del) deletion Long QT syndrome [RCV002009513] Chr12:2691085..2691117 [GRCh38]
Chr12:2800251..2800283 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.478-3T>C single nucleotide variant Long QT syndrome [RCV001989934] Chr12:2448973 [GRCh38]
Chr12:2558139 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2045T>C (p.Met682Thr) single nucleotide variant Cardiovascular phenotype [RCV002423250]|Long QT syndrome [RCV002011474] Chr12:2581739 [GRCh38]
Chr12:2690905 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_2800046)_(2800365_?)dup duplication Long QT syndrome [RCV001991946] Chr12:2800046..2800365 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2380C>T (p.Pro794Ser) single nucleotide variant Long QT syndrome [RCV002050615] Chr12:2585416 [GRCh38]
Chr12:2694582 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4577C>T (p.Pro1526Leu) single nucleotide variant Long QT syndrome [RCV001917269] Chr12:2666736 [GRCh38]
Chr12:2775902 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5849G>A (p.Arg1950Lys) single nucleotide variant Long QT syndrome [RCV001899496] Chr12:2688511 [GRCh38]
Chr12:2797677 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5995A>G (p.Thr1999Ala) single nucleotide variant Long QT syndrome [RCV001952514] Chr12:2688657 [GRCh38]
Chr12:2797823 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6231G>A (p.Ala2077=) single nucleotide variant Long QT syndrome [RCV002128524] Chr12:2691013 [GRCh38]
Chr12:2800179 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4140+19C>T single nucleotide variant Long QT syndrome [RCV002148539] Chr12:2653919 [GRCh38]
Chr12:2763085 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1980C>A (p.Leu660=) single nucleotide variant Long QT syndrome [RCV002130077] Chr12:2581674 [GRCh38]
Chr12:2690840 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4080G>A (p.Leu1360=) single nucleotide variant Long QT syndrome [RCV002166088] Chr12:2653840 [GRCh38]
Chr12:2763006 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3324C>A (p.Leu1108=) single nucleotide variant Long QT syndrome [RCV002076397] Chr12:2607098 [GRCh38]
Chr12:2716264 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5994C>G (p.Thr1998=) single nucleotide variant Long QT syndrome [RCV002193062] Chr12:2688656 [GRCh38]
Chr12:2797822 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3210-13C>A single nucleotide variant Long QT syndrome [RCV002088516] Chr12:2606971 [GRCh38]
Chr12:2716137 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.478-10T>C single nucleotide variant Long QT syndrome [RCV002075563] Chr12:2448966 [GRCh38]
Chr12:2558132 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4582C>T (p.Leu1528=) single nucleotide variant Long QT syndrome [RCV002124389] Chr12:2666741 [GRCh38]
Chr12:2775907 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2854-14G>T single nucleotide variant Long QT syndrome [RCV002105403] Chr12:2601840 [GRCh38]
Chr12:2711006 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.741G>C (p.Leu247=) single nucleotide variant Long QT syndrome [RCV002190542] Chr12:2457690 [GRCh38]
Chr12:2566856 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6122dup (p.Leu2041fs) duplication not provided [RCV002224240] Chr12:2690902..2690903 [GRCh38]
Chr12:2800068..2800069 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5220T>G (p.Thr1740=) single nucleotide variant Cardiovascular phenotype [RCV002346470]|Long QT syndrome [RCV002086396] Chr12:2679572 [GRCh38]
Chr12:2788738 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2664-19T>C single nucleotide variant Long QT syndrome [RCV002190743] Chr12:2595855 [GRCh38]
Chr12:2705021 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6282C>G (p.Leu2094=) single nucleotide variant Long QT syndrome [RCV002090695]|Timothy syndrome [RCV002498299] Chr12:2691064 [GRCh38]
Chr12:2800230 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4656C>T (p.Ser1552=) single nucleotide variant Long QT syndrome [RCV002072822] Chr12:2668965 [GRCh38]
Chr12:2778131 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.50-14C>A single nucleotide variant Long QT syndrome [RCV002185212] Chr12:2115210 [GRCh38]
Chr12:2224376 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6118-10G>T single nucleotide variant Long QT syndrome [RCV002185213] Chr12:2690890 [GRCh38]
Chr12:2800056 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4141-11C>A single nucleotide variant Long QT syndrome [RCV002107554] Chr12:2655136 [GRCh38]
Chr12:2764302 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1215C>T (p.Ser405=) single nucleotide variant Cardiovascular phenotype [RCV003161615]|Long QT syndrome [RCV002126085] Chr12:2504943 [GRCh38]
Chr12:2614109 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.2024G>A (p.Gly675Glu) single nucleotide variant not provided [RCV002224525] Chr12:2581718 [GRCh38]
Chr12:2690884 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1597C>T (p.Leu533=) single nucleotide variant Long QT syndrome [RCV002209566] Chr12:2566510 [GRCh38]
Chr12:2675676 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2663+15T>G single nucleotide variant Long QT syndrome [RCV002207623] Chr12:2593360 [GRCh38]
Chr12:2702526 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4102G>T (p.Val1368Leu) single nucleotide variant Long QT syndrome [RCV003093870]|not provided [RCV002223380] Chr12:2653862 [GRCh38]
Chr12:2763028 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5444+20C>T single nucleotide variant Long QT syndrome [RCV002190248] Chr12:2679816 [GRCh38]
Chr12:2788982 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4790G>C (p.Ser1597Thr) single nucleotide variant Inborn genetic diseases [RCV003089179]|not provided [RCV002223585] Chr12:2674604 [GRCh38]
Chr12:2783770 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.603A>C (p.Ile201=) single nucleotide variant Long QT syndrome [RCV002165883] Chr12:2449101 [GRCh38]
Chr12:2558267 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1669+9C>T single nucleotide variant Long QT syndrome [RCV002091431] Chr12:2566591 [GRCh38]
Chr12:2675757 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3087C>T (p.Ile1029=) single nucleotide variant Long QT syndrome [RCV002125311] Chr12:2605717 [GRCh38]
Chr12:2714883 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4446G>C (p.Leu1482=) single nucleotide variant Long QT syndrome [RCV002164810] Chr12:2665628 [GRCh38]
Chr12:2774794 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3912+9A>C single nucleotide variant Long QT syndrome [RCV002085116] Chr12:2634389 [GRCh38]
Chr12:2743555 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3405C>A (p.Ile1135=) single nucleotide variant Long QT syndrome [RCV002087387] Chr12:2608559 [GRCh38]
Chr12:2717725 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4399-20C>T single nucleotide variant Long QT syndrome [RCV002130317] Chr12:2665561 [GRCh38]
Chr12:2774727 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2268G>T (p.Leu756=) single nucleotide variant Long QT syndrome [RCV002112041] Chr12:2584546 [GRCh38]
Chr12:2693712 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn) single nucleotide variant Timothy syndrome [RCV002249323] Chr12:2449093 [GRCh38]
Chr12:2558259 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.916+8G>A single nucleotide variant Long QT syndrome [RCV002089084] Chr12:2486270 [GRCh38]
Chr12:2595436 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.536T>C (p.Ile179Thr) single nucleotide variant Timothy syndrome [RCV002487007]|not provided [RCV002223412] Chr12:2449034 [GRCh38]
Chr12:2558200 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4527-14C>T single nucleotide variant Long QT syndrome [RCV002106725] Chr12:2666672 [GRCh38]
Chr12:2775838 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.477+14C>T single nucleotide variant Long QT syndrome [RCV002104638] Chr12:2120444 [GRCh38]
Chr12:2229610 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3691C>T (p.Leu1231Phe) single nucleotide variant not provided [RCV002224524] Chr12:2610673 [GRCh38]
Chr12:2719839 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3210-19C>A single nucleotide variant Long QT syndrome [RCV002189788] Chr12:2606965 [GRCh38]
Chr12:2716131 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.916+15C>T single nucleotide variant Long QT syndrome [RCV002124924] Chr12:2486277 [GRCh38]
Chr12:2595443 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3752T>C (p.Met1251Thr) single nucleotide variant not provided [RCV002223587] Chr12:2611937 [GRCh38]
Chr12:2721103 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4185G>A (p.Arg1395=) single nucleotide variant Long QT syndrome [RCV002071272] Chr12:2655191 [GRCh38]
Chr12:2764357 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.876G>A (p.Gly292=) single nucleotide variant Long QT syndrome [RCV002167300] Chr12:2486222 [GRCh38]
Chr12:2595388 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5286C>G (p.Gly1762=) single nucleotide variant Long QT syndrome [RCV002189958] Chr12:2679638 [GRCh38]
Chr12:2788804 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1509-13G>C single nucleotide variant Long QT syndrome [RCV002086862] Chr12:2566409 [GRCh38]
Chr12:2675575 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.204T>A (p.Ala68=) single nucleotide variant Long QT syndrome [RCV002167351] Chr12:2115378 [GRCh38]
Chr12:2224544 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.617+11C>T single nucleotide variant Long QT syndrome [RCV002189887] Chr12:2449126 [GRCh38]
Chr12:2558292 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3945+18G>A single nucleotide variant Long QT syndrome [RCV002188931] Chr12:2648525 [GRCh38]
Chr12:2757691 [GRCh37]
Chr12:12p13.33
likely benign
NM_001167623.2(CACNA1C):c.1212G>A (p.Leu404=) single nucleotide variant Long QT syndrome [RCV002091187] Chr12:2504534 [GRCh38]
Chr12:2613700 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3829-9C>T single nucleotide variant Long QT syndrome [RCV002108532] Chr12:2634288 [GRCh38]
Chr12:2743454 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.50-10T>G single nucleotide variant Long QT syndrome [RCV002075085] Chr12:2115214 [GRCh38]
Chr12:2224380 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.757+11C>T single nucleotide variant Long QT syndrome [RCV002205636] Chr12:2457717 [GRCh38]
Chr12:2566883 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3357-16C>A single nucleotide variant Long QT syndrome [RCV002111516] Chr12:2608495 [GRCh38]
Chr12:2717661 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2394A>G (p.Glu798=) single nucleotide variant Long QT syndrome [RCV002104837] Chr12:2585430 [GRCh38]
Chr12:2694596 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1481+13G>A single nucleotide variant Long QT syndrome [RCV002165084] Chr12:2550046 [GRCh38]
Chr12:2659212 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.49+1G>A single nucleotide variant not provided [RCV002224250] Chr12:2053612 [GRCh38]
Chr12:2162778 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2289A>T (p.Thr763=) single nucleotide variant Long QT syndrome [RCV002210648] Chr12:2584567 [GRCh38]
Chr12:2693733 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4957-15C>T single nucleotide variant Long QT syndrome [RCV002074962]|Timothy syndrome [RCV002500113] Chr12:2677718 [GRCh38]
Chr12:2786884 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3628T>C (p.Tyr1210His) single nucleotide variant not provided [RCV002224339] Chr12:2610610 [GRCh38]
Chr12:2719776 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6063G>A (p.Gln2021=) single nucleotide variant Long QT syndrome [RCV002086394] Chr12:2688725 [GRCh38]
Chr12:2797891 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5785-15C>A single nucleotide variant Long QT syndrome [RCV002214764] Chr12:2688432 [GRCh38]
Chr12:2797598 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.969G>A (p.Gly323=) single nucleotide variant Long QT syndrome [RCV002212406] Chr12:2493242 [GRCh38]
Chr12:2602408 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5680+16G>A single nucleotide variant Long QT syndrome [RCV002076777] Chr12:2685858 [GRCh38]
Chr12:2795024 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2277T>C (p.Ala759=) single nucleotide variant Long QT syndrome [RCV002216167] Chr12:2584555 [GRCh38]
Chr12:2693721 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3210-15C>T single nucleotide variant Long QT syndrome [RCV002168775] Chr12:2606969 [GRCh38]
Chr12:2716135 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3829-16G>T single nucleotide variant Long QT syndrome [RCV002078480] Chr12:2634281 [GRCh38]
Chr12:2743447 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3558+20C>A single nucleotide variant Long QT syndrome [RCV002114679] Chr12:2608732 [GRCh38]
Chr12:2717898 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.478-11_478-10del deletion Long QT syndrome [RCV002091123] Chr12:2448964..2448965 [GRCh38]
Chr12:2558130..2558131 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1114-423T>C single nucleotide variant Long QT syndrome [RCV002113355] Chr12:2504419 [GRCh38]
Chr12:2613585 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3570G>T (p.Val1190=) single nucleotide variant Long QT syndrome [RCV002134397] Chr12:2610552 [GRCh38]
Chr12:2719718 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1569T>C (p.Ser523=) single nucleotide variant Long QT syndrome [RCV002197315] Chr12:2566482 [GRCh38]
Chr12:2675648 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3495C>G (p.Val1165=) single nucleotide variant Long QT syndrome [RCV002096829] Chr12:2608649 [GRCh38]
Chr12:2717815 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1476G>A (p.Arg492=) single nucleotide variant Long QT syndrome [RCV002153036] Chr12:2550028 [GRCh38]
Chr12:2659194 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3894A>G (p.Ile1298Met) single nucleotide variant not provided [RCV002223455] Chr12:2634362 [GRCh38]
Chr12:2743528 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2530+19A>C single nucleotide variant Long QT syndrome [RCV002112570] Chr12:2585923 [GRCh38]
Chr12:2695089 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3180C>T (p.Asp1060=) single nucleotide variant Long QT syndrome [RCV002107961] Chr12:2606634 [GRCh38]
Chr12:2715800 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1732C>T (p.Leu578=) single nucleotide variant Long QT syndrome [RCV002171057] Chr12:2567631 [GRCh38]
Chr12:2676797 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2960+15C>T single nucleotide variant Long QT syndrome [RCV002115346] Chr12:2601975 [GRCh38]
Chr12:2711141 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4829-14_4829-8del deletion Long QT syndrome [RCV002078293] Chr12:2677079..2677085 [GRCh38]
Chr12:2786245..2786251 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1116C>A (p.Val372=) single nucleotide variant Long QT syndrome [RCV002131376] Chr12:2504844 [GRCh38]
Chr12:2614010 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1508+16G>A single nucleotide variant Long QT syndrome [RCV002111655] Chr12:2556993 [GRCh38]
Chr12:2666159 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5092-19C>T single nucleotide variant Long QT syndrome [RCV002095714] Chr12:2679425 [GRCh38]
Chr12:2788591 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4399-16G>T single nucleotide variant Long QT syndrome [RCV002170679] Chr12:2665565 [GRCh38]
Chr12:2774731 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3156+20G>C single nucleotide variant Long QT syndrome [RCV002125345] Chr12:2605806 [GRCh38]
Chr12:2714972 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2853+158A>G single nucleotide variant Long QT syndrome [RCV002135224] Chr12:2597447 [GRCh38]
Chr12:2706613 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.5151C>G (p.Ala1717=) single nucleotide variant Long QT syndrome [RCV002194021] Chr12:2679503 [GRCh38]
Chr12:2788669 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2224+18C>A single nucleotide variant Long QT syndrome [RCV002172059] Chr12:2582960 [GRCh38]
Chr12:2692126 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2339+16T>C single nucleotide variant Long QT syndrome [RCV002148711] Chr12:2584633 [GRCh38]
Chr12:2693799 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5092-16T>C single nucleotide variant Long QT syndrome [RCV002115225] Chr12:2679428 [GRCh38]
Chr12:2788594 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1218-20C>T single nucleotide variant Long QT syndrome [RCV002113995] Chr12:2512792 [GRCh38]
Chr12:2621958 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.42C>T (p.Asn14=) single nucleotide variant Long QT syndrome [RCV002135265] Chr12:2053604 [GRCh38]
Chr12:2162770 [GRCh37]
Chr12:12p13.33
likely benign
NM_001167623.2(CACNA1C):c.1186G>A (p.Val396Ile) single nucleotide variant Long QT syndrome [RCV002216330] Chr12:2504508 [GRCh38]
Chr12:2613674 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4828+1G>A single nucleotide variant Cardiovascular phenotype [RCV003308064]|Timothy syndrome [RCV002505884]|not provided [RCV002224236] Chr12:2674643 [GRCh38]
Chr12:2783809 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1390+19C>T single nucleotide variant Long QT syndrome [RCV002116935] Chr12:2513003 [GRCh38]
Chr12:2622169 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1669+7G>T single nucleotide variant Long QT syndrome [RCV002216101] Chr12:2566589 [GRCh38]
Chr12:2675755 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5680+12G>A single nucleotide variant Long QT syndrome [RCV002132226] Chr12:2685854 [GRCh38]
Chr12:2795020 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3138C>T (p.Ile1046=) single nucleotide variant Long QT syndrome [RCV002086062] Chr12:2605768 [GRCh38]
Chr12:2714934 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5785-19A>G single nucleotide variant Long QT syndrome [RCV002133785] Chr12:2688428 [GRCh38]
Chr12:2797594 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2460+10T>C single nucleotide variant Long QT syndrome [RCV002193687] Chr12:2585506 [GRCh38]
Chr12:2694672 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2853+11C>T single nucleotide variant Long QT syndrome [RCV002209369] Chr12:2597300 [GRCh38]
Chr12:2706466 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4743C>G (p.Ala1581=) single nucleotide variant Long QT syndrome [RCV002076090] Chr12:2674557 [GRCh38]
Chr12:2783723 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2225-15A>G single nucleotide variant Long QT syndrome [RCV002112478] Chr12:2584488 [GRCh38]
Chr12:2693654 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4398+18T>G single nucleotide variant Long QT syndrome [RCV002091045] Chr12:2665008 [GRCh38]
Chr12:2774174 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1758C>G (p.Ser586=) single nucleotide variant Long QT syndrome [RCV002129223] Chr12:2567657 [GRCh38]
Chr12:2676823 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2229C>A (p.Ile743=) single nucleotide variant Long QT syndrome [RCV002074708] Chr12:2584507 [GRCh38]
Chr12:2693673 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4761G>T (p.Ala1587=) single nucleotide variant Long QT syndrome [RCV002078882] Chr12:2674575 [GRCh38]
Chr12:2783741 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.309C>T (p.Ala103=) single nucleotide variant Long QT syndrome [RCV002152802] Chr12:2115483 [GRCh38]
Chr12:2224649 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3096C>T (p.Ile1032=) single nucleotide variant Cardiovascular phenotype [RCV002325674]|Long QT syndrome [RCV002126222] Chr12:2605726 [GRCh38]
Chr12:2714892 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6354C>A (p.Arg2118=) single nucleotide variant Long QT syndrome [RCV002188402] Chr12:2691136 [GRCh38]
Chr12:2800302 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3093C>T (p.Asn1031=) single nucleotide variant Long QT syndrome [RCV002165836] Chr12:2605723 [GRCh38]
Chr12:2714889 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1740G>A (p.Leu580=) single nucleotide variant Long QT syndrome [RCV002146332] Chr12:2567639 [GRCh38]
Chr12:2676805 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.117C>G (p.Ala39=) single nucleotide variant Long QT syndrome [RCV002096088] Chr12:2115291 [GRCh38]
Chr12:2224457 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1647C>T (p.Pro549=) single nucleotide variant Long QT syndrome [RCV002151157] Chr12:2566560 [GRCh38]
Chr12:2675726 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1217+13A>G single nucleotide variant Long QT syndrome [RCV002115324] Chr12:2504958 [GRCh38]
Chr12:2614124 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4302G>A (p.Glu1434=) single nucleotide variant Long QT syndrome [RCV002209941] Chr12:2664894 [GRCh38]
Chr12:2774060 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3225G>T (p.Thr1075=) single nucleotide variant Long QT syndrome [RCV002149343] Chr12:2606999 [GRCh38]
Chr12:2716165 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3237G>A (p.Gly1079=) single nucleotide variant Cardiovascular phenotype [RCV002325626]|Long QT syndrome [RCV002115361] Chr12:2607011 [GRCh38]
Chr12:2716177 [GRCh37]
Chr12:12p13.33
benign|likely benign
NM_000719.7(CACNA1C):c.5573+12T>C single nucleotide variant Long QT syndrome [RCV002115362] Chr12:2682690 [GRCh38]
Chr12:2791856 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3717+15G>C single nucleotide variant Long QT syndrome [RCV002174254] Chr12:2610714 [GRCh38]
Chr12:2719880 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3894A>T (p.Ile1298=) single nucleotide variant Long QT syndrome [RCV002079051] Chr12:2634362 [GRCh38]
Chr12:2743528 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5681-20C>T single nucleotide variant Long QT syndrome [RCV002106020] Chr12:2686146 [GRCh38]
Chr12:2795312 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2610G>A (p.Lys870=) single nucleotide variant Long QT syndrome [RCV002187602] Chr12:2593292 [GRCh38]
Chr12:2702458 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.618-4C>G single nucleotide variant Long QT syndrome [RCV002150642] Chr12:2457563 [GRCh38]
Chr12:2566729 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5178C>T (p.Arg1726=) single nucleotide variant Long QT syndrome [RCV002134439] Chr12:2679530 [GRCh38]
Chr12:2788696 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3356+10C>T single nucleotide variant Long QT syndrome [RCV002166542] Chr12:2607140 [GRCh38]
Chr12:2716306 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.69A>G (p.Pro23=) single nucleotide variant Long QT syndrome [RCV002171978] Chr12:2115243 [GRCh38]
Chr12:2224409 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3828+11G>A single nucleotide variant Long QT syndrome [RCV002150757] Chr12:2612024 [GRCh38]
Chr12:2721190 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4657G>A (p.Asp1553Asn) single nucleotide variant not provided [RCV002224301] Chr12:2668966 [GRCh38]
Chr12:2778132 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1114-291G>A single nucleotide variant Long QT syndrome [RCV002172671] Chr12:2504551 [GRCh38]
Chr12:2613717 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3559-12C>T single nucleotide variant Long QT syndrome [RCV002132715] Chr12:2610529 [GRCh38]
Chr12:2719695 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3441C>T (p.Ile1147=) single nucleotide variant Long QT syndrome [RCV002134839] Chr12:2608595 [GRCh38]
Chr12:2717761 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1383C>T (p.Pro461=) single nucleotide variant Long QT syndrome [RCV002193887] Chr12:2512977 [GRCh38]
Chr12:2622143 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5573+8C>T single nucleotide variant Long QT syndrome [RCV002080509] Chr12:2682686 [GRCh38]
Chr12:2791852 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1390+13C>G single nucleotide variant Long QT syndrome [RCV002185512] Chr12:2512997 [GRCh38]
Chr12:2622163 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3159A>G (p.Gly1053=) single nucleotide variant Long QT syndrome [RCV002085270]|Long qt syndrome 8 [RCV002471254] Chr12:2606613 [GRCh38]
Chr12:2715779 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.1482-10del deletion Long QT syndrome [RCV002212452] Chr12:2556937 [GRCh38]
Chr12:2666103 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.1768C>T (p.Arg590Cys) single nucleotide variant Cardiovascular phenotype [RCV002400395]|Long QT syndrome [RCV003089172]|not provided [RCV002224484] Chr12:2567667 [GRCh38]
Chr12:2676833 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2224+20C>A single nucleotide variant Long QT syndrome [RCV002089237] Chr12:2582962 [GRCh38]
Chr12:2692128 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5757C>T (p.Val1919=) single nucleotide variant Long QT syndrome [RCV002159680] Chr12:2686242 [GRCh38]
Chr12:2795408 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5352C>T (p.Tyr1784=) single nucleotide variant Long QT syndrome [RCV002218346] Chr12:2679704 [GRCh38]
Chr12:2788870 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6369G>A (p.Pro2123=) single nucleotide variant Long QT syndrome [RCV002139001] Chr12:2691151 [GRCh38]
Chr12:2800317 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2949C>T (p.Ser983=) single nucleotide variant Long QT syndrome [RCV002220686] Chr12:2601949 [GRCh38]
Chr12:2711115 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3049-13C>T single nucleotide variant Long QT syndrome [RCV002135983] Chr12:2605666 [GRCh38]
Chr12:2714832 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1275G>A (p.Arg425=) single nucleotide variant Cardiovascular phenotype [RCV002372989]|Long QT syndrome [RCV002121922] Chr12:2512869 [GRCh38]
Chr12:2622035 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2794-10T>G single nucleotide variant Long QT syndrome [RCV002098437] Chr12:2597220 [GRCh38]
Chr12:2706386 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.916+16G>A single nucleotide variant Long QT syndrome [RCV002158220] Chr12:2486278 [GRCh38]
Chr12:2595444 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6390C>T (p.Asp2130=) single nucleotide variant Long QT syndrome [RCV002102319] Chr12:2691172 [GRCh38]
Chr12:2800338 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3327C>T (p.Phe1109=) single nucleotide variant Long QT syndrome [RCV002156649] Chr12:2607101 [GRCh38]
Chr12:2716267 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2853+14C>T single nucleotide variant Long QT syndrome [RCV002140096] Chr12:2597303 [GRCh38]
Chr12:2706469 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2854-7C>T single nucleotide variant Long QT syndrome [RCV002180146] Chr12:2601847 [GRCh38]
Chr12:2711013 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2586C>G (p.Leu862=) single nucleotide variant Long QT syndrome [RCV002155176] Chr12:2593268 [GRCh38]
Chr12:2702434 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1896-17C>G single nucleotide variant Long QT syndrome [RCV002120681] Chr12:2581573 [GRCh38]
Chr12:2690739 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3048+19T>C single nucleotide variant Long QT syndrome [RCV002120815] Chr12:2605187 [GRCh38]
Chr12:2714353 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4878G>A (p.Glu1626=) single nucleotide variant Long QT syndrome [RCV002204866] Chr12:2677143 [GRCh38]
Chr12:2786309 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.477+154409T>G single nucleotide variant Long QT syndrome [RCV002217951] Chr12:2274839 [GRCh38]
Chr12:2384005 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.4914C>T (p.Gly1638=) single nucleotide variant Long QT syndrome [RCV002164664] Chr12:2677179 [GRCh38]
Chr12:2786345 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2058G>A (p.Arg686=) single nucleotide variant Long QT syndrome [RCV002154048] Chr12:2581752 [GRCh38]
Chr12:2690918 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1044C>T (p.Asn348=) single nucleotide variant Cardiovascular phenotype [RCV002400380]|Long QT syndrome [RCV002179219] Chr12:2493317 [GRCh38]
Chr12:2602483 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5763C>T (p.Pro1921=) single nucleotide variant Long QT syndrome [RCV002182934] Chr12:2686248 [GRCh38]
Chr12:2795414 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5739C>T (p.Asp1913=) single nucleotide variant Long QT syndrome [RCV002163286] Chr12:2686224 [GRCh38]
Chr12:2795390 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4863G>A (p.Thr1621=) single nucleotide variant Cardiovascular phenotype [RCV002337373]|Long QT syndrome [RCV002141297] Chr12:2677128 [GRCh38]
Chr12:2786294 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2853+8C>T single nucleotide variant Long QT syndrome [RCV002160085] Chr12:2597297 [GRCh38]
Chr12:2706463 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3357-9C>T single nucleotide variant Long QT syndrome [RCV002181405] Chr12:2608502 [GRCh38]
Chr12:2717668 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4232+18T>C single nucleotide variant Long QT syndrome [RCV002183255] Chr12:2655256 [GRCh38]
Chr12:2764422 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3945+10A>T single nucleotide variant Long QT syndrome [RCV002183313] Chr12:2648517 [GRCh38]
Chr12:2757683 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2339+19C>G single nucleotide variant Long QT syndrome [RCV002160461] Chr12:2584636 [GRCh38]
Chr12:2693802 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4624-6del deletion Long QT syndrome [RCV002141962] Chr12:2668926 [GRCh38]
Chr12:2778092 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1107G>C (p.Leu369=) single nucleotide variant Long QT syndrome [RCV002102802] Chr12:2493380 [GRCh38]
Chr12:2602546 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.645A>C (p.Ala215=) single nucleotide variant Long QT syndrome [RCV002217607] Chr12:2457594 [GRCh38]
Chr12:2566760 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2376G>A (p.Glu792=) single nucleotide variant Long QT syndrome [RCV002217626] Chr12:2585412 [GRCh38]
Chr12:2694578 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5532C>T (p.Asp1844=) single nucleotide variant Long QT syndrome [RCV002084387] Chr12:2682637 [GRCh38]
Chr12:2791803 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.54C>T (p.Ser18=) single nucleotide variant Cardiovascular phenotype [RCV002346388]|Long QT syndrome [RCV002204737] Chr12:2115228 [GRCh38]
Chr12:2224394 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.162G>C (p.Ala54=) single nucleotide variant Long QT syndrome [RCV002164269] Chr12:2115336 [GRCh38]
Chr12:2224502 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2664-12T>C single nucleotide variant Long QT syndrome [RCV002162674] Chr12:2595862 [GRCh38]
Chr12:2705028 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1895+20A>G single nucleotide variant Long QT syndrome [RCV002101239] Chr12:2567814 [GRCh38]
Chr12:2676980 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4131C>T (p.Ile1377=) single nucleotide variant Cardiovascular phenotype [RCV002331668]|Long QT syndrome [RCV002176722] Chr12:2653891 [GRCh38]
Chr12:2763057 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.125A>G (p.His42Arg) single nucleotide variant not provided [RCV002254104] Chr12:2115299 [GRCh38]
Chr12:2224465 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2337C>A (p.Ala779=) single nucleotide variant Long QT syndrome [RCV002164585] Chr12:2584615 [GRCh38]
Chr12:2693781 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3356+15C>A single nucleotide variant Long QT syndrome [RCV002119047] Chr12:2607145 [GRCh38]
Chr12:2716311 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2694T>C (p.Asn898=) single nucleotide variant Long QT syndrome [RCV002155545] Chr12:2595904 [GRCh38]
Chr12:2705070 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1107G>A (p.Leu369=) single nucleotide variant Cardiovascular phenotype [RCV003161542]|Long QT syndrome [RCV002155611] Chr12:2493380 [GRCh38]
Chr12:2602546 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1114-18A>G single nucleotide variant Long QT syndrome [RCV002140585] Chr12:2504824 [GRCh38]
Chr12:2613990 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.478-12T>C single nucleotide variant Long QT syndrome [RCV002103123] Chr12:2448964 [GRCh38]
Chr12:2558130 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6117+12G>A single nucleotide variant Long QT syndrome [RCV002141934] Chr12:2688791 [GRCh38]
Chr12:2797957 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1338C>T (p.Asp446=) single nucleotide variant Long QT syndrome [RCV002204763] Chr12:2512932 [GRCh38]
Chr12:2622098 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.777T>C (p.Asn259=) single nucleotide variant Long QT syndrome [RCV002201467] Chr12:2486123 [GRCh38]
Chr12:2595289 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.60T>C (p.Tyr20=) single nucleotide variant Long QT syndrome [RCV002197800] Chr12:2115234 [GRCh38]
Chr12:2224400 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4727-8C>T single nucleotide variant Long QT syndrome [RCV002098190] Chr12:2674533 [GRCh38]
Chr12:2783699 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4140+20G>C single nucleotide variant Long QT syndrome [RCV002184594] Chr12:2653920 [GRCh38]
Chr12:2763086 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1114-421C>A single nucleotide variant Long QT syndrome [RCV002119973] Chr12:2504421 [GRCh38]
Chr12:2613587 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5788T>C (p.Leu1930=) single nucleotide variant Long QT syndrome [RCV002180872] Chr12:2688450 [GRCh38]
Chr12:2797616 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.27C>T (p.Tyr9=) single nucleotide variant Long QT syndrome [RCV002142832] Chr12:2053589 [GRCh38]
Chr12:2162755 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.477+17C>T single nucleotide variant Long QT syndrome [RCV002102360] Chr12:2120447 [GRCh38]
Chr12:2229613 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6117+15G>A single nucleotide variant Long QT syndrome [RCV002142885] Chr12:2688794 [GRCh38]
Chr12:2797960 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4726+12C>G single nucleotide variant Long QT syndrome [RCV002179709] Chr12:2669047 [GRCh38]
Chr12:2778213 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2493T>C (p.Asn831=) single nucleotide variant Long QT syndrome [RCV002103960] Chr12:2585867 [GRCh38]
Chr12:2695033 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1670-15T>C single nucleotide variant Long QT syndrome [RCV002219290] Chr12:2567554 [GRCh38]
Chr12:2676720 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3399C>T (p.Gly1133=) single nucleotide variant Long QT syndrome [RCV002159886] Chr12:2608553 [GRCh38]
Chr12:2717719 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2224+9dup duplication Long QT syndrome [RCV002141194] Chr12:2582948..2582949 [GRCh38]
Chr12:2692114..2692115 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2325A>G (p.Arg775=) single nucleotide variant Long QT syndrome [RCV002200635] Chr12:2584603 [GRCh38]
Chr12:2693769 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1242G>A (p.Lys414=) single nucleotide variant Long QT syndrome [RCV002162105] Chr12:2512836 [GRCh38]
Chr12:2622002 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4032G>A (p.Glu1344=) single nucleotide variant Long QT syndrome [RCV002201670] Chr12:2651726 [GRCh38]
Chr12:2760892 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2397C>T (p.Ser799=) single nucleotide variant Cardiovascular phenotype [RCV002443174]|Long QT syndrome [RCV002103804]|not provided [RCV003326611] Chr12:2585433 [GRCh38]
Chr12:2694599 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6118-11C>T single nucleotide variant Long QT syndrome [RCV002119723] Chr12:2690889 [GRCh38]
Chr12:2800055 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2713C>T (p.Leu905=) single nucleotide variant Long QT syndrome [RCV002200085] Chr12:2595923 [GRCh38]
Chr12:2705089 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.144T>C (p.Ala48=) single nucleotide variant Long QT syndrome [RCV002119877] Chr12:2115318 [GRCh38]
Chr12:2224484 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4188C>T (p.Asn1396=) single nucleotide variant Long QT syndrome [RCV002220922] Chr12:2655194 [GRCh38]
Chr12:2764360 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3210-5C>A single nucleotide variant Long QT syndrome [RCV002143246] Chr12:2606979 [GRCh38]
Chr12:2716145 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3706C>T (p.Leu1236=) single nucleotide variant Long QT syndrome [RCV002216966] Chr12:2610688 [GRCh38]
Chr12:2719854 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6405C>T (p.Val2135=) single nucleotide variant Long QT syndrome [RCV002139650] Chr12:2691187 [GRCh38]
Chr12:2800353 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1611C>T (p.Asn537=) single nucleotide variant Long QT syndrome [RCV002123174] Chr12:2566524 [GRCh38]
Chr12:2675690 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4075-15T>C single nucleotide variant Long QT syndrome [RCV002123297] Chr12:2653820 [GRCh38]
Chr12:2762986 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.478-9G>A single nucleotide variant Long QT syndrome [RCV002203939] Chr12:2448967 [GRCh38]
Chr12:2558133 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3829-18C>T single nucleotide variant Long QT syndrome [RCV002123410] Chr12:2634279 [GRCh38]
Chr12:2743445 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1482-8T>A single nucleotide variant Long QT syndrome [RCV002175866] Chr12:2556943 [GRCh38]
Chr12:2666109 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.917-16C>T single nucleotide variant Long QT syndrome [RCV002178136] Chr12:2493174 [GRCh38]
Chr12:2602340 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4232+11G>A single nucleotide variant Long QT syndrome [RCV002179856] Chr12:2655249 [GRCh38]
Chr12:2764415 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5785-8G>A single nucleotide variant Long QT syndrome [RCV002118641] Chr12:2688439 [GRCh38]
Chr12:2797605 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3049-18C>T single nucleotide variant Long QT syndrome [RCV002184001] Chr12:2605661 [GRCh38]
Chr12:2714827 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3357-16C>G single nucleotide variant Long QT syndrome [RCV002138197] Chr12:2608495 [GRCh38]
Chr12:2717661 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.366A>G (p.Glu122=) single nucleotide variant Long QT syndrome [RCV002155330] Chr12:2115540 [GRCh38]
Chr12:2224706 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2403G>A (p.Glu801=) single nucleotide variant Cardiovascular phenotype [RCV002443267]|Long QT syndrome [RCV002184213] Chr12:2585439 [GRCh38]
Chr12:2694605 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2670C>T (p.Arg890=) single nucleotide variant Long QT syndrome [RCV002184382] Chr12:2595880 [GRCh38]
Chr12:2705046 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.618-7C>A single nucleotide variant Long QT syndrome [RCV002218119] Chr12:2457560 [GRCh38]
Chr12:2566726 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4957-20A>G single nucleotide variant Long QT syndrome [RCV002082753] Chr12:2677713 [GRCh38]
Chr12:2786879 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5955C>T (p.Ser1985=) single nucleotide variant Long QT syndrome [RCV002219911] Chr12:2688617 [GRCh38]
Chr12:2797783 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2224+22del deletion Long QT syndrome [RCV002180468] Chr12:2582959 [GRCh38]
Chr12:2692125 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3357-20G>A single nucleotide variant Long QT syndrome [RCV002182613] Chr12:2608491 [GRCh38]
Chr12:2717657 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5862C>T (p.Thr1954=) single nucleotide variant Long QT syndrome [RCV002101799] Chr12:2688524 [GRCh38]
Chr12:2797690 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3929A>C (p.Gln1310Pro) single nucleotide variant not provided [RCV003109869] Chr12:2648491 [GRCh38]
Chr12:2757657 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5444+613C>G single nucleotide variant not provided [RCV003110104] Chr12:2680409 [GRCh38]
Chr12:2789575 [GRCh37]
Chr12:12p13.33
uncertain significance
NC_000012.11:g.(?_862732)_(2800365_?)dup duplication not provided [RCV003113825] Chr12:862732..2800365 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.256T>C (p.Tyr86His) single nucleotide variant Long QT syndrome [RCV003113059] Chr12:2115430 [GRCh38]
Chr12:2224596 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3156+5A>G single nucleotide variant Long QT syndrome [RCV003118182] Chr12:2605791 [GRCh38]
Chr12:2714957 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3376G>A (p.Asp1126Asn) single nucleotide variant Long QT syndrome [RCV003117158]|not provided [RCV003325621] Chr12:2608530 [GRCh38]
Chr12:2717696 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5295C>T (p.Ala1765=) single nucleotide variant Long QT syndrome [RCV003112163] Chr12:2679647 [GRCh38]
Chr12:2788813 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1114-421C>T single nucleotide variant Long QT syndrome [RCV003112922] Chr12:2504421 [GRCh38]
Chr12:2613587 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6325G>A (p.Gly2109Arg) single nucleotide variant Long QT syndrome [RCV003121216]|not provided [RCV003143582] Chr12:2691107 [GRCh38]
Chr12:2800273 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3946-21_3946-19del microsatellite not provided [RCV003120163] Chr12:2651616..2651618 [GRCh38]
Chr12:2760782..2760784 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6319C>T (p.Arg2107Ter) single nucleotide variant Long QT syndrome [RCV003121425] Chr12:2691101 [GRCh38]
Chr12:2800267 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4479C>T (p.His1493=) single nucleotide variant Cardiovascular phenotype [RCV003162149]|Long QT syndrome [RCV003121435] Chr12:2665661 [GRCh38]
Chr12:2774827 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6369G>T (p.Pro2123=) single nucleotide variant Long QT syndrome [RCV003121471] Chr12:2691151 [GRCh38]
Chr12:2800317 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3946-13C>G single nucleotide variant Long QT syndrome [RCV003120069] Chr12:2651627 [GRCh38]
Chr12:2760793 [GRCh37]
Chr12:12p13.33
likely benign
NC_000012.11:g.(?_2795312)_(2800365_?)dup duplication Long QT syndrome [RCV003105310] Chr12:2795312..2800365 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4946T>C (p.Leu1649Pro) single nucleotide variant Timothy syndrome [RCV002273336] Chr12:2677211 [GRCh38]
Chr12:2786377 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1865T>G (p.Val622Gly) single nucleotide variant Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003233024] Chr12:2567764 [GRCh38]
Chr12:2676930 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.815C>T (p.Ala272Val) single nucleotide variant Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003233025] Chr12:2486161 [GRCh38]
Chr12:2595327 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.1694C>T (p.Ala565Val) single nucleotide variant Cardiovascular phenotype [RCV003278251] Chr12:2567593 [GRCh38]
Chr12:2676759 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5808C>T (p.Ser1936=) single nucleotide variant Cardiovascular phenotype [RCV003278252] Chr12:2688470 [GRCh38]
Chr12:2797636 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4022G>T (p.Ser1341Ile) single nucleotide variant not provided [RCV002286140] Chr12:2651716 [GRCh38]
Chr12:2760882 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2404G>A (p.Glu802Lys) single nucleotide variant not provided [RCV002265222] Chr12:2585440 [GRCh38]
Chr12:2694606 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5870C>A (p.Ala1957Asp) single nucleotide variant not specified [RCV002271762] Chr12:2688532 [GRCh38]
Chr12:2797698 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4141-605G>A single nucleotide variant Timothy syndrome [RCV002275667] Chr12:2654542 [GRCh38]
Chr12:2763708 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1390+4A>G single nucleotide variant Timothy syndrome [RCV002288433] Chr12:2512988 [GRCh38]
Chr12:2622154 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3606C>G (p.Tyr1202Ter) single nucleotide variant not provided [RCV002265436] Chr12:2610588 [GRCh38]
Chr12:2719754 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4417G>C (p.Ala1473Pro) single nucleotide variant CACNA1C-Related Disorder [RCV003159567]|Neurodevelopmental delay [RCV002274324] Chr12:2665599 [GRCh38]
Chr12:2774765 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.1672A>G (p.Thr558Ala) single nucleotide variant Long QT syndrome [RCV003120867]|not provided [RCV002269708] Chr12:2567571 [GRCh38]
Chr12:2676737 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5897dup (p.Gln1967fs) duplication not provided [RCV002293912] Chr12:2688554..2688555 [GRCh38]
Chr12:2797720..2797721 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.3659A>G (p.Tyr1220Cys) single nucleotide variant Cardiovascular phenotype [RCV002452519] Chr12:2610641 [GRCh38]
Chr12:2719807 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3861C>T (p.Asp1287=) single nucleotide variant Cardiovascular phenotype [RCV002366237] Chr12:2634329 [GRCh38]
Chr12:2743495 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3G>C (p.Met1Ile) single nucleotide variant not provided [RCV002283253] Chr12:2053565 [GRCh38]
Chr12:2162731 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1159dup (p.Thr387fs) duplication Neurodevelopmental disorder [RCV002272893] Chr12:2504886..2504887 [GRCh38]
Chr12:2614052..2614053 [GRCh37]
Chr12:12p13.33
pathogenic
CACNA1C, ILE1166THR single nucleotide variant Timothy syndrome [RCV002286520]   pathogenic
CACNA1C, ARG518CYS single nucleotide variant Timothy syndrome [RCV002286521]   pathogenic
CACNA1C, ARG518HIS variation Timothy syndrome [RCV002286522]   pathogenic
CACNA1C, GLU1115LYS variation Timothy syndrome [RCV002286524]   pathogenic
NM_000719.7(CACNA1C):c.664A>T (p.Asn222Tyr) single nucleotide variant Cardiovascular phenotype [RCV002366838] Chr12:2457613 [GRCh38]
Chr12:2566779 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5609C>A (p.Thr1870Lys) single nucleotide variant Long qt syndrome 8 [RCV002273083] Chr12:2685771 [GRCh38]
Chr12:2794937 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.583T>A (p.Trp195Arg) single nucleotide variant Neurodevelopmental abnormality [RCV002272001] Chr12:2449081 [GRCh38]
Chr12:2558247 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5116C>G (p.His1706Asp) single nucleotide variant Long QT syndrome [RCV003101534]|not provided [RCV002269481] Chr12:2679468 [GRCh38]
Chr12:2788634 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.617+17_617+19delinsATC indel not specified [RCV003230930] Chr12:2449132..2449134 [GRCh38]
Chr12:2558298..2558300 [GRCh37]
Chr12:12p13.33
benign
NM_000719.7(CACNA1C):c.3718-5T>C single nucleotide variant Cardiovascular phenotype [RCV002349053] Chr12:2611898 [GRCh38]
Chr12:2721064 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6234C>A (p.Ala2078=) single nucleotide variant Cardiovascular phenotype [RCV002366589] Chr12:2691016 [GRCh38]
Chr12:2800182 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe) single nucleotide variant Timothy syndrome [RCV002286523] Chr12:2581622 [GRCh38]
Chr12:2690788 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.6252G>C (p.Gly2084=) single nucleotide variant Cardiovascular phenotype [RCV002366684] Chr12:2691034 [GRCh38]
Chr12:2800200 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5431C>T (p.Leu1811Phe) single nucleotide variant Cardiovascular phenotype [RCV002349553] Chr12:2679783 [GRCh38]
Chr12:2788949 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3589C>A (p.Arg1197=) single nucleotide variant Cardiovascular phenotype [RCV002455122]|Long QT syndrome [RCV003099601] Chr12:2610571 [GRCh38]
Chr12:2719737 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1962G>A (p.Leu654=) single nucleotide variant Cardiovascular phenotype [RCV002421778]|Long QT syndrome [RCV003100966] Chr12:2581656 [GRCh38]
Chr12:2690822 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3106A>G (p.Thr1036Ala) single nucleotide variant not provided [RCV002267317] Chr12:2605736 [GRCh38]
Chr12:2714902 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2023G>A (p.Gly675Arg) single nucleotide variant Cardiovascular phenotype [RCV002419637] Chr12:2581717 [GRCh38]
Chr12:2690883 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6353G>A (p.Arg2118His) single nucleotide variant Cardiovascular phenotype [RCV002368992]|Long QT syndrome [RCV003098213] Chr12:2691135 [GRCh38]
Chr12:2800301 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5436C>T (p.Ser1812=) single nucleotide variant Cardiovascular phenotype [RCV002349571]|Long QT syndrome [RCV003096739] Chr12:2679788 [GRCh38]
Chr12:2788954 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4222C>G (p.Leu1408Val) single nucleotide variant Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV002284055] Chr12:2655228 [GRCh38]
Chr12:2764394 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.6356C>T (p.Ala2119Val) single nucleotide variant Cardiovascular phenotype [RCV002368997] Chr12:2691138 [GRCh38]
Chr12:2800304 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3705C>T (p.Cys1235=) single nucleotide variant Cardiovascular phenotype [RCV002348962] Chr12:2610687 [GRCh38]
Chr12:2719853 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1969C>T (p.Leu657Phe) single nucleotide variant Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV002284054] Chr12:2581663 [GRCh38]
Chr12:2690829 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.5481T>C (p.Gly1827=) single nucleotide variant Cardiovascular phenotype [RCV002349862] Chr12:2682586 [GRCh38]
Chr12:2791752 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3750C>T (p.Ala1250=) single nucleotide variant Cardiovascular phenotype [RCV002349302] Chr12:2611935 [GRCh38]
Chr12:2721101 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6387G>A (p.Gln2129=) single nucleotide variant Cardiovascular phenotype [RCV002369134] Chr12:2691169 [GRCh38]
Chr12:2800335 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.542A>G (p.Tyr181Cys) single nucleotide variant Cardiovascular phenotype [RCV002349537] Chr12:2449040 [GRCh38]
Chr12:2558206 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5518A>G (p.Lys1840Glu) single nucleotide variant Cardiovascular phenotype [RCV002351748] Chr12:2682623 [GRCh38]
Chr12:2791789 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5712G>A (p.Leu1904=) single nucleotide variant Cardiovascular phenotype [RCV002347651] Chr12:2686197 [GRCh38]
Chr12:2795363 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5528A>G (p.His1843Arg) single nucleotide variant Timothy syndrome [RCV002472076] Chr12:2682633 [GRCh38]
Chr12:2791799 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4609C>T (p.Arg1537Cys) single nucleotide variant Cardiovascular phenotype [RCV002342427] Chr12:2666768 [GRCh38]
Chr12:2775934 [GRCh37]
Chr12:12p13.33
uncertain significance
Single allele duplication Brugada syndrome 3 [RCV002468504] Chr12:2685653..2741045 [GRCh38]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 copy number gain not provided [RCV002472514] Chr12:173787..8320544 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_000719.7(CACNA1C):c.4996C>T (p.Arg1666Ter) single nucleotide variant Cardiovascular phenotype [RCV002342968] Chr12:2677772 [GRCh38]
Chr12:2786938 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.798C>A (p.Val266=) single nucleotide variant Cardiovascular phenotype [RCV002412396] Chr12:2486144 [GRCh38]
Chr12:2595310 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1237G>A (p.Glu413Lys) single nucleotide variant Long qt syndrome 8 [RCV002471493] Chr12:2512831 [GRCh38]
Chr12:2621997 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33(chr12:2019716-2674054)x3 copy number gain not provided [RCV002473531] Chr12:2019716..2674054 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2386G>C (p.Val796Leu) single nucleotide variant Cardiovascular phenotype [RCV002459518]|Long QT syndrome [RCV003098843] Chr12:2585422 [GRCh38]
Chr12:2694588 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1233G>A (p.Glu411=) single nucleotide variant Cardiovascular phenotype [RCV002378133] Chr12:2512827 [GRCh38]
Chr12:2621993 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.847G>A (p.Ala283Thr) single nucleotide variant Cardiovascular phenotype [RCV002443296]|not provided [RCV002301052] Chr12:2486193 [GRCh38]
Chr12:2595359 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.400_401del (p.Ile134fs) deletion not provided [RCV003237235] Chr12:2120352..2120353 [GRCh38]
Chr12:2229518..2229519 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.3206G>A (p.Cys1069Tyr) single nucleotide variant Cardiovascular phenotype [RCV002443372] Chr12:2606660 [GRCh38]
Chr12:2715826 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1394G>A (p.Ser465Asn) single nucleotide variant Cardiovascular phenotype [RCV002389079] Chr12:2549946 [GRCh38]
Chr12:2659112 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.324C>T (p.Thr108=) single nucleotide variant Cardiovascular phenotype [RCV002324875] Chr12:2115498 [GRCh38]
Chr12:2224664 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.420C>A (p.Ala140=) single nucleotide variant Cardiovascular phenotype [RCV002327926] Chr12:2120373 [GRCh38]
Chr12:2229539 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4218G>T (p.Val1406=) single nucleotide variant Cardiovascular phenotype [RCV002328004] Chr12:2655224 [GRCh38]
Chr12:2764390 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6320G>A (p.Arg2107Gln) single nucleotide variant Cardiovascular phenotype [RCV002353999] Chr12:2691102 [GRCh38]
Chr12:2800268 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3687C>T (p.Ile1229=) single nucleotide variant Cardiovascular phenotype [RCV002457443] Chr12:2610669 [GRCh38]
Chr12:2719835 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3181A>G (p.Ser1061Gly) single nucleotide variant Cardiovascular phenotype [RCV002322754]|Long QT syndrome [RCV003099271] Chr12:2606635 [GRCh38]
Chr12:2715801 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1618A>G (p.Thr540Ala) single nucleotide variant Cardiovascular phenotype [RCV002401005] Chr12:2566531 [GRCh38]
Chr12:2675697 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.728G>T (p.Arg243Leu) single nucleotide variant Long QT syndrome [RCV002305264] Chr12:2457677 [GRCh38]
Chr12:2566843 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5773G>T (p.Val1925Phe) single nucleotide variant Cardiovascular phenotype [RCV002359672] Chr12:2686258 [GRCh38]
Chr12:2795424 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1560A>G (p.Ala520=) single nucleotide variant Cardiovascular phenotype [RCV002405401] Chr12:2566473 [GRCh38]
Chr12:2675639 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5711_5712del (p.Leu1904fs) deletion Cardiovascular phenotype [RCV002347644] Chr12:2686196..2686197 [GRCh38]
Chr12:2795362..2795363 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3274G>A (p.Glu1092Lys) single nucleotide variant Long QT syndrome [RCV002295207] Chr12:2607048 [GRCh38]
Chr12:2716214 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3254_3260dup (p.Gln1087fs) duplication Cardiovascular phenotype [RCV002445627] Chr12:2607024..2607025 [GRCh38]
Chr12:2716190..2716191 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4290G>A (p.Lys1430=) single nucleotide variant Cardiovascular phenotype [RCV002330211] Chr12:2664882 [GRCh38]
Chr12:2774048 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.758-4G>A single nucleotide variant Cardiovascular phenotype [RCV002394128]|Long QT syndrome [RCV003103418] Chr12:2486100 [GRCh38]
Chr12:2595266 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.108G>T (p.Ala36=) single nucleotide variant Cardiovascular phenotype [RCV002446157] Chr12:2115282 [GRCh38]
Chr12:2224448 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2970A>G (p.Ala990=) single nucleotide variant Cardiovascular phenotype [RCV002442099] Chr12:2605090 [GRCh38]
Chr12:2714256 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1296G>A (p.Glu432=) single nucleotide variant Cardiovascular phenotype [RCV002380663] Chr12:2512890 [GRCh38]
Chr12:2622056 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2225-5_2225-2del deletion Cardiovascular phenotype [RCV002428126] Chr12:2584495..2584498 [GRCh38]
Chr12:2693661..2693664 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3165G>T (p.Leu1055=) single nucleotide variant Cardiovascular phenotype [RCV002322561] Chr12:2606619 [GRCh38]
Chr12:2715785 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6029G>T (p.Arg2010Ile) single nucleotide variant Cardiovascular phenotype [RCV002358144]|Long QT syndrome [RCV003103256] Chr12:2688691 [GRCh38]
Chr12:2797857 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4104G>A (p.Val1368=) single nucleotide variant Cardiovascular phenotype [RCV002323366] Chr12:2653864 [GRCh38]
Chr12:2763030 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1236G>A (p.Arg412=) single nucleotide variant Cardiovascular phenotype [RCV002365117] Chr12:2512830 [GRCh38]
Chr12:2621996 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3766A>T (p.Met1256Leu) single nucleotide variant Long QT syndrome [RCV002297909] Chr12:2611951 [GRCh38]
Chr12:2721117 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1740G>T (p.Leu580=) single nucleotide variant Cardiovascular phenotype [RCV002401403] Chr12:2567639 [GRCh38]
Chr12:2676805 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.837C>T (p.Ile279=) single nucleotide variant Cardiovascular phenotype [RCV002434805] Chr12:2486183 [GRCh38]
Chr12:2595349 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.922C>T (p.Pro308Ser) single nucleotide variant Cardiovascular phenotype [RCV002371316] Chr12:2493195 [GRCh38]
Chr12:2602361 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1614G>T (p.Thr538=) single nucleotide variant Cardiovascular phenotype [RCV002400954]|not provided [RCV003395477] Chr12:2566527 [GRCh38]
Chr12:2675693 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4731C>T (p.Asn1577=) single nucleotide variant Cardiovascular phenotype [RCV002335472] Chr12:2674545 [GRCh38]
Chr12:2783711 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3105C>T (p.Val1035=) single nucleotide variant Cardiovascular phenotype [RCV002326022] Chr12:2605735 [GRCh38]
Chr12:2714901 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.336C>T (p.Pro112=) single nucleotide variant Cardiovascular phenotype [RCV002451721] Chr12:2115510 [GRCh38]
Chr12:2224676 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3830A>G (p.His1277Arg) single nucleotide variant not provided [RCV002300944] Chr12:2634298 [GRCh38]
Chr12:2743464 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2512C>T (p.Pro838Ser) single nucleotide variant Cardiovascular phenotype [RCV002432946] Chr12:2585886 [GRCh38]
Chr12:2695052 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2805T>C (p.Tyr935=) single nucleotide variant Cardiovascular phenotype [RCV002441640] Chr12:2597241 [GRCh38]
Chr12:2706407 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3073G>A (p.Ala1025Thr) single nucleotide variant not provided [RCV002306219] Chr12:2605703 [GRCh38]
Chr12:2714869 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1890C>T (p.Ile630=) single nucleotide variant Cardiovascular phenotype [RCV002408018] Chr12:2567789 [GRCh38]
Chr12:2676955 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.204T>G (p.Ala68=) single nucleotide variant Cardiovascular phenotype [RCV002421801] Chr12:2115378 [GRCh38]
Chr12:2224544 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3174T>C (p.Cys1058=) single nucleotide variant Cardiovascular phenotype [RCV002322681] Chr12:2606628 [GRCh38]
Chr12:2715794 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4458G>C (p.Trp1486Cys) single nucleotide variant Long QT syndrome [RCV002295690] Chr12:2665640 [GRCh38]
Chr12:2774806 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.737G>A (p.Arg246Gln) single nucleotide variant Cardiovascular phenotype [RCV002380403]|not provided [RCV003317598] Chr12:2457686 [GRCh38]
Chr12:2566852 [GRCh37]
Chr12:12p13.33
pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.1895+3A>T single nucleotide variant Cardiovascular phenotype [RCV002408084] Chr12:2567797 [GRCh38]
Chr12:2676963 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1746C>T (p.Ala582=) single nucleotide variant Cardiovascular phenotype [RCV002401496] Chr12:2567645 [GRCh38]
Chr12:2676811 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5168C>T (p.Thr1723Ile) single nucleotide variant Cardiovascular phenotype [RCV002338352] Chr12:2679520 [GRCh38]
Chr12:2788686 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3888T>C (p.Val1296=) single nucleotide variant Cardiovascular phenotype [RCV002357376] Chr12:2634356 [GRCh38]
Chr12:2743522 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2464A>T (p.Asn822Tyr) single nucleotide variant Cardiovascular phenotype [RCV002430745] Chr12:2585838 [GRCh38]
Chr12:2695004 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1374G>A (p.Glu458=) single nucleotide variant Cardiovascular phenotype [RCV002383771]|Long QT syndrome [RCV003095054] Chr12:2512968 [GRCh38]
Chr12:2622134 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1372GAG[1] (p.Glu459del) microsatellite Cardiovascular phenotype [RCV002383780]|Long QT syndrome [RCV003095055] Chr12:2512966..2512968 [GRCh38]
Chr12:2622132..2622134 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5468C>G (p.Ala1823Gly) single nucleotide variant Long QT syndrome [RCV002297919] Chr12:2682573 [GRCh38]
Chr12:2791739 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5798C>G (p.Ala1933Gly) single nucleotide variant Cardiovascular phenotype [RCV002359796] Chr12:2688460 [GRCh38]
Chr12:2797626 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1118A>G (p.Asn373Ser) single nucleotide variant not provided [RCV002300718] Chr12:2504846 [GRCh38]
Chr12:2614012 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.7_9del (p.Asn3del) deletion Cardiovascular phenotype [RCV002364796] Chr12:2053569..2053571 [GRCh38]
Chr12:2162735..2162737 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.190C>T (p.Leu64=) single nucleotide variant Cardiovascular phenotype [RCV002408433] Chr12:2115364 [GRCh38]
Chr12:2224530 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1113+3A>G single nucleotide variant Cardiovascular phenotype [RCV002439323] Chr12:2493389 [GRCh38]
Chr12:2602555 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5820G>C (p.Gln1940His) single nucleotide variant Cardiovascular phenotype [RCV002353163] Chr12:2688482 [GRCh38]
Chr12:2797648 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3862G>T (p.Ala1288Ser) single nucleotide variant Cardiovascular phenotype [RCV002355555]|Long QT syndrome [RCV003108019] Chr12:2634330 [GRCh38]
Chr12:2743496 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3950C>T (p.Ala1317Val) single nucleotide variant Cardiovascular phenotype [RCV002357617] Chr12:2651644 [GRCh38]
Chr12:2760810 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6081G>A (p.Arg2027=) single nucleotide variant Cardiovascular phenotype [RCV002360003]|Long QT syndrome [RCV003098126] Chr12:2688743 [GRCh38]
Chr12:2797909 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4453dup (p.Asp1485fs) duplication Cardiovascular phenotype [RCV002328371] Chr12:2665632..2665633 [GRCh38]
Chr12:2774798..2774799 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.65G>A (p.Ser22Asn) single nucleotide variant Cardiovascular phenotype [RCV002364563]|Long QT syndrome [RCV003098302] Chr12:2115239 [GRCh38]
Chr12:2224405 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5256C>T (p.Thr1752=) single nucleotide variant Cardiovascular phenotype [RCV002340968] Chr12:2679608 [GRCh38]
Chr12:2788774 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5853T>A (p.Pro1951=) single nucleotide variant Cardiovascular phenotype [RCV002353354] Chr12:2688515 [GRCh38]
Chr12:2797681 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6172G>A (p.Val2058Ile) single nucleotide variant Cardiovascular phenotype [RCV002353720] Chr12:2690954 [GRCh38]
Chr12:2800120 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.819G>A (p.Leu273=) single nucleotide variant Cardiovascular phenotype [RCV002427883] Chr12:2486165 [GRCh38]
Chr12:2595331 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6025C>A (p.Arg2009=) single nucleotide variant Cardiovascular phenotype [RCV002358132]|Long QT syndrome [RCV003098108] Chr12:2688687 [GRCh38]
Chr12:2797853 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.352A>G (p.Ile118Val) single nucleotide variant Long QT syndrome [RCV002295223] Chr12:2115526 [GRCh38]
Chr12:2224692 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.17C>G (p.Thr6Arg) single nucleotide variant Cardiovascular phenotype [RCV002407872] Chr12:2053579 [GRCh38]
Chr12:2162745 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.17C>T (p.Thr6Met) single nucleotide variant Cardiovascular phenotype [RCV002407880] Chr12:2053579 [GRCh38]
Chr12:2162745 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6328G>A (p.Gly2110Ser) single nucleotide variant Cardiovascular phenotype [RCV002354011]|Long QT syndrome [RCV003103289] Chr12:2691110 [GRCh38]
Chr12:2800276 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5174A>T (p.Gln1725Leu) single nucleotide variant Cardiovascular phenotype [RCV002338407] Chr12:2679526 [GRCh38]
Chr12:2788692 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4597C>G (p.Leu1533Val) single nucleotide variant Cardiovascular phenotype [RCV002342304] Chr12:2666756 [GRCh38]
Chr12:2775922 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.856G>A (p.Gly286Ser) single nucleotide variant Cardiovascular phenotype [RCV002447884] Chr12:2486202 [GRCh38]
Chr12:2595368 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5187C>T (p.His1729=) single nucleotide variant Cardiovascular phenotype [RCV002338477] Chr12:2679539 [GRCh38]
Chr12:2788705 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3801C>T (p.Ile1267=) single nucleotide variant Cardiovascular phenotype [RCV002355185] Chr12:2611986 [GRCh38]
Chr12:2721152 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5131C>G (p.Gln1711Glu) single nucleotide variant Cardiovascular phenotype [RCV002344229] Chr12:2679483 [GRCh38]
Chr12:2788649 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1252C>T (p.Arg418Trp) single nucleotide variant Cardiovascular phenotype [RCV002412344]|Long QT syndrome [RCV003103447] Chr12:2512846 [GRCh38]
Chr12:2622012 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5213G>A (p.Gly1738Asp) single nucleotide variant Cardiovascular phenotype [RCV002344277] Chr12:2679565 [GRCh38]
Chr12:2788731 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2345C>G (p.Ala782Gly) single nucleotide variant Cardiovascular phenotype [RCV002448325] Chr12:2585381 [GRCh38]
Chr12:2694547 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5200G>A (p.Gly1734Ser) single nucleotide variant Cardiovascular phenotype [RCV002338631] Chr12:2679552 [GRCh38]
Chr12:2788718 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2399A>C (p.Lys800Thr) single nucleotide variant Cardiovascular phenotype [RCV002450220]|Long QT syndrome [RCV003098849] Chr12:2585435 [GRCh38]
Chr12:2694601 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1372G>A (p.Glu458Lys) single nucleotide variant not provided [RCV002308953] Chr12:2512966 [GRCh38]
Chr12:2622132 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4629G>A (p.Leu1543=) single nucleotide variant Cardiovascular phenotype [RCV002342544] Chr12:2668938 [GRCh38]
Chr12:2778104 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5914C>T (p.Leu1972=) single nucleotide variant Cardiovascular phenotype [RCV002355768]|Long QT syndrome [RCV003103246] Chr12:2688576 [GRCh38]
Chr12:2797742 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2024G>C (p.Gly675Ala) single nucleotide variant not provided [RCV002308862] Chr12:2581718 [GRCh38]
Chr12:2690884 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5232C>T (p.Ser1744=) single nucleotide variant Cardiovascular phenotype [RCV002340864] Chr12:2679584 [GRCh38]
Chr12:2788750 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4885C>T (p.Arg1629Trp) single nucleotide variant Cardiovascular phenotype [RCV002340502] Chr12:2677150 [GRCh38]
Chr12:2786316 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3544C>G (p.Leu1182Val) single nucleotide variant Cardiovascular phenotype [RCV002337611] Chr12:2608698 [GRCh38]
Chr12:2717864 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4549GTG[1] (p.Val1518del) microsatellite Cardiovascular phenotype [RCV002330355] Chr12:2666708..2666710 [GRCh38]
Chr12:2775874..2775876 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.49+3A>G single nucleotide variant Cardiovascular phenotype [RCV002340644] Chr12:2053614 [GRCh38]
Chr12:2162780 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.49+5G>A single nucleotide variant Cardiovascular phenotype [RCV002340645] Chr12:2053616 [GRCh38]
Chr12:2162782 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1845C>T (p.Gly615=) single nucleotide variant Cardiovascular phenotype [RCV002412917] Chr12:2567744 [GRCh38]
Chr12:2676910 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3540T>C (p.Cys1180=) single nucleotide variant Cardiovascular phenotype [RCV002337601] Chr12:2608694 [GRCh38]
Chr12:2717860 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2276C>A (p.Ala759Asp) single nucleotide variant Cardiovascular phenotype [RCV002446009] Chr12:2584554 [GRCh38]
Chr12:2693720 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4629G>T (p.Leu1543=) single nucleotide variant Cardiovascular phenotype [RCV002330386] Chr12:2668938 [GRCh38]
Chr12:2778104 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6097G>A (p.Ala2033Thr) single nucleotide variant Cardiovascular phenotype [RCV002360083] Chr12:2688759 [GRCh38]
Chr12:2797925 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1929C>A (p.Ser643=) single nucleotide variant Cardiovascular phenotype [RCV002410846] Chr12:2581623 [GRCh38]
Chr12:2690789 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5691C>T (p.Ala1897=) single nucleotide variant Cardiovascular phenotype [RCV002347485] Chr12:2686176 [GRCh38]
Chr12:2795342 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.483A>G (p.Arg161=) single nucleotide variant Cardiovascular phenotype [RCV002338113]|Long QT syndrome [RCV003102641] Chr12:2448981 [GRCh38]
Chr12:2558147 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4476C>T (p.His1492=) single nucleotide variant Cardiovascular phenotype [RCV002328507] Chr12:2665658 [GRCh38]
Chr12:2774824 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4477C>G (p.His1493Asp) single nucleotide variant Cardiovascular phenotype [RCV002328512] Chr12:2665659 [GRCh38]
Chr12:2774825 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4760C>A (p.Ala1587Glu) single nucleotide variant Cardiovascular phenotype [RCV002330648]|not provided [RCV003327562] Chr12:2674574 [GRCh38]
Chr12:2783740 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4686G>A (p.Leu1562=) single nucleotide variant Cardiovascular phenotype [RCV002335226]|Long QT syndrome [RCV003096418] Chr12:2668995 [GRCh38]
Chr12:2778161 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1540A>C (p.Arg514=) single nucleotide variant Cardiovascular phenotype [RCV002403160] Chr12:2566453 [GRCh38]
Chr12:2675619 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2461-4C>G single nucleotide variant Cardiovascular phenotype [RCV002455484] Chr12:2585831 [GRCh38]
Chr12:2694997 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1113+4C>G single nucleotide variant Cardiovascular phenotype [RCV002439327] Chr12:2493390 [GRCh38]
Chr12:2602556 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2615T>C (p.Val872Ala) single nucleotide variant Cardiovascular phenotype [RCV002426358] Chr12:2593297 [GRCh38]
Chr12:2702463 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4043C>T (p.Thr1348Met) single nucleotide variant Cardiovascular phenotype [RCV002321220] Chr12:2651737 [GRCh38]
Chr12:2760903 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5191A>G (p.Asn1731Asp) single nucleotide variant Cardiovascular phenotype [RCV002338508]|Long QT syndrome [RCV003102702] Chr12:2679543 [GRCh38]
Chr12:2788709 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3358C>G (p.Leu1120Val) single nucleotide variant Cardiovascular phenotype [RCV002321033] Chr12:2608512 [GRCh38]
Chr12:2717678 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1050C>T (p.Ala350=) single nucleotide variant Cardiovascular phenotype [RCV002403514] Chr12:2493323 [GRCh38]
Chr12:2602489 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1669+17G>T single nucleotide variant Long QT syndrome [RCV002994545] Chr12:2566599 [GRCh38]
Chr12:2675765 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2305_2322del (p.Glu769_Glu774del) deletion Long QT syndrome [RCV002863444] Chr12:2584577..2584594 [GRCh38]
Chr12:2693743..2693760 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5657G>A (p.Gly1886Asp) single nucleotide variant Inborn genetic diseases [RCV002968194] Chr12:2685819 [GRCh38]
Chr12:2794985 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.477+115699G>A single nucleotide variant Post-traumatic stress disorder [RCV002481080] Chr12:2236129 [GRCh38]
Chr12:2345295 [GRCh37]
Chr12:12p13.33
uncertain risk allele
NM_000719.7(CACNA1C):c.3990G>A (p.Leu1330=) single nucleotide variant Long QT syndrome [RCV002862588] Chr12:2651684 [GRCh38]
Chr12:2760850 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6323_6337dup (p.Glu2112_Asp2113insAlaGlyGlyGluGlu) duplication Timothy syndrome [RCV002510735] Chr12:2691103..2691104 [GRCh38]
Chr12:2800269..2800270 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5403del (p.Ile1802fs) deletion Inborn genetic diseases [RCV002776967] Chr12:2679754 [GRCh38]
Chr12:2788920 [GRCh37]
Chr12:12p13.33
pathogenic|uncertain significance
NM_000719.7(CACNA1C):c.182A>G (p.Gln61Arg) single nucleotide variant Long QT syndrome [RCV002995304] Chr12:2115356 [GRCh38]
Chr12:2224522 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1391-3C>G single nucleotide variant Long QT syndrome [RCV003014641] Chr12:2549940 [GRCh38]
Chr12:2659106 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4755G>A (p.Leu1585=) single nucleotide variant Long QT syndrome [RCV002861756] Chr12:2674569 [GRCh38]
Chr12:2783735 [GRCh37]
Chr12:12p13.33
likely benign
GRCh37/hg19 12p13.33(chr12:817514-2205439)x1 copy number loss not provided [RCV002475589] Chr12:817514..2205439 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.1615C>T (p.Leu539Phe) single nucleotide variant Long QT syndrome [RCV002815337] Chr12:2566528 [GRCh38]
Chr12:2675694 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2586C>T (p.Leu862=) single nucleotide variant Long QT syndrome [RCV002816238] Chr12:2593268 [GRCh38]
Chr12:2702434 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3669C>T (p.Tyr1223=) single nucleotide variant Long QT syndrome [RCV003074217] Chr12:2610651 [GRCh38]
Chr12:2719817 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2733G>C (p.Leu911=) single nucleotide variant Long QT syndrome [RCV002908764] Chr12:2595943 [GRCh38]
Chr12:2705109 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.624T>C (p.Phe208=) single nucleotide variant Long QT syndrome [RCV002636233] Chr12:2457573 [GRCh38]
Chr12:2566739 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3819C>G (p.Phe1273Leu) single nucleotide variant Long QT syndrome [RCV002795024] Chr12:2612004 [GRCh38]
Chr12:2721170 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4398+17C>T single nucleotide variant Long QT syndrome [RCV002617820] Chr12:2665007 [GRCh38]
Chr12:2774173 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.732C>A (p.Pro244=) single nucleotide variant Long QT syndrome [RCV002866134] Chr12:2457681 [GRCh38]
Chr12:2566847 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3717+7C>A single nucleotide variant Long QT syndrome [RCV002863405] Chr12:2610706 [GRCh38]
Chr12:2719872 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2794-15C>A single nucleotide variant Long QT syndrome [RCV003076951] Chr12:2597215 [GRCh38]
Chr12:2706381 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4317C>A (p.Asn1439Lys) single nucleotide variant Long QT syndrome [RCV002771191] Chr12:2664909 [GRCh38]
Chr12:2774075 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5118C>G (p.His1706Gln) single nucleotide variant Long QT syndrome [RCV002571555]|not provided [RCV002508395] Chr12:2679470 [GRCh38]
Chr12:2788636 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3828+19C>A single nucleotide variant Long QT syndrome [RCV002780028] Chr12:2612032 [GRCh38]
Chr12:2721198 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.885C>T (p.His295=) single nucleotide variant Long QT syndrome [RCV002815804] Chr12:2486231 [GRCh38]
Chr12:2595397 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3117G>A (p.Leu1039=) single nucleotide variant Long QT syndrome [RCV003033398] Chr12:2605747 [GRCh38]
Chr12:2714913 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3932G>A (p.Cys1311Tyr) single nucleotide variant Long QT syndrome [RCV003033911] Chr12:2648494 [GRCh38]
Chr12:2757660 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2961-3C>T single nucleotide variant Long QT syndrome [RCV003013534] Chr12:2605078 [GRCh38]
Chr12:2714244 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5979C>T (p.Gly1993=) single nucleotide variant Long QT syndrome [RCV003015745] Chr12:2688641 [GRCh38]
Chr12:2797807 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3357-19G>A single nucleotide variant Long QT syndrome [RCV002862890] Chr12:2608492 [GRCh38]
Chr12:2717658 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5573+6C>T single nucleotide variant Long QT syndrome [RCV002681833] Chr12:2682684 [GRCh38]
Chr12:2791850 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.575G>A (p.Arg192His) single nucleotide variant Long QT syndrome [RCV003074661] Chr12:2449073 [GRCh38]
Chr12:2558239 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.246G>A (p.Lys82=) single nucleotide variant Long QT syndrome [RCV003075384] Chr12:2115420 [GRCh38]
Chr12:2224586 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5789T>C (p.Leu1930Ser) single nucleotide variant Long QT syndrome [RCV002730151] Chr12:2688451 [GRCh38]
Chr12:2797617 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6012C>T (p.Gly2004=) single nucleotide variant Long QT syndrome [RCV003011649] Chr12:2688674 [GRCh38]
Chr12:2797840 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4984G>C (p.Gly1662Arg) single nucleotide variant Long QT syndrome [RCV002907804] Chr12:2677760 [GRCh38]
Chr12:2786926 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6345C>T (p.Gly2115=) single nucleotide variant Cardiovascular phenotype [RCV003367966]|Long QT syndrome [RCV003076616] Chr12:2691127 [GRCh38]
Chr12:2800293 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5676A>G (p.Ser1892=) single nucleotide variant Long QT syndrome [RCV002904855] Chr12:2685838 [GRCh38]
Chr12:2795004 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5949C>T (p.Leu1983=) single nucleotide variant Long QT syndrome [RCV002750770] Chr12:2688611 [GRCh38]
Chr12:2797777 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4028G>A (p.Gly1343Glu) single nucleotide variant Long QT syndrome [RCV002842506] Chr12:2651722 [GRCh38]
Chr12:2760888 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.975del (p.Gln325fs) deletion Long QT syndrome [RCV002863763] Chr12:2493248 [GRCh38]
Chr12:2602414 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5574-18A>G single nucleotide variant Long QT syndrome [RCV002907909] Chr12:2685718 [GRCh38]
Chr12:2794884 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.444A>G (p.Pro148=) single nucleotide variant Long QT syndrome [RCV003076003] Chr12:2120397 [GRCh38]
Chr12:2229563 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4210C>G (p.Gln1404Glu) single nucleotide variant Long QT syndrome [RCV002726612] Chr12:2655216 [GRCh38]
Chr12:2764382 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3049-7A>C single nucleotide variant Long QT syndrome [RCV002842412] Chr12:2605672 [GRCh38]
Chr12:2714838 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4623+4A>G single nucleotide variant Long QT syndrome [RCV003034363] Chr12:2666786 [GRCh38]
Chr12:2775952 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.477+15C>G single nucleotide variant Long QT syndrome [RCV002880601] Chr12:2120445 [GRCh38]
Chr12:2229611 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5091+12C>T single nucleotide variant Long QT syndrome [RCV002571768] Chr12:2677879 [GRCh38]
Chr12:2787045 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2854-18C>A single nucleotide variant Long QT syndrome [RCV002622562] Chr12:2601836 [GRCh38]
Chr12:2711002 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6260dup (p.Gln2088fs) duplication Long QT syndrome [RCV002847936] Chr12:2691038..2691039 [GRCh38]
Chr12:2800204..2800205 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1151A>C (p.Tyr384Ser) single nucleotide variant Long QT syndrome [RCV002912661] Chr12:2504879 [GRCh38]
Chr12:2614045 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5047A>C (p.Met1683Leu) single nucleotide variant Long QT syndrome [RCV002927414] Chr12:2677823 [GRCh38]
Chr12:2786989 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2555A>C (p.Glu852Ala) single nucleotide variant Cardiovascular phenotype [RCV003294454]|Long QT syndrome [RCV003078954] Chr12:2593237 [GRCh38]
Chr12:2702403 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3946-15G>C single nucleotide variant Long QT syndrome [RCV002659459] Chr12:2651625 [GRCh38]
Chr12:2760791 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2558T>C (p.Met853Thr) single nucleotide variant Long QT syndrome [RCV003039401] Chr12:2593240 [GRCh38]
Chr12:2702406 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.474C>T (p.Asn158=) single nucleotide variant Long QT syndrome [RCV002695270] Chr12:2120427 [GRCh38]
Chr12:2229593 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2664-6G>T single nucleotide variant Long QT syndrome [RCV002740080] Chr12:2595868 [GRCh38]
Chr12:2705034 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6329G>C (p.Gly2110Ala) single nucleotide variant Long QT syndrome [RCV002621276] Chr12:2691111 [GRCh38]
Chr12:2800277 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.318C>T (p.Cys106=) single nucleotide variant Long QT syndrome [RCV002871102] Chr12:2115492 [GRCh38]
Chr12:2224658 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3718-4G>A single nucleotide variant Long QT syndrome [RCV003081601] Chr12:2611899 [GRCh38]
Chr12:2721065 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1161A>G (p.Thr387=) single nucleotide variant Long QT syndrome [RCV003020700] Chr12:2504889 [GRCh38]
Chr12:2614055 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2312AGGAGA[3] (p.Glu774_Arg775insLysGlu) microsatellite Long QT syndrome [RCV003020750] Chr12:2584589..2584590 [GRCh38]
Chr12:2693755..2693756 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.206G>A (p.Gly69Asp) single nucleotide variant Long QT syndrome [RCV003021720] Chr12:2115380 [GRCh38]
Chr12:2224546 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3837C>T (p.Phe1279=) single nucleotide variant Long QT syndrome [RCV003000147] Chr12:2634305 [GRCh38]
Chr12:2743471 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4829-17C>G single nucleotide variant Long QT syndrome [RCV002619106] Chr12:2677077 [GRCh38]
Chr12:2786243 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6041T>C (p.Val2014Ala) single nucleotide variant Inborn genetic diseases [RCV003080177]|Long QT syndrome [RCV003091857] Chr12:2688703 [GRCh38]
Chr12:2797869 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6280del (p.Leu2094fs) deletion Long QT syndrome [RCV002846761] Chr12:2691060 [GRCh38]
Chr12:2800226 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1840C>T (p.Leu614=) single nucleotide variant Long QT syndrome [RCV002785974] Chr12:2567739 [GRCh38]
Chr12:2676905 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3410A>G (p.Asn1137Ser) single nucleotide variant Long QT syndrome [RCV003054045] Chr12:2608564 [GRCh38]
Chr12:2717730 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5511T>C (p.Tyr1837=) single nucleotide variant Long QT syndrome [RCV003078211] Chr12:2682616 [GRCh38]
Chr12:2791782 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3802C>T (p.Leu1268=) single nucleotide variant Long QT syndrome [RCV003036474] Chr12:2611987 [GRCh38]
Chr12:2721153 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.585G>A (p.Trp195Ter) single nucleotide variant Long QT syndrome [RCV003037617] Chr12:2449083 [GRCh38]
Chr12:2558249 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1509-17C>A single nucleotide variant Long QT syndrome [RCV003080091] Chr12:2566405 [GRCh38]
Chr12:2675571 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.757+17C>A single nucleotide variant Long QT syndrome [RCV002886024] Chr12:2457723 [GRCh38]
Chr12:2566889 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4668C>T (p.Val1556=) single nucleotide variant Long QT syndrome [RCV002619610] Chr12:2668977 [GRCh38]
Chr12:2778143 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2461-10G>C single nucleotide variant Long QT syndrome [RCV002706318] Chr12:2585825 [GRCh38]
Chr12:2694991 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4623+12C>T single nucleotide variant Long QT syndrome [RCV003079532] Chr12:2666794 [GRCh38]
Chr12:2775960 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1332C>G (p.Ala444=) single nucleotide variant Long QT syndrome [RCV002998985] Chr12:2512926 [GRCh38]
Chr12:2622092 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1668A>C (p.Gln556His) single nucleotide variant Long QT syndrome [RCV003036053] Chr12:2566581 [GRCh38]
Chr12:2675747 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1571A>G (p.Asn524Ser) single nucleotide variant Long QT syndrome [RCV002780652] Chr12:2566484 [GRCh38]
Chr12:2675650 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4329T>C (p.Gly1443=) single nucleotide variant Long QT syndrome [RCV002662414] Chr12:2664921 [GRCh38]
Chr12:2774087 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2304G>C (p.Glu768Asp) single nucleotide variant Long QT syndrome [RCV003100245] Chr12:2584582 [GRCh38]
Chr12:2693748 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2853+186T>C single nucleotide variant Long QT syndrome [RCV002622710] Chr12:2597475 [GRCh38]
Chr12:2706641 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1062C>T (p.Leu354=) single nucleotide variant Long QT syndrome [RCV002885062] Chr12:2493335 [GRCh38]
Chr12:2602501 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.95C>G (p.Ala32Gly) single nucleotide variant Long QT syndrome [RCV002796599] Chr12:2115269 [GRCh38]
Chr12:2224435 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1217+18A>T single nucleotide variant Long QT syndrome [RCV003000173] Chr12:2504963 [GRCh38]
Chr12:2614129 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4753C>G (p.Leu1585Val) single nucleotide variant Long QT syndrome [RCV003020369] Chr12:2674567 [GRCh38]
Chr12:2783733 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4956+12G>A single nucleotide variant Long QT syndrome [RCV002780777] Chr12:2677233 [GRCh38]
Chr12:2786399 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1307G>C (p.Gly436Ala) single nucleotide variant Long QT syndrome [RCV003077864] Chr12:2512901 [GRCh38]
Chr12:2622067 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3096C>A (p.Ile1032=) single nucleotide variant Long QT syndrome [RCV002912574] Chr12:2605726 [GRCh38]
Chr12:2714892 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4956+18G>T single nucleotide variant Long QT syndrome [RCV002592109] Chr12:2677239 [GRCh38]
Chr12:2786405 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.592C>T (p.Leu198=) single nucleotide variant Long QT syndrome [RCV003053162] Chr12:2449090 [GRCh38]
Chr12:2558256 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6039C>G (p.Pro2013=) single nucleotide variant Long QT syndrome [RCV002761163] Chr12:2688701 [GRCh38]
Chr12:2797867 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.612T>G (p.Val204=) single nucleotide variant Long QT syndrome [RCV002870931] Chr12:2449110 [GRCh38]
Chr12:2558276 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4567C>T (p.Arg1523Trp) single nucleotide variant Long QT syndrome [RCV002619031]|not provided [RCV003234225] Chr12:2666726 [GRCh38]
Chr12:2775892 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3558+20C>T single nucleotide variant Long QT syndrome [RCV002618992] Chr12:2608732 [GRCh38]
Chr12:2717898 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5573+16C>T single nucleotide variant Long QT syndrome [RCV003080672] Chr12:2682694 [GRCh38]
Chr12:2791860 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1895+8dup duplication Long QT syndrome [RCV003036128] Chr12:2567799..2567800 [GRCh38]
Chr12:2676965..2676966 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.857G>C (p.Gly286Ala) single nucleotide variant Long QT syndrome [RCV003017998] Chr12:2486203 [GRCh38]
Chr12:2595369 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4125G>A (p.Ala1375=) single nucleotide variant Cardiovascular phenotype [RCV003274214]|Long QT syndrome [RCV003078071] Chr12:2653885 [GRCh38]
Chr12:2763051 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5872del (p.Thr1958fs) deletion Long QT syndrome [RCV002821073] Chr12:2688534 [GRCh38]
Chr12:2797700 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1670-8C>A single nucleotide variant Long QT syndrome [RCV002846705] Chr12:2567561 [GRCh38]
Chr12:2676727 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.265C>G (p.Pro89Ala) single nucleotide variant Long QT syndrome [RCV002824866] Chr12:2115439 [GRCh38]
Chr12:2224605 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.521C>G (p.Ala174Gly) single nucleotide variant Long QT syndrome [RCV003077550] Chr12:2449019 [GRCh38]
Chr12:2558185 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2384C>T (p.Ala795Val) single nucleotide variant Long QT syndrome [RCV003037440] Chr12:2585420 [GRCh38]
Chr12:2694586 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4727-45C>T single nucleotide variant Long QT syndrome [RCV003037441] Chr12:2674496 [GRCh38]
Chr12:2783662 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3210-16_3210-14del deletion Long QT syndrome [RCV002591882] Chr12:2606966..2606968 [GRCh38]
Chr12:2716132..2716134 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5092-15_5092-14dup duplication Long QT syndrome [RCV002705865] Chr12:2679428..2679429 [GRCh38]
Chr12:2788594..2788595 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2486A>T (p.Asn829Ile) single nucleotide variant Long QT syndrome [RCV002591677] Chr12:2585860 [GRCh38]
Chr12:2695026 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_152640.5(DCP1B):c.80A>G (p.Tyr27Cys) single nucleotide variant Inborn genetic diseases [RCV002844964] Chr12:2004352 [GRCh38]
Chr12:2113518 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3261A>G (p.Gln1087=) single nucleotide variant Long QT syndrome [RCV003079797] Chr12:2607035 [GRCh38]
Chr12:2716201 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5474T>C (p.Met1825Thr) single nucleotide variant Long QT syndrome [RCV002638838] Chr12:2682579 [GRCh38]
Chr12:2791745 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2319G>A (p.Lys773=) single nucleotide variant Long QT syndrome [RCV002948497] Chr12:2584597 [GRCh38]
Chr12:2693763 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4624-19T>C single nucleotide variant Long QT syndrome [RCV002735740] Chr12:2668914 [GRCh38]
Chr12:2778080 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5445-3T>C single nucleotide variant Long QT syndrome [RCV003056602] Chr12:2682547 [GRCh38]
Chr12:2791713 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5977G>A (p.Gly1993Ser) single nucleotide variant Long QT syndrome [RCV003085782] Chr12:2688639 [GRCh38]
Chr12:2797805 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5444+13C>A single nucleotide variant Long QT syndrome [RCV002576341] Chr12:2679809 [GRCh38]
Chr12:2788975 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5998_6006del (p.Pro2000_Gly2002del) deletion Long QT syndrome [RCV003085801] Chr12:2688659..2688667 [GRCh38]
Chr12:2797825..2797833 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5128T>A (p.Tyr1710Asn) single nucleotide variant Long QT syndrome [RCV002574859]|not provided [RCV003317613] Chr12:2679480 [GRCh38]
Chr12:2788646 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6337G>A (p.Asp2113Asn) single nucleotide variant Long QT syndrome [RCV002712143] Chr12:2691119 [GRCh38]
Chr12:2800285 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1539C>T (p.Cys513=) single nucleotide variant Long QT syndrome [RCV002596475] Chr12:2566452 [GRCh38]
Chr12:2675618 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2699C>T (p.Thr900Met) single nucleotide variant Long QT syndrome [RCV002741951] Chr12:2595909 [GRCh38]
Chr12:2705075 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2470G>A (p.Asp824Asn) single nucleotide variant Long QT syndrome [RCV003083833] Chr12:2585844 [GRCh38]
Chr12:2695010 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4828+16A>T single nucleotide variant Long QT syndrome [RCV002574115] Chr12:2674658 [GRCh38]
Chr12:2783824 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.667G>A (p.Ala223Thr) single nucleotide variant Long QT syndrome [RCV002594255] Chr12:2457616 [GRCh38]
Chr12:2566782 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4577del (p.Pro1526fs) deletion Long QT syndrome [RCV002917834] Chr12:2666735 [GRCh38]
Chr12:2775901 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2664-3C>T single nucleotide variant Long QT syndrome [RCV002642650] Chr12:2595871 [GRCh38]
Chr12:2705037 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3718-17C>G single nucleotide variant Long QT syndrome [RCV002666676] Chr12:2611886 [GRCh38]
Chr12:2721052 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3717+16A>G single nucleotide variant Long QT syndrome [RCV003041583] Chr12:2610715 [GRCh38]
Chr12:2719881 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4942G>C (p.Ala1648Pro) single nucleotide variant Long QT syndrome [RCV002928664] Chr12:2677207 [GRCh38]
Chr12:2786373 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5418G>A (p.Glu1806=) single nucleotide variant Long QT syndrome [RCV002851926] Chr12:2679770 [GRCh38]
Chr12:2788936 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4956+7G>A single nucleotide variant Long QT syndrome [RCV002766359] Chr12:2677228 [GRCh38]
Chr12:2786394 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5668T>C (p.Ser1890Pro) single nucleotide variant Long QT syndrome [RCV003082117] Chr12:2685830 [GRCh38]
Chr12:2794996 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4956+15G>A single nucleotide variant Long QT syndrome [RCV003005377] Chr12:2677236 [GRCh38]
Chr12:2786402 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5717G>T (p.Arg1906Leu) single nucleotide variant Long QT syndrome [RCV002741076] Chr12:2686202 [GRCh38]
Chr12:2795368 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2407A>G (p.Lys803Glu) single nucleotide variant Long QT syndrome [RCV002667768] Chr12:2585443 [GRCh38]
Chr12:2694609 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5851C>G (p.Pro1951Ala) single nucleotide variant Long QT syndrome [RCV002623644] Chr12:2688513 [GRCh38]
Chr12:2797679 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2456C>T (p.Thr819Ile) single nucleotide variant Long QT syndrome [RCV002853000] Chr12:2585492 [GRCh38]
Chr12:2694658 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5133A>G (p.Gln1711=) single nucleotide variant Long QT syndrome [RCV002890067] Chr12:2679485 [GRCh38]
Chr12:2788651 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3156+12G>T single nucleotide variant Long QT syndrome [RCV002917574] Chr12:2605798 [GRCh38]
Chr12:2714964 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2751G>T (p.Leu917=) single nucleotide variant Long QT syndrome [RCV002625266] Chr12:2595961 [GRCh38]
Chr12:2705127 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.758-6C>T single nucleotide variant Long QT syndrome [RCV003082059] Chr12:2486098 [GRCh38]
Chr12:2595264 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5125T>C (p.Tyr1709His) single nucleotide variant Long QT syndrome [RCV002594660] Chr12:2679477 [GRCh38]
Chr12:2788643 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2853+217C>A single nucleotide variant Long QT syndrome [RCV002766639] Chr12:2597506 [GRCh38]
Chr12:2706672 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2411T>C (p.Ile804Thr) single nucleotide variant Long QT syndrome [RCV002982729] Chr12:2585447 [GRCh38]
Chr12:2694613 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4141-20C>T single nucleotide variant Long QT syndrome [RCV002595368] Chr12:2655127 [GRCh38]
Chr12:2764293 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1218-6C>G single nucleotide variant Long QT syndrome [RCV003006495] Chr12:2512806 [GRCh38]
Chr12:2621972 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3558+17G>A single nucleotide variant Long QT syndrome [RCV002766688] Chr12:2608729 [GRCh38]
Chr12:2717895 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4912G>A (p.Gly1638Ser) single nucleotide variant Long QT syndrome [RCV003043371] Chr12:2677177 [GRCh38]
Chr12:2786343 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1895+13C>T single nucleotide variant Long QT syndrome [RCV002954182] Chr12:2567807 [GRCh38]
Chr12:2676973 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2573G>T (p.Arg858Leu) single nucleotide variant Long QT syndrome [RCV002643130] Chr12:2593255 [GRCh38]
Chr12:2702421 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5701C>T (p.Leu1901=) single nucleotide variant Long QT syndrome [RCV003081911] Chr12:2686186 [GRCh38]
Chr12:2795352 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4737A>G (p.Glu1579=) single nucleotide variant Cardiovascular phenotype [RCV003289577]|Long QT syndrome [RCV002642478] Chr12:2674551 [GRCh38]
Chr12:2783717 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1113+17G>A single nucleotide variant Long QT syndrome [RCV002828334] Chr12:2493403 [GRCh38]
Chr12:2602569 [GRCh37]
Chr12:12p13.33
likely benign
NM_001167623.2(CACNA1C):c.1185C>T (p.Phe395=) single nucleotide variant Long QT syndrome [RCV003084009] Chr12:2504507 [GRCh38]
Chr12:2613673 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6282C>T (p.Leu2094=) single nucleotide variant Long QT syndrome [RCV003058846] Chr12:2691064 [GRCh38]
Chr12:2800230 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1956C>T (p.Ala652=) single nucleotide variant Long QT syndrome [RCV002852378] Chr12:2581650 [GRCh38]
Chr12:2690816 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3718-16C>T single nucleotide variant Long QT syndrome [RCV003005921] Chr12:2611887 [GRCh38]
Chr12:2721053 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3965G>T (p.Arg1322Leu) single nucleotide variant Long QT syndrome [RCV003040562] Chr12:2651659 [GRCh38]
Chr12:2760825 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.467A>G (p.Asn156Ser) single nucleotide variant Long QT syndrome [RCV002825648] Chr12:2120420 [GRCh38]
Chr12:2229586 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5784+10A>T single nucleotide variant Long QT syndrome [RCV003005567] Chr12:2686279 [GRCh38]
Chr12:2795445 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2346C>T (p.Ala782=) single nucleotide variant Long QT syndrome [RCV002594994] Chr12:2585382 [GRCh38]
Chr12:2694548 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5334C>A (p.Leu1778=) single nucleotide variant Long QT syndrome [RCV002595351] Chr12:2679686 [GRCh38]
Chr12:2788852 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5315A>C (p.Asn1772Thr) single nucleotide variant Long QT syndrome [RCV002988738] Chr12:2679667 [GRCh38]
Chr12:2788833 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5751G>A (p.Lys1917=) single nucleotide variant Long QT syndrome [RCV002988740] Chr12:2686236 [GRCh38]
Chr12:2795402 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.33A>G (p.Pro11=) single nucleotide variant Long QT syndrome [RCV002581747] Chr12:2053595 [GRCh38]
Chr12:2162761 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5407C>A (p.Arg1803=) single nucleotide variant Long QT syndrome [RCV002676445] Chr12:2679759 [GRCh38]
Chr12:2788925 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1693G>T (p.Ala565Ser) single nucleotide variant Long QT syndrome [RCV002721123] Chr12:2567592 [GRCh38]
Chr12:2676758 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2960+18A>G single nucleotide variant Long QT syndrome [RCV002721087] Chr12:2601978 [GRCh38]
Chr12:2711144 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2104-3C>T single nucleotide variant Long QT syndrome [RCV002632876] Chr12:2582819 [GRCh38]
Chr12:2691985 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1640A>G (p.Asn547Ser) single nucleotide variant Long QT syndrome [RCV002580326] Chr12:2566553 [GRCh38]
Chr12:2675719 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3209+19G>T single nucleotide variant Long QT syndrome [RCV002942008] Chr12:2606682 [GRCh38]
Chr12:2715848 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4215C>G (p.Ala1405=) single nucleotide variant Long QT syndrome [RCV003049300] Chr12:2655221 [GRCh38]
Chr12:2764387 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5570A>G (p.Glu1857Gly) single nucleotide variant Long QT syndrome [RCV003049063] Chr12:2682675 [GRCh38]
Chr12:2791841 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3906G>C (p.Glu1302Asp) single nucleotide variant Long QT syndrome [RCV002812085] Chr12:2634374 [GRCh38]
Chr12:2743540 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.142G>C (p.Ala48Pro) single nucleotide variant Long QT syndrome [RCV003087439] Chr12:2115316 [GRCh38]
Chr12:2224482 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1896-15_1896-13del microsatellite Long QT syndrome [RCV002646104] Chr12:2581572..2581574 [GRCh38]
Chr12:2690738..2690740 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4726+13G>T single nucleotide variant Long QT syndrome [RCV002629714] Chr12:2669048 [GRCh38]
Chr12:2778214 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3810C>T (p.Leu1270=) single nucleotide variant Long QT syndrome [RCV003046678] Chr12:2611995 [GRCh38]
Chr12:2721161 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6394A>C (p.Arg2132=) single nucleotide variant Long QT syndrome [RCV002647860] Chr12:2691176 [GRCh38]
Chr12:2800342 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.661G>A (p.Ala221Thr) single nucleotide variant Long QT syndrome [RCV002599943] Chr12:2457610 [GRCh38]
Chr12:2566776 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6294G>T (p.Val2098=) single nucleotide variant Long QT syndrome [RCV002833398] Chr12:2691076 [GRCh38]
Chr12:2800242 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1113+7A>C single nucleotide variant Long QT syndrome [RCV002600246] Chr12:2493393 [GRCh38]
Chr12:2602559 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5347G>A (p.Gly1783Ser) single nucleotide variant Long QT syndrome [RCV002938143] Chr12:2679699 [GRCh38]
Chr12:2788865 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6338A>T (p.Asp2113Val) single nucleotide variant Long QT syndrome [RCV003029281] Chr12:2691120 [GRCh38]
Chr12:2800286 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5176C>T (p.Arg1726Cys) single nucleotide variant Long QT syndrome [RCV003060213] Chr12:2679528 [GRCh38]
Chr12:2788694 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3981C>T (p.Phe1327=) single nucleotide variant Cardiovascular phenotype [RCV003274301]|Long QT syndrome [RCV002628885] Chr12:2651675 [GRCh38]
Chr12:2760841 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6391A>G (p.Ser2131Gly) single nucleotide variant Long QT syndrome [RCV002647484] Chr12:2691173 [GRCh38]
Chr12:2800339 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5320G>T (p.Ala1774Ser) single nucleotide variant Long QT syndrome [RCV003043806] Chr12:2679672 [GRCh38]
Chr12:2788838 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4140+20G>A single nucleotide variant Long QT syndrome [RCV002650587] Chr12:2653920 [GRCh38]
Chr12:2763086 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3558+4G>A single nucleotide variant Long QT syndrome [RCV003062400] Chr12:2608716 [GRCh38]
Chr12:2717882 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6022G>C (p.Ala2008Pro) single nucleotide variant Long QT syndrome [RCV003030616] Chr12:2688684 [GRCh38]
Chr12:2797850 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2574_2579del (p.858RP[1]) deletion Long QT syndrome [RCV003063753] Chr12:2593254..2593259 [GRCh38]
Chr12:2702420..2702425 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5520G>A (p.Lys1840=) single nucleotide variant Cardiovascular phenotype [RCV003167466]|Long QT syndrome [RCV002597973] Chr12:2682625 [GRCh38]
Chr12:2791791 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6019GCC[3] (p.Ala2008_Arg2009insAla) microsatellite Long QT syndrome [RCV003028639] Chr12:2688679..2688680 [GRCh38]
Chr12:2797845..2797846 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1528A>G (p.Asn510Asp) single nucleotide variant Long QT syndrome [RCV003087743] Chr12:2566441 [GRCh38]
Chr12:2675607 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5371G>A (p.Val1791Met) single nucleotide variant Long QT syndrome [RCV002647812] Chr12:2679723 [GRCh38]
Chr12:2788889 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4102G>A (p.Val1368Met) single nucleotide variant Long QT syndrome [RCV002601615] Chr12:2653862 [GRCh38]
Chr12:2763028 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2484C>T (p.Pro828=) single nucleotide variant Long QT syndrome [RCV002629484] Chr12:2585858 [GRCh38]
Chr12:2695024 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3049-14C>G single nucleotide variant Long QT syndrome [RCV002811072] Chr12:2605665 [GRCh38]
Chr12:2714831 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4140+12C>T single nucleotide variant Long QT syndrome [RCV002579339] Chr12:2653912 [GRCh38]
Chr12:2763078 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.714C>A (p.Ala238=) single nucleotide variant Long QT syndrome [RCV003046761] Chr12:2457663 [GRCh38]
Chr12:2566829 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1519C>T (p.Arg507Cys) single nucleotide variant Long QT syndrome [RCV002628382] Chr12:2566432 [GRCh38]
Chr12:2675598 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2047C>G (p.Gln683Glu) single nucleotide variant Long QT syndrome [RCV003088336] Chr12:2581741 [GRCh38]
Chr12:2690907 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6249C>T (p.Ser2083=) single nucleotide variant Long QT syndrome [RCV003089382] Chr12:2691031 [GRCh38]
Chr12:2800197 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2455A>C (p.Thr819Pro) single nucleotide variant Long QT syndrome [RCV002600029] Chr12:2585491 [GRCh38]
Chr12:2694657 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6228C>A (p.Ser2076Arg) single nucleotide variant Long QT syndrome [RCV002630143] Chr12:2691010 [GRCh38]
Chr12:2800176 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3873T>C (p.Val1291=) single nucleotide variant Long QT syndrome [RCV003031196] Chr12:2634341 [GRCh38]
Chr12:2743507 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4527-9C>G single nucleotide variant Long QT syndrome [RCV003044428] Chr12:2666677 [GRCh38]
Chr12:2775843 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3597G>A (p.Leu1199=) single nucleotide variant Long QT syndrome [RCV002577782] Chr12:2610579 [GRCh38]
Chr12:2719745 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1342_1343delinsCT (p.Asp448Leu) indel Long QT syndrome [RCV003044015] Chr12:2512936..2512937 [GRCh38]
Chr12:2622102..2622103 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5585A>G (p.Gln1862Arg) single nucleotide variant Long QT syndrome [RCV002810082] Chr12:2685747 [GRCh38]
Chr12:2794913 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5938A>G (p.Ser1980Gly) single nucleotide variant Long QT syndrome [RCV003091462]|not provided [RCV003151911] Chr12:2688600 [GRCh38]
Chr12:2797766 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4726+19A>G single nucleotide variant Long QT syndrome [RCV002650096] Chr12:2669054 [GRCh38]
Chr12:2778220 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.817C>T (p.Leu273=) single nucleotide variant Long QT syndrome [RCV003061470] Chr12:2486163 [GRCh38]
Chr12:2595329 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5623G>C (p.Asp1875His) single nucleotide variant Long QT syndrome [RCV002922181] Chr12:2685785 [GRCh38]
Chr12:2794951 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.152C>T (p.Ser51Leu) single nucleotide variant Long QT syndrome [RCV003086050] Chr12:2115326 [GRCh38]
Chr12:2224492 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3839G>T (p.Cys1280Phe) single nucleotide variant Long QT syndrome [RCV002966486] Chr12:2634307 [GRCh38]
Chr12:2743473 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5088C>T (p.Phe1696=) single nucleotide variant Long QT syndrome [RCV002833000] Chr12:2677864 [GRCh38]
Chr12:2787030 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5785-20C>T single nucleotide variant Long QT syndrome [RCV003065540] Chr12:2688427 [GRCh38]
Chr12:2797593 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5867C>A (p.Pro1956Gln) single nucleotide variant Long QT syndrome [RCV002895307] Chr12:2688529 [GRCh38]
Chr12:2797695 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6219G>C (p.Glu2073Asp) single nucleotide variant Long QT syndrome [RCV003046871] Chr12:2691001 [GRCh38]
Chr12:2800167 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.50-6C>T single nucleotide variant Long QT syndrome [RCV003069206] Chr12:2115218 [GRCh38]
Chr12:2224384 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6341C>A (p.Ala2114Glu) single nucleotide variant Long QT syndrome [RCV003050080] Chr12:2691123 [GRCh38]
Chr12:2800289 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4515C>T (p.Asp1505=) single nucleotide variant Long QT syndrome [RCV003066843] Chr12:2665697 [GRCh38]
Chr12:2774863 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5620G>A (p.Glu1874Lys) single nucleotide variant Long QT syndrome [RCV002635994] Chr12:2685782 [GRCh38]
Chr12:2794948 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3828+17G>A single nucleotide variant Long QT syndrome [RCV003092584] Chr12:2612030 [GRCh38]
Chr12:2721196 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.917-15T>C single nucleotide variant Long QT syndrome [RCV002582562] Chr12:2493175 [GRCh38]
Chr12:2602341 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2664-18G>A single nucleotide variant Long QT syndrome [RCV003068648] Chr12:2595856 [GRCh38]
Chr12:2705022 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5300_5314dup (p.Asn1771_Asn1772insIleAsnAsnAlaAsn) duplication Long QT syndrome [RCV002943797] Chr12:2679640..2679641 [GRCh38]
Chr12:2788806..2788807 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5844C>T (p.Phe1948=) single nucleotide variant Long QT syndrome [RCV003092761] Chr12:2688506 [GRCh38]
Chr12:2797672 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1508+19G>T single nucleotide variant Long QT syndrome [RCV002605305] Chr12:2556996 [GRCh38]
Chr12:2666162 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4726+15G>A single nucleotide variant Long QT syndrome [RCV003066670] Chr12:2669050 [GRCh38]
Chr12:2778216 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5190CAA[1] (p.Asn1731del) microsatellite Long QT syndrome [RCV002725755] Chr12:2679542..2679544 [GRCh38]
Chr12:2788708..2788710 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3996G>A (p.Arg1332=) single nucleotide variant Long QT syndrome [RCV003069001] Chr12:2651690 [GRCh38]
Chr12:2760856 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4048C>T (p.Leu1350=) single nucleotide variant Long QT syndrome [RCV003051529] Chr12:2651742 [GRCh38]
Chr12:2760908 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2987T>C (p.Ile996Thr) single nucleotide variant Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV002814353] Chr12:2605107 [GRCh38]
Chr12:2714273 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.930A>G (p.Glu310=) single nucleotide variant Long QT syndrome [RCV002586727] Chr12:2493203 [GRCh38]
Chr12:2602369 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6072C>A (p.Ala2024=) single nucleotide variant Long QT syndrome [RCV002586743] Chr12:2688734 [GRCh38]
Chr12:2797900 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2496G>A (p.Glu832=) single nucleotide variant Long QT syndrome [RCV002608428] Chr12:2585870 [GRCh38]
Chr12:2695036 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2531-13G>A single nucleotide variant Long QT syndrome [RCV003066365] Chr12:2593200 [GRCh38]
Chr12:2702366 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2850G>A (p.Leu950=) single nucleotide variant Long QT syndrome [RCV003051751] Chr12:2597286 [GRCh38]
Chr12:2706452 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1896-18C>T single nucleotide variant Long QT syndrome [RCV003071626] Chr12:2581572 [GRCh38]
Chr12:2690738 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3156+10G>T single nucleotide variant Long QT syndrome [RCV002814421] Chr12:2605796 [GRCh38]
Chr12:2714962 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.372-18C>T single nucleotide variant Long QT syndrome [RCV002726146] Chr12:2120307 [GRCh38]
Chr12:2229473 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1114-285A>G single nucleotide variant Long QT syndrome [RCV002605925] Chr12:2504557 [GRCh38]
Chr12:2613723 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5141G>T (p.Gly1714Val) single nucleotide variant Long QT syndrome [RCV002676739] Chr12:2679493 [GRCh38]
Chr12:2788659 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1670-13C>T single nucleotide variant Long QT syndrome [RCV003073368] Chr12:2567556 [GRCh38]
Chr12:2676722 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4533T>A (p.Arg1511=) single nucleotide variant Long QT syndrome [RCV002585507] Chr12:2666692 [GRCh38]
Chr12:2775858 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1896-20T>C single nucleotide variant Long QT syndrome [RCV003073435] Chr12:2581570 [GRCh38]
Chr12:2690736 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1218-14C>T single nucleotide variant Long QT syndrome [RCV003032069] Chr12:2512798 [GRCh38]
Chr12:2621964 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.478-17C>T single nucleotide variant Long QT syndrome [RCV003092306] Chr12:2448959 [GRCh38]
Chr12:2558125 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.543T>C (p.Tyr181=) single nucleotide variant Long QT syndrome [RCV003069881] Chr12:2449041 [GRCh38]
Chr12:2558207 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4623+16G>A single nucleotide variant Long QT syndrome [RCV003051488] Chr12:2666798 [GRCh38]
Chr12:2775964 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5769T>C (p.His1923=) single nucleotide variant Long QT syndrome [RCV003049807] Chr12:2686254 [GRCh38]
Chr12:2795420 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6201C>T (p.Cys2067=) single nucleotide variant Long QT syndrome [RCV002610865] Chr12:2690983 [GRCh38]
Chr12:2800149 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6168C>T (p.Ile2056=) single nucleotide variant Long QT syndrome [RCV002607282] Chr12:2690950 [GRCh38]
Chr12:2800116 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3913C>A (p.Pro1305Thr) single nucleotide variant Long QT syndrome [RCV002585144] Chr12:2648475 [GRCh38]
Chr12:2757641 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1114-422T>G single nucleotide variant Long QT syndrome [RCV003069657] Chr12:2504420 [GRCh38]
Chr12:2613586 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5445-4G>A single nucleotide variant Long QT syndrome [RCV002584031] Chr12:2682546 [GRCh38]
Chr12:2791712 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6252G>A (p.Gly2084=) single nucleotide variant Long QT syndrome [RCV003072097] Chr12:2691034 [GRCh38]
Chr12:2800200 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5716C>A (p.Arg1906=) single nucleotide variant Long QT syndrome [RCV003070034] Chr12:2686201 [GRCh38]
Chr12:2795367 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.618-12C>A single nucleotide variant Long QT syndrome [RCV002589684] Chr12:2457555 [GRCh38]
Chr12:2566721 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5162C>T (p.Thr1721Ile) single nucleotide variant Long QT syndrome [RCV002612208] Chr12:2679514 [GRCh38]
Chr12:2788680 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3356+20C>T single nucleotide variant Long QT syndrome [RCV003070843] Chr12:2607150 [GRCh38]
Chr12:2716316 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.345G>A (p.Arg115=) single nucleotide variant Long QT syndrome [RCV002721386] Chr12:2115519 [GRCh38]
Chr12:2224685 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1218-16C>G single nucleotide variant Long QT syndrome [RCV003050872] Chr12:2512796 [GRCh38]
Chr12:2621962 [GRCh37]
Chr12:12p13.33
likely benign
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_000719.7(CACNA1C):c.5294C>T (p.Ala1765Val) single nucleotide variant not provided [RCV003227423] Chr12:2679646 [GRCh38]
Chr12:2788812 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5839T>C (p.Ser1947Pro) single nucleotide variant Cardiovascular phenotype [RCV003177438] Chr12:2688501 [GRCh38]
Chr12:2797667 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4886G>A (p.Arg1629Gln) single nucleotide variant Cardiovascular phenotype [RCV003177439] Chr12:2677151 [GRCh38]
Chr12:2786317 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3771C>T (p.Leu1257=) single nucleotide variant Cardiovascular phenotype [RCV003177440] Chr12:2611956 [GRCh38]
Chr12:2721122 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5880C>T (p.Gly1960=) single nucleotide variant Cardiovascular phenotype [RCV003177441] Chr12:2688542 [GRCh38]
Chr12:2797708 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2721C>T (p.Leu907=) single nucleotide variant Cardiovascular phenotype [RCV003177431] Chr12:2595931 [GRCh38]
Chr12:2705097 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5410G>T (p.Val1804Leu) single nucleotide variant Cardiovascular phenotype [RCV003177432] Chr12:2679762 [GRCh38]
Chr12:2788928 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5817C>T (p.Leu1939=) single nucleotide variant Cardiovascular phenotype [RCV003177434] Chr12:2688479 [GRCh38]
Chr12:2797645 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3462C>A (p.Ala1154=) single nucleotide variant Cardiovascular phenotype [RCV003177442]|not provided [RCV003443178] Chr12:2608616 [GRCh38]
Chr12:2717782 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4191C>T (p.Asn1397=) single nucleotide variant Cardiovascular phenotype [RCV003177443] Chr12:2655197 [GRCh38]
Chr12:2764363 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6117+3A>G single nucleotide variant Cardiovascular phenotype [RCV003177444] Chr12:2688782 [GRCh38]
Chr12:2797948 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.121G>A (p.Glu41Lys) single nucleotide variant Cardiovascular phenotype [RCV003177445] Chr12:2115295 [GRCh38]
Chr12:2224461 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3524_3527del (p.Gln1175fs) deletion Cardiovascular phenotype [RCV003177446] Chr12:2608678..2608681 [GRCh38]
Chr12:2717844..2717847 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.2296C>A (p.Gln766Lys) single nucleotide variant not provided [RCV003228420] Chr12:2584574 [GRCh38]
Chr12:2693740 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1391-2480G>A single nucleotide variant not provided [RCV003222749] Chr12:2547463 [GRCh38]
Chr12:2656629 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1102G>A (p.Val368Met) single nucleotide variant not provided [RCV003225305] Chr12:2493375 [GRCh38]
Chr12:2602541 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5665C>A (p.Arg1889Ser) single nucleotide variant Cardiovascular phenotype [RCV003177435] Chr12:2685827 [GRCh38]
Chr12:2794993 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5654G>C (p.Arg1885Thr) single nucleotide variant Cardiovascular phenotype [RCV003177436] Chr12:2685816 [GRCh38]
Chr12:2794982 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6408C>T (p.Ser2136=) single nucleotide variant Cardiovascular phenotype [RCV003177437] Chr12:2691190 [GRCh38]
Chr12:2800356 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3020G>C (p.Arg1007Thr) single nucleotide variant not provided [RCV003143895] Chr12:2605140 [GRCh38]
Chr12:2714306 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.-2C>T single nucleotide variant Cardiovascular phenotype [RCV003294646]|not provided [RCV003143896] Chr12:2053561 [GRCh38]
Chr12:2162727 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2530+1G>A single nucleotide variant not provided [RCV003143897] Chr12:2585905 [GRCh38]
Chr12:2695071 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1407T>G (p.Ser469Arg) single nucleotide variant not provided [RCV003143898] Chr12:2549959 [GRCh38]
Chr12:2659125 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3502A>G (p.Thr1168Ala) single nucleotide variant Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003152848] Chr12:2608656 [GRCh38]
Chr12:2717822 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2114G>A (p.Gly705Glu) single nucleotide variant not provided [RCV003227143] Chr12:2582832 [GRCh38]
Chr12:2691998 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.5564C>T (p.Ser1855Phe) single nucleotide variant Cardiovascular phenotype [RCV003177433] Chr12:2682669 [GRCh38]
Chr12:2791835 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4100T>C (p.Ile1367Thr) single nucleotide variant not provided [RCV003321399] Chr12:2653860 [GRCh38]
Chr12:2763026 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.763C>T (p.Gln255Ter) single nucleotide variant Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies [RCV003324667] Chr12:2486109 [GRCh38]
Chr12:2595275 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.6359G>T (p.Arg2120Leu) single nucleotide variant not provided [RCV003319832] Chr12:2691141 [GRCh38]
Chr12:2800307 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.226G>C (p.Val76Leu) single nucleotide variant Cardiovascular phenotype [RCV003306813] Chr12:2115400 [GRCh38]
Chr12:2224566 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2175A>G (p.Pro725=) single nucleotide variant Cardiovascular phenotype [RCV003306815] Chr12:2582893 [GRCh38]
Chr12:2692059 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.619C>A (p.Leu207Ile) single nucleotide variant Cardiovascular phenotype [RCV003306816] Chr12:2457568 [GRCh38]
Chr12:2566734 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.127A>C (p.Ile43Leu) single nucleotide variant Cardiovascular phenotype [RCV003306817] Chr12:2115301 [GRCh38]
Chr12:2224467 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.728G>A (p.Arg243His) single nucleotide variant not provided [RCV003324909] Chr12:2457677 [GRCh38]
Chr12:2566843 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2322G>C (p.Glu774Asp) single nucleotide variant Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003322658] Chr12:2584600 [GRCh38]
Chr12:2693766 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2225-8A>C single nucleotide variant not provided [RCV003321285] Chr12:2584495 [GRCh38]
Chr12:2693661 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4233-1G>A single nucleotide variant Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003326222] Chr12:2664824 [GRCh38]
Chr12:2773990 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.2365G>C (p.Glu789Gln) single nucleotide variant Long qt syndrome 8 [RCV003337813] Chr12:2585401 [GRCh38]
Chr12:2694567 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33(chr12:2791716-2791844)x3 copy number gain not provided [RCV003398322] Chr12:2791716..2791844 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1084A>G (p.Met362Val) single nucleotide variant Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003329218] Chr12:2493357 [GRCh38]
Chr12:2602523 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1381C>T (p.Pro461Ser) single nucleotide variant Long qt syndrome 8 [RCV003338139] Chr12:2512975 [GRCh38]
Chr12:2622141 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6404T>A (p.Val2135Asp) single nucleotide variant Timothy syndrome [RCV003336597] Chr12:2691186 [GRCh38]
Chr12:2800352 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.477+100598G>A single nucleotide variant Timothy syndrome [RCV003336055] Chr12:2221028 [GRCh38]
Chr12:2330194 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2460+2T>G single nucleotide variant CACNA1C-Related Disorder [RCV003387615] Chr12:2585498 [GRCh38]
Chr12:2694664 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter) single nucleotide variant Timothy syndrome [RCV003387659] Chr12:2688546 [GRCh38]
Chr12:2797712 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.4004G>C (p.Arg1335Pro) single nucleotide variant not provided [RCV003387644] Chr12:2651698 [GRCh38]
Chr12:2760864 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2451C>G (p.Pro817=) single nucleotide variant Cardiovascular phenotype [RCV003358450] Chr12:2585487 [GRCh38]
Chr12:2694653 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1350G>A (p.Glu450=) single nucleotide variant Cardiovascular phenotype [RCV003358449] Chr12:2512944 [GRCh38]
Chr12:2622110 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1484A>G (p.His495Arg) single nucleotide variant Cardiovascular phenotype [RCV003360720] Chr12:2556953 [GRCh38]
Chr12:2666119 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6273T>G (p.Asn2091Lys) single nucleotide variant Cardiovascular phenotype [RCV003360721] Chr12:2691055 [GRCh38]
Chr12:2800221 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.4101C>T (p.Ile1367=) single nucleotide variant Cardiovascular phenotype [RCV003360723] Chr12:2653861 [GRCh38]
Chr12:2763027 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3913-18A>G single nucleotide variant not specified [RCV003331729] Chr12:2648457 [GRCh38]
Chr12:2757623 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.6303G>T (p.Arg2101Ser) single nucleotide variant Cardiovascular phenotype [RCV003360719] Chr12:2691085 [GRCh38]
Chr12:2800251 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2348G>A (p.Ser783Asn) single nucleotide variant Cardiovascular phenotype [RCV003360722] Chr12:2585384 [GRCh38]
Chr12:2694550 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2968G>C (p.Ala990Pro) single nucleotide variant Cardiovascular phenotype [RCV003360718] Chr12:2605088 [GRCh38]
Chr12:2714254 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.18G>T (p.Thr6=) single nucleotide variant not provided [RCV003396109] Chr12:2053580 [GRCh38]
Chr12:2162746 [GRCh37]
Chr12:12p13.33
likely benign
GRCh37/hg19 12p13.33(chr12:2775404-3044582)x3 copy number gain See cases [RCV003445448] Chr12:2775404..3044582 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1158dup (p.Thr387fs) duplication CACNA1C-Related Disorders [RCV003335878] Chr12:2504884..2504885 [GRCh38]
Chr12:2614050..2614051 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.304C>T (p.Arg102Ter) single nucleotide variant not provided [RCV003332877] Chr12:2115478 [GRCh38]
Chr12:2224644 [GRCh37]
Chr12:12p13.33
pathogenic
NM_000719.7(CACNA1C):c.1892C>T (p.Thr631Met) single nucleotide variant Long QT syndrome [RCV003875700] Chr12:2567791 [GRCh38]
Chr12:2676957 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2481G>C (p.Gln827His) single nucleotide variant Long QT syndrome [RCV003875605] Chr12:2585855 [GRCh38]
Chr12:2695021 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33(chr12:173787-2431561)x1 copy number loss not provided [RCV003483145] Chr12:173787..2431561 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2339+11A>C single nucleotide variant Long QT syndrome [RCV003873992] Chr12:2584628 [GRCh38]
Chr12:2693794 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3085A>G (p.Ile1029Val) single nucleotide variant Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003447775] Chr12:2605715 [GRCh38]
Chr12:2714881 [GRCh37]
Chr12:12p13.33
likely pathogenic
GRCh37/hg19 12p13.33(chr12:2315926-2674054)x3 copy number gain not provided [RCV003484862] Chr12:2315926..2674054 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3483C>G (p.Phe1161Leu) single nucleotide variant not provided [RCV003443683] Chr12:2608637 [GRCh38]
Chr12:2717803 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2794-3C>T single nucleotide variant not provided [RCV003443893] Chr12:2597227 [GRCh38]
Chr12:2706393 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5065G>T (p.Ala1689Ser) single nucleotide variant CACNA1C-related condition [RCV003404524] Chr12:2677841 [GRCh38]
Chr12:2787007 [GRCh37]
Chr12:12p13.33
uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1 copy number loss not provided [RCV003483146] Chr12:191243..5332596 [GRCh37]
Chr12:12p13.33-13.32
pathogenic
NM_000719.7(CACNA1C):c.5444+669G>A single nucleotide variant not provided [RCV003396110] Chr12:2680465 [GRCh38]
Chr12:2789631 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.3239A>T (p.Glu1080Val) single nucleotide variant Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003448641] Chr12:2607013 [GRCh38]
Chr12:2716179 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.59A>G (p.Tyr20Cys) single nucleotide variant CACNA1C-related condition [RCV003404289] Chr12:2115233 [GRCh38]
Chr12:2224399 [GRCh37]
Chr12:12p13.33
likely benign|uncertain significance
NM_000719.7(CACNA1C):c.4786A>C (p.Thr1596Pro) single nucleotide variant Long qt syndrome 8 [RCV003391169] Chr12:2674600 [GRCh38]
Chr12:2783766 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2905T>G (p.Phe969Val) single nucleotide variant CACNA1C-related condition [RCV003419011] Chr12:2601905 [GRCh38]
Chr12:2711071 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.823G>C (p.Val275Leu) single nucleotide variant not provided [RCV003443870] Chr12:2486169 [GRCh38]
Chr12:2595335 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3751A>G (p.Met1251Val) single nucleotide variant not provided [RCV003443872] Chr12:2611936 [GRCh38]
Chr12:2721102 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5246T>C (p.Val1749Ala) single nucleotide variant CACNA1C-related condition [RCV003391672] Chr12:2679598 [GRCh38]
Chr12:2788764 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6117+11C>T single nucleotide variant not provided [RCV003396111] Chr12:2688790 [GRCh38]
Chr12:2797956 [GRCh37]
Chr12:12p13.33
likely benign
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_000719.7(CACNA1C):c.3946-43del deletion CACNA1C-related condition [RCV003416928] Chr12:2651597 [GRCh38]
Chr12:2760763 [GRCh37]
Chr12:12p13.33
likely pathogenic
NM_000719.7(CACNA1C):c.4343G>A (p.Gly1448Asp) single nucleotide variant CACNA1C-related condition [RCV003404233] Chr12:2664935 [GRCh38]
Chr12:2774101 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.3946-59C>G single nucleotide variant CACNA1C-related condition [RCV003392977] Chr12:2651581 [GRCh38]
Chr12:2760747 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1604T>C (p.Phe535Ser) single nucleotide variant Hypertrophic cardiomyopathy [RCV003447692] Chr12:2566517 [GRCh38]
Chr12:2675683 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.5476_5490dup (p.Glu1830_Thr1831insAlaGlyGlnGluGlu) duplication not provided [RCV003443409] Chr12:2682579..2682580 [GRCh38]
Chr12:2791745..2791746 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.1276G>A (p.Glu426Lys) single nucleotide variant Brugada syndrome 3 [RCV003447811] Chr12:2512870 [GRCh38]
Chr12:2622036 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.6204C>A (p.Asp2068Glu) single nucleotide variant Long QT syndrome [RCV003647284] Chr12:2690986 [GRCh38]
Chr12:2800152 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.5304C>T (p.Asn1768=) single nucleotide variant Long QT syndrome [RCV003647322] Chr12:2679656 [GRCh38]
Chr12:2788822 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.371+20C>T single nucleotide variant Long QT syndrome [RCV003647379] Chr12:2115565 [GRCh38]
Chr12:2224731 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.1481+10C>A single nucleotide variant Long QT syndrome [RCV003824975] Chr12:2550043 [GRCh38]
Chr12:2659209 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.2649C>T (p.Phe883=) single nucleotide variant Long QT syndrome [RCV003647367] Chr12:2593331 [GRCh38]
Chr12:2702497 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.4071C>T (p.Phe1357=) single nucleotide variant Long QT syndrome [RCV003877808] Chr12:2651765 [GRCh38]
Chr12:2760931 [GRCh37]
Chr12:12p13.33
likely benign
NM_000719.7(CACNA1C):c.6202G>A (p.Asp2068Asn) single nucleotide variant Long QT syndrome [RCV003879091] Chr12:2690984 [GRCh38]
Chr12:2800150 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2723T>C (p.Phe908Ser) single nucleotide variant Long QT syndrome [RCV003876354] Chr12:2595933 [GRCh38]
Chr12:2705099 [GRCh37]
Chr12:12p13.33
uncertain significance
NM_000719.7(CACNA1C):c.2002C>T (p.Leu668=) single nucleotide variant Long QT syndrome [RCV003876959] Chr12:2581696 [GRCh38]
Chr12:2690862 [GRCh37]
Chr12:12p13.33
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9916
Count of miRNA genes:1338
Interacting mature miRNAs:1767
Transcripts:ENST00000327702, ENST00000335762, ENST00000344100, ENST00000347598, ENST00000399591, ENST00000399595, ENST00000399597, ENST00000399601, ENST00000399603, ENST00000399606, ENST00000399617, ENST00000399621, ENST00000399629, ENST00000399634, ENST00000399637, ENST00000399638, ENST00000399641, ENST00000399644, ENST00000399649, ENST00000399655, ENST00000402845, ENST00000406454, ENST00000465278, ENST00000465934, ENST00000480911, ENST00000483136, ENST00000491104, ENST00000492150, ENST00000496818, ENST00000543114
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D12S1694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,386,371 - 2,386,641UniSTSGRCh37
Build 36122,256,632 - 2,256,902RGDNCBI36
Celera124,001,137 - 4,001,407RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,244,486 - 2,244,738UniSTS
Marshfield Genetic Map123.33UniSTS
Marshfield Genetic Map123.33RGD
Genethon Genetic Map123.3UniSTS
deCODE Assembly Map124.76UniSTS
D12S1689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,335,257 - 2,335,367UniSTSGRCh37
Build 36122,205,518 - 2,205,628RGDNCBI36
Celera123,944,725 - 3,944,833RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,190,426 - 2,190,534UniSTS
Marshfield Genetic Map123.33RGD
Marshfield Genetic Map123.33UniSTS
Genethon Genetic Map123.3UniSTS
Whitehead-YAC Contig Map12 UniSTS
D12S1615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,770,379 - 2,770,591UniSTSGRCh37
Build 36122,640,640 - 2,640,852RGDNCBI36
Celera124,384,575 - 4,384,781RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,628,264 - 2,628,476UniSTS
Marshfield Genetic Map124.64RGD
Marshfield Genetic Map124.64UniSTS
Genethon Genetic Map124.6UniSTS
deCODE Assembly Map125.64UniSTS
Whitehead-YAC Contig Map12 UniSTS
GeneMap99-G3 RH Map12134.0UniSTS
D12S100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,176,561 - 2,176,679UniSTSGRCh37
GRCh37122,176,561 - 2,176,700UniSTSGRCh37
GRCh37122,176,583 - 2,176,724UniSTSGRCh37
Build 36122,046,822 - 2,046,940RGDNCBI36
Celera123,784,258 - 3,784,408UniSTS
Celera123,784,236 - 3,784,363RGD
Celera123,784,236 - 3,784,384UniSTS
Cytogenetic Map12p13.3UniSTS
HuRef122,030,630 - 2,030,781UniSTS
HuRef122,030,608 - 2,030,757UniSTS
HuRef122,030,608 - 2,030,736UniSTS
Marshfield Genetic Map123.33RGD
Genethon Genetic Map123.3UniSTS
deCODE Assembly Map124.76UniSTS
Stanford-G3 RH Map1297.0UniSTS
Whitehead-RH Map1239.9UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map1237.6UniSTS
GeneMap99-G3 RH Map1297.0UniSTS
WI-18742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,801,183 - 2,801,323UniSTSGRCh37
Build 36122,671,444 - 2,671,584RGDNCBI36
Celera124,415,756 - 4,415,896RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,658,635 - 2,658,775UniSTS
GeneMap99-GB4 RH Map1217.4UniSTS
Whitehead-RH Map1244.7UniSTS
NCBI RH Map1225.6UniSTS
D12S2044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,687,985 - 2,688,103UniSTSGRCh37
Build 36122,558,246 - 2,558,364RGDNCBI36
Celera124,302,192 - 4,302,310RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,545,885 - 2,546,003UniSTS
G30965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,603,027 - 2,603,173UniSTSGRCh37
Build 36122,473,288 - 2,473,434RGDNCBI36
Celera124,217,536 - 4,217,682RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,460,147 - 2,460,293UniSTS
D12S1076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,729,378 - 2,729,578UniSTSGRCh37
Build 36122,599,639 - 2,599,839RGDNCBI36
Celera124,343,574 - 4,343,773RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,587,271 - 2,587,470UniSTS
RH78411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,806,825 - 2,806,964UniSTSGRCh37
Build 36122,677,086 - 2,677,225RGDNCBI36
Celera124,421,398 - 4,421,537RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,664,276 - 2,664,415UniSTS
GeneMap99-GB4 RH Map1217.99UniSTS
NCBI RH Map1236.4UniSTS
G17659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,200,455 - 2,200,595UniSTSGRCh37
Build 36122,070,716 - 2,070,856RGDNCBI36
Celera123,808,144 - 3,808,284RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,054,660 - 2,054,800UniSTS
RH25054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,734,699 - 2,734,824UniSTSGRCh37
Build 36122,604,960 - 2,605,085RGDNCBI36
Celera124,348,894 - 4,349,019RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,592,591 - 2,592,716UniSTS
RH93423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,801,738 - 2,801,876UniSTSGRCh37
Build 36122,671,999 - 2,672,137RGDNCBI36
Celera124,416,311 - 4,416,449RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,659,190 - 2,659,328UniSTS
GeneMap99-GB4 RH Map1217.99UniSTS
G42621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,204,748 - 2,204,928UniSTSGRCh37
Build 36122,075,009 - 2,075,189RGDNCBI36
Celera123,812,437 - 3,812,617RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,058,953 - 2,059,133UniSTS
G42623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,581,511 - 2,581,646UniSTSGRCh37
Build 36122,451,772 - 2,451,907RGDNCBI36
Celera124,196,021 - 4,196,156RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,438,632 - 2,438,767UniSTS
G42624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,619,562 - 2,619,721UniSTSGRCh37
Build 36122,489,823 - 2,489,982RGDNCBI36
Celera124,234,071 - 4,234,230RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,476,678 - 2,476,837UniSTS
G42625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,601,432 - 2,601,574UniSTSGRCh37
Build 36122,471,693 - 2,471,835RGDNCBI36
Celera124,215,941 - 4,216,083RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,458,552 - 2,458,694UniSTS
G42626  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,742,236 - 2,742,443UniSTSGRCh37
Build 36122,612,497 - 2,612,704RGDNCBI36
Celera124,356,434 - 4,356,641RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,600,131 - 2,600,338UniSTS
RH102646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,729,087 - 2,729,229UniSTSGRCh37
Build 36122,599,348 - 2,599,490RGDNCBI36
Celera124,343,283 - 4,343,425RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,586,980 - 2,587,122UniSTS
GeneMap99-GB4 RH Map1218.9UniSTS
SHGC-83797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,492,759 - 2,493,099UniSTSGRCh37
Build 36122,363,020 - 2,363,360RGDNCBI36
Celera124,107,370 - 4,107,710RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,350,839 - 2,351,179UniSTS
TNG Radiation Hybrid Map121026.0UniSTS
RH121301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,642,975 - 2,643,259UniSTSGRCh37
Build 36122,513,236 - 2,513,520RGDNCBI36
Celera124,257,331 - 4,257,615RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,499,887 - 2,500,171UniSTS
TNG Radiation Hybrid Map121055.0UniSTS
D12S381E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,371,859 - 2,372,074UniSTSGRCh37
Build 36122,242,120 - 2,242,335RGDNCBI36
Celera123,986,625 - 3,986,840RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,229,974 - 2,230,189UniSTS
D12S1108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,427,227 - 2,427,424UniSTSGRCh37
Build 36122,297,488 - 2,297,685RGDNCBI36
Celera124,041,838 - 4,042,035RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,285,324 - 2,285,521UniSTS
D12S1116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,470,150 - 2,470,289UniSTSGRCh37
Build 36122,340,411 - 2,340,550RGDNCBI36
Celera124,084,759 - 4,084,898RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,328,240 - 2,328,379UniSTS
GDB:214834  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,717,569 - 2,717,887UniSTSGRCh37
Build 36122,587,830 - 2,588,148RGDNCBI36
Celera124,331,764 - 4,332,082RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,575,461 - 2,575,779UniSTS
SHGC-30605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,806,969 - 2,807,096UniSTSGRCh37
Build 36122,677,230 - 2,677,357RGDNCBI36
Celera124,421,542 - 4,421,669RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,664,420 - 2,664,547UniSTS
TNG Radiation Hybrid Map121128.0UniSTS
SHGC-106399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,310,387 - 2,310,711UniSTSGRCh37
Build 36122,180,648 - 2,180,972RGDNCBI36
Celera123,917,937 - 3,918,261RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,164,229 - 2,164,553UniSTS
TNG Radiation Hybrid Map12957.0UniSTS
SHGC-132840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,176,564 - 2,176,698UniSTSGRCh37
Build 36122,046,825 - 2,046,959RGDNCBI36
Celera123,784,239 - 3,784,382RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,030,611 - 2,030,755UniSTS
TNG Radiation Hybrid Map12884.0UniSTS
TNG Radiation Hybrid Map12896.0UniSTS
TNG Radiation Hybrid Map348185.0UniSTS
SHGC-151138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,386,359 - 2,386,480UniSTSGRCh37
Build 36122,256,620 - 2,256,741RGDNCBI36
Celera124,001,125 - 4,001,246RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,244,474 - 2,244,595UniSTS
TNG Radiation Hybrid Map12976.0UniSTS
SHGC-150871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,770,406 - 2,770,708UniSTSGRCh37
Build 36122,640,667 - 2,640,969RGDNCBI36
Celera124,384,602 - 4,384,898RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,628,291 - 2,628,593UniSTS
TNG Radiation Hybrid Map121109.0UniSTS
TNG Radiation Hybrid Map1735639.0UniSTS
SHGC-152191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,386,391 - 2,386,571UniSTSGRCh37
GRCh37122,386,391 - 2,386,551UniSTSGRCh37
GRCh37122,386,391 - 2,386,593UniSTSGRCh37
Build 36122,256,652 - 2,256,832RGDNCBI36
Celera124,001,157 - 4,001,317UniSTS
Celera124,001,157 - 4,001,359UniSTS
Celera124,001,157 - 4,001,337RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,244,506 - 2,244,690UniSTS
HuRef122,244,506 - 2,244,662UniSTS
HuRef122,244,506 - 2,244,682UniSTS
HuRef122,244,506 - 2,244,680UniSTS
TNG Radiation Hybrid Map25192.0UniSTS
STS-H29303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,609,893 - 2,610,035UniSTSGRCh37
Build 36122,480,154 - 2,480,296RGDNCBI36
Celera124,224,402 - 4,224,544RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,467,013 - 2,467,155UniSTS
GeneMap99-GB4 RH Map1218.9UniSTS
RH44799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,732,305 - 2,732,405UniSTSGRCh37
Build 36122,602,566 - 2,602,666RGDNCBI36
Celera124,346,500 - 4,346,600RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,590,197 - 2,590,297UniSTS
GeneMap99-GB4 RH Map1218.9UniSTS
RH44512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,805,573 - 2,805,696UniSTSGRCh37
Build 36122,675,834 - 2,675,957RGDNCBI36
Celera124,420,146 - 4,420,269RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,663,024 - 2,663,147UniSTS
GeneMap99-GB4 RH Map1217.9UniSTS
D12S1096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,592,792 - 2,592,915UniSTSGRCh37
Build 36122,463,053 - 2,463,176RGDNCBI36
Celera124,207,303 - 4,207,426RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,449,914 - 2,450,037UniSTS
D12S1443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,685,951 - 2,686,125UniSTSGRCh37
Build 36122,556,212 - 2,556,386RGDNCBI36
Celera124,300,159 - 4,300,333RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,543,852 - 2,544,026UniSTS
Whitehead-RH Map1247.1UniSTS
D12S2049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,695,113 - 2,695,208UniSTSGRCh37
Build 36122,565,374 - 2,565,469RGDNCBI36
Celera124,309,320 - 4,309,415RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,553,013 - 2,553,108UniSTS
SHGC-57441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,271,369 - 2,271,519UniSTSGRCh37
Build 36122,141,630 - 2,141,780RGDNCBI36
Celera123,878,921 - 3,879,071RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,125,203 - 2,125,353UniSTS
TNG Radiation Hybrid Map12941.0UniSTS
D12S1094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,228,260 - 2,228,430UniSTSGRCh37
Build 36122,098,521 - 2,098,691RGDNCBI36
Celera123,835,631 - 3,835,801RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,082,488 - 2,082,658UniSTS
G19668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,805,480 - 2,805,663UniSTSGRCh37
Build 36122,675,741 - 2,675,924RGDNCBI36
Celera124,420,053 - 4,420,236RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,662,931 - 2,663,114UniSTS
A001U36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,805,480 - 2,805,663UniSTSGRCh37
Build 36122,675,741 - 2,675,924RGDNCBI36
Celera124,420,053 - 4,420,236RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,662,931 - 2,663,114UniSTS
GeneMap99-GB4 RH Map1218.9UniSTS
NCBI RH Map1236.4UniSTS
D12S2051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,413,694 - 2,413,834UniSTSGRCh37
Build 36122,283,955 - 2,284,095RGDNCBI36
Celera124,028,305 - 4,028,445RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,271,791 - 2,271,931UniSTS
D12S1113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,231,537 - 2,231,682UniSTSGRCh37
Build 36122,101,798 - 2,101,943RGDNCBI36
Celera123,838,908 - 3,839,053RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,085,767 - 2,085,912UniSTS
D12S1117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,218,171 - 2,218,306UniSTSGRCh37
Build 36122,088,432 - 2,088,567RGDNCBI36
Celera123,825,541 - 3,825,676RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,072,376 - 2,072,511UniSTS
G41239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,766,537 - 2,766,725UniSTSGRCh37
Build 36122,636,798 - 2,636,986RGDNCBI36
Celera124,380,733 - 4,380,921RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,624,422 - 2,624,610UniSTS
SHGC-6998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,711,703 - 2,711,918UniSTSGRCh37
Build 36122,581,964 - 2,582,179RGDNCBI36
Celera124,325,908 - 4,326,113RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,569,601 - 2,569,810UniSTS
Stanford-G3 RH Map12101.0UniSTS
NCBI RH Map1239.4UniSTS
GeneMap99-G3 RH Map12101.0UniSTS
SHGC-37464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,756,072 - 2,756,221UniSTSGRCh37
Build 36122,626,333 - 2,626,482RGDNCBI36
Celera124,370,268 - 4,370,417RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,613,958 - 2,614,107UniSTS
Stanford-G3 RH Map12134.0UniSTS
GeneMap99-G3 RH Map12134.0UniSTS
D12S1092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,631,410 - 2,631,505UniSTSGRCh37
Build 36122,501,671 - 2,501,766RGDNCBI36
Celera124,245,766 - 4,245,861RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,488,322 - 2,488,417UniSTS
RH48669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,260,299 - 2,260,468UniSTSGRCh37
Build 36122,130,560 - 2,130,729RGDNCBI36
Celera123,867,851 - 3,868,020RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,114,133 - 2,114,302UniSTS
GeneMap99-GB4 RH Map1217.9UniSTS
WI-3910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,641,774 - 2,641,875UniSTSGRCh37
Build 36122,512,035 - 2,512,136RGDNCBI36
Celera124,256,130 - 4,256,231RGD
Cytogenetic Map12p13.3UniSTS
HuRef122,498,686 - 2,498,787UniSTS
Whitehead-RH Map1245.0UniSTS
RH27134  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12p13.3UniSTS
HuRef122,663,352 - 2,663,533UniSTS
AF045313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,303,342 - 2,304,100UniSTSGRCh37
Celera123,910,892 - 3,911,650UniSTS
HuRef122,157,184 - 2,157,942UniSTS
UniSTS:485794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,852,546 - 2,853,116UniSTSGRCh37
GRCh37122,804,313 - 2,804,887UniSTSGRCh37
Celera124,466,173 - 4,466,746UniSTS
Celera124,418,886 - 4,419,460UniSTS
HuRef122,709,230 - 2,709,801UniSTS
HuRef122,661,764 - 2,662,338UniSTS
D12S100  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12p13.3UniSTS
Marshfield Genetic Map123.33UniSTS
Genethon Genetic Map123.3UniSTS
deCODE Assembly Map124.76UniSTS
Whitehead-RH Map1239.9UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map1231.0UniSTS
D12S100  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12p13.3UniSTS
D12S1392E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12p13.3UniSTS
GeneMap99-GB4 RH Map1217.9UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1495 1694 38 41 677 1016 112 16 288 94 32 642
Low 826 525 1286 261 529 111 3034 746 3514 273 1026 1325 152 1170 1725 1
Below cutoff 67 761 372 341 959 331 610 419 87 102 68 79 16 1 2 421 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC275559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF465484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ224873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ536834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ537510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY129012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY562395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY562396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY604867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY830711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY830712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY830713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ187986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ187987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L04568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M61130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M91370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M92269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z26257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z26294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z26295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z26308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z74996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000327702   ⟹   ENSP00000329877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,052,987 - 2,697,950 (+)Ensembl
RefSeq Acc Id: ENST00000335762   ⟹   ENSP00000336982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,008 - 2,691,563 (+)Ensembl
RefSeq Acc Id: ENST00000344100   ⟹   ENSP00000341092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,563 - 2,691,293 (+)Ensembl
RefSeq Acc Id: ENST00000347598   ⟹   ENSP00000266376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,052,987 - 2,697,950 (+)Ensembl
RefSeq Acc Id: ENST00000399591   ⟹   ENSP00000382500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,563 - 2,691,293 (+)Ensembl
RefSeq Acc Id: ENST00000399595   ⟹   ENSP00000382504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,563 - 2,691,293 (+)Ensembl
RefSeq Acc Id: ENST00000399597   ⟹   ENSP00000382506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,563 - 2,691,293 (+)Ensembl
RefSeq Acc Id: ENST00000399601   ⟹   ENSP00000382510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,563 - 2,691,293 (+)Ensembl
RefSeq Acc Id: ENST00000399603   ⟹   ENSP00000382512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,052,987 - 2,697,950 (+)Ensembl
RefSeq Acc Id: ENST00000399606   ⟹   ENSP00000382515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,563 - 2,691,293 (+)Ensembl
RefSeq Acc Id: ENST00000399617   ⟹   ENSP00000382526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,326 - 2,692,159 (+)Ensembl
RefSeq Acc Id: ENST00000399621   ⟹   ENSP00000382530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,563 - 2,691,293 (+)Ensembl
RefSeq Acc Id: ENST00000399629   ⟹   ENSP00000382537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,563 - 2,691,293 (+)Ensembl
RefSeq Acc Id: ENST00000399634   ⟹   ENSP00000382542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,052,987 - 2,692,159 (+)Ensembl
RefSeq Acc Id: ENST00000399637   ⟹   ENSP00000382546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,563 - 2,691,293 (+)Ensembl
RefSeq Acc Id: ENST00000399638   ⟹   ENSP00000382547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,563 - 2,691,293 (+)Ensembl
RefSeq Acc Id: ENST00000399641   ⟹   ENSP00000382549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,052,987 - 2,697,950 (+)Ensembl
RefSeq Acc Id: ENST00000399644   ⟹   ENSP00000382552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,563 - 2,691,293 (+)Ensembl
RefSeq Acc Id: ENST00000399649   ⟹   ENSP00000382557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,563 - 2,691,293 (+)Ensembl
RefSeq Acc Id: ENST00000399655   ⟹   ENSP00000382563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,052,987 - 2,697,950 (+)Ensembl
RefSeq Acc Id: ENST00000402845   ⟹   ENSP00000385724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,563 - 2,691,293 (+)Ensembl
RefSeq Acc Id: ENST00000406454   ⟹   ENSP00000385896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,052,987 - 2,692,159 (+)Ensembl
RefSeq Acc Id: ENST00000465278   ⟹   ENSP00000478996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,566,422 - 2,597,081 (+)Ensembl
RefSeq Acc Id: ENST00000465934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,666,616 - 2,677,813 (+)Ensembl
RefSeq Acc Id: ENST00000480911   ⟹   ENSP00000437936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,538 - 2,614,971 (+)Ensembl
RefSeq Acc Id: ENST00000483136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,641,458 - 2,651,747 (+)Ensembl
RefSeq Acc Id: ENST00000491104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,504,436 - 2,566,582 (+)Ensembl
RefSeq Acc Id: ENST00000492150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,651,485 - 2,655,193 (+)Ensembl
RefSeq Acc Id: ENST00000496818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,607,880 - 2,644,488 (+)Ensembl
RefSeq Acc Id: ENST00000541871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,048,352 - 2,049,463 (+)Ensembl
RefSeq Acc Id: ENST00000543114   ⟹   ENSP00000445849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,970,786 - 2,115,384 (+)Ensembl
RefSeq Acc Id: ENST00000616390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,641,467 - 2,691,267 (+)Ensembl
RefSeq Acc Id: ENST00000672806   ⟹   ENSP00000500218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,337 - 2,608,562 (+)Ensembl
RefSeq Acc Id: ENST00000673589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,285 - 2,121,127 (+)Ensembl
RefSeq Acc Id: ENST00000682152   ⟹   ENSP00000506759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,115,224 - 2,493,386 (+)Ensembl
RefSeq Acc Id: ENST00000682320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,650,306 - 2,678,460 (+)Ensembl
RefSeq Acc Id: ENST00000682336   ⟹   ENSP00000507898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,563 - 2,691,199 (+)Ensembl
RefSeq Acc Id: ENST00000682343   ⟹   ENSP00000507888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,448,976 - 2,550,033 (+)Ensembl
RefSeq Acc Id: ENST00000682462   ⟹   ENSP00000507105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,970,875 - 2,691,563 (+)Ensembl
RefSeq Acc Id: ENST00000682544   ⟹   ENSP00000507184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,970,772 - 2,691,199 (+)Ensembl
RefSeq Acc Id: ENST00000682686   ⟹   ENSP00000507309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,563 - 2,691,293 (+)Ensembl
RefSeq Acc Id: ENST00000682835   ⟹   ENSP00000507282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,016 - 2,692,776 (+)Ensembl
RefSeq Acc Id: ENST00000682867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,049,200 - 2,273,337 (+)Ensembl
RefSeq Acc Id: ENST00000683482   ⟹   ENSP00000507169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,053,435 - 2,691,552 (+)Ensembl
RefSeq Acc Id: ENST00000683781   ⟹   ENSP00000507434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,970,875 - 2,691,254 (+)Ensembl
RefSeq Acc Id: ENST00000683824   ⟹   ENSP00000507867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,971,063 - 2,691,199 (+)Ensembl
RefSeq Acc Id: ENST00000683840   ⟹   ENSP00000507612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,971,047 - 2,691,229 (+)Ensembl
RefSeq Acc Id: ENST00000683956   ⟹   ENSP00000506882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,971,047 - 2,691,229 (+)Ensembl
RefSeq Acc Id: ENST00000684233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,681,981 - 2,687,090 (+)Ensembl
RefSeq Acc Id: ENST00000684317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,650,320 - 2,652,371 (+)Ensembl
RefSeq Acc Id: ENST00000684467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,641,461 - 2,691,295 (+)Ensembl
RefSeq Acc Id: ENST00000684752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,677,136 - 2,686,691 (+)Ensembl
RefSeq Acc Id: NM_000719   ⟹   NP_000710
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
Build 36122,032,725 - 2,677,376 (+)NCBI Archive
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129827   ⟹   NP_001123299
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129829   ⟹   NP_001123301
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129830   ⟹   NP_001123302
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,443 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129831   ⟹   NP_001123303
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129832   ⟹   NP_001123304
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129833   ⟹   NP_001123305
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129834   ⟹   NP_001123306
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129835   ⟹   NP_001123307
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129836   ⟹   NP_001123308
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129837   ⟹   NP_001123309
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129838   ⟹   NP_001123310
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129839   ⟹   NP_001123311
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129840   ⟹   NP_001123312
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129841   ⟹   NP_001123313
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129842   ⟹   NP_001123314
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129843   ⟹   NP_001123315
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129844   ⟹   NP_001123316
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001129846   ⟹   NP_001123318
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001167623   ⟹   NP_001161095
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001167624   ⟹   NP_001161096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,443 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001167625   ⟹   NP_001161097
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,408 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_199460   ⟹   NP_955630
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
GRCh37122,079,952 - 2,807,115 (+)NCBI
HuRef122,016,425 - 2,664,566 (+)ENTREZGENE
CHM1_1122,161,443 - 2,806,152 (+)NCBI
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719017   ⟹   XP_006719080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521020   ⟹   XP_011519322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521023   ⟹   XP_011519325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,987 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019926   ⟹   XP_016875415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019927   ⟹   XP_016875416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019928   ⟹   XP_016875417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019929   ⟹   XP_016875418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019930   ⟹   XP_016875419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019931   ⟹   XP_016875420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019932   ⟹   XP_016875421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019933   ⟹   XP_016875422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019934   ⟹   XP_016875423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019935   ⟹   XP_016875424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019939   ⟹   XP_016875428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019943   ⟹   XP_016875432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019944   ⟹   XP_016875433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019945   ⟹   XP_016875434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019946   ⟹   XP_016875435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019947   ⟹   XP_016875436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019948   ⟹   XP_016875437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019949   ⟹   XP_016875438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019950   ⟹   XP_016875439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019953   ⟹   XP_016875442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019954   ⟹   XP_016875443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019955   ⟹   XP_016875444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047429513   ⟹   XP_047285469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
RefSeq Acc Id: XM_047429514   ⟹   XP_047285470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
RefSeq Acc Id: XM_047429515   ⟹   XP_047285471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
RefSeq Acc Id: XM_047429516   ⟹   XP_047285472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
RefSeq Acc Id: XM_047429517   ⟹   XP_047285473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
RefSeq Acc Id: XM_047429518   ⟹   XP_047285474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
RefSeq Acc Id: XM_047429519   ⟹   XP_047285475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 2,697,950 (+)NCBI
RefSeq Acc Id: XM_047429520   ⟹   XP_047285476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,419,333 - 2,697,950 (+)NCBI
RefSeq Acc Id: XM_054373150   ⟹   XP_054229125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373151   ⟹   XP_054229126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373152   ⟹   XP_054229127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373153   ⟹   XP_054229128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373154   ⟹   XP_054229129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373155   ⟹   XP_054229130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373156   ⟹   XP_054229131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373157   ⟹   XP_054229132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373158   ⟹   XP_054229133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373159   ⟹   XP_054229134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373160   ⟹   XP_054229135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373161   ⟹   XP_054229136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373162   ⟹   XP_054229137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373163   ⟹   XP_054229138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373164   ⟹   XP_054229139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373165   ⟹   XP_054229140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373166   ⟹   XP_054229141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373167   ⟹   XP_054229142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373168   ⟹   XP_054229143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373169   ⟹   XP_054229144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373170   ⟹   XP_054229145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373171   ⟹   XP_054229146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373172   ⟹   XP_054229147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373173   ⟹   XP_054229148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373174   ⟹   XP_054229149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373175   ⟹   XP_054229150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373176   ⟹   XP_054229151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0122,420,413 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373177   ⟹   XP_054229152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373178   ⟹   XP_054229153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373179   ⟹   XP_054229154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373180   ⟹   XP_054229155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373181   ⟹   XP_054229156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,965,666 - 2,703,402 (+)NCBI
RefSeq Acc Id: XM_054373182   ⟹   XP_054229157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0122,049,113 - 2,703,402 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000710 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123299 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123301 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123302 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123303 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123304 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123305 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123306 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123307 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123308 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123309 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123310 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123311 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123312 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123313 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123314 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123315 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123316 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123318 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161095 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161096 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161097 (Get FASTA)   NCBI Sequence Viewer  
  NP_955630 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719080 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519322 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519325 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875415 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875416 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875417 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875418 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875419 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875420 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875421 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875422 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875423 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875424 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875428 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875432 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875433 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875434 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875435 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875436 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875437 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875438 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875439 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875442 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875443 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875444 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285469 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285470 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285471 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285472 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285473 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285474 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285475 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285476 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188261 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188262 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188263 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188264 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188265 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188266 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188267 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188268 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188269 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188270 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188271 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188272 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188273 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188274 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188275 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188276 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188277 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188278 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188279 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188280 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188281 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188282 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188283 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188284 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188285 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188286 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188287 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188288 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188289 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188290 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188291 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188292 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188293 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229125 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229126 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229127 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229128 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229129 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229130 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229131 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229132 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229133 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229134 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229135 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229136 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229137 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229138 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229139 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229140 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229141 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229142 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229143 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229144 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229145 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229146 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229147 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229148 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229149 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229150 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229151 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229152 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229153 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229154 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229155 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229156 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229157 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA02500 (Get FASTA)   NCBI Sequence Viewer  
  AAA17030 (Get FASTA)   NCBI Sequence Viewer  
  AAA51899 (Get FASTA)   NCBI Sequence Viewer  
  AAA51900 (Get FASTA)   NCBI Sequence Viewer  
  AAA51901 (Get FASTA)   NCBI Sequence Viewer  
  AAA58409 (Get FASTA)   NCBI Sequence Viewer  
  AAA62832 (Get FASTA)   NCBI Sequence Viewer  
  AAA74590 (Get FASTA)   NCBI Sequence Viewer  
  AAB59461 (Get FASTA)   NCBI Sequence Viewer  
  AAC28649 (Get FASTA)   NCBI Sequence Viewer  
  AAH93695 (Get FASTA)   NCBI Sequence Viewer  
  AAI46847 (Get FASTA)   NCBI Sequence Viewer  
  AAM70049 (Get FASTA)   NCBI Sequence Viewer  
  AAM98755 (Get FASTA)   NCBI Sequence Viewer  
  AAT02226 (Get FASTA)   NCBI Sequence Viewer  
  AAT67986 (Get FASTA)   NCBI Sequence Viewer  
  AAT67987 (Get FASTA)   NCBI Sequence Viewer  
  AAX37354 (Get FASTA)   NCBI Sequence Viewer  
  AAX37355 (Get FASTA)   NCBI Sequence Viewer  
  AAX37356 (Get FASTA)   NCBI Sequence Viewer  
  ABA29771 (Get FASTA)   NCBI Sequence Viewer  
  ABA29772 (Get FASTA)   NCBI Sequence Viewer  
  ABA29773 (Get FASTA)   NCBI Sequence Viewer  
  ABA29774 (Get FASTA)   NCBI Sequence Viewer  
  BAD92253 (Get FASTA)   NCBI Sequence Viewer  
  BAH13781 (Get FASTA)   NCBI Sequence Viewer  
  CAA12174 (Get FASTA)   NCBI Sequence Viewer  
  CAA81218 (Get FASTA)   NCBI Sequence Viewer  
  CAA81219 (Get FASTA)   NCBI Sequence Viewer  
  CAA84340 (Get FASTA)   NCBI Sequence Viewer  
  CAA84341 (Get FASTA)   NCBI Sequence Viewer  
  CAA84342 (Get FASTA)   NCBI Sequence Viewer  
  CAA84343 (Get FASTA)   NCBI Sequence Viewer  
  CAA84344 (Get FASTA)   NCBI Sequence Viewer  
  CAA84345 (Get FASTA)   NCBI Sequence Viewer  
  CAA84346 (Get FASTA)   NCBI Sequence Viewer  
  CAA84347 (Get FASTA)   NCBI Sequence Viewer  
  CAA84348 (Get FASTA)   NCBI Sequence Viewer  
  CAA84349 (Get FASTA)   NCBI Sequence Viewer  
  CAA84350 (Get FASTA)   NCBI Sequence Viewer  
  CAA84351 (Get FASTA)   NCBI Sequence Viewer  
  CAA84352 (Get FASTA)   NCBI Sequence Viewer  
  CAA84353 (Get FASTA)   NCBI Sequence Viewer  
  CAA99284 (Get FASTA)   NCBI Sequence Viewer  
  CAD61168 (Get FASTA)   NCBI Sequence Viewer  
  CAD61169 (Get FASTA)   NCBI Sequence Viewer  
  EAW88895 (Get FASTA)   NCBI Sequence Viewer  
  EAW88896 (Get FASTA)   NCBI Sequence Viewer  
  EAW88897 (Get FASTA)   NCBI Sequence Viewer  
  EAW88898 (Get FASTA)   NCBI Sequence Viewer  
  EAW88899 (Get FASTA)   NCBI Sequence Viewer  
  EAW88900 (Get FASTA)   NCBI Sequence Viewer  
  EAW88901 (Get FASTA)   NCBI Sequence Viewer  
  EAW88902 (Get FASTA)   NCBI Sequence Viewer  
  EAW88903 (Get FASTA)   NCBI Sequence Viewer  
  EAW88904 (Get FASTA)   NCBI Sequence Viewer  
  EAW88905 (Get FASTA)   NCBI Sequence Viewer  
  EAW88906 (Get FASTA)   NCBI Sequence Viewer  
  EAW88907 (Get FASTA)   NCBI Sequence Viewer  
  EAW88908 (Get FASTA)   NCBI Sequence Viewer  
  EAW88909 (Get FASTA)   NCBI Sequence Viewer  
  EAW88910 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000266376
  ENSP00000266376.6
  ENSP00000329877
  ENSP00000329877.7
  ENSP00000336982
  ENSP00000336982.5
  ENSP00000341092
  ENSP00000341092.3
  ENSP00000382500
  ENSP00000382500.1
  ENSP00000382504
  ENSP00000382504.1
  ENSP00000382506
  ENSP00000382506.1
  ENSP00000382510
  ENSP00000382510.1
  ENSP00000382512
  ENSP00000382512.1
  ENSP00000382515
  ENSP00000382515.1
  ENSP00000382526
  ENSP00000382526.1
  ENSP00000382530
  ENSP00000382530.1
  ENSP00000382537
  ENSP00000382537.1
  ENSP00000382542
  ENSP00000382542.2
  ENSP00000382546
  ENSP00000382546.1
  ENSP00000382547
  ENSP00000382547.1
  ENSP00000382549
  ENSP00000382549.1
  ENSP00000382552
  ENSP00000382552.1
  ENSP00000382557
  ENSP00000382557.1
  ENSP00000382563
  ENSP00000382563.1
  ENSP00000385724
  ENSP00000385724.3
  ENSP00000385896.3
  ENSP00000437936.2
  ENSP00000478996.2
  ENSP00000493573.1
  ENSP00000493781.1
  ENSP00000493890.1
  ENSP00000494018.1
  ENSP00000494058.1
  ENSP00000494095.1
  ENSP00000494420.1
  ENSP00000494765.1
  ENSP00000494782.1
  ENSP00000494999.1
  ENSP00000495080.1
  ENSP00000495576.1
  ENSP00000495678.1
  ENSP00000496049.1
  ENSP00000496458.1
  ENSP00000496681.1
  ENSP00000496749.1
  ENSP00000500218.1
  ENSP00000506759.1
  ENSP00000506882
  ENSP00000506882.1
  ENSP00000507105
  ENSP00000507105.1
  ENSP00000507169
  ENSP00000507169.1
  ENSP00000507184
  ENSP00000507184.1
  ENSP00000507282.1
  ENSP00000507309
  ENSP00000507309.1
  ENSP00000507349.1
  ENSP00000507434
  ENSP00000507434.1
  ENSP00000507612
  ENSP00000507612.1
  ENSP00000507867
  ENSP00000507867.1
  ENSP00000507898.1
  ENSP00000518305.1
  ENSP00000518307.1
  ENSP00000518369.1
GenBank Protein Q13936 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001161095   ⟸   NM_001167623
- Peptide Label: isoform 21
- UniProtKB: A0A804HIZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161096   ⟸   NM_001167624
- Peptide Label: isoform 22
- UniProtKB: Q4VMI9 (UniProtKB/Swiss-Prot),   Q4VMI8 (UniProtKB/Swiss-Prot),   Q4VMI7 (UniProtKB/Swiss-Prot),   Q15877 (UniProtKB/Swiss-Prot),   Q14744 (UniProtKB/Swiss-Prot),   Q14743 (UniProtKB/Swiss-Prot),   Q13933 (UniProtKB/Swiss-Prot),   Q13932 (UniProtKB/Swiss-Prot),   Q13930 (UniProtKB/Swiss-Prot),   Q13929 (UniProtKB/Swiss-Prot),   Q13928 (UniProtKB/Swiss-Prot),   Q13927 (UniProtKB/Swiss-Prot),   Q13926 (UniProtKB/Swiss-Prot),   Q13925 (UniProtKB/Swiss-Prot),   Q13924 (UniProtKB/Swiss-Prot),   Q13923 (UniProtKB/Swiss-Prot),   Q13922 (UniProtKB/Swiss-Prot),   Q13921 (UniProtKB/Swiss-Prot),   Q13920 (UniProtKB/Swiss-Prot),   Q13919 (UniProtKB/Swiss-Prot),   Q13918 (UniProtKB/Swiss-Prot),   Q13917 (UniProtKB/Swiss-Prot),   E9PDJ0 (UniProtKB/Swiss-Prot),   B2RUT3 (UniProtKB/Swiss-Prot),   Q13936 (UniProtKB/Swiss-Prot),   A0A0A0MSA1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161097   ⟸   NM_001167625
- Peptide Label: isoform 23
- UniProtKB: E9PDI6 (UniProtKB/TrEMBL),   F5GY28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123312   ⟸   NM_001129840
- Peptide Label: isoform 14
- UniProtKB: A0A804HIZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123299   ⟸   NM_001129827
- Peptide Label: isoform 2
- UniProtKB: Q4VMI9 (UniProtKB/Swiss-Prot),   Q4VMI8 (UniProtKB/Swiss-Prot),   Q4VMI7 (UniProtKB/Swiss-Prot),   Q15877 (UniProtKB/Swiss-Prot),   Q14744 (UniProtKB/Swiss-Prot),   Q14743 (UniProtKB/Swiss-Prot),   Q13933 (UniProtKB/Swiss-Prot),   Q13932 (UniProtKB/Swiss-Prot),   Q13930 (UniProtKB/Swiss-Prot),   Q13929 (UniProtKB/Swiss-Prot),   Q13928 (UniProtKB/Swiss-Prot),   Q13927 (UniProtKB/Swiss-Prot),   Q13926 (UniProtKB/Swiss-Prot),   Q13925 (UniProtKB/Swiss-Prot),   Q13924 (UniProtKB/Swiss-Prot),   Q13923 (UniProtKB/Swiss-Prot),   Q13922 (UniProtKB/Swiss-Prot),   Q13921 (UniProtKB/Swiss-Prot),   Q13920 (UniProtKB/Swiss-Prot),   Q13919 (UniProtKB/Swiss-Prot),   Q13918 (UniProtKB/Swiss-Prot),   Q13917 (UniProtKB/Swiss-Prot),   E9PDJ0 (UniProtKB/Swiss-Prot),   B2RUT3 (UniProtKB/Swiss-Prot),   Q13936 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_955630   ⟸   NM_199460
- Peptide Label: isoform 1
- UniProtKB: Q4VMI9 (UniProtKB/Swiss-Prot),   Q4VMI8 (UniProtKB/Swiss-Prot),   Q4VMI7 (UniProtKB/Swiss-Prot),   Q15877 (UniProtKB/Swiss-Prot),   Q14744 (UniProtKB/Swiss-Prot),   Q14743 (UniProtKB/Swiss-Prot),   Q13933 (UniProtKB/Swiss-Prot),   Q13932 (UniProtKB/Swiss-Prot),   Q13930 (UniProtKB/Swiss-Prot),   Q13929 (UniProtKB/Swiss-Prot),   Q13928 (UniProtKB/Swiss-Prot),   Q13927 (UniProtKB/Swiss-Prot),   Q13926 (UniProtKB/Swiss-Prot),   Q13925 (UniProtKB/Swiss-Prot),   Q13924 (UniProtKB/Swiss-Prot),   Q13923 (UniProtKB/Swiss-Prot),   Q13922 (UniProtKB/Swiss-Prot),   Q13921 (UniProtKB/Swiss-Prot),   Q13920 (UniProtKB/Swiss-Prot),   Q13919 (UniProtKB/Swiss-Prot),   Q13918 (UniProtKB/Swiss-Prot),   Q13917 (UniProtKB/Swiss-Prot),   E9PDJ0 (UniProtKB/Swiss-Prot),   B2RUT3 (UniProtKB/Swiss-Prot),   Q13936 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001123304   ⟸   NM_001129832
- Peptide Label: isoform 6
- UniProtKB: Q4VMI9 (UniProtKB/Swiss-Prot),   Q4VMI8 (UniProtKB/Swiss-Prot),   Q4VMI7 (UniProtKB/Swiss-Prot),   Q15877 (UniProtKB/Swiss-Prot),   Q14744 (UniProtKB/Swiss-Prot),   Q14743 (UniProtKB/Swiss-Prot),   Q13933 (UniProtKB/Swiss-Prot),   Q13932 (UniProtKB/Swiss-Prot),   Q13930 (UniProtKB/Swiss-Prot),   Q13929 (UniProtKB/Swiss-Prot),   Q13928 (UniProtKB/Swiss-Prot),   Q13927 (UniProtKB/Swiss-Prot),   Q13926 (UniProtKB/Swiss-Prot),   Q13925 (UniProtKB/Swiss-Prot),   Q13924 (UniProtKB/Swiss-Prot),   Q13923 (UniProtKB/Swiss-Prot),   Q13922 (UniProtKB/Swiss-Prot),   Q13921 (UniProtKB/Swiss-Prot),   Q13920 (UniProtKB/Swiss-Prot),   Q13919 (UniProtKB/Swiss-Prot),   Q13918 (UniProtKB/Swiss-Prot),   Q13917 (UniProtKB/Swiss-Prot),   E9PDJ0 (UniProtKB/Swiss-Prot),   B2RUT3 (UniProtKB/Swiss-Prot),   Q13936 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001123303   ⟸   NM_001129831
- Peptide Label: isoform 5
- UniProtKB: Q4VMI9 (UniProtKB/Swiss-Prot),   Q4VMI8 (UniProtKB/Swiss-Prot),   Q4VMI7 (UniProtKB/Swiss-Prot),   Q15877 (UniProtKB/Swiss-Prot),   Q14744 (UniProtKB/Swiss-Prot),   Q14743 (UniProtKB/Swiss-Prot),   Q13933 (UniProtKB/Swiss-Prot),   Q13932 (UniProtKB/Swiss-Prot),   Q13930 (UniProtKB/Swiss-Prot),   Q13929 (UniProtKB/Swiss-Prot),   Q13928 (UniProtKB/Swiss-Prot),   Q13927 (UniProtKB/Swiss-Prot),   Q13926 (UniProtKB/Swiss-Prot),   Q13925 (UniProtKB/Swiss-Prot),   Q13924 (UniProtKB/Swiss-Prot),   Q13923 (UniProtKB/Swiss-Prot),   Q13922 (UniProtKB/Swiss-Prot),   Q13921 (UniProtKB/Swiss-Prot),   Q13920 (UniProtKB/Swiss-Prot),   Q13919 (UniProtKB/Swiss-Prot),   Q13918 (UniProtKB/Swiss-Prot),   Q13917 (UniProtKB/Swiss-Prot),   E9PDJ0 (UniProtKB/Swiss-Prot),   B2RUT3 (UniProtKB/Swiss-Prot),   Q13936 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001123305   ⟸   NM_001129833
- Peptide Label: isoform 7
- UniProtKB: A0A804HIZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123314   ⟸   NM_001129842
- Peptide Label: isoform 16
- UniProtKB: A0A804HIZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123301   ⟸   NM_001129829
- Peptide Label: isoform 3
- UniProtKB: A0A804HIZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123306   ⟸   NM_001129834
- Peptide Label: isoform 8
- UniProtKB: A0A804HIZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000710   ⟸   NM_000719
- Peptide Label: isoform 18
- UniProtKB: A0A804HIZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123309   ⟸   NM_001129837
- Peptide Label: isoform 11
- UniProtKB: A0A804HKE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123311   ⟸   NM_001129839
- Peptide Label: isoform 13
- UniProtKB: A0A804HKE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123308   ⟸   NM_001129836
- Peptide Label: isoform 10
- UniProtKB: A0A804HIZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123313   ⟸   NM_001129841
- Peptide Label: isoform 15
- UniProtKB: A0A804HIZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123307   ⟸   NM_001129835
- Peptide Label: isoform 9
- UniProtKB: A0A804HIZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123315   ⟸   NM_001129843
- Peptide Label: isoform 17
- UniProtKB: A0A804HIZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123302   ⟸   NM_001129830
- Peptide Label: isoform 4
- UniProtKB: Q4VMI9 (UniProtKB/Swiss-Prot),   Q4VMI8 (UniProtKB/Swiss-Prot),   Q4VMI7 (UniProtKB/Swiss-Prot),   Q15877 (UniProtKB/Swiss-Prot),   Q14744 (UniProtKB/Swiss-Prot),   Q14743 (UniProtKB/Swiss-Prot),   Q13933 (UniProtKB/Swiss-Prot),   Q13932 (UniProtKB/Swiss-Prot),   Q13930 (UniProtKB/Swiss-Prot),   Q13929 (UniProtKB/Swiss-Prot),   Q13928 (UniProtKB/Swiss-Prot),   Q13927 (UniProtKB/Swiss-Prot),   Q13926 (UniProtKB/Swiss-Prot),   Q13925 (UniProtKB/Swiss-Prot),   Q13924 (UniProtKB/Swiss-Prot),   Q13923 (UniProtKB/Swiss-Prot),   Q13922 (UniProtKB/Swiss-Prot),   Q13921 (UniProtKB/Swiss-Prot),   Q13920 (UniProtKB/Swiss-Prot),   Q13919 (UniProtKB/Swiss-Prot),   Q13918 (UniProtKB/Swiss-Prot),   Q13917 (UniProtKB/Swiss-Prot),   E9PDJ0 (UniProtKB/Swiss-Prot),   B2RUT3 (UniProtKB/Swiss-Prot),   Q13936 (UniProtKB/Swiss-Prot),   A0A0A0MR67 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123310   ⟸   NM_001129838
- Peptide Label: isoform 12
- UniProtKB: A0A804HIZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123318   ⟸   NM_001129846
- Peptide Label: isoform 20
- UniProtKB: A0A804HIZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123316   ⟸   NM_001129844
- Peptide Label: isoform 19
- UniProtKB: A0A804HIZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006719080   ⟸   XM_006719017
- Peptide Label: isoform X30
- UniProtKB: A0A804HJB6 (UniProtKB/TrEMBL),   A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011519322   ⟸   XM_011521020
- Peptide Label: isoform X28
- UniProtKB: A0A804HKC4 (UniProtKB/TrEMBL),   A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011519325   ⟸   XM_011521023
- Peptide Label: isoform X33
- UniProtKB: F5H522 (UniProtKB/TrEMBL),   A0A804HKE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875415   ⟸   XM_017019926
- Peptide Label: isoform X1
- UniProtKB: A0A804HIR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875416   ⟸   XM_017019927
- Peptide Label: isoform X2
- UniProtKB: A0A804HIR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875417   ⟸   XM_017019928
- Peptide Label: isoform X4
- UniProtKB: A0A804HIR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875418   ⟸   XM_017019929
- Peptide Label: isoform X5
- UniProtKB: A0A804HIR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875424   ⟸   XM_017019935
- Peptide Label: isoform X15
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875444   ⟸   XM_017019955
- Peptide Label: isoform X32
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875435   ⟸   XM_017019946
- Peptide Label: isoform X20
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875421   ⟸   XM_017019932
- Peptide Label: isoform X11
- UniProtKB: F5GY28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875423   ⟸   XM_017019934
- Peptide Label: isoform X16
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875432   ⟸   XM_017019943
- Peptide Label: isoform X19
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875438   ⟸   XM_017019949
- Peptide Label: isoform X25
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875436   ⟸   XM_017019947
- Peptide Label: isoform X23
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875439   ⟸   XM_017019950
- Peptide Label: isoform X26
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875419   ⟸   XM_017019930
- Peptide Label: isoform X6
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875420   ⟸   XM_017019931
- Peptide Label: isoform X9
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875422   ⟸   XM_017019933
- Peptide Label: isoform X14
- UniProtKB: A0A804HIR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875433   ⟸   XM_017019944
- Peptide Label: isoform X21
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875428   ⟸   XM_017019939
- Peptide Label: isoform X18
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875437   ⟸   XM_017019948
- Peptide Label: isoform X24
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875434   ⟸   XM_017019945
- Peptide Label: isoform X22
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875443   ⟸   XM_017019954
- Peptide Label: isoform X31
- UniProtKB: A0A804HIJ8 (UniProtKB/TrEMBL),   A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875442   ⟸   XM_017019953
- Peptide Label: isoform X29
- UniProtKB: A0A804HI37 (UniProtKB/TrEMBL),   A0A804HJR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000382500   ⟸   ENST00000399591
RefSeq Acc Id: ENSP00000382504   ⟸   ENST00000399595
RefSeq Acc Id: ENSP00000382506   ⟸   ENST00000399597
RefSeq Acc Id: ENSP00000382563   ⟸   ENST00000399655
RefSeq Acc Id: ENSP00000382530   ⟸   ENST00000399621
RefSeq Acc Id: ENSP00000382537   ⟸   ENST00000399629
RefSeq Acc Id: ENSP00000382526   ⟸   ENST00000399617
RefSeq Acc Id: ENSP00000382549   ⟸   ENST00000399641
RefSeq Acc Id: ENSP00000382552   ⟸   ENST00000399644
RefSeq Acc Id: ENSP00000382557   ⟸   ENST00000399649
RefSeq Acc Id: ENSP00000382542   ⟸   ENST00000399634
RefSeq Acc Id: ENSP00000382546   ⟸   ENST00000399637
RefSeq Acc Id: ENSP00000382547   ⟸   ENST00000399638
RefSeq Acc Id: ENSP00000382510   ⟸   ENST00000399601
RefSeq Acc Id: ENSP00000382512   ⟸   ENST00000399603
RefSeq Acc Id: ENSP00000382515   ⟸   ENST00000399606
RefSeq Acc Id: ENSP00000266376   ⟸   ENST00000347598
RefSeq Acc Id: ENSP00000445849   ⟸   ENST00000543114
RefSeq Acc Id: ENSP00000478996   ⟸   ENST00000465278
RefSeq Acc Id: ENSP00000336982   ⟸   ENST00000335762
RefSeq Acc Id: ENSP00000385724   ⟸   ENST00000402845
RefSeq Acc Id: ENSP00000437936   ⟸   ENST00000480911
RefSeq Acc Id: ENSP00000385896   ⟸   ENST00000406454
RefSeq Acc Id: ENSP00000329877   ⟸   ENST00000327702
RefSeq Acc Id: ENSP00000341092   ⟸   ENST00000344100
RefSeq Acc Id: ENSP00000500218   ⟸   ENST00000672806
RefSeq Acc Id: ENSP00000507282   ⟸   ENST00000682835
RefSeq Acc Id: ENSP00000507105   ⟸   ENST00000682462
RefSeq Acc Id: ENSP00000507898   ⟸   ENST00000682336
RefSeq Acc Id: ENSP00000507888   ⟸   ENST00000682343
RefSeq Acc Id: ENSP00000507184   ⟸   ENST00000682544
RefSeq Acc Id: ENSP00000506882   ⟸   ENST00000683956
RefSeq Acc Id: ENSP00000507612   ⟸   ENST00000683840
RefSeq Acc Id: ENSP00000507309   ⟸   ENST00000682686
RefSeq Acc Id: ENSP00000506759   ⟸   ENST00000682152
RefSeq Acc Id: ENSP00000507169   ⟸   ENST00000683482
RefSeq Acc Id: ENSP00000507434   ⟸   ENST00000683781
RefSeq Acc Id: ENSP00000507867   ⟸   ENST00000683824
RefSeq Acc Id: XP_047285469   ⟸   XM_047429513
- Peptide Label: isoform X3
- UniProtKB: A0A804HIR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285470   ⟸   XM_047429514
- Peptide Label: isoform X7
- UniProtKB: A0A804HIR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285471   ⟸   XM_047429515
- Peptide Label: isoform X8
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285472   ⟸   XM_047429516
- Peptide Label: isoform X10
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285473   ⟸   XM_047429517
- Peptide Label: isoform X12
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285474   ⟸   XM_047429518
- Peptide Label: isoform X13
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285475   ⟸   XM_047429519
- Peptide Label: isoform X17
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285476   ⟸   XM_047429520
- Peptide Label: isoform X27
- UniProtKB: A0A804HKE9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229125   ⟸   XM_054373150
- Peptide Label: isoform X1
- UniProtKB: A0A804HIR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229140   ⟸   XM_054373165
- Peptide Label: isoform X16
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229144   ⟸   XM_054373169
- Peptide Label: isoform X20
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229143   ⟸   XM_054373168
- Peptide Label: isoform X19
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229135   ⟸   XM_054373160
- Peptide Label: isoform X11
- UniProtKB: F5GY28 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229149   ⟸   XM_054373174
- Peptide Label: isoform X25
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229147   ⟸   XM_054373172
- Peptide Label: isoform X23
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229150   ⟸   XM_054373175
- Peptide Label: isoform X26
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229126   ⟸   XM_054373151
- Peptide Label: isoform X2
- UniProtKB: A0A804HIR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229128   ⟸   XM_054373153
- Peptide Label: isoform X4
- UniProtKB: A0A804HIR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229127   ⟸   XM_054373152
- Peptide Label: isoform X3
- UniProtKB: A0A804HIR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229129   ⟸   XM_054373154
- Peptide Label: isoform X5
- UniProtKB: A0A804HIR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229131   ⟸   XM_054373156
- Peptide Label: isoform X7
- UniProtKB: A0A804HIR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229132   ⟸   XM_054373157
- Peptide Label: isoform X8
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229134   ⟸   XM_054373159
- Peptide Label: isoform X10
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229136   ⟸   XM_054373161
- Peptide Label: isoform X12
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229130   ⟸   XM_054373155
- Peptide Label: isoform X6
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229133   ⟸   XM_054373158
- Peptide Label: isoform X9
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229137   ⟸   XM_054373162
- Peptide Label: isoform X13
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229139   ⟸   XM_054373164
- Peptide Label: isoform X15
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229141   ⟸   XM_054373166
- Peptide Label: isoform X17
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229156   ⟸   XM_054373181
- Peptide Label: isoform X32
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229138   ⟸   XM_054373163
- Peptide Label: isoform X14
- UniProtKB: A0A804HIR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229145   ⟸   XM_054373170
- Peptide Label: isoform X21
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229142   ⟸   XM_054373167
- Peptide Label: isoform X18
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229148   ⟸   XM_054373173
- Peptide Label: isoform X24
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229146   ⟸   XM_054373171
- Peptide Label: isoform X22
- UniProtKB: A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229152   ⟸   XM_054373177
- Peptide Label: isoform X28
- UniProtKB: A0A804HKC4 (UniProtKB/TrEMBL),   A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229155   ⟸   XM_054373180
- Peptide Label: isoform X31
- UniProtKB: A0A804HIJ8 (UniProtKB/TrEMBL),   A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229154   ⟸   XM_054373179
- Peptide Label: isoform X30
- UniProtKB: A0A804HJB6 (UniProtKB/TrEMBL),   A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229153   ⟸   XM_054373178
- Peptide Label: isoform X29
- UniProtKB: A0A804HI37 (UniProtKB/TrEMBL),   A0A804HJR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229157   ⟸   XM_054373182
- Peptide Label: isoform X33
- UniProtKB: F5H522 (UniProtKB/TrEMBL),   A0A804HKE9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229151   ⟸   XM_054373176
- Peptide Label: isoform X27
- UniProtKB: A0A804HKE9 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13936-F1-model_v2 AlphaFold Q13936 1-2221 view protein structure

Promoters
RGD ID:7222753
Promoter ID:EPDNEW_H17122
Type:initiation region
Name:CACNA1C_2
Description:calcium voltage-gated channel subunit alpha1 C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17124  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,970,780 - 1,970,840EPDNEW
RGD ID:7222757
Promoter ID:EPDNEW_H17124
Type:initiation region
Name:CACNA1C_1
Description:calcium voltage-gated channel subunit alpha1 C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17122  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,053,287 - 2,053,347EPDNEW
RGD ID:6789762
Promoter ID:HG_KWN:14723
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:UC001QKW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36122,562,406 - 2,562,906 (+)MPROMDB
RGD ID:6810245
Promoter ID:HG_ACW:15303
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:CACNA1C.VAAPR07-UNSPLICED,   SPERBLARBU.AAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36122,612,956 - 2,613,456 (+)MPROMDB
RGD ID:6789763
Promoter ID:HG_KWN:14725
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000317046,   OTTHUMT00000317047
Position:
Human AssemblyChrPosition (strand)Source
Build 36122,620,106 - 2,620,606 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1390 AgrOrtholog
COSMIC CACNA1C COSMIC
Ensembl Genes ENSG00000151067 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000285479 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000327702 ENTREZGENE
  ENST00000327702.12 UniProtKB/TrEMBL
  ENST00000335762 ENTREZGENE
  ENST00000335762.10 UniProtKB/TrEMBL
  ENST00000344100 ENTREZGENE
  ENST00000344100.7 UniProtKB/Swiss-Prot
  ENST00000347598 ENTREZGENE
  ENST00000347598.9 UniProtKB/Swiss-Prot
  ENST00000399591 ENTREZGENE
  ENST00000399591.5 UniProtKB/Swiss-Prot
  ENST00000399595 ENTREZGENE
  ENST00000399595.5 UniProtKB/Swiss-Prot
  ENST00000399597 ENTREZGENE
  ENST00000399597.5 UniProtKB/Swiss-Prot
  ENST00000399601 ENTREZGENE
  ENST00000399601.5 UniProtKB/Swiss-Prot
  ENST00000399603 ENTREZGENE
  ENST00000399603.6 UniProtKB/Swiss-Prot
  ENST00000399606 ENTREZGENE
  ENST00000399606.5 UniProtKB/Swiss-Prot
  ENST00000399617 ENTREZGENE
  ENST00000399617.6 UniProtKB/TrEMBL
  ENST00000399621 ENTREZGENE
  ENST00000399621.5 UniProtKB/Swiss-Prot
  ENST00000399629 ENTREZGENE
  ENST00000399629.5 UniProtKB/Swiss-Prot
  ENST00000399634 ENTREZGENE
  ENST00000399634.6 UniProtKB/TrEMBL
  ENST00000399637 ENTREZGENE
  ENST00000399637.5 UniProtKB/Swiss-Prot
  ENST00000399638 ENTREZGENE
  ENST00000399638.5 UniProtKB/Swiss-Prot
  ENST00000399641 ENTREZGENE
  ENST00000399641.6 UniProtKB/Swiss-Prot
  ENST00000399644 ENTREZGENE
  ENST00000399644.5 UniProtKB/Swiss-Prot
  ENST00000399649 ENTREZGENE
  ENST00000399649.5 UniProtKB/Swiss-Prot
  ENST00000399655 ENTREZGENE
  ENST00000399655.6 UniProtKB/Swiss-Prot
  ENST00000402845 ENTREZGENE
  ENST00000402845.7 UniProtKB/Swiss-Prot
  ENST00000406454.8 UniProtKB/TrEMBL
  ENST00000465278.3 UniProtKB/TrEMBL
  ENST00000480911.6 UniProtKB/TrEMBL
  ENST00000491104.2 UniProtKB/TrEMBL
  ENST00000642583.1 UniProtKB/Swiss-Prot
  ENST00000643038.2 UniProtKB/Swiss-Prot
  ENST00000643138.1 UniProtKB/Swiss-Prot
  ENST00000643701.1 UniProtKB/Swiss-Prot
  ENST00000643858.1 UniProtKB/Swiss-Prot
  ENST00000644048.1 UniProtKB/Swiss-Prot
  ENST00000644235.2 UniProtKB/Swiss-Prot
  ENST00000644369.2 UniProtKB/Swiss-Prot
  ENST00000644660.1 UniProtKB/Swiss-Prot
  ENST00000644691.1 UniProtKB/Swiss-Prot
  ENST00000644891.1 UniProtKB/Swiss-Prot
  ENST00000645584.1 UniProtKB/Swiss-Prot
  ENST00000645965.1 UniProtKB/Swiss-Prot
  ENST00000646257.1 UniProtKB/Swiss-Prot
  ENST00000647062.1 UniProtKB/Swiss-Prot
  ENST00000647327.2 UniProtKB/Swiss-Prot
  ENST00000647521.1 UniProtKB/Swiss-Prot
  ENST00000672806.1 UniProtKB/TrEMBL
  ENST00000682152.1 UniProtKB/TrEMBL
  ENST00000682336.1 UniProtKB/TrEMBL
  ENST00000682343.2 UniProtKB/TrEMBL
  ENST00000682462 ENTREZGENE
  ENST00000682462.1 UniProtKB/TrEMBL
  ENST00000682544 ENTREZGENE
  ENST00000682544.1 UniProtKB/TrEMBL
  ENST00000682686 ENTREZGENE
  ENST00000682686.1 UniProtKB/Swiss-Prot
  ENST00000682835.1 UniProtKB/TrEMBL
  ENST00000683482 ENTREZGENE
  ENST00000683482.1 UniProtKB/Swiss-Prot
  ENST00000683781 ENTREZGENE
  ENST00000683781.1 UniProtKB/TrEMBL
  ENST00000683824 ENTREZGENE
  ENST00000683824.1 UniProtKB/TrEMBL
  ENST00000683840 ENTREZGENE
  ENST00000683840.1 UniProtKB/TrEMBL
  ENST00000683956 ENTREZGENE
  ENST00000683956.1 UniProtKB/TrEMBL
  ENST00000710479.1 UniProtKB/Swiss-Prot
  ENST00000710487.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.2180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.2500 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000151067 GTEx
  ENSG00000285479 GTEx
HGNC ID HGNC:1390 ENTREZGENE
Human Proteome Map CACNA1C Human Proteome Map
InterPro CAC1F_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPHH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCC_a1su_IQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCC_L_a1csu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCC_L_a1su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCCAlpha1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:775 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 775 ENTREZGENE
OMIM 114205 OMIM
PANTHER VOLTAGE-DEPENDENT CALCIUM CHANNEL TYPE A SUBUNIT ALPHA-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VOLTAGE-DEPENDENT L-TYPE CALCIUM CHANNEL SUBUNIT ALPHA-1C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ca_chan_IQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAC1F_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPHH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CACNA1C RGD, PharmGKB
PRINTS CACHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LVDCCALPHA1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LVDCCALPHA1C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Ca_chan_IQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WUX4_HUMAN UniProtKB/TrEMBL
  A0A0A0MR67 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MSA1 ENTREZGENE, UniProtKB/TrEMBL
  A0A5F9ZHD9_HUMAN UniProtKB/TrEMBL
  A0A804HHT8_HUMAN UniProtKB/TrEMBL
  A0A804HI37 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HIJ8 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HIR0 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HIZ0 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJB6 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJR1 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HKC4 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HKE9 ENTREZGENE, UniProtKB/TrEMBL
  A0AA34QVT1_HUMAN UniProtKB/TrEMBL
  B2RUT3 ENTREZGENE
  CAC1C_HUMAN UniProtKB/Swiss-Prot
  E9PDI6 ENTREZGENE, UniProtKB/TrEMBL
  E9PDJ0 ENTREZGENE
  F5GY28 ENTREZGENE, UniProtKB/TrEMBL
  F5H522 ENTREZGENE, UniProtKB/TrEMBL
  F5H638_HUMAN UniProtKB/TrEMBL
  Q13917 ENTREZGENE
  Q13918 ENTREZGENE
  Q13919 ENTREZGENE
  Q13920 ENTREZGENE
  Q13921 ENTREZGENE
  Q13922 ENTREZGENE
  Q13923 ENTREZGENE
  Q13924 ENTREZGENE
  Q13925 ENTREZGENE
  Q13926 ENTREZGENE
  Q13927 ENTREZGENE
  Q13928 ENTREZGENE
  Q13929 ENTREZGENE
  Q13930 ENTREZGENE
  Q13932 ENTREZGENE
  Q13933 ENTREZGENE
  Q13936 ENTREZGENE
  Q14743 ENTREZGENE
  Q14744 ENTREZGENE
  Q15877 ENTREZGENE
  Q4G0H8_HUMAN UniProtKB/TrEMBL
  Q4VMI7 ENTREZGENE
  Q4VMI8 ENTREZGENE
  Q4VMI9 ENTREZGENE
  Q59GU3_HUMAN UniProtKB/TrEMBL
  Q5V9X8_HUMAN UniProtKB/TrEMBL
  Q5V9X9_HUMAN UniProtKB/TrEMBL
  Q86XX0_HUMAN UniProtKB/TrEMBL
  Q86XX1_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RUT3 UniProtKB/Swiss-Prot
  E9PDJ0 UniProtKB/Swiss-Prot
  Q13917 UniProtKB/Swiss-Prot
  Q13918 UniProtKB/Swiss-Prot
  Q13919 UniProtKB/Swiss-Prot
  Q13920 UniProtKB/Swiss-Prot
  Q13921 UniProtKB/Swiss-Prot
  Q13922 UniProtKB/Swiss-Prot
  Q13923 UniProtKB/Swiss-Prot
  Q13924 UniProtKB/Swiss-Prot
  Q13925 UniProtKB/Swiss-Prot
  Q13926 UniProtKB/Swiss-Prot
  Q13927 UniProtKB/Swiss-Prot
  Q13928 UniProtKB/Swiss-Prot
  Q13929 UniProtKB/Swiss-Prot
  Q13930 UniProtKB/Swiss-Prot
  Q13932 UniProtKB/Swiss-Prot
  Q13933 UniProtKB/Swiss-Prot
  Q14743 UniProtKB/Swiss-Prot
  Q14744 UniProtKB/Swiss-Prot
  Q15877 UniProtKB/Swiss-Prot
  Q4VMI7 UniProtKB/Swiss-Prot
  Q4VMI8 UniProtKB/Swiss-Prot
  Q4VMI9 UniProtKB/Swiss-Prot
  Q6PKM7 UniProtKB/Swiss-Prot
  Q8N6C0 UniProtKB/Swiss-Prot
  Q99025 UniProtKB/Swiss-Prot
  Q99241 UniProtKB/Swiss-Prot
  Q99875 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CACNA1C  calcium voltage-gated channel subunit alpha1 C  CACNA1C  calcium channel, voltage-dependent, L type, alpha 1C subunit  Symbol and/or name change 5135510 APPROVED