CACNA1A (calcium voltage-gated channel subunit alpha1 A) - Rat Genome Database

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Gene: CACNA1A (calcium voltage-gated channel subunit alpha1 A) Homo sapiens
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Symbol: CACNA1A
Name: calcium voltage-gated channel subunit alpha1 A
RGD ID: 735950
HGNC Page HGNC:1388
Description: Enables high voltage-gated calcium channel activity and syntaxin binding activity. Involved in several processes, including calcium ion transmembrane transport; cellular response to amyloid-beta; and positive regulation of cytosolic calcium ion concentration. Located in several cellular components, including cell projection; nucleus; and plasma membrane. Implicated in developmental and epileptic encephalopathy 42; hereditary ataxia (multiple); and migraine (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: APCA; BI; brain calcium channel 1; brain calcium channel I; CACNL1A4; calcium channel, L type, alpha-1 polypeptide; calcium channel, voltage-dependent, alpha 1a subunit; calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; CAV2.1; DEE42; EA2; EIEE42; fetal brain Ca2+ voltage-gated channel alpha1A pore-forming subunit; FHM; HPCA; MHP; MHP1; SCA6; voltage-dependent P/Q-type calcium channel subunit alpha-1A; voltage-gated calcium channel subunit alpha Cav2.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381913,206,442 - 13,506,479 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1913,206,442 - 13,633,025 (-)EnsemblGRCh38hg38GRCh38
GRCh371913,317,256 - 13,617,293 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361913,178,256 - 13,478,274 (-)NCBINCBI36Build 36hg18NCBI36
Build 341913,179,114 - 13,478,317NCBI
Celera1913,207,639 - 13,507,772 (-)NCBICelera
Cytogenetic Map19p13.13NCBI
HuRef1912,889,634 - 13,189,171 (-)NCBIHuRef
CHM1_11913,318,256 - 13,618,198 (-)NCBICHM1_1
T2T-CHM13v2.01913,331,719 - 13,631,840 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
alpha-mannosidosis  (IAGP)
amyotrophic lateral sclerosis  (IAGP)
Ataxia  (EXP,ISO)
attention deficit hyperactivity disorder  (IAGP)
Auditory Neuropathy  (IAGP)
autism spectrum disorder  (IAGP)
autistic disorder  (IAGP)
bone marrow disease  (IAGP)
cerebellar ataxia  (IAGP,ISS)
cerebral palsy  (IAGP)
cerebral venous thrombosis  (IAGP)
Charcot-Marie-Tooth disease dominant intermediate B  (IAGP)
childhood absence epilepsy  (EXP,ISO)
childhood electroclinical syndrome  (ISS)
combined immunodeficiency  (IAGP)
combined T cell and B cell immunodeficiency  (IAGP)
developmental and epileptic encephalopathy 1  (IAGP)
developmental and epileptic encephalopathy 42  (EXP,IAGP)
developmental and epileptic encephalopathy 52  (IAGP)
Developmental Disabilities  (IAGP)
disorder of sexual development  (IAGP)
epilepsy  (IAGP)
episodic ataxia  (IAGP)
episodic ataxia type 2  (EXP,IAGP,ISS)
exfoliation syndrome  (EXP)
familial hemiplegic migraine  (IAGP,ISS)
familial hemiplegic migraine 1  (EXP,IAGP)
generalized dystonia  (ISS)
Generalized Epilepsy  (IAGP)
genetic disease  (IAGP)
glutaric acidemia I  (IAGP)
intellectual disability  (IAGP)
Lambert-Eaton myasthenic syndrome  (ISS)
learning disability  (IAGP)
Marshall-Smith syndrome  (IAGP)
migraine  (IAGP)
migraine with aura  (EXP,IAGP)
Muscle Spasticity  (IAGP)
Muscle Weakness  (IAGP)
myelitis  (IAGP)
myoclonic-atonic epilepsy  (IAGP)
Nervous System Malformations  (IAGP)
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures  (IAGP)
Neurodevelopmental Disorders  (IAGP)
neurogenic bladder  (IAGP)
Neurologic Gait Disorders  (IAGP)
progressive bulbar palsy  (IAGP)
spastic ataxia  (IAGP)
spinocerebellar ataxia type 6  (IAGP,ISS)
Spinocerebellar Ataxias  (EXP,IAGP,IEP)
Sporadic Hemiplegic Migraine  (IAGP)
subependymal giant cell astrocytoma  (IAGP)
sudden infant death syndrome  (IAGP)
temporal lobe epilepsy  (ISO)
vascular dementia  (IAGP)
visual epilepsy  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-palmitoylglycerol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
allethrin  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (ISO)
aspartame  (ISO)
barium(0)  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Butylparaben  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
cannabidiol  (ISO)
carbamazepine  (EXP)
CGP 52608  (EXP)
choline  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
clozapine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
coumarin  (EXP)
cypermethrin  (EXP)
DDE  (ISO)
DDT  (ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
gabapentin  (ISO)
gamma-aminobutyric acid  (ISO)
glyphosate  (ISO)
haloperidol  (ISO)
L-methionine  (ISO)
linuron  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
monosodium L-glutamate  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-D-aspartic acid  (ISO)
N-nitrosodiethylamine  (ISO)
nitric oxide  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
ozone  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenethyl caffeate  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chloride  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
rotenone  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (ISO)
succimer  (EXP)
temozolomide  (EXP)
testosterone  (EXP)
Testosterone propionate  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult walking behavior  (ISO)
behavioral response to pain  (ISO)
calcium ion import  (ISO)
calcium ion import across plasma membrane  (IBA,IEA)
calcium ion transmembrane transport  (IDA,IEA,ISO)
calcium ion transport  (IDA,ISO)
calcium ion-regulated exocytosis of neurotransmitter  (ISO)
calcium-ion regulated exocytosis  (ISO)
cellular response to amyloid-beta  (IDA,IGI)
central nervous system neuron differentiation  (ISO)
cerebellar molecular layer development  (ISO)
cerebellar Purkinje cell differentiation  (ISO)
cerebellar Purkinje cell layer development  (ISO)
cerebellum maturation  (ISO)
chemical synaptic transmission  (IBA,IEA,ISO)
dendrite morphogenesis  (ISO)
establishment of localization in cell  (ISO)
gamma-aminobutyric acid secretion  (ISO)
gamma-aminobutyric acid signaling pathway  (ISO)
glucose homeostasis  (ISO)
hormone biosynthetic process  (ISO)
intracellular chloride ion homeostasis  (ISO)
membrane depolarization  (ISO)
modulation of chemical synaptic transmission  (IDA)
monoatomic ion transmembrane transport  (IEA)
monoatomic ion transport  (IEA)
musculoskeletal movement, spinal reflex action  (ISO)
negative regulation of hormone biosynthetic process  (ISO)
negative regulation of neuron apoptotic process  (ISO)
nervous system process  (ISO)
neuromuscular process  (ISO)
neuromuscular process controlling balance  (ISO)
neuromuscular synaptic transmission  (ISO)
neuron apoptotic process  (ISO)
neuron cellular homeostasis  (ISO)
neuron-neuron synaptic transmission  (ISO)
positive regulation of cytosolic calcium ion concentration  (IDA,ISO)
receptor clustering  (ISO)
regulation of acetylcholine secretion, neurotransmission  (ISO)
regulation of axonogenesis  (ISO)
regulation of calcium ion-dependent exocytosis  (ISO)
regulation of hormone levels  (ISO)
regulation of membrane potential  (ISO)
regulation of presynaptic cytosolic calcium ion concentration  (ISO)
regulation of sulfur amino acid metabolic process  (ISO)
regulation of voltage-gated calcium channel activity  (ISO)
response to amyloid-beta  (IDA)
response to pain  (ISO)
rhythmic synaptic transmission  (ISO)
spinal cord motor neuron differentiation  (ISO)
synapse assembly  (ISO)
synaptic transmission, GABAergic  (ISO)
synaptic transmission, glutamatergic  (ISO)
transmembrane transport  (IEA)
transmission of nerve impulse  (ISO)
vestibular nucleus development  (ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
alfentanil pharmacodynamics pathway  (EXP)
bupivacaine pharmacodynamics pathway  (EXP)
buprenorphine pharmacodynamics pathway   (EXP)
calcium transport pathway   (TAS)
calcium/calcium-mediated signaling pathway  (TAS)
chloroprocaine pharmacodynamics pathway  (EXP)
citalopram pharmacodynamics pathway  (EXP)
cocaine pharmacodynamics pathway  (EXP)
codeine and morphine pharmacodynamics pathway  (EXP)
desipramine pharmacodynamics pathway  (EXP)
diphenoxylate pharmacodynamics pathway  (EXP)
escitalopram pharmacodynamics pathway  (EXP)
ethylmorphine pharmacodynamics pathway  (EXP)
fentanyl pharmacodynamics pathway  (EXP)
fluoxetine pharmacodynamics pathway  (EXP)
gliclazide pharmacodynamics pathway  (EXP)
glutamate signaling pathway  (IEA)
glyburide pharmacodynamics pathway  (EXP)
heroin pharmacodynamics pathway  (EXP)
hydrocodone pharmacodynamics pathway  (EXP)
hydromorphone pharmacodynamics pathway  (EXP)
imipramine pharmacodynamics pathway   (EXP)
insulin secretion pathway  (TAS)
levacetylmethadol pharmacodynamics pathway  (EXP)
levobupivacaine phgarmacodynamics pathway  (EXP)
levorphanol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
long term depression  (IEA)
mepivacaine pharmacodynamics pathway  (EXP)
methadone pharmacodynamics pathway   (EXP)
mitogen activated protein kinase signaling pathway  (IEA)
nalbuphine pharmacodynamics pathway  (EXP)
naloxone pharmacodynamics pathway  (EXP)
naltrexone pharmacodynamics pathway  (EXP)
nicotine pharmacodynamics pathway  (EXP)
oxybuprocaine pharmacodynamics pathway  (EXP)
oxycodone pharmacodynamics pathway  (EXP)
oxymorphone pharmacodynamics pathway  (EXP)
pentazocine pharmacodynamics pathway   (EXP)
potassium channel inhibitors pharmacodynamics pathway  (EXP)
prilocaine pharmacodynamics pathway  (EXP)
procaine pharmacodynamics pathway  (EXP)
remifentanil pharmacodynamics pathway  (EXP)
ropivacaine pharmacodynamics pathway  (EXP)
tramadol pharmacodynamics pathway   (EXP)
type 2 diabetes mellitus pathway  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal basal ganglia morphology  (IAGP)
Abnormal brainstem morphology  (IAGP)
Abnormal brainstem MRI signal intensity  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal globus pallidus morphology  (IAGP)
Abnormal head movements  (IAGP)
Abnormal involuntary eye movements  (IAGP)
Abnormal myelination  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal substantia nigra morphology  (IAGP)
Abnormal T-wave  (IAGP)
Abnormal thalamic MRI signal intensity  (IAGP)
Abnormal vestibular function  (IAGP)
Abnormal vestibulo-ocular reflex  (IAGP)
Abnormality of coordination  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the gastrointestinal tract  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of vision  (IAGP)
Aggressive behavior  (IAGP)
Agitation  (IAGP)
Alien limb phenomenon  (IAGP)
Amaurosis fugax  (IAGP)
Amyotrophic lateral sclerosis  (IAGP)
Anorexia  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aphasia  (IAGP)
Apnea  (IAGP)
Areflexia  (IAGP)
Arrhythmia  (IAGP)
Aspiration  (IAGP)
Ataxia  (IAGP)
Athetosis  (IAGP)
Atonic seizure  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical absence seizure  (IAGP)
Atypical behavior  (IAGP)
Auditory hallucination  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral basal ganglia lesions  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Blepharospasm  (IAGP)
Bone marrow hypocellularity  (IAGP)
Bradyopsia  (IAGP)
Brain atrophy  (IAGP)
Brain imaging abnormality  (IAGP)
Bulbar palsy  (IAGP)
Bulbar signs  (IAGP)
Cardiac conduction abnormality  (IAGP)
Cardiomyopathy  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral edema  (IAGP)
Cerebral palsy  (IAGP)
Cerebral venous thrombosis  (IAGP)
Choking episodes  (IAGP)
Chorea  (IAGP)
Choreoathetosis  (IAGP)
Coma  (IAGP)
Combined immunodeficiency  (IAGP)
Complex febrile seizure  (IAGP)
Confusion  (IAGP)
Congenital onset  (IAGP)
Constipation  (IAGP)
Convulsive status epilepticus  (IAGP)
CSF lymphocytic pleiocytosis  (IAGP)
CSF pleocytosis  (IAGP)
Decreased fetal movement  (IAGP)
Decreased vigilance  (IAGP)
Dehydration  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Diarrhea  (IAGP)
Difficulty walking  (IAGP)
Diplopia  (IAGP)
Dissociated sensory loss  (IAGP)
Distal upper limb muscle weakness  (IAGP)
Downbeat nystagmus  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
Drowsiness  (IAGP)
Dysarthria  (IAGP)
Dyscalculia  (IAGP)
Dyskinesia  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
EEG with focal epileptiform discharges  (IAGP)
EEG with focal sharp slow waves  (IAGP)
EEG with focal sharp waves  (IAGP)
EEG with generalized sharp slow waves  (IAGP)
EEG with multifocal slow activity  (IAGP)
Emotional lability  (IAGP)
Encephalopathy  (IAGP)
Enlarged cisterna magna  (IAGP)
Epileptic encephalopathy  (IAGP)
Episodic ataxia  (IAGP)
Episodic hemiplegia  (IAGP)
Esotropia  (IAGP)
Exaggerated cupid's bow  (IAGP)
Exotropia  (IAGP)
Facial hypotonia  (IAGP)
Facial paralysis  (IAGP)
Facial tics  (IAGP)
Failure to thrive  (IAGP)
Falls  (IAGP)
Feeding difficulties  (IAGP)
Fever  (IAGP)
First dorsal interossei muscle weakness  (IAGP)
Flexion contracture  (IAGP)
Flushing  (IAGP)
Focal impaired awareness seizure  (IAGP)
Focal manual automatism seizure  (IAGP)
Focal motor seizure  (IAGP)
Focal pedal automatism seizure  (IAGP)
Focal sensory seizure  (IAGP)
Focal tonic seizure  (IAGP)
Focal-onset seizure  (IAGP)
Frequent falls  (IAGP)
Gait ataxia  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal dysmotility  (IAGP)
Gaze-evoked horizontal nystagmus  (IAGP)
Gaze-evoked nystagmus  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Genetic anticipation  (IAGP)
Global developmental delay  (IAGP)
Headache  (IAGP)
Hearing impairment  (IAGP)
Hemiparesis  (IAGP)
Hemiplegia  (IAGP)
High forehead  (IAGP)
Hyperactivity  (IAGP)
Hyperhidrosis  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypodontia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Impaired smooth pursuit  (IAGP)
Impaired temperature sensation  (IAGP)
Impulsivity  (IAGP)
Incoordination  (IAGP)
Increased CSF protein concentration  (IAGP)
Infantile onset  (IAGP)
Insidious onset  (IAGP)
Intellectual disability  (IAGP)
Intention tremor  (IAGP)
Involuntary movements  (IAGP)
Irritability  (IAGP)
Juvenile onset  (IAGP)
Language impairment  (IAGP)
Limb hypertonia  (IAGP)
Loss of ambulation  (IAGP)
Mental deterioration  (IAGP)
Metamorphopsia  (IAGP)
Microcephaly  (IAGP)
Migraine  (IAGP)
Migraine with aura  (IAGP)
Migraine without aura  (IAGP)
Mild global developmental delay  (IAGP)
Muscle weakness  (IAGP)
Mydriasis  (IAGP)
Myelitis  (IAGP)
Myoclonic seizure  (IAGP)
Myoclonus  (IAGP)
Myotonia  (IAGP)
Nausea and vomiting  (IAGP)
Neonatal onset  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Neurodevelopmental delay  (IAGP)
Neurogenic bladder  (IAGP)
Nuchal rigidity  (IAGP)
Nystagmus  (IAGP)
Ocular flutter  (IAGP)
Oculomotor apraxia  (IAGP)
Optic atrophy  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Pallor  (IAGP)
Paresthesia  (IAGP)
Paroxysmal dyskinesia  (IAGP)
Personality disorder  (IAGP)
Photopsia  (IAGP)
Poor head control  (IAGP)
Postural instability  (IAGP)
Progressive  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Progressive gait ataxia  (IAGP)
Progressive neurologic deterioration  (IAGP)
Psychosis  (IAGP)
Ptosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced tendon reflexes  (IAGP)
Respiratory distress  (IAGP)
Retinal degeneration  (IAGP)
Rigidity  (IAGP)
Saccadic smooth pursuit  (IAGP)
Scotoma  (IAGP)
Seesaw nystagmus  (IAGP)
Seizure  (IAGP)
Sensory neuropathy  (IAGP)
Short stature  (IAGP)
Skewfoot  (IAGP)
Slurred speech  (IAGP)
Spastic ataxia  (IAGP)
Spastic gait  (IAGP)
Spastic paraparesis  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Spontaneous pain sensation  (IAGP)
Status epilepticus  (IAGP)
Strabismus  (IAGP)
Subependymal giant-cell astrocytoma  (IAGP)
Tetraparesis  (IAGP)
Thin eyebrow  (IAGP)
Tinnitus  (IAGP)
Tip-toe gait  (IAGP)
Tongue fasciculations  (IAGP)
Tonic seizure  (IAGP)
Torticollis  (IAGP)
Transient unilateral blurring of vision  (IAGP)
Tremor  (IAGP)
Truncal ataxia  (IAGP)
Typified by incomplete penetrance  (IAGP)
Unsteady gait  (IAGP)
Vertical nystagmus  (IAGP)
Vertigo  (IAGP)
Visual hallucination  (IAGP)
Vomiting  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Genetic heterogeneity in Italian families with familial hemiplegic migraine. Carrera P, etal., Neurology. 1999 Jul 13;53(1):26-33.
2. Voltage-gated calcium channels. Catterall WA Cold Spring Harb Perspect Biol. 2011 Aug 1;3(8):a003947. doi: 10.1101/cshperspect.a003947.
3. Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. Chioza B, etal., Neurology 2001 May 8;56(9):1245-6.
4. The E1015K variant in the synprint region of the CaV2.1 channel alters channel function and is associated with different migraine phenotypes. Condliffe SB, etal., J Biol Chem. 2013 Nov 22;288(47):33873-83. doi: 10.1074/jbc.M113.497701. Epub 2013 Oct 9.
5. Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice. Doyle J, etal., Mamm Genome. 1997 Feb;8(2):113-20.
6. Abundant expression and cytoplasmic aggregations of 1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6. Ishikawa K, etal., Hum Mol Genet. 1999 Jul;8(7):1185-93.
7. Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes. Kato T, etal., Clin Genet 2000 Jul;58(1):69-73.
8. Novel splice site CACNA1A mutation causing episodic ataxia type 2. Kaunisto MA, etal., Neurogenetics 2004 Feb;5(1):69-73. Epub 2003 Oct 7.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. The ataxic groggy rat has a missense mutation in the P/Q-type voltage-gated Ca(2+) channel alpha(1A) subunit gene and exhibits absence seizures. Tokuda S, etal., Brain Res. 2006 Dec 28;.
16. Regulation of calcium channel alpha(1A) subunit splice variant mRNAs in kainate-induced temporal lobe epilepsy. Vigues S, etal., Neurobiol Dis. 1999 Aug;6(4):288-301.
17. 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.
18. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Zhuchenko O, etal., Nat Genet. 1997 Jan;15(1):62-9.
Additional References at PubMed
PMID:1370480   PMID:7823133   PMID:8220421   PMID:8525433   PMID:8692999   PMID:8825650   PMID:8898206   PMID:9009193   PMID:9238069   PMID:9259275   PMID:9302278   PMID:9303303  
PMID:9311738   PMID:9442082   PMID:9600739   PMID:10049321   PMID:10212211   PMID:10607897   PMID:10737800   PMID:10753886   PMID:10987655   PMID:11061267   PMID:11176968   PMID:11179022  
PMID:11320173   PMID:11723274   PMID:11742003   PMID:11803518   PMID:11804332   PMID:11843866   PMID:11865310   PMID:11960817   PMID:11971066   PMID:12049805   PMID:12056940   PMID:12235360  
PMID:12451115   PMID:12461694   PMID:12527722   PMID:12542511   PMID:12545428   PMID:12676347   PMID:12707077   PMID:12736095   PMID:12756131   PMID:14534930   PMID:14570872   PMID:14592859  
PMID:14681882   PMID:14756671   PMID:15003170   PMID:15026160   PMID:15026782   PMID:15057824   PMID:15210532   PMID:15223312   PMID:15240985   PMID:15254089   PMID:15293273   PMID:15362569  
PMID:15448138   PMID:15452324   PMID:15474358   PMID:15504896   PMID:15504897   PMID:15545010   PMID:15710862   PMID:15728831   PMID:15743764   PMID:15795222   PMID:15826995   PMID:15827025  
PMID:15953418   PMID:15985579   PMID:16043807   PMID:16147992   PMID:16186543   PMID:16306128   PMID:16325861   PMID:16373336   PMID:16382099   PMID:16389595   PMID:16508934   PMID:16595610  
PMID:17020933   PMID:17119788   PMID:17289272   PMID:17292920   PMID:17418573   PMID:17438119   PMID:17573560   PMID:17588611   PMID:17654512   PMID:17672918   PMID:18056581   PMID:18162541  
PMID:18216187   PMID:18279427   PMID:18285829   PMID:18313928   PMID:18338196   PMID:18400034   PMID:18413478   PMID:18437043   PMID:18478327   PMID:18498393   PMID:18513263   PMID:18541804  
PMID:18581134   PMID:18602318   PMID:18606230   PMID:18644040   PMID:18670797   PMID:18755274   PMID:18758887   PMID:18940563   PMID:18973067   PMID:18976783   PMID:19007941   PMID:19145126  
PMID:19182766   PMID:19189122   PMID:19235102   PMID:19242091   PMID:19259763   PMID:19336002   PMID:19429006   PMID:19438926   PMID:19486177   PMID:19520699   PMID:19527141   PMID:19586927  
PMID:19624685   PMID:19633872   PMID:19811514   PMID:19864665   PMID:20043227   PMID:20043243   PMID:20069235   PMID:20071244   PMID:20080591   PMID:20091047   PMID:20129625   PMID:20156848  
PMID:20301317   PMID:20301319   PMID:20301562   PMID:20301674   PMID:20379614   PMID:20484531   PMID:20495360   PMID:20631222   PMID:20682717   PMID:20837964   PMID:21078624   PMID:21183743  
PMID:21440913   PMID:21550405   PMID:21696515   PMID:21768184   PMID:21788606   PMID:21827907   PMID:21827920   PMID:21873635   PMID:21883149   PMID:21927611   PMID:21965686   PMID:22074995  
PMID:22190617   PMID:22549042   PMID:22942164   PMID:22969264   PMID:23103419   PMID:23255606   PMID:23344743   PMID:23376566   PMID:23407676   PMID:23430985   PMID:23441182   PMID:23505410  
PMID:23726906   PMID:23827678   PMID:24046065   PMID:24275721   PMID:24329154   PMID:24445160   PMID:24486772   PMID:24658662   PMID:24836863   PMID:24842051   PMID:24907493   PMID:25109669  
PMID:25113059   PMID:25468264   PMID:25483588   PMID:25706626   PMID:25735478   PMID:25784583   PMID:25869926   PMID:25954029   PMID:26002199   PMID:26063920   PMID:26216687   PMID:26507659  
PMID:26566276   PMID:26638075   PMID:26716990   PMID:26747084   PMID:26814174   PMID:26912519   PMID:26961263   PMID:27250579   PMID:27418245   PMID:27476654   PMID:27572487   PMID:28007337  
PMID:28096552   PMID:28131213   PMID:28167673   PMID:28169007   PMID:28377503   PMID:28444220   PMID:28566750   PMID:28742085   PMID:28946818   PMID:29208674   PMID:29486580   PMID:29581247  
PMID:29891059   PMID:29926469   PMID:30063100   PMID:30142438   PMID:30167989   PMID:30342765   PMID:30710491   PMID:30733149   PMID:30922876   PMID:30961646   PMID:31115040   PMID:31477143  
PMID:31980564   PMID:32154672   PMID:32471306   PMID:32626992   PMID:32910250   PMID:33086983   PMID:33413531   PMID:33539324   PMID:33557884   PMID:33621312   PMID:33961781   PMID:34068417  
PMID:34085110   PMID:34102571   PMID:34151794   PMID:34247929   PMID:34263451   PMID:34267336   PMID:34320921   PMID:34727962   PMID:34806130   PMID:34941060   PMID:35041321   PMID:35722745  
PMID:36592223   PMID:37342032   PMID:37704626   PMID:38174495  


Genomics

Comparative Map Data
CACNA1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381913,206,442 - 13,506,479 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1913,206,442 - 13,633,025 (-)EnsemblGRCh38hg38GRCh38
GRCh371913,317,256 - 13,617,293 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361913,178,256 - 13,478,274 (-)NCBINCBI36Build 36hg18NCBI36
Build 341913,179,114 - 13,478,317NCBI
Celera1913,207,639 - 13,507,772 (-)NCBICelera
Cytogenetic Map19p13.13NCBI
HuRef1912,889,634 - 13,189,171 (-)NCBIHuRef
CHM1_11913,318,256 - 13,618,198 (-)NCBICHM1_1
T2T-CHM13v2.01913,331,719 - 13,631,840 (-)NCBIT2T-CHM13v2.0
Cacna1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39885,065,257 - 85,366,880 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl885,065,268 - 85,366,875 (+)EnsemblGRCm39 Ensembl
GRCm38884,338,631 - 84,640,251 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl884,338,639 - 84,640,246 (+)EnsemblGRCm38mm10GRCm38
MGSCv37886,939,263 - 87,164,148 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36887,305,469 - 87,530,351 (+)NCBIMGSCv36mm8
Celera888,715,985 - 88,942,662 (+)NCBICelera
Cytogenetic Map8C2- C3NCBI
cM Map840.95NCBI
Cacna1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81940,425,560 - 40,724,810 (-)NCBIGRCr8
mRatBN7.21923,520,741 - 23,819,971 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1923,520,741 - 23,823,225 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1930,343,968 - 30,567,151 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01930,998,339 - 31,221,535 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01933,221,032 - 33,444,209 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01925,453,236 - 25,749,550 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1925,526,751 - 25,749,550 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01936,502,533 - 36,727,039 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41925,188,170 - 25,424,495 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11925,194,294 - 25,429,321 (-)NCBI
Celera1923,074,249 - 23,295,970 (-)NCBICelera
Cytogenetic Map19q11NCBI
Cacna1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541532,183,442 - 32,400,595 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541532,182,536 - 32,457,511 (-)NCBIChiLan1.0ChiLan1.0
CACNA1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22018,136,613 - 18,555,581 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11917,137,272 - 17,556,602 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01912,769,586 - 13,189,022 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11913,506,232 - 13,804,815 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1913,507,102 - 13,804,729 (-)Ensemblpanpan1.1panPan2
CACNA1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12048,747,087 - 49,036,627 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2048,821,025 - 49,036,032 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2048,694,916 - 48,910,172 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02049,339,396 - 49,554,755 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2049,280,733 - 49,553,801 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12048,549,923 - 48,765,101 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02048,976,279 - 49,191,383 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02049,219,720 - 49,435,029 (+)NCBIUU_Cfam_GSD_1.0
LOC101960999
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118208,078,478 - 208,143,320 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366592,192,610 - 2,392,638 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366592,201,606 - 2,269,625 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACNA1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl265,514,509 - 65,871,182 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1265,491,784 - 65,871,068 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2265,921,411 - 66,176,189 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CACNA1A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1611,883,353 - 12,307,023 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660747,403,914 - 7,900,327 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cacna1a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624901708,234 - 932,643 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624901707,322 - 932,658 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CACNA1A
3227 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) single nucleotide variant CACNA1A-associated disorders [RCV001252961]|Delayed gross motor development [RCV001787103]|not provided [RCV000523450] Chr19:13262751 [GRCh38]
Chr19:13373565 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.6473G>A (p.Arg2158His) single nucleotide variant Episodic ataxia type 2 [RCV001318521]|not provided [RCV000254914] Chr19:13209365 [GRCh38]
Chr19:13320179 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3383C>T (p.Pro1128Leu) single nucleotide variant Episodic ataxia type 2 [RCV002525020]|not specified [RCV000517393] Chr19:13286673 [GRCh38]
Chr19:13397487 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala) single nucleotide variant Episodic ataxia type 2 [RCV000694727]|Inborn genetic diseases [RCV002525162]|not provided [RCV000991680] Chr19:13212695 [GRCh38]
Chr19:13323509 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His) single nucleotide variant Episodic ataxia type 2 [RCV000810178]|Inborn genetic diseases [RCV002323878]|not provided [RCV000518167] Chr19:13286889 [GRCh38]
Chr19:13397703 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.5166C>T (p.Asp1722=) single nucleotide variant Episodic ataxia type 2 [RCV002060232]|Inborn genetic diseases [RCV002341205]|not provided [RCV001797093]|not specified [RCV000518234] Chr19:13235004 [GRCh38]
Chr19:13345818 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1559A>G (p.Tyr520Cys) single nucleotide variant Episodic ataxia type 2 [RCV001308374]|not provided [RCV000254715] Chr19:13312778 [GRCh38]
Chr19:13423592 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.643G>A (p.Val215Ile) single nucleotide variant Episodic ataxia type 2 [RCV000544082]|not specified [RCV000518030] Chr19:13365458 [GRCh38]
Chr19:13476272 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4448G>T (p.Arg1483Leu) single nucleotide variant not provided [RCV001644598] Chr19:13257492 [GRCh38]
Chr19:13368306 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met) single nucleotide variant Inborn genetic diseases [RCV002527459]|not provided [RCV000516347] Chr19:13207645 [GRCh38]
Chr19:13318459 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2886C>T (p.Arg962=) single nucleotide variant Episodic ataxia type 2 [RCV000557910] Chr19:13298747 [GRCh38]
Chr19:13409561 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.578C>T (p.Thr193Met) single nucleotide variant Episodic ataxia type 2 [RCV001062071]|not provided [RCV001755761]|not specified [RCV000516563] Chr19:13371741 [GRCh38]
Chr19:13482555 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3535A>C (p.Asn1179His) single nucleotide variant not provided [RCV000516598] Chr19:13286521 [GRCh38]
Chr19:13397335 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6346T>G (p.Ser2116Ala) single nucleotide variant Episodic ataxia type 2 [RCV001070996]|not provided [RCV000520739] Chr19:13209492 [GRCh38]
Chr19:13320306 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3564C>T (p.Asn1188=) single nucleotide variant Episodic ataxia type 2 [RCV000936843]|not provided [RCV001569163]|not specified [RCV000517540] Chr19:13285196 [GRCh38]
Chr19:13396010 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=) single nucleotide variant Episodic ataxia type 2 [RCV001088434]|Inborn genetic diseases [RCV002448557]|not provided [RCV000831711]|not specified [RCV000517640] Chr19:13359696 [GRCh38]
Chr19:13470510 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.6489dup (p.Glu2164Ter) duplication not provided [RCV000521585] Chr19:13209348..13209349 [GRCh38]
Chr19:13320162..13320163 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1199-9C>T single nucleotide variant Episodic ataxia type 2 [RCV000904927]|not provided [RCV001576544]|not specified [RCV000517959] Chr19:13332934 [GRCh38]
Chr19:13443748 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs) deletion Episodic ataxia type 2 [RCV000526917]|not provided [RCV000516261] Chr19:13317146..13317167 [GRCh38]
Chr19:13427960..13427981 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.7400G>A (p.Arg2467Gln) single nucleotide variant Episodic ataxia type 2 [RCV000521602]|not provided [RCV001726212] Chr19:13207434 [GRCh38]
Chr19:13318248 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2734C>T (p.Gln912Ter) single nucleotide variant not provided [RCV000518604] Chr19:13298899 [GRCh38]
Chr19:13409713 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) single nucleotide variant CACNA1A-related disorder [RCV003985374]|Episodic ataxia type 2 [RCV001644622]|Episodic ataxia type 2 [RCV002227176]|Inborn genetic diseases [RCV000624265]|not provided [RCV000518921] Chr19:13245235 [GRCh38]
Chr19:13356049 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.4090-9A>T single nucleotide variant not specified [RCV000518827] Chr19:13261619 [GRCh38]
Chr19:13372433 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002271522]|not provided [RCV000522787] Chr19:13209441 [GRCh38]
Chr19:13320255 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.1439del (p.Arg480fs) deletion Episodic ataxia type 2 [RCV000550890]|not provided [RCV000757051] Chr19:13317228 [GRCh38]
Chr19:13428042 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6614G>A (p.Arg2205Gln) single nucleotide variant Episodic ataxia type 2 [RCV000551006]|not provided [RCV002251488] Chr19:13208922 [GRCh38]
Chr19:13319736 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6610G>A (p.Asp2204Asn) single nucleotide variant Episodic ataxia type 2 [RCV001318420]|Inborn genetic diseases [RCV003258847]|not provided [RCV000521439] Chr19:13208926 [GRCh38]
Chr19:13319740 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2104+6C>T single nucleotide variant Episodic ataxia type 2 [RCV001224697]|not provided [RCV001576433] Chr19:13303761 [GRCh38]
Chr19:13414575 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3882+7G>A single nucleotide variant Episodic ataxia type 2 [RCV001491384] Chr19:13277062 [GRCh38]
Chr19:13387876 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu) single nucleotide variant Episodic ataxia type 2 [RCV001858044]|Episodic ataxia type 2 [RCV003458453]|not provided [RCV000521823] Chr19:13208961 [GRCh38]
Chr19:13319775 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance|not provided
NM_001127222.2(CACNA1A):c.4199G>A (p.Gly1400Glu) single nucleotide variant not specified [RCV000517978] Chr19:13261501 [GRCh38]
Chr19:13372315 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3372G>A (p.Thr1124=) single nucleotide variant Episodic ataxia type 2 [RCV001418846]|not provided [RCV000559448] Chr19:13286684 [GRCh38]
Chr19:13397498 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1267A>T (p.Thr423Ser) single nucleotide variant not specified [RCV000516191] Chr19:13330322 [GRCh38]
Chr19:13441136 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu) single nucleotide variant Episodic ataxia type 2 [RCV000764181]|Episodic ataxia type 2 [RCV001039565]|not provided [RCV000522305] Chr19:13298709 [GRCh38]
Chr19:13409523 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5125G>A (p.Gly1709Arg) single nucleotide variant not provided [RCV000516775] Chr19:13235217 [GRCh38]
Chr19:13346031 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2199G>A (p.Ala733=) single nucleotide variant Episodic ataxia type 2 [RCV001394517] Chr19:13300630 [GRCh38]
Chr19:13411444 [GRCh37]
Chr19:19p13.13		 likely benign
NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del deletion Migraine, familial hemiplegic, 1 [RCV000009046] Chr19:13207898..13214608 [GRCh38]
Chr19:13318712..13325422 [GRCh37]
Chr19:19p13		 pathogenic
NM_001127222.2(CACNA1A):c.851G>T (p.Gly284Val) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001653975]|Episodic ataxia type 2 [RCV000656695] Chr19:13359733 [GRCh38]
Chr19:13470547 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.345C>G (p.Leu115=) single nucleotide variant Episodic ataxia type 2 [RCV000548010]|not provided [RCV001591298] Chr19:13455161 [GRCh38]
Chr19:13565975 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2909A>G (p.Glu970Gly) single nucleotide variant Episodic ataxia type 2 [RCV000551818] Chr19:13298724 [GRCh38]
Chr19:13409538 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4426C>T (p.Gln1476Ter) single nucleotide variant Episodic ataxia type 2 [RCV000552285] Chr19:13257514 [GRCh38]
Chr19:13368328 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4695G>A (p.Pro1565=) single nucleotide variant Episodic ataxia type 2 [RCV000552648] Chr19:13255155 [GRCh38]
Chr19:13365969 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6435C>T (p.Pro2145=) single nucleotide variant CACNA1A-related disorder [RCV003985381]|Episodic ataxia type 2 [RCV000556118] Chr19:13209403 [GRCh38]
Chr19:13320217 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) deletion Autistic behavior [RCV000735366]|CACNA1A-related disorder [RCV003985425]|Episodic ataxia type 2 [RCV000990163]|Episodic ataxia type 2 [RCV003227847]|Inborn genetic diseases [RCV002536537]|not provided [RCV003424326] Chr19:13207563..13207568 [GRCh38]
Chr19:13318377..13318382 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001253541]|not provided [RCV000517587] Chr19:13303865 [GRCh38]
Chr19:13414679 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.6657delinsCCAC (p.His2219dup) indel not provided [RCV001849085]|not specified [RCV000727724] Chr19:13208879 [GRCh38]
Chr19:13319693 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4896C>T (p.Phe1632=) single nucleotide variant Episodic ataxia type 2 [RCV000546114]|not provided [RCV001696959] Chr19:13245236 [GRCh38]
Chr19:13356050 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6028C>T (p.Gln2010Ter) single nucleotide variant not provided [RCV000516955] Chr19:13212653 [GRCh38]
Chr19:13323467 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3490G>A (p.Asp1164Asn) single nucleotide variant Episodic ataxia type 2 [RCV000560424] Chr19:13286566 [GRCh38]
Chr19:13397380 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.549G>A (p.Ala183=) single nucleotide variant Episodic ataxia type 2 [RCV000547392]|not provided [RCV001697010]|not specified [RCV000517774] Chr19:13371770 [GRCh38]
Chr19:13482584 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=) single nucleotide variant Episodic ataxia type 2 [RCV001504550]|Inborn genetic diseases [RCV002367709]|not provided [RCV000996775]|not specified [RCV000516244] Chr19:13209355 [GRCh38]
Chr19:13320169 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.5988G>A (p.Thr1996=) single nucleotide variant Episodic ataxia type 2 [RCV000935688]|not specified [RCV000517833] Chr19:13212693 [GRCh38]
Chr19:13323507 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.6732C>T (p.Arg2244=) single nucleotide variant Episodic ataxia type 2 [RCV001495072] Chr19:13208804 [GRCh38]
Chr19:13319618 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) single nucleotide variant CACNA1A-related disorder [RCV003985370]|Episodic ataxia type 2 [RCV001087183]|Episodic ataxia type 2 [RCV002481662]|Inborn genetic diseases [RCV002420296]|not provided [RCV000951683]|not specified [RCV000518375] Chr19:13307785 [GRCh38]
Chr19:13418599 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.632-8C>G single nucleotide variant Episodic ataxia type 2 [RCV001495053]|not specified [RCV003155412] Chr19:13365477 [GRCh38]
Chr19:13476291 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4807G>A (p.Val1603Ile) single nucleotide variant Episodic ataxia type 2 [RCV002527458]|not specified [RCV000516355] Chr19:13253050 [GRCh38]
Chr19:13363864 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2011G>A (p.Glu671Lys) single nucleotide variant Episodic ataxia type 2 [RCV000553657]|not provided [RCV002051866] Chr19:13303860 [GRCh38]
Chr19:13414674 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_13106632)_(13428155_?)del deletion Marshall-Smith syndrome [RCV000543828] Chr19:13106632..13428155 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001127222.2(CACNA1A):c.6017T>G (p.Leu2006Arg) single nucleotide variant Episodic ataxia type 2 [RCV003766956]|not provided [RCV000522645] Chr19:13212664 [GRCh38]
Chr19:13323478 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=) single nucleotide variant Episodic ataxia type 2 [RCV003224304]|Episodic ataxia type 2 [RCV003766908]|not specified [RCV000516690] Chr19:13303783 [GRCh38]
Chr19:13414597 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3806A>G (p.Asn1269Ser) single nucleotide variant not provided [RCV000519562] Chr19:13283283 [GRCh38]
Chr19:13394097 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3637G>A (p.Gly1213Ser) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001528103]|Episodic ataxia type 2 [RCV001854006]|not provided [RCV000594032] Chr19:13285123 [GRCh38]
Chr19:13395937 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr) single nucleotide variant CACNA1A-related disorder [RCV003985373]|not provided [RCV001528777]|not specified [RCV000517230] Chr19:13207543 [GRCh38]
Chr19:13318357 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) single nucleotide variant Episodic ataxia type 2 [RCV001853632]|Episodic ataxia type 2 [RCV002227178]|Episodic ataxia type 2 [RCV003492089]|not provided [RCV000519829] Chr19:13303585 [GRCh38]
Chr19:13414399 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.3215del (p.Lys1072fs) deletion not provided [RCV000516406] Chr19:13286841 [GRCh38]
Chr19:13397655 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.41del (p.Gly14fs) deletion not provided [RCV000517100] Chr19:13506184 [GRCh38]
Chr19:13616998 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6514G>T (p.Asp2172Tyr) single nucleotide variant Episodic ataxia type 2 [RCV001321315]|Inborn genetic diseases [RCV002367710]|not provided [RCV001815344]|not specified [RCV000517507] Chr19:13209324 [GRCh38]
Chr19:13320138 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2039del (p.Gln680fs) deletion Developmental and epileptic encephalopathy, 42 [RCV003317277]|Episodic ataxia type 2 [RCV000547249]|not provided [RCV001531294] Chr19:13303832 [GRCh38]
Chr19:13414646 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln) single nucleotide variant Episodic ataxia type 2 [RCV002512926]|Familial hemiplegic migraine [RCV001533156]|Migraine, familial hemiplegic, 1 [RCV000009008]|not provided [RCV003231095] Chr19:13371744 [GRCh38]
Chr19:13482558 [GRCh37]
Chr19:19p13.13		 pathogenic|not provided
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002051776]|Episodic ataxia type 2 [RCV000504541]|Episodic ataxia type 2 [RCV000802118]|Episodic ataxia type 2 [RCV003233067]|Familial hemiplegic migraine [RCV001533159]|Inborn genetic diseases [RCV002415406]|Migraine, familial hemiplegic, 1 [RCV000009009]|Migraine, sporadic hemiplegic, with progressive cerebellar ataxia [RCV000009010]|not provided [RCV000516650] Chr19:13303877 [GRCh38]
Chr19:13414691 [GRCh37]
Chr19:19p13.13		 pathogenic|not provided
NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala) single nucleotide variant Familial hemiplegic migraine [RCV001533160]|Migraine, familial hemiplegic, 1 [RCV000009011] Chr19:13303580 [GRCh38]
Chr19:13414394 [GRCh37]
Chr19:19p13.13		 pathogenic|not provided
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu) single nucleotide variant Episodic ataxia type 2 [RCV001390440]|Familial hemiplegic migraine [RCV001533163]|Migraine, familial hemiplegic, 1 [RCV000009012] Chr19:13230185 [GRCh38]
Chr19:13340999 [GRCh37]
Chr19:19p13.13		 pathogenic|not provided
NM_001127222.2(CACNA1A):c.3794del (p.Pro1265fs) deletion Episodic ataxia type 2 [RCV000009013] Chr19:13283295 [GRCh38]
Chr19:13394109 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3989+1G>A single nucleotide variant Episodic ataxia type 2 [RCV000009014]|not provided [RCV001781208] Chr19:13275849 [GRCh38]
Chr19:13386663 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.1(CACNA1A):c.6937_6939CAG(6_17) (p.Gln2319_Gln2325del) microsatellite Spinocerebellar ataxia 6 [RCV000009015]|Episodic ataxia type 2 [RCV000030866] Chr19:13207859..13207861 [GRCh38]
Chr19:13318673..13318675 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) single nucleotide variant Episodic ataxia type 2 [RCV000009017]|Episodic ataxia type 2 [RCV001381850]|Spinocerebellar ataxia type 6 [RCV001542800]|not provided [RCV000517293] Chr19:13235702 [GRCh38]
Chr19:13346516 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) single nucleotide variant Episodic ataxia type 2 [RCV000009019]|Episodic ataxia type 2 [RCV001388786]|Spinocerebellar ataxia type 6 [RCV000009018] Chr19:13359707 [GRCh38]
Chr19:13470521 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2142C>A (p.Asp714Glu) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV000009020] Chr19:13303576 [GRCh38]
Chr19:13414390 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4466T>C (p.Phe1489Ser) single nucleotide variant Episodic ataxia type 2 [RCV000009021] Chr19:13257474 [GRCh38]
Chr19:13368288 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.4148A>G (p.Tyr1383Cys) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV000009022] Chr19:13261552 [GRCh38]
Chr19:13372366 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5263G>A (p.Glu1755Lys) single nucleotide variant Episodic ataxia type 2 [RCV000009023] Chr19:13231847 [GRCh38]
Chr19:13342661 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2813dup (p.Ser939fs) duplication Episodic ataxia type 2 [RCV000009024] Chr19:13298819..13298820 [GRCh38]
Chr19:13409633..13409634 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4842del (p.Val1616fs) deletion Episodic ataxia type 2 [RCV000009025] Chr19:13253015 [GRCh38]
Chr19:13363829 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu) single nucleotide variant Familial hemiplegic migraine [RCV001533162]|Migraine, familial hemiplegic, 1 [RCV000009026] Chr19:13259589 [GRCh38]
Chr19:13370403 [GRCh37]
Chr19:19p13.13		 pathogenic|not provided
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003150928]|Episodic ataxia type 2 [RCV000502832]|Episodic ataxia type 2 [RCV001390632]|Familial hemiplegic migraine [RCV001533157]|Migraine, familial hemiplegic, 1 [RCV000009027]|not provided [RCV002272012] Chr19:13365448 [GRCh38]
Chr19:13476262 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|not provided
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) single nucleotide variant Episodic ataxia type 2 [RCV001380080]|Episodic ataxia type 2 [RCV002227018]|Familial hemiplegic migraine [RCV001533158]|Migraine, familial hemiplegic, 1 [RCV000009028]|Spinocerebellar ataxia type 6 [RCV000009030]|Sporadic hemiplegic migraine [RCV000009029]|not provided [RCV000517519] Chr19:13308452 [GRCh38]
Chr19:13419266 [GRCh37]
Chr19:19p13.13		 pathogenic|not provided
NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter) single nucleotide variant Episodic ataxia type 2 [RCV000009031]|Episodic ataxia type 2 [RCV001851752] Chr19:13277122 [GRCh38]
Chr19:13387936 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) single nucleotide variant Episodic ataxia type 2 [RCV000009032]|Episodic ataxia type 2 [RCV000763032]|Episodic ataxia type 2 [RCV002512927]|Inborn genetic diseases [RCV000622947]|not provided [RCV002466397] Chr19:13255217 [GRCh38]
Chr19:13366031 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.4205T>G (p.Phe1402Cys) single nucleotide variant Episodic ataxia type 2 [RCV000009033] Chr19:13261495 [GRCh38]
Chr19:13372309 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5452C>T (p.Arg1818Ter) single nucleotide variant Episodic ataxia, type 2, and epilepsy [RCV000009034]|not provided [RCV001836705] Chr19:13230158 [GRCh38]
Chr19:13340972 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) single nucleotide variant Episodic ataxia type 2 [RCV000157056]|Episodic ataxia type 2 [RCV001049766]|Inborn genetic diseases [RCV002345236]|Migraine, familial hemiplegic, 1 [RCV000009035]|Neurodevelopmental delay [RCV002273923]|Spinocerebellar ataxia type 6 [RCV000009036]|not provided [RCV001804718] Chr19:13235219 [GRCh38]
Chr19:13346033 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.860G>A (p.Cys287Tyr) single nucleotide variant Episodic ataxia type 2 [RCV000009037] Chr19:13359724 [GRCh38]
Chr19:13470538 [GRCh37]
Chr19:19p13.13		 pathogenic
nsv1067873 deletion Episodic ataxia type 2 [RCV000009038] Chr19:13204242..13243808 [GRCh38]
Chr19:13315086..13354652 [GRCh37]
Chr19:19p13		 pathogenic
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV000009039]|not provided [RCV000516653] Chr19:13262789 [GRCh38]
Chr19:13373603 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NC_000019.10:g.(13359800_13371688)_(13371779_13505931)del deletion Episodic ataxia type 2 [RCV000009040] Chr19:13371688..13371779 [GRCh38]
Chr19:19p13		 pathogenic
NC_000019.10:g.(13335910_13359606)_(13359799_13371687)del deletion Episodic ataxia type 2 [RCV000009041] Chr19:13359606..13359799 [GRCh38]
Chr19:13470420..13470613 [GRCh37]
Chr19:19p13		 pathogenic
NC_000019.10:g.(13335910_13359606)_(13359799_13371687)dup duplication Episodic ataxia type 2 [RCV000009042] Chr19:13359606..13359799 [GRCh38]
Chr19:13470420..13470613 [GRCh37]
Chr19:19p13.13		 pathogenic
NC_000019.10:g.(13255260_13259564)_(13259701_?)del deletion Episodic ataxia type 2 [RCV000009043] Chr19:13259564..13259701 [GRCh38]
Chr19:19p13		 pathogenic
NC_000019.10:g.(13214609_13224667)_(13286966_13300549)del deletion Episodic ataxia type 2 [RCV000009044] Chr19:13224667..13286966 [GRCh38]
Chr19:19p13.13		 pathogenic
NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del deletion Episodic ataxia type 2 [RCV000009045] Chr19:13207898..13214608 [GRCh38]
Chr19:13318712..13325422 [GRCh37]
Chr19:19p13		 pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13		 likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 copy number gain See cases [RCV000052910] Chr19:12132052..14751798 [GRCh38]
Chr19:12242867..14862610 [GRCh37]
Chr19:12103867..14723610 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3 copy number gain See cases [RCV000052911] Chr19:12850595..13290954 [GRCh38]
Chr19:12961409..13401768 [GRCh37]
Chr19:12822409..13262768 [NCBI36]
Chr19:19p13.13		 pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 copy number loss See cases [RCV000053945] Chr19:11517825..13225287 [GRCh38]
Chr19:11628640..13336101 [GRCh37]
Chr19:11489640..13197101 [NCBI36]
Chr19:19p13.2-13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln) single nucleotide variant Episodic ataxia type 2 [RCV000692683]|Inborn genetic diseases [RCV002345374]|not provided [RCV001289290] Chr19:13231774 [GRCh38]
Chr19:13342588 [GRCh37]
Chr19:13203588 [NCBI36]
Chr19:19p13.13		 likely benign|uncertain significance|not provided
NM_001127221.1(CACNA1A):c.5124C>T (p.Ile1708=) single nucleotide variant Malignant melanoma [RCV000071941] Chr19:13235221 [GRCh38]
Chr19:13346035 [GRCh37]
Chr19:13207035 [NCBI36]
Chr19:19p13.13		 not provided
NM_001127221.1(CACNA1A):c.4032C>T (p.Ser1344=) single nucleotide variant Malignant melanoma [RCV000071942] Chr19:13262794 [GRCh38]
Chr19:13373608 [GRCh37]
Chr19:13234608 [NCBI36]
Chr19:19p13.13		 not provided
NM_001127221.1(CACNA1A):c.3939G>A (p.Trp1313Ter) single nucleotide variant Malignant melanoma [RCV000071943] Chr19:13275903 [GRCh38]
Chr19:13386717 [GRCh37]
Chr19:13247717 [NCBI36]
Chr19:19p13.13		 not provided
NM_001127222.2(CACNA1A):c.1165C>T (p.Leu389Phe) single nucleotide variant Episodic ataxia type 2 [RCV000059288] Chr19:13334411 [GRCh38]
Chr19:13445225 [GRCh37]
Chr19:19p13.13		 not provided
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002470753]|Episodic ataxia type 2 [RCV000059289]|Episodic ataxia type 2 [RCV002514301]|not provided [RCV000431929] Chr19:13332911 [GRCh38]
Chr19:13443725 [GRCh37]
Chr19:19p13.13		 uncertain significance|not provided
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) single nucleotide variant CACNA1A-related disorder [RCV003985265]|Episodic ataxia type 2 [RCV000990169]|Episodic ataxia type 2 [RCV001083664]|Episodic ataxia type 2 [RCV002504977]|Inborn genetic diseases [RCV002313741]|not provided [RCV000059290]|not specified [RCV000174037] Chr19:13317310 [GRCh38]
Chr19:13428124 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) single nucleotide variant Episodic ataxia type 2 [RCV000059291]|Episodic ataxia type 2 [RCV002513778]|Hereditary episodic ataxia [RCV003398649]|not provided [RCV001092223] Chr19:13317168 [GRCh38]
Chr19:13427982 [GRCh37]
Chr19:19p13.13		 pathogenic|conflicting interpretations of pathogenicity|not provided
NM_001127222.2(CACNA1A):c.1910G>A (p.Gly637Asp) single nucleotide variant Episodic ataxia type 2 [RCV000059292] Chr19:13308123 [GRCh38]
Chr19:13418937 [GRCh37]
Chr19:19p13.13		 not provided
NM_001127222.2(CACNA1A):c.2142C>G (p.Asp714Glu) single nucleotide variant Familial hemiplegic migraine [RCV001533161]|Migraine, familial hemiplegic, 1 [RCV000059293] Chr19:13303576 [GRCh38]
Chr19:13414390 [GRCh37]
Chr19:19p13.13		 pathogenic|not provided
NM_001127222.2(CACNA1A):c.2390T>C (p.Met797Thr) single nucleotide variant Episodic ataxia type 2 [RCV000059294]|not provided [RCV001753477] Chr19:13299243 [GRCh38]
Chr19:13410057 [GRCh37]
Chr19:19p13.13		 uncertain significance|not provided
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) single nucleotide variant CACNA1A-related disorder [RCV003985266]|Episodic ataxia type 2 [RCV000059295]|Episodic ataxia type 2 [RCV001080277]|Inborn genetic diseases [RCV002426621]|not provided [RCV000513873]|not specified [RCV000152897] Chr19:13298946 [GRCh38]
Chr19:13409760 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) single nucleotide variant Episodic ataxia type 2 [RCV001515629]|Inborn genetic diseases [RCV002311537]|not provided [RCV000059296]|not specified [RCV000116520] Chr19:13298882 [GRCh38]
Chr19:13409696 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) single nucleotide variant Episodic ataxia type 2 [RCV001515628]|Inborn genetic diseases [RCV002311538]|not provided [RCV000059297]|not specified [RCV000116521] Chr19:13298658 [GRCh38]
Chr19:13409472 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) single nucleotide variant Episodic ataxia type 2 [RCV001515781]|Episodic ataxia type 2 [RCV002483117]|Inborn genetic diseases [RCV002311539]|not provided [RCV000059298]|not specified [RCV000079477] Chr19:13286746 [GRCh38]
Chr19:13397560 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_001127222.2(CACNA1A):c.4000A>G (p.Lys1334Glu) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV000059299] Chr19:13262823 [GRCh38]
Chr19:13373637 [GRCh37]
Chr19:19p13.13		 not provided
NM_001127222.2(CACNA1A):c.4441G>A (p.Gly1481Arg) single nucleotide variant Episodic ataxia type 2 [RCV000059300] Chr19:13257499 [GRCh38]
Chr19:13368313 [GRCh37]
Chr19:19p13.13		 not provided
NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile) single nucleotide variant Episodic ataxia type 2 [RCV000059301]|Episodic ataxia type 2 [RCV001337512]|not provided [RCV003126413] Chr19:13257466 [GRCh38]
Chr19:13368280 [GRCh37]
Chr19:19p13.13		 uncertain significance|not provided
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) single nucleotide variant Ataxia _ Neurologic (child onset) [RCV000755049]|Chronic and progressive ataxia [RCV000157057]|Developmental and epileptic encephalopathy, 42 [RCV003152591]|Episodic ataxia type 2 [RCV000653331]|Episodic ataxia type 2 [RCV000679889]|Global developmental delay [RCV000415457]|Inborn genetic diseases [RCV002311540]|Neurodevelopmental delay [RCV002273953]|Spinocerebellar ataxia type 6 [RCV000059302]|not provided [RCV000406556] Chr19:13235693 [GRCh38]
Chr19:13346507 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV000059303]|not provided [RCV000991674] Chr19:13235685 [GRCh38]
Chr19:13346499 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|not provided
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) single nucleotide variant Episodic ataxia type 2 [RCV000059304]|Episodic ataxia type 2 [RCV001212963]|not provided [RCV003144120] Chr19:13235649 [GRCh38]
Chr19:13346463 [GRCh37]
Chr19:19p13.13		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001127222.2(CACNA1A):c.5044T>C (p.Trp1682Arg) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV000059305] Chr19:13235637 [GRCh38]
Chr19:13346451 [GRCh37]
Chr19:19p13.13		 not provided
NM_001127222.2(CACNA1A):c.5080G>A (p.Val1694Ile) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV000059306] Chr19:13235262 [GRCh38]
Chr19:13346076 [GRCh37]
Chr19:19p13.13		 not provided
NM_001127222.2(CACNA1A):c.5204A>T (p.His1735Leu) single nucleotide variant Episodic ataxia type 2 [RCV000059307] Chr19:13234966 [GRCh38]
Chr19:13345780 [GRCh37]
Chr19:19p13.13		 not provided
NM_001127222.2(CACNA1A):c.5529-1195T>C single nucleotide variant Episodic ataxia type 2 [RCV000059308] Chr19:13228722 [GRCh38]
Chr19:13339536 [GRCh37]
Chr19:19p13.13		 not provided
NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys) single nucleotide variant Episodic ataxia type 2 [RCV002514302]|Migraine, familial hemiplegic, 1 [RCV000059309] Chr19:13371735 [GRCh38]
Chr19:13482549 [GRCh37]
Chr19:19p13.13		 pathogenic|not provided
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) single nucleotide variant Cerebellar ataxia [RCV000788079]|Episodic ataxia type 2 [RCV000059310]|Episodic ataxia type 2 [RCV000653342]|Inborn genetic diseases [RCV002362698]|Spinocerebellar ataxia type 6 [RCV001849176]|Tip-toe gait [RCV003319317]|not provided [RCV000710089]|not specified [RCV001174863] Chr19:13209438 [GRCh38]
Chr19:13320252 [GRCh37]
Chr19:19p13.13		 likely pathogenic|likely benign|uncertain significance|not provided
NM_001127222.2(CACNA1A):c.743A>G (p.Tyr248Cys) single nucleotide variant Episodic ataxia type 2 [RCV000059311] Chr19:13365358 [GRCh38]
Chr19:13476172 [GRCh37]
Chr19:19p13.13		 not provided
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr) single nucleotide variant Episodic ataxia type 2 [RCV000059312]|Episodic ataxia type 2 [RCV001215900] Chr19:13365344 [GRCh38]
Chr19:13476158 [GRCh37]
Chr19:19p13.13		 likely pathogenic|not provided
NM_001127222.2(CACNA1A):c.766T>C (p.Cys256Arg) single nucleotide variant Episodic ataxia type 2 [RCV000059313] Chr19:13365335 [GRCh38]
Chr19:13476149 [GRCh37]
Chr19:19p13.13		 not provided
NM_001127221.1(CACNA1A):c.3993-2095C>A single nucleotide variant Lung cancer [RCV000101049] Chr19:13264928 [GRCh38]
Chr19:13375742 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.368A>T (p.Asp123Val) single nucleotide variant Episodic ataxia type 2 [RCV000660501] Chr19:13455138 [GRCh38]
Chr19:13565952 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1038C>T (p.Ile346=) single nucleotide variant not provided [RCV000116513] Chr19:13335850 [GRCh38]
Chr19:13446664 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554425]|Episodic ataxia type 2 [RCV001511466]|Episodic ataxia type 2 [RCV001554426]|Inborn genetic diseases [RCV002311575]|Migraine, familial hemiplegic, 1 [RCV001554427]|Spinocerebellar ataxia type 6 [RCV001554428]|not specified [RCV000079475] Chr19:13334394 [GRCh38]
Chr19:13445208 [GRCh37]
Chr19:19p13.13		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) single nucleotide variant CACNA1A-related disorder [RCV003985267]|Episodic ataxia type 2 [RCV001083894]|Inborn genetic diseases [RCV002313755]|not provided [RCV000723660]|not specified [RCV000079476] Chr19:13312714 [GRCh38]
Chr19:13423528 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) single nucleotide variant Episodic ataxia type 2 [RCV000549526]|Episodic ataxia type 2 [RCV000576793]|Inborn genetic diseases [RCV002311576]|not specified [RCV000079478] Chr19:13286510 [GRCh38]
Chr19:13397324 [GRCh37]
Chr19:19p13.13		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554760]|Episodic ataxia type 2 [RCV000540374]|Episodic ataxia type 2 [RCV001554761]|Episodic ataxia type 2 [RCV002490692]|Inborn genetic diseases [RCV002311577]|Migraine, familial hemiplegic, 1 [RCV001554762]|Spinocerebellar ataxia type 6 [RCV001554763]|not provided [RCV001527803]|not specified [RCV000079479] Chr19:13208879 [GRCh38]
Chr19:13319693 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=) single nucleotide variant Episodic ataxia type 2 [RCV000540875]|Inborn genetic diseases [RCV002312046]|not provided [RCV001795160]|not specified [RCV000116514] Chr19:13312711 [GRCh38]
Chr19:13423525 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) single nucleotide variant Episodic ataxia type 2 [RCV000541175]|Inborn genetic diseases [RCV002312047]|not provided [RCV001795161]|not specified [RCV000116515] Chr19:13308421 [GRCh38]
Chr19:13419235 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) single nucleotide variant Episodic ataxia type 2 [RCV001511465]|Inborn genetic diseases [RCV002312048]|not specified [RCV000116516] Chr19:13303780 [GRCh38]
Chr19:13414594 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) single nucleotide variant Episodic ataxia type 2 [RCV000555117]|Inborn genetic diseases [RCV002312049]|not provided [RCV001573143]|not specified [RCV000116517] Chr19:13300637 [GRCh38]
Chr19:13411451 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) single nucleotide variant CACNA1A-related disorder [RCV003985269]|Episodic ataxia type 2 [RCV001081343]|Inborn genetic diseases [RCV002316297]|not provided [RCV000514339]|not specified [RCV000116518] Chr19:13298896 [GRCh38]
Chr19:13409710 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) single nucleotide variant CACNA1A-related disorder [RCV003985270]|Episodic ataxia type 2 [RCV000556399]|Inborn genetic diseases [RCV002316298]|not specified [RCV000116519] Chr19:13298894 [GRCh38]
Chr19:13409708 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) single nucleotide variant Episodic ataxia type 2 [RCV001084174]|Inborn genetic diseases [RCV002312050]|not provided [RCV000710944]|not specified [RCV000116522] Chr19:13298605 [GRCh38]
Chr19:13409419 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) single nucleotide variant Episodic ataxia type 2 [RCV001515627]|Inborn genetic diseases [RCV002312051]|not specified [RCV000116523] Chr19:13298576 [GRCh38]
Chr19:13409390 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) single nucleotide variant Episodic ataxia type 2 [RCV001083730]|Inborn genetic diseases [RCV002316299]|not provided [RCV000530595]|not specified [RCV000116524] Chr19:13286819 [GRCh38]
Chr19:13397633 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) single nucleotide variant Episodic ataxia type 2 [RCV001522001]|Inborn genetic diseases [RCV002312052]|not specified [RCV000116525] Chr19:13277090 [GRCh38]
Chr19:13387904 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=) single nucleotide variant Episodic ataxia type 2 [RCV000544757]|Episodic ataxia type 2 [RCV000576532]|Inborn genetic diseases [RCV002312053]|not specified [RCV000116526] Chr19:13452953 [GRCh38]
Chr19:13563767 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=) single nucleotide variant CACNA1A-related disorder [RCV003985271]|Episodic ataxia type 2 [RCV000548923]|Episodic ataxia type 2 [RCV000576739]|Inborn genetic diseases [RCV002312054]|not specified [RCV000116527] Chr19:13214601 [GRCh38]
Chr19:13325415 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) single nucleotide variant Episodic ataxia type 2 [RCV000524911]|Inborn genetic diseases [RCV002312055]|not provided [RCV001701599]|not specified [RCV000116528] Chr19:13371740 [GRCh38]
Chr19:13482554 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) single nucleotide variant Episodic ataxia type 2 [RCV000554807]|Episodic ataxia type 2 [RCV002490787]|Inborn genetic diseases [RCV002313860]|not provided [RCV000991681]|not specified [RCV000116529] Chr19:13209496 [GRCh38]
Chr19:13320310 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) single nucleotide variant Episodic ataxia type 2 [RCV000543853]|Episodic ataxia type 2 [RCV002498502]|Inborn genetic diseases [RCV002312056]|not provided [RCV000991682]|not specified [RCV000116530] Chr19:13209460 [GRCh38]
Chr19:13320274 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=) single nucleotide variant Episodic ataxia type 2 [RCV000653347]|Inborn genetic diseases [RCV002362744]|not provided [RCV000710976]|not specified [RCV000116531] Chr19:13365447 [GRCh38]
Chr19:13476261 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) single nucleotide variant Episodic ataxia type 2 [RCV001516028]|Inborn genetic diseases [RCV002312057]|not specified [RCV000116532] Chr19:13359708 [GRCh38]
Chr19:13470522 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.6736T>C (p.Ser2246Pro) single nucleotide variant Intellectual disability [RCV001251919] Chr19:13208800 [GRCh38]
Chr19:13319614 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr) single nucleotide variant Episodic ataxia type 2 [RCV001088856]|Inborn genetic diseases [RCV002321939]|not provided [RCV000726478] Chr19:13286701 [GRCh38]
Chr19:13397515 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.3629G>A (p.Gly1210Glu) single nucleotide variant Episodic ataxia type 2 [RCV001302574] Chr19:13285131 [GRCh38]
Chr19:13395945 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1215C>T (p.Ala405=) single nucleotide variant Episodic ataxia type 2 [RCV003767545]|not provided [RCV001707775] Chr19:13332909 [GRCh38]
Chr19:13443723 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6937CAG[16] (p.Gln2325_Ala2326insGlnGlnGln) microsatellite not provided [RCV002292980] Chr19:13207858..13207859 [GRCh38]
Chr19:13318672..13318673 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.5645T>C (p.Leu1882Pro) single nucleotide variant not provided [RCV002292982] Chr19:13224753 [GRCh38]
Chr19:13335567 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6359C>T (p.Pro2120Leu) single nucleotide variant not provided [RCV002288016] Chr19:13209479 [GRCh38]
Chr19:13320293 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2134G>T (p.Ala712Ser) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001292596] Chr19:13303584 [GRCh38]
Chr19:13414398 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3262G>A (p.Ala1088Thr) single nucleotide variant Episodic ataxia type 2 [RCV000543056]|Inborn genetic diseases [RCV002448793] Chr19:13286794 [GRCh38]
Chr19:13397608 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=) single nucleotide variant Episodic ataxia type 2 [RCV000653345]|Inborn genetic diseases [RCV002312711]|not specified [RCV000175154] Chr19:13303588 [GRCh38]
Chr19:13414402 [GRCh37]
Chr19:19p13.13		 benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.2683G>C (p.Gly895Arg) single nucleotide variant Episodic ataxia type 2 [RCV001302624]|not provided [RCV002275342] Chr19:13298950 [GRCh38]
Chr19:13409764 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3851C>T (p.Thr1284Ile) single nucleotide variant Episodic ataxia type 2 [RCV001302522] Chr19:13277100 [GRCh38]
Chr19:13387914 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) microsatellite Episodic ataxia type 2 [RCV000542519]|Episodic ataxia type 2 [RCV002500485]|Inborn genetic diseases [RCV002453622]|not provided [RCV002262772]|not specified [RCV000176171] Chr19:13285154..13285156 [GRCh38]
Chr19:13395968..13395970 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.3822+1G>A single nucleotide variant CACNA1A-related disorder [RCV003233483]|Developmental and epileptic encephalopathy, 42 [RCV003152690]|Episodic ataxia type 2 [RCV001852172]|Inborn genetic diseases [RCV001266258]|not provided [RCV000176279] Chr19:13283266 [GRCh38]
Chr19:13394080 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2075A>G (p.Tyr692Cys) single nucleotide variant Episodic ataxia type 2 [RCV001303492]|Episodic ataxia type 2 [RCV002272444] Chr19:13303796 [GRCh38]
Chr19:13414610 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.159G>T (p.Ala53=) single nucleotide variant Episodic ataxia type 2 [RCV001466366]|not provided [RCV000173215] Chr19:13506066 [GRCh38]
Chr19:13616880 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.613C>T (p.Leu205=) single nucleotide variant Episodic ataxia type 2 [RCV001348289] Chr19:13371706 [GRCh38]
Chr19:13482520 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1819C>T (p.Leu607Phe) single nucleotide variant Episodic ataxia type 2 [RCV001303194] Chr19:13308214 [GRCh38]
Chr19:13419028 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6303+94del deletion Developmental and epileptic encephalopathy, 42 [RCV001554417]|Episodic ataxia type 2 [RCV001554418]|Migraine, familial hemiplegic, 1 [RCV001554419]|Spinocerebellar ataxia type 6 [RCV001554420]|not provided [RCV001713049] Chr19:13212009 [GRCh38]
Chr19:13322823 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2599C>A (p.Arg867=) single nucleotide variant Episodic ataxia type 2 [RCV001348393] Chr19:13299034 [GRCh38]
Chr19:13409848 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1987-98C>T single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554768]|Episodic ataxia type 2 [RCV001554769]|Migraine, familial hemiplegic, 1 [RCV001554770]|Spinocerebellar ataxia type 6 [RCV001554771]|not provided [RCV001676062] Chr19:13303982 [GRCh38]
Chr19:13414796 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1199-31A>G single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554772]|Episodic ataxia type 2 [RCV001554773]|Migraine, familial hemiplegic, 1 [RCV001554774]|Spinocerebellar ataxia type 6 [RCV001554775]|not provided [RCV001673215] Chr19:13332956 [GRCh38]
Chr19:13443770 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.203G>A (p.Arg68Gln) single nucleotide variant Episodic ataxia type 2 [RCV001312855]|not provided [RCV001531295] Chr19:13506022 [GRCh38]
Chr19:13616836 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1668+9T>C single nucleotide variant not provided [RCV000174282] Chr19:13312660 [GRCh38]
Chr19:13423474 [GRCh37]
Chr19:19p13.13		 uncertain significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
NM_001127222.2(CACNA1A):c.1555+10A>C single nucleotide variant not provided [RCV000174038] Chr19:13317102 [GRCh38]
Chr19:13427916 [GRCh37]
Chr19:19p13.13		 uncertain significance
GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1 copy number loss See cases [RCV000135352] Chr19:13034666..13283686 [GRCh38]
Chr19:13145480..13394500 [GRCh37]
Chr19:13006480..13255500 [NCBI36]
Chr19:19p13.13		 pathogenic
GRCh38/hg38 19p13.13(chr19:12978943-13236134)x3 copy number gain See cases [RCV000136559] Chr19:12978943..13236134 [GRCh38]
Chr19:13089757..13346948 [GRCh37]
Chr19:12950757..13207948 [NCBI36]
Chr19:19p13.13		 likely pathogenic|uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 copy number loss See cases [RCV000135937] Chr19:12580427..14742673 [GRCh38]
Chr19:12691241..14853485 [GRCh37]
Chr19:12552241..14714485 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic|likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.13(chr19:12974394-13408586)x1 copy number loss See cases [RCV000138197] Chr19:12974394..13408586 [GRCh38]
Chr19:13085208..13519400 [GRCh37]
Chr19:12946208..13380400 [NCBI36]
Chr19:19p13.13		 pathogenic
NM_001127221.1(CACNA1A):c.2988_2989insGAGGGC (p.Gly996_Pro997insGluGly) insertion not specified [RCV000175408] Chr19:13298647..13298648 [GRCh38]
Chr19:13409461..13409462 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) single nucleotide variant CACNA1A-related disorder [RCV003985285]|Developmental and epileptic encephalopathy, 42 [RCV000660566]|Episodic ataxia type 2 [RCV001080527]|Inborn genetic diseases [RCV000210670]|Intellectual disability [RCV001251922]|not provided [RCV000432960]|not specified [RCV000175409] Chr19:13298593 [GRCh38]
Chr19:13409407 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His) single nucleotide variant Episodic ataxia type 2 [RCV000693394]|Inborn genetic diseases [RCV002362804]|not provided [RCV000723815] Chr19:13209344 [GRCh38]
Chr19:13320158 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) single nucleotide variant CACNA1A-related disorder [RCV003985281]|Episodic ataxia type 2 [RCV000653362]|Inborn genetic diseases [RCV002312985]|not provided [RCV001701689]|not specified [RCV000152896] Chr19:13255218 [GRCh38]
Chr19:13366032 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del) microsatellite Developmental and epileptic encephalopathy, 42 [RCV001262316]|Episodic ataxia type 2 [RCV000653338]|Inborn genetic diseases [RCV002453623]|not provided [RCV000710951] Chr19:13285143..13285145 [GRCh38]
Chr19:13395957..13395959 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile) single nucleotide variant Episodic ataxia type 2 [RCV001048020]|not provided [RCV000724751]|not specified [RCV000176046] Chr19:13286620 [GRCh38]
Chr19:13397434 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) single nucleotide variant CACNA1A-related disorder [RCV003985286]|Episodic ataxia type 2 [RCV001085354]|Inborn genetic diseases [RCV002317020]|not provided [RCV000710088]|not specified [RCV000176047] Chr19:13286647 [GRCh38]
Chr19:13397461 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) single nucleotide variant Episodic ataxia type 2 [RCV001080024]|Inborn genetic diseases [RCV002453620]|not provided [RCV000723917]|not specified [RCV000176048] Chr19:13286747 [GRCh38]
Chr19:13397561 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 19p13.13(chr19:13408530-13493692)x1 copy number loss Episodic ataxia type 2 [RCV000169642] Chr19:13408530..13493692 [GRCh38]
Chr19:13519344..13604506 [GRCh37]
Chr19:13380344..13465506 [NCBI36]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2865del (p.Arg956fs) deletion Episodic ataxia type 2 [RCV000169640] Chr19:13298768 [GRCh38]
Chr19:13409582 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.631+5G>A single nucleotide variant CACNA1A-related disorder [RCV003985284]|Episodic ataxia type 2 [RCV000169641]|Episodic ataxia type 2 [RCV001052102]|not provided [RCV000996802] Chr19:13371683 [GRCh38]
Chr19:13482497 [GRCh37]
Chr19:19p13.13		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln) single nucleotide variant Episodic ataxia type 2 [RCV000816451]|not provided [RCV000178567] Chr19:13209440 [GRCh38]
Chr19:13320254 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6737C>T (p.Ser2246Phe) single nucleotide variant Episodic ataxia type 2 [RCV001315464]|Inborn genetic diseases [RCV002515266]|not provided [RCV000178595] Chr19:13208799 [GRCh38]
Chr19:13319613 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6659ACC[3] (p.His2217_His2219dup) microsatellite Episodic ataxia type 2 [RCV002517739]|not provided [RCV000178596] Chr19:13208877..13208878 [GRCh38]
Chr19:13319691..13319692 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV000604986]|Episodic ataxia type 2 [RCV000415108]|Episodic ataxia type 2 [RCV000662177]|Episodic ataxia type 2 [RCV001061471]|Episodic ataxia type 2 [RCV002227083]|Inborn genetic diseases [RCV000623848]|Migraine [RCV000662176]|Migraine, familial hemiplegic, 1 [RCV000662179]|Spinocerebellar ataxia type 6 [RCV000662178]|not provided [RCV000176622] Chr19:13261526 [GRCh38]
Chr19:13372340 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002298504]|Episodic ataxia type 2 [RCV001852195]|not provided [RCV000177634] Chr19:13235667 [GRCh38]
Chr19:13346481 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr) single nucleotide variant Episodic ataxia type 2 [RCV000700115]|not provided [RCV000177732] Chr19:13235247 [GRCh38]
Chr19:13346061 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) single nucleotide variant CACNA1A-related disorder [RCV003985288]|Episodic ataxia type 2 [RCV001089248]|Inborn genetic diseases [RCV002317042]|not provided [RCV000724441] Chr19:13224713 [GRCh38]
Chr19:13335527 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) single nucleotide variant Episodic ataxia type 2 [RCV000197857]|Episodic ataxia type 2 [RCV001248022]|not provided [RCV001281644] Chr19:13359680 [GRCh38]
Chr19:13470494 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) insertion CACNA1A-related disorder [RCV003985299]|Episodic ataxia type 2 [RCV000553004]|Inborn genetic diseases [RCV002314791]|not provided [RCV000439187]|not specified [RCV000194930] Chr19:13208877..13208878 [GRCh38]
Chr19:13319691..13319692 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) single nucleotide variant Episodic ataxia type 2 [RCV000764184]|Episodic ataxia type 2 [RCV003765213]|not provided [RCV001289293]|not specified [RCV000194067] Chr19:13371726 [GRCh38]
Chr19:13482540 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.1082+1G>A single nucleotide variant Episodic ataxia type 2 [RCV000544536] Chr19:13335805 [GRCh38]
Chr19:13446619 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg) single nucleotide variant Episodic ataxia type 2 [RCV000547039]|Inborn genetic diseases [RCV000622365]|not provided [RCV001731780] Chr19:13231850 [GRCh38]
Chr19:13342664 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.1170T>C (p.Asn390=) single nucleotide variant Episodic ataxia type 2 [RCV001406895] Chr19:13334406 [GRCh38]
Chr19:13445220 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.654G>A (p.Ser218=) single nucleotide variant Episodic ataxia type 2 [RCV001463943]|not specified [RCV001662604] Chr19:13365447 [GRCh38]
Chr19:13476261 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3843C>G (p.Tyr1281Ter) single nucleotide variant Episodic ataxia type 2 [RCV000754874] Chr19:13277108 [GRCh38]
Chr19:13387922 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2488A>G (p.Asn830Asp) single nucleotide variant Episodic ataxia type 2 [RCV001725876] Chr19:13299145 [GRCh38]
Chr19:13409959 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=) single nucleotide variant Episodic ataxia type 2 [RCV001078798]|Inborn genetic diseases [RCV002341204]|not provided [RCV000951188]|not specified [RCV000517347] Chr19:13235013 [GRCh38]
Chr19:13345827 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2043G>A (p.Gly681=) single nucleotide variant Episodic ataxia type 2 [RCV001494820] Chr19:13303828 [GRCh38]
Chr19:13414642 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2889G>A (p.Arg963=) single nucleotide variant Episodic ataxia type 2 [RCV001411279]|not specified [RCV000610236] Chr19:13298744 [GRCh38]
Chr19:13409558 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2067_2068delinsGGAG (p.Phe689fs) indel Episodic ataxia type 2 [RCV000767342] Chr19:13303803..13303804 [GRCh38]
Chr19:13414617..13414618 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup) microsatellite Episodic ataxia type 2 [RCV001476380]|Episodic ataxia type 2 [RCV002485449]|not provided [RCV000224151]|not specified [RCV001529075] Chr19:13207858..13207859 [GRCh38]
Chr19:13318672..13318673 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.6964_6965insCAG (p.Gln2322delinsProGlu) insertion not specified [RCV000239315] Chr19:13207869..13207870 [GRCh38]
Chr19:13318683..13318684 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4052G>T (p.Arg1351Leu) single nucleotide variant CACNA1A-related disorder [RCV003985376]|not provided [RCV000520242] Chr19:13262771 [GRCh38]
Chr19:13373585 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2144A>C (p.Asn715Thr) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV000578415] Chr19:13303574 [GRCh38]
Chr19:13414388 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.4174G>C (p.Val1392Leu) single nucleotide variant not provided [RCV000351396] Chr19:13261526 [GRCh38]
Chr19:13372340 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) single nucleotide variant CACNA1A-related disorder [RCV003985371]|Episodic ataxia type 2 [RCV001088191]|Inborn genetic diseases [RCV002316466]|not provided [RCV000539804]|not specified [RCV000517172] Chr19:13259641 [GRCh38]
Chr19:13370455 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.3261_3316del (p.Leu1090fs) deletion not provided [RCV000517922] Chr19:13286740..13286795 [GRCh38]
Chr19:13397554..13397609 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3520T>G (p.Cys1174Gly) single nucleotide variant Episodic ataxia type 2 [RCV001236106]|not provided [RCV000519991] Chr19:13286536 [GRCh38]
Chr19:13397350 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3750C>T (p.Leu1250=) single nucleotide variant Episodic ataxia type 2 [RCV003767555]|not specified [RCV000604765] Chr19:13283339 [GRCh38]
Chr19:13394153 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3236C>A (p.Ala1079Asp) single nucleotide variant not provided [RCV000487498] Chr19:13286820 [GRCh38]
Chr19:13397634 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2890C>T (p.Pro964Ser) single nucleotide variant Episodic ataxia type 2 [RCV000764182]|not specified [RCV000518651] Chr19:13298743 [GRCh38]
Chr19:13409557 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu) single nucleotide variant Episodic ataxia type 2 [RCV000764177]|Episodic ataxia type 2 [RCV001302457]|Inborn genetic diseases [RCV002316467]|not specified [RCV000517121] Chr19:13209407 [GRCh38]
Chr19:13320221 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1345+7C>T single nucleotide variant Episodic ataxia type 2 [RCV000546034]|Episodic ataxia type 2 [RCV000576692]|not provided [RCV001726075]|not specified [RCV000244066] Chr19:13330237 [GRCh38]
Chr19:13441051 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.1914-4G>A single nucleotide variant Episodic ataxia type 2 [RCV000653358]|Inborn genetic diseases [RCV002313979]|not provided [RCV001697597]|not specified [RCV000244311] Chr19:13307858 [GRCh38]
Chr19:13418672 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.2173-12C>T single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554764]|Episodic ataxia type 2 [RCV001511464]|Episodic ataxia type 2 [RCV001554765]|Migraine, familial hemiplegic, 1 [RCV001554766]|Spinocerebellar ataxia type 6 [RCV001554767]|not specified [RCV000254266] Chr19:13300668 [GRCh38]
Chr19:13411482 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6837G>A (p.Pro2279=) single nucleotide variant not specified [RCV000242171] Chr19:13207997 [GRCh38]
Chr19:13318811 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1360C>T (p.Arg454Ter) single nucleotide variant Episodic ataxia type 2 [RCV001383649]|not provided [RCV000256093] Chr19:13317307 [GRCh38]
Chr19:13428121 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) single nucleotide variant Episodic ataxia type 2 [RCV001083550]|Episodic ataxia type 2 [RCV002503933]|Inborn genetic diseases [RCV002317782]|not provided [RCV000653367]|not specified [RCV000247429] Chr19:13317149 [GRCh38]
Chr19:13427963 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr) single nucleotide variant Abnormality of the nervous system [RCV001814128]|Developmental and epileptic encephalopathy, 42 [RCV000240888]|Episodic ataxia type 2 [RCV000763034]|Episodic ataxia type 2 [RCV001380078]|Episodic ataxia type 2 [RCV002227102]|Episodic ataxia type 2 [RCV002274954]|Inborn genetic diseases [RCV000623106]|not provided [RCV000255263] Chr19:13303584 [GRCh38]
Chr19:13414398 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|not provided
NM_001127222.2(CACNA1A):c.4519G>T (p.Ala1507Ser) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV000240915] Chr19:13257421 [GRCh38]
Chr19:13368235 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.301G>C (p.Glu101Gln) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV000240952] Chr19:13455205 [GRCh38]
Chr19:13566019 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=) single nucleotide variant not provided [RCV001795439]|not specified [RCV000245581] Chr19:13207403 [GRCh38]
Chr19:13318217 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.3170A>C (p.Gln1057Pro) single nucleotide variant Episodic ataxia type 2 [RCV000800133]|not provided [RCV000519663] Chr19:13286886 [GRCh38]
Chr19:13397700 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs) duplication Spinocerebellar ataxia type 6 [RCV001336210]|not provided [RCV000520747] Chr19:13298673..13298674 [GRCh38]
Chr19:13409487..13409488 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.5401-14C>T single nucleotide variant Episodic ataxia type 2 [RCV001518080]|not specified [RCV000253259] Chr19:13230223 [GRCh38]
Chr19:13341037 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2833G>A (p.Gly945Arg) single nucleotide variant Episodic ataxia type 2 [RCV001203503]|not provided [RCV001731742]|not specified [RCV000516858] Chr19:13298800 [GRCh38]
Chr19:13409614 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) single nucleotide variant Episodic ataxia type 2 [RCV001083052]|Inborn genetic diseases [RCV002338835]|not provided [RCV000725282]|not specified [RCV000374998] Chr19:13286525 [GRCh38]
Chr19:13397339 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) single nucleotide variant CACNA1A-related disorder [RCV003985313]|Episodic ataxia type 2 [RCV001085613]|Inborn genetic diseases [RCV002314000]|not provided [RCV000725223]|not specified [RCV000274808] Chr19:13261479 [GRCh38]
Chr19:13372293 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.3092A>G (p.Glu1031Gly) single nucleotide variant not provided [RCV000306857] Chr19:13286964 [GRCh38]
Chr19:13397778 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val) single nucleotide variant Episodic ataxia type 2 [RCV001040372]|not provided [RCV000344424] Chr19:13212149 [GRCh38]
Chr19:13322963 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.592C>G (p.Arg198Gly) single nucleotide variant not provided [RCV000381075] Chr19:13371727 [GRCh38]
Chr19:13482541 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) single nucleotide variant Episodic ataxia type 2 [RCV000560013]|Inborn genetic diseases [RCV002314004]|not provided [RCV001718575]|not specified [RCV000312001] Chr19:13298955 [GRCh38]
Chr19:13409769 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) single nucleotide variant Episodic ataxia type 2 [RCV000556625]|Inborn genetic diseases [RCV002314030]|not provided [RCV000726322]|not specified [RCV000345600] Chr19:13209374 [GRCh38]
Chr19:13320188 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.4102T>C (p.Cys1368Arg) single nucleotide variant Episodic ataxia type 2 [RCV000802158]|not provided [RCV000317331] Chr19:13261598 [GRCh38]
Chr19:13372412 [GRCh37]
Chr19:19p13.13		 pathogenic|uncertain significance
NM_001127221.1(CACNA1A):c.6659_6660insCCA (p.His2220_Pro2221insHis) insertion not specified [RCV000313658] Chr19:13208879..13208880 [GRCh38]
Chr19:13319693..13319694 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=) single nucleotide variant CACNA1A-related disorder [RCV003985314]|Episodic ataxia type 2 [RCV001085198]|Inborn genetic diseases [RCV002429219]|not provided [RCV000725442] Chr19:13298957 [GRCh38]
Chr19:13409771 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) single nucleotide variant Episodic ataxia type 2 [RCV000534837]|Inborn genetic diseases [RCV002317804]|not provided [RCV001711852]|not specified [RCV000347408] Chr19:13312765 [GRCh38]
Chr19:13423579 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.4089+3G>A single nucleotide variant Episodic ataxia type 2 [RCV000804448]|not provided [RCV000349950] Chr19:13262731 [GRCh38]
Chr19:13373545 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) single nucleotide variant CACNA1A-related disorder [RCV003985316]|Episodic ataxia type 2 [RCV001087304]|Inborn genetic diseases [RCV002450820]|not provided [RCV000415907]|not specified [RCV000351406] Chr19:13285142 [GRCh38]
Chr19:13395956 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=) single nucleotide variant CACNA1A-related disorder [RCV003985320]|Episodic ataxia type 2 [RCV001458213]|not provided [RCV000320967] Chr19:13286531 [GRCh38]
Chr19:13397345 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.4067T>G (p.Ile1356Ser) single nucleotide variant not provided [RCV000374232] Chr19:13262756 [GRCh38]
Chr19:13373570 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) single nucleotide variant Episodic ataxia type 2 [RCV001086862]|Inborn genetic diseases [RCV002317818]|not provided [RCV000726034]|not specified [RCV000290103] Chr19:13317272 [GRCh38]
Chr19:13428086 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.330G>A (p.Ala110=) single nucleotide variant Episodic ataxia type 2 [RCV001441087]|not provided [RCV000291104] Chr19:13455176 [GRCh38]
Chr19:13565990 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=) single nucleotide variant Episodic ataxia type 2 [RCV001441403]|Inborn genetic diseases [RCV002348012]|not provided [RCV000291792]|not specified [RCV001660551] Chr19:13231794 [GRCh38]
Chr19:13342608 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys) single nucleotide variant Episodic ataxia type 2 [RCV000814374]|Episodic ataxia type 2 [RCV002494856]|not provided [RCV000324227] Chr19:13334406 [GRCh38]
Chr19:13445220 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.978+9T>C single nucleotide variant CACNA1A-related disorder [RCV003985318]|Episodic ataxia type 2 [RCV001087586]|not provided [RCV000726240]|not specified [RCV000357921] Chr19:13359597 [GRCh38]
Chr19:13470411 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=) single nucleotide variant Episodic ataxia type 2 [RCV001080386]|Inborn genetic diseases [RCV002317808]|not provided [RCV000725399] Chr19:13224746 [GRCh38]
Chr19:13335560 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.6770C>T (p.Ala2257Val) single nucleotide variant Episodic ataxia type 2 [RCV001044457]|Inborn genetic diseases [RCV004021263]|not provided [RCV000260147]|not specified [RCV003235180] Chr19:13208766 [GRCh38]
Chr19:13319580 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del) microsatellite Episodic ataxia type 2 [RCV001859533]|Migraine, familial hemiplegic, 1 [RCV001267828]|Spinocerebellar ataxia type 6 [RCV001808726]|not provided [RCV000403867] Chr19:13257438..13257440 [GRCh38]
Chr19:13368252..13368254 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2127G>T (p.Leu709Phe) single nucleotide variant Episodic ataxia type 2 [RCV003765579]|not provided [RCV000404656] Chr19:13303591 [GRCh38]
Chr19:13414405 [GRCh37]
Chr19:19p13.13		 pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn) single nucleotide variant Episodic ataxia type 2 [RCV001069865]|not provided [RCV000725882] Chr19:13235000 [GRCh38]
Chr19:13345814 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=) single nucleotide variant Episodic ataxia type 2 [RCV003105846]|not provided [RCV000367118] Chr19:13259662 [GRCh38]
Chr19:13370476 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2737_2739delinsTCT (p.Pro913Ser) indel not provided [RCV000991664]|not specified [RCV000401942] Chr19:13298894..13298896 [GRCh38]
Chr19:13409708..13409710 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser) single nucleotide variant CACNA1A-related disorder [RCV003985317]|Episodic ataxia type 2 [RCV000951926]|Inborn genetic diseases [RCV002418122]|not provided [RCV001718581]|not specified [RCV000267165] Chr19:13359788 [GRCh38]
Chr19:13470602 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.5133+10G>A single nucleotide variant Episodic ataxia type 2 [RCV001080437]|not provided [RCV000725222]|not specified [RCV000333600] Chr19:13235199 [GRCh38]
Chr19:13346013 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=) single nucleotide variant Episodic ataxia type 2 [RCV001454207]|not provided [RCV000334292] Chr19:13332891 [GRCh38]
Chr19:13443705 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.1389G>A (p.Glu463=) single nucleotide variant Episodic ataxia type 2 [RCV001088343]|not provided [RCV000269310] Chr19:13317278 [GRCh38]
Chr19:13428092 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.5732-6T>C single nucleotide variant CACNA1A-related disorder [RCV003985315]|Episodic ataxia type 2 [RCV000653357]|not specified [RCV000301024] Chr19:13214614 [GRCh38]
Chr19:13325428 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6066C>T (p.Ser2022=) single nucleotide variant Episodic ataxia type 2 [RCV001439136]|not provided [RCV000406663] Chr19:13212507 [GRCh38]
Chr19:13323321 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3817AAC[1] (p.Asn1274del) microsatellite Episodic ataxia type 2 [RCV000686604]|not provided [RCV000489038] Chr19:13283267..13283269 [GRCh38]
Chr19:13394081..13394083 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1171G>A (p.Gly391Arg) single nucleotide variant Episodic ataxia type 2 [RCV000653325]|not provided [RCV000489213] Chr19:13334405 [GRCh38]
Chr19:13445219 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) single nucleotide variant CACNA1A-related disorder [RCV003313959]|not provided [RCV000489287] Chr19:13452889 [GRCh38]
Chr19:13563703 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile) single nucleotide variant Episodic ataxia type 2 [RCV002481551]|not provided [RCV000489364] Chr19:13214293 [GRCh38]
Chr19:13325107 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2833G>C (p.Gly945Arg) single nucleotide variant not provided [RCV000519819] Chr19:13298800 [GRCh38]
Chr19:13409614 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6656_6657delinsCC (p.His2219Pro) indel Episodic ataxia type 2 [RCV001856899]|not provided [RCV000489489] Chr19:13208879..13208880 [GRCh38]
Chr19:13319693..13319694 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1782-5G>A single nucleotide variant Episodic ataxia type 2 [RCV001851314]|not provided [RCV000489597] Chr19:13308256 [GRCh38]
Chr19:13419070 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2879C>T (p.Ala960Val) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001823144]|Episodic ataxia type 2 [RCV001237622]|not provided [RCV000489666] Chr19:13298754 [GRCh38]
Chr19:13409568 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.329C>T (p.Ala110Val) single nucleotide variant not provided [RCV000489790] Chr19:13455177 [GRCh38]
Chr19:13565991 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del) microsatellite Developmental and epileptic encephalopathy, 42 [RCV001554756]|Episodic ataxia type 2 [RCV001554757]|Migraine, familial hemiplegic, 1 [RCV001554758]|Spinocerebellar ataxia type 6 [RCV001554759]|not provided [RCV000514574]|not specified [RCV001529954] Chr19:13207859..13207864 [GRCh38]
Chr19:13318673..13318678 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.5529-1098AT[8] microsatellite not provided [RCV001547259] Chr19:13228606..13228609 [GRCh38]
Chr19:13339420..13339423 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3911A>C (p.Gln1304Pro) single nucleotide variant Episodic ataxia type 2 [RCV001059864]|not specified [RCV000518770] Chr19:13275928 [GRCh38]
Chr19:13386742 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.561G>A (p.Thr187=) single nucleotide variant Episodic ataxia type 2 [RCV000980104]|not provided [RCV001696823]|not specified [RCV000518631] Chr19:13371758 [GRCh38]
Chr19:13482572 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4669C>T (p.Arg1557Cys) single nucleotide variant not provided [RCV003221613] Chr19:13255181 [GRCh38]
Chr19:13365995 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6128G>A (p.Gly2043Asp) single nucleotide variant Episodic ataxia type 2 [RCV001368051] Chr19:13212445 [GRCh38]
Chr19:13323259 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5528+1273T>C single nucleotide variant Episodic ataxia type 2 [RCV002063154]|not specified [RCV000603254] Chr19:13228809 [GRCh38]
Chr19:13339623 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3355G>C (p.Ala1119Pro) single nucleotide variant Episodic ataxia type 2 [RCV001046221]|not provided [RCV000489868] Chr19:13286701 [GRCh38]
Chr19:13397515 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001262317]|Episodic ataxia type 2 [RCV000818299]|Inborn genetic diseases [RCV002525994]|not provided [RCV000488137] Chr19:13286509 [GRCh38]
Chr19:13397323 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.3764T>C (p.Met1255Thr) single nucleotide variant Episodic ataxia type 2 [RCV002523412]|not provided [RCV000489907] Chr19:13283325 [GRCh38]
Chr19:13394139 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4067_4069del (p.Ile1356del) deletion Developmental and epileptic encephalopathy, 42 [RCV002284612] Chr19:13262754..13262756 [GRCh38]
Chr19:13373568..13373570 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1739T>A (p.Val580Glu) single nucleotide variant not provided [RCV000488178] Chr19:13308458 [GRCh38]
Chr19:13419272 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6043G>T (p.Gly2015Ter) single nucleotide variant not provided [RCV000488333] Chr19:13212638 [GRCh38]
Chr19:13323452 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6937CAG[9] (p.Gln2322_Gln2325del) microsatellite CACNA1A-related disorder [RCV003985560]|not provided [RCV002292981] Chr19:13207859..13207870 [GRCh38]
Chr19:13318673..13318684 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.5529-1215C>G single nucleotide variant not provided [RCV002292983] Chr19:13228742 [GRCh38]
Chr19:13339556 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys) single nucleotide variant Episodic ataxia type 2 [RCV000973841]|Episodic ataxia type 2 [RCV002506190]|Inborn genetic diseases [RCV002314845]|not provided [RCV001722411] Chr19:13212512 [GRCh38]
Chr19:13323326 [GRCh37]
Chr19:19p13.13		 benign|likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6646C>T (p.His2216Tyr) single nucleotide variant Episodic ataxia type 2 [RCV001856896]|not provided [RCV000490155] Chr19:13208890 [GRCh38]
Chr19:13319704 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln) single nucleotide variant Episodic ataxia type 2 [RCV001364368]|Inborn genetic diseases [RCV000624453]|not provided [RCV000488982] Chr19:13212203 [GRCh38]
Chr19:13323017 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.632G>A (p.Ser211Asn) single nucleotide variant Episodic ataxia type 2 [RCV002526036]|not provided [RCV000489005] Chr19:13365469 [GRCh38]
Chr19:13476283 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2105-15C>T single nucleotide variant Episodic ataxia type 2 [RCV000764183]|Episodic ataxia type 2 [RCV002060279]|not provided [RCV000520969] Chr19:13303628 [GRCh38]
Chr19:13414442 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2391G>A (p.Met797Ile) single nucleotide variant Episodic ataxia type 2 [RCV003766909]|not provided [RCV000517699] Chr19:13299242 [GRCh38]
Chr19:13410056 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4388+8G>A single nucleotide variant CACNA1A-related disorder [RCV003985372]|Episodic ataxia type 2 [RCV000912041]|not specified [RCV000518036] Chr19:13259556 [GRCh38]
Chr19:13370370 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.7052G>A (p.Gly2351Glu) single nucleotide variant not provided [RCV001572915]|not specified [RCV000518411] Chr19:13207782 [GRCh38]
Chr19:13318596 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr) single nucleotide variant Episodic ataxia type 2 [RCV000807225]|not provided [RCV001528226]|not specified [RCV000518729] Chr19:13212668 [GRCh38]
Chr19:13323482 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2749G>A (p.Glu917Lys) single nucleotide variant Episodic ataxia type 2 [RCV000653339]|not provided [RCV000522662] Chr19:13298884 [GRCh38]
Chr19:13409698 [GRCh37]
Chr19:19p13.13		 benign|uncertain significance
NM_001127222.2(CACNA1A):c.6210G>A (p.Met2070Ile) single nucleotide variant not specified [RCV000518784] Chr19:13212196 [GRCh38]
Chr19:13323010 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) single nucleotide variant Episodic ataxia type 2 [RCV001069420]|Spinocerebellar ataxia type 6 [RCV001333785]|not provided [RCV000658820] Chr19:13212680 [GRCh38]
Chr19:13323494 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2124C>A (p.Phe708Leu) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV000622937] Chr19:13303594 [GRCh38]
Chr19:13414408 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3304G>A (p.Asp1102Asn) single nucleotide variant CACNA1A-related disorder [RCV003985393]|Episodic ataxia type 2 [RCV000653354]|Inborn genetic diseases [RCV002317366]|not provided [RCV000600448] Chr19:13286752 [GRCh38]
Chr19:13397566 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003230272]|Episodic ataxia type 2 [RCV000656726]|Episodic ataxia type 2 [RCV001035721]|Episodic ataxia type 2 [RCV002227194]|Episodic ataxia type 2 [RCV003233795]|Inborn genetic diseases [RCV004025995]|Spinocerebellar ataxia type 6 [RCV001849186]|not provided [RCV000991686] Chr19:13359749 [GRCh38]
Chr19:13470563 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001127222.2(CACNA1A):c.7424G>T (p.Gly2475Val) single nucleotide variant Inborn genetic diseases [RCV000624383] Chr19:13207410 [GRCh38]
Chr19:13318224 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3518C>G (p.Ala1173Gly) single nucleotide variant not provided [RCV001092216] Chr19:13286538 [GRCh38]
Chr19:13397352 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1030A>C (p.Ile344Leu) single nucleotide variant not provided [RCV001092226] Chr19:13335858 [GRCh38]
Chr19:13446672 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6055G>T (p.Ala2019Ser) single nucleotide variant Episodic ataxia type 2 [RCV002525182]|Inborn genetic diseases [RCV002525183]|not provided [RCV000710968] Chr19:13212518 [GRCh38]
Chr19:13323332 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1320T>C (p.Asp440=) single nucleotide variant not provided [RCV000592706] Chr19:13330269 [GRCh38]
Chr19:13441083 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.784+9A>G single nucleotide variant Episodic ataxia type 2 [RCV001441336]|not specified [RCV000516732] Chr19:13365308 [GRCh38]
Chr19:13476122 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2280-5T>A single nucleotide variant not specified [RCV000517115] Chr19:13299358 [GRCh38]
Chr19:13410172 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1586_1587del (p.Phe529fs) deletion Episodic ataxia type 2 [RCV003458467]|not provided [RCV000599194] Chr19:13312750..13312751 [GRCh38]
Chr19:13423564..13423565 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3090-5C>T single nucleotide variant Episodic ataxia type 2 [RCV001462762]|Episodic ataxia type 2 [RCV002265814]|not provided [RCV000593263] Chr19:13286971 [GRCh38]
Chr19:13397785 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6155dup (p.Thr2053fs) duplication Episodic ataxia type 2 [RCV003767418]|not provided [RCV000599124] Chr19:13212417..13212418 [GRCh38]
Chr19:13323231..13323232 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.928_931del (p.Thr310fs) deletion Episodic ataxia type 2 [RCV000817590] Chr19:13359653..13359656 [GRCh38]
Chr19:13470467..13470470 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2903del (p.Gly968fs) deletion not provided [RCV000599266] Chr19:13298730 [GRCh38]
Chr19:13409544 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6729G>T (p.Gln2243His) single nucleotide variant Episodic ataxia type 2 [RCV000816306] Chr19:13208807 [GRCh38]
Chr19:13319621 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002272299]|Episodic ataxia type 2 [RCV000818527]|not provided [RCV000593477] Chr19:13230191 [GRCh38]
Chr19:13341005 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.1255+2dup duplication not provided [RCV001697321] Chr19:13332866..13332867 [GRCh38]
Chr19:13443680..13443681 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3823-15T>A single nucleotide variant not specified [RCV000606679] Chr19:13277143 [GRCh38]
Chr19:13387957 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.632-7C>A single nucleotide variant Episodic ataxia type 2 [RCV003767484]|not specified [RCV000603895] Chr19:13365476 [GRCh38]
Chr19:13476290 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4047G>T (p.Val1349=) single nucleotide variant Episodic ataxia type 2 [RCV003766969]|not provided [RCV000522319] Chr19:13262776 [GRCh38]
Chr19:13373590 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.27G>T (p.Pro9=) single nucleotide variant Episodic ataxia type 2 [RCV002062890]|not provided [RCV001731808] Chr19:13506198 [GRCh38]
Chr19:13617012 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2337T>C (p.Ser779=) single nucleotide variant Episodic ataxia type 2 [RCV002064095]|not specified [RCV000604831] Chr19:13299296 [GRCh38]
Chr19:13410110 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6190-4G>A single nucleotide variant Episodic ataxia type 2 [RCV001446682]|not provided [RCV001712673] Chr19:13212220 [GRCh38]
Chr19:13323034 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4708A>T (p.Thr1570Ser) single nucleotide variant not provided [RCV000522330] Chr19:13255142 [GRCh38]
Chr19:13365956 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2265C>T (p.Asn755=) single nucleotide variant Episodic ataxia type 2 [RCV001500248]|not specified [RCV000518538] Chr19:13300564 [GRCh38]
Chr19:13411378 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2852C>T (p.Ala951Val) single nucleotide variant Episodic ataxia type 2 [RCV002531075]|not provided [RCV000592082] Chr19:13298781 [GRCh38]
Chr19:13409595 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1434C>G (p.Tyr478Ter) single nucleotide variant Episodic ataxia type 2 [RCV000814263] Chr19:13317233 [GRCh38]
Chr19:13428047 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2483A>G (p.Gln828Arg) single nucleotide variant Episodic ataxia type 2 [RCV001861436]|not specified [RCV000414678] Chr19:13299150 [GRCh38]
Chr19:13409964 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.-42C>A single nucleotide variant not specified [RCV000414729] Chr19:13506266 [GRCh38]
Chr19:13617080 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del) deletion CACNA1A-related disorder [RCV003985325]|Episodic ataxia type 2 [RCV000801408]|Subependymal giant-cell astrocytoma [RCV000678780]|not provided [RCV000415764] Chr19:13299034..13299051 [GRCh38]
Chr19:13409848..13409865 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His) single nucleotide variant Episodic ataxia type 2 [RCV001882665]|SUDDEN INFANT DEATH SYNDROME [RCV001788589]|not provided [RCV001564629] Chr19:13286691 [GRCh38]
Chr19:13397505 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4173_4174insATCTTC (p.Ala1391_Val1392insIlePhe) insertion Episodic ataxia type 2 [RCV000816137]|not provided [RCV001840735] Chr19:13261526..13261527 [GRCh38]
Chr19:13372340..13372341 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5048C>T (p.Thr1683Ile) single nucleotide variant not provided [RCV000735040] Chr19:13235633 [GRCh38]
Chr19:13346447 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4009G>T (p.Asp1337Tyr) single nucleotide variant Spinocerebellar ataxia type 6 [RCV000755738] Chr19:13262814 [GRCh38]
Chr19:13373628 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1690G>A (p.Glu564Lys) single nucleotide variant Episodic ataxia type 2 [RCV001232170]|not provided [RCV000415871] Chr19:13308507 [GRCh38]
Chr19:13419321 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1067T>C (p.Leu356Pro) single nucleotide variant Episodic ataxia type 2 [RCV001862154]|not provided [RCV000728587] Chr19:13335821 [GRCh38]
Chr19:13446635 [GRCh37]
Chr19:19p13.13		 pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.2131A>T (p.Ile711Phe) single nucleotide variant not provided [RCV000730037] Chr19:13303587 [GRCh38]
Chr19:13414401 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2620T>G (p.Ser874Ala) single nucleotide variant Episodic ataxia type 2 [RCV000543635]|not provided [RCV000416083] Chr19:13299013 [GRCh38]
Chr19:13409827 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp) single nucleotide variant Cerebellar ataxia [RCV000415249]|Episodic ataxia type 2 [RCV000803741]|not provided [RCV001753849] Chr19:13371745 [GRCh38]
Chr19:13482559 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.41_55dup (p.Gly14_Gly18dup) duplication not provided [RCV000416107] Chr19:13506169..13506170 [GRCh38]
Chr19:13616983..13616984 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5400+2T>C single nucleotide variant not provided [RCV000416213] Chr19:13231708 [GRCh38]
Chr19:13342522 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile) single nucleotide variant Episodic ataxia type 2 [RCV000525516]|Inborn genetic diseases [RCV002456255]|not provided [RCV000710950] Chr19:13286512 [GRCh38]
Chr19:13397326 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.6706G>T (p.Gly2236Cys) single nucleotide variant Episodic ataxia type 2 [RCV000528853] Chr19:13208830 [GRCh38]
Chr19:13319644 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.745A>G (p.Met249Val) single nucleotide variant Episodic ataxia type 2 [RCV000529332]|Inborn genetic diseases [RCV002384251] Chr19:13365356 [GRCh38]
Chr19:13476170 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2025C>T (p.Asp675=) single nucleotide variant Episodic ataxia type 2 [RCV000529663]|not specified [RCV000606960] Chr19:13303846 [GRCh38]
Chr19:13414660 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2887A>C (p.Arg963=) single nucleotide variant Episodic ataxia type 2 [RCV000533947] Chr19:13298746 [GRCh38]
Chr19:13409560 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=) single nucleotide variant Episodic ataxia type 2 [RCV001087917]|not provided [RCV000733903] Chr19:13212432 [GRCh38]
Chr19:13323246 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.5400+3G>A single nucleotide variant Episodic ataxia type 2 [RCV000534920] Chr19:13231707 [GRCh38]
Chr19:13342521 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2481G>A (p.Pro827=) single nucleotide variant not provided [RCV000733428] Chr19:13299152 [GRCh38]
Chr19:13409966 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1212C>G (p.Leu404=) single nucleotide variant Episodic ataxia type 2 [RCV000538086]|not provided [RCV001788288] Chr19:13332912 [GRCh38]
Chr19:13443726 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.409G>A (p.Glu137Lys) single nucleotide variant not provided [RCV000413159] Chr19:13453006 [GRCh38]
Chr19:13563820 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1198+1G>A single nucleotide variant Episodic ataxia type 2 [RCV001850999]|not provided [RCV000413224] Chr19:13334377 [GRCh38]
Chr19:13445191 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.2789G>C (p.Arg930Pro) single nucleotide variant not provided [RCV001760541] Chr19:13298844 [GRCh38]
Chr19:13409658 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2606G>A (p.Arg869Gln) single nucleotide variant Episodic ataxia type 2 [RCV001042970]|not provided [RCV000412802] Chr19:13299027 [GRCh38]
Chr19:13409841 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6657delinsCCACCAC (p.His2218_His2219dup) indel CACNA1A-related disorder [RCV003985324]|not specified [RCV000413015] Chr19:13208879 [GRCh38]
Chr19:13319693 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5529-1216C>T single nucleotide variant not specified [RCV000413017] Chr19:13228743 [GRCh38]
Chr19:13339557 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4383G>A (p.Trp1461Ter) single nucleotide variant not provided [RCV000413385] Chr19:13259569 [GRCh38]
Chr19:13370383 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2968GAGGGC[1] (p.990EG[1]) microsatellite Episodic ataxia type 2 [RCV000540267]|not provided [RCV001775874] Chr19:13298648..13298659 [GRCh38]
Chr19:13409462..13409473 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3553+3G>T single nucleotide variant not specified [RCV000413246] Chr19:13286500 [GRCh38]
Chr19:13397314 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.55G>A (p.Ala19Thr) single nucleotide variant Episodic ataxia type 2 [RCV001350900]|not provided [RCV001726154] Chr19:13506170 [GRCh38]
Chr19:13616984 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6262G>A (p.Gly2088Ser) single nucleotide variant Episodic ataxia type 2 [RCV000525351] Chr19:13212144 [GRCh38]
Chr19:13322958 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3683C>T (p.Thr1228Met) single nucleotide variant not provided [RCV000658822]|not specified [RCV000413498] Chr19:13285077 [GRCh38]
Chr19:13395891 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn) single nucleotide variant Episodic ataxia type 2 [RCV001216305]|Inborn genetic diseases [RCV002318368]|not provided [RCV000996784]|not specified [RCV000413582] Chr19:13235015 [GRCh38]
Chr19:13345829 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln) single nucleotide variant Episodic ataxia type 2 [RCV000791501]|Inborn genetic diseases [RCV002524653]|Migraine, familial hemiplegic, 1 [RCV002275037]|not provided [RCV000727526]|not specified [RCV000413632] Chr19:13212736 [GRCh38]
Chr19:13323550 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2857G>A (p.Gly953Arg) single nucleotide variant Episodic ataxia type 2 [RCV000702148]|not provided [RCV003482254]|not specified [RCV000413966] Chr19:13298776 [GRCh38]
Chr19:13409590 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3532dup (p.Leu1178fs) duplication Episodic ataxia type 2 [RCV002523927]|not provided [RCV000414394] Chr19:13286523..13286524 [GRCh38]
Chr19:13397337..13397338 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2393A>T (p.Asp798Val) single nucleotide variant Amyotrophic lateral sclerosis [RCV000449585] Chr19:13299240 [GRCh38]
Chr19:13410054 [GRCh37]
Chr19:19p13.13		 uncertain significance
GRCh37/hg19 19p13.2(chr19:13180583-13319148)x3 copy number gain See cases [RCV000449427] Chr19:13180583..13319148 [GRCh37]
Chr19:19p13.2		 likely pathogenic
GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1 copy number loss See cases [RCV000449161] Chr19:12204632..13497073 [GRCh37]
Chr19:19p13.2		 pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
NM_001127222.2(CACNA1A):c.5112C>T (p.Ile1704=) single nucleotide variant Episodic ataxia type 2 [RCV001459538]|not specified [RCV000417474] Chr19:13235230 [GRCh38]
Chr19:13346044 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=) single nucleotide variant Episodic ataxia type 2 [RCV000697189]|not provided [RCV000710954] Chr19:13283267 [GRCh38]
Chr19:13394081 [GRCh37]
Chr19:19p13.13		 benign|likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3692+20A>G single nucleotide variant Episodic ataxia type 2 [RCV002521707]|not specified [RCV000420612] Chr19:13285048 [GRCh38]
Chr19:13395862 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) single nucleotide variant Episodic ataxia type 2 [RCV000795075]|Inborn genetic diseases [RCV002311506]|Tip-toe gait [RCV003319199]|not provided [RCV000658823]|not specified [RCV000420690] Chr19:13317306 [GRCh38]
Chr19:13428120 [GRCh37]
Chr19:19p13.13		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_001127222.2(CACNA1A):c.6526+11C>G single nucleotide variant Episodic ataxia type 2 [RCV002059693]|not provided [RCV003736767]|not specified [RCV000423588] Chr19:13209301 [GRCh38]
Chr19:13320115 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5930G>A (p.Arg1977His) single nucleotide variant Episodic ataxia type 2 [RCV001252985]|Episodic ataxia type 2 [RCV001861531]|not provided [RCV000427192] Chr19:13214243 [GRCh38]
Chr19:13325057 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4836T>G (p.Cys1612Trp) single nucleotide variant Episodic ataxia type 2 [RCV000689627]|Inborn genetic diseases [RCV002525522]|not provided [RCV000427258] Chr19:13253021 [GRCh38]
Chr19:13363835 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4591-4G>A single nucleotide variant CACNA1A-related disorder [RCV003985341]|Episodic ataxia type 2 [RCV000653350]|not provided [RCV001721285] Chr19:13255263 [GRCh38]
Chr19:13366077 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3989+11T>C single nucleotide variant Episodic ataxia type 2 [RCV002059830]|Migraine, familial hemiplegic, 1 [RCV001199260]|not specified [RCV000431097] Chr19:13275839 [GRCh38]
Chr19:13386653 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001328543]|Episodic ataxia type 2 [RCV002522374]|not provided [RCV000444921] Chr19:13299012 [GRCh38]
Chr19:13409826 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3633A>C (p.Glu1211Asp) single nucleotide variant not provided [RCV000522748] Chr19:13285127 [GRCh38]
Chr19:13395941 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1083-11T>C single nucleotide variant Episodic ataxia type 2 [RCV002522471]|not provided [RCV000417525] Chr19:13334504 [GRCh38]
Chr19:13445318 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=) single nucleotide variant CACNA1A-related disorder [RCV003985337]|Episodic ataxia type 2 [RCV000886375]|not provided [RCV001697816]|not specified [RCV000420836] Chr19:13257530 [GRCh38]
Chr19:13368344 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.1356C>T (p.Phe452=) single nucleotide variant CACNA1A-related disorder [RCV003985353]|Episodic ataxia type 2 [RCV001423905]|not provided [RCV000710929] Chr19:13317311 [GRCh38]
Chr19:13428125 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) single nucleotide variant CACNA1A-related disorder [RCV003985339]|Developmental and epileptic encephalopathy, 42 [RCV001253187]|Episodic ataxia type 2 [RCV000559097]|Episodic ataxia type 2 [RCV003224277]|Inborn genetic diseases [RCV002318451]|not provided [RCV000996789] Chr19:13286829 [GRCh38]
Chr19:13397643 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5649C>G (p.Pro1883=) single nucleotide variant Episodic ataxia type 2 [RCV000945339]|Inborn genetic diseases [RCV002318470]|not provided [RCV001712279] Chr19:13224749 [GRCh38]
Chr19:13335563 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu) single nucleotide variant CACNA1A-related disorder [RCV003985335]|Episodic ataxia type 2 [RCV000653356]|Inborn genetic diseases [RCV002339021]|not provided [RCV001712239]|not specified [RCV000424000] Chr19:13286599 [GRCh38]
Chr19:13397413 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.539+9C>T single nucleotide variant Episodic ataxia type 2 [RCV001214068]|not provided [RCV001662384] Chr19:13452867 [GRCh38]
Chr19:13563681 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=) single nucleotide variant Episodic ataxia type 2 [RCV001084768]|Inborn genetic diseases [RCV002450997]|not provided [RCV000585328] Chr19:13286672 [GRCh38]
Chr19:13397486 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.3803C>T (p.Pro1268Leu) single nucleotide variant Episodic ataxia type 2 [RCV003766337]|not provided [RCV000441511] Chr19:13283286 [GRCh38]
Chr19:13394100 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1889T>C (p.Leu630Ser) single nucleotide variant not provided [RCV000441524] Chr19:13308144 [GRCh38]
Chr19:13418958 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6126G>A (p.Thr2042=) single nucleotide variant CACNA1A-related disorder [RCV003985334]|Episodic ataxia type 2 [RCV001080158]|Inborn genetic diseases [RCV002311480]|not provided [RCV000710971]|not specified [RCV000441566] Chr19:13212447 [GRCh38]
Chr19:13323261 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.1230C>T (p.Asp410=) single nucleotide variant Episodic ataxia type 2 [RCV002521634]|not specified [RCV000420968] Chr19:13332894 [GRCh38]
Chr19:13443708 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2844C>G (p.Arg948=) single nucleotide variant Episodic ataxia type 2 [RCV000653363]|Inborn genetic diseases [RCV002436301]|not provided [RCV001720263] Chr19:13298789 [GRCh38]
Chr19:13409603 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.1987-16C>A single nucleotide variant Episodic ataxia type 2 [RCV002522564]|not specified [RCV000427796] Chr19:13303900 [GRCh38]
Chr19:13414714 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5508C>T (p.Ala1836=) single nucleotide variant Episodic ataxia type 2 [RCV001405937]|not provided [RCV000991678]|not specified [RCV000431519] Chr19:13230102 [GRCh38]
Chr19:13340916 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.5268T>C (p.Ala1756=) single nucleotide variant Episodic ataxia type 2 [RCV001478327]|not provided [RCV000710964] Chr19:13231842 [GRCh38]
Chr19:13342656 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.5394G>A (p.Ser1798=) single nucleotide variant Episodic ataxia type 2 [RCV000653375]|not provided [RCV001721408]|not specified [RCV000434667] Chr19:13231716 [GRCh38]
Chr19:13342530 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6339+11C>T single nucleotide variant Episodic ataxia type 2 [RCV002058918]|not specified [RCV000441860] Chr19:13210606 [GRCh38]
Chr19:13321420 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2960G>C (p.Arg987Pro) single nucleotide variant Episodic ataxia type 2 [RCV001058158]|not provided [RCV000418250]|not specified [RCV003993961] Chr19:13298673 [GRCh38]
Chr19:13409487 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6769G>A (p.Ala2257Thr) single nucleotide variant Episodic ataxia type 2 [RCV002522456]|not provided [RCV003144262]|not specified [RCV000427955] Chr19:13208767 [GRCh38]
Chr19:13319581 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1781+18C>A single nucleotide variant Episodic ataxia type 2 [RCV002062521]|not specified [RCV000427978] Chr19:13308398 [GRCh38]
Chr19:13419212 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3823-3C>T single nucleotide variant Inborn genetic diseases [RCV002521678]|not specified [RCV000431715] Chr19:13277131 [GRCh38]
Chr19:13387945 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6584G>A (p.Arg2195Gln) single nucleotide variant Episodic ataxia type 2 [RCV001086705]|Inborn genetic diseases [RCV002365535]|not provided [RCV000435013] Chr19:13208952 [GRCh38]
Chr19:13319766 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.689G>T (p.Gly230Val) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV000679939] Chr19:13365412 [GRCh38]
Chr19:13476226 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2521G>T (p.Ala841Ser) single nucleotide variant Episodic ataxia type 2 [RCV001365329]|not provided [RCV000762258] Chr19:13299112 [GRCh38]
Chr19:13409926 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6160G>A (p.Asp2054Asn) single nucleotide variant Episodic ataxia type 2 [RCV001299494]|Inborn genetic diseases [RCV002356582]|not provided [RCV000418343] Chr19:13212413 [GRCh38]
Chr19:13323227 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5840-14G>A single nucleotide variant Episodic ataxia type 2 [RCV002062544]|not specified [RCV000418452] Chr19:13214347 [GRCh38]
Chr19:13325161 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.3413A>G (p.Lys1138Arg) single nucleotide variant Episodic ataxia type 2 [RCV002522621]|not provided [RCV000424575] Chr19:13286643 [GRCh38]
Chr19:13397457 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2617G>C (p.Gly873Arg) single nucleotide variant not provided [RCV000428096] Chr19:13299016 [GRCh38]
Chr19:13409830 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1669-17C>T single nucleotide variant Episodic ataxia type 2 [RCV002059907]|not specified [RCV000431878] Chr19:13308545 [GRCh38]
Chr19:13419359 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5488G>A (p.Glu1830Lys) single nucleotide variant not provided [RCV000438670] Chr19:13230122 [GRCh38]
Chr19:13340936 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6069C>T (p.Gly2023=) single nucleotide variant not specified [RCV000442254] Chr19:13212504 [GRCh38]
Chr19:13323318 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4867-8C>T single nucleotide variant Episodic ataxia type 2 [RCV001446375]|not specified [RCV000418522] Chr19:13245273 [GRCh38]
Chr19:13356087 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2435G>A (p.Arg812Gln) single nucleotide variant Episodic ataxia type 2 [RCV000821566]|not provided [RCV000418568] Chr19:13299198 [GRCh38]
Chr19:13410012 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg) single nucleotide variant Spinocerebellar ataxia type 6 [RCV001333788]|not provided [RCV000418581] Chr19:13365421 [GRCh38]
Chr19:13476235 [GRCh37]
Chr19:19p13.13		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2045G>T (p.Gly682Val) single nucleotide variant not provided [RCV000424741] Chr19:13303826 [GRCh38]
Chr19:13414640 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3117G>T (p.Val1039=) single nucleotide variant Episodic ataxia type 2 [RCV000951715]|Inborn genetic diseases [RCV002323621]|not provided [RCV001697782] Chr19:13286939 [GRCh38]
Chr19:13397753 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.6630C>G (p.His2210Gln) single nucleotide variant Episodic ataxia type 2 [RCV001861596]|not provided [RCV000424906] Chr19:13208906 [GRCh38]
Chr19:13319720 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5840-17C>T single nucleotide variant Episodic ataxia type 2 [RCV002059700]|not specified [RCV000424909] Chr19:13214350 [GRCh38]
Chr19:13325164 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5940+18C>G single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001336212]|Episodic ataxia type 2 [RCV002059624]|not specified [RCV000428422] Chr19:13214215 [GRCh38]
Chr19:13325029 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3609G>A (p.Glu1203=) single nucleotide variant CACNA1A-related disorder [RCV003985343]|Episodic ataxia type 2 [RCV001522588]|Inborn genetic diseases [RCV002451014]|not provided [RCV001704366] Chr19:13285151 [GRCh38]
Chr19:13395965 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.3489C>T (p.Pro1163=) single nucleotide variant Episodic ataxia type 2 [RCV000917276]|not provided [RCV001704513] Chr19:13286567 [GRCh38]
Chr19:13397381 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.7002C>T (p.Ala2334=) single nucleotide variant not specified [RCV000442562] Chr19:13207832 [GRCh38]
Chr19:13318646 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1500G>A (p.Thr500=) single nucleotide variant Episodic ataxia type 2 [RCV000653369]|Inborn genetic diseases [RCV002393062]|not provided [RCV001696840]|not specified [RCV000421520] Chr19:13317167 [GRCh38]
Chr19:13427981 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.3989+13G>T single nucleotide variant Episodic ataxia type 2 [RCV002058913]|not specified [RCV000421556] Chr19:13275837 [GRCh38]
Chr19:13386651 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6067G>A (p.Gly2023Ser) single nucleotide variant Episodic ataxia type 2 [RCV000653329]|Inborn genetic diseases [RCV002521817]|not provided [RCV000421580] Chr19:13212506 [GRCh38]
Chr19:13323320 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2655A>G (p.Gly885=) single nucleotide variant Episodic ataxia type 2 [RCV000935244]|not specified [RCV000424939] Chr19:13298978 [GRCh38]
Chr19:13409792 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=) single nucleotide variant Episodic ataxia type 2 [RCV001458103]|not provided [RCV000996779]|not specified [RCV000424948] Chr19:13212666 [GRCh38]
Chr19:13323480 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2046C>T (p.Gly682=) single nucleotide variant Episodic ataxia type 2 [RCV001060214]|Inborn genetic diseases [RCV002318486]|not provided [RCV000710935] Chr19:13303825 [GRCh38]
Chr19:13414639 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.458T>C (p.Ile153Thr) single nucleotide variant Episodic ataxia type 2 [RCV002521831]|not provided [RCV000425081] Chr19:13452957 [GRCh38]
Chr19:13563771 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4755+12A>C single nucleotide variant not specified [RCV000432028] Chr19:13255083 [GRCh38]
Chr19:13365897 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4388+12G>A single nucleotide variant Episodic ataxia type 2 [RCV002062656]|not specified [RCV000432090] Chr19:13259552 [GRCh38]
Chr19:13370366 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2172+16G>A single nucleotide variant Episodic ataxia type 2 [RCV002059702]|not specified [RCV000439032] Chr19:13303530 [GRCh38]
Chr19:13414344 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4710G>T (p.Thr1570=) single nucleotide variant CACNA1A-related disorder [RCV003985348]|Episodic ataxia type 2 [RCV001472417]|not specified [RCV000439134] Chr19:13255140 [GRCh38]
Chr19:13365954 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3727C>T (p.Arg1243Cys) single nucleotide variant not provided [RCV000442811] Chr19:13283362 [GRCh38]
Chr19:13394176 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3261C>T (p.His1087=) single nucleotide variant Episodic ataxia type 2 [RCV003766256]|not specified [RCV000442826] Chr19:13286795 [GRCh38]
Chr19:13397609 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5732-8C>T single nucleotide variant Episodic ataxia type 2 [RCV001494906]|not provided [RCV001703773] Chr19:13214616 [GRCh38]
Chr19:13325430 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=) single nucleotide variant Episodic ataxia type 2 [RCV000653366]|Inborn genetic diseases [RCV002318474]|not provided [RCV001537834]|not specified [RCV000419104] Chr19:13212141 [GRCh38]
Chr19:13322955 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.3529C>A (p.Pro1177Thr) single nucleotide variant Episodic ataxia type 2 [RCV002525395]|not provided [RCV000421765] Chr19:13286527 [GRCh38]
Chr19:13397341 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5757C>T (p.Asp1919=) single nucleotide variant Episodic ataxia type 2 [RCV000950587]|Inborn genetic diseases [RCV002348245]|not provided [RCV001704546] Chr19:13214583 [GRCh38]
Chr19:13325397 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.5731+20G>A single nucleotide variant Episodic ataxia type 2 [RCV002059887]|not specified [RCV000428851] Chr19:13224647 [GRCh38]
Chr19:13335461 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.539+20C>T single nucleotide variant Episodic ataxia type 2 [RCV002065055]|not specified [RCV000428853] Chr19:13452856 [GRCh38]
Chr19:13563670 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.117C>T (p.Gly39=) single nucleotide variant Episodic ataxia type 2 [RCV001851057]|not specified [RCV000428936] Chr19:13506108 [GRCh38]
Chr19:13616922 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2400C>T (p.Asp800=) single nucleotide variant Episodic ataxia type 2 [RCV002063504]|not specified [RCV000432124] Chr19:13299233 [GRCh38]
Chr19:13410047 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2022C>T (p.Tyr674=) single nucleotide variant Episodic ataxia type 2 [RCV003766463]|not specified [RCV000432225] Chr19:13303849 [GRCh38]
Chr19:13414663 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3883-15T>C single nucleotide variant Episodic ataxia type 2 [RCV002059913]|not specified [RCV000432227] Chr19:13275971 [GRCh38]
Chr19:13386785 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.5400+15A>C single nucleotide variant Episodic ataxia type 2 [RCV002059783]|not provided [RCV001704421] Chr19:13231695 [GRCh38]
Chr19:13342509 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.4479C>T (p.Tyr1493=) single nucleotide variant not specified [RCV000435624] Chr19:13257461 [GRCh38]
Chr19:13368275 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) single nucleotide variant CACNA1A-related disorder [RCV003985345]|Episodic ataxia type 2 [RCV001089018]|Inborn genetic diseases [RCV002451016]|not provided [RCV000727896] Chr19:13286525 [GRCh38]
Chr19:13397339 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.5940+15G>A single nucleotide variant Episodic ataxia type 2 [RCV002059916]|not specified [RCV000439313] Chr19:13214218 [GRCh38]
Chr19:13325032 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) single nucleotide variant Episodic ataxia type 2 [RCV000990165]|Episodic ataxia type 2 [RCV001083556]|Inborn genetic diseases [RCV002318412]|not provided [RCV000653359]|not specified [RCV000439336] Chr19:13214276 [GRCh38]
Chr19:13325090 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.1191A>G (p.Ser397=) single nucleotide variant Episodic ataxia type 2 [RCV001861576]|Inborn genetic diseases [RCV002348208]|not provided [RCV001712272] Chr19:13334385 [GRCh38]
Chr19:13445199 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4388+19A>G single nucleotide variant not specified [RCV000442951] Chr19:13259545 [GRCh38]
Chr19:13370359 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1305C>T (p.Pro435=) single nucleotide variant Episodic ataxia type 2 [RCV000945367]|not provided [RCV001704436] Chr19:13330284 [GRCh38]
Chr19:13441098 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del) deletion CACNA1A-related disorder [RCV003985329]|Episodic ataxia type 2 [RCV002521511]|Inborn genetic diseases [RCV002314129]|not provided [RCV000423807] Chr19:13208878..13208880 [GRCh38]
Chr19:13319692..13319694 [GRCh37]
Chr19:19p13.13		 benign|likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3656C>T (p.Pro1219Leu) single nucleotide variant Episodic ataxia type 2 [RCV001865406]|not provided [RCV000419305] Chr19:13285104 [GRCh38]
Chr19:13395918 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5421C>T (p.Ala1807=) single nucleotide variant Episodic ataxia type 2 [RCV001482367]|not provided [RCV003311817]|not specified [RCV000421955] Chr19:13230189 [GRCh38]
Chr19:13341003 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg) single nucleotide variant Episodic ataxia type 2 [RCV000764174]|Episodic ataxia type 2 [RCV002521655]|not provided [RCV000422038] Chr19:13208928 [GRCh38]
Chr19:13319742 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2757G>A (p.Glu919=) single nucleotide variant not specified [RCV000435945] Chr19:13298876 [GRCh38]
Chr19:13409690 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.903C>T (p.Phe301=) single nucleotide variant Episodic ataxia type 2 [RCV000966715]|not provided [RCV001721450] Chr19:13359681 [GRCh38]
Chr19:13470495 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6340-19G>A single nucleotide variant Episodic ataxia type 2 [RCV002059829]|not specified [RCV000419520] Chr19:13209517 [GRCh38]
Chr19:13320331 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=) single nucleotide variant Episodic ataxia type 2 [RCV001411308]|not provided [RCV000731092] Chr19:13209466 [GRCh38]
Chr19:13320280 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.-27A>G single nucleotide variant not specified [RCV000419535] Chr19:13506251 [GRCh38]
Chr19:13617065 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5521G>A (p.Ala1841Thr) single nucleotide variant Episodic ataxia type 2 [RCV001051286]|not provided [RCV000419634] Chr19:13230089 [GRCh38]
Chr19:13340903 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4662C>G (p.Phe1554Leu) single nucleotide variant Episodic ataxia type 2 [RCV001233140]|Inborn genetic diseases [RCV003362783]|not provided [RCV000419668] Chr19:13255188 [GRCh38]
Chr19:13366002 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2895G>C (p.Gly965=) single nucleotide variant Episodic ataxia type 2 [RCV003766293]|not provided [RCV001698148] Chr19:13298738 [GRCh38]
Chr19:13409552 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2754C>T (p.Gly918=) single nucleotide variant Episodic ataxia type 2 [RCV000691135]|not provided [RCV000432692] Chr19:13298879 [GRCh38]
Chr19:13409693 [GRCh37]
Chr19:19p13.13		 benign|uncertain significance
NM_001127222.2(CACNA1A):c.6770C>G (p.Ala2257Gly) single nucleotide variant not provided [RCV000439656] Chr19:13208766 [GRCh38]
Chr19:13319580 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6339+10G>C single nucleotide variant Episodic ataxia type 2 [RCV001082718]|not provided [RCV000951494]|not specified [RCV000439825] Chr19:13210607 [GRCh38]
Chr19:13321421 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.1105C>T (p.Arg369Trp) single nucleotide variant Episodic ataxia type 2 [RCV002522687]|Episodic ataxia type 2 [RCV003333068]|not provided [RCV000443485] Chr19:13334471 [GRCh38]
Chr19:13445285 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3990-2A>G single nucleotide variant Episodic ataxia type 2 [RCV001377005]|not provided [RCV000427802] Chr19:13262835 [GRCh38]
Chr19:13373649 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1290A>G (p.Thr430=) single nucleotide variant not specified [RCV000419733] Chr19:13330299 [GRCh38]
Chr19:13441113 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2853G>A (p.Ala951=) single nucleotide variant Episodic ataxia type 2 [RCV001312913]|not provided [RCV002292549]|not specified [RCV000422468] Chr19:13298780 [GRCh38]
Chr19:13409594 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.7365C>A (p.Pro2455=) single nucleotide variant not specified [RCV000425829] Chr19:13207469 [GRCh38]
Chr19:13318283 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6339+9C>T single nucleotide variant Episodic ataxia type 2 [RCV001504751]|not specified [RCV000432813] Chr19:13210608 [GRCh38]
Chr19:13321422 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1198+16C>A single nucleotide variant Episodic ataxia type 2 [RCV002059670]|not specified [RCV000436309] Chr19:13334362 [GRCh38]
Chr19:13445176 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.546G>A (p.Leu182=) single nucleotide variant Episodic ataxia type 2 [RCV000815238]|Inborn genetic diseases [RCV002348243]|Migraine, familial hemiplegic, 1 [RCV002264938]|not provided [RCV001696771] Chr19:13371773 [GRCh38]
Chr19:13482587 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance|not provided
NM_001127222.2(CACNA1A):c.1346-3C>T single nucleotide variant not provided [RCV001698246] Chr19:13317324 [GRCh38]
Chr19:13428138 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2867G>A (p.Arg956Gln) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003448308]|Episodic ataxia type 2 [RCV001246166]|Inborn genetic diseases [RCV002436320]|not provided [RCV000439889] Chr19:13298766 [GRCh38]
Chr19:13409580 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met) single nucleotide variant Episodic ataxia type 2 [RCV001068298]|not provided [RCV000440064]|not specified [RCV000791047] Chr19:13212694 [GRCh38]
Chr19:13323508 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp) single nucleotide variant Episodic ataxia type 2 [RCV000990164]|Episodic ataxia type 2 [RCV001219860]|Inborn genetic diseases [RCV003168640]|not provided [RCV000443580] Chr19:13208935 [GRCh38]
Chr19:13319749 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5940+12G>A single nucleotide variant Episodic ataxia type 2 [RCV002060006]|not specified [RCV000443585] Chr19:13214221 [GRCh38]
Chr19:13325035 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2826C>T (p.Ser942=) single nucleotide variant Episodic ataxia type 2 [RCV001084226]|Inborn genetic diseases [RCV002313086]|not provided [RCV000550057]|not specified [RCV000443697] Chr19:13298807 [GRCh38]
Chr19:13409621 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5840-16G>A single nucleotide variant not specified [RCV000443709] Chr19:13214349 [GRCh38]
Chr19:13325163 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.294-6C>T single nucleotide variant CACNA1A-related disorder [RCV003985338]|Episodic ataxia type 2 [RCV000884519]|not provided [RCV001697818] Chr19:13455218 [GRCh38]
Chr19:13566032 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) single nucleotide variant CACNA1A-related disorder [RCV003985336]|Episodic ataxia type 2 [RCV001088540]|Episodic ataxia type 2 [RCV003224276]|Inborn genetic diseases [RCV002318439]|not provided [RCV000726584]|not specified [RCV001706630] Chr19:13224748 [GRCh38]
Chr19:13335562 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2173-11G>A single nucleotide variant not provided [RCV001721410] Chr19:13300667 [GRCh38]
Chr19:13411481 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1698C>T (p.Ile566=) single nucleotide variant Episodic ataxia type 2 [RCV000553347]|Inborn genetic diseases [RCV002311504]|not provided [RCV002292551]|not specified [RCV000443849] Chr19:13308499 [GRCh38]
Chr19:13419313 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.4096T>A (p.Phe1366Ile) single nucleotide variant not provided [RCV000433673] Chr19:13261604 [GRCh38]
Chr19:13372418 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6217G>A (p.Asp2073Asn) single nucleotide variant Episodic ataxia type 2 [RCV001340110]|not provided [RCV000422871] Chr19:13212189 [GRCh38]
Chr19:13323003 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6190-3C>A single nucleotide variant Episodic ataxia type 2 [RCV001865355]|not provided [RCV001283515] Chr19:13212219 [GRCh38]
Chr19:13323033 [GRCh37]
Chr19:19p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.4926C>T (p.Thr1642=) single nucleotide variant CACNA1A-related disorder [RCV003985344]|Episodic ataxia type 2 [RCV000960809]|Inborn genetic diseases [RCV002339059]|not specified [RCV000440354] Chr19:13245206 [GRCh38]
Chr19:13356020 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.3166C>T (p.Arg1056Cys) single nucleotide variant Episodic ataxia type 2 [RCV000553097]|Inborn genetic diseases [RCV002318456]|not specified [RCV000440421] Chr19:13286890 [GRCh38]
Chr19:13397704 [GRCh37]
Chr19:19p13.13		 benign|uncertain significance
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg) single nucleotide variant Episodic ataxia type 2 [RCV000706830]|Inborn genetic diseases [RCV003168701]|not provided [RCV000440429] Chr19:13298590 [GRCh38]
Chr19:13409404 [GRCh37]
Chr19:19p13.13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.5067+20G>A single nucleotide variant Episodic ataxia type 2 [RCV002062546]|Episodic ataxia type 2 [RCV002481310]|not provided [RCV001720170] Chr19:13235594 [GRCh38]
Chr19:13346408 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.62C>T (p.Ala21Val) single nucleotide variant Episodic ataxia type 2 [RCV000542201]|Inborn genetic diseases [RCV002318449]|not specified [RCV000444099] Chr19:13506163 [GRCh38]
Chr19:13616977 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.632-18C>A single nucleotide variant not specified [RCV000444143] Chr19:13365487 [GRCh38]
Chr19:13476301 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=) single nucleotide variant Episodic ataxia type 2 [RCV001039593]|not provided [RCV000435231]|not specified [RCV003317206] Chr19:13308251 [GRCh38]
Chr19:13419065 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV000787277]|Episodic ataxia type 2 [RCV000763033]|Episodic ataxia type 2 [RCV001078138]|Episodic ataxia type 2 [RCV002227161]|Episodic ataxia type 2 [RCV003223404]|Episodic ataxia type 2 [RCV003333066]|Inborn genetic diseases [RCV000624902]|Spinocerebellar ataxia type 6 [RCV001251039]|not provided [RCV000435974] Chr19:13262780 [GRCh38]
Chr19:13373594 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|not provided
NM_001127222.2(CACNA1A):c.3162G>A (p.Leu1054=) single nucleotide variant not specified [RCV000420119] Chr19:13286894 [GRCh38]
Chr19:13397708 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3783C>T (p.Ala1261=) single nucleotide variant Episodic ataxia type 2 [RCV003766402]|not provided [RCV001721405] Chr19:13283306 [GRCh38]
Chr19:13394120 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3882+13T>C single nucleotide variant Episodic ataxia type 2 [RCV002059021]|not specified [RCV000423049] Chr19:13277056 [GRCh38]
Chr19:13387870 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.5400+18G>A single nucleotide variant Episodic ataxia type 2 [RCV002056673]|not provided [RCV001721477] Chr19:13231692 [GRCh38]
Chr19:13342506 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4591-9C>G single nucleotide variant Episodic ataxia type 2 [RCV000532831]|not provided [RCV001700178]|not specified [RCV000433533] Chr19:13255268 [GRCh38]
Chr19:13366082 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.-11C>T single nucleotide variant not specified [RCV000433561] Chr19:13506235 [GRCh38]
Chr19:13617049 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1782-20C>T single nucleotide variant Episodic ataxia type 2 [RCV001516096]|not provided [RCV001796045]|not specified [RCV000437105] Chr19:13308271 [GRCh38]
Chr19:13419085 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=) single nucleotide variant Episodic ataxia type 2 [RCV001079278]|Inborn genetic diseases [RCV002339018]|not provided [RCV000945995] Chr19:13253051 [GRCh38]
Chr19:13363865 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.297C>T (p.Pro99=) single nucleotide variant Episodic ataxia type 2 [RCV000653365]|Inborn genetic diseases [RCV002436300]|not provided [RCV001720261] Chr19:13455209 [GRCh38]
Chr19:13566023 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6662C>T (p.Pro2221Leu) single nucleotide variant Episodic ataxia type 2 [RCV001368839]|not provided [RCV001704385] Chr19:13208874 [GRCh38]
Chr19:13319688 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.526G>C (p.Val176Leu) single nucleotide variant Episodic ataxia type 2 [RCV000558866]|not provided [RCV000440690] Chr19:13452889 [GRCh38]
Chr19:13563703 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5528+16G>A single nucleotide variant Episodic ataxia type 2 [RCV002059888]|not specified [RCV000444225] Chr19:13230066 [GRCh38]
Chr19:13340880 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5415T>C (p.Phe1805=) single nucleotide variant not specified [RCV000444374] Chr19:13230195 [GRCh38]
Chr19:13341009 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1781+7C>A single nucleotide variant CACNA1A-related disorder [RCV003985347]|Episodic ataxia type 2 [RCV001079197]|not provided [RCV000913780]|not specified [RCV000444410] Chr19:13308409 [GRCh38]
Chr19:13419223 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del) microsatellite CACNA1A-related disorder [RCV003985328]|Episodic ataxia type 2 [RCV001080102]|Inborn genetic diseases [RCV002314124]|not provided [RCV000437029]|not specified [RCV000484910] Chr19:13208880..13208882 [GRCh38]
Chr19:13319694..13319696 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.2292G>C (p.Gln764His) single nucleotide variant not provided [RCV000423299] Chr19:13299341 [GRCh38]
Chr19:13410155 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.539+14G>A single nucleotide variant Episodic ataxia type 2 [RCV002522458]|not specified [RCV000423346] Chr19:13452862 [GRCh38]
Chr19:13563676 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3989+16A>G single nucleotide variant Episodic ataxia type 2 [RCV001516095]|Episodic ataxia type 2 [RCV002506028]|not specified [RCV000426909] Chr19:13275834 [GRCh38]
Chr19:13386648 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.4644G>A (p.Pro1548=) single nucleotide variant Episodic ataxia type 2 [RCV000653377]|Inborn genetic diseases [RCV002339049]|not provided [RCV001704281]|not specified [RCV000430529] Chr19:13255206 [GRCh38]
Chr19:13366020 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.2718G>A (p.Arg906=) single nucleotide variant Episodic ataxia type 2 [RCV001487201]|not provided [RCV001704307] Chr19:13298915 [GRCh38]
Chr19:13409729 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4626G>A (p.Pro1542=) single nucleotide variant Episodic ataxia type 2 [RCV002522373]|not specified [RCV000440877] Chr19:13255224 [GRCh38]
Chr19:13366038 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.539+17A>G single nucleotide variant Episodic ataxia type 2 [RCV002059853]|not specified [RCV000440977] Chr19:13452859 [GRCh38]
Chr19:13563673 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) single nucleotide variant Episodic ataxia type 2 [RCV001084096]|Inborn genetic diseases [RCV002313058]|not provided [RCV000547865]|not specified [RCV000444556] Chr19:13312723 [GRCh38]
Chr19:13423537 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) single nucleotide variant CACNA1A-related disorder [RCV003985352]|Episodic ataxia type 2 [RCV001080177]|Episodic ataxia type 2 [RCV001643142]|Inborn genetic diseases [RCV002446750]|not provided [RCV000710948] Chr19:13286791 [GRCh38]
Chr19:13397605 [GRCh37]
Chr19:19p13.13		 benign|likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5205C>T (p.His1735=) single nucleotide variant CACNA1A-related disorder [RCV003985349]|not specified [RCV000444651] Chr19:13234965 [GRCh38]
Chr19:13345779 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2310_2337dup (p.Glu780delinsGlnValArgValGlyAlaAlaAspGlnTer) duplication not provided [RCV000440018] Chr19:13299295..13299296 [GRCh38]
Chr19:13410109..13410110 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) single nucleotide variant CACNA1A-related disorder [RCV003985342]|Episodic ataxia type 2 [RCV000541910]|Episodic ataxia type 2 [RCV000764178]|Inborn genetic diseases [RCV002356583]|Muscle weakness [RCV000735340]|not provided [RCV000710970] Chr19:13212448 [GRCh38]
Chr19:13323262 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.784+10C>T single nucleotide variant Episodic ataxia type 2 [RCV000653378]|not specified [RCV000420541] Chr19:13365307 [GRCh38]
Chr19:13476121 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.6408C>T (p.Asp2136=) single nucleotide variant Episodic ataxia type 2 [RCV002059917]|not provided [RCV001698227] Chr19:13209430 [GRCh38]
Chr19:13320244 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6527-16C>T single nucleotide variant Episodic ataxia type 2 [RCV002064957]|Episodic ataxia type 2 [RCV002480295]|not specified [RCV000430727] Chr19:13209025 [GRCh38]
Chr19:13319839 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6527-19T>C single nucleotide variant Episodic ataxia type 2 [RCV002059748]|not provided [RCV001721323] Chr19:13209028 [GRCh38]
Chr19:13319842 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.3119C>T (p.Ser1040Leu) single nucleotide variant Episodic ataxia type 2 [RCV002522708]|not provided [RCV000434119] Chr19:13286937 [GRCh38]
Chr19:13397751 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2823G>A (p.Glu941=) single nucleotide variant Episodic ataxia type 2 [RCV000537566]|Inborn genetic diseases [RCV002318452]|not provided [RCV001720234]|not specified [RCV000437458] Chr19:13298810 [GRCh38]
Chr19:13409624 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=) single nucleotide variant CACNA1A-related disorder [RCV003985346]|Episodic ataxia type 2 [RCV001079749]|Inborn genetic diseases [RCV002318473]|not provided [RCV000487896] Chr19:13298678 [GRCh38]
Chr19:13409492 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.5468T>C (p.Leu1823Pro) single nucleotide variant not provided [RCV000487732] Chr19:13230142 [GRCh38]
Chr19:13340956 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6774C>T (p.His2258=) single nucleotide variant not specified [RCV000441203] Chr19:13208762 [GRCh38]
Chr19:13319576 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5134-20G>A single nucleotide variant Episodic ataxia type 2 [RCV002063396]|not specified [RCV000444774] Chr19:13235056 [GRCh38]
Chr19:13345870 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6731G>A (p.Arg2244His) single nucleotide variant Episodic ataxia type 2 [RCV001224501]|not provided [RCV000444802] Chr19:13208805 [GRCh38]
Chr19:13319619 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro) single nucleotide variant Cerebellar ataxia [RCV000416438]|Cerebellar ataxia [RCV000556499]|Episodic ataxia type 2 [RCV002227158] Chr19:13235666 [GRCh38]
Chr19:13346480 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.571_578delinsGAACT (p.Leu191_Thr193delinsGluLeu) indel not specified [RCV000483306] Chr19:13371741..13371748 [GRCh38]
Chr19:13482555..13482562 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3649A>G (p.Met1217Val) single nucleotide variant Episodic ataxia type 2 [RCV001070658]|not provided [RCV000483313] Chr19:13285111 [GRCh38]
Chr19:13395925 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.6587_6598del (p.Asp2196_Arg2199del) deletion Episodic ataxia type 2 [RCV001079731]|Inborn genetic diseases [RCV002367632]|not provided [RCV000483466] Chr19:13208938..13208949 [GRCh38]
Chr19:13319752..13319763 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro) single nucleotide variant Episodic ataxia type 2 [RCV000687506]|Inborn genetic diseases [RCV004023139]|not provided [RCV000479522] Chr19:13332899 [GRCh38]
Chr19:13443713 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3530C>G (p.Pro1177Arg) single nucleotide variant Episodic ataxia type 2 [RCV001205704]|Inborn genetic diseases [RCV002341143]|not provided [RCV000479702] Chr19:13286526 [GRCh38]
Chr19:13397340 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del) microsatellite Developmental and epileptic encephalopathy, 1 [RCV000791013]|Tip-toe gait [RCV001353376]|not provided [RCV000483584] Chr19:13208880..13208891 [GRCh38]
Chr19:13319694..13319705 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2729T>A (p.Leu910Gln) single nucleotide variant Episodic ataxia type 2 [RCV003766708]|not provided [RCV000483593] Chr19:13298904 [GRCh38]
Chr19:13409718 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His) single nucleotide variant Episodic ataxia type 2 [RCV002525898]|Inborn genetic diseases [RCV002318579]|not provided [RCV000761991] Chr19:13209374 [GRCh38]
Chr19:13320188 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del) deletion Episodic ataxia type 2 [RCV000527151]|not provided [RCV000996773]|not specified [RCV001814984] Chr19:13208878..13208889 [GRCh38]
Chr19:13319692..13319703 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001264726]|Episodic ataxia type 2 [RCV001643203]|Episodic ataxia type 2 [RCV001856860]|Episodic ataxia type 2 [RCV002227168]|Spinocerebellar ataxia type 6 [RCV001542801]|not provided [RCV000480159] Chr19:13245205 [GRCh38]
Chr19:13356019 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.6653_6658del (p.His2218_His2219del) deletion Inborn genetic diseases [RCV002367623]|not provided [RCV000726691]|not specified [RCV000480210] Chr19:13208878..13208883 [GRCh38]
Chr19:13319692..13319697 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.5C>T (p.Ala2Val) single nucleotide variant Episodic ataxia type 2 [RCV001362235]|not provided [RCV001704643] Chr19:13506220 [GRCh38]
Chr19:13617034 [GRCh37]
Chr19:19p13.13		 benign|likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6760G>C (p.Glu2254Gln) single nucleotide variant CACNA1A-related disorder [RCV003985360]|Episodic ataxia type 2 [RCV001049031]|Inborn genetic diseases [RCV002525881]|not provided [RCV000484344] Chr19:13208776 [GRCh38]
Chr19:13319590 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) deletion Bulbar palsy [RCV001004002]|CACNA1A-related disorder [RCV003985358]|Developmental and epileptic encephalopathy, 42 [RCV001799666]|Episodic ataxia type 2 [RCV001059907]|Episodic ataxia type 2 [RCV003114604]|Inborn genetic diseases [RCV004023135]|not provided [RCV000482772] Chr19:13303831..13303832 [GRCh38]
Chr19:13414645..13414646 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.3701G>A (p.Arg1234His) single nucleotide variant CACNA1A-related disorder [RCV003985366]|Episodic ataxia type 2 [RCV001429158]|Inborn genetic diseases [RCV002350069]|not provided [RCV001696815] Chr19:13283388 [GRCh38]
Chr19:13394202 [GRCh37]
Chr19:19p13.13		 benign|likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6694C>T (p.Arg2232Trp) single nucleotide variant Episodic ataxia type 2 [RCV001364178]|not provided [RCV000727072] Chr19:13208842 [GRCh38]
Chr19:13319656 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del) microsatellite CACNA1A-related disorder [RCV003985364]|Inborn genetic diseases [RCV002367644]|not provided [RCV000726802] Chr19:13208880..13208888 [GRCh38]
Chr19:13319694..13319702 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.6317G>T (p.Arg2106Leu) single nucleotide variant Episodic ataxia type 2 [RCV003114608]|not provided [RCV000480646] Chr19:13210639 [GRCh38]
Chr19:13321453 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5471G>A (p.Gly1824Asp) single nucleotide variant not provided [RCV000480684] Chr19:13230139 [GRCh38]
Chr19:13340953 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2812G>C (p.Gly938Arg) single nucleotide variant Episodic ataxia type 2 [RCV001337615]|not provided [RCV000710942] Chr19:13298821 [GRCh38]
Chr19:13409635 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6190-2A>C single nucleotide variant Episodic ataxia type 2 [RCV001379725]|not provided [RCV000483754] Chr19:13212218 [GRCh38]
Chr19:13323032 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) microsatellite CACNA1A-related disorder [RCV003985359]|Developmental and epileptic encephalopathy, 42 [RCV001336211]|Episodic ataxia type 2 [RCV001084910]|Inborn genetic diseases [RCV002318576]|not provided [RCV000710943] Chr19:13298647..13298648 [GRCh38]
Chr19:13409461..13409462 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.6235G>A (p.Glu2079Lys) single nucleotide variant Episodic ataxia type 2 [RCV001865468]|not provided [RCV000762254] Chr19:13212171 [GRCh38]
Chr19:13322985 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2258C>T (p.Ala753Val) single nucleotide variant Episodic ataxia type 2 [RCV001210428]|Inborn genetic diseases [RCV002446946]|not provided [RCV000485255] Chr19:13300571 [GRCh38]
Chr19:13411385 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2765G>T (p.Arg922Leu) single nucleotide variant Episodic ataxia type 2 [RCV001342665]|Inborn genetic diseases [RCV002436540]|not provided [RCV000481089] Chr19:13298868 [GRCh38]
Chr19:13409682 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4625C>T (p.Pro1542Leu) single nucleotide variant not provided [RCV000481188] Chr19:13255225 [GRCh38]
Chr19:13366039 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5517C>A (p.Asp1839Glu) single nucleotide variant not provided [RCV000481235] Chr19:13230093 [GRCh38]
Chr19:13340907 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5479C>G (p.His1827Asp) single nucleotide variant not provided [RCV000485351] Chr19:13230131 [GRCh38]
Chr19:13340945 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2056G>A (p.Gly686Ser) single nucleotide variant Episodic ataxia type 2 [RCV001851226]|not provided [RCV000485491] Chr19:13303815 [GRCh38]
Chr19:13414629 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4281G>T (p.Glu1427Asp) single nucleotide variant not provided [RCV000481344] Chr19:13259671 [GRCh38]
Chr19:13370485 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6650_6658del (p.His2217_His2219del) deletion CACNA1A-related disorder [RCV003985363]|Episodic ataxia type 2 [RCV000534340]|Inborn genetic diseases [RCV002313252]|not provided [RCV000481504] Chr19:13208878..13208886 [GRCh38]
Chr19:13319692..13319700 [GRCh37]
Chr19:19p13.13		 benign|likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5768G>A (p.Arg1923Gln) single nucleotide variant Episodic ataxia type 2 [RCV003766705]|not provided [RCV000485620] Chr19:13214572 [GRCh38]
Chr19:13325386 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) microsatellite Inborn genetic diseases [RCV002313246]|not provided [RCV000824719]|not specified [RCV000485876] Chr19:13208879..13208880 [GRCh38]
Chr19:13319693..13319694 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_001127222.2(CACNA1A):c.2844_2853del (p.Ala951fs) deletion Episodic ataxia type 2 [RCV001865490]|Episodic ataxia type 2 [RCV002287409]|not provided [RCV000485010] Chr19:13298780..13298789 [GRCh38]
Chr19:13409594..13409603 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2018T>C (p.Met673Thr) single nucleotide variant not provided [RCV000481659] Chr19:13303853 [GRCh38]
Chr19:13414667 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001253380]|Episodic ataxia type 2 [RCV000703860]|Episodic ataxia type 2 [RCV002489171]|Inborn genetic diseases [RCV002318582]|not provided [RCV000481834] Chr19:13299229 [GRCh38]
Chr19:13410043 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001839005]|Episodic ataxia type 2 [RCV000697164]|Inborn genetic diseases [RCV003258820]|not provided [RCV000481875] Chr19:13506196 [GRCh38]
Chr19:13617010 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5755G>A (p.Asp1919Asn) single nucleotide variant Episodic ataxia type 2 [RCV001215083]|not provided [RCV000481878] Chr19:13214585 [GRCh38]
Chr19:13325399 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2982_2987dup (p.Gly995_Pro996dup) duplication Episodic ataxia type 2 [RCV001851177]|not provided [RCV000485914] Chr19:13298645..13298646 [GRCh38]
Chr19:13409459..13409460 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1169A>G (p.Asn390Ser) single nucleotide variant Episodic ataxia type 2 [RCV001318502]|not provided [RCV000485980] Chr19:13334407 [GRCh38]
Chr19:13445221 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4520C>A (p.Ala1507Asp) single nucleotide variant not provided [RCV000485284] Chr19:13257420 [GRCh38]
Chr19:13368234 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu) single nucleotide variant Episodic ataxia type 2 [RCV001232171]|not provided [RCV000481930]|not specified [RCV003323560] Chr19:13208856 [GRCh38]
Chr19:13319670 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4469A>G (p.Tyr1490Cys) single nucleotide variant Episodic ataxia type 2 [RCV003766709]|not provided [RCV000486278] Chr19:13257471 [GRCh38]
Chr19:13368285 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV000853325]|Episodic ataxia type 2 [RCV001851179]|Episodic ataxia type 2 [RCV002227166]|not provided [RCV000485872] Chr19:13231717 [GRCh38]
Chr19:13342531 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) single nucleotide variant CACNA1A-related disorder [RCV003985361]|Episodic ataxia type 2 [RCV000764176]|Episodic ataxia type 2 [RCV001487619]|Inborn genetic diseases [RCV002367642]|not provided [RCV000482338] Chr19:13209372 [GRCh38]
Chr19:13320186 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.6704A>G (p.His2235Arg) single nucleotide variant Episodic ataxia type 2 [RCV002526663]|not provided [RCV000486729] Chr19:13208832 [GRCh38]
Chr19:13319646 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1984C>T (p.Gln662Ter) single nucleotide variant Spinocerebellar ataxia type 6 [RCV003228937]|not provided [RCV000478900] Chr19:13307784 [GRCh38]
Chr19:13418598 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.4079C>A (p.Pro1360Gln) single nucleotide variant not provided [RCV000479097] Chr19:13262744 [GRCh38]
Chr19:13373558 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003152605]|Episodic ataxia type 2 [RCV000679938]|Episodic ataxia type 2 [RCV002227167]|not provided [RCV000486354] Chr19:13262768 [GRCh38]
Chr19:13373582 [GRCh37]
Chr19:19p13.13		 pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.5131C>A (p.Gln1711Lys) single nucleotide variant not provided [RCV000486435] Chr19:13235211 [GRCh38]
Chr19:13346025 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002272255]|Episodic ataxia type 2 [RCV000545131]|Inborn genetic diseases [RCV002318586]|Undetermined early-onset epileptic encephalopathy [RCV003993982]|not provided [RCV000486833] Chr19:13209009 [GRCh38]
Chr19:13319823 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp) single nucleotide variant Episodic ataxia type 2 [RCV003766687]|not provided [RCV000486810] Chr19:13262781 [GRCh38]
Chr19:13373595 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys) single nucleotide variant Episodic ataxia type 2 [RCV002470870]|Episodic ataxia type 2 [RCV002526562]|not provided [RCV000487043] Chr19:13312743 [GRCh38]
Chr19:13423557 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu) single nucleotide variant Episodic ataxia type 2 [RCV001431438]|not provided [RCV000710087] Chr19:13298766 [GRCh38]
Chr19:13409580 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.6775C>T (p.Arg2259Trp) single nucleotide variant CACNA1A-related disorder [RCV003985367]|Episodic ataxia type 2 [RCV001344534]|Inborn genetic diseases [RCV002367646]|not provided [RCV000478520]|not specified [RCV003479138] Chr19:13208761 [GRCh38]
Chr19:13319575 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6679C>T (p.Arg2227Cys) single nucleotide variant Episodic ataxia type 2 [RCV001241367]|not provided [RCV000478540] Chr19:13208857 [GRCh38]
Chr19:13319671 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.833C>T (p.Ala278Val) single nucleotide variant not provided [RCV000482705] Chr19:13359751 [GRCh38]
Chr19:13470565 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) single nucleotide variant CACNA1A-related disorder [RCV003985362]|Episodic ataxia type 2 [RCV000764175]|Episodic ataxia type 2 [RCV001087818]|Inborn genetic diseases [RCV002311805]|not provided [RCV000732133] Chr19:13209333 [GRCh38]
Chr19:13320147 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2896G>A (p.Glu966Lys) single nucleotide variant Episodic ataxia type 2 [RCV001055772]|not provided [RCV000482791] Chr19:13298737 [GRCh38]
Chr19:13409551 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3079C>G (p.Arg1027Gly) single nucleotide variant Episodic ataxia type 2 [RCV001856840]|not provided [RCV000482976] Chr19:13298554 [GRCh38]
Chr19:13409368 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6114del (p.Met2038fs) deletion not provided [RCV000479729] Chr19:13212459 [GRCh38]
Chr19:13323273 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.5200G>A (p.Glu1734Lys) single nucleotide variant Episodic ataxia type 2 [RCV000820001]|not provided [RCV000478801] Chr19:13234970 [GRCh38]
Chr19:13345784 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.173_175del (p.Thr58del) deletion not provided [RCV000483088] Chr19:13506050..13506052 [GRCh38]
Chr19:13616864..13616866 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2968GAGGGC[2] (p.990EG[2]) microsatellite CACNA1A-related disorder [RCV003985365]|Episodic ataxia type 2 [RCV000552759]|Inborn genetic diseases [RCV002438177]|not provided [RCV001722404]|not specified [RCV000483156] Chr19:13298648..13298653 [GRCh38]
Chr19:13409462..13409467 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1084G>T (p.Glu362Ter) single nucleotide variant not provided [RCV000480414] Chr19:13334492 [GRCh38]
Chr19:13445306 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1039G>A (p.Gly347Ser) single nucleotide variant Episodic ataxia type 2 [RCV001042082]|Tip-toe gait [RCV002051861]|not specified [RCV000501045] Chr19:13335849 [GRCh38]
Chr19:13446663 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.1479_1480del (p.Ser494fs) deletion Episodic ataxia type 2 [RCV000501177] Chr19:13317187..13317188 [GRCh38]
Chr19:13428001..13428002 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp) single nucleotide variant Episodic ataxia type 2 [RCV001301380]|Inborn genetic diseases [RCV002524161]|not provided [RCV003456403]|not specified [RCV000504059] Chr19:13334435 [GRCh38]
Chr19:13445249 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His) single nucleotide variant Episodic ataxia type 2 [RCV000653344]|Inborn genetic diseases [RCV002367677]|not provided [RCV001707709] Chr19:13208877 [GRCh38]
Chr19:13319691 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3179C>G (p.Pro1060Arg) single nucleotide variant Episodic ataxia type 2 [RCV001857080]|not specified [RCV000502090] Chr19:13286877 [GRCh38]
Chr19:13397691 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2729T>G (p.Leu910Arg) single nucleotide variant Episodic ataxia type 2 [RCV001046824]|not provided [RCV000497473] Chr19:13298904 [GRCh38]
Chr19:13409718 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1060C>T (p.Leu354Phe) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV000499887]|not provided [RCV000522915] Chr19:13335828 [GRCh38]
Chr19:13446642 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.1348T>C (p.Ser450Pro) single nucleotide variant Vascular dementia [RCV001263176]|not specified [RCV000502281] Chr19:13317319 [GRCh38]
Chr19:13428133 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr) single nucleotide variant Episodic ataxia type 2 [RCV000764179]|Episodic ataxia type 2 [RCV001851379]|Inborn genetic diseases [RCV002318605]|not provided [RCV000497966] Chr19:13285126 [GRCh38]
Chr19:13395940 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs) deletion CACNA1A-related disorder [RCV003985368]|Episodic ataxia type 2 [RCV000500314]|not provided [RCV001009007] Chr19:13286645 [GRCh38]
Chr19:13397459 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5839+1G>T single nucleotide variant not provided [RCV000498318] Chr19:13214500 [GRCh38]
Chr19:13325314 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2899G>T (p.Glu967Ter) single nucleotide variant not provided [RCV000498551] Chr19:13298734 [GRCh38]
Chr19:13409548 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3025G>A (p.Ala1009Thr) single nucleotide variant not provided [RCV000498561] Chr19:13298608 [GRCh38]
Chr19:13409422 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4501_4503del (p.Phe1501del) deletion not provided [RCV000493619] Chr19:13257437..13257439 [GRCh38]
Chr19:13368251..13368253 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His) single nucleotide variant Episodic ataxia type 2 [RCV000692582]|Inborn genetic diseases [RCV002318598]|not provided [RCV000493640] Chr19:13209371 [GRCh38]
Chr19:13320185 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.3103dup (p.Ser1035fs) duplication Inborn genetic diseases [RCV000622578]|not provided [RCV000493758] Chr19:13286952..13286953 [GRCh38]
Chr19:13397766..13397767 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr) single nucleotide variant Episodic ataxia type 2 [RCV000707375]|Inborn genetic diseases [RCV002323856]|not provided [RCV000494033] Chr19:13286830 [GRCh38]
Chr19:13397644 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1 copy number loss See cases [RCV000511445] Chr19:13592592..14717528 [GRCh37]
Chr19:19p13.2-13.12		 likely pathogenic
NM_001127222.2(CACNA1A):c.5663A>G (p.Asn1888Ser) single nucleotide variant not provided [RCV000494210] Chr19:13224735 [GRCh38]
Chr19:13335549 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) single nucleotide variant Episodic ataxia type 2 [RCV000764180]|Episodic ataxia type 2 [RCV001212290]|Inborn genetic diseases [RCV004023314]|not provided [RCV000494232] Chr19:13286646 [GRCh38]
Chr19:13397460 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2062G>T (p.Val688Leu) single nucleotide variant Episodic ataxia type 2 [RCV003766777]|not provided [RCV000494379] Chr19:13303809 [GRCh38]
Chr19:13414623 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3049G>C (p.Ala1017Pro) single nucleotide variant not provided [RCV000492806] Chr19:13298584 [GRCh38]
Chr19:13409398 [GRCh37]
Chr19:19p13.13		 uncertain significance
GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 copy number loss See cases [RCV000511130] Chr19:12574343..14726197 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
NM_001127222.2(CACNA1A):c.3129C>A (p.Asn1043Lys) single nucleotide variant Episodic ataxia type 2 [RCV001319146]|not specified [RCV000516924] Chr19:13286927 [GRCh38]
Chr19:13397741 [GRCh37]
Chr19:19p13.13		 uncertain significance
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 copy number gain See cases [RCV000511013] Chr19:11608072..14543046 [GRCh37]
Chr19:19p13.2-13.12		 uncertain significance
NM_001127222.2(CACNA1A):c.1083-4C>G single nucleotide variant Episodic ataxia type 2 [RCV000947923]|Inborn genetic diseases [RCV002315899]|not provided [RCV001712621]|not specified [RCV000606770] Chr19:13334497 [GRCh38]
Chr19:13445311 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.3814C>T (p.Arg1272Trp) single nucleotide variant Episodic ataxia type 2 [RCV000525851] Chr19:13283275 [GRCh38]
Chr19:13394089 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs) deletion Episodic ataxia type 2 [RCV000526339]|Episodic ataxia type 2 [RCV002464259]|not provided [RCV000757052] Chr19:13298704..13298729 [GRCh38]
Chr19:13409518..13409543 [GRCh37]
Chr19:19p13.13		 pathogenic|not provided
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002289769]|Episodic ataxia type 2 [RCV000553225] Chr19:13365413 [GRCh38]
Chr19:13476227 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.1701G>A (p.Trp567Ter) single nucleotide variant Episodic ataxia type 2 [RCV000528779] Chr19:13308496 [GRCh38]
Chr19:13419310 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3063C>A (p.Asp1021Glu) single nucleotide variant Episodic ataxia type 2 [RCV000529094]|not provided [RCV003327421] Chr19:13298570 [GRCh38]
Chr19:13409384 [GRCh37]
Chr19:19p13.13		 benign|uncertain significance
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=) single nucleotide variant Episodic ataxia type 2 [RCV001439451]|not provided [RCV000710977] Chr19:13365402 [GRCh38]
Chr19:13476216 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2256C>G (p.Ser752=) single nucleotide variant Episodic ataxia type 2 [RCV000531163] Chr19:13300573 [GRCh38]
Chr19:13411387 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6361A>T (p.Met2121Leu) single nucleotide variant Episodic ataxia type 2 [RCV000531261]|Inborn genetic diseases [RCV003372758] Chr19:13209477 [GRCh38]
Chr19:13320291 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5731+14A>G single nucleotide variant Episodic ataxia type 2 [RCV002063988]|not specified [RCV000604353] Chr19:13224653 [GRCh38]
Chr19:13335467 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6379G>A (p.Val2127Met) single nucleotide variant Episodic ataxia type 2 [RCV000532320]|Inborn genetic diseases [RCV002315037] Chr19:13209459 [GRCh38]
Chr19:13320273 [GRCh37]
Chr19:19p13.13		 benign|uncertain significance
NM_001127222.2(CACNA1A):c.4720A>G (p.Met1574Val) single nucleotide variant Episodic ataxia type 2 [RCV000533076] Chr19:13255130 [GRCh38]
Chr19:13365944 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5731+19C>T single nucleotide variant Episodic ataxia type 2 [RCV001860303]|not specified [RCV000599741] Chr19:13224648 [GRCh38]
Chr19:13335462 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=) single nucleotide variant Episodic ataxia type 2 [RCV001505365]|Inborn genetic diseases [RCV002341460]|not provided [RCV000534550] Chr19:13231851 [GRCh38]
Chr19:13342665 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.1989C>T (p.Ile663=) single nucleotide variant Episodic ataxia type 2 [RCV003767673]|Inborn genetic diseases [RCV002317364]|not specified [RCV000605488] Chr19:13303882 [GRCh38]
Chr19:13414696 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3891C>T (p.Asp1297=) single nucleotide variant not provided [RCV000585001] Chr19:13275948 [GRCh38]
Chr19:13386762 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2907G>A (p.Pro969=) single nucleotide variant Episodic ataxia type 2 [RCV000538768]|Inborn genetic diseases [RCV002438487]|not provided [RCV001722522] Chr19:13298726 [GRCh38]
Chr19:13409540 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.539+10G>A single nucleotide variant CACNA1A-related disorder [RCV003985388]|Episodic ataxia type 2 [RCV001459507]|not specified [RCV000600532] Chr19:13452866 [GRCh38]
Chr19:13563680 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.539+8G>A single nucleotide variant Episodic ataxia type 2 [RCV003767469]|not specified [RCV000606115] Chr19:13452868 [GRCh38]
Chr19:13563682 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5891A>G (p.Tyr1964Cys) single nucleotide variant Inborn genetic diseases [RCV000623359]|not provided [RCV002508240] Chr19:13214282 [GRCh38]
Chr19:13325096 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6775C>A (p.Arg2259=) single nucleotide variant Episodic ataxia type 2 [RCV000541455]|not provided [RCV001200620]|not specified [RCV000610065] Chr19:13208761 [GRCh38]
Chr19:13319575 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2785_2786insT (p.His929fs) insertion Inborn genetic diseases [RCV000623714] Chr19:13298847..13298848 [GRCh38]
Chr19:13409661..13409662 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3451G>A (p.Gly1151Ser) single nucleotide variant Episodic ataxia type 2 [RCV003779881]|Inborn genetic diseases [RCV003264540] Chr19:13286605 [GRCh38]
Chr19:13397419 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2806C>T (p.Gln936Ter) single nucleotide variant Inborn genetic diseases [RCV000624432] Chr19:13298827 [GRCh38]
Chr19:13409641 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5941-2A>G single nucleotide variant Inborn genetic diseases [RCV000624820] Chr19:13212742 [GRCh38]
Chr19:13323556 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=) single nucleotide variant Episodic ataxia type 2 [RCV001400635]|not provided [RCV000726754] Chr19:13230159 [GRCh38]
Chr19:13340973 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2799G>A (p.Val933=) single nucleotide variant Episodic ataxia type 2 [RCV001467615]|not specified [RCV000607132] Chr19:13298834 [GRCh38]
Chr19:13409648 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4951-14C>T single nucleotide variant Episodic ataxia type 2 [RCV002064205]|not specified [RCV000601961] Chr19:13235744 [GRCh38]
Chr19:13346558 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2356T>C (p.Leu786=) single nucleotide variant not specified [RCV000602326] Chr19:13299277 [GRCh38]
Chr19:13410091 [GRCh37]
Chr19:19p13.13		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001127222.2(CACNA1A):c.5419G>T (p.Ala1807Ser) single nucleotide variant Global developmental delay [RCV000626755] Chr19:13230191 [GRCh38]
Chr19:13341005 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3843C>T (p.Tyr1281=) single nucleotide variant Episodic ataxia type 2 [RCV000538316]|not provided [RCV001697416] Chr19:13277108 [GRCh38]
Chr19:13387922 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3684G>A (p.Thr1228=) single nucleotide variant CACNA1A-related disorder [RCV003985391]|Episodic ataxia type 2 [RCV000653353]|not provided [RCV001718959]|not specified [RCV000609644] Chr19:13285076 [GRCh38]
Chr19:13395890 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.5670C>T (p.Val1890=) single nucleotide variant not specified [RCV000609671] Chr19:13224728 [GRCh38]
Chr19:13335542 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.990C>G (p.Ala330=) single nucleotide variant Episodic ataxia type 2 [RCV001474719]|not specified [RCV000601496] Chr19:13335898 [GRCh38]
Chr19:13446712 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6339+12G>A single nucleotide variant Episodic ataxia type 2 [RCV002063182]|not specified [RCV000615296] Chr19:13210605 [GRCh38]
Chr19:13321419 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3510C>A (p.Ile1170=) single nucleotide variant not specified [RCV000615883] Chr19:13286546 [GRCh38]
Chr19:13397360 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4251-4G>A single nucleotide variant CACNA1A-related disorder [RCV003985387]|Episodic ataxia type 2 [RCV001494792]|not provided [RCV001722611] Chr19:13259705 [GRCh38]
Chr19:13370519 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4347G>C (p.Leu1449=) single nucleotide variant not specified [RCV000615493] Chr19:13259605 [GRCh38]
Chr19:13370419 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3067G>A (p.Glu1023Lys) single nucleotide variant Episodic ataxia type 2 [RCV000653323] Chr19:13298566 [GRCh38]
Chr19:13409380 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6295G>A (p.Glu2099Lys) single nucleotide variant Episodic ataxia type 2 [RCV000653322] Chr19:13212111 [GRCh38]
Chr19:13322925 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2317_2319delinsAC (p.Val773fs) indel Episodic ataxia type 2 [RCV000653343] Chr19:13299314..13299316 [GRCh38]
Chr19:13410128..13410130 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2778G>A (p.Gly926=) single nucleotide variant Episodic ataxia type 2 [RCV000653346] Chr19:13298855 [GRCh38]
Chr19:13409669 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1905C>T (p.Phe635=) single nucleotide variant Episodic ataxia type 2 [RCV001079049]|not provided [RCV000710933] Chr19:13308128 [GRCh38]
Chr19:13418942 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.5256C>T (p.Ala1752=) single nucleotide variant Episodic ataxia type 2 [RCV000653351]|not provided [RCV003424256] Chr19:13231854 [GRCh38]
Chr19:13342668 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4290G>A (p.Ala1430=) single nucleotide variant Episodic ataxia type 2 [RCV000653352]|Inborn genetic diseases [RCV002331265] Chr19:13259662 [GRCh38]
Chr19:13370476 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5250-8G>C single nucleotide variant Episodic ataxia type 2 [RCV001401942] Chr19:13231868 [GRCh38]
Chr19:13342682 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5528+7A>G single nucleotide variant Episodic ataxia type 2 [RCV000653361] Chr19:13230075 [GRCh38]
Chr19:13340889 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4398G>A (p.Lys1466=) single nucleotide variant Episodic ataxia type 2 [RCV000653364] Chr19:13257542 [GRCh38]
Chr19:13368356 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2739C>G (p.Pro913=) single nucleotide variant Episodic ataxia type 2 [RCV000653370]|not provided [RCV001592831] Chr19:13298894 [GRCh38]
Chr19:13409708 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4263C>T (p.Leu1421=) single nucleotide variant Episodic ataxia type 2 [RCV000653371] Chr19:13259689 [GRCh38]
Chr19:13370503 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3882+10G>C single nucleotide variant Episodic ataxia type 2 [RCV000653372] Chr19:13277059 [GRCh38]
Chr19:13387873 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3787G>A (p.Glu1263Lys) single nucleotide variant Episodic ataxia type 2 [RCV000653321] Chr19:13283302 [GRCh38]
Chr19:13394116 [GRCh37]
Chr19:19p13.13		 pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.6527-7G>A single nucleotide variant Episodic ataxia type 2 [RCV000653320] Chr19:13209016 [GRCh38]
Chr19:13319830 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3464A>T (p.Asn1155Ile) single nucleotide variant Episodic ataxia type 2 [RCV000653319] Chr19:13286592 [GRCh38]
Chr19:13397406 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3693C>G (p.Pro1231=) single nucleotide variant Episodic ataxia type 2 [RCV000653318] Chr19:13283396 [GRCh38]
Chr19:13394210 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.486C>T (p.Gly162=) single nucleotide variant Episodic ataxia type 2 [RCV000653341] Chr19:13452929 [GRCh38]
Chr19:13563743 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2374G>T (p.Ala792Ser) single nucleotide variant Episodic ataxia type 2 [RCV000653340] Chr19:13299259 [GRCh38]
Chr19:13410073 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His) single nucleotide variant Episodic ataxia type 2 [RCV000653337]|Episodic ataxia type 2 [RCV002507126]|Inborn genetic diseases [RCV002317901] Chr19:13255180 [GRCh38]
Chr19:13365994 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1444A>G (p.Met482Val) single nucleotide variant Episodic ataxia type 2 [RCV000653336]|not provided [RCV001584510] Chr19:13317223 [GRCh38]
Chr19:13428037 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1327G>A (p.Ala443Thr) single nucleotide variant Episodic ataxia type 2 [RCV000653335]|not provided [RCV001288482] Chr19:13330262 [GRCh38]
Chr19:13441076 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1910G>T (p.Gly637Val) single nucleotide variant Episodic ataxia type 2 [RCV000653334] Chr19:13308123 [GRCh38]
Chr19:13418937 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2755G>T (p.Glu919Ter) single nucleotide variant Episodic ataxia type 2 [RCV000653333] Chr19:13298878 [GRCh38]
Chr19:13409692 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2191G>T (p.Glu731Ter) single nucleotide variant Episodic ataxia type 2 [RCV000653332] Chr19:13300638 [GRCh38]
Chr19:13411452 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6710_6719del (p.Arg2237fs) deletion Episodic ataxia type 2 [RCV000653330] Chr19:13208817..13208826 [GRCh38]
Chr19:13319631..13319640 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.346G>A (p.Ala116Thr) single nucleotide variant Episodic ataxia type 2 [RCV000653328] Chr19:13455160 [GRCh38]
Chr19:13565974 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.488C>T (p.Ser163Phe) single nucleotide variant Episodic ataxia type 2 [RCV000653327] Chr19:13452927 [GRCh38]
Chr19:13563741 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6449G>A (p.Arg2150Gln) single nucleotide variant Episodic ataxia type 2 [RCV000653326]|Inborn genetic diseases [RCV002532006]|not provided [RCV003411551] Chr19:13209389 [GRCh38]
Chr19:13320203 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1545C>T (p.Ser515=) single nucleotide variant Episodic ataxia type 2 [RCV000653376]|Inborn genetic diseases [RCV002317902]|not provided [RCV001550160] Chr19:13317122 [GRCh38]
Chr19:13427936 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6561C>T (p.Ser2187=) single nucleotide variant Episodic ataxia type 2 [RCV001518496]|not provided [RCV001531291] Chr19:13208975 [GRCh38]
Chr19:13319789 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.3774C>T (p.Ile1258=) single nucleotide variant Episodic ataxia type 2 [RCV001421243]|not provided [RCV001697934] Chr19:13283315 [GRCh38]
Chr19:13394129 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5401-10G>T single nucleotide variant Episodic ataxia type 2 [RCV003767622]|not specified [RCV000616170] Chr19:13230219 [GRCh38]
Chr19:13341033 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5031C>A (p.Ile1677=) single nucleotide variant not specified [RCV000607397] Chr19:13235650 [GRCh38]
Chr19:13346464 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6468C>T (p.Arg2156=) single nucleotide variant Episodic ataxia type 2 [RCV001433594]|not provided [RCV000710975] Chr19:13209370 [GRCh38]
Chr19:13320184 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.6613C>T (p.Arg2205Trp) single nucleotide variant Episodic ataxia type 2 [RCV000653324]|Inborn genetic diseases [RCV002368016]|not provided [RCV000594367] Chr19:13208923 [GRCh38]
Chr19:13319737 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1722A>G (p.Thr574=) single nucleotide variant not specified [RCV000613419] Chr19:13308475 [GRCh38]
Chr19:13419289 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2172+9G>A single nucleotide variant Episodic ataxia type 2 [RCV001495779]|not provided [RCV000937588]|not specified [RCV000613532] Chr19:13303537 [GRCh38]
Chr19:13414351 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1668+7G>A single nucleotide variant CACNA1A-related disorder [RCV003985386]|Episodic ataxia type 2 [RCV001521258]|not specified [RCV000616743] Chr19:13312662 [GRCh38]
Chr19:13423476 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.504C>G (p.Gly168=) single nucleotide variant not provided [RCV000598136] Chr19:13452911 [GRCh38]
Chr19:13563725 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter) single nucleotide variant Episodic ataxia type 2 [RCV002468594]|Episodic ataxia type 2 [RCV002529808]|Spinocerebellar ataxia type 6 [RCV001542799]|not provided [RCV000627239] Chr19:13235694 [GRCh38]
Chr19:13346508 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6781-6G>A single nucleotide variant Episodic ataxia type 2 [RCV002063162]|not provided [RCV001697537] Chr19:13208059 [GRCh38]
Chr19:13318873 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5732-20T>C single nucleotide variant Episodic ataxia type 2 [RCV002062869]|not specified [RCV000616915] Chr19:13214628 [GRCh38]
Chr19:13325442 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.294-6C>A single nucleotide variant Episodic ataxia type 2 [RCV000527816] Chr19:13455218 [GRCh38]
Chr19:13566032 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.549G>T (p.Ala183=) single nucleotide variant Episodic ataxia type 2 [RCV000527959] Chr19:13371770 [GRCh38]
Chr19:13482584 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.992C>G (p.Ser331Ter) single nucleotide variant not provided [RCV000627382] Chr19:13335896 [GRCh38]
Chr19:13446710 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1199-17G>C single nucleotide variant Episodic ataxia type 2 [RCV002066563]|Episodic ataxia type 2 [RCV002498961]|not specified [RCV000608366] Chr19:13332942 [GRCh38]
Chr19:13443756 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.6234C>T (p.Ser2078=) single nucleotide variant Episodic ataxia type 2 [RCV000819435]|not specified [RCV000611064] Chr19:13212172 [GRCh38]
Chr19:13322986 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6573G>A (p.Pro2191=) single nucleotide variant Episodic ataxia type 2 [RCV001458704]|not provided [RCV000937587]|not specified [RCV000611201] Chr19:13208963 [GRCh38]
Chr19:13319777 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1990C>T (p.Leu664=) single nucleotide variant CACNA1A-related disorder [RCV003985392]|Episodic ataxia type 2 [RCV001406893]|not specified [RCV000611342] Chr19:13303881 [GRCh38]
Chr19:13414695 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5839+15C>T single nucleotide variant Episodic ataxia type 2 [RCV002064115]|not specified [RCV000608707] Chr19:13214486 [GRCh38]
Chr19:13325300 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2787C>T (p.His929=) single nucleotide variant Episodic ataxia type 2 [RCV000653368]|not specified [RCV000608851] Chr19:13298846 [GRCh38]
Chr19:13409660 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5400+7C>T single nucleotide variant Episodic ataxia type 2 [RCV001483476]|not specified [RCV000611571] Chr19:13231703 [GRCh38]
Chr19:13342517 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.-34G>T single nucleotide variant not specified [RCV000614365] Chr19:13506258 [GRCh38]
Chr19:13617072 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=) single nucleotide variant CACNA1A-related disorder [RCV003985385]|Episodic ataxia type 2 [RCV001082686]|Inborn genetic diseases [RCV002311954]|not provided [RCV000727523] Chr19:13365468 [GRCh38]
Chr19:13476282 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.3288G>A (p.Lys1096=) single nucleotide variant Episodic ataxia type 2 [RCV001453007]|not specified [RCV000608938] Chr19:13286768 [GRCh38]
Chr19:13397582 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6630CCA[11] (p.His2218_His2219dup) microsatellite Inborn genetic diseases [RCV002368036]|not specified [RCV000611591] Chr19:13208879..13208880 [GRCh38]
Chr19:13319693..13319694 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4866+13T>C single nucleotide variant Episodic ataxia type 2 [RCV002063050]|not specified [RCV000614423] Chr19:13252978 [GRCh38]
Chr19:13363792 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.399+3G>A single nucleotide variant Episodic ataxia type 2 [RCV002528531]|not specified [RCV000603579] Chr19:13455104 [GRCh38]
Chr19:13565918 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2397G>A (p.Pro799=) single nucleotide variant Episodic ataxia type 2 [RCV003767674]|Inborn genetic diseases [RCV002317365]|not specified [RCV000609224] Chr19:13299236 [GRCh38]
Chr19:13410050 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2619C>T (p.Gly873=) single nucleotide variant Episodic ataxia type 2 [RCV001344520]|not specified [RCV000609280] Chr19:13299014 [GRCh38]
Chr19:13409828 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5529-1187T>C single nucleotide variant Episodic ataxia type 2 [RCV001434929] Chr19:13228714 [GRCh38]
Chr19:13339528 [GRCh37]
Chr19:19p13.13		 likely benign
GRCh37/hg19 19p13.2(chr19:13561015-13604751)x1 copy number loss See cases [RCV000512249] Chr19:13561015..13604751 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001127222.2(CACNA1A):c.5731+14del deletion Episodic ataxia type 2 [RCV002064120]|not specified [RCV000601827] Chr19:13224653 [GRCh38]
Chr19:13335467 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.864G>A (p.Gln288=) single nucleotide variant CACNA1A-related disorder [RCV003985389]|Episodic ataxia type 2 [RCV001401894]|not provided [RCV000996798] Chr19:13359720 [GRCh38]
Chr19:13470534 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=) single nucleotide variant Episodic ataxia type 2 [RCV001411719]|Inborn genetic diseases [RCV002358731]|not provided [RCV000727910] Chr19:13214305 [GRCh38]
Chr19:13325119 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=) single nucleotide variant CACNA1A-related disorder [RCV003985394]|Episodic ataxia type 2 [RCV001079207]|Inborn genetic diseases [RCV002385935]|not provided [RCV000895596]|not specified [RCV000600114] Chr19:13317299 [GRCh38]
Chr19:13428113 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.3178C>T (p.Pro1060Ser) single nucleotide variant Episodic ataxia type 2 [RCV000546691] Chr19:13286878 [GRCh38]
Chr19:13397692 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4090-3C>G single nucleotide variant not provided [RCV000512680] Chr19:13261613 [GRCh38]
Chr19:13372427 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6305G>A (p.Arg2102Lys) single nucleotide variant Episodic ataxia type 2 [RCV001854007]|not provided [RCV000596261] Chr19:13210651 [GRCh38]
Chr19:13321465 [GRCh37]
Chr19:19p13.13		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.1809C>T (p.Val603=) single nucleotide variant Episodic ataxia type 2 [RCV001428306]|Inborn genetic diseases [RCV002413396]|not provided [RCV000513103] Chr19:13308224 [GRCh38]
Chr19:13419038 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4228A>G (p.Lys1410Glu) single nucleotide variant Episodic ataxia type 2 [RCV001241908]|not provided [RCV000597497] Chr19:13261472 [GRCh38]
Chr19:13372286 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1782-6C>T single nucleotide variant CACNA1A-related disorder [RCV003985384]|Episodic ataxia type 2 [RCV001079776]|not provided [RCV000710932] Chr19:13308257 [GRCh38]
Chr19:13419071 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2487G>A (p.Glu829=) single nucleotide variant Episodic ataxia type 2 [RCV000920334]|Inborn genetic diseases [RCV002431785]|not specified [RCV000605965] Chr19:13299146 [GRCh38]
Chr19:13409960 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1257T>C (p.Ala419=) single nucleotide variant not specified [RCV000600760] Chr19:13330332 [GRCh38]
Chr19:13441146 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1593C>T (p.Ser531=) single nucleotide variant CACNA1A-related disorder [RCV003985390]|Episodic ataxia type 2 [RCV000921507]|Inborn genetic diseases [RCV002317355]|not provided [RCV000606291] Chr19:13312744 [GRCh38]
Chr19:13423558 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1912C>T (p.Gln638Ter) single nucleotide variant Inborn genetic diseases [RCV000623238] Chr19:13308121 [GRCh38]
Chr19:13418935 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6368del (p.Arg2123fs) deletion Inborn genetic diseases [RCV000623810] Chr19:13209470 [GRCh38]
Chr19:13320284 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg) single nucleotide variant Episodic ataxia type 2 [RCV000686079]|not provided [RCV000710984] Chr19:13359695 [GRCh38]
Chr19:13470509 [GRCh37]
Chr19:19p13.13		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr) single nucleotide variant Episodic ataxia type 2 [RCV000707156]|Inborn genetic diseases [RCV002317926]|not provided [RCV000710938]|not specified [RCV003987676] Chr19:13299132 [GRCh38]
Chr19:13409946 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2539C>T (p.Gln847Ter) single nucleotide variant Episodic ataxia type 2 [RCV001382612]|not provided [RCV000657995] Chr19:13299094 [GRCh38]
Chr19:13409908 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.7306G>A (p.Ala2436Thr) single nucleotide variant not provided [RCV000658817] Chr19:13207528 [GRCh38]
Chr19:13318342 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6637C>T (p.His2213Tyr) single nucleotide variant not provided [RCV000658818] Chr19:13208899 [GRCh38]
Chr19:13319713 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6452_6463del (p.His2151_Arg2154del) deletion Episodic ataxia type 2 [RCV002536333]|not provided [RCV000658819] Chr19:13209375..13209386 [GRCh38]
Chr19:13320189..13320200 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1171G>A single nucleotide variant not provided [RCV000658821] Chr19:13228698 [GRCh38]
Chr19:13339512 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3926G>A (p.Arg1309His) single nucleotide variant Episodic ataxia type 2 [RCV000698362] Chr19:13275913 [GRCh38]
Chr19:13386727 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6595C>T (p.Arg2199Trp) single nucleotide variant Episodic ataxia type 2 [RCV002534283]|not provided [RCV000658308] Chr19:13208941 [GRCh38]
Chr19:13319755 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2788C>T (p.Arg930Trp) single nucleotide variant Episodic ataxia type 2 [RCV000821861]|Inborn genetic diseases [RCV004026033]|not provided [RCV000658469] Chr19:13298845 [GRCh38]
Chr19:13409659 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6781-12A>G single nucleotide variant not provided [RCV000658111] Chr19:13208065 [GRCh38]
Chr19:13318879 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3692+1G>T single nucleotide variant Episodic ataxia type 2 [RCV000681661] Chr19:13285067 [GRCh38]
Chr19:13395881 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.357G>A (p.Gln119=) single nucleotide variant Episodic ataxia type 2 [RCV002533008]|Inborn genetic diseases [RCV002316152] Chr19:13455149 [GRCh38]
Chr19:13565963 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5088G>A (p.Leu1696=) single nucleotide variant Episodic ataxia type 2 [RCV002534547]|Inborn genetic diseases [RCV002314464] Chr19:13235254 [GRCh38]
Chr19:13346068 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6665C>T (p.Pro2222Leu) single nucleotide variant Episodic ataxia type 2 [RCV001343264]|Inborn genetic diseases [RCV002316118] Chr19:13208871 [GRCh38]
Chr19:13319685 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) duplication Developmental and epileptic encephalopathy, 1 [RCV000714692]|Episodic ataxia type 2 [RCV000714691]|Episodic ataxia type 2 [RCV001351528]|Spinocerebellar ataxia type 6 [RCV000714690] Chr19:13286740..13286741 [GRCh38]
Chr19:13397554..13397555 [GRCh37]
Chr19:19p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.3331G>T (p.Ala1111Ser) single nucleotide variant Episodic ataxia type 2 [RCV000697968]|Inborn genetic diseases [RCV002325402] Chr19:13286725 [GRCh38]
Chr19:13397539 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3247G>A (p.Gly1083Ser) single nucleotide variant Episodic ataxia type 2 [RCV001862067]|Inborn genetic diseases [RCV002316705] Chr19:13286809 [GRCh38]
Chr19:13397623 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6937CAG[(21_30)] microsatellite Episodic ataxia type 2 [RCV000030866]|Spinocerebellar ataxia type 6 [RCV000009015] Chr19:13207895..13207897 [GRCh38]
Chr19:13318709..13318711 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3784G>A (p.Ala1262Thr) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001787104]|Episodic ataxia type 2 [RCV000686576]|not provided [RCV001662750] Chr19:13283305 [GRCh38]
Chr19:13394119 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6689A>G (p.Gln2230Arg) single nucleotide variant Episodic ataxia type 2 [RCV001868292]|Hereditary episodic ataxia [RCV000678470] Chr19:13208847 [GRCh38]
Chr19:13319661 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del deletion Cerebellar ataxia [RCV000678985]|Developmental and epileptic encephalopathy, 42 [RCV002509507]|Episodic ataxia type 2 [RCV000703765]|not provided [RCV003232071] Chr19:13228767..13228768 [GRCh38]
Chr19:13339581..13339582 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.2707C>T (p.His903Tyr) single nucleotide variant not provided [RCV000710940] Chr19:13298926 [GRCh38]
Chr19:13409740 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4125C>T (p.Asn1375=) single nucleotide variant Episodic ataxia type 2 [RCV001410393]|not provided [RCV000710959] Chr19:13261575 [GRCh38]
Chr19:13372389 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4250G>A (p.Arg1417Gln) single nucleotide variant not provided [RCV000710960] Chr19:13261450 [GRCh38]
Chr19:13372264 [GRCh37]
Chr19:19p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.439G>A (p.Glu147Lys) single nucleotide variant Episodic ataxia type 2 [RCV001390633]|not provided [RCV000710961] Chr19:13452976 [GRCh38]
Chr19:13563790 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4693C>T (p.Pro1565Ser) single nucleotide variant Episodic ataxia type 2 [RCV003117513]|not provided [RCV000710962] Chr19:13255157 [GRCh38]
Chr19:13365971 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) single nucleotide variant Spastic ataxia [RCV000855537]|not provided [RCV000710963] Chr19:13235684 [GRCh38]
Chr19:13346498 [GRCh37]
Chr19:19p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.6044G>A (p.Gly2015Glu) single nucleotide variant Episodic ataxia type 2 [RCV001868324]|Inborn genetic diseases [RCV002352230]|not provided [RCV000710967] Chr19:13212637 [GRCh38]
Chr19:13323451 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001333786]|Episodic ataxia type 2 [RCV001458329]|not provided [RCV000710969] Chr19:13212496 [GRCh38]
Chr19:13323310 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.6715C>T (p.Arg2239Trp) single nucleotide variant Episodic ataxia type 2 [RCV000687354]|Inborn genetic diseases [RCV002360723]|not provided [RCV000996772] Chr19:13208821 [GRCh38]
Chr19:13319635 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2133C>A (p.Ile711=) single nucleotide variant Episodic ataxia type 2 [RCV000701921] Chr19:13303585 [GRCh38]
Chr19:13414399 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4950+1G>T single nucleotide variant Episodic ataxia type 2 [RCV000687889] Chr19:13245181 [GRCh38]
Chr19:13355995 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3017G>C (p.Arg1006Pro) single nucleotide variant Episodic ataxia type 2 [RCV000688501]|not provided [RCV001592872] Chr19:13298616 [GRCh38]
Chr19:13409430 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6456C>A (p.His2152Gln) single nucleotide variant Episodic ataxia type 2 [RCV000698418] Chr19:13209382 [GRCh38]
Chr19:13320196 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4877G>A (p.Arg1626His) single nucleotide variant Episodic ataxia type 2 [RCV000687070]|not provided [RCV003420216] Chr19:13245255 [GRCh38]
Chr19:13356069 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1210G>A single nucleotide variant Episodic ataxia type 2 [RCV000692878]|not provided [RCV002464291] Chr19:13228737 [GRCh38]
Chr19:13339551 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.104del (p.Gly35fs) deletion not provided [RCV000710927] Chr19:13506121 [GRCh38]
Chr19:13616935 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1182= (p.Glu394=) single nucleotide variant not provided [RCV000710928] Chr19:13334394 [GRCh38]
Chr19:13445208 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001836870]|Episodic ataxia type 2 [RCV001304179]|not provided [RCV000710939] Chr19:13298941 [GRCh38]
Chr19:13409755 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2811G>T (p.Gly937=) single nucleotide variant Episodic ataxia type 2 [RCV003768097]|not provided [RCV000710941] Chr19:13298822 [GRCh38]
Chr19:13409636 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3109G>A (p.Val1037Ile) single nucleotide variant not provided [RCV000710946] Chr19:13286947 [GRCh38]
Chr19:13397761 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser) single nucleotide variant Episodic ataxia type 2 [RCV000796725]|Inborn genetic diseases [RCV002325440]|not provided [RCV000710947] Chr19:13286881 [GRCh38]
Chr19:13397695 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter) single nucleotide variant Episodic ataxia type 2 [RCV000815552]|Episodic ataxia type 2 [RCV002289992]|See cases [RCV003128416]|not provided [RCV000710958] Chr19:13262790 [GRCh38]
Chr19:13373604 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5530G>A (p.Gly1844Ser) single nucleotide variant not provided [RCV000710965] Chr19:13227526 [GRCh38]
Chr19:13338340 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5740G>A (p.Asp1914Asn) single nucleotide variant Episodic ataxia type 2 [RCV000821878]|not provided [RCV000710966] Chr19:13214600 [GRCh38]
Chr19:13325414 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.7274G>A (p.Gly2425Asp) single nucleotide variant CACNA1A-related disorder [RCV003985416]|not provided [RCV000710980] Chr19:13207560 [GRCh38]
Chr19:13318374 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.1370T>A (p.Ile457Asn) single nucleotide variant Episodic ataxia type 2 [RCV000706968] Chr19:13317297 [GRCh38]
Chr19:13428111 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1469G>A (p.Trp490Ter) single nucleotide variant Episodic ataxia type 2 [RCV000694800] Chr19:13317198 [GRCh38]
Chr19:13428012 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3724C>G (p.Leu1242Val) single nucleotide variant Inborn genetic diseases [RCV002314550] Chr19:13283365 [GRCh38]
Chr19:13394179 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2491C>A (p.Arg831Ser) single nucleotide variant Episodic ataxia type 2 [RCV000695172] Chr19:13299142 [GRCh38]
Chr19:13409956 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter) single nucleotide variant Episodic ataxia type 2 [RCV000707561]|not provided [RCV001092214] Chr19:13212204 [GRCh38]
Chr19:13323018 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2797G>A (p.Val933Met) single nucleotide variant Episodic ataxia type 2 [RCV000688118] Chr19:13298836 [GRCh38]
Chr19:13409650 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6627dup (p.His2210fs) duplication Episodic ataxia type 2 [RCV000707698] Chr19:13208908..13208909 [GRCh38]
Chr19:13319722..13319723 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3053G>C (p.Arg1018Pro) single nucleotide variant Episodic ataxia type 2 [RCV000702556]|Inborn genetic diseases [RCV004026599]|not provided [RCV003480790] Chr19:13298580 [GRCh38]
Chr19:13409394 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3622G>A (p.Asp1208Asn) single nucleotide variant CACNA1A-related disorder [RCV003985410]|Episodic ataxia type 2 [RCV000691224]|Inborn genetic diseases [RCV004025081]|not provided [RCV000996787] Chr19:13285138 [GRCh38]
Chr19:13395952 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp) single nucleotide variant CACNA1A-related disorder [RCV003985413]|Episodic ataxia type 2 [RCV000705442]|not provided [RCV001091781] Chr19:13209390 [GRCh38]
Chr19:13320204 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3584C>T (p.Pro1195Leu) single nucleotide variant Episodic ataxia type 2 [RCV000688558]|Episodic ataxia type 2 [RCV002470954] Chr19:13285176 [GRCh38]
Chr19:13395990 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.10:g.(?_13359586)_(13359819_?)del deletion Episodic ataxia type 2 [RCV000708036] Chr19:13359586..13359819 [GRCh38]
Chr19:13470400..13470633 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser) single nucleotide variant CACNA1A-related disorder [RCV003985411]|Episodic ataxia type 2 [RCV000694253]|Inborn genetic diseases [RCV002424647]|Migraine, familial hemiplegic, 1 [RCV002267622]|not provided [RCV000841214] Chr19:13298941 [GRCh38]
Chr19:13409755 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1534G>C (p.Glu512Gln) single nucleotide variant Episodic ataxia type 2 [RCV000691365]|not provided [RCV000710930] Chr19:13317133 [GRCh38]
Chr19:13427947 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6698C>T (p.Pro2233Leu) single nucleotide variant Episodic ataxia type 2 [RCV000703398] Chr19:13208838 [GRCh38]
Chr19:13319652 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4411G>A (p.Ala1471Thr) single nucleotide variant Episodic ataxia type 2 [RCV003768118]|Inborn genetic diseases [RCV002312310] Chr19:13257529 [GRCh38]
Chr19:13368343 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6669C>A (p.Pro2223=) single nucleotide variant Episodic ataxia type 2 [RCV002532995]|Inborn genetic diseases [RCV002312479] Chr19:13208867 [GRCh38]
Chr19:13319681 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1412dup (p.Glu472fs) duplication Episodic ataxia type 2 [RCV000703804] Chr19:13317254..13317255 [GRCh38]
Chr19:13428068..13428069 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3334A>C (p.Met1112Leu) single nucleotide variant Episodic ataxia type 2 [RCV000692388] Chr19:13286722 [GRCh38]
Chr19:13397536 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.235_237del (p.Phe79del) deletion Episodic ataxia type 2 [RCV000692541] Chr19:13505988..13505990 [GRCh38]
Chr19:13616802..13616804 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4876C>T (p.Arg1626Cys) single nucleotide variant Episodic ataxia type 2 [RCV000697366] Chr19:13245256 [GRCh38]
Chr19:13356070 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1669G>T (p.Val557Phe) single nucleotide variant Inborn genetic diseases [RCV001267455]|not provided [RCV000710931] Chr19:13308528 [GRCh38]
Chr19:13419342 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1906G>C (p.Gly636Arg) single nucleotide variant not provided [RCV000710934] Chr19:13308127 [GRCh38]
Chr19:13418941 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2362G>A (p.Ala788Thr) single nucleotide variant not provided [RCV000710937] Chr19:13299271 [GRCh38]
Chr19:13410085 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3532C>A (p.Leu1178Ile) single nucleotide variant Episodic ataxia type 2 [RCV002534489]|not provided [RCV000710949] Chr19:13286524 [GRCh38]
Chr19:13397338 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3694dup (p.Leu1232fs) duplication not provided [RCV000710952] Chr19:13285067..13285068 [GRCh38]
Chr19:13395881..13395882 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3692+1G>A single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001264752]|Episodic ataxia type 2 [RCV001328546]|Episodic ataxia type 2 [RCV003458325]|Episodic ataxia type 2 [RCV003768098]|Migraine, familial hemiplegic, 1 [RCV001197888]|not provided [RCV000710953] Chr19:13285067 [GRCh38]
Chr19:13395881 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_001127222.2(CACNA1A):c.3925dup (p.Arg1309fs) duplication not provided [RCV000710956] Chr19:13275913..13275914 [GRCh38]
Chr19:13386727..13386728 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3946G>A (p.Asp1316Asn) single nucleotide variant CACNA1A-related disorder [RCV003985414]|Episodic ataxia type 2 [RCV001861955]|not provided [RCV000710957] Chr19:13275893 [GRCh38]
Chr19:13386707 [GRCh37]
Chr19:19p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.622G>A (p.Gly208Arg) single nucleotide variant Inborn genetic diseases [RCV002360843]|not provided [RCV000710972] Chr19:13371697 [GRCh38]
Chr19:13482511 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln) single nucleotide variant Episodic ataxia type 2 [RCV001053349]|Inborn genetic diseases [RCV004026793]|not provided [RCV000710973] Chr19:13212140 [GRCh38]
Chr19:13322954 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.631+4C>T single nucleotide variant Episodic ataxia type 2 [RCV001221244]|not provided [RCV000710974] Chr19:13371684 [GRCh38]
Chr19:13482498 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7197G>C (p.Glu2399Asp) single nucleotide variant not provided [RCV000710978] Chr19:13207637 [GRCh38]
Chr19:13318451 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7240G>A (p.Asp2414Asn) single nucleotide variant CACNA1A-related disorder [RCV003985415]|not provided [RCV000710979] Chr19:13207594 [GRCh38]
Chr19:13318408 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7409G>A (p.Arg2470Gln) single nucleotide variant not provided [RCV000710982] Chr19:13207425 [GRCh38]
Chr19:13318239 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7436C>G (p.Ala2479Gly) single nucleotide variant not provided [RCV000710983] Chr19:13207398 [GRCh38]
Chr19:13318212 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6436G>A (p.Glu2146Lys) single nucleotide variant Episodic ataxia type 2 [RCV000703829] Chr19:13209402 [GRCh38]
Chr19:13320216 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2818A>G (p.Arg940Gly) single nucleotide variant Episodic ataxia type 2 [RCV000706583]|not specified [RCV003489838] Chr19:13298815 [GRCh38]
Chr19:13409629 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2938C>T (p.Arg980Cys) single nucleotide variant Episodic ataxia type 2 [RCV000689874]|not provided [RCV003238802] Chr19:13298695 [GRCh38]
Chr19:13409509 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003492153]|Episodic ataxia type 2 [RCV000709715]|Inborn genetic diseases [RCV002325439]|not provided [RCV001784349] Chr19:13262772 [GRCh38]
Chr19:13373586 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5626-6C>G single nucleotide variant Episodic ataxia type 2 [RCV000695225] Chr19:13224778 [GRCh38]
Chr19:13335592 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6005G>A (p.Gly2002Asp) single nucleotide variant Episodic ataxia type 2 [RCV000693198] Chr19:13212676 [GRCh38]
Chr19:13323490 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2924G>A (p.Arg975Gln) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001249729]|Episodic ataxia type 2 [RCV000693426] Chr19:13298709 [GRCh38]
Chr19:13409523 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4879G>A (p.Asp1627Asn) single nucleotide variant Episodic ataxia type 2 [RCV000695745]|Inborn genetic diseases [RCV002532322]|not provided [RCV002510961] Chr19:13245253 [GRCh38]
Chr19:13356067 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6751G>A (p.Glu2251Lys) single nucleotide variant Episodic ataxia type 2 [RCV000703120]|not provided [RCV001561162] Chr19:13208785 [GRCh38]
Chr19:13319599 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5984C>T (p.Pro1995Leu) single nucleotide variant Episodic ataxia type 2 [RCV000691066] Chr19:13212697 [GRCh38]
Chr19:13323511 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001174531]|Episodic ataxia type 2 [RCV000691097]|not provided [RCV001731893] Chr19:13359752 [GRCh38]
Chr19:13470566 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.2435G>T (p.Arg812Leu) single nucleotide variant Episodic ataxia type 2 [RCV000696048]|Inborn genetic diseases [RCV002458256] Chr19:13299198 [GRCh38]
Chr19:13410012 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3325A>T (p.Ile1109Phe) single nucleotide variant Episodic ataxia type 2 [RCV000697666]|not provided [RCV001585640] Chr19:13286731 [GRCh38]
Chr19:13397545 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4291C>T (p.Arg1431Ter) single nucleotide variant Episodic ataxia type 2 [RCV000685695]|Neurodevelopmental delay [RCV002274087] Chr19:13259661 [GRCh38]
Chr19:13370475 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp) single nucleotide variant Episodic ataxia type 2 [RCV000696771]|Inborn genetic diseases [RCV002533462]|not provided [RCV000732666] Chr19:13298617 [GRCh38]
Chr19:13409431 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2774C>T (p.Ala925Val) single nucleotide variant Episodic ataxia type 2 [RCV000700641]|not provided [RCV002473120] Chr19:13298859 [GRCh38]
Chr19:13409673 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1198+5G>A single nucleotide variant Episodic ataxia type 2 [RCV000703373] Chr19:13334373 [GRCh38]
Chr19:13445187 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.712_726dup (p.Leu238_Ile242dup) duplication Episodic ataxia type 2 [RCV000694491] Chr19:13365374..13365375 [GRCh38]
Chr19:13476188..13476189 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1413G>C (p.Lys471Asn) single nucleotide variant Episodic ataxia type 2 [RCV000697012] Chr19:13317254 [GRCh38]
Chr19:13428068 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1588A>G (p.Met530Val) single nucleotide variant Episodic ataxia type 2 [RCV000697031] Chr19:13312749 [GRCh38]
Chr19:13423563 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe) single nucleotide variant Episodic ataxia type 2 [RCV000706124] Chr19:13235621 [GRCh38]
Chr19:13346435 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.6716G>A (p.Arg2239Gln) single nucleotide variant Episodic ataxia type 2 [RCV001868349]|Inborn genetic diseases [RCV002313558] Chr19:13208820 [GRCh38]
Chr19:13319634 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4292G>A (p.Arg1431Gln) single nucleotide variant Episodic ataxia type 2 [RCV001868348]|Inborn genetic diseases [RCV002313517]|not provided [RCV001574395] Chr19:13259660 [GRCh38]
Chr19:13370474 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4684G>A (p.Val1562Met) single nucleotide variant Episodic ataxia type 2 [RCV003768133]|Inborn genetic diseases [RCV002313522] Chr19:13255166 [GRCh38]
Chr19:13365980 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3989C>T (p.Thr1330Ile) single nucleotide variant Inborn genetic diseases [RCV002315290] Chr19:13275850 [GRCh38]
Chr19:13386664 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1922del (p.Phe641fs) deletion Inborn genetic diseases [RCV002315355] Chr19:13307846 [GRCh38]
Chr19:13418660 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2256C>T (p.Ser752=) single nucleotide variant Episodic ataxia type 2 [RCV001455995]|Inborn genetic diseases [RCV002318106] Chr19:13300573 [GRCh38]
Chr19:13411387 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1634dup (p.Tyr545Ter) duplication Inborn genetic diseases [RCV002318110]|Spinocerebellar ataxia type 6 [RCV003387919] Chr19:13312702..13312703 [GRCh38]
Chr19:13423516..13423517 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.294-4A>G single nucleotide variant Episodic ataxia type 2 [RCV001862057]|Inborn genetic diseases [RCV002318615]|not provided [RCV000991667] Chr19:13455216 [GRCh38]
Chr19:13566030 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1696A>C (p.Ile566Leu) single nucleotide variant Inborn genetic diseases [RCV002318655] Chr19:13308501 [GRCh38]
Chr19:13419315 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5418C>T (p.Val1806=) single nucleotide variant Episodic ataxia type 2 [RCV003768137]|Inborn genetic diseases [RCV002313618] Chr19:13230192 [GRCh38]
Chr19:13341006 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4579G>C (p.Glu1527Gln) single nucleotide variant Inborn genetic diseases [RCV002315276] Chr19:13257361 [GRCh38]
Chr19:13368175 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1231G>T (p.Gly411Trp) single nucleotide variant Episodic ataxia type 2 [RCV001862049]|Inborn genetic diseases [RCV002315449]|not provided [RCV001759434] Chr19:13332893 [GRCh38]
Chr19:13443707 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro) single nucleotide variant Episodic ataxia type 2 [RCV001348039]|Inborn genetic diseases [RCV002316052]|Intellectual disability [RCV001251915] Chr19:13208880 [GRCh38]
Chr19:13319694 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6667C>T (p.Pro2223Ser) single nucleotide variant Episodic ataxia type 2 [RCV001320580]|Inborn genetic diseases [RCV002317613] Chr19:13208869 [GRCh38]
Chr19:13319683 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser) single nucleotide variant Episodic ataxia type 2 [RCV001053950]|Inborn genetic diseases [RCV002318203]|not provided [RCV001577172] Chr19:13286791 [GRCh38]
Chr19:13397605 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.5994A>G (p.Glu1998=) single nucleotide variant Episodic ataxia type 2 [RCV001521122]|Inborn genetic diseases [RCV002318214]|not provided [RCV000884790] Chr19:13212687 [GRCh38]
Chr19:13323501 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1490C>G (p.Ala497Gly) single nucleotide variant Inborn genetic diseases [RCV002318242] Chr19:13317177 [GRCh38]
Chr19:13427991 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1059C>A (p.Asn353Lys) single nucleotide variant Episodic ataxia type 2 [RCV001339425]|Inborn genetic diseases [RCV002318244] Chr19:13335829 [GRCh38]
Chr19:13446643 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2281A>G (p.Lys761Glu) single nucleotide variant Episodic ataxia type 2 [RCV001344187]|Inborn genetic diseases [RCV002318257]|not provided [RCV001546058] Chr19:13299352 [GRCh38]
Chr19:13410166 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys) single nucleotide variant Episodic ataxia type 2 [RCV001248032]|Inborn genetic diseases [RCV002316818]|Intellectual disability [RCV001251917] Chr19:13214241 [GRCh38]
Chr19:13325055 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1546G>A (p.Asp516Asn) single nucleotide variant Episodic ataxia type 2 [RCV001248296]|Inborn genetic diseases [RCV002315423]|not provided [RCV003482301] Chr19:13317121 [GRCh38]
Chr19:13427935 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2010C>T (p.Asn670=) single nucleotide variant CACNA1A-related disorder [RCV003985419]|Episodic ataxia type 2 [RCV001862061]|Inborn genetic diseases [RCV002318680] Chr19:13303861 [GRCh38]
Chr19:13414675 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5795A>G (p.Asn1932Ser) single nucleotide variant Episodic ataxia type 2 [RCV001314944]|Inborn genetic diseases [RCV002318698] Chr19:13214545 [GRCh38]
Chr19:13325359 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6641_6658del (p.His2214_His2219del) deletion Inborn genetic diseases [RCV002318811] Chr19:13208878..13208895 [GRCh38]
Chr19:13319692..13319709 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1121G>A (p.Arg374Gln) single nucleotide variant Inborn genetic diseases [RCV002318818]|Intellectual disability [RCV001251918] Chr19:13334455 [GRCh38]
Chr19:13445269 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2495ACA[2] (p.Asn834del) microsatellite CACNA1A-related disorder [RCV003985421]|Episodic ataxia type 2 [RCV001213236]|Inborn genetic diseases [RCV002316846]|not provided [RCV001092221] Chr19:13299130..13299132 [GRCh38]
Chr19:13409944..13409946 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3429C>G (p.Ser1143Arg) single nucleotide variant Inborn genetic diseases [RCV002317529]|not provided [RCV002510969] Chr19:13286627 [GRCh38]
Chr19:13397441 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3004A>G (p.Arg1002Gly) single nucleotide variant Inborn genetic diseases [RCV002318136] Chr19:13298629 [GRCh38]
Chr19:13409443 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2891C>A (p.Pro964His) single nucleotide variant Inborn genetic diseases [RCV002318139] Chr19:13298742 [GRCh38]
Chr19:13409556 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6142G>A (p.Glu2048Lys) single nucleotide variant Inborn genetic diseases [RCV002318152] Chr19:13212431 [GRCh38]
Chr19:13323245 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6241T>C (p.Tyr2081His) single nucleotide variant Episodic ataxia type 2 [RCV003768159]|Inborn genetic diseases [RCV002318193] Chr19:13212165 [GRCh38]
Chr19:13322979 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2633A>T (p.Asp878Val) single nucleotide variant Inborn genetic diseases [RCV002317540] Chr19:13299000 [GRCh38]
Chr19:13409814 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3726G>A (p.Leu1242=) single nucleotide variant Inborn genetic diseases [RCV002318159] Chr19:13283363 [GRCh38]
Chr19:13394177 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1692G>A (p.Glu564=) single nucleotide variant CACNA1A-related disorder [RCV003985422]|Episodic ataxia type 2 [RCV000906351]|Inborn genetic diseases [RCV002318218] Chr19:13308505 [GRCh38]
Chr19:13419319 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6730C>T (p.Arg2244Cys) single nucleotide variant Episodic ataxia type 2 [RCV001241664]|Inborn genetic diseases [RCV002318231]|not provided [RCV001576611] Chr19:13208806 [GRCh38]
Chr19:13319620 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys) single nucleotide variant Episodic ataxia type 2 [RCV000791955]|Inborn genetic diseases [RCV002318274]|not provided [RCV000991671] Chr19:13286635 [GRCh38]
Chr19:13397449 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4090-313T>C single nucleotide variant not provided [RCV001546829] Chr19:13261923 [GRCh38]
Chr19:13372737 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3164G>C (p.Gly1055Ala) single nucleotide variant Episodic ataxia type 2 [RCV000815976] Chr19:13286892 [GRCh38]
Chr19:13397706 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002226553]|not provided [RCV001548020] Chr19:13259654 [GRCh38]
Chr19:13370468 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6721C>T (p.Arg2241Trp) single nucleotide variant CACNA1A-related disorder [RCV003985430]|Episodic ataxia type 2 [RCV000813938]|not provided [RCV003222141] Chr19:13208815 [GRCh38]
Chr19:13319629 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6656_6658dup (p.His2219dup) duplication Intellectual disability [RCV001251921] Chr19:13208877..13208878 [GRCh38]
Chr19:13319691..13319692 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1197_1198+6del deletion Intellectual disability [RCV001251923] Chr19:13334372..13334379 [GRCh38]
Chr19:13445186..13445193 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7369G>T (p.Ala2457Ser) single nucleotide variant not provided [RCV001531290] Chr19:13207465 [GRCh38]
Chr19:13318279 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.607C>G (p.Leu203Val) single nucleotide variant Episodic ataxia type 2 [RCV001725866] Chr19:13371712 [GRCh38]
Chr19:13482526 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.293+182T>C single nucleotide variant not provided [RCV001571435] Chr19:13505750 [GRCh38]
Chr19:13616564 [GRCh37]
Chr19:19p13.13		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001127222.2(CACNA1A):c.6189+9G>T single nucleotide variant Episodic ataxia type 2 [RCV001477350] Chr19:13212375 [GRCh38]
Chr19:13323189 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1782-37C>T single nucleotide variant not provided [RCV001666946] Chr19:13308288 [GRCh38]
Chr19:13419102 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4756-216del deletion not provided [RCV001645807] Chr19:13253317 [GRCh38]
Chr19:13364131 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4467C>T (p.Phe1489=) single nucleotide variant Episodic ataxia type 2 [RCV001464522] Chr19:13257473 [GRCh38]
Chr19:13368287 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5941-109GT[15] microsatellite not provided [RCV001611537] Chr19:13212827..13212828 [GRCh38]
Chr19:13323641..13323642 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2524_2551del (p.Glu842fs) deletion Spinocerebellar ataxia type 6 [RCV001542499] Chr19:13299082..13299109 [GRCh38]
Chr19:13409896..13409923 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1199-298A>G single nucleotide variant not provided [RCV001585048] Chr19:13333223 [GRCh38]
Chr19:13444037 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6780+27G>A single nucleotide variant not provided [RCV001648570] Chr19:13208729 [GRCh38]
Chr19:13319543 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met) single nucleotide variant Episodic ataxia type 2 [RCV000853265]|Episodic ataxia type 2 [RCV003224808] Chr19:13308194 [GRCh38]
Chr19:13419008 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6198G>A (p.Glu2066=) single nucleotide variant Episodic ataxia type 2 [RCV001424371] Chr19:13212208 [GRCh38]
Chr19:13323022 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4950+166C>A single nucleotide variant not provided [RCV001545976] Chr19:13245016 [GRCh38]
Chr19:13355830 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-885A>G single nucleotide variant not provided [RCV001565429] Chr19:13228412 [GRCh38]
Chr19:13339226 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4950+3624C>T single nucleotide variant not provided [RCV001535358] Chr19:13241558 [GRCh38]
Chr19:13352372 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1256-47C>G single nucleotide variant not provided [RCV001574390] Chr19:13330380 [GRCh38]
Chr19:13441194 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5955C>A (p.Leu1985=) single nucleotide variant Episodic ataxia type 2 [RCV003771730]|not provided [RCV001567516] Chr19:13212726 [GRCh38]
Chr19:13323540 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6409G>A (p.Asp2137Asn) single nucleotide variant Episodic ataxia type 2 [RCV003771681]|not provided [RCV001548188] Chr19:13209429 [GRCh38]
Chr19:13320243 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5941-86_5941-85del microsatellite not provided [RCV001575056] Chr19:13212825..13212826 [GRCh38]
Chr19:13323639..13323640 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3234G>A (p.Ser1078=) single nucleotide variant Episodic ataxia type 2 [RCV000938566] Chr19:13286822 [GRCh38]
Chr19:13397636 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6781-139_6781-122del deletion not provided [RCV001610825] Chr19:13208175..13208192 [GRCh38]
Chr19:13318989..13319006 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2812_2813del (p.Gly938fs) deletion Developmental and epileptic encephalopathy, 42 [RCV001004739] Chr19:13298820..13298821 [GRCh38]
Chr19:13409634..13409635 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu) single nucleotide variant Episodic ataxia type 2 [RCV000822815]|See cases [RCV002252233]|Tip-toe gait [RCV003320369]|not provided [RCV000762255] Chr19:13212175 [GRCh38]
Chr19:13322989 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5392T>C (p.Ser1798Pro) single nucleotide variant not provided [RCV000762256] Chr19:13231718 [GRCh38]
Chr19:13342532 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2320T>C (p.Trp774Arg) single nucleotide variant not provided [RCV000762259] Chr19:13299313 [GRCh38]
Chr19:13410127 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1946del (p.Asn649fs) deletion not provided [RCV000762260] Chr19:13307822 [GRCh38]
Chr19:13418636 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1465T>C (p.Tyr489His) single nucleotide variant not provided [RCV000762261] Chr19:13317202 [GRCh38]
Chr19:13428016 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.814T>C (p.Cys272Arg) single nucleotide variant not provided [RCV000762262] Chr19:13359770 [GRCh38]
Chr19:13470584 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3483G>A (p.Arg1161=) single nucleotide variant Episodic ataxia type 2 [RCV001444552]|not provided [RCV000762257] Chr19:13286573 [GRCh38]
Chr19:13397387 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.3154C>T (p.Gln1052Ter) single nucleotide variant not provided [RCV000760585] Chr19:13286902 [GRCh38]
Chr19:13397716 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4448G>A (p.Arg1483His) single nucleotide variant not provided [RCV003314207] Chr19:13257492 [GRCh38]
Chr19:13368306 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3039C>A (p.Tyr1013Ter) single nucleotide variant not provided [RCV000760768] Chr19:13298594 [GRCh38]
Chr19:13409408 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.653C>G (p.Ser218Trp) single nucleotide variant Episodic ataxia type 2 [RCV000990172] Chr19:13365448 [GRCh38]
Chr19:13476262 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.644T>C (p.Val215Ala) single nucleotide variant Episodic ataxia type 2 [RCV000990173] Chr19:13365457 [GRCh38]
Chr19:13476271 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys) single nucleotide variant Episodic ataxia type 2 [RCV001882616]|not provided [RCV001544846] Chr19:13455205 [GRCh38]
Chr19:13566019 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.400-28C>T single nucleotide variant not provided [RCV001550825] Chr19:13453043 [GRCh38]
Chr19:13563857 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5298C>T (p.Ser1766=) single nucleotide variant Episodic ataxia type 2 [RCV003771686]|not provided [RCV001550914] Chr19:13231812 [GRCh38]
Chr19:13342626 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5941-205T>C single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554512]|Episodic ataxia type 2 [RCV001554513]|Migraine, familial hemiplegic, 1 [RCV001554514]|Spinocerebellar ataxia type 6 [RCV001554515]|not provided [RCV001655899] Chr19:13212945 [GRCh38]
Chr19:13323759 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu) single nucleotide variant Episodic ataxia type 2 [RCV001066054]|Inborn genetic diseases [RCV002554480]|not provided [RCV003222214] Chr19:13212433 [GRCh38]
Chr19:13323247 [GRCh37]
Chr19:19p13.13		 benign|uncertain significance
NM_001127222.2(CACNA1A):c.5249G>A (p.Arg1750Gln) single nucleotide variant Episodic ataxia type 2 [RCV001858738]|not provided [RCV000991676] Chr19:13234921 [GRCh38]
Chr19:13345735 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7061C>T (p.Pro2354Leu) single nucleotide variant not provided [RCV000991683] Chr19:13207773 [GRCh38]
Chr19:13318587 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.901T>C (p.Phe301Leu) single nucleotide variant Episodic ataxia type 2 [RCV002550629]|not provided [RCV000991687] Chr19:13359683 [GRCh38]
Chr19:13470497 [GRCh37]
Chr19:19p13.13		 pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.*219A>C single nucleotide variant not provided [RCV001577472] Chr19:13207094 [GRCh38]
Chr19:13317908 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6340-7C>A single nucleotide variant Episodic ataxia type 2 [RCV001859423]|not provided [RCV001663405] Chr19:13209505 [GRCh38]
Chr19:13320319 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2866C>T (p.Arg956Ter) single nucleotide variant not provided [RCV001566112] Chr19:13298767 [GRCh38]
Chr19:13409581 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.5528+1206C>G single nucleotide variant not provided [RCV001566174] Chr19:13228876 [GRCh38]
Chr19:13339690 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4403C>T (p.Ser1468Leu) single nucleotide variant not provided [RCV001570397] Chr19:13257537 [GRCh38]
Chr19:13368351 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.3367C>T (p.Arg1123Trp) single nucleotide variant Episodic ataxia type 2 [RCV001044974]|not provided [RCV002286803] Chr19:13286689 [GRCh38]
Chr19:13397503 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1987-9C>A single nucleotide variant not provided [RCV001663886] Chr19:13303893 [GRCh38]
Chr19:13414707 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.979-6C>G single nucleotide variant Episodic ataxia type 2 [RCV001067072] Chr19:13335915 [GRCh38]
Chr19:13446729 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs) duplication Episodic ataxia type 2 [RCV001553543]|Episodic ataxia type 2 [RCV003769356]|not provided [RCV000996788] Chr19:13286644..13286645 [GRCh38]
Chr19:13397458..13397459 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001839025]|Episodic ataxia type 2 [RCV001341763]|not provided [RCV000996795] Chr19:13308223 [GRCh38]
Chr19:13419037 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.716T>C (p.Ile239Thr) single nucleotide variant not provided [RCV000996799] Chr19:13365385 [GRCh38]
Chr19:13476199 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4242del (p.Asp1415fs) deletion Episodic ataxia type 2 [RCV003448529] Chr19:13261458 [GRCh38]
Chr19:13372272 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met) single nucleotide variant Episodic ataxia type 2 [RCV003771832]|not provided [RCV001665534]|not specified [RCV003323915] Chr19:13235628 [GRCh38]
Chr19:13346442 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5509G>A (p.Glu1837Lys) single nucleotide variant Episodic ataxia type 2 [RCV001045460] Chr19:13230101 [GRCh38]
Chr19:13340915 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5761G>A (p.Glu1921Lys) single nucleotide variant Episodic ataxia type 2 [RCV002539660]|not provided [RCV001665547] Chr19:13214579 [GRCh38]
Chr19:13325393 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3450C>T (p.Ser1150=) single nucleotide variant Episodic ataxia type 2 [RCV002073293]|not provided [RCV001702262] Chr19:13286606 [GRCh38]
Chr19:13397420 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6781-148TCC[3] microsatellite not provided [RCV001583485] Chr19:13208181..13208192 [GRCh38]
Chr19:13318995..13319006 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-1078CT[6] microsatellite not provided [RCV001644249] Chr19:13228592..13228593 [GRCh38]
Chr19:13339406..13339407 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4950+72G>A single nucleotide variant not provided [RCV001725604] Chr19:13245110 [GRCh38]
Chr19:13355924 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3357C>T (p.Ala1119=) single nucleotide variant Episodic ataxia type 2 [RCV000951211] Chr19:13286699 [GRCh38]
Chr19:13397513 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.714T>C (p.Leu238=) single nucleotide variant Episodic ataxia type 2 [RCV001495748] Chr19:13365387 [GRCh38]
Chr19:13476201 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4725C>T (p.Ile1575=) single nucleotide variant Episodic ataxia type 2 [RCV001436879] Chr19:13255125 [GRCh38]
Chr19:13365939 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6782G>A (p.Gly2261Asp) single nucleotide variant CACNA1A-related disorder [RCV003985459]|Episodic ataxia type 2 [RCV001485194]|not provided [RCV000923208] Chr19:13208052 [GRCh38]
Chr19:13318866 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5067+10C>G single nucleotide variant Episodic ataxia type 2 [RCV000981153] Chr19:13235604 [GRCh38]
Chr19:13346418 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1556-4C>T single nucleotide variant Episodic ataxia type 2 [RCV001438591] Chr19:13312785 [GRCh38]
Chr19:13423599 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4866+10A>G single nucleotide variant Episodic ataxia type 2 [RCV001393619] Chr19:13252981 [GRCh38]
Chr19:13363795 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4297C>A (p.Arg1433=) single nucleotide variant Episodic ataxia type 2 [RCV001504941] Chr19:13259655 [GRCh38]
Chr19:13370469 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.831C>T (p.Pro277=) single nucleotide variant Episodic ataxia type 2 [RCV000945980] Chr19:13359753 [GRCh38]
Chr19:13470567 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6012C>T (p.Asn2004=) single nucleotide variant Episodic ataxia type 2 [RCV000882520] Chr19:13212669 [GRCh38]
Chr19:13323483 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3778C>T (p.Leu1260=) single nucleotide variant Episodic ataxia type 2 [RCV000942871] Chr19:13283311 [GRCh38]
Chr19:13394125 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.588A>G (p.Ala196=) single nucleotide variant Episodic ataxia type 2 [RCV001450220] Chr19:13371731 [GRCh38]
Chr19:13482545 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2172+8C>T single nucleotide variant Episodic ataxia type 2 [RCV001452950]|Inborn genetic diseases [RCV002544534] Chr19:13303538 [GRCh38]
Chr19:13414352 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4756-4del deletion Episodic ataxia type 2 [RCV001478597] Chr19:13253105 [GRCh38]
Chr19:13363919 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1212C>T (p.Leu404=) single nucleotide variant Episodic ataxia type 2 [RCV001482885] Chr19:13332912 [GRCh38]
Chr19:13443726 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5853C>T (p.Thr1951=) single nucleotide variant CACNA1A-related disorder [RCV003985450]|Episodic ataxia type 2 [RCV001410395]|not provided [RCV000900160] Chr19:13214320 [GRCh38]
Chr19:13325134 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1143G>A (p.Arg381=) single nucleotide variant Episodic ataxia type 2 [RCV001478190] Chr19:13334433 [GRCh38]
Chr19:13445247 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4836T>C (p.Cys1612=) single nucleotide variant Episodic ataxia type 2 [RCV001477330] Chr19:13253021 [GRCh38]
Chr19:13363835 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3035C>A (p.Thr1012Lys) single nucleotide variant Episodic ataxia type 2 [RCV001049225]|Inborn genetic diseases [RCV002436596] Chr19:13298598 [GRCh38]
Chr19:13409412 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4786G>A (p.Ala1596Thr) single nucleotide variant Episodic ataxia type 2 [RCV001038794]|not provided [RCV001563380] Chr19:13253071 [GRCh38]
Chr19:13363885 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6162C>A (p.Asp2054Glu) single nucleotide variant Episodic ataxia type 2 [RCV001041789]|Inborn genetic diseases [RCV002552503] Chr19:13212411 [GRCh38]
Chr19:13323225 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1442G>T (p.Arg481Leu) single nucleotide variant Episodic ataxia type 2 [RCV001065246] Chr19:13317225 [GRCh38]
Chr19:13428039 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2357del (p.Leu786fs) deletion Episodic ataxia type 2 [RCV001041874] Chr19:13299276 [GRCh38]
Chr19:13410090 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5529-1263G>T single nucleotide variant Episodic ataxia type 2 [RCV001058623]|not provided [RCV001507935] Chr19:13228790 [GRCh38]
Chr19:13339604 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys) single nucleotide variant Episodic ataxia type 2 [RCV001051471]|Episodic ataxia type 2 [RCV002497405]|not provided [RCV001759985] Chr19:13330283 [GRCh38]
Chr19:13441097 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.636A>G (p.Leu212=) single nucleotide variant Episodic ataxia type 2 [RCV001058912] Chr19:13365465 [GRCh38]
Chr19:13476279 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln) single nucleotide variant not provided [RCV001702589]|not specified [RCV001288056] Chr19:13207394 [GRCh38]
Chr19:13318208 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.1427G>A (p.Arg476His) single nucleotide variant Episodic ataxia type 2 [RCV001048359]|not provided [RCV001570122] Chr19:13317240 [GRCh38]
Chr19:13428054 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2257G>A (p.Ala753Thr) single nucleotide variant Episodic ataxia type 2 [RCV001051978]|Inborn genetic diseases [RCV002445274]|not provided [RCV003238832] Chr19:13300572 [GRCh38]
Chr19:13411386 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1303C>T (p.Pro435Ser) single nucleotide variant Episodic ataxia type 2 [RCV001060236] Chr19:13330286 [GRCh38]
Chr19:13441100 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3479C>G (p.Ala1160Gly) single nucleotide variant Episodic ataxia type 2 [RCV001036354] Chr19:13286577 [GRCh38]
Chr19:13397391 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2679G>T (p.Arg893=) single nucleotide variant Episodic ataxia type 2 [RCV001037375] Chr19:13298954 [GRCh38]
Chr19:13409768 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3124C>A (p.Pro1042Thr) single nucleotide variant Episodic ataxia type 2 [RCV001057537]|not provided [RCV003233941] Chr19:13286932 [GRCh38]
Chr19:13397746 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2755_2769dup (p.Glu919_Gly923dup) duplication Episodic ataxia type 2 [RCV001060723] Chr19:13298863..13298864 [GRCh38]
Chr19:13409677..13409678 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs) duplication Developmental and epileptic encephalopathy, 42 [RCV003141770]|Episodic ataxia type 2 [RCV000790430] Chr19:13298818..13298819 [GRCh38]
Chr19:13409632..13409633 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.6339+309T>G single nucleotide variant not provided [RCV000826826] Chr19:13210308 [GRCh38]
Chr19:13321122 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4371G>A (p.Thr1457=) single nucleotide variant Episodic ataxia type 2 [RCV001214082]|Seizure [RCV000781966]|not provided [RCV001759476] Chr19:13259581 [GRCh38]
Chr19:13370395 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1965A>T (p.Ala655=) single nucleotide variant Episodic ataxia type 2 [RCV002536098]|not provided [RCV000827565] Chr19:13307803 [GRCh38]
Chr19:13418617 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5625+279C>T single nucleotide variant not provided [RCV000827735] Chr19:13227152 [GRCh38]
Chr19:13337966 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1198+326T>A single nucleotide variant not provided [RCV000827738] Chr19:13334052 [GRCh38]
Chr19:13444866 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5056C>T (p.Gln1686Ter) single nucleotide variant Episodic ataxia type 2 [RCV000817571]|Episodic ataxia type 2 [RCV001706710] Chr19:13235625 [GRCh38]
Chr19:13346439 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.2310C>G (p.Ala770=) single nucleotide variant Episodic ataxia type 2 [RCV000981449] Chr19:13299323 [GRCh38]
Chr19:13410137 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3405C>A (p.Gly1135=) single nucleotide variant Episodic ataxia type 2 [RCV001471970] Chr19:13286651 [GRCh38]
Chr19:13397465 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4951-3del deletion Episodic ataxia type 2 [RCV001445803] Chr19:13235733 [GRCh38]
Chr19:13346547 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6189+8T>C single nucleotide variant Episodic ataxia type 2 [RCV000977533] Chr19:13212376 [GRCh38]
Chr19:13323190 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3666C>T (p.Ser1222=) single nucleotide variant Episodic ataxia type 2 [RCV000977590] Chr19:13285094 [GRCh38]
Chr19:13395908 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4197G>A (p.Lys1399=) single nucleotide variant Episodic ataxia type 2 [RCV001471134] Chr19:13261503 [GRCh38]
Chr19:13372317 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3036G>A (p.Thr1012=) single nucleotide variant Episodic ataxia type 2 [RCV001455200] Chr19:13298597 [GRCh38]
Chr19:13409411 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3105C>T (p.Ser1035=) single nucleotide variant Episodic ataxia type 2 [RCV000919614] Chr19:13286951 [GRCh38]
Chr19:13397765 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4389-7C>T single nucleotide variant Episodic ataxia type 2 [RCV000921011] Chr19:13257558 [GRCh38]
Chr19:13368372 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2349G>A (p.Lys783=) single nucleotide variant Episodic ataxia type 2 [RCV001448432] Chr19:13299284 [GRCh38]
Chr19:13410098 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2937C>T (p.His979=) single nucleotide variant Episodic ataxia type 2 [RCV000983163] Chr19:13298696 [GRCh38]
Chr19:13409510 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4389-5T>C single nucleotide variant Episodic ataxia type 2 [RCV001405152]|Inborn genetic diseases [RCV002332904] Chr19:13257556 [GRCh38]
Chr19:13368370 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2880G>T (p.Ala960=) single nucleotide variant Episodic ataxia type 2 [RCV001451205] Chr19:13298753 [GRCh38]
Chr19:13409567 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3045G>A (p.Gly1015=) single nucleotide variant Episodic ataxia type 2 [RCV000945528] Chr19:13298588 [GRCh38]
Chr19:13409402 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6084G>A (p.Pro2028=) single nucleotide variant CACNA1A-related disorder [RCV003985465]|Episodic ataxia type 2 [RCV000949162]|Inborn genetic diseases [RCV002354844]|not provided [RCV001585879] Chr19:13212489 [GRCh38]
Chr19:13323303 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.979-10C>A single nucleotide variant CACNA1A-related disorder [RCV003985468]|Episodic ataxia type 2 [RCV000954362]|Episodic ataxia type 2 [RCV002489321]|not provided [RCV001593149]|not specified [RCV001664572] Chr19:13335919 [GRCh38]
Chr19:13446733 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.2340G>A (p.Glu780=) single nucleotide variant Episodic ataxia type 2 [RCV000978016] Chr19:13299293 [GRCh38]
Chr19:13410107 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.913C>T (p.Leu305=) single nucleotide variant Episodic ataxia type 2 [RCV000939153]|not provided [RCV003151824] Chr19:13359671 [GRCh38]
Chr19:13470485 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5232C>A (p.Ala1744=) single nucleotide variant not provided [RCV000980421] Chr19:13234938 [GRCh38]
Chr19:13345752 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5859G>A (p.Gly1953=) single nucleotide variant Episodic ataxia type 2 [RCV001518294]|Inborn genetic diseases [RCV002354863]|not provided [RCV003413763]|not specified [RCV001289292] Chr19:13214314 [GRCh38]
Chr19:13325128 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.2592C>T (p.Tyr864=) single nucleotide variant Episodic ataxia type 2 [RCV002544577] Chr19:13299041 [GRCh38]
Chr19:13409855 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6705C>T (p.His2235=) single nucleotide variant Episodic ataxia type 2 [RCV001392707]|not provided [RCV003320772] Chr19:13208831 [GRCh38]
Chr19:13319645 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6091G>C (p.Val2031Leu) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV003313344] Chr19:13212482 [GRCh38]
Chr19:13323296 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6661_6662insACCCCC (p.Pro2220_Pro2221insHisPro) microsatellite Inborn genetic diseases [RCV003248711] Chr19:13208874..13208875 [GRCh38]
Chr19:13319688..13319689 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1669-346G>A single nucleotide variant not provided [RCV000827732] Chr19:13308874 [GRCh38]
Chr19:13419688 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.784+313C>T single nucleotide variant not provided [RCV000827757] Chr19:13365004 [GRCh38]
Chr19:13475818 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5528+6A>G single nucleotide variant Episodic ataxia type 2 [RCV001486935]|not provided [RCV000841350] Chr19:13230076 [GRCh38]
Chr19:13340890 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-969_5529-968del microsatellite not provided [RCV000837171] Chr19:13228495..13228496 [GRCh38]
Chr19:13339309..13339310 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6663G>A (p.Pro2221=) single nucleotide variant Episodic ataxia type 2 [RCV001504607]|not provided [RCV003413740] Chr19:13208873 [GRCh38]
Chr19:13319687 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3693-20C>T single nucleotide variant Episodic ataxia type 2 [RCV002067477]|not provided [RCV000828099] Chr19:13283416 [GRCh38]
Chr19:13394230 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.1198+328A>T single nucleotide variant not provided [RCV000827731] Chr19:13334050 [GRCh38]
Chr19:13444864 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4710G>A (p.Thr1570=) single nucleotide variant Episodic ataxia type 2 [RCV000915077] Chr19:13255140 [GRCh38]
Chr19:13365954 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-1225A>G single nucleotide variant Episodic ataxia type 2 [RCV000818027]|not provided [RCV002269319] Chr19:13228752 [GRCh38]
Chr19:13339566 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.293+53G>A single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554429]|Episodic ataxia type 2 [RCV001554430]|Migraine, familial hemiplegic, 1 [RCV001554431]|Spinocerebellar ataxia type 6 [RCV001554432]|not provided [RCV000837745] Chr19:13505879 [GRCh38]
Chr19:13616693 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4089+71T>C single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554646]|Episodic ataxia type 2 [RCV001554647]|Migraine, familial hemiplegic, 1 [RCV001554648]|Spinocerebellar ataxia type 6 [RCV001554649]|not provided [RCV000837752] Chr19:13262663 [GRCh38]
Chr19:13373477 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4090-207T>G single nucleotide variant not provided [RCV000837753] Chr19:13261817 [GRCh38]
Chr19:13372631 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4090-165G>A single nucleotide variant not provided [RCV000837754] Chr19:13261775 [GRCh38]
Chr19:13372589 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4867-71A>C single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554638]|Episodic ataxia type 2 [RCV001554639]|Migraine, familial hemiplegic, 1 [RCV001554640]|Spinocerebellar ataxia type 6 [RCV001554641]|not provided [RCV000837757] Chr19:13245336 [GRCh38]
Chr19:13356150 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5249+78G>T single nucleotide variant not provided [RCV000837759] Chr19:13234843 [GRCh38]
Chr19:13345657 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5249+209C>T single nucleotide variant not provided [RCV000837760] Chr19:13234712 [GRCh38]
Chr19:13345526 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5626-56G>A single nucleotide variant not provided [RCV000837770] Chr19:13224828 [GRCh38]
Chr19:13335642 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5731+49C>T single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554516]|Episodic ataxia type 2 [RCV001554517]|Migraine, familial hemiplegic, 1 [RCV001554518]|Spinocerebellar ataxia type 6 [RCV001554519]|not provided [RCV000837772] Chr19:13224618 [GRCh38]
Chr19:13335432 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5940+229C>T single nucleotide variant not provided [RCV000837775] Chr19:13214004 [GRCh38]
Chr19:13324818 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.785-93G>A single nucleotide variant not provided [RCV000837811] Chr19:13359892 [GRCh38]
Chr19:13470706 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6472C>T (p.Arg2158Cys) single nucleotide variant CACNA1A-related disorder [RCV003985431]|Episodic ataxia type 2 [RCV000823294] Chr19:13209366 [GRCh38]
Chr19:13320180 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1345+76G>A single nucleotide variant not provided [RCV000839782] Chr19:13330168 [GRCh38]
Chr19:13440982 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2280-68C>A single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554650]|Episodic ataxia type 2 [RCV001554651]|Migraine, familial hemiplegic, 1 [RCV001554652]|Spinocerebellar ataxia type 6 [RCV001554653]|not provided [RCV000839787] Chr19:13299421 [GRCh38]
Chr19:13410235 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3090-165A>G single nucleotide variant not provided [RCV000839788] Chr19:13287131 [GRCh38]
Chr19:13397945 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3692+156G>A single nucleotide variant not provided [RCV000839789] Chr19:13284912 [GRCh38]
Chr19:13395726 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3883-90G>A single nucleotide variant not provided [RCV000839794] Chr19:13276046 [GRCh38]
Chr19:13386860 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5941-52C>T single nucleotide variant not provided [RCV000839803] Chr19:13212792 [GRCh38]
Chr19:13323606 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001031011]|Episodic ataxia type 2 [RCV000793441] Chr19:13308150 [GRCh38]
Chr19:13418964 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.4388+221C>A single nucleotide variant not provided [RCV000839857] Chr19:13259343 [GRCh38]
Chr19:13370157 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.400-173C>T single nucleotide variant not provided [RCV000839872] Chr19:13453188 [GRCh38]
Chr19:13564002 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.400-123G>T single nucleotide variant not provided [RCV000839873] Chr19:13453138 [GRCh38]
Chr19:13563952 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2172+4G>A single nucleotide variant not provided [RCV000842569] Chr19:13303542 [GRCh38]
Chr19:13414356 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del) deletion Episodic ataxia type 2 [RCV003768480]|Spinocerebellar ataxia type 6 [RCV000791156] Chr19:13298625..13298627 [GRCh38]
Chr19:13409439..13409441 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro) single nucleotide variant CACNA1A-related disorder [RCV003985429]|Episodic ataxia type 2 [RCV001869248]|Episodic ataxia type 2 [RCV002227217]|Inborn genetic diseases [RCV002535839] Chr19:13235684 [GRCh38]
Chr19:13346498 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.3532del (p.Leu1178fs) deletion Episodic ataxia type 2 [RCV000798464] Chr19:13286524 [GRCh38]
Chr19:13397338 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5940+5G>A single nucleotide variant Episodic ataxia type 2 [RCV000816712]|Inborn genetic diseases [RCV002352434]|not provided [RCV001576675] Chr19:13214228 [GRCh38]
Chr19:13325042 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3053G>A (p.Arg1018Gln) single nucleotide variant Episodic ataxia type 2 [RCV000816772] Chr19:13298580 [GRCh38]
Chr19:13409394 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1256-240T>C single nucleotide variant not provided [RCV000839981] Chr19:13330573 [GRCh38]
Chr19:13441387 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1256-194T>G single nucleotide variant not provided [RCV000839985] Chr19:13330527 [GRCh38]
Chr19:13441341 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1345+72dup duplication not provided [RCV000839986] Chr19:13330171..13330172 [GRCh38]
Chr19:13440985..13440986 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6340-192G>A single nucleotide variant not provided [RCV000840050] Chr19:13209690 [GRCh38]
Chr19:13320504 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3368G>A (p.Arg1123Gln) single nucleotide variant Episodic ataxia type 2 [RCV000800578]|not provided [RCV003332257] Chr19:13286688 [GRCh38]
Chr19:13397502 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1394C>T (p.Ser465Leu) single nucleotide variant Episodic ataxia type 2 [RCV000802054] Chr19:13317273 [GRCh38]
Chr19:13428087 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2651C>T (p.Ala884Val) single nucleotide variant Episodic ataxia type 2 [RCV000818211] Chr19:13298982 [GRCh38]
Chr19:13409796 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1663T>C (p.Cys555Arg) single nucleotide variant Episodic ataxia type 2 [RCV000793145] Chr19:13312674 [GRCh38]
Chr19:13423488 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2755G>A (p.Glu919Lys) single nucleotide variant Episodic ataxia type 2 [RCV000802763]|not provided [RCV001766665] Chr19:13298878 [GRCh38]
Chr19:13409692 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4556A>G (p.Lys1519Arg) single nucleotide variant not provided [RCV000996786] Chr19:13257384 [GRCh38]
Chr19:13368198 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.920C>T (p.Ala307Val) single nucleotide variant not provided [RCV000996797] Chr19:13359664 [GRCh38]
Chr19:13470478 [GRCh37]
Chr19:19p13.13		 uncertain significance
GRCh37/hg19 19p13.2(chr19:13563690-13617038)x1 copy number loss not provided [RCV000997023] Chr19:13563690..13617038 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001127222.2(CACNA1A):c.3481A>G (p.Arg1161Gly) single nucleotide variant Episodic ataxia type 2 [RCV000805403] Chr19:13286575 [GRCh38]
Chr19:13397389 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4135A>T (p.Ile1379Phe) single nucleotide variant Episodic ataxia type 2 [RCV000806143] Chr19:13261565 [GRCh38]
Chr19:13372379 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5452C>G (p.Arg1818Gly) single nucleotide variant Episodic ataxia type 2 [RCV000806413] Chr19:13230158 [GRCh38]
Chr19:13340972 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3701G>C (p.Arg1234Pro) single nucleotide variant Episodic ataxia type 2 [RCV000806595] Chr19:13283388 [GRCh38]
Chr19:13394202 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6303+1G>A single nucleotide variant Episodic ataxia type 2 [RCV000826158] Chr19:13212102 [GRCh38]
Chr19:13322916 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3090-324C>T single nucleotide variant not provided [RCV000829057] Chr19:13287290 [GRCh38]
Chr19:13398104 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.539+8G>T single nucleotide variant Episodic ataxia type 2 [RCV000937591] Chr19:13452868 [GRCh38]
Chr19:13563682 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5732-311G>A single nucleotide variant not provided [RCV000826825] Chr19:13214919 [GRCh38]
Chr19:13325733 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.785-120del deletion not provided [RCV000836884] Chr19:13359919 [GRCh38]
Chr19:13470733 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1198+168T>C single nucleotide variant not provided [RCV000836885] Chr19:13334210 [GRCh38]
Chr19:13445024 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5840-82C>G single nucleotide variant not provided [RCV000836979] Chr19:13214415 [GRCh38]
Chr19:13325229 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4089+137T>A single nucleotide variant not provided [RCV000837037] Chr19:13262597 [GRCh38]
Chr19:13373411 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile) single nucleotide variant Episodic ataxia type 2 [RCV001339446]|Episodic ataxia type 2 [RCV003333114]|not provided [RCV000991670] Chr19:13286754 [GRCh38]
Chr19:13397568 [GRCh37]
Chr19:19p13.13		 benign|uncertain significance
NM_001127222.2(CACNA1A):c.1083-266C>T single nucleotide variant not provided [RCV000826802] Chr19:13334759 [GRCh38]
Chr19:13445573 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1556-289A>T single nucleotide variant not provided [RCV000826823] Chr19:13313070 [GRCh38]
Chr19:13423884 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4867-301A>G single nucleotide variant not provided [RCV000826824] Chr19:13245566 [GRCh38]
Chr19:13356380 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6780+256G>C single nucleotide variant not provided [RCV000826827] Chr19:13208500 [GRCh38]
Chr19:13319314 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5811G>A (p.Thr1937=) single nucleotide variant Episodic ataxia type 2 [RCV002067439]|not provided [RCV000827233] Chr19:13214529 [GRCh38]
Chr19:13325343 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2173-284T>A single nucleotide variant not provided [RCV000830337] Chr19:13300940 [GRCh38]
Chr19:13411754 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5732-197G>A single nucleotide variant not provided [RCV000837057] Chr19:13214805 [GRCh38]
Chr19:13325619 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6189+41G>A single nucleotide variant not provided [RCV000837058] Chr19:13212343 [GRCh38]
Chr19:13323157 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1256-267TAAA[2] microsatellite not provided [RCV000826805] Chr19:13330589..13330592 [GRCh38]
Chr19:13441403..13441406 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5732-39del deletion not provided [RCV000836955] Chr19:13214647 [GRCh38]
Chr19:13325461 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5528+1223C>T single nucleotide variant not provided [RCV000833780] Chr19:13228859 [GRCh38]
Chr19:13339673 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6527-134C>T single nucleotide variant not provided [RCV000837262] Chr19:13209143 [GRCh38]
Chr19:13319957 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2279+232del deletion not provided [RCV000837858] Chr19:13300318 [GRCh38]
Chr19:13411132 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.631+14C>T single nucleotide variant Episodic ataxia type 2 [RCV002062213]|not provided [RCV000827509] Chr19:13371674 [GRCh38]
Chr19:13482488 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3823-295G>T single nucleotide variant not provided [RCV000827740] Chr19:13277423 [GRCh38]
Chr19:13388237 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3233C>T (p.Ser1078Leu) single nucleotide variant Episodic ataxia type 2 [RCV000807271]|not provided [RCV001507936] Chr19:13286823 [GRCh38]
Chr19:13397637 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.979-243A>G single nucleotide variant not provided [RCV000837746] Chr19:13336152 [GRCh38]
Chr19:13446966 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1198+48G>A single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554776]|Episodic ataxia type 2 [RCV001554777]|Migraine, familial hemiplegic, 1 [RCV001554778]|Spinocerebellar ataxia type 6 [RCV001554779]|not provided [RCV000837747] Chr19:13334330 [GRCh38]
Chr19:13445144 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu) single nucleotide variant CACNA1A-related disorder [RCV003444109]|Episodic ataxia type 2 [RCV000812748]|Inborn genetic diseases [RCV002538130]|not provided [RCV001585746] Chr19:13212125 [GRCh38]
Chr19:13322939 [GRCh37]
Chr19:19p13.13		 uncertain significance|not provided
NM_001127222.2(CACNA1A):c.3533del (p.Leu1178fs) deletion Episodic ataxia type 2 [RCV000817011] Chr19:13286523 [GRCh38]
Chr19:13397337 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1255+132T>C single nucleotide variant not provided [RCV000841197] Chr19:13332737 [GRCh38]
Chr19:13443551 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1256-194T>A single nucleotide variant not provided [RCV000841198] Chr19:13330527 [GRCh38]
Chr19:13441341 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3238G>A (p.Ala1080Thr) single nucleotide variant Episodic ataxia type 2 [RCV000819064] Chr19:13286818 [GRCh38]
Chr19:13397632 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2427G>T (p.Arg809=) single nucleotide variant not provided [RCV000831425] Chr19:13299206 [GRCh38]
Chr19:13410020 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5732-75A>G single nucleotide variant not provided [RCV000831635] Chr19:13214683 [GRCh38]
Chr19:13325497 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2172+14G>A single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001809859]|Episodic ataxia type 2 [RCV002536143]|not provided [RCV000841941] Chr19:13303532 [GRCh38]
Chr19:13414346 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3989+13G>A single nucleotide variant Episodic ataxia type 2 [RCV002068607]|not provided [RCV000842167] Chr19:13275837 [GRCh38]
Chr19:13386651 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1556-164G>A single nucleotide variant not provided [RCV000839783] Chr19:13312945 [GRCh38]
Chr19:13423759 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1914-39G>A single nucleotide variant not provided [RCV000839784] Chr19:13307893 [GRCh38]
Chr19:13418707 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2280-212C>T single nucleotide variant not provided [RCV000839785] Chr19:13299565 [GRCh38]
Chr19:13410379 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3693-127T>C single nucleotide variant not provided [RCV000839791] Chr19:13283523 [GRCh38]
Chr19:13394337 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4756-97G>A single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554642]|Episodic ataxia type 2 [RCV001554643]|Migraine, familial hemiplegic, 1 [RCV001554644]|Spinocerebellar ataxia type 6 [RCV001554645]|not provided [RCV000839860] Chr19:13253198 [GRCh38]
Chr19:13364012 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5341T>C (p.Cys1781Arg) single nucleotide variant not provided [RCV000996783] Chr19:13231769 [GRCh38]
Chr19:13342583 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003314656]|Episodic ataxia type 2 [RCV002550702]|Inborn genetic diseases [RCV002409326]|not provided [RCV000996793] Chr19:13308157 [GRCh38]
Chr19:13418971 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1555+259G>A single nucleotide variant not provided [RCV000826822] Chr19:13316853 [GRCh38]
Chr19:13427667 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6303+69A>C single nucleotide variant not provided [RCV000836920] Chr19:13212034 [GRCh38]
Chr19:13322848 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6526+84G>A single nucleotide variant not provided [RCV000836921] Chr19:13209228 [GRCh38]
Chr19:13320042 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5115T>G (p.Tyr1705Ter) single nucleotide variant Episodic ataxia type 2 [RCV000799538] Chr19:13235227 [GRCh38]
Chr19:13346041 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3308C>T (p.Pro1103Leu) single nucleotide variant Episodic ataxia type 2 [RCV001517312]|Inborn genetic diseases [RCV002538253]|not provided [RCV000827116] Chr19:13286748 [GRCh38]
Chr19:13397562 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.1555+24C>T single nucleotide variant not provided [RCV000837296] Chr19:13317088 [GRCh38]
Chr19:13427902 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4089+5_4089+6del microsatellite CACNA1A-related disorder [RCV003985433]|Episodic ataxia type 2 [RCV001079920]|not provided [RCV000838214]|not specified [RCV001288843] Chr19:13262728..13262729 [GRCh38]
Chr19:13373542..13373543 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.293+277A>G single nucleotide variant not provided [RCV000827736] Chr19:13505655 [GRCh38]
Chr19:13616469 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2408G>A (p.Trp803Ter) single nucleotide variant Episodic ataxia type 2 [RCV000806243] Chr19:13299225 [GRCh38]
Chr19:13410039 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1555+2del deletion Episodic ataxia type 2 [RCV000806796] Chr19:13317110 [GRCh38]
Chr19:13427924 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp) single nucleotide variant Developmental and epileptic encephalopathy, 1 [RCV001169896]|not provided [RCV001091780] Chr19:13207710 [GRCh38]
Chr19:13318524 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001089748]|Episodic ataxia type 2 [RCV000793236]|Episodic ataxia type 2 [RCV002290431]|Episodic ataxia type 2 [RCV003987706] Chr19:13455184 [GRCh38]
Chr19:13565998 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance|not provided
NM_001127222.2(CACNA1A):c.6367C>T (p.Arg2123Cys) single nucleotide variant Episodic ataxia type 2 [RCV000809705]|Inborn genetic diseases [RCV004028679] Chr19:13209471 [GRCh38]
Chr19:13320285 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002250722]|Episodic ataxia type 2 [RCV001066982]|not provided [RCV001759838] Chr19:13230133 [GRCh38]
Chr19:13340947 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5931C>T (p.Arg1977=) single nucleotide variant Episodic ataxia type 2 [RCV001045800] Chr19:13214242 [GRCh38]
Chr19:13325056 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.175A>G (p.Met59Val) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV000790469] Chr19:13506050 [GRCh38]
Chr19:13616864 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5637del (p.Met1880fs) deletion Episodic ataxia type 2 [RCV000811974] Chr19:13224761 [GRCh38]
Chr19:13335575 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6461G>T (p.Arg2154Leu) single nucleotide variant Episodic ataxia type 2 [RCV000822268] Chr19:13209377 [GRCh38]
Chr19:13320191 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3841T>A (p.Tyr1281Asn) single nucleotide variant Episodic ataxia type 2 [RCV001067687] Chr19:13277110 [GRCh38]
Chr19:13387924 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2173-271A>G single nucleotide variant not provided [RCV000828645] Chr19:13300927 [GRCh38]
Chr19:13411741 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1668+339C>T single nucleotide variant not provided [RCV000830644] Chr19:13312330 [GRCh38]
Chr19:13423144 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1082+186C>A single nucleotide variant not provided [RCV000830921] Chr19:13335620 [GRCh38]
Chr19:13446434 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003768490]|Episodic ataxia type 2 [RCV000796072]|Inborn genetic diseases [RCV002534592]|not provided [RCV001531292] Chr19:13209354 [GRCh38]
Chr19:13320168 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.676_784+1178del deletion Episodic ataxia type 2 [RCV000796445] Chr19:13364139..13365425 [GRCh38]
Chr19:13474953..13476239 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6316C>T (p.Arg2106Trp) single nucleotide variant Episodic ataxia type 2 [RCV000797445]|not provided [RCV001507934] Chr19:13210640 [GRCh38]
Chr19:13321454 [GRCh37]
Chr19:19p13.13		 benign|uncertain significance
NM_001127222.2(CACNA1A):c.1198+301G>C single nucleotide variant not provided [RCV000826803] Chr19:13334077 [GRCh38]
Chr19:13444891 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6613C>G (p.Arg2205Gly) single nucleotide variant Episodic ataxia type 2 [RCV001043760]|not provided [RCV003117719] Chr19:13208923 [GRCh38]
Chr19:13319737 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1059C>G (p.Asn353Lys) single nucleotide variant Episodic ataxia type 2 [RCV000990170] Chr19:13335829 [GRCh38]
Chr19:13446643 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1035C>G (p.Ile345Met) single nucleotide variant Episodic ataxia type 2 [RCV000990171]|Episodic ataxia type 2 [RCV001056855]|Migraine, familial hemiplegic, 1 [RCV003227881]|not provided [RCV001772180] Chr19:13335853 [GRCh38]
Chr19:13446667 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7404C>A (p.His2468Gln) single nucleotide variant CACNA1A-related disorder [RCV003985482] Chr19:13207430 [GRCh38]
Chr19:13318244 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6780+3G>C single nucleotide variant Episodic ataxia type 2 [RCV000799254]|not provided [RCV001558354] Chr19:13208753 [GRCh38]
Chr19:13319567 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2759C>G (p.Ala920Gly) single nucleotide variant Episodic ataxia type 2 [RCV001515100]|not provided [RCV000991665] Chr19:13298874 [GRCh38]
Chr19:13409688 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=) single nucleotide variant CACNA1A-related disorder [RCV003985474]|Episodic ataxia type 2 [RCV001417455]|Inborn genetic diseases [RCV002320203]|not provided [RCV000991669] Chr19:13286828 [GRCh38]
Chr19:13397642 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4663C>T (p.Gln1555Ter) single nucleotide variant not provided [RCV000991673] Chr19:13255187 [GRCh38]
Chr19:13366001 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.7426T>C (p.Tyr2476His) single nucleotide variant Inborn genetic diseases [RCV002549765]|not provided [RCV000991685] Chr19:13207408 [GRCh38]
Chr19:13318222 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6263G>C (p.Gly2088Ala) single nucleotide variant Episodic ataxia type 2 [RCV001367717]|not provided [RCV001091783] Chr19:13212143 [GRCh38]
Chr19:13322957 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6317G>A (p.Arg2106Gln) single nucleotide variant Episodic ataxia type 2 [RCV001862700]|not provided [RCV001091782] Chr19:13210639 [GRCh38]
Chr19:13321453 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.7317dup (p.Val2440fs) duplication not provided [RCV001091778] Chr19:13207516..13207517 [GRCh38]
Chr19:13318330..13318331 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.372T>G (p.Asp124Glu) single nucleotide variant not provided [RCV003238962] Chr19:13455134 [GRCh38]
Chr19:13565948 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3814C>A (p.Arg1272=) single nucleotide variant Episodic ataxia type 2 [RCV000810601] Chr19:13283275 [GRCh38]
Chr19:13394089 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5249+165_5249+189del deletion not provided [RCV000839800] Chr19:13234732..13234756 [GRCh38]
Chr19:13345546..13345570 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.536C>T (p.Thr179Met) single nucleotide variant Episodic ataxia type 2 [RCV000819009]|not provided [RCV003411811] Chr19:13452879 [GRCh38]
Chr19:13563693 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3464A>G (p.Asn1155Ser) single nucleotide variant Episodic ataxia type 2 [RCV000823191]|not provided [RCV003232129] Chr19:13286592 [GRCh38]
Chr19:13397406 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3532C>G (p.Leu1178Val) single nucleotide variant Episodic ataxia type 2 [RCV000824333]|Inborn genetic diseases [RCV004029175] Chr19:13286524 [GRCh38]
Chr19:13397338 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1256-224C>A single nucleotide variant not provided [RCV000839983] Chr19:13330557 [GRCh38]
Chr19:13441371 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2491C>T (p.Arg831Cys) single nucleotide variant Episodic ataxia type 2 [RCV000791579] Chr19:13299142 [GRCh38]
Chr19:13409956 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1082+308T>C single nucleotide variant not provided [RCV000828644] Chr19:13335498 [GRCh38]
Chr19:13446312 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1199-194A>G single nucleotide variant not provided [RCV000836860] Chr19:13333119 [GRCh38]
Chr19:13443933 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3693-107G>A single nucleotide variant not provided [RCV000836861] Chr19:13283503 [GRCh38]
Chr19:13394317 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1291G>A (p.Asp431Asn) single nucleotide variant Episodic ataxia type 2 [RCV000793233] Chr19:13330298 [GRCh38]
Chr19:13441112 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5439T>G (p.Phe1813Leu) single nucleotide variant Episodic ataxia type 2 [RCV000793454] Chr19:13230171 [GRCh38]
Chr19:13340985 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4215C>A (p.Cys1405Ter) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003314370] Chr19:13261485 [GRCh38]
Chr19:13372299 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3100G>A (p.Gly1034Ser) single nucleotide variant Episodic ataxia type 2 [RCV000794333] Chr19:13286956 [GRCh38]
Chr19:13397770 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5238G>C (p.Met1746Ile) single nucleotide variant Episodic ataxia type 2 [RCV000794714] Chr19:13234932 [GRCh38]
Chr19:13345746 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5250-55G>A single nucleotide variant not provided [RCV000837102] Chr19:13231915 [GRCh38]
Chr19:13342729 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1913+112G>A single nucleotide variant not provided [RCV000837182] Chr19:13308008 [GRCh38]
Chr19:13418822 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2173-62C>G single nucleotide variant not provided [RCV000837297] Chr19:13300718 [GRCh38]
Chr19:13411532 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5952C>A (p.Pro1984=) single nucleotide variant Episodic ataxia type 2 [RCV001414514] Chr19:13212729 [GRCh38]
Chr19:13323543 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.135A>G (p.Gln45=) single nucleotide variant Episodic ataxia type 2 [RCV002066485] Chr19:13506090 [GRCh38]
Chr19:13616904 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His) single nucleotide variant Episodic ataxia type 2 [RCV000796030]|Inborn genetic diseases [RCV002537017]|not provided [RCV001578054] Chr19:13208856 [GRCh38]
Chr19:13319670 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.2022C>A (p.Tyr674Ter) single nucleotide variant Episodic ataxia type 2 [RCV000796048] Chr19:13303849 [GRCh38]
Chr19:13414663 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1555+121C>T single nucleotide variant not provided [RCV000837748] Chr19:13316991 [GRCh38]
Chr19:13427805 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1555+162G>A single nucleotide variant not provided [RCV000837749] Chr19:13316950 [GRCh38]
Chr19:13427764 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1555+183A>C single nucleotide variant not provided [RCV000837750] Chr19:13316929 [GRCh38]
Chr19:13427743 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1556-93T>A single nucleotide variant not provided [RCV000837751] Chr19:13312874 [GRCh38]
Chr19:13423688 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2783C>T (p.Pro928Leu) single nucleotide variant Episodic ataxia type 2 [RCV000797425]|Inborn genetic diseases [RCV002537045]|not provided [RCV002508258] Chr19:13298850 [GRCh38]
Chr19:13409664 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5940+185G>A single nucleotide variant not provided [RCV000837774] Chr19:13214048 [GRCh38]
Chr19:13324862 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4443G>A (p.Gly1481=) single nucleotide variant Episodic ataxia type 2 [RCV001487198]|not provided [RCV000980255] Chr19:13257497 [GRCh38]
Chr19:13368311 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6173G>C (p.Ser2058Thr) single nucleotide variant Episodic ataxia type 2 [RCV000799031] Chr19:13212400 [GRCh38]
Chr19:13323214 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6514G>A (p.Asp2172Asn) single nucleotide variant Episodic ataxia type 2 [RCV000799486]|not provided [RCV001595041] Chr19:13209324 [GRCh38]
Chr19:13320138 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1261C>T (p.Arg421Trp) single nucleotide variant Episodic ataxia type 2 [RCV000800471]|not provided [RCV003489885] Chr19:13330328 [GRCh38]
Chr19:13441142 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1199A>T (p.Glu400Val) single nucleotide variant Episodic ataxia type 2 [RCV000844936] Chr19:13332925 [GRCh38]
Chr19:13443739 [GRCh37]
Chr19:19p13.13		 not provided
NM_001127222.2(CACNA1A):c.1198+318G>A single nucleotide variant not provided [RCV000826804] Chr19:13334060 [GRCh38]
Chr19:13444874 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.539+152C>A single nucleotide variant not provided [RCV000829523] Chr19:13452724 [GRCh38]
Chr19:13563538 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5249+7A>C single nucleotide variant Episodic ataxia type 2 [RCV001502770] Chr19:13234914 [GRCh38]
Chr19:13345728 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2895G>A (p.Gly965=) single nucleotide variant Episodic ataxia type 2 [RCV001500158] Chr19:13298738 [GRCh38]
Chr19:13409552 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5921A>C (p.Gln1974Pro) single nucleotide variant CACNA1A-Related Disorder [RCV000844980] Chr19:13214252 [GRCh38]
Chr19:13325066 [GRCh37]
Chr19:19p13.13		 not provided
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=) single nucleotide variant Episodic ataxia type 2 [RCV001523752]|Inborn genetic diseases [RCV002363438]|not provided [RCV000940459] Chr19:13208867 [GRCh38]
Chr19:13319681 [GRCh37]
Chr19:19p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127222.2(CACNA1A):c.1247_1248dup (p.Phe417fs) duplication Episodic ataxia type 2 [RCV000802717] Chr19:13332875..13332876 [GRCh38]
Chr19:13443689..13443690 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1082+300C>T single nucleotide variant not provided [RCV000831866] Chr19:13335506 [GRCh38]
Chr19:13446320 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=) single nucleotide variant Episodic ataxia type 2 [RCV001372792]|not provided [RCV000841634] Chr19:13214329 [GRCh38]
Chr19:13325143 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.4440C>T (p.Pro1480=) single nucleotide variant Episodic ataxia type 2 [RCV001417035]|not provided [RCV000835489] Chr19:13257500 [GRCh38]
Chr19:13368314 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001727802]|Episodic ataxia type 2 [RCV000805379]|not provided [RCV000991679] Chr19:13371727 [GRCh38]
Chr19:13482541 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4618G>A (p.Ala1540Thr) single nucleotide variant Episodic ataxia type 2 [RCV000805790] Chr19:13255232 [GRCh38]
Chr19:13366046 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5401-10G>A single nucleotide variant Episodic ataxia type 2 [RCV001087121]|not provided [RCV000916020] Chr19:13230219 [GRCh38]
Chr19:13341033 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3989+206del deletion not provided [RCV000839796] Chr19:13275644 [GRCh38]
Chr19:13386458 [GRCh37]
Chr19:19p13.13		 benign
NC_000019.10:g.(?_13275830)_(13277148_?)del deletion Episodic ataxia type 2 [RCV000808639] Chr19:13275830..13277148 [GRCh38]
Chr19:13386644..13387962 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6714_6719dup (p.2238AR[3]) duplication Episodic ataxia type 2 [RCV000809472]|not provided [RCV003442098] Chr19:13208816..13208817 [GRCh38]
Chr19:13319630..13319631 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5731+159G>T single nucleotide variant not provided [RCV000836134] Chr19:13224508 [GRCh38]
Chr19:13335322 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6417G>A (p.Ser2139=) single nucleotide variant not provided [RCV000996777] Chr19:13209421 [GRCh38]
Chr19:13320235 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.105C>T (p.Gly35=) single nucleotide variant Episodic ataxia type 2 [RCV002068730]|not provided [RCV000996803] Chr19:13506120 [GRCh38]
Chr19:13616934 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2451G>A (p.Thr817=) single nucleotide variant Episodic ataxia type 2 [RCV001448314]|not provided [RCV001092222] Chr19:13299182 [GRCh38]
Chr19:13409996 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3497C>T (p.Thr1166Ile) single nucleotide variant Episodic ataxia type 2 [RCV003769023]|not provided [RCV001092217] Chr19:13286559 [GRCh38]
Chr19:13397373 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3247G>C (p.Gly1083Arg) single nucleotide variant not provided [RCV001092219] Chr19:13286809 [GRCh38]
Chr19:13397623 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2606G>C (p.Arg869Pro) single nucleotide variant not provided [RCV001092220] Chr19:13299027 [GRCh38]
Chr19:13409841 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6740G>A (p.Arg2247His) single nucleotide variant Episodic ataxia type 2 [RCV001869395]|not provided [RCV000996771] Chr19:13208796 [GRCh38]
Chr19:13319610 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6060C>T (p.His2020=) single nucleotide variant Episodic ataxia type 2 [RCV002549951]|not provided [RCV000996778] Chr19:13212513 [GRCh38]
Chr19:13323327 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4764G>A (p.Gly1588=) single nucleotide variant not provided [RCV000996785] Chr19:13253093 [GRCh38]
Chr19:13363907 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg) single nucleotide variant Episodic ataxia type 2 [RCV003769357]|Migraine, familial hemiplegic, 1 [RCV001706714]|not provided [RCV000996800] Chr19:13365409 [GRCh38]
Chr19:13476223 [GRCh37]
Chr19:19p13.13		 pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.5342del (p.Cys1781fs) deletion not provided [RCV001008303] Chr19:13231768 [GRCh38]
Chr19:13342582 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4950+3662G>T single nucleotide variant not provided [RCV000993571] Chr19:13241520 [GRCh38]
Chr19:13352334 [GRCh37]
Chr19:19p13.13		 pathogenic
GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 copy number loss not provided [RCV000846538] Chr19:12354642..13424014 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001127222.2(CACNA1A):c.3123C>A (p.Gly1041=) single nucleotide variant Episodic ataxia type 2 [RCV000959699]|not provided [RCV001545175] Chr19:13286933 [GRCh38]
Chr19:13397747 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4045G>A (p.Val1349Met) single nucleotide variant Episodic ataxia type 2 [RCV000990166] Chr19:13262778 [GRCh38]
Chr19:13373592 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.471dup (p.Ala158fs) duplication Episodic ataxia type 2 [RCV003769415]|not provided [RCV001008862] Chr19:13452943..13452944 [GRCh38]
Chr19:13563757..13563758 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.6754G>A (p.Gly2252Ser) single nucleotide variant Episodic ataxia type 2 [RCV001371768]|not provided [RCV000996770] Chr19:13208782 [GRCh38]
Chr19:13319596 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5940+4C>T single nucleotide variant not provided [RCV000996780] Chr19:13214229 [GRCh38]
Chr19:13325043 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5476del (p.His1826fs) deletion not provided [RCV000996782] Chr19:13230134 [GRCh38]
Chr19:13340948 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter) single nucleotide variant Episodic ataxia type 2 [RCV001029965]|Episodic ataxia type 2 [RCV002549952]|not provided [RCV000996790] Chr19:13298653 [GRCh38]
Chr19:13409467 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.1060C>G (p.Leu354Val) single nucleotide variant not provided [RCV000996796] Chr19:13335828 [GRCh38]
Chr19:13446642 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6313G>A (p.Gly2105Ser) single nucleotide variant Episodic ataxia type 2 [RCV001044663] Chr19:13210643 [GRCh38]
Chr19:13321457 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4694dup (p.Pro1566fs) duplication not provided [RCV001009088] Chr19:13255155..13255156 [GRCh38]
Chr19:13365969..13365970 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4684G>C (p.Val1562Leu) single nucleotide variant Episodic ataxia type 2 [RCV001214065]|not provided [RCV002511056] Chr19:13255166 [GRCh38]
Chr19:13365980 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.979-69_1082+70del deletion Episodic ataxia type 2 [RCV001250732] Chr19:13335736..13335978 [GRCh38]
Chr19:13446550..13446792 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001809987]|not provided [RCV001171940] Chr19:13207434 [GRCh38]
Chr19:13318248 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile) single nucleotide variant Episodic ataxia type 2 [RCV002560212]|Migraine, familial hemiplegic, 1 [RCV001195943]|not provided [RCV003313187] Chr19:13275938 [GRCh38]
Chr19:13386752 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1940C>T (p.Pro647Leu) single nucleotide variant Episodic ataxia type 2 [RCV001246585] Chr19:13307828 [GRCh38]
Chr19:13418642 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.399+189G>A single nucleotide variant not provided [RCV001544705] Chr19:13454918 [GRCh38]
Chr19:13565732 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2882A>C (p.His961Pro) single nucleotide variant Episodic ataxia type 2 [RCV001057600]|not provided [RCV000991666] Chr19:13298751 [GRCh38]
Chr19:13409565 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3071G>A (p.Arg1024Gln) single nucleotide variant Episodic ataxia type 2 [RCV002549764]|not provided [RCV000991668] Chr19:13298562 [GRCh38]
Chr19:13409376 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5464A>G (p.Ile1822Val) single nucleotide variant not provided [RCV000991677] Chr19:13230146 [GRCh38]
Chr19:13340960 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2304G>C (p.Lys768Asn) single nucleotide variant Episodic ataxia type 2 [RCV001236844] Chr19:13299329 [GRCh38]
Chr19:13410143 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4866+6T>A single nucleotide variant Episodic ataxia type 2 [RCV001219980] Chr19:13252985 [GRCh38]
Chr19:13363799 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1978_1980del (p.Val660del) deletion Episodic ataxia type 2 [RCV001248379] Chr19:13307788..13307790 [GRCh38]
Chr19:13418602..13418604 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2118T>G (p.Asn706Lys) single nucleotide variant Episodic ataxia type 2 [RCV001225687] Chr19:13303600 [GRCh38]
Chr19:13414414 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4874T>G (p.Phe1625Cys) single nucleotide variant Episodic ataxia type 2 [RCV001226777]|not provided [RCV003482347] Chr19:13245258 [GRCh38]
Chr19:13356072 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2959C>T (p.Arg987Trp) single nucleotide variant Episodic ataxia type 2 [RCV001224107]|not provided [RCV001773507] Chr19:13298674 [GRCh38]
Chr19:13409488 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6220G>A (p.Gly2074Ser) single nucleotide variant Episodic ataxia type 2 [RCV001237539]|not provided [RCV001555715] Chr19:13212186 [GRCh38]
Chr19:13323000 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6401G>A (p.Arg2134His) single nucleotide variant Episodic ataxia type 2 [RCV001203175] Chr19:13209437 [GRCh38]
Chr19:13320251 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6079A>G (p.Ser2027Gly) single nucleotide variant Episodic ataxia type 2 [RCV001203177] Chr19:13212494 [GRCh38]
Chr19:13323308 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5453G>A (p.Arg1818Gln) single nucleotide variant Episodic ataxia type 2 [RCV001209555] Chr19:13230157 [GRCh38]
Chr19:13340971 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.773A>C (p.Glu258Ala) single nucleotide variant Episodic ataxia type 2 [RCV001242851] Chr19:13365328 [GRCh38]
Chr19:13476142 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4758C>A (p.Phe1586Leu) single nucleotide variant Episodic ataxia type 2 [RCV001220447] Chr19:13253099 [GRCh38]
Chr19:13363913 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5018A>G (p.Gln1673Arg) single nucleotide variant Episodic ataxia type 2 [RCV001209615] Chr19:13235663 [GRCh38]
Chr19:13346477 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3046G>A (p.Asp1016Asn) single nucleotide variant Episodic ataxia type 2 [RCV001221107]|not provided [RCV002509633] Chr19:13298587 [GRCh38]
Chr19:13409401 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1189C>T single nucleotide variant Episodic ataxia type 2 [RCV001220874] Chr19:13228716 [GRCh38]
Chr19:13339530 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3823G>C (p.Val1275Leu) single nucleotide variant Episodic ataxia type 2 [RCV001209790] Chr19:13277128 [GRCh38]
Chr19:13387942 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1189T>G (p.Ser397Ala) single nucleotide variant Episodic ataxia type 2 [RCV001243204]|not specified [RCV003987811] Chr19:13334387 [GRCh38]
Chr19:13445201 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6240C>G (p.His2080Gln) single nucleotide variant Episodic ataxia type 2 [RCV001206933] Chr19:13212166 [GRCh38]
Chr19:13322980 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2600G>C (p.Arg867Pro) single nucleotide variant Episodic ataxia type 2 [RCV001206934]|Inborn genetic diseases [RCV002436797] Chr19:13299033 [GRCh38]
Chr19:13409847 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2141A>G (p.Asp714Gly) single nucleotide variant Episodic ataxia type 2 [RCV001221550] Chr19:13303577 [GRCh38]
Chr19:13414391 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6549G>A (p.Met2183Ile) single nucleotide variant Episodic ataxia type 2 [RCV001223876]|Inborn genetic diseases [RCV002563046]|not provided [RCV002256709] Chr19:13208987 [GRCh38]
Chr19:13319801 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6463C>T (p.Arg2155Cys) single nucleotide variant Episodic ataxia type 2 [RCV001218332] Chr19:13209375 [GRCh38]
Chr19:13320189 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2245A>G (p.Ser749Gly) single nucleotide variant Episodic ataxia type 2 [RCV001221772] Chr19:13300584 [GRCh38]
Chr19:13411398 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter) single nucleotide variant Episodic ataxia type 2 [RCV001223292]|Episodic ataxia type 2 [RCV002471049] Chr19:13317129 [GRCh38]
Chr19:13427943 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3574G>A (p.Asp1192Asn) single nucleotide variant Episodic ataxia type 2 [RCV001209978] Chr19:13285186 [GRCh38]
Chr19:13396000 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5529-1268C>A single nucleotide variant Episodic ataxia type 2 [RCV001226545]|not provided [RCV001819923] Chr19:13228795 [GRCh38]
Chr19:13339609 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2123T>C (p.Phe708Ser) single nucleotide variant Episodic ataxia type 2 [RCV001214924] Chr19:13303595 [GRCh38]
Chr19:13414409 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.761C>A (p.Thr254Asn) single nucleotide variant Episodic ataxia type 2 [RCV001214950]|not provided [RCV001786452] Chr19:13365340 [GRCh38]
Chr19:13476154 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3529C>T (p.Pro1177Ser) single nucleotide variant Episodic ataxia type 2 [RCV001221664]|not provided [RCV001751426] Chr19:13286527 [GRCh38]
Chr19:13397341 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2987C>G (p.Pro996Arg) single nucleotide variant Episodic ataxia type 2 [RCV001226033] Chr19:13298646 [GRCh38]
Chr19:13409460 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.35A>G (p.Tyr12Cys) single nucleotide variant Episodic ataxia type 2 [RCV001229380]|not provided [RCV003145434]|not specified [RCV003490142] Chr19:13506190 [GRCh38]
Chr19:13617004 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1555+3_1555+6del deletion Developmental and epileptic encephalopathy, 42 [RCV002290631]|Migraine, familial hemiplegic, 1 [RCV001197887]|not provided [RCV001773449] Chr19:13317106..13317109 [GRCh38]
Chr19:13427920..13427923 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3122G>T (p.Gly1041Val) single nucleotide variant Episodic ataxia type 2 [RCV001247951]|Inborn genetic diseases [RCV002322162] Chr19:13286934 [GRCh38]
Chr19:13397748 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.7233G>C (p.Arg2411=) single nucleotide variant not provided [RCV001200619] Chr19:13207601 [GRCh38]
Chr19:13318415 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2687C>T (p.Pro896Leu) single nucleotide variant Episodic ataxia type 2 [RCV001213156] Chr19:13298946 [GRCh38]
Chr19:13409760 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro) single nucleotide variant Episodic ataxia type 2 [RCV003770222]|Migraine, familial hemiplegic, 1 [RCV001198989] Chr19:13334410 [GRCh38]
Chr19:13445224 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3523C>T (p.Pro1175Ser) single nucleotide variant not provided [RCV003159506] Chr19:13286533 [GRCh38]
Chr19:13397347 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5995G>C (p.Gly1999Arg) single nucleotide variant Inborn genetic diseases [RCV003268963]|not provided [RCV003420643] Chr19:13212686 [GRCh38]
Chr19:13323500 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1025C>T (p.Pro342Leu) single nucleotide variant not provided [RCV003239169] Chr19:13335863 [GRCh38]
Chr19:13446677 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.155T>C (p.Met52Thr) single nucleotide variant not provided [RCV003318195] Chr19:13506070 [GRCh38]
Chr19:13616884 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val) single nucleotide variant Episodic ataxia type 2 [RCV000990168]|Episodic ataxia type 2 [RCV001368840]|Inborn genetic diseases [RCV001267553] Chr19:13303587 [GRCh38]
Chr19:13414401 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.2105-2A>G single nucleotide variant Episodic ataxia type 2 [RCV003769308]|not provided [RCV000991663] Chr19:13303615 [GRCh38]
Chr19:13414429 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3553+5G>C single nucleotide variant not provided [RCV000991672] Chr19:13286498 [GRCh38]
Chr19:13397312 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7348C>T (p.Arg2450Cys) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003141912]|not provided [RCV000991684] Chr19:13207486 [GRCh38]
Chr19:13318300 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4591-2A>G single nucleotide variant Episodic ataxia type 2 [RCV000995711] Chr19:13255261 [GRCh38]
Chr19:13366075 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV001198748]|not provided [RCV003145371] Chr19:13208889 [GRCh38]
Chr19:13319703 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5734G>A (p.Gly1912Arg) single nucleotide variant Episodic ataxia type 2 [RCV001212335] Chr19:13214606 [GRCh38]
Chr19:13325420 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.10:g.(?_13298534)_(13300666_?)del deletion Episodic ataxia type 2 [RCV001032620] Chr19:13409348..13411480 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV001197947] Chr19:13285129 [GRCh38]
Chr19:13395943 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2950C>T (p.Arg984Trp) single nucleotide variant Autism spectrum disorder [RCV003127274] Chr19:13298683 [GRCh38]
Chr19:13409497 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3086G>A (p.Arg1029Lys) single nucleotide variant not provided [RCV003127006] Chr19:13298547 [GRCh38]
Chr19:13409361 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_13418576)_(13419362_?)del deletion Episodic ataxia type 2 [RCV003105445] Chr19:13418576..13419362 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.9:g.(?_13339493)_(13341043_?)del deletion Episodic ataxia type 2 [RCV003105447] Chr19:13339493..13341043 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001127222.2(CACNA1A):c.816T>A (p.Cys272Ter) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV003234838] Chr19:13359768 [GRCh38]
Chr19:13470582 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2092C>T (p.Leu698Phe) single nucleotide variant not provided [RCV003234446] Chr19:13303779 [GRCh38]
Chr19:13414593 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_13355976)_(13356099_?)del deletion Episodic ataxia type 2 [RCV003105442] Chr19:13355976..13356099 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(?_13342504)_(13342694_?)del deletion Episodic ataxia type 2 [RCV003105443] Chr19:13342504..13342694 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.9:g.(?_13476111)_(13476303_?)del deletion Episodic ataxia type 2 [RCV003105444] Chr19:13476111..13476303 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.9:g.(?_13339493)_(13373667_?)del deletion Episodic ataxia type 2 [RCV003105446] Chr19:13339493..13373667 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.9:g.(?_13135448)_(13419362_?)dup duplication Episodic ataxia type 2 [RCV003105448]|Marshall-Smith syndrome [RCV003105449] Chr19:13135448..13419362 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(?_13372244)_(13373667_?)dup duplication Episodic ataxia type 2 [RCV003105450] Chr19:13372244..13373667 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(?_13318860)_(13363935_?)dup duplication Episodic ataxia type 2 [RCV003105451] Chr19:13318860..13363935 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001127222.2(CACNA1A):c.5936A>C (p.Glu1979Ala) single nucleotide variant Episodic ataxia type 2 [RCV003233244] Chr19:13214237 [GRCh38]
Chr19:13325051 [GRCh37]
Chr19:19p13.13		 not provided
NM_001127222.2(CACNA1A):c.2098G>A (p.Gly700Arg) single nucleotide variant Episodic ataxia type 2 [RCV003233022] Chr19:13303773 [GRCh38]
Chr19:13414587 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3282A>G (p.Pro1094=) single nucleotide variant not provided [RCV001663244] Chr19:13286774 [GRCh38]
Chr19:13397588 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6303+289G>A single nucleotide variant not provided [RCV001581082] Chr19:13211814 [GRCh38]
Chr19:13322628 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5625+65T>C single nucleotide variant not provided [RCV001550049] Chr19:13227366 [GRCh38]
Chr19:13338180 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2712C>T (p.His904=) single nucleotide variant Episodic ataxia type 2 [RCV002073109]|not specified [RCV001665495] Chr19:13298921 [GRCh38]
Chr19:13409735 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6781-229T>G single nucleotide variant not provided [RCV001571723] Chr19:13208282 [GRCh38]
Chr19:13319096 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6051-1G>A single nucleotide variant not provided [RCV001581445] Chr19:13212523 [GRCh38]
Chr19:13323337 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.4388+221_4388+233del deletion not provided [RCV001643257] Chr19:13259331..13259343 [GRCh38]
Chr19:13370145..13370157 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6526+124G>C single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554413]|Episodic ataxia type 2 [RCV001554414]|Migraine, familial hemiplegic, 1 [RCV001554415]|Spinocerebellar ataxia type 6 [RCV001554416]|not provided [RCV001713048] Chr19:13209188 [GRCh38]
Chr19:13320002 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6228C>T (p.Ser2076=) single nucleotide variant Episodic ataxia type 2 [RCV002072043]|not provided [RCV001551060] Chr19:13212178 [GRCh38]
Chr19:13322992 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4755+181T>G single nucleotide variant not provided [RCV001546642] Chr19:13254914 [GRCh38]
Chr19:13365728 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.631+45C>T single nucleotide variant not provided [RCV001570289] Chr19:13371643 [GRCh38]
Chr19:13482457 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5941-109GT[13] microsatellite not provided [RCV001578039] Chr19:13212827..13212828 [GRCh38]
Chr19:13323641..13323642 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2930C>T (p.Ala977Val) single nucleotide variant Episodic ataxia type 2 [RCV001866025]|not provided [RCV001570940] Chr19:13298703 [GRCh38]
Chr19:13409517 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5250-101C>T single nucleotide variant not provided [RCV001575065] Chr19:13231961 [GRCh38]
Chr19:13342775 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1555+46C>T single nucleotide variant not provided [RCV001552990] Chr19:13317066 [GRCh38]
Chr19:13427880 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.832G>T (p.Ala278Ser) single nucleotide variant not provided [RCV001559919] Chr19:13359752 [GRCh38]
Chr19:13470566 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5731+342del deletion not provided [RCV001549657] Chr19:13224325 [GRCh38]
Chr19:13335139 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-1078C>A single nucleotide variant not provided [RCV001659511] Chr19:13228605 [GRCh38]
Chr19:13339419 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6506G>T (p.Arg2169Leu) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001542272] Chr19:13209332 [GRCh38]
Chr19:13320146 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu) single nucleotide variant Spinocerebellar ataxia type 6 [RCV001542500] Chr19:13452896 [GRCh38]
Chr19:13563710 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2395C>A (p.Pro799Thr) single nucleotide variant not provided [RCV001549933] Chr19:13299238 [GRCh38]
Chr19:13410052 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4755+46G>A single nucleotide variant not provided [RCV001636025] Chr19:13255049 [GRCh38]
Chr19:13365863 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6978G>A (p.Ala2326=) single nucleotide variant not provided [RCV001658900] Chr19:13207856 [GRCh38]
Chr19:13318670 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1082+182G>A single nucleotide variant not provided [RCV001537401] Chr19:13335624 [GRCh38]
Chr19:13446438 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6339+314T>C single nucleotide variant not provided [RCV001681129] Chr19:13210303 [GRCh38]
Chr19:13321117 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6654C>T (p.His2218=) single nucleotide variant not provided [RCV001555862] Chr19:13208882 [GRCh38]
Chr19:13319696 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3554-90G>A single nucleotide variant not provided [RCV001717335] Chr19:13285296 [GRCh38]
Chr19:13396110 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1402T>C (p.Phe468Leu) single nucleotide variant Episodic ataxia type 2 [RCV003097672]|not provided [RCV002284691] Chr19:13317265 [GRCh38]
Chr19:13428079 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6303+50G>A single nucleotide variant not provided [RCV001556909] Chr19:13212053 [GRCh38]
Chr19:13322867 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3692+31G>T single nucleotide variant not provided [RCV001562437] Chr19:13285037 [GRCh38]
Chr19:13395851 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4590+33A>G single nucleotide variant not provided [RCV001562447] Chr19:13257317 [GRCh38]
Chr19:13368131 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1668+160T>C single nucleotide variant not provided [RCV001669562] Chr19:13312509 [GRCh38]
Chr19:13423323 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5098A>G (p.Met1700Val) single nucleotide variant not provided [RCV002284797] Chr19:13235244 [GRCh38]
Chr19:13346058 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5249+29T>C single nucleotide variant not provided [RCV001642086] Chr19:13234892 [GRCh38]
Chr19:13345706 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5626-180C>T single nucleotide variant not provided [RCV001577637] Chr19:13224952 [GRCh38]
Chr19:13335766 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1987-72T>A single nucleotide variant not provided [RCV001562553] Chr19:13303956 [GRCh38]
Chr19:13414770 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6781-148TCC[5] microsatellite not provided [RCV001592259] Chr19:13208181..13208186 [GRCh38]
Chr19:13318995..13319000 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4388+221_4388+235del deletion not provided [RCV001587069] Chr19:13259329..13259343 [GRCh38]
Chr19:13370143..13370157 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.7328C>T (p.Ala2443Val) single nucleotide variant Episodic ataxia type 2 [RCV002502004]|not specified [RCV001663654] Chr19:13207506 [GRCh38]
Chr19:13318320 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.5941-109GT[10] microsatellite not provided [RCV001642115] Chr19:13212828..13212829 [GRCh38]
Chr19:13323642..13323643 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4020G>T (p.Thr1340=) single nucleotide variant not provided [RCV001590240] Chr19:13262803 [GRCh38]
Chr19:13373617 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu) single nucleotide variant Episodic ataxia type 2 [RCV002501930]|not provided [RCV001575338] Chr19:13207572 [GRCh38]
Chr19:13318386 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3990-36C>G single nucleotide variant not provided [RCV001558130] Chr19:13262869 [GRCh38]
Chr19:13373683 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.632-211dup duplication not provided [RCV001718200] Chr19:13365670..13365671 [GRCh38]
Chr19:13476484..13476485 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6303+38C>T single nucleotide variant not provided [RCV001714761] Chr19:13212065 [GRCh38]
Chr19:13322879 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1083-68_1083-67del deletion not provided [RCV001719317] Chr19:13334560..13334561 [GRCh38]
Chr19:13445374..13445375 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.839C>T (p.Thr280Ile) single nucleotide variant Episodic ataxia type 2 [RCV002538538]|not provided [RCV001665308] Chr19:13359745 [GRCh38]
Chr19:13470559 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3000G>A (p.Glu1000=) single nucleotide variant not provided [RCV001700946] Chr19:13298633 [GRCh38]
Chr19:13409447 [GRCh37]
Chr19:19p13.13		 likely benign
NC_000019.10:g.13506621del deletion not provided [RCV001587503] Chr19:13506609 [GRCh38]
Chr19:13617423 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.655A>G (p.Ile219Val) single nucleotide variant Disorder of sexual differentiation [RCV001568320] Chr19:13365446 [GRCh38]
Chr19:13476260 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2504_2506del (p.Thr835del) deletion not provided [RCV001570659] Chr19:13299127..13299129 [GRCh38]
Chr19:13409941..13409943 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5528+1019del deletion not provided [RCV001719497] Chr19:13229063 [GRCh38]
Chr19:13339877 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001839050]|Episodic ataxia type 2 [RCV002573226]|not provided [RCV001574150] Chr19:13298820 [GRCh38]
Chr19:13409634 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2954C>T (p.Pro985Leu) single nucleotide variant not provided [RCV001559370] Chr19:13298679 [GRCh38]
Chr19:13409493 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5401-35C>T single nucleotide variant not provided [RCV001574167] Chr19:13230244 [GRCh38]
Chr19:13341058 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4388+221_4388+232del deletion not provided [RCV001590639] Chr19:13259332..13259343 [GRCh38]
Chr19:13370146..13370157 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4756-238G>A single nucleotide variant not provided [RCV001617536] Chr19:13253339 [GRCh38]
Chr19:13364153 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6051-9C>G single nucleotide variant not provided [RCV001767154] Chr19:13212531 [GRCh38]
Chr19:13323345 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5134-4A>G single nucleotide variant Episodic ataxia type 2 [RCV001087831]|not provided [RCV000918668] Chr19:13235040 [GRCh38]
Chr19:13345854 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1262G>A (p.Arg421Gln) single nucleotide variant Episodic ataxia type 2 [RCV000908328]|not provided [RCV003145234] Chr19:13330327 [GRCh38]
Chr19:13441141 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4404G>A (p.Ser1468=) single nucleotide variant Episodic ataxia type 2 [RCV001512837]|not provided [RCV000940357] Chr19:13257536 [GRCh38]
Chr19:13368350 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2328G>A (p.Gln776=) single nucleotide variant Episodic ataxia type 2 [RCV000905134] Chr19:13299305 [GRCh38]
Chr19:13410119 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.63C>A (p.Ala21=) single nucleotide variant Episodic ataxia type 2 [RCV000930915]|Inborn genetic diseases [RCV002363394] Chr19:13506162 [GRCh38]
Chr19:13616976 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3933C>G (p.Leu1311=) single nucleotide variant CACNA1A-related disorder [RCV003985467]|Episodic ataxia type 2 [RCV000954350]|not provided [RCV001726383] Chr19:13275906 [GRCh38]
Chr19:13386720 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-1262G>T single nucleotide variant Episodic ataxia type 2 [RCV000941228] Chr19:13228789 [GRCh38]
Chr19:13339603 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3090-6C>T single nucleotide variant Episodic ataxia type 2 [RCV000941236] Chr19:13286972 [GRCh38]
Chr19:13397786 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3989+10C>T single nucleotide variant Episodic ataxia type 2 [RCV001498488] Chr19:13275840 [GRCh38]
Chr19:13386654 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3426T>C (p.Asn1142=) single nucleotide variant Episodic ataxia type 2 [RCV001415388] Chr19:13286630 [GRCh38]
Chr19:13397444 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4362C>T (p.Thr1454=) single nucleotide variant Episodic ataxia type 2 [RCV000886764]|not provided [RCV001644858] Chr19:13259590 [GRCh38]
Chr19:13370404 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.3639C>T (p.Gly1213=) single nucleotide variant Episodic ataxia type 2 [RCV001393611] Chr19:13285121 [GRCh38]
Chr19:13395935 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.7488A>G (p.Glu2496=) single nucleotide variant not provided [RCV000996769] Chr19:13207346 [GRCh38]
Chr19:13318160 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6641A>G (p.His2214Arg) single nucleotide variant Episodic ataxia type 2 [RCV003769355]|not provided [RCV000996774] Chr19:13208895 [GRCh38]
Chr19:13319709 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly) single nucleotide variant EEG with focal epileptiform discharges [RCV001537639]|Episodic ataxia type 2 [RCV001057739]|not provided [RCV000996776] Chr19:13209372 [GRCh38]
Chr19:13320186 [GRCh37]
Chr19:19p13.13		 benign|likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001823176]|Episodic ataxia type 2 [RCV001038105]|Inborn genetic diseases [RCV002354907]|not provided [RCV000996781] Chr19:13214530 [GRCh38]
Chr19:13325344 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2584G>A (p.Ala862Thr) single nucleotide variant not provided [RCV000996791] Chr19:13299049 [GRCh38]
Chr19:13409863 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter) single nucleotide variant Episodic ataxia type 2 [RCV001050623]|not provided [RCV000996792] Chr19:13299082 [GRCh38]
Chr19:13409896 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.1844G>A (p.Ser615Asn) single nucleotide variant not provided [RCV000996794] Chr19:13308189 [GRCh38]
Chr19:13419003 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.642C>T (p.Val214=) single nucleotide variant Episodic ataxia type 2 [RCV002549953]|not provided [RCV000996801] Chr19:13365459 [GRCh38]
Chr19:13476273 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3771C>T (p.Ser1257=) single nucleotide variant Episodic ataxia type 2 [RCV001419870] Chr19:13283318 [GRCh38]
Chr19:13394132 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4338G>A (p.Leu1446=) single nucleotide variant Episodic ataxia type 2 [RCV000887488]|not provided [RCV001531293] Chr19:13259614 [GRCh38]
Chr19:13370428 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.632-5C>T single nucleotide variant Episodic ataxia type 2 [RCV001416686] Chr19:13365474 [GRCh38]
Chr19:13476288 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2919G>A (p.Ala973=) single nucleotide variant Episodic ataxia type 2 [RCV001436356] Chr19:13298714 [GRCh38]
Chr19:13409528 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3246C>T (p.His1082=) single nucleotide variant CACNA1A-related disorder [RCV003985463]|Episodic ataxia type 2 [RCV001413144] Chr19:13286810 [GRCh38]
Chr19:13397624 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2938C>G (p.Arg980Gly) single nucleotide variant not provided [RCV001760685] Chr19:13298695 [GRCh38]
Chr19:13409509 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6526+10C>A single nucleotide variant Episodic ataxia type 2 [RCV001484269] Chr19:13209302 [GRCh38]
Chr19:13320116 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3117G>A (p.Val1039=) single nucleotide variant Episodic ataxia type 2 [RCV001445802] Chr19:13286939 [GRCh38]
Chr19:13397753 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.687C>T (p.Ile229=) single nucleotide variant Episodic ataxia type 2 [RCV000918623]|not provided [RCV001289297] Chr19:13365414 [GRCh38]
Chr19:13476228 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3015C>T (p.His1005=) single nucleotide variant Episodic ataxia type 2 [RCV000940669] Chr19:13298618 [GRCh38]
Chr19:13409432 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5758G>A (p.Ala1920Thr) single nucleotide variant Episodic ataxia type 2 [RCV001049020] Chr19:13214582 [GRCh38]
Chr19:13325396 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6340A>T (p.Thr2114Ser) single nucleotide variant Episodic ataxia type 2 [RCV001235537] Chr19:13209498 [GRCh38]
Chr19:13320312 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6758G>A (p.Arg2253Gln) single nucleotide variant Episodic ataxia type 2 [RCV001225775] Chr19:13208778 [GRCh38]
Chr19:13319592 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.35A>T (p.Tyr12Phe) single nucleotide variant Episodic ataxia type 2 [RCV003771814]|not provided [RCV001665178] Chr19:13506190 [GRCh38]
Chr19:13617004 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4089+18T>G single nucleotide variant Migraine, familial hemiplegic, 1 [RCV001198987] Chr19:13262716 [GRCh38]
Chr19:13373530 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2803C>T (p.Arg935Trp) single nucleotide variant Episodic ataxia type 2 [RCV001034880] Chr19:13298830 [GRCh38]
Chr19:13409644 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1180G>A single nucleotide variant Episodic ataxia type 2 [RCV001242226] Chr19:13228707 [GRCh38]
Chr19:13339521 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.50C>G (p.Ser17Cys) single nucleotide variant Episodic ataxia type 2 [RCV001244508]|not provided [RCV001586086] Chr19:13506175 [GRCh38]
Chr19:13616989 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5021G>A (p.Gly1674Asp) single nucleotide variant Episodic ataxia type 2 [RCV003771815]|not provided [RCV001665290] Chr19:13235660 [GRCh38]
Chr19:13346474 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5072T>A (p.Leu1691Gln) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001175164] Chr19:13235270 [GRCh38]
Chr19:13346084 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.4199G>C (p.Gly1400Ala) single nucleotide variant Episodic ataxia type 2 [RCV001218850] Chr19:13261501 [GRCh38]
Chr19:13372315 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4389-1G>C single nucleotide variant Episodic ataxia type 2 [RCV001226222] Chr19:13257552 [GRCh38]
Chr19:13368366 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4843A>G (p.Lys1615Glu) single nucleotide variant Episodic ataxia type 2 [RCV001219127] Chr19:13253014 [GRCh38]
Chr19:13363828 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3590_3593del (p.Lys1197fs) deletion Episodic ataxia type 2 [RCV001244748]|Inborn genetic diseases [RCV002339678] Chr19:13285167..13285170 [GRCh38]
Chr19:13395981..13395984 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1441C>T (p.Arg481Cys) single nucleotide variant Episodic ataxia type 2 [RCV001244783] Chr19:13317226 [GRCh38]
Chr19:13428040 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4683C>G (p.Phe1561Leu) single nucleotide variant Episodic ataxia type 2 [RCV001233888] Chr19:13255167 [GRCh38]
Chr19:13365981 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3410C>T (p.Pro1137Leu) single nucleotide variant Episodic ataxia type 2 [RCV001044375]|not provided [RCV003405242] Chr19:13286646 [GRCh38]
Chr19:13397460 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2704G>T (p.Asp902Tyr) single nucleotide variant Episodic ataxia type 2 [RCV001051662] Chr19:13298929 [GRCh38]
Chr19:13409743 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.589G>A (p.Val197Ile) single nucleotide variant Episodic ataxia type 2 [RCV001220762]|not provided [RCV001544608] Chr19:13371730 [GRCh38]
Chr19:13482544 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4249C>T (p.Arg1417Ter) single nucleotide variant Episodic ataxia type 2 [RCV001069607]|not provided [RCV001664659] Chr19:13261451 [GRCh38]
Chr19:13372265 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6083C>G (p.Pro2028Arg) single nucleotide variant Episodic ataxia type 2 [RCV001217609]|not provided [RCV001587237] Chr19:13212490 [GRCh38]
Chr19:13323304 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3406C>T (p.Pro1136Ser) single nucleotide variant Episodic ataxia type 2 [RCV001206684] Chr19:13286650 [GRCh38]
Chr19:13397464 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.678_679delinsCT (p.Leu226Phe) indel Episodic ataxia type 2 [RCV001221331] Chr19:13365422..13365423 [GRCh38]
Chr19:13476236..13476237 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1914-10_2172+10del deletion Episodic ataxia type 2 [RCV001229504] Chr19:13303536..13307864 [GRCh38]
Chr19:13414350..13418678 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4363G>A (p.Val1455Met) single nucleotide variant Episodic ataxia type 2 [RCV001217912] Chr19:13259589 [GRCh38]
Chr19:13370403 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.1585T>C (p.Phe529Leu) single nucleotide variant Episodic ataxia type 2 [RCV001227921] Chr19:13312752 [GRCh38]
Chr19:13423566 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5733A>G (p.Gly1911=) single nucleotide variant Episodic ataxia type 2 [RCV001402429] Chr19:13214607 [GRCh38]
Chr19:13325421 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5706A>G (p.Thr1902=) single nucleotide variant CACNA1A-related disorder [RCV003985462]|Episodic ataxia type 2 [RCV000935785] Chr19:13224692 [GRCh38]
Chr19:13335506 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4668C>T (p.Tyr1556=) single nucleotide variant Episodic ataxia type 2 [RCV001440853] Chr19:13255182 [GRCh38]
Chr19:13365996 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.924G>A (p.Val308=) single nucleotide variant Episodic ataxia type 2 [RCV001498044]|not provided [RCV000935937] Chr19:13359660 [GRCh38]
Chr19:13470474 [GRCh37]
Chr19:19p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.3883-5C>G single nucleotide variant Episodic ataxia type 2 [RCV000913464] Chr19:13275961 [GRCh38]
Chr19:13386775 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5937G>A (p.Glu1979=) single nucleotide variant Episodic ataxia type 2 [RCV001467602] Chr19:13214236 [GRCh38]
Chr19:13325050 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2922G>A (p.Glu974=) single nucleotide variant Episodic ataxia type 2 [RCV001431914] Chr19:13298711 [GRCh38]
Chr19:13409525 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.540-9T>G single nucleotide variant Episodic ataxia type 2 [RCV001460898] Chr19:13371788 [GRCh38]
Chr19:13482602 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4935C>T (p.Leu1645=) single nucleotide variant Episodic ataxia type 2 [RCV001434123] Chr19:13245197 [GRCh38]
Chr19:13356011 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1080A>C (p.Ser360=) single nucleotide variant Episodic ataxia type 2 [RCV001500978] Chr19:13335808 [GRCh38]
Chr19:13446622 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4891A>G (p.Ile1631Val) single nucleotide variant Episodic ataxia type 2 [RCV000935225]|Inborn genetic diseases [RCV004029619] Chr19:13245241 [GRCh38]
Chr19:13356055 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6630CCA[7] (p.His2218_His2219del) microsatellite Episodic ataxia type 2 [RCV002568182]|Inborn genetic diseases [RCV002368559]|not provided [RCV001530687] Chr19:13208880..13208885 [GRCh38]
Chr19:13319694..13319699 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2963G>A (p.Gly988Asp) single nucleotide variant Episodic ataxia type 2 [RCV002032584]|not provided [RCV001551158] Chr19:13298670 [GRCh38]
Chr19:13409484 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.185A>G (p.Tyr62Cys) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003233020]|Episodic ataxia type 2 [RCV003779849] Chr19:13506040 [GRCh38]
Chr19:13616854 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.6526+137A>G single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554409]|Episodic ataxia type 2 [RCV001554410]|Migraine, familial hemiplegic, 1 [RCV001554411]|Spinocerebellar ataxia type 6 [RCV001554412]|not provided [RCV001713047] Chr19:13209175 [GRCh38]
Chr19:13319989 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5941-109GT[16] microsatellite not provided [RCV001562939] Chr19:13212827..13212828 [GRCh38]
Chr19:13323641..13323642 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5625+69_5625+71del deletion not provided [RCV001570251] Chr19:13227360..13227362 [GRCh38]
Chr19:13338174..13338176 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3728G>A (p.Arg1243His) single nucleotide variant not provided [RCV003230012] Chr19:13283361 [GRCh38]
Chr19:13394175 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5696T>C (p.Leu1899Pro) single nucleotide variant not provided [RCV002464955] Chr19:13224702 [GRCh38]
Chr19:13335516 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6709C>T (p.Arg2237Trp) single nucleotide variant Episodic ataxia type 2 [RCV002573236]|not provided [RCV001575547] Chr19:13208827 [GRCh38]
Chr19:13319641 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2672T>G (p.Leu891Arg) single nucleotide variant not provided [RCV001563264] Chr19:13298961 [GRCh38]
Chr19:13409775 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.978+104G>A single nucleotide variant not provided [RCV001661147] Chr19:13359502 [GRCh38]
Chr19:13470316 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.979-3C>G single nucleotide variant Episodic ataxia type 2 [RCV002470181] Chr19:13335912 [GRCh38]
Chr19:13446726 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.684G>A (p.Gln228=) single nucleotide variant Episodic ataxia type 2 [RCV002573237]|not provided [RCV001575704] Chr19:13365417 [GRCh38]
Chr19:13476231 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3089+47_3089+49del microsatellite not provided [RCV001558488] Chr19:13298495..13298497 [GRCh38]
Chr19:13409309..13409311 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.540-30C>G single nucleotide variant not provided [RCV001717475] Chr19:13371809 [GRCh38]
Chr19:13482623 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3578del (p.Pro1193fs) deletion Episodic ataxia type 2 [RCV000990167] Chr19:13285182 [GRCh38]
Chr19:13395996 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1781del (p.Lys594fs) deletion not provided [RCV000991661] Chr19:13308416 [GRCh38]
Chr19:13419230 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=) single nucleotide variant Episodic ataxia type 2 [RCV001326079]|Inborn genetic diseases [RCV002416272]|not provided [RCV000991662] Chr19:13303876 [GRCh38]
Chr19:13414690 [GRCh37]
Chr19:19p13.13		 benign|likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5162A>G (p.Glu1721Gly) single nucleotide variant not provided [RCV000991675] Chr19:13235008 [GRCh38]
Chr19:13345822 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6103G>T (p.Ala2035Ser) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002466836] Chr19:13212470 [GRCh38]
Chr19:13323284 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.293+253C>T single nucleotide variant not provided [RCV001552276] Chr19:13505679 [GRCh38]
Chr19:13616493 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4866+310G>A single nucleotide variant not provided [RCV001552473] Chr19:13252681 [GRCh38]
Chr19:13363495 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4250G>T (p.Arg1417Leu) single nucleotide variant not specified [RCV002470011] Chr19:13261450 [GRCh38]
Chr19:13372264 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1231G>C (p.Gly411Arg) single nucleotide variant not provided [RCV003237000] Chr19:13332893 [GRCh38]
Chr19:13443707 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6189+28G>C single nucleotide variant not provided [RCV001559795] Chr19:13212356 [GRCh38]
Chr19:13323170 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5400+36C>G single nucleotide variant not provided [RCV001609360] Chr19:13231674 [GRCh38]
Chr19:13342488 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1706T>C (p.Val569Ala) single nucleotide variant Episodic ataxia type 2 [RCV002573340]|not provided [RCV001586775] Chr19:13308491 [GRCh38]
Chr19:13419305 [GRCh37]
Chr19:19p13.13		 uncertain significance
GRCh37/hg19 19p13.2(chr19:13418596-13419188)x1 copy number loss Episodic ataxia type 2 [RCV003233272] Chr19:13418596..13419188 [GRCh37]
Chr19:19p13.2		 not provided
NM_001127222.2(CACNA1A):c.2280-124T>C single nucleotide variant not provided [RCV001565600] Chr19:13299477 [GRCh38]
Chr19:13410291 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3823-156C>T single nucleotide variant not provided [RCV001568520] Chr19:13277284 [GRCh38]
Chr19:13388098 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3189G>A (p.Glu1063=) single nucleotide variant not provided [RCV001560683] Chr19:13286867 [GRCh38]
Chr19:13397681 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127221.1(CACNA1A):c.6309_6311delGAG microsatellite Episodic ataxia type 2 [RCV002568449]|not provided [RCV001568910] Chr19:13210648..13210650 [GRCh38]
Chr19:13321462..13321464 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4591-5C>T single nucleotide variant Episodic ataxia type 2 [RCV002072009]|Inborn genetic diseases [RCV002334592]|not provided [RCV001547201] Chr19:13255264 [GRCh38]
Chr19:13366078 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5944C>T (p.Arg1982Trp) single nucleotide variant Episodic ataxia type 2 [RCV003775498]|not provided [RCV002467272] Chr19:13212737 [GRCh38]
Chr19:13323551 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7109G>A (p.Arg2370Gln) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV002472261] Chr19:13207725 [GRCh38]
Chr19:13318539 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1083-68_1083-65del deletion not provided [RCV001676878] Chr19:13334558..13334561 [GRCh38]
Chr19:13445372..13445375 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1083-100A>C single nucleotide variant not provided [RCV001608219] Chr19:13334593 [GRCh38]
Chr19:13445407 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1256-213A>G single nucleotide variant not provided [RCV001621070] Chr19:13330546 [GRCh38]
Chr19:13441360 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3089+34C>T single nucleotide variant not provided [RCV001636556] Chr19:13298510 [GRCh38]
Chr19:13409324 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.632-111= single nucleotide variant not provided [RCV001674726] Chr19:13365580 [GRCh38]
Chr19:13476394 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2104+27G>A single nucleotide variant not provided [RCV001655465] Chr19:13303740 [GRCh38]
Chr19:13414554 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del) microsatellite Episodic ataxia type 2 [RCV002496042]|Spinocerebellar ataxia type 6 [RCV003994322]|not provided [RCV001723110] Chr19:13207859..13207861 [GRCh38]
Chr19:13318673..13318675 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1255+38G>A single nucleotide variant not provided [RCV001717514] Chr19:13332831 [GRCh38]
Chr19:13443645 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1551C>G (p.Phe517Leu) single nucleotide variant not provided [RCV001593923] Chr19:13317116 [GRCh38]
Chr19:13427930 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.-76GCG[9] microsatellite not provided [RCV001598050] Chr19:13506276..13506277 [GRCh38]
Chr19:13617090..13617091 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5731+330dup duplication not provided [RCV001719302] Chr19:13224324..13224325 [GRCh38]
Chr19:13335138..13335139 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2279+223dup duplication not provided [RCV001657535] Chr19:13300317..13300318 [GRCh38]
Chr19:13411131..13411132 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4950+3704C>T single nucleotide variant not provided [RCV001649340] Chr19:13241478 [GRCh38]
Chr19:13352292 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6995G>A (p.Arg2332Gln) single nucleotide variant not provided [RCV001658998] Chr19:13207839 [GRCh38]
Chr19:13318653 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3031G>A (p.Ala1011Thr) single nucleotide variant Tip-toe gait [RCV001580140] Chr19:13298602 [GRCh38]
Chr19:13409416 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.979-40C>G single nucleotide variant not provided [RCV001656745] Chr19:13335949 [GRCh38]
Chr19:13446763 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4950+3617G>A single nucleotide variant not provided [RCV001677359] Chr19:13241565 [GRCh38]
Chr19:13352379 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1082+47T>C single nucleotide variant not provided [RCV001657289] Chr19:13335759 [GRCh38]
Chr19:13446573 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6781-148TCC[4] microsatellite not provided [RCV001636041] Chr19:13208181..13208189 [GRCh38]
Chr19:13318995..13319003 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5941-38A>C single nucleotide variant not provided [RCV001687631] Chr19:13212778 [GRCh38]
Chr19:13323592 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1083-105_1083-104insAA insertion not provided [RCV001592540] Chr19:13334597..13334598 [GRCh38]
Chr19:13445411..13445412 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1555+60C>T single nucleotide variant not provided [RCV001674906] Chr19:13317052 [GRCh38]
Chr19:13427866 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4089+22G>A single nucleotide variant not provided [RCV001659167] Chr19:13262712 [GRCh38]
Chr19:13373526 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5735G>A (p.Gly1912Glu) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001169889] Chr19:13214605 [GRCh38]
Chr19:13325419 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6331A>G (p.Asn2111Asp) single nucleotide variant Episodic ataxia type 2 [RCV001072009]|not provided [RCV001819797] Chr19:13210625 [GRCh38]
Chr19:13321439 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4328A>G (p.Asp1443Gly) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001089968] Chr19:13259624 [GRCh38]
Chr19:13370438 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3457C>T (p.Gln1153Ter) single nucleotide variant not provided [RCV001092218] Chr19:13286599 [GRCh38]
Chr19:13397413 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6684T>G (p.Tyr2228Ter) single nucleotide variant not provided [RCV001169936] Chr19:13208852 [GRCh38]
Chr19:13319666 [GRCh37]
Chr19:19p13.13		 pathogenic
NC_000019.10:g.(?_13300530)_(13300676_?)del deletion Episodic ataxia type 2 [RCV001032730] Chr19:13411344..13411490 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001127222.2(CACNA1A):c.2533G>A (p.Val845Met) single nucleotide variant Episodic ataxia type 2 [RCV001045356] Chr19:13299100 [GRCh38]
Chr19:13409914 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5273ACA[1] (p.Asn1759del) microsatellite Episodic ataxia type 2 [RCV001066880] Chr19:13231832..13231834 [GRCh38]
Chr19:13342646..13342648 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.7261C>G (p.Pro2421Ala) single nucleotide variant not provided [RCV001590156] Chr19:13207573 [GRCh38]
Chr19:13318387 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4089+29G>T single nucleotide variant not provided [RCV001665642] Chr19:13262705 [GRCh38]
Chr19:13373519 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5154C>T (p.Ile1718=) single nucleotide variant Episodic ataxia type 2 [RCV002069610]|not provided [RCV001092215] Chr19:13235016 [GRCh38]
Chr19:13345830 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4590+133A>G single nucleotide variant not provided [RCV001714660] Chr19:13257217 [GRCh38]
Chr19:13368031 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5529-1098AT[9] microsatellite not provided [RCV001644374] Chr19:13228606..13228607 [GRCh38]
Chr19:13339420..13339421 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2520G>A (p.Ala840=) single nucleotide variant Episodic ataxia type 2 [RCV002072325]|not provided [RCV001585401] Chr19:13299113 [GRCh38]
Chr19:13409927 [GRCh37]
Chr19:19p13.13		 likely benign
NC_000019.10:g.(?_13259544)_(13259721_?)del deletion Episodic ataxia type 2 [RCV001033020] Chr19:13370358..13370535 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001127222.2(CACNA1A):c.*147C>A single nucleotide variant not provided [RCV001714661] Chr19:13207166 [GRCh38]
Chr19:13317980 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3693-249G>A single nucleotide variant not provided [RCV001611886] Chr19:13283645 [GRCh38]
Chr19:13394459 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3625C>A (p.Arg1209Ser) single nucleotide variant Episodic ataxia type 2 [RCV001035470] Chr19:13285135 [GRCh38]
Chr19:13395949 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.*302A>G single nucleotide variant not provided [RCV001584585] Chr19:13207011 [GRCh38]
Chr19:13317825 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-1080_5529-1077del deletion not provided [RCV001648076] Chr19:13228604..13228607 [GRCh38]
Chr19:13339418..13339421 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5690T>G (p.Met1897Arg) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001650474]|Episodic ataxia type 2 [RCV003771811] Chr19:13224708 [GRCh38]
Chr19:13335522 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1151A>G (p.Gln384Arg) single nucleotide variant Episodic ataxia type 2 [RCV001047576] Chr19:13334425 [GRCh38]
Chr19:13445239 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3526C>T (p.Pro1176Ser) single nucleotide variant Episodic ataxia type 2 [RCV001049946] Chr19:13286530 [GRCh38]
Chr19:13397344 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup) microsatellite Episodic ataxia type 2 [RCV002496035]|not provided [RCV001703277]|not specified [RCV001726673] Chr19:13207858..13207859 [GRCh38]
Chr19:13318672..13318673 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.6785G>A (p.Ser2262Asn) single nucleotide variant Episodic ataxia type 2 [RCV001050011] Chr19:13208049 [GRCh38]
Chr19:13318863 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2518_2529delinsCGG (p.Ala840_Pro843delinsArg) indel not provided [RCV001665490] Chr19:13299104..13299115 [GRCh38]
Chr19:13409918..13409929 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3532C>T (p.Leu1178Phe) single nucleotide variant not provided [RCV001665511] Chr19:13286524 [GRCh38]
Chr19:13397338 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2513G>T (p.Ser838Ile) single nucleotide variant Episodic ataxia type 2 [RCV001035905] Chr19:13299120 [GRCh38]
Chr19:13409934 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.631+37del deletion not provided [RCV001583431] Chr19:13371651 [GRCh38]
Chr19:13482465 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5625+50CTT[4] microsatellite Developmental and epileptic encephalopathy, 42 [RCV001554520]|Episodic ataxia type 2 [RCV001554521]|Migraine, familial hemiplegic, 1 [RCV001554522]|Spinocerebellar ataxia type 6 [RCV001554523]|not provided [RCV001685523] Chr19:13227367..13227369 [GRCh38]
Chr19:13338181..13338183 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4950+96A>C single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554524]|Episodic ataxia type 2 [RCV001554525]|Migraine, familial hemiplegic, 1 [RCV001554526]|Spinocerebellar ataxia type 6 [RCV001554527]|not provided [RCV001615322] Chr19:13245086 [GRCh38]
Chr19:13355900 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6780+36G>A single nucleotide variant not provided [RCV001681406] Chr19:13208720 [GRCh38]
Chr19:13319534 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6781-121_6781-116del microsatellite not provided [RCV001714497] Chr19:13208169..13208174 [GRCh38]
Chr19:13318983..13318988 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6189+4C>A single nucleotide variant Episodic ataxia type 2 [RCV001067170]|not specified [RCV002249667] Chr19:13212380 [GRCh38]
Chr19:13323194 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3364C>T (p.Arg1122Cys) single nucleotide variant Episodic ataxia type 2 [RCV001070104]|Episodic ataxia type 2 [RCV001258219]|not provided [RCV002260681] Chr19:13286692 [GRCh38]
Chr19:13397506 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.605C>T (p.Pro202Leu) single nucleotide variant Episodic ataxia type 2 [RCV002246439]|not provided [RCV001575419] Chr19:13371714 [GRCh38]
Chr19:13482528 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.4950+3703A>C single nucleotide variant not provided [RCV001682337] Chr19:13241479 [GRCh38]
Chr19:13352293 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6149G>T (p.Gly2050Val) single nucleotide variant Episodic ataxia type 2 [RCV001070257] Chr19:13212424 [GRCh38]
Chr19:13323238 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2426G>A (p.Arg809Gln) single nucleotide variant Episodic ataxia type 2 [RCV001866175]|not provided [RCV001583814] Chr19:13299207 [GRCh38]
Chr19:13410021 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2173-284_2173-283insC insertion not provided [RCV001645496] Chr19:13300939..13300940 [GRCh38]
Chr19:13411753..13411754 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6781-130_6781-122del deletion not provided [RCV001725592] Chr19:13208175..13208183 [GRCh38]
Chr19:13318989..13318997 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4590+184T>C single nucleotide variant not provided [RCV001672223] Chr19:13257166 [GRCh38]
Chr19:13367980 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5941-109GT[14] microsatellite not provided [RCV001540022] Chr19:13212827..13212828 [GRCh38]
Chr19:13323641..13323642 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6189+35G>A single nucleotide variant not provided [RCV001681590] Chr19:13212349 [GRCh38]
Chr19:13323163 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3210C>T (p.Asn1070=) single nucleotide variant CACNA1A-related disorder [RCV003985513]|Episodic ataxia type 2 [RCV002072340]|not provided [RCV001589873] Chr19:13286846 [GRCh38]
Chr19:13397660 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1198+228C>T single nucleotide variant not provided [RCV001588292] Chr19:13334150 [GRCh38]
Chr19:13444964 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5209A>T (p.Asn1737Tyr) single nucleotide variant not provided [RCV001665540] Chr19:13234961 [GRCh38]
Chr19:13345775 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5827A>G (p.Thr1943Ala) single nucleotide variant not provided [RCV001665550] Chr19:13214513 [GRCh38]
Chr19:13325327 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3882+196C>T single nucleotide variant not provided [RCV001725580] Chr19:13276873 [GRCh38]
Chr19:13387687 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.785-239dup duplication not provided [RCV001647756] Chr19:13360024..13360025 [GRCh38]
Chr19:13470838..13470839 [GRCh37]
Chr19:19p13.13		 benign
NC_000019.10:g.13506697C>A single nucleotide variant not provided [RCV001587105] Chr19:13506697 [GRCh38]
Chr19:13617511 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln) single nucleotide variant Episodic ataxia type 2 [RCV001859203]|Migraine, familial hemiplegic, 1 [RCV001198374]|not provided [RCV001751363] Chr19:13298829 [GRCh38]
Chr19:13409643 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1669-3T>C single nucleotide variant Episodic ataxia type 2 [RCV001207380] Chr19:13308531 [GRCh38]
Chr19:13419345 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6482G>A (p.Arg2161His) single nucleotide variant CACNA1A-related disorder [RCV003985485]|Episodic ataxia type 2 [RCV001207392] Chr19:13209356 [GRCh38]
Chr19:13320170 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6506G>A (p.Arg2169His) single nucleotide variant Episodic ataxia type 2 [RCV001056032]|not provided [RCV003425900] Chr19:13209332 [GRCh38]
Chr19:13320146 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3089+1G>A single nucleotide variant Episodic ataxia type 2 [RCV001234689] Chr19:13298543 [GRCh38]
Chr19:13409357 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1030ATC[2] (p.Ile346del) microsatellite CACNA1A-related disorder [RCV001249308]|not provided [RCV001572197] Chr19:13335850..13335852 [GRCh38]
Chr19:13446664..13446666 [GRCh37]
Chr19:19p13.13		 pathogenic|not provided
NM_001127222.2(CACNA1A):c.4256A>G (p.Lys1419Arg) single nucleotide variant Episodic ataxia type 2 [RCV001206201] Chr19:13259696 [GRCh38]
Chr19:13370510 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6623_6628dup (p.Arg2208_Gln2209dup) duplication Episodic ataxia type 2 [RCV001047072]|not provided [RCV002462279] Chr19:13208907..13208908 [GRCh38]
Chr19:13319721..13319722 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.225C>G (p.Asn75Lys) single nucleotide variant Episodic ataxia type 2 [RCV001235855] Chr19:13506000 [GRCh38]
Chr19:13616814 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2677C>T (p.Arg893Trp) single nucleotide variant Episodic ataxia type 2 [RCV001220274]|Inborn genetic diseases [RCV002436848] Chr19:13298956 [GRCh38]
Chr19:13409770 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.562G>C (p.Glu188Gln) single nucleotide variant Episodic ataxia type 2 [RCV001235912]|not provided [RCV001751462] Chr19:13371757 [GRCh38]
Chr19:13482571 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4370C>T (p.Thr1457Met) single nucleotide variant Episodic ataxia type 2 [RCV001035715] Chr19:13259582 [GRCh38]
Chr19:13370396 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6493C>T (p.Arg2165Cys) single nucleotide variant Episodic ataxia type 2 [RCV001071673]|Inborn genetic diseases [RCV003363104] Chr19:13209345 [GRCh38]
Chr19:13320159 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.655A>T (p.Ile219Phe) single nucleotide variant Episodic ataxia type 2 [RCV001042189] Chr19:13365446 [GRCh38]
Chr19:13476260 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1369A>G (p.Ile457Val) single nucleotide variant Episodic ataxia type 2 [RCV001862706]|Inborn genetic diseases [RCV003283970]|not provided [RCV001092224] Chr19:13317298 [GRCh38]
Chr19:13428112 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1346-6T>C single nucleotide variant not provided [RCV001092225] Chr19:13317327 [GRCh38]
Chr19:13428141 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter) single nucleotide variant Episodic ataxia type 2 [RCV001036072]|Episodic ataxia type 2 [RCV002227240] Chr19:13312702 [GRCh38]
Chr19:13423516 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5134-3C>T single nucleotide variant Episodic ataxia type 2 [RCV001042668]|not provided [RCV001538109] Chr19:13235039 [GRCh38]
Chr19:13345853 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6026C>A (p.Thr2009Asn) single nucleotide variant Episodic ataxia type 2 [RCV001230471] Chr19:13212655 [GRCh38]
Chr19:13323469 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) deletion Episodic ataxia type 2 [RCV001038879]|Episodic ataxia type 2 [RCV001814259] Chr19:13312690 [GRCh38]
Chr19:13423504 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.2490C>G (p.Asn830Lys) single nucleotide variant Episodic ataxia type 2 [RCV001039453] Chr19:13299143 [GRCh38]
Chr19:13409957 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3017G>A (p.Arg1006Gln) single nucleotide variant Episodic ataxia type 2 [RCV001039699]|not provided [RCV002305562] Chr19:13298616 [GRCh38]
Chr19:13409430 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.788A>T (p.Asp263Val) single nucleotide variant Episodic ataxia type 2 [RCV001058035] Chr19:13359796 [GRCh38]
Chr19:13470610 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2210T>C (p.Leu737Pro) single nucleotide variant Episodic ataxia type 2 [RCV001234081] Chr19:13300619 [GRCh38]
Chr19:13411433 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.985G>C (p.Asp329His) single nucleotide variant Episodic ataxia type 2 [RCV002559284]|not provided [RCV001200625] Chr19:13335903 [GRCh38]
Chr19:13446717 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7235G>T (p.Gly2412Val) single nucleotide variant not provided [RCV001091779] Chr19:13207599 [GRCh38]
Chr19:13318413 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2827C>T (p.Arg943Cys) single nucleotide variant Episodic ataxia type 2 [RCV001054617]|not provided [RCV001772269] Chr19:13298806 [GRCh38]
Chr19:13409620 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5801C>G (p.Ser1934Cys) single nucleotide variant Episodic ataxia type 2 [RCV001215194] Chr19:13214539 [GRCh38]
Chr19:13325353 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2813G>T (p.Gly938Val) single nucleotide variant Episodic ataxia type 2 [RCV001248018] Chr19:13298820 [GRCh38]
Chr19:13409634 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5400+8T>C single nucleotide variant Episodic ataxia type 2 [RCV002561078]|not provided [RCV001200622] Chr19:13231702 [GRCh38]
Chr19:13342516 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val) single nucleotide variant Episodic ataxia type 2 [RCV001216392]|Episodic ataxia type 2 [RCV002249808]|not provided [RCV001586058] Chr19:13255136 [GRCh38]
Chr19:13365950 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.3815G>A (p.Arg1272Gln) single nucleotide variant Episodic ataxia type 2 [RCV001213404]|not provided [RCV002269344] Chr19:13283274 [GRCh38]
Chr19:13394088 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2638C>T (p.Arg880Trp) single nucleotide variant Episodic ataxia type 2 [RCV001232421]|Inborn genetic diseases [RCV004033165] Chr19:13298995 [GRCh38]
Chr19:13409809 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4850T>C (p.Met1617Thr) single nucleotide variant Episodic ataxia type 2 [RCV001215162] Chr19:13253007 [GRCh38]
Chr19:13363821 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6750C>T (p.Ser2250=) single nucleotide variant Episodic ataxia type 2 [RCV001218404]|not provided [RCV001586061] Chr19:13208786 [GRCh38]
Chr19:13319600 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4516G>T (p.Val1506Leu) single nucleotide variant CACNA1A-related disorder [RCV003985476]|Episodic ataxia type 2 [RCV001052344]|Inborn genetic diseases [RCV002339264] Chr19:13257424 [GRCh38]
Chr19:13368238 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6528C>T (p.Gly2176=) single nucleotide variant Episodic ataxia type 2 [RCV003770231]|not provided [RCV001200621] Chr19:13209008 [GRCh38]
Chr19:13319822 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3106G>A (p.Gly1036Arg) single nucleotide variant Episodic ataxia type 2 [RCV001210979]|not provided [RCV001760183] Chr19:13286950 [GRCh38]
Chr19:13397764 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6211G>A (p.Gly2071Ser) single nucleotide variant Episodic ataxia type 2 [RCV001041193]|not provided [RCV003886470] Chr19:13212195 [GRCh38]
Chr19:13323009 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1676T>C (p.Ile559Thr) single nucleotide variant Episodic ataxia type 2 [RCV001218393] Chr19:13308521 [GRCh38]
Chr19:13419335 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser) single nucleotide variant Episodic ataxia type 2 [RCV001216762]|Episodic ataxia type 2 [RCV002274151]|not provided [RCV003414012] Chr19:13209480 [GRCh38]
Chr19:13320294 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.2983_3000dup (p.Gly995_Glu1000dup) duplication Episodic ataxia type 2 [RCV001041439] Chr19:13298632..13298633 [GRCh38]
Chr19:13409446..13409447 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His) single nucleotide variant Episodic ataxia type 2 [RCV001039877]|Intellectual disability [RCV001251920] Chr19:13235648 [GRCh38]
Chr19:13346462 [GRCh37]
Chr19:19p13.13		 likely pathogenic|likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.74T>G (p.Val25Gly) single nucleotide variant Episodic ataxia type 2 [RCV001071758] Chr19:13506151 [GRCh38]
Chr19:13616965 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6340-5C>G single nucleotide variant Episodic ataxia type 2 [RCV001035906] Chr19:13209503 [GRCh38]
Chr19:13320317 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1373A>G (p.Lys458Arg) single nucleotide variant not provided [RCV001171941] Chr19:13317294 [GRCh38]
Chr19:13428108 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2259G>A (p.Ala753=) single nucleotide variant Episodic ataxia type 2 [RCV001230211] Chr19:13300570 [GRCh38]
Chr19:13411384 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002272428]|Episodic ataxia type 2 [RCV001247687]|Episodic ataxia type 2 [RCV002227258]|Inborn genetic diseases [RCV003246815]|Spinocerebellar ataxia type 6 [RCV001542498]|not provided [RCV003322872] Chr19:13262771 [GRCh38]
Chr19:13373585 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.6067G>T (p.Gly2023Cys) single nucleotide variant Episodic ataxia type 2 [RCV001040794] Chr19:13212506 [GRCh38]
Chr19:13323320 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4297C>T (p.Arg1433Trp) single nucleotide variant Inborn genetic diseases [RCV001267130]|Spinocerebellar ataxia type 6 [RCV003387972]|not provided [RCV001200623] Chr19:13259655 [GRCh38]
Chr19:13370469 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys) single nucleotide variant Episodic ataxia type 2 [RCV003770232]|not provided [RCV001200624] Chr19:13317229 [GRCh38]
Chr19:13428043 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.767G>T (p.Cys256Phe) single nucleotide variant Episodic ataxia type 2 [RCV001041542] Chr19:13365334 [GRCh38]
Chr19:13476148 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1611G>T (p.Met537Ile) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002286823]|Episodic ataxia type 2 [RCV001216301] Chr19:13312726 [GRCh38]
Chr19:13423540 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6591G>T (p.Gln2197His) single nucleotide variant Episodic ataxia type 2 [RCV001204014] Chr19:13208945 [GRCh38]
Chr19:13319759 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6583C>T (p.Arg2195Trp) single nucleotide variant Episodic ataxia type 2 [RCV001037795] Chr19:13208953 [GRCh38]
Chr19:13319767 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5104T>C (p.Phe1702Leu) single nucleotide variant Episodic ataxia type 2 [RCV001038701] Chr19:13235238 [GRCh38]
Chr19:13346052 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6101G>A (p.Arg2034His) single nucleotide variant Episodic ataxia type 2 [RCV001062812]|not provided [RCV001552668] Chr19:13212472 [GRCh38]
Chr19:13323286 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.254A>G (p.Asn85Ser) single nucleotide variant Episodic ataxia type 2 [RCV001063128] Chr19:13505971 [GRCh38]
Chr19:13616785 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6776G>A (p.Arg2259Gln) single nucleotide variant CACNA1A-related disorder [RCV003985484]|Episodic ataxia type 2 [RCV001204176]|not provided [RCV002251557] Chr19:13208760 [GRCh38]
Chr19:13319574 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp) single nucleotide variant Episodic ataxia type 2 [RCV001204177]|Episodic ataxia type 2 [RCV002463365]|not provided [RCV001289289] Chr19:13234922 [GRCh38]
Chr19:13345736 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.1744C>T (p.Arg582Ter) single nucleotide variant Episodic ataxia type 2 [RCV001052581]|not provided [RCV001567380] Chr19:13308453 [GRCh38]
Chr19:13419267 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1737C>T (p.Ser579=) single nucleotide variant Episodic ataxia type 2 [RCV001216020] Chr19:13308460 [GRCh38]
Chr19:13419274 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1333A>G (p.Ile445Val) single nucleotide variant Episodic ataxia type 2 [RCV001039013] Chr19:13330256 [GRCh38]
Chr19:13441070 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1231C>T single nucleotide variant CACNA1A-related disorder [RCV003985479]|Episodic ataxia type 2 [RCV001063625]|not provided [RCV001664653] Chr19:13228758 [GRCh38]
Chr19:13339572 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4539_4540del (p.Phe1513fs) deletion Episodic ataxia type 2 [RCV001250805] Chr19:13257400..13257401 [GRCh38]
Chr19:13368214..13368215 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys) single nucleotide variant Episodic ataxia type 2 [RCV001202706]|Episodic ataxia type 2 [RCV002484087]|not provided [RCV001664748] Chr19:13317133 [GRCh38]
Chr19:13427947 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr) single nucleotide variant Seizure [RCV001255036]|not provided [RCV002069352]|not specified [RCV001664784] Chr19:13207507 [GRCh38]
Chr19:13318321 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1187T>C (p.Ile396Thr) single nucleotide variant Intellectual disability [RCV001251916] Chr19:13334389 [GRCh38]
Chr19:13445203 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5233C>T (p.Leu1745Phe) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001253342] Chr19:13234937 [GRCh38]
Chr19:13345751 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter) duplication Spinocerebellar ataxia type 6 [RCV001253514] Chr19:13230170..13230171 [GRCh38]
Chr19:13340984..13340985 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3478_3479del (p.Ala1160fs) deletion Developmental and epileptic encephalopathy, 42 [RCV001253610] Chr19:13286577..13286578 [GRCh38]
Chr19:13397391..13397392 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.674C>G (p.Pro225Arg) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001251167] Chr19:13365427 [GRCh38]
Chr19:13476241 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001253443]|Episodic ataxia type 2 [RCV002227259] Chr19:13262795 [GRCh38]
Chr19:13373609 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.2077T>A (p.Phe693Ile) single nucleotide variant Episodic ataxia type 2 [RCV001253055] Chr19:13303794 [GRCh38]
Chr19:13414608 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.190C>T (p.Pro64Ser) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001253517] Chr19:13506035 [GRCh38]
Chr19:13616849 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001254122]|Episodic ataxia type 2 [RCV002227260] Chr19:13262759 [GRCh38]
Chr19:13373573 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.7316C>T (p.Pro2439Leu) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001253014] Chr19:13207518 [GRCh38]
Chr19:13318332 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2202C>A (p.Asn734Lys) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001262152] Chr19:13300627 [GRCh38]
Chr19:13411441 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4103G>C (p.Cys1368Ser) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV001253287] Chr19:13261597 [GRCh38]
Chr19:13372411 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.602G>A (p.Arg201Gln) single nucleotide variant Episodic ataxia type 2 [RCV001880106]|Inborn genetic diseases [RCV001265970]|not provided [RCV001824436] Chr19:13371717 [GRCh38]
Chr19:13482531 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1898A>G (p.Gln633Arg) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001328542] Chr19:13308135 [GRCh38]
Chr19:13418949 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3039C>G (p.Tyr1013Ter) single nucleotide variant Episodic ataxia type 2 [RCV001328544] Chr19:13298594 [GRCh38]
Chr19:13409408 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3530C>T (p.Pro1177Leu) single nucleotide variant Episodic ataxia type 2 [RCV001328545]|Episodic ataxia type 2 [RCV001863186] Chr19:13286526 [GRCh38]
Chr19:13397340 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.826G>T (p.Glu276Ter) single nucleotide variant Spinocerebellar ataxia type 6 [RCV001328549]|not provided [RCV002293523] Chr19:13359758 [GRCh38]
Chr19:13470572 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1334_1335dup (p.Ala446Ter) microsatellite Episodic ataxia type 2 [RCV003097686]|Global developmental delay [RCV002285127] Chr19:13330253..13330254 [GRCh38]
Chr19:13441067..13441068 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.4250+1G>C single nucleotide variant not provided [RCV001311179] Chr19:13261449 [GRCh38]
Chr19:13372263 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001328547]|Episodic ataxia type 2 [RCV001307476]|Inborn genetic diseases [RCV002543195]|not provided [RCV003416180] Chr19:13208986 [GRCh38]
Chr19:13319800 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6754G>T (p.Gly2252Cys) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001328548]|Episodic ataxia type 2 [RCV001319646] Chr19:13208782 [GRCh38]
Chr19:13319596 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6004G>A (p.Gly2002Ser) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001262221] Chr19:13212677 [GRCh38]
Chr19:13323491 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1560T>G (p.Tyr520Ter) single nucleotide variant not provided [RCV001268023] Chr19:13312777 [GRCh38]
Chr19:13423591 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.38G>C (p.Gly13Ala) single nucleotide variant Neurodevelopmental abnormality [RCV001264642] Chr19:13506187 [GRCh38]
Chr19:13617001 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu) single nucleotide variant Episodic ataxia type 2 [RCV001964248] Chr19:13235220 [GRCh38]
Chr19:13346034 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2524G>T (p.Glu842Ter) single nucleotide variant Episodic ataxia type 2 [RCV001880119]|Inborn genetic diseases [RCV001266453] Chr19:13299109 [GRCh38]
Chr19:13409923 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1999G>A (p.Glu667Lys) single nucleotide variant Episodic ataxia type 2 [RCV001380079]|not provided [RCV001268015] Chr19:13303872 [GRCh38]
Chr19:13414686 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001333787]|Episodic ataxia type 2 [RCV002546650] Chr19:13208765 [GRCh38]
Chr19:13319579 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3998G>A (p.Ser1333Asn) single nucleotide variant Episodic ataxia type 2 [RCV001304114] Chr19:13262825 [GRCh38]
Chr19:13373639 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6937CAG[4] (p.Gln2317_Gln2325del) microsatellite CACNA1A-related disorder [RCV003985488]|Developmental and epileptic encephalopathy, 42 [RCV001262313]|not provided [RCV001535168] Chr19:13207859..13207885 [GRCh38]
Chr19:13318673..13318699 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.5068-49C>T single nucleotide variant not provided [RCV001765111] Chr19:13235323 [GRCh38]
Chr19:13346137 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.781del (p.Thr261fs) deletion Developmental and epileptic encephalopathy, 42 [RCV001812268] Chr19:13365320 [GRCh38]
Chr19:13476134 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.2312del (p.Lys771fs) deletion not provided [RCV001268643] Chr19:13299321 [GRCh38]
Chr19:13410135 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4434del (p.Ser1479fs) deletion not provided [RCV001268389] Chr19:13257506 [GRCh38]
Chr19:13368320 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4430G>A (p.Gly1477Asp) single nucleotide variant not provided [RCV001268390] Chr19:13257510 [GRCh38]
Chr19:13368324 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2905C>G (p.Pro969Ala) single nucleotide variant Episodic ataxia type 2 [RCV001258220]|not provided [RCV003405467] Chr19:13298728 [GRCh38]
Chr19:13409542 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3882+2T>C single nucleotide variant not provided [RCV001268681] Chr19:13277067 [GRCh38]
Chr19:13387881 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.7512T>C (p.Asp2504=) single nucleotide variant not provided [RCV001288057] Chr19:13207322 [GRCh38]
Chr19:13318136 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3420C>T (p.Pro1140=) single nucleotide variant Episodic ataxia type 2 [RCV002069555]|not specified [RCV001288838] Chr19:13286636 [GRCh38]
Chr19:13397450 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.7050C>T (p.Ala2350=) single nucleotide variant not provided [RCV001289298] Chr19:13207784 [GRCh38]
Chr19:13318598 [GRCh37]
Chr19:19p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.4337T>C (p.Leu1446Pro) single nucleotide variant not provided [RCV002284916] Chr19:13259615 [GRCh38]
Chr19:13370429 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3989+1G>C single nucleotide variant Episodic ataxia type 2 [RCV001260992] Chr19:13275849 [GRCh38]
Chr19:13386663 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.4089+2T>G single nucleotide variant Episodic ataxia type 2 [RCV001261167] Chr19:13262732 [GRCh38]
Chr19:13373546 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3697C>T (p.Arg1233Cys) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001262315]|Episodic ataxia type 2 [RCV001880039] Chr19:13283392 [GRCh38]
Chr19:13394206 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7136C>T (p.Ser2379Phe) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001328550] Chr19:13207698 [GRCh38]
Chr19:13318512 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2482C>T (p.Gln828Ter) single nucleotide variant Episodic ataxia type 2 [RCV001336208] Chr19:13299151 [GRCh38]
Chr19:13409965 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly) single nucleotide variant Episodic ataxia type 2 [RCV001318930]|not provided [RCV003318680] Chr19:13359679 [GRCh38]
Chr19:13470493 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.3599A>G (p.Glu1200Gly) single nucleotide variant Episodic ataxia type 2 [RCV001298527] Chr19:13285161 [GRCh38]
Chr19:13395975 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3383C>A (p.Pro1128Gln) single nucleotide variant Episodic ataxia type 2 [RCV001295279] Chr19:13286673 [GRCh38]
Chr19:13397487 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.685A>G (p.Ile229Val) single nucleotide variant Episodic ataxia type 2 [RCV001341786] Chr19:13365416 [GRCh38]
Chr19:13476230 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1393T>G (p.Ser465Ala) single nucleotide variant Episodic ataxia type 2 [RCV001319169]|not provided [RCV002070148]|not specified [RCV003479311] Chr19:13317274 [GRCh38]
Chr19:13428088 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2611C>T (p.Pro871Ser) single nucleotide variant Episodic ataxia type 2 [RCV003770457]|not provided [RCV001288486] Chr19:13299022 [GRCh38]
Chr19:13409836 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2989G>A (p.Asp997Asn) single nucleotide variant Epileptic encephalopathy [RCV003483808]|Episodic ataxia type 2 [RCV001318501]|not provided [RCV001288834] Chr19:13298644 [GRCh38]
Chr19:13409458 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3002G>T (p.Arg1001Leu) single nucleotide variant Episodic ataxia type 2 [RCV003770462]|not provided [RCV001288836] Chr19:13298631 [GRCh38]
Chr19:13409445 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3848T>C (p.Phe1283Ser) single nucleotide variant not provided [RCV001288840] Chr19:13277103 [GRCh38]
Chr19:13387917 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2505C>T (p.Thr835=) single nucleotide variant not provided [RCV001288485] Chr19:13299128 [GRCh38]
Chr19:13409942 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro) single nucleotide variant Episodic ataxia type 2 [RCV001368887]|Migraine, familial hemiplegic, 1 [RCV001281101] Chr19:13262796 [GRCh38]
Chr19:13373610 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.3914_3936del (p.Gly1305fs) deletion not provided [RCV001288841] Chr19:13275903..13275925 [GRCh38]
Chr19:13386717..13386739 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr) single nucleotide variant Episodic ataxia type 2 [RCV001319286] Chr19:13230184 [GRCh38]
Chr19:13340998 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.5580G>A (p.Pro1860=) single nucleotide variant not provided [RCV001289291] Chr19:13227476 [GRCh38]
Chr19:13338290 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1142G>A (p.Arg381Gln) single nucleotide variant Episodic ataxia type 2 [RCV001298978]|not provided [RCV002473257] Chr19:13334434 [GRCh38]
Chr19:13445248 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2996dup (p.Glu1000fs) duplication not provided [RCV001288835] Chr19:13298636..13298637 [GRCh38]
Chr19:13409450..13409451 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4574G>A (p.Ser1525Asn) single nucleotide variant Episodic ataxia type 2 [RCV002541795]|not provided [RCV001288845] Chr19:13257366 [GRCh38]
Chr19:13368180 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5158G>A (p.Val1720Met) single nucleotide variant Episodic ataxia type 2 [RCV001436395]|not provided [RCV001289288] Chr19:13235012 [GRCh38]
Chr19:13345826 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.7368G>A (p.Arg2456=) single nucleotide variant not provided [RCV001289299] Chr19:13207466 [GRCh38]
Chr19:13318280 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6976_6979del (p.Ala2326fs) deletion Epileptic encephalopathy, early infantile, 42 [RCV001336207] Chr19:13207855..13207858 [GRCh38]
Chr19:13318669..13318672 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5695C>G (p.Leu1899Val) single nucleotide variant Episodic ataxia type 2 [RCV001327185] Chr19:13224703 [GRCh38]
Chr19:13335517 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1805T>C (p.Leu602Pro) single nucleotide variant Episodic ataxia type 2 [RCV001301924] Chr19:13308228 [GRCh38]
Chr19:13419042 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg) single nucleotide variant Episodic ataxia type 2 [RCV001863157]|Episodic ataxia type 2 [RCV002227266]|Migraine, familial hemiplegic, 1 [RCV001290255] Chr19:13308190 [GRCh38]
Chr19:13419004 [GRCh37]
Chr19:19p13.13		 pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.5843C>T (p.Thr1948Met) single nucleotide variant Episodic ataxia type 2 [RCV001317965] Chr19:13214330 [GRCh38]
Chr19:13325144 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2674A>G (p.Ser892Gly) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001336209] Chr19:13298959 [GRCh38]
Chr19:13409773 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6609G>C (p.Lys2203Asn) single nucleotide variant Episodic ataxia type 2 [RCV001301305] Chr19:13208927 [GRCh38]
Chr19:13319741 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2974G>C (p.Glu992Gln) single nucleotide variant Episodic ataxia type 2 [RCV001308418] Chr19:13298659 [GRCh38]
Chr19:13409473 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1277A>G (p.Lys426Arg) single nucleotide variant Episodic ataxia type 2 [RCV001309303] Chr19:13330312 [GRCh38]
Chr19:13441126 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6596G>A (p.Arg2199Gln) single nucleotide variant Episodic ataxia type 2 [RCV001309429] Chr19:13208940 [GRCh38]
Chr19:13319754 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4327G>A (p.Asp1443Asn) single nucleotide variant Episodic ataxia type 2 [RCV001321149] Chr19:13259625 [GRCh38]
Chr19:13370439 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4324T>G (p.Tyr1442Asp) single nucleotide variant Episodic ataxia type 2 [RCV001308810] Chr19:13259628 [GRCh38]
Chr19:13370442 [GRCh37]
Chr19:19p13.13		 pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.698T>C (p.Leu233Pro) single nucleotide variant Episodic ataxia type 2 [RCV001348493] Chr19:13365403 [GRCh38]
Chr19:13476217 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6385G>C (p.Gly2129Arg) single nucleotide variant Episodic ataxia type 2 [RCV001318724] Chr19:13209453 [GRCh38]
Chr19:13320267 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.760A>G (p.Thr254Ala) single nucleotide variant Episodic ataxia type 2 [RCV001321287] Chr19:13365341 [GRCh38]
Chr19:13476155 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1442G>A (p.Arg481His) single nucleotide variant Episodic ataxia type 2 [RCV001299627]|Inborn genetic diseases [RCV002393709] Chr19:13317225 [GRCh38]
Chr19:13428039 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4867-6T>G single nucleotide variant Episodic ataxia type 2 [RCV001326021] Chr19:13245271 [GRCh38]
Chr19:13356085 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7194C>G (p.Ser2398=) single nucleotide variant not provided [RCV001311174] Chr19:13207640 [GRCh38]
Chr19:13318454 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6425G>A (p.Arg2142Gln) single nucleotide variant Episodic ataxia type 2 [RCV002543570]|Inborn genetic diseases [RCV002543571]|not provided [RCV001311176] Chr19:13209413 [GRCh38]
Chr19:13320227 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3945C>T (p.Leu1315=) single nucleotide variant not provided [RCV001311180] Chr19:13275894 [GRCh38]
Chr19:13386708 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2819G>A (p.Arg940Lys) single nucleotide variant Episodic ataxia type 2 [RCV001309295] Chr19:13298814 [GRCh38]
Chr19:13409628 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro) single nucleotide variant Episodic ataxia type 2 [RCV001342802]|Episodic ataxia type 2 [RCV002493757]|not provided [RCV001566724] Chr19:13208892 [GRCh38]
Chr19:13319706 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1998C>T (p.Gly666=) single nucleotide variant Episodic ataxia type 2 [RCV001300004] Chr19:13303873 [GRCh38]
Chr19:13414687 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6735G>T (p.Trp2245Cys) single nucleotide variant Episodic ataxia type 2 [RCV001302379] Chr19:13208801 [GRCh38]
Chr19:13319615 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3377A>G (p.Asn1126Ser) single nucleotide variant Episodic ataxia type 2 [RCV001343761]|not provided [RCV001311496] Chr19:13286679 [GRCh38]
Chr19:13397493 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4707C>T (p.Tyr1569=) single nucleotide variant Episodic ataxia type 2 [RCV001414298] Chr19:13255143 [GRCh38]
Chr19:13365957 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3883-5C>A single nucleotide variant Episodic ataxia type 2 [RCV001433358] Chr19:13275961 [GRCh38]
Chr19:13386775 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.324C>G (p.Ile108Met) single nucleotide variant Episodic ataxia type 2 [RCV001361329] Chr19:13455182 [GRCh38]
Chr19:13565996 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6629A>G (p.His2210Arg) single nucleotide variant Episodic ataxia type 2 [RCV001362317]|not provided [RCV001762622] Chr19:13208907 [GRCh38]
Chr19:13319721 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1969A>G (p.Ile657Val) single nucleotide variant Episodic ataxia type 2 [RCV001324638] Chr19:13307799 [GRCh38]
Chr19:13418613 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_13414350)_13418678del deletion Episodic ataxia type 2 [RCV001382629]   pathogenic
NC_000019.9:g.(?_13338225)_(13342694_?)del deletion Episodic ataxia type 2 [RCV001382630] Chr19:13338225..13342694 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001127222.2(CACNA1A):c.1329T>C (p.Ala443=) single nucleotide variant not provided [RCV001288483] Chr19:13330260 [GRCh38]
Chr19:13441074 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.302A>C (p.Glu101Ala) single nucleotide variant not provided [RCV001288837] Chr19:13455204 [GRCh38]
Chr19:13566018 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4251-7G>A single nucleotide variant not provided [RCV001288844] Chr19:13259708 [GRCh38]
Chr19:13370522 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser) single nucleotide variant Episodic ataxia type 2 [RCV001315986]|Episodic ataxia type 2 [RCV002476470] Chr19:13286653 [GRCh38]
Chr19:13397467 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5626-3T>C single nucleotide variant Episodic ataxia type 2 [RCV001307040] Chr19:13224775 [GRCh38]
Chr19:13335589 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3157G>C (p.Asp1053His) single nucleotide variant Episodic ataxia type 2 [RCV001374159] Chr19:13286899 [GRCh38]
Chr19:13397713 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3563del (p.Asn1188fs) deletion Episodic ataxia type 2 [RCV001382433] Chr19:13285197 [GRCh38]
Chr19:13396011 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6408_6409insTAGCCTG (p.Asp2137Ter) insertion not provided [RCV001289295] Chr19:13209429..13209430 [GRCh38]
Chr19:13320243..13320244 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2547C>T (p.Leu849=) single nucleotide variant Episodic ataxia type 2 [RCV001433413] Chr19:13299086 [GRCh38]
Chr19:13409900 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2319del (p.Trp774fs) deletion Episodic ataxia type 2 [RCV001382456] Chr19:13299314 [GRCh38]
Chr19:13410128 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5529-1245T>C single nucleotide variant Episodic ataxia type 2 [RCV001369302]|not provided [RCV002285480] Chr19:13228772 [GRCh38]
Chr19:13339586 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4561A>G (p.Met1521Val) single nucleotide variant Episodic ataxia type 2 [RCV001361769] Chr19:13257379 [GRCh38]
Chr19:13368193 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2984G>T (p.Gly995Val) single nucleotide variant Episodic ataxia type 2 [RCV001369398] Chr19:13298649 [GRCh38]
Chr19:13409463 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.526del (p.Val176fs) deletion Episodic ataxia type 2 [RCV001869624]|not provided [RCV001813889] Chr19:13452889 [GRCh38]
Chr19:13563703 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6527-8C>T single nucleotide variant Episodic ataxia type 2 [RCV001397278] Chr19:13209017 [GRCh38]
Chr19:13319831 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6366G>A (p.Lys2122=) single nucleotide variant Episodic ataxia type 2 [RCV001414612] Chr19:13209472 [GRCh38]
Chr19:13320286 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1882G>A (p.Ala628Thr) single nucleotide variant Episodic ataxia type 2 [RCV001359986] Chr19:13308151 [GRCh38]
Chr19:13418965 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.4636C>T (p.His1546Tyr) single nucleotide variant Episodic ataxia type 2 [RCV001369640]|Inborn genetic diseases [RCV004037086] Chr19:13255214 [GRCh38]
Chr19:13366028 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg) single nucleotide variant Episodic ataxia type 2 [RCV002499596]|not provided [RCV001311172] Chr19:13207393 [GRCh38]
Chr19:13318207 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7203C>T (p.Pro2401=) single nucleotide variant not provided [RCV001311173] Chr19:13207631 [GRCh38]
Chr19:13318445 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6640C>A (p.His2214Asn) single nucleotide variant Episodic ataxia type 2 [RCV001359050] Chr19:13208896 [GRCh38]
Chr19:13319710 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1914-5T>C single nucleotide variant Episodic ataxia type 2 [RCV001433973] Chr19:13307859 [GRCh38]
Chr19:13418673 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2105-8A>G single nucleotide variant Episodic ataxia type 2 [RCV001431010]|not provided [RCV001311498] Chr19:13303621 [GRCh38]
Chr19:13414435 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3489C>G (p.Pro1163=) single nucleotide variant Episodic ataxia type 2 [RCV001422478] Chr19:13286567 [GRCh38]
Chr19:13397381 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.709A>G (p.Ile237Val) single nucleotide variant Global developmental delay [RCV001527651]|Spinocerebellar ataxia type 6 [RCV001333789] Chr19:13365392 [GRCh38]
Chr19:13476206 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4203A>G (p.Lys1401=) single nucleotide variant Episodic ataxia type 2 [RCV001397637] Chr19:13261497 [GRCh38]
Chr19:13372311 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6322C>A (p.Arg2108Ser) single nucleotide variant Episodic ataxia type 2 [RCV001306423] Chr19:13210634 [GRCh38]
Chr19:13321448 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2105A>T (p.Tyr702Phe) single nucleotide variant Episodic ataxia type 2 [RCV001350182] Chr19:13303613 [GRCh38]
Chr19:13414427 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6083C>T (p.Pro2028Leu) single nucleotide variant Episodic ataxia type 2 [RCV001361036] Chr19:13212490 [GRCh38]
Chr19:13323304 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1118G>A (p.Arg373Gln) single nucleotide variant Episodic ataxia type 2 [RCV001372041] Chr19:13334458 [GRCh38]
Chr19:13445272 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3052C>T (p.Arg1018Trp) single nucleotide variant Episodic ataxia type 2 [RCV001871778]|not provided [RCV001311497] Chr19:13298581 [GRCh38]
Chr19:13409395 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6339+4T>C single nucleotide variant Episodic ataxia type 2 [RCV001301311] Chr19:13210613 [GRCh38]
Chr19:13321427 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2776G>A (p.Gly926Arg) single nucleotide variant Episodic ataxia type 2 [RCV001301416] Chr19:13298857 [GRCh38]
Chr19:13409671 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2971G>A (p.Gly991Ser) single nucleotide variant Episodic ataxia type 2 [RCV001343554] Chr19:13298662 [GRCh38]
Chr19:13409476 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro) single nucleotide variant Episodic ataxia type 2 [RCV001371088]|Migraine, familial hemiplegic, 1 [RCV003444848]|not provided [RCV003322889] Chr19:13209470 [GRCh38]
Chr19:13320284 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2696G>A (p.Arg899His) single nucleotide variant Episodic ataxia type 2 [RCV001373706] Chr19:13298937 [GRCh38]
Chr19:13409751 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5994_5996dup (p.Gly2000dup) duplication Episodic ataxia type 2 [RCV001344806] Chr19:13212684..13212685 [GRCh38]
Chr19:13323498..13323499 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3515C>G (p.Pro1172Arg) single nucleotide variant Episodic ataxia type 2 [RCV001301639] Chr19:13286541 [GRCh38]
Chr19:13397355 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter) single nucleotide variant Episodic ataxia type 2 [RCV001871718]|Episodic ataxia type 2 [RCV003294188]|not provided [RCV001288484] Chr19:13308248 [GRCh38]
Chr19:13419062 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.3873G>A (p.Met1291Ile) single nucleotide variant Episodic ataxia type 2 [RCV001370086] Chr19:13277078 [GRCh38]
Chr19:13387892 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5940+6C>T single nucleotide variant Episodic ataxia type 2 [RCV001337903] Chr19:13214227 [GRCh38]
Chr19:13325041 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3700C>T (p.Arg1234Cys) single nucleotide variant Episodic ataxia type 2 [RCV001342238]|Inborn genetic diseases [RCV002546954] Chr19:13283389 [GRCh38]
Chr19:13394203 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2842C>T (p.Arg948Cys) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001732126]|Episodic ataxia type 2 [RCV001320295] Chr19:13298791 [GRCh38]
Chr19:13409605 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6655C>A (p.His2219Asn) single nucleotide variant Episodic ataxia type 2 [RCV001346759] Chr19:13208881 [GRCh38]
Chr19:13319695 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.632-8C>T single nucleotide variant not provided [RCV001289294] Chr19:13365477 [GRCh38]
Chr19:13476291 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3048C>G (p.Asp1016Glu) single nucleotide variant Episodic ataxia type 2 [RCV001314713] Chr19:13298585 [GRCh38]
Chr19:13409399 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1345G>C (p.Gly449Arg) single nucleotide variant Episodic ataxia type 2 [RCV001327422] Chr19:13330244 [GRCh38]
Chr19:13441058 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1924G>A (p.Asp642Asn) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001290133] Chr19:13307844 [GRCh38]
Chr19:13418658 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.169C>T (p.Arg57Trp) single nucleotide variant Episodic ataxia type 2 [RCV001320428] Chr19:13506056 [GRCh38]
Chr19:13616870 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3430C>T (p.Leu1144Phe) single nucleotide variant Episodic ataxia type 2 [RCV001346037] Chr19:13286626 [GRCh38]
Chr19:13397440 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2717G>A (p.Arg906Gln) single nucleotide variant Episodic ataxia type 2 [RCV001372139] Chr19:13298916 [GRCh38]
Chr19:13409730 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_13316256)_(13618274_?)dup duplication Episodic ataxia type 2 [RCV001372180] Chr19:13316256..13618274 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001127222.2(CACNA1A):c.5904C>T (p.Ser1968=) single nucleotide variant Episodic ataxia type 2 [RCV001363085] Chr19:13214269 [GRCh38]
Chr19:13325083 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2280-16_2280-7del deletion Episodic ataxia type 2 [RCV001326802] Chr19:13299360..13299369 [GRCh38]
Chr19:13410174..13410183 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5854G>A (p.Val1952Met) single nucleotide variant Episodic ataxia type 2 [RCV001344041]|not provided [RCV001773686] Chr19:13214319 [GRCh38]
Chr19:13325133 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6678C>A (p.Asp2226Glu) single nucleotide variant Episodic ataxia type 2 [RCV001324263] Chr19:13208858 [GRCh38]
Chr19:13319672 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3410C>A (p.Pro1137His) single nucleotide variant Episodic ataxia type 2 [RCV001302114] Chr19:13286646 [GRCh38]
Chr19:13397460 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5401-3C>T single nucleotide variant Episodic ataxia type 2 [RCV001314022]|not provided [RCV001540441] Chr19:13230212 [GRCh38]
Chr19:13341026 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.337A>G (p.Ile113Val) single nucleotide variant Episodic ataxia type 2 [RCV001308789]|not provided [RCV001773618] Chr19:13455169 [GRCh38]
Chr19:13565983 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6649C>T (p.His2217Tyr) single nucleotide variant Episodic ataxia type 2 [RCV001347391] Chr19:13208887 [GRCh38]
Chr19:13319701 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3715A>G (p.Ile1239Val) single nucleotide variant Episodic ataxia type 2 [RCV001363380]|not provided [RCV003145619] Chr19:13283374 [GRCh38]
Chr19:13394188 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1254A>T single nucleotide variant Episodic ataxia type 2 [RCV001297532] Chr19:13228781 [GRCh38]
Chr19:13339595 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6650A>T (p.His2217Leu) single nucleotide variant Episodic ataxia type 2 [RCV001307060] Chr19:13208886 [GRCh38]
Chr19:13319700 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3565G>A (p.Ala1189Thr) single nucleotide variant Episodic ataxia type 2 [RCV001323391] Chr19:13285195 [GRCh38]
Chr19:13396009 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7165C>T (p.Arg2389Trp) single nucleotide variant not provided [RCV001311175] Chr19:13207669 [GRCh38]
Chr19:13318483 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4828_4829del (p.Leu1610fs) microsatellite not provided [RCV001311178] Chr19:13253028..13253029 [GRCh38]
Chr19:13363842..13363843 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile) single nucleotide variant Episodic ataxia type 2 [RCV001296448]|Episodic ataxia type 2 [RCV002227269]|Episodic ataxia type 2 [RCV003883173]|not provided [RCV003145516] Chr19:13262759 [GRCh38]
Chr19:13373573 [GRCh37]
Chr19:19p13.13		 pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.3371C>T (p.Thr1124Met) single nucleotide variant Episodic ataxia type 2 [RCV001361891]|not provided [RCV003482367] Chr19:13286685 [GRCh38]
Chr19:13397499 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3626G>A (p.Arg1209His) single nucleotide variant Episodic ataxia type 2 [RCV001347887]|Inborn genetic diseases [RCV002456508] Chr19:13285134 [GRCh38]
Chr19:13395948 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2872C>A (p.His958Asn) single nucleotide variant Episodic ataxia type 2 [RCV001298659]|Inborn genetic diseases [RCV002437014]|not provided [RCV002305593] Chr19:13298761 [GRCh38]
Chr19:13409575 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.806C>T (p.Pro269Leu) single nucleotide variant Episodic ataxia type 2 [RCV001298721] Chr19:13359778 [GRCh38]
Chr19:13470592 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2669A>G (p.Glu890Gly) single nucleotide variant Episodic ataxia type 2 [RCV001340190] Chr19:13298964 [GRCh38]
Chr19:13409778 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6250A>G (p.Met2084Val) single nucleotide variant Episodic ataxia type 2 [RCV001321167] Chr19:13212156 [GRCh38]
Chr19:13322970 [GRCh37]
Chr19:19p13.13		 uncertain significance
GRCh37/hg19 19p13.2(chr19:13563690-13566026)x1 copy number loss not provided [RCV001311543] Chr19:13563690..13566026 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001127222.2(CACNA1A):c.4535C>A (p.Thr1512Asn) single nucleotide variant Episodic ataxia type 2 [RCV001363713] Chr19:13257405 [GRCh38]
Chr19:13368219 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3241C>T (p.Pro1081Ser) single nucleotide variant Episodic ataxia type 2 [RCV001367526]|not provided [RCV002285478] Chr19:13286815 [GRCh38]
Chr19:13397629 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6599G>C (p.Gly2200Ala) single nucleotide variant Episodic ataxia type 2 [RCV001370827] Chr19:13208937 [GRCh38]
Chr19:13319751 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1248A>G single nucleotide variant Episodic ataxia type 2 [RCV001322613] Chr19:13228775 [GRCh38]
Chr19:13339589 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6729G>C (p.Gln2243His) single nucleotide variant Episodic ataxia type 2 [RCV001373265] Chr19:13208807 [GRCh38]
Chr19:13319621 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6695G>A (p.Arg2232Gln) single nucleotide variant Episodic ataxia type 2 [RCV001298890] Chr19:13208841 [GRCh38]
Chr19:13319655 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NC_000019.9:g.(?_13135448)_(13574132_?)dup duplication Episodic ataxia type 2 [RCV001299849] Chr19:13135448..13574132 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001127222.2(CACNA1A):c.688G>C (p.Gly230Arg) single nucleotide variant Episodic ataxia type 2 [RCV001301264] Chr19:13365413 [GRCh38]
Chr19:13476227 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.5529-1230G>A single nucleotide variant Episodic ataxia type 2 [RCV001326277] Chr19:13228757 [GRCh38]
Chr19:13339571 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6460C>T (p.Arg2154Trp) single nucleotide variant Episodic ataxia type 2 [RCV001304925]|Inborn genetic diseases [RCV002543117]|not provided [RCV001815537] Chr19:13209378 [GRCh38]
Chr19:13320192 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5484G>A (p.Leu1828=) single nucleotide variant Episodic ataxia type 2 [RCV001350882] Chr19:13230126 [GRCh38]
Chr19:13340940 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1276_5529-1274del deletion Episodic ataxia type 2 [RCV001413747] Chr19:13228801..13228803 [GRCh38]
Chr19:13339615..13339617 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.37G>A (p.Gly13Arg) single nucleotide variant Episodic ataxia type 2 [RCV001325412] Chr19:13506188 [GRCh38]
Chr19:13617002 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6722G>A (p.Arg2241Gln) single nucleotide variant Episodic ataxia type 2 [RCV001316387]|not provided [RCV002276688] Chr19:13208814 [GRCh38]
Chr19:13319628 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6050T>C (p.Leu2017Pro) single nucleotide variant Episodic ataxia type 2 [RCV001305669] Chr19:13212631 [GRCh38]
Chr19:13323445 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met) single nucleotide variant Episodic ataxia type 2 [RCV001326413]|not provided [RCV001569193]|not specified [RCV003331116] Chr19:13212213 [GRCh38]
Chr19:13323027 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2726G>A (p.Ser909Asn) single nucleotide variant not provided [RCV001288487] Chr19:13298907 [GRCh38]
Chr19:13409721 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3621C>T (p.Asp1207=) single nucleotide variant Episodic ataxia type 2 [RCV001497171]|not provided [RCV001288839] Chr19:13285139 [GRCh38]
Chr19:13395953 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.399+1G>C single nucleotide variant not provided [RCV001288842] Chr19:13455106 [GRCh38]
Chr19:13565920 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.4867-7dup duplication not provided [RCV001288846] Chr19:13245271..13245272 [GRCh38]
Chr19:13356085..13356086 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6458A>G (p.Gln2153Arg) single nucleotide variant Episodic ataxia type 2 [RCV003770464]|not provided [RCV001289296] Chr19:13209380 [GRCh38]
Chr19:13320194 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6505C>G (p.Arg2169Gly) single nucleotide variant Episodic ataxia type 2 [RCV001295638] Chr19:13209333 [GRCh38]
Chr19:13320147 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3626G>T (p.Arg1209Leu) single nucleotide variant Episodic ataxia type 2 [RCV001366857] Chr19:13285134 [GRCh38]
Chr19:13395948 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.774A>G (p.Glu258=) single nucleotide variant Episodic ataxia type 2 [RCV001300082] Chr19:13365327 [GRCh38]
Chr19:13476141 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4805T>C (p.Ile1602Thr) single nucleotide variant Episodic ataxia type 2 [RCV001351419] Chr19:13253052 [GRCh38]
Chr19:13363866 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2940C>G (p.Arg980=) single nucleotide variant Episodic ataxia type 2 [RCV001422048]|Inborn genetic diseases [RCV002438986]|not specified [RCV001664872] Chr19:13298693 [GRCh38]
Chr19:13409507 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1246C>T (p.Pro416Ser) single nucleotide variant Episodic ataxia type 2 [RCV001327425] Chr19:13332878 [GRCh38]
Chr19:13443692 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2309C>T (p.Ala770Val) single nucleotide variant Episodic ataxia type 2 [RCV001367280] Chr19:13299324 [GRCh38]
Chr19:13410138 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1377T>G (p.Ser459Arg) single nucleotide variant Episodic ataxia type 2 [RCV001316149] Chr19:13317290 [GRCh38]
Chr19:13428104 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4508A>G (p.Asn1503Ser) single nucleotide variant Cerebellar ataxia [RCV001353223] Chr19:13257432 [GRCh38]
Chr19:13368246 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3077A>G (p.His1026Arg) single nucleotide variant Episodic ataxia type 2 [RCV001307689] Chr19:13298556 [GRCh38]
Chr19:13409370 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5057A>G (p.Gln1686Arg) single nucleotide variant Episodic ataxia type 2 [RCV001307999]|not specified [RCV003387990] Chr19:13235624 [GRCh38]
Chr19:13346438 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4941dup (p.Glu1648Ter) duplication not provided [RCV001311177] Chr19:13245190..13245191 [GRCh38]
Chr19:13356004..13356005 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.7067C>T (p.Thr2356Met) single nucleotide variant Spinocerebellar ataxia type 6 [RCV001333152] Chr19:13207767 [GRCh38]
Chr19:13318581 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.348A>T (p.Ala116=) single nucleotide variant Episodic ataxia type 2 [RCV001396014] Chr19:13455158 [GRCh38]
Chr19:13565972 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-1211C>T single nucleotide variant Episodic ataxia type 2 [RCV001396284] Chr19:13228738 [GRCh38]
Chr19:13339552 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.191C>T (p.Pro64Leu) single nucleotide variant Episodic ataxia type 2 [RCV001365794] Chr19:13506034 [GRCh38]
Chr19:13616848 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.191C>A (p.Pro64His) single nucleotide variant not provided [RCV001507937] Chr19:13506034 [GRCh38]
Chr19:13616848 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5871A>G (p.Ala1957=) single nucleotide variant Episodic ataxia type 2 [RCV001450233] Chr19:13214302 [GRCh38]
Chr19:13325116 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val) single nucleotide variant Episodic ataxia type 2 [RCV001296808]|Episodic ataxia type 2 [RCV003483809] Chr19:13253053 [GRCh38]
Chr19:13363867 [GRCh37]
Chr19:19p13.13		 uncertain significance|not provided
NM_001127222.2(CACNA1A):c.5840-8G>A single nucleotide variant Episodic ataxia type 2 [RCV001339736] Chr19:13214341 [GRCh38]
Chr19:13325155 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1804C>T (p.Leu602=) single nucleotide variant Episodic ataxia type 2 [RCV001435527] Chr19:13308229 [GRCh38]
Chr19:13419043 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2626G>A (p.Gly876Ser) single nucleotide variant Episodic ataxia type 2 [RCV001424304]|not provided [RCV001563313] Chr19:13299007 [GRCh38]
Chr19:13409821 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2796C>T (p.His932=) single nucleotide variant Episodic ataxia type 2 [RCV001456906]|Inborn genetic diseases [RCV002439080] Chr19:13298837 [GRCh38]
Chr19:13409651 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3807C>T (p.Asn1269=) single nucleotide variant Episodic ataxia type 2 [RCV001522283]|not provided [RCV003416383] Chr19:13283282 [GRCh38]
Chr19:13394096 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.6105C>T (p.Ala2035=) single nucleotide variant Episodic ataxia type 2 [RCV001469945] Chr19:13212468 [GRCh38]
Chr19:13323282 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4143C>T (p.Ile1381=) single nucleotide variant Episodic ataxia type 2 [RCV001424863] Chr19:13261557 [GRCh38]
Chr19:13372371 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6397_6403del (p.Arg2133fs) deletion Episodic ataxia type 2 [RCV001384990] Chr19:13209435..13209441 [GRCh38]
Chr19:13320249..13320255 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.867C>G (p.Pro289=) single nucleotide variant Episodic ataxia type 2 [RCV001436163] Chr19:13359717 [GRCh38]
Chr19:13470531 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6192C>T (p.Ser2064=) single nucleotide variant Episodic ataxia type 2 [RCV001394432]|Inborn genetic diseases [RCV002368243]|not specified [RCV001664864] Chr19:13212214 [GRCh38]
Chr19:13323028 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2198C>T (p.Ala733Val) single nucleotide variant Episodic ataxia type 2 [RCV001468691]|not provided [RCV001762691] Chr19:13300631 [GRCh38]
Chr19:13411445 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5979G>A (p.Pro1993=) single nucleotide variant Episodic ataxia type 2 [RCV001465809]|Inborn genetic diseases [RCV002359038] Chr19:13212702 [GRCh38]
Chr19:13323516 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.979-7C>T single nucleotide variant Episodic ataxia type 2 [RCV001476551]|not specified [RCV003323888] Chr19:13335916 [GRCh38]
Chr19:13446730 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.219G>C (p.Thr73=) single nucleotide variant Episodic ataxia type 2 [RCV001402792] Chr19:13506006 [GRCh38]
Chr19:13616820 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3543C>T (p.Thr1181=) single nucleotide variant Episodic ataxia type 2 [RCV001430936] Chr19:13286513 [GRCh38]
Chr19:13397327 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6096C>A (p.Thr2032=) single nucleotide variant Episodic ataxia type 2 [RCV001467728] Chr19:13212477 [GRCh38]
Chr19:13323291 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.198C>T (p.Pro66=) single nucleotide variant Episodic ataxia type 2 [RCV001488603] Chr19:13506027 [GRCh38]
Chr19:13616841 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5094C>T (p.Ile1698=) single nucleotide variant Episodic ataxia type 2 [RCV001476839]|not provided [RCV003883661] Chr19:13235248 [GRCh38]
Chr19:13346062 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2358G>A (p.Leu786=) single nucleotide variant Episodic ataxia type 2 [RCV001486655] Chr19:13299275 [GRCh38]
Chr19:13410089 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4779T>C (p.Tyr1593=) single nucleotide variant Episodic ataxia type 2 [RCV001439456] Chr19:13253078 [GRCh38]
Chr19:13363892 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1500G>T (p.Thr500=) single nucleotide variant Episodic ataxia type 2 [RCV001479673] Chr19:13317167 [GRCh38]
Chr19:13427981 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1875C>T (p.Val625=) single nucleotide variant CACNA1A-related disorder [RCV003985500]|Episodic ataxia type 2 [RCV001474398]|not provided [RCV003416357] Chr19:13308158 [GRCh38]
Chr19:13418972 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6474C>T (p.Arg2158=) single nucleotide variant Episodic ataxia type 2 [RCV001463532]|Inborn genetic diseases [RCV002359032]|not provided [RCV001581145] Chr19:13209364 [GRCh38]
Chr19:13320178 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1881C>T (p.Phe627=) single nucleotide variant Episodic ataxia type 2 [RCV001466664] Chr19:13308152 [GRCh38]
Chr19:13418966 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2364C>T (p.Ala788=) single nucleotide variant Episodic ataxia type 2 [RCV001486763] Chr19:13299269 [GRCh38]
Chr19:13410083 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4608C>T (p.Phe1536=) single nucleotide variant Episodic ataxia type 2 [RCV001477300]|not provided [RCV002292641] Chr19:13255242 [GRCh38]
Chr19:13366056 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6513C>T (p.Thr2171=) single nucleotide variant Episodic ataxia type 2 [RCV001474447] Chr19:13209325 [GRCh38]
Chr19:13320139 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.672C>T (p.Ile224=) single nucleotide variant Episodic ataxia type 2 [RCV001492926]|not provided [RCV003426156] Chr19:13365429 [GRCh38]
Chr19:13476243 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4951-10A>C single nucleotide variant Episodic ataxia type 2 [RCV001492955] Chr19:13235740 [GRCh38]
Chr19:13346554 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4521C>A (p.Ala1507=) single nucleotide variant Episodic ataxia type 2 [RCV001522664] Chr19:13257419 [GRCh38]
Chr19:13368233 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.6159C>A (p.Thr2053=) single nucleotide variant Episodic ataxia type 2 [RCV001484432] Chr19:13212414 [GRCh38]
Chr19:13323228 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2382T>C (p.Tyr794=) single nucleotide variant Episodic ataxia type 2 [RCV001487547] Chr19:13299251 [GRCh38]
Chr19:13410065 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6636C>T (p.His2212=) single nucleotide variant Episodic ataxia type 2 [RCV001415882] Chr19:13208900 [GRCh38]
Chr19:13319714 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6340-7C>T single nucleotide variant Episodic ataxia type 2 [RCV001426670] Chr19:13209505 [GRCh38]
Chr19:13320319 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5472C>A (p.Gly1824=) single nucleotide variant Episodic ataxia type 2 [RCV001456706] Chr19:13230138 [GRCh38]
Chr19:13340952 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6360C>T (p.Pro2120=) single nucleotide variant Episodic ataxia type 2 [RCV001467303] Chr19:13209478 [GRCh38]
Chr19:13320292 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.399+1G>A single nucleotide variant Episodic ataxia type 2 [RCV001377033] Chr19:13455106 [GRCh38]
Chr19:13565920 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6371C>A (p.Ser2124Ter) single nucleotide variant Episodic ataxia type 2 [RCV001388667] Chr19:13209467 [GRCh38]
Chr19:13320281 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1026C>G (p.Pro342=) single nucleotide variant Episodic ataxia type 2 [RCV001484834] Chr19:13335862 [GRCh38]
Chr19:13446676 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.330G>T (p.Ala110=) single nucleotide variant Episodic ataxia type 2 [RCV001506522] Chr19:13455176 [GRCh38]
Chr19:13565990 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5922G>A (p.Gln1974=) single nucleotide variant Episodic ataxia type 2 [RCV001453915] Chr19:13214251 [GRCh38]
Chr19:13325065 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1255+9T>C single nucleotide variant Episodic ataxia type 2 [RCV001501847] Chr19:13332860 [GRCh38]
Chr19:13443674 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5874C>T (p.Ala1958=) single nucleotide variant Episodic ataxia type 2 [RCV001427150] Chr19:13214299 [GRCh38]
Chr19:13325113 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2586C>G (p.Ala862=) single nucleotide variant Episodic ataxia type 2 [RCV001435152] Chr19:13299047 [GRCh38]
Chr19:13409861 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1884C>A (p.Ala628=) single nucleotide variant Episodic ataxia type 2 [RCV001454070] Chr19:13308149 [GRCh38]
Chr19:13418963 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1781+7C>T single nucleotide variant Episodic ataxia type 2 [RCV001505254] Chr19:13308409 [GRCh38]
Chr19:13419223 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.831C>G (p.Pro277=) single nucleotide variant Episodic ataxia type 2 [RCV001398676] Chr19:13359753 [GRCh38]
Chr19:13470567 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3882+45del deletion not provided [RCV001538781] Chr19:13277024 [GRCh38]
Chr19:13387838 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6097C>T (p.Gln2033Ter) single nucleotide variant not provided [RCV001664990] Chr19:13212476 [GRCh38]
Chr19:13323290 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1785C>T (p.Tyr595=) single nucleotide variant Episodic ataxia type 2 [RCV001429915] Chr19:13308248 [GRCh38]
Chr19:13419062 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1680G>C (p.Gly560=) single nucleotide variant Episodic ataxia type 2 [RCV001402247] Chr19:13308517 [GRCh38]
Chr19:13419331 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3612G>A (p.Glu1204=) single nucleotide variant Episodic ataxia type 2 [RCV001443543] Chr19:13285148 [GRCh38]
Chr19:13395962 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.162G>A (p.Gln54=) single nucleotide variant Episodic ataxia type 2 [RCV001443407]|not provided [RCV001786485] Chr19:13506063 [GRCh38]
Chr19:13616877 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2884C>T (p.Arg962Cys) single nucleotide variant Episodic ataxia type 2 [RCV002568936]|not provided [RCV001540002] Chr19:13298749 [GRCh38]
Chr19:13409563 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4173C>T (p.Ala1391=) single nucleotide variant Episodic ataxia type 2 [RCV001418593] Chr19:13261527 [GRCh38]
Chr19:13372341 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4470C>T (p.Tyr1490=) single nucleotide variant Episodic ataxia type 2 [RCV001412011] Chr19:13257470 [GRCh38]
Chr19:13368284 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1395G>T (p.Ser465=) single nucleotide variant Episodic ataxia type 2 [RCV001415544] Chr19:13317272 [GRCh38]
Chr19:13428086 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4866+1G>T single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003322621]|Episodic ataxia type 2 [RCV001377850] Chr19:13252990 [GRCh38]
Chr19:13363804 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6189+74A>C single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001554421]|Episodic ataxia type 2 [RCV001554422]|Migraine, familial hemiplegic, 1 [RCV001554423]|Spinocerebellar ataxia type 6 [RCV001554424]|not provided [RCV001541421] Chr19:13212310 [GRCh38]
Chr19:13323124 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3636C>T (p.Asp1212=) single nucleotide variant Episodic ataxia type 2 [RCV001435993] Chr19:13285124 [GRCh38]
Chr19:13395938 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6340-9C>T single nucleotide variant Episodic ataxia type 2 [RCV001446730] Chr19:13209507 [GRCh38]
Chr19:13320321 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2104+10A>G single nucleotide variant Episodic ataxia type 2 [RCV001446888] Chr19:13303757 [GRCh38]
Chr19:13414571 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1256-9T>C single nucleotide variant Episodic ataxia type 2 [RCV001410143]|not provided [RCV001751758] Chr19:13330342 [GRCh38]
Chr19:13441156 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1668+10C>T single nucleotide variant Episodic ataxia type 2 [RCV001398135] Chr19:13312659 [GRCh38]
Chr19:13423473 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6690G>A (p.Gln2230=) single nucleotide variant Episodic ataxia type 2 [RCV001426824] Chr19:13208846 [GRCh38]
Chr19:13319660 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5839+10G>A single nucleotide variant CACNA1A-related disorder [RCV003985497]|Episodic ataxia type 2 [RCV001440062]|not provided [RCV001664880] Chr19:13214491 [GRCh38]
Chr19:13325305 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.493T>C (p.Leu165=) single nucleotide variant Episodic ataxia type 2 [RCV001430779] Chr19:13452922 [GRCh38]
Chr19:13563736 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3531C>T (p.Pro1177=) single nucleotide variant Episodic ataxia type 2 [RCV001439494] Chr19:13286525 [GRCh38]
Chr19:13397339 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5913G>A (p.Lys1971=) single nucleotide variant Episodic ataxia type 2 [RCV001405753] Chr19:13214260 [GRCh38]
Chr19:13325074 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1647C>T (p.Ser549=) single nucleotide variant Episodic ataxia type 2 [RCV001447325]|Inborn genetic diseases [RCV002405054] Chr19:13312690 [GRCh38]
Chr19:13423504 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6747C>T (p.Pro2249=) single nucleotide variant Episodic ataxia type 2 [RCV001441941] Chr19:13208789 [GRCh38]
Chr19:13319603 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3553+7C>G single nucleotide variant Episodic ataxia type 2 [RCV001400897] Chr19:13286496 [GRCh38]
Chr19:13397310 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2401G>T (p.Glu801Ter) single nucleotide variant Episodic ataxia type 2 [RCV001388196] Chr19:13299232 [GRCh38]
Chr19:13410046 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4170C>T (p.Phe1390=) single nucleotide variant Episodic ataxia type 2 [RCV001429400] Chr19:13261530 [GRCh38]
Chr19:13372344 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1248C>G (p.Pro416=) single nucleotide variant Episodic ataxia type 2 [RCV001444995] Chr19:13332876 [GRCh38]
Chr19:13443690 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.726C>T (p.Ile242=) single nucleotide variant Episodic ataxia type 2 [RCV001434534] Chr19:13365375 [GRCh38]
Chr19:13476189 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.540-1G>C single nucleotide variant Episodic ataxia type 2 [RCV001379527] Chr19:13371780 [GRCh38]
Chr19:13482594 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.5529-1212_5529-1211del microsatellite Episodic ataxia type 2 [RCV001390936]|Inborn genetic diseases [RCV002551581] Chr19:13228738..13228739 [GRCh38]
Chr19:13339552..13339553 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3495C>T (p.His1165=) single nucleotide variant Episodic ataxia type 2 [RCV001411074] Chr19:13286561 [GRCh38]
Chr19:13397375 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4085del (p.Leu1362fs) deletion Episodic ataxia type 2 [RCV001387640] Chr19:13262738 [GRCh38]
Chr19:13373552 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6051-4G>A single nucleotide variant Episodic ataxia type 2 [RCV001411197] Chr19:13212526 [GRCh38]
Chr19:13323340 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.678G>A (p.Leu226=) single nucleotide variant Episodic ataxia type 2 [RCV001431638] Chr19:13365423 [GRCh38]
Chr19:13476237 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1435del (p.Ile479fs) deletion Episodic ataxia type 2 [RCV001376055]|Global developmental delay [RCV002286430] Chr19:13317232 [GRCh38]
Chr19:13428046 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6159C>T (p.Thr2053=) single nucleotide variant Episodic ataxia type 2 [RCV001424115] Chr19:13212414 [GRCh38]
Chr19:13323228 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4795del (p.Val1599fs) deletion Episodic ataxia type 2 [RCV001388845] Chr19:13253062 [GRCh38]
Chr19:13363876 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6180T>C (p.Pro2060=) single nucleotide variant Episodic ataxia type 2 [RCV001448127] Chr19:13212393 [GRCh38]
Chr19:13323207 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.255C>T (p.Asn85=) single nucleotide variant Episodic ataxia type 2 [RCV001438117] Chr19:13505970 [GRCh38]
Chr19:13616784 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5732-143G>C single nucleotide variant not provided [RCV001535290] Chr19:13214751 [GRCh38]
Chr19:13325565 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.984C>T (p.Asn328=) single nucleotide variant Episodic ataxia type 2 [RCV001402853]|not provided [RCV003883627] Chr19:13335904 [GRCh38]
Chr19:13446718 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4591-5del deletion Episodic ataxia type 2 [RCV001402898] Chr19:13255264 [GRCh38]
Chr19:13366078 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6576G>A (p.Ser2192=) single nucleotide variant Episodic ataxia type 2 [RCV001411414] Chr19:13208960 [GRCh38]
Chr19:13319774 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2055C>T (p.Gly685=) single nucleotide variant Episodic ataxia type 2 [RCV001445792] Chr19:13303816 [GRCh38]
Chr19:13414630 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6339+10G>T single nucleotide variant Episodic ataxia type 2 [RCV001429865] Chr19:13210607 [GRCh38]
Chr19:13321421 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1083-68_1083-63del deletion not provided [RCV001673307] Chr19:13334556..13334561 [GRCh38]
Chr19:13445370..13445375 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5625+63dup duplication not provided [RCV001650337] Chr19:13227359..13227360 [GRCh38]
Chr19:13338173..13338174 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.3536A>G (p.Asn1179Ser) single nucleotide variant not provided [RCV001583878] Chr19:13286520 [GRCh38]
Chr19:13397334 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5401-13G>A single nucleotide variant Episodic ataxia type 2 [RCV001866176]|not provided [RCV001583892] Chr19:13230222 [GRCh38]
Chr19:13341036 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4755+100A>G single nucleotide variant not provided [RCV001725585] Chr19:13254995 [GRCh38]
Chr19:13365809 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4389-223C>T single nucleotide variant not provided [RCV001717258] Chr19:13257774 [GRCh38]
Chr19:13368588 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4591-152A>G single nucleotide variant not provided [RCV001717259] Chr19:13255411 [GRCh38]
Chr19:13366225 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5731+178_5731+180del deletion not provided [RCV001717260] Chr19:13224487..13224489 [GRCh38]
Chr19:13335301..13335303 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4617C>T (p.Ser1539=) single nucleotide variant Episodic ataxia type 2 [RCV001457928] Chr19:13255233 [GRCh38]
Chr19:13366047 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6582G>A (p.Glu2194=) single nucleotide variant Episodic ataxia type 2 [RCV001473496] Chr19:13208954 [GRCh38]
Chr19:13319768 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6666C>T (p.Pro2222=) single nucleotide variant Episodic ataxia type 2 [RCV001495459] Chr19:13208870 [GRCh38]
Chr19:13319684 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3822+253T>A single nucleotide variant not provided [RCV001593436] Chr19:13283014 [GRCh38]
Chr19:13393828 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2955G>A (p.Pro985=) single nucleotide variant Episodic ataxia type 2 [RCV001496088] Chr19:13298678 [GRCh38]
Chr19:13409492 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1071T>C (p.Gly357=) single nucleotide variant Episodic ataxia type 2 [RCV001473702] Chr19:13335817 [GRCh38]
Chr19:13446631 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3786C>T (p.Ala1262=) single nucleotide variant Episodic ataxia type 2 [RCV001490989] Chr19:13283303 [GRCh38]
Chr19:13394117 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.531G>T (p.Val177=) single nucleotide variant Episodic ataxia type 2 [RCV001454778] Chr19:13452884 [GRCh38]
Chr19:13563698 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.885C>T (p.Asn295=) single nucleotide variant Episodic ataxia type 2 [RCV001454803] Chr19:13359699 [GRCh38]
Chr19:13470513 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3195T>C (p.Ile1065=) single nucleotide variant Episodic ataxia type 2 [RCV001473871] Chr19:13286861 [GRCh38]
Chr19:13397675 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3724C>T (p.Leu1242=) single nucleotide variant Episodic ataxia type 2 [RCV001465319]|Inborn genetic diseases [RCV002350944] Chr19:13283365 [GRCh38]
Chr19:13394179 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5941-109GT[12] microsatellite not provided [RCV001717214] Chr19:13212827..13212828 [GRCh38]
Chr19:13323641..13323642 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.1083-104C>A single nucleotide variant not provided [RCV001717255] Chr19:13334597 [GRCh38]
Chr19:13445411 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2658C>T (p.Ser886=) single nucleotide variant Episodic ataxia type 2 [RCV001506900] Chr19:13298975 [GRCh38]
Chr19:13409789 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2028G>A (p.Gly676=) single nucleotide variant Episodic ataxia type 2 [RCV001474130]|not provided [RCV003334054] Chr19:13303843 [GRCh38]
Chr19:13414657 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5493C>T (p.Tyr1831=) single nucleotide variant Episodic ataxia type 2 [RCV001459281]|not provided [RCV001587422] Chr19:13230117 [GRCh38]
Chr19:13340931 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5667C>T (p.Thr1889=) single nucleotide variant Episodic ataxia type 2 [RCV001476682] Chr19:13224731 [GRCh38]
Chr19:13335545 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1035C>A (p.Ile345=) single nucleotide variant not provided [RCV001665170] Chr19:13335853 [GRCh38]
Chr19:13446667 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6739C>T (p.Arg2247Cys) single nucleotide variant Episodic ataxia type 2 [RCV003771795]|not provided [RCV001592319] Chr19:13208797 [GRCh38]
Chr19:13319611 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3402C>T (p.Pro1134=) single nucleotide variant Episodic ataxia type 2 [RCV001497153] Chr19:13286654 [GRCh38]
Chr19:13397468 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5067+10C>T single nucleotide variant Episodic ataxia type 2 [RCV001459935] Chr19:13235604 [GRCh38]
Chr19:13346418 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.411A>G (p.Glu137=) single nucleotide variant Episodic ataxia type 2 [RCV001487635] Chr19:13453004 [GRCh38]
Chr19:13563818 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5840-7C>T single nucleotide variant Episodic ataxia type 2 [RCV001452511]|not provided [RCV001555716]|not specified [RCV001664885] Chr19:13214340 [GRCh38]
Chr19:13325154 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-1076C>A single nucleotide variant not provided [RCV001654017] Chr19:13228603 [GRCh38]
Chr19:13339417 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2172+7G>T single nucleotide variant Episodic ataxia type 2 [RCV001460237] Chr19:13303539 [GRCh38]
Chr19:13414353 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-1078CT[8] microsatellite not provided [RCV001587083] Chr19:13228591..13228592 [GRCh38]
Chr19:13339405..13339406 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1950C>T (p.Phe650=) single nucleotide variant Episodic ataxia type 2 [RCV001453054] Chr19:13307818 [GRCh38]
Chr19:13418632 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2730G>A (p.Leu910=) single nucleotide variant Episodic ataxia type 2 [RCV001481089] Chr19:13298903 [GRCh38]
Chr19:13409717 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del) microsatellite Episodic ataxia type 2 [RCV002477868]|not provided [RCV001649856] Chr19:13207859..13207876 [GRCh38]
Chr19:13318673..13318690 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4174G>T (p.Val1392Leu) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001706925]|Episodic ataxia type 2 [RCV003771862] Chr19:13261526 [GRCh38]
Chr19:13372340 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.5907G>A (p.Lys1969=) single nucleotide variant Episodic ataxia type 2 [RCV001501515] Chr19:13214266 [GRCh38]
Chr19:13325080 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5731+162dup duplication not provided [RCV001592187] Chr19:13224486..13224487 [GRCh38]
Chr19:13335300..13335301 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3414G>A (p.Lys1138=) single nucleotide variant Episodic ataxia type 2 [RCV001471761] Chr19:13286642 [GRCh38]
Chr19:13397456 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3883-5C>T single nucleotide variant Episodic ataxia type 2 [RCV001456973]|not provided [RCV001815555] Chr19:13275961 [GRCh38]
Chr19:13386775 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6585G>C (p.Arg2195=) single nucleotide variant Episodic ataxia type 2 [RCV001467466] Chr19:13208951 [GRCh38]
Chr19:13319765 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4866+273C>T single nucleotide variant not provided [RCV001590609] Chr19:13252718 [GRCh38]
Chr19:13363532 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5840-2A>T single nucleotide variant Episodic ataxia type 2 [RCV001378180] Chr19:13214335 [GRCh38]
Chr19:13325149 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6190-5C>T single nucleotide variant Episodic ataxia type 2 [RCV001477411] Chr19:13212221 [GRCh38]
Chr19:13323035 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5760T>C (p.Ala1920=) single nucleotide variant Episodic ataxia type 2 [RCV001450440] Chr19:13214580 [GRCh38]
Chr19:13325394 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.438C>T (p.Phe146=) single nucleotide variant Episodic ataxia type 2 [RCV001424932] Chr19:13452977 [GRCh38]
Chr19:13563791 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5814A>T (p.Leu1938=) single nucleotide variant Episodic ataxia type 2 [RCV001419156] Chr19:13214526 [GRCh38]
Chr19:13325340 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1848G>A (p.Leu616=) single nucleotide variant Episodic ataxia type 2 [RCV001465534] Chr19:13308185 [GRCh38]
Chr19:13418999 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2671C>T (p.Leu891=) single nucleotide variant Episodic ataxia type 2 [RCV001490595] Chr19:13298962 [GRCh38]
Chr19:13409776 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3702C>T (p.Arg1234=) single nucleotide variant Episodic ataxia type 2 [RCV001496007] Chr19:13283387 [GRCh38]
Chr19:13394201 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3264C>T (p.Ala1088=) single nucleotide variant CACNA1A-related disorder [RCV003985499]|Episodic ataxia type 2 [RCV001467321]|not provided [RCV003426120] Chr19:13286792 [GRCh38]
Chr19:13397606 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2805G>T (p.Arg935=) single nucleotide variant Episodic ataxia type 2 [RCV001487883] Chr19:13298828 [GRCh38]
Chr19:13409642 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5840-15TG[5] microsatellite Episodic ataxia type 2 [RCV001516729] Chr19:13214340..13214341 [GRCh38]
Chr19:13325154..13325155 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2289A>G (p.Gln763=) single nucleotide variant Episodic ataxia type 2 [RCV001467424] Chr19:13299344 [GRCh38]
Chr19:13410158 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2172+7G>C single nucleotide variant Episodic ataxia type 2 [RCV001406301] Chr19:13303539 [GRCh38]
Chr19:13414353 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.180A>C (p.Ala60=) single nucleotide variant Episodic ataxia type 2 [RCV001501996] Chr19:13506045 [GRCh38]
Chr19:13616859 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.969C>T (p.Leu323=) single nucleotide variant Episodic ataxia type 2 [RCV001476231] Chr19:13359615 [GRCh38]
Chr19:13470429 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.318C>T (p.Ala106=) single nucleotide variant Episodic ataxia type 2 [RCV001510762]|not provided [RCV001655739] Chr19:13455188 [GRCh38]
Chr19:13566002 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.2640G>C (p.Arg880=) single nucleotide variant Episodic ataxia type 2 [RCV001457853] Chr19:13298993 [GRCh38]
Chr19:13409807 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6527-5C>T single nucleotide variant Episodic ataxia type 2 [RCV001406657] Chr19:13209014 [GRCh38]
Chr19:13319828 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2742G>A (p.Gly914=) single nucleotide variant Episodic ataxia type 2 [RCV001498664] Chr19:13298891 [GRCh38]
Chr19:13409705 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4250+10C>T single nucleotide variant Episodic ataxia type 2 [RCV001455831] Chr19:13261440 [GRCh38]
Chr19:13372254 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6132A>G (p.Thr2044=) single nucleotide variant Episodic ataxia type 2 [RCV001467707] Chr19:13212441 [GRCh38]
Chr19:13323255 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.339C>T (p.Ile113=) single nucleotide variant Episodic ataxia type 2 [RCV001499304] Chr19:13455167 [GRCh38]
Chr19:13565981 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1209C>T (p.Ile403=) single nucleotide variant Episodic ataxia type 2 [RCV001462002] Chr19:13332915 [GRCh38]
Chr19:13443729 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5839+7G>A single nucleotide variant Episodic ataxia type 2 [RCV001451869] Chr19:13214494 [GRCh38]
Chr19:13325308 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4791G>A (p.Leu1597=) single nucleotide variant Episodic ataxia type 2 [RCV001461406] Chr19:13253066 [GRCh38]
Chr19:13363880 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6780+9G>A single nucleotide variant Episodic ataxia type 2 [RCV001485125] Chr19:13208747 [GRCh38]
Chr19:13319561 [GRCh37]
Chr19:19p13.13		 likely benign
NC_000019.9:g.(?_13474954)_13476240del deletion Episodic ataxia type 2 [RCV001378917]   likely pathogenic
NM_001127222.2(CACNA1A):c.4514T>C (p.Phe1505Ser) single nucleotide variant Episodic ataxia type 2 [RCV001380077] Chr19:13257426 [GRCh38]
Chr19:13368240 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5784G>A (p.Ala1928=) single nucleotide variant Episodic ataxia type 2 [RCV001401891] Chr19:13214556 [GRCh38]
Chr19:13325370 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6526+7A>G single nucleotide variant Episodic ataxia type 2 [RCV001461675] Chr19:13209305 [GRCh38]
Chr19:13320119 [GRCh37]
Chr19:19p13.13		 likely benign
NC_000019.9:g.(?_13340886)_(13342684_?)del deletion Episodic ataxia type 2 [RCV001378915] Chr19:13340886..13342684 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NC_000019.9:g.(?_13445172)_(13446743_?)dup duplication Episodic ataxia type 2 [RCV001378916] Chr19:13445172..13446743 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001127222.2(CACNA1A):c.4756-4C>T single nucleotide variant Episodic ataxia type 2 [RCV001393578] Chr19:13253105 [GRCh38]
Chr19:13363919 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5163G>A (p.Glu1721=) single nucleotide variant Episodic ataxia type 2 [RCV001424046] Chr19:13235007 [GRCh38]
Chr19:13345821 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2187A>G (p.Glu729=) single nucleotide variant Episodic ataxia type 2 [RCV001398206] Chr19:13300642 [GRCh38]
Chr19:13411456 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.321C>T (p.Thr107=) single nucleotide variant Episodic ataxia type 2 [RCV001517728] Chr19:13455185 [GRCh38]
Chr19:13565999 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.539+9C>A single nucleotide variant Episodic ataxia type 2 [RCV001418378] Chr19:13452867 [GRCh38]
Chr19:13563681 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3303C>T (p.Thr1101=) single nucleotide variant Episodic ataxia type 2 [RCV001468021] Chr19:13286753 [GRCh38]
Chr19:13397567 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5249+8G>C single nucleotide variant Episodic ataxia type 2 [RCV001426519] Chr19:13234913 [GRCh38]
Chr19:13345727 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.979-5T>A single nucleotide variant Episodic ataxia type 2 [RCV001428083] Chr19:13335914 [GRCh38]
Chr19:13446728 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3006_3007delinsCT (p.Arg1002_Arg1003delinsSerTer) indel Episodic ataxia type 2 [RCV001389685] Chr19:13298626..13298627 [GRCh38]
Chr19:13409440..13409441 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3345C>T (p.Asn1115=) single nucleotide variant Episodic ataxia type 2 [RCV001437418] Chr19:13286711 [GRCh38]
Chr19:13397525 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4530C>T (p.Ile1510=) single nucleotide variant Episodic ataxia type 2 [RCV001424695] Chr19:13257410 [GRCh38]
Chr19:13368224 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6780+8C>T single nucleotide variant Episodic ataxia type 2 [RCV001485521] Chr19:13208748 [GRCh38]
Chr19:13319562 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.807G>A (p.Pro269=) single nucleotide variant Episodic ataxia type 2 [RCV001459977]|not provided [RCV001587423] Chr19:13359777 [GRCh38]
Chr19:13470591 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.560C>T (p.Thr187Met) single nucleotide variant Episodic ataxia type 2 [RCV002032689]|not provided [RCV001727074] Chr19:13371759 [GRCh38]
Chr19:13482573 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2720A>G (p.Glu907Gly) single nucleotide variant not specified [RCV002247876] Chr19:13298913 [GRCh38]
Chr19:13409727 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5720A>G (p.Lys1907Arg) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002243579] Chr19:13224678 [GRCh38]
Chr19:13335492 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6791C>T (p.Ser2264Phe) single nucleotide variant not provided [RCV001732340] Chr19:13208043 [GRCh38]
Chr19:13318857 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6901C>G (p.Pro2301Ala) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001731118] Chr19:13207933 [GRCh38]
Chr19:13318747 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127221.2(CACNA1A):c.2900_2925dup (p.Ala978fs) duplication not provided [RCV002255223] Chr19:13298710..13298711 [GRCh38]
Chr19:13409524..13409525 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6839G>T (p.Arg2280Leu) single nucleotide variant not provided [RCV002280302] Chr19:13207995 [GRCh38]
Chr19:13318809 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5803C>A (p.Gln1935Lys) single nucleotide variant Episodic ataxia type 2 [RCV001868548]|not provided [RCV001755048] Chr19:13214537 [GRCh38]
Chr19:13325351 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.72C>T (p.Val24=) single nucleotide variant not provided [RCV001727075] Chr19:13506153 [GRCh38]
Chr19:13616967 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met) single nucleotide variant Episodic ataxia type 2 [RCV002227406]|Episodic ataxia type 2 [RCV003089220] Chr19:13303581 [GRCh38]
Chr19:13414395 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del) deletion Episodic ataxia type 2 [RCV002227408] Chr19:13303837..13303854 [GRCh38]
Chr19:13414651..13414668 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser) single nucleotide variant Episodic ataxia type 2 [RCV002227409] Chr19:13308183 [GRCh38]
Chr19:13418997 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.5529-1257A>G single nucleotide variant not provided [RCV001756282] Chr19:13228784 [GRCh38]
Chr19:13339598 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2369G>A (p.Arg790Gln) single nucleotide variant not provided [RCV001754805] Chr19:13299264 [GRCh38]
Chr19:13410078 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.428T>A (p.Ile143Asn) single nucleotide variant not provided [RCV001754843] Chr19:13452987 [GRCh38]
Chr19:13563801 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1655G>T (p.Cys552Phe) single nucleotide variant not provided [RCV001754965] Chr19:13312682 [GRCh38]
Chr19:13423496 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6599G>A (p.Gly2200Asp) single nucleotide variant not provided [RCV001754887] Chr19:13208937 [GRCh38]
Chr19:13319751 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6147_6163del (p.Gln2049fs) deletion not provided [RCV001732916] Chr19:13212410..13212426 [GRCh38]
Chr19:13323224..13323240 [GRCh37]
Chr19:19p13.13		 pathogenic
NC_000019.9:g.(?_10828919)_(13482613_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate B [RCV003109233]|Deficiency of alpha-mannosidase [RCV003109232]|Episodic ataxia type 2 [RCV003109234]|Glutaric aciduria, type 1 [RCV003122092] Chr19:10828919..13482613 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001127222.2(CACNA1A):c.6922G>A (p.Gly2308Ser) single nucleotide variant Inborn genetic diseases [RCV003094125]|See cases [RCV002253119]|not provided [RCV003426369]|not specified [RCV003324007] Chr19:13207912 [GRCh38]
Chr19:13318726 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5529-1263G>A single nucleotide variant Episodic ataxia type 2 [RCV003101398]|Inborn genetic diseases [RCV003094186]|not provided [RCV002255194] Chr19:13228790 [GRCh38]
Chr19:13339604 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1439G>A (p.Arg480His) single nucleotide variant Episodic ataxia type 2 [RCV003772016]|not provided [RCV001761193] Chr19:13317228 [GRCh38]
Chr19:13428042 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6051-7C>G single nucleotide variant Episodic ataxia type 2 [RCV003771969]|not provided [RCV001772627] Chr19:13212529 [GRCh38]
Chr19:13323343 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2932C>T (p.Arg978Trp) single nucleotide variant Episodic ataxia type 2 [RCV001861096]|Inborn genetic diseases [RCV002440853]|not provided [RCV001767275] Chr19:13298701 [GRCh38]
Chr19:13409515 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4646A>G (p.Gln1549Arg) single nucleotide variant not provided [RCV001772376] Chr19:13255204 [GRCh38]
Chr19:13366018 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4276A>G (p.Asn1426Asp) single nucleotide variant not provided [RCV001772516] Chr19:13259676 [GRCh38]
Chr19:13370490 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2875C>T (p.Arg959Cys) single nucleotide variant not provided [RCV001772603] Chr19:13298758 [GRCh38]
Chr19:13409572 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1951G>T (p.Asp651Tyr) single nucleotide variant not provided [RCV001770659] Chr19:13307817 [GRCh38]
Chr19:13418631 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3625C>T (p.Arg1209Cys) single nucleotide variant Episodic ataxia type 2 [RCV003107842]|not provided [RCV001770696] Chr19:13285135 [GRCh38]
Chr19:13395949 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1213C>G single nucleotide variant not provided [RCV001770720] Chr19:13228740 [GRCh38]
Chr19:13339554 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.751A>G (p.Lys251Glu) single nucleotide variant not provided [RCV001770844] Chr19:13365350 [GRCh38]
Chr19:13476164 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1582C>T (p.Leu528Phe) single nucleotide variant not provided [RCV001763602] Chr19:13312755 [GRCh38]
Chr19:13423569 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2773G>A (p.Ala925Thr) single nucleotide variant not provided [RCV001772721] Chr19:13298860 [GRCh38]
Chr19:13409674 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1996G>A (p.Gly666Ser) single nucleotide variant not provided [RCV001772876] Chr19:13303875 [GRCh38]
Chr19:13414689 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1396A>G (p.Thr466Ala) single nucleotide variant not provided [RCV001764846] Chr19:13317271 [GRCh38]
Chr19:13428085 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3925C>T (p.Arg1309Cys) single nucleotide variant not provided [RCV001771119] Chr19:13275914 [GRCh38]
Chr19:13386728 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1996G>C (p.Gly666Arg) single nucleotide variant not provided [RCV001767268] Chr19:13303875 [GRCh38]
Chr19:13414689 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.109C>G (p.Arg37Gly) single nucleotide variant not provided [RCV001767299] Chr19:13506116 [GRCh38]
Chr19:13616930 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5455G>A (p.Asp1819Asn) single nucleotide variant not provided [RCV001765031] Chr19:13230155 [GRCh38]
Chr19:13340969 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4975C>T (p.Leu1659Phe) single nucleotide variant not provided [RCV001765077] Chr19:13235706 [GRCh38]
Chr19:13346520 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1267G>A single nucleotide variant Episodic ataxia type 2 [RCV001868511]|not provided [RCV001752404] Chr19:13228794 [GRCh38]
Chr19:13339608 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6406G>C (p.Asp2136His) single nucleotide variant not provided [RCV001733070] Chr19:13209432 [GRCh38]
Chr19:13320246 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6326G>A (p.Gly2109Glu) single nucleotide variant Episodic ataxia type 2 [RCV001868438]|not provided [RCV001763587] Chr19:13210630 [GRCh38]
Chr19:13321444 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1072G>A (p.Val358Met) single nucleotide variant not provided [RCV001752467] Chr19:13335816 [GRCh38]
Chr19:13446630 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.5529-1222T>C single nucleotide variant Episodic ataxia type 2 [RCV002539145]|not provided [RCV001752610] Chr19:13228749 [GRCh38]
Chr19:13339563 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6368G>A (p.Arg2123His) single nucleotide variant Episodic ataxia type 2 [RCV001868488]|not provided [RCV001767723] Chr19:13209470 [GRCh38]
Chr19:13320284 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7445T>G (p.Leu2482Arg) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001784091] Chr19:13207389 [GRCh38]
Chr19:13318203 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3416C>T (p.Thr1139Ile) single nucleotide variant not provided [RCV001763881] Chr19:13286640 [GRCh38]
Chr19:13397454 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2936_2938dup (p.His979dup) duplication not provided [RCV001767845] Chr19:13298694..13298695 [GRCh38]
Chr19:13409508..13409509 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5253T>G (p.Ser1751Arg) single nucleotide variant not provided [RCV001774247] Chr19:13231857 [GRCh38]
Chr19:13342671 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4142T>C (p.Ile1381Thr) single nucleotide variant not provided [RCV001754498] Chr19:13261558 [GRCh38]
Chr19:13372372 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4916G>A (p.Gly1639Asp) single nucleotide variant not provided [RCV001786096] Chr19:13245216 [GRCh38]
Chr19:13356030 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1822A>T (p.Asn608Tyr) single nucleotide variant not provided [RCV001786121] Chr19:13308211 [GRCh38]
Chr19:13419025 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3479C>T (p.Ala1160Val) single nucleotide variant Episodic ataxia type 2 [RCV001868641]|not provided [RCV001764096] Chr19:13286577 [GRCh38]
Chr19:13397391 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6065G>A (p.Ser2022Asn) single nucleotide variant Episodic ataxia type 2 [RCV003772045]|not provided [RCV001765835] Chr19:13212508 [GRCh38]
Chr19:13323322 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1233T>C single nucleotide variant not provided [RCV001800103] Chr19:13228760 [GRCh38]
Chr19:13339574 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1061T>A (p.Leu354His) single nucleotide variant not provided [RCV001767614] Chr19:13335827 [GRCh38]
Chr19:13446641 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3797T>C (p.Val1266Ala) single nucleotide variant not provided [RCV001800145] Chr19:13283292 [GRCh38]
Chr19:13394106 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4549G>A (p.Gly1517Arg) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001775442] Chr19:13257391 [GRCh38]
Chr19:13368205 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6323G>A (p.Arg2108His) single nucleotide variant Episodic ataxia type 2 [RCV002543985]|not provided [RCV001773836] Chr19:13210633 [GRCh38]
Chr19:13321447 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3075G>T (p.Arg1025Ser) single nucleotide variant not provided [RCV001752376] Chr19:13298558 [GRCh38]
Chr19:13409372 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3061G>A (p.Asp1021Asn) single nucleotide variant not provided [RCV001752196] Chr19:13298572 [GRCh38]
Chr19:13409386 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2144A>G (p.Asn715Ser) single nucleotide variant not provided [RCV001774170] Chr19:13303574 [GRCh38]
Chr19:13414388 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2492G>C (p.Arg831Pro) single nucleotide variant Episodic ataxia type 2 [RCV002540514]|not provided [RCV001769450] Chr19:13299141 [GRCh38]
Chr19:13409955 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6701del (p.Asp2234fs) deletion not provided [RCV001769480] Chr19:13208835 [GRCh38]
Chr19:13319649 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2809G>C (p.Gly937Arg) single nucleotide variant Episodic ataxia type 2 [RCV001882896]|not provided [RCV001756812] Chr19:13298824 [GRCh38]
Chr19:13409638 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1870A>G (p.Ile624Val) single nucleotide variant not provided [RCV001765480] Chr19:13308163 [GRCh38]
Chr19:13418977 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1643C>G (p.Ser548Cys) single nucleotide variant not provided [RCV001765221] Chr19:13312694 [GRCh38]
Chr19:13423508 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2939G>A (p.Arg980His) single nucleotide variant not provided [RCV001770587] Chr19:13298694 [GRCh38]
Chr19:13409508 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6696dup (p.Pro2233fs) duplication not provided [RCV001768793] Chr19:13208839..13208840 [GRCh38]
Chr19:13319653..13319654 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5182G>A (p.Asp1728Asn) single nucleotide variant Episodic ataxia type 2 [RCV002544152]|not provided [RCV001765808] Chr19:13234988 [GRCh38]
Chr19:13345802 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1885C>A (p.Leu629Ile) single nucleotide variant not provided [RCV001761108] Chr19:13308148 [GRCh38]
Chr19:13418962 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5971G>C (p.Glu1991Gln) single nucleotide variant not provided [RCV001752794] Chr19:13212710 [GRCh38]
Chr19:13323524 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2828G>A (p.Arg943His) single nucleotide variant not provided [RCV001774631] Chr19:13298805 [GRCh38]
Chr19:13409619 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2074T>C (p.Tyr692His) single nucleotide variant not provided [RCV001754047] Chr19:13303797 [GRCh38]
Chr19:13414611 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3770G>A (p.Ser1257Asn) single nucleotide variant not provided [RCV001765690] Chr19:13283319 [GRCh38]
Chr19:13394133 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3101G>A (p.Gly1034Asp) single nucleotide variant Episodic ataxia type 2 [RCV003772037]|not provided [RCV001771151] Chr19:13286955 [GRCh38]
Chr19:13397769 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6272C>T (p.Ala2091Val) single nucleotide variant not provided [RCV001754069] Chr19:13212134 [GRCh38]
Chr19:13322948 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5015G>A (p.Arg1672His) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001810309]|not provided [RCV001766896] Chr19:13235666 [GRCh38]
Chr19:13346480 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5702G>A (p.Arg1901His) single nucleotide variant CACNA1A-related disorder [RCV003985517]|not provided [RCV001771288] Chr19:13224696 [GRCh38]
Chr19:13335510 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.2807A>T (p.Gln936Leu) single nucleotide variant not provided [RCV001771380] Chr19:13298826 [GRCh38]
Chr19:13409640 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6515A>G (p.Asp2172Gly) single nucleotide variant not provided [RCV001758532] Chr19:13209323 [GRCh38]
Chr19:13320137 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys) single nucleotide variant Episodic ataxia type 2 [RCV002034491]|not provided [RCV001763278] Chr19:13235703 [GRCh38]
Chr19:13346517 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.6081C>A (p.Ser2027Arg) single nucleotide variant not provided [RCV001763480] Chr19:13212492 [GRCh38]
Chr19:13323306 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5453G>C (p.Arg1818Pro) single nucleotide variant not provided [RCV001732843] Chr19:13230157 [GRCh38]
Chr19:13340971 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5897G>T (p.Arg1966Leu) single nucleotide variant not provided [RCV001786855] Chr19:13214276 [GRCh38]
Chr19:13325090 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4471G>T (p.Val1491Phe) single nucleotide variant CACNA1A-related disorder [RCV003985519] Chr19:13257469 [GRCh38]
Chr19:13368283 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.853A>C (p.Thr285Pro) single nucleotide variant not provided [RCV001757202] Chr19:13359731 [GRCh38]
Chr19:13470545 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4643C>T (p.Pro1548Leu) single nucleotide variant not provided [RCV001757090] Chr19:13255207 [GRCh38]
Chr19:13366021 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2796C>A (p.His932Gln) single nucleotide variant CACNA1A-related disorder [RCV003985520] Chr19:13298837 [GRCh38]
Chr19:13409651 [GRCh37]
Chr19:19p13.13		 uncertain significance
GRCh37/hg19 19p13.2(chr19:13374979-13388396)x1 copy number loss not provided [RCV001795538] Chr19:13374979..13388396 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001127222.2(CACNA1A):c.5939A>C (p.Gln1980Pro) single nucleotide variant Episodic ataxia type 2 [RCV001787693] Chr19:13214234 [GRCh38]
Chr19:13325048 [GRCh37]
Chr19:19p13.13		 not provided
NM_001127222.2(CACNA1A):c.7249G>T (p.Glu2417Ter) single nucleotide variant Cerebral palsy [RCV001796577] Chr19:13207585 [GRCh38]
Chr19:13318399 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.4726G>A (p.Ala1576Thr) single nucleotide variant Episodic ataxia type 2 [RCV003772190]|not provided [RCV001797389] Chr19:13255124 [GRCh38]
Chr19:13365938 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) single nucleotide variant Episodic ataxia type 2 [RCV001882838]|not provided [RCV001758187] Chr19:13303845 [GRCh38]
Chr19:13414659 [GRCh37]
Chr19:19p13.13		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001127222.2(CACNA1A):c.1914-1G>A single nucleotide variant Neurodevelopmental abnormality [RCV001733809] Chr19:13307855 [GRCh38]
Chr19:13418669 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.5250-27G>A single nucleotide variant not provided [RCV001733116] Chr19:13231887 [GRCh38]
Chr19:13342701 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.270C>T (p.Tyr90=) single nucleotide variant Episodic ataxia type 2 [RCV002074002]|not provided [RCV001758072] Chr19:13505955 [GRCh38]
Chr19:13616769 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5133+5G>A single nucleotide variant Episodic ataxia type 2 [RCV002290747]|Episodic ataxia type 2 [RCV002540431]|not provided [RCV001752648] Chr19:13235204 [GRCh38]
Chr19:13346018 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7160G>A (p.Gly2387Glu) single nucleotide variant not provided [RCV001754938] Chr19:13207674 [GRCh38]
Chr19:13318488 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6542T>C (p.Leu2181Pro) single nucleotide variant Episodic ataxia type 2 [RCV003772005]|not provided [RCV001758559] Chr19:13208994 [GRCh38]
Chr19:13319808 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6658_6669del (p.Pro2220_Pro2223del) deletion not specified [RCV001815134] Chr19:13208867..13208878 [GRCh38]
Chr19:13319681..13319692 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2352G>C (p.Gln784His) single nucleotide variant Episodic ataxia type 2 [RCV002542358]|not provided [RCV001806526] Chr19:13299281 [GRCh38]
Chr19:13410095 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5659G>T (p.Asp1887Tyr) single nucleotide variant not provided [RCV001806569] Chr19:13224739 [GRCh38]
Chr19:13335553 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7378_7402del (p.Pro2460fs) deletion not provided [RCV001816232] Chr19:13207432..13207456 [GRCh38]
Chr19:13318246..13318270 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4765del (p.Ala1589fs) deletion not provided [RCV001816233] Chr19:13253092 [GRCh38]
Chr19:13363906 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.5213T>C (p.Phe1738Ser) single nucleotide variant not provided [RCV003234116]|not specified [RCV001815139] Chr19:13234957 [GRCh38]
Chr19:13345771 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr) single nucleotide variant Episodic ataxia type 2 [RCV002542463]|not provided [RCV003146244]|not specified [RCV001815092] Chr19:13300574 [GRCh38]
Chr19:13411388 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3280C>T (p.Pro1094Ser) single nucleotide variant not provided [RCV001806613] Chr19:13286776 [GRCh38]
Chr19:13397590 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.165A>G (p.Arg55=) single nucleotide variant not provided [RCV001806674] Chr19:13506060 [GRCh38]
Chr19:13616874 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4043G>C (p.Arg1348Pro) single nucleotide variant not provided [RCV001822134] Chr19:13262780 [GRCh38]
Chr19:13373594 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.5636G>A (p.Arg1879Gln) single nucleotide variant Episodic ataxia type 2 [RCV001964303]|not provided [RCV003229078] Chr19:13224762 [GRCh38]
Chr19:13335576 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6292G>C (p.Ala2098Pro) single nucleotide variant Episodic ataxia type 2 [RCV002001447] Chr19:13212114 [GRCh38]
Chr19:13322928 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2856C>A (p.Asp952Glu) single nucleotide variant Episodic ataxia type 2 [RCV001888940] Chr19:13298777 [GRCh38]
Chr19:13409591 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1231G>A (p.Gly411Arg) single nucleotide variant Episodic ataxia type 2 [RCV002040021]|Inborn genetic diseases [RCV004038949] Chr19:13332893 [GRCh38]
Chr19:13443707 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4462A>T (p.Ile1488Phe) single nucleotide variant Episodic ataxia type 2 [RCV001967726] Chr19:13257478 [GRCh38]
Chr19:13368292 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5651T>A (p.Val1884Asp) single nucleotide variant Spinocerebellar ataxia type 6 [RCV001849207] Chr19:13224747 [GRCh38]
Chr19:13335561 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2345G>C (p.Arg782Pro) single nucleotide variant Spinocerebellar ataxia type 6 [RCV001849210] Chr19:13299288 [GRCh38]
Chr19:13410102 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6209T>C (p.Met2070Thr) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001823627] Chr19:13212197 [GRCh38]
Chr19:13323011 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5521G>C (p.Ala1841Pro) single nucleotide variant Episodic ataxia type 2 [RCV001896209] Chr19:13230089 [GRCh38]
Chr19:13340903 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4592G>A (p.Arg1531Lys) single nucleotide variant Episodic ataxia type 2 [RCV002009226] Chr19:13255258 [GRCh38]
Chr19:13366072 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5635C>T (p.Arg1879Trp) single nucleotide variant Episodic ataxia type 2 [RCV002025028]|not provided [RCV002463089] Chr19:13224763 [GRCh38]
Chr19:13335577 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1615G>A (p.Gly539Arg) single nucleotide variant Episodic ataxia type 2 [RCV002008523]|not provided [RCV003313258] Chr19:13312722 [GRCh38]
Chr19:13423536 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.5104TTC[1] (p.Phe1703del) microsatellite Episodic ataxia type 2 [RCV001988634] Chr19:13235233..13235235 [GRCh38]
Chr19:13346047..13346049 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.26C>T (p.Pro9Leu) single nucleotide variant Episodic ataxia type 2 [RCV001988476]|not provided [RCV002077351] Chr19:13506199 [GRCh38]
Chr19:13617013 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1242G>T (p.Arg414Ser) single nucleotide variant Episodic ataxia type 2 [RCV001930031] Chr19:13332882 [GRCh38]
Chr19:13443696 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2532C>T (p.Thr844=) single nucleotide variant Episodic ataxia type 2 [RCV001946860]|Inborn genetic diseases [RCV002458884] Chr19:13299101 [GRCh38]
Chr19:13409915 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6051-3C>A single nucleotide variant Episodic ataxia type 2 [RCV001985908] Chr19:13212525 [GRCh38]
Chr19:13323339 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5940+15G>C single nucleotide variant Episodic ataxia type 2 [RCV002008258] Chr19:13214218 [GRCh38]
Chr19:13325032 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.379A>G (p.Thr127Ala) single nucleotide variant Episodic ataxia type 2 [RCV001927247] Chr19:13455127 [GRCh38]
Chr19:13565941 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3277_3283del (p.Ser1093fs) deletion Episodic ataxia type 2 [RCV001908243] Chr19:13286773..13286779 [GRCh38]
Chr19:13397587..13397593 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2564A>C (p.Glu855Ala) single nucleotide variant Episodic ataxia type 2 [RCV001872472]|not provided [RCV003222352] Chr19:13299069 [GRCh38]
Chr19:13409883 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6190-8C>G single nucleotide variant Episodic ataxia type 2 [RCV001891946] Chr19:13212224 [GRCh38]
Chr19:13323038 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5167G>A (p.Glu1723Lys) single nucleotide variant Episodic ataxia type 2 [RCV002023410] Chr19:13235003 [GRCh38]
Chr19:13345817 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2850C>T (p.Gly950=) single nucleotide variant Episodic ataxia type 2 [RCV001873107] Chr19:13298783 [GRCh38]
Chr19:13409597 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6247C>T (p.Pro2083Ser) single nucleotide variant Episodic ataxia type 2 [RCV001892120]|not provided [RCV002225947] Chr19:13212159 [GRCh38]
Chr19:13322973 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.399G>C (p.Leu133=) single nucleotide variant Episodic ataxia type 2 [RCV001929831] Chr19:13455107 [GRCh38]
Chr19:13565921 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2624C>T (p.Ala875Val) single nucleotide variant Episodic ataxia type 2 [RCV001969435] Chr19:13299009 [GRCh38]
Chr19:13409823 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4772T>C (p.Val1591Ala) single nucleotide variant Episodic ataxia type 2 [RCV002024573] Chr19:13253085 [GRCh38]
Chr19:13363899 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6757C>T (p.Arg2253Ter) single nucleotide variant Episodic ataxia type 2 [RCV001864241] Chr19:13208779 [GRCh38]
Chr19:13319593 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3529C>G (p.Pro1177Ala) single nucleotide variant Episodic ataxia type 2 [RCV002045414]|not provided [RCV003154057] Chr19:13286527 [GRCh38]
Chr19:13397341 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.97G>T (p.Ala33Ser) single nucleotide variant Episodic ataxia type 2 [RCV002025881] Chr19:13506128 [GRCh38]
Chr19:13616942 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2752G>T (p.Gly918Cys) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001843393] Chr19:13298881 [GRCh38]
Chr19:13409695 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2381A>T (p.Tyr794Phe) single nucleotide variant Episodic ataxia type 2 [RCV001969548] Chr19:13299252 [GRCh38]
Chr19:13410066 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2473G>A (p.Val825Met) single nucleotide variant Episodic ataxia type 2 [RCV002008458] Chr19:13299160 [GRCh38]
Chr19:13409974 [GRCh37]
Chr19:19p13.13		 uncertain significance
GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1 copy number loss not provided [RCV001834482] Chr19:12697728..14111313 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
NM_001127222.2(CACNA1A):c.601C>T (p.Arg201Trp) single nucleotide variant Episodic ataxia type 2 [RCV001896526] Chr19:13371718 [GRCh38]
Chr19:13482532 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6035A>G (p.Asp2012Gly) single nucleotide variant Episodic ataxia type 2 [RCV001863550] Chr19:13212646 [GRCh38]
Chr19:13323460 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2149G>A (p.Ala717Thr) single nucleotide variant Episodic ataxia type 2 [RCV001890986] Chr19:13303569 [GRCh38]
Chr19:13414383 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002227569]|Episodic ataxia type 2 [RCV001982766]|Inborn genetic diseases [RCV002562912] Chr19:13299346 [GRCh38]
Chr19:13410160 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.623G>C (p.Gly208Ala) single nucleotide variant Episodic ataxia type 2 [RCV001891156] Chr19:13371696 [GRCh38]
Chr19:13482510 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3526C>A (p.Pro1176Thr) single nucleotide variant Episodic ataxia type 2 [RCV002006311] Chr19:13286530 [GRCh38]
Chr19:13397344 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4601T>C (p.Ile1534Thr) single nucleotide variant Episodic ataxia type 2 [RCV001912763] Chr19:13255249 [GRCh38]
Chr19:13366063 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2581C>G (p.Gln861Glu) single nucleotide variant Episodic ataxia type 2 [RCV002020350] Chr19:13299052 [GRCh38]
Chr19:13409866 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4942G>C (p.Glu1648Gln) single nucleotide variant Episodic ataxia type 2 [RCV001890209] Chr19:13245190 [GRCh38]
Chr19:13356004 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6469G>A (p.Asp2157Asn) single nucleotide variant Episodic ataxia type 2 [RCV001965187]|not provided [RCV002285518] Chr19:13209369 [GRCh38]
Chr19:13320183 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6073A>C (p.Lys2025Gln) single nucleotide variant Episodic ataxia type 2 [RCV001890311] Chr19:13212500 [GRCh38]
Chr19:13323314 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4366del (p.Ser1456fs) deletion Episodic ataxia type 2 [RCV001911720] Chr19:13259586 [GRCh38]
Chr19:13370400 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.110_125dup (p.Gly43fs) duplication Episodic ataxia type 2 [RCV001891301] Chr19:13506099..13506100 [GRCh38]
Chr19:13616913..13616914 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4447C>T (p.Arg1483Cys) single nucleotide variant Episodic ataxia type 2 [RCV002004221] Chr19:13257493 [GRCh38]
Chr19:13368307 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5857G>A (p.Gly1953Arg) single nucleotide variant Episodic ataxia type 2 [RCV001965478] Chr19:13214316 [GRCh38]
Chr19:13325130 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5193A>C (p.Gln1731His) single nucleotide variant Episodic ataxia type 2 [RCV002003383] Chr19:13234977 [GRCh38]
Chr19:13345791 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6780+8C>A single nucleotide variant Episodic ataxia type 2 [RCV001890915] Chr19:13208748 [GRCh38]
Chr19:13319562 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6562G>A (p.Gly2188Arg) single nucleotide variant Episodic ataxia type 2 [RCV001945788]|not provided [RCV002281202] Chr19:13208974 [GRCh38]
Chr19:13319788 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2837C>T (p.Ser946Phe) single nucleotide variant not provided [RCV001837667] Chr19:13298796 [GRCh38]
Chr19:13409610 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs) deletion Developmental and epileptic encephalopathy, 42 [RCV002052295]|Episodic ataxia type 2 [RCV003773527] Chr19:13212389..13212392 [GRCh38]
Chr19:13323203..13323206 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.65G>A (p.Gly22Glu) single nucleotide variant Episodic ataxia type 2 [RCV001892122] Chr19:13506160 [GRCh38]
Chr19:13616974 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_12757434)_(13617038_?)del deletion Episodic ataxia type 2 [RCV001953618]|Glutaric aciduria, type 1 [RCV001947065] Chr19:12757434..13617038 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001127222.2(CACNA1A):c.5839+6A>C single nucleotide variant Episodic ataxia type 2 [RCV001910826] Chr19:13214495 [GRCh38]
Chr19:13325309 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4634G>A (p.Arg1545Gln) single nucleotide variant Episodic ataxia type 2 [RCV001967450]|Inborn genetic diseases [RCV002334919] Chr19:13255216 [GRCh38]
Chr19:13366030 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4107G>A (p.Val1369=) single nucleotide variant Episodic ataxia type 2 [RCV002004808] Chr19:13261593 [GRCh38]
Chr19:13372407 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6685G>A (p.Ala2229Thr) single nucleotide variant Episodic ataxia type 2 [RCV001890793] Chr19:13208851 [GRCh38]
Chr19:13319665 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3395C>T (p.Ser1132Phe) single nucleotide variant Episodic ataxia type 2 [RCV001927699] Chr19:13286661 [GRCh38]
Chr19:13397475 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6444C>A (p.Asn2148Lys) single nucleotide variant Episodic ataxia type 2 [RCV001969805]|not provided [RCV003154226] Chr19:13209394 [GRCh38]
Chr19:13320208 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu) single nucleotide variant Episodic ataxia type 2 [RCV001893136]|Episodic ataxia type 2 [RCV002506971] Chr19:13298640 [GRCh38]
Chr19:13409454 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.502G>A (p.Gly168Ser) single nucleotide variant Episodic ataxia type 2 [RCV001893877] Chr19:13452913 [GRCh38]
Chr19:13563727 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3149T>C (p.Ile1050Thr) single nucleotide variant Spinocerebellar ataxia type 6 [RCV001849209] Chr19:13286907 [GRCh38]
Chr19:13397721 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1583T>C (p.Leu528Pro) single nucleotide variant Spinocerebellar ataxia type 6 [RCV001849211] Chr19:13312754 [GRCh38]
Chr19:13423568 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5139T>A (p.Phe1713Leu) single nucleotide variant Spinocerebellar ataxia type 6 [RCV001849212] Chr19:13235031 [GRCh38]
Chr19:13345845 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3414del (p.Thr1139fs) deletion Spinocerebellar ataxia type 6 [RCV001849218] Chr19:13286642 [GRCh38]
Chr19:13397456 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2956G>A (p.Ala986Thr) single nucleotide variant Episodic ataxia type 2 [RCV001947963] Chr19:13298677 [GRCh38]
Chr19:13409491 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6710G>T (p.Arg2237Leu) single nucleotide variant Episodic ataxia type 2 [RCV001948861] Chr19:13208826 [GRCh38]
Chr19:13319640 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2944G>A (p.Gly982Ser) single nucleotide variant Episodic ataxia type 2 [RCV002004232] Chr19:13298689 [GRCh38]
Chr19:13409503 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.841del (p.Cys281fs) deletion Episodic ataxia type 2 [RCV001912838]|Episodic ataxia type 2 [RCV002227286] Chr19:13359743 [GRCh38]
Chr19:13470557 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5095G>C (p.Ala1699Pro) single nucleotide variant Episodic ataxia type 2 [RCV001895072] Chr19:13235247 [GRCh38]
Chr19:13346061 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4G>T (p.Ala2Ser) single nucleotide variant Episodic ataxia type 2 [RCV002007885] Chr19:13506221 [GRCh38]
Chr19:13617035 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.367G>A (p.Asp123Asn) single nucleotide variant CACNA1A-related disorder [RCV003985529]|Episodic ataxia type 2 [RCV001889698] Chr19:13455139 [GRCh38]
Chr19:13565953 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5511G>C (p.Glu1837Asp) single nucleotide variant Episodic ataxia type 2 [RCV001890043] Chr19:13230099 [GRCh38]
Chr19:13340913 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3134C>G (p.Ser1045Ter) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002052088] Chr19:13286922 [GRCh38]
Chr19:13397736 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.5477dup (p.His1826fs) duplication Episodic ataxia type 2 [RCV001889863] Chr19:13230132..13230133 [GRCh38]
Chr19:13340946..13340947 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.7C>G (p.Arg3Gly) single nucleotide variant Episodic ataxia type 2 [RCV002041976] Chr19:13506218 [GRCh38]
Chr19:13617032 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6633C>G (p.His2211Gln) single nucleotide variant Episodic ataxia type 2 [RCV001894827]|Episodic ataxia type 2 [RCV002290785] Chr19:13208903 [GRCh38]
Chr19:13319717 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.978+1G>C single nucleotide variant Migraine, familial hemiplegic, 1 [RCV002052185] Chr19:13359605 [GRCh38]
Chr19:13470419 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3533T>A (p.Leu1178His) single nucleotide variant Episodic ataxia type 2 [RCV002022653] Chr19:13286523 [GRCh38]
Chr19:13397337 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3765G>A (p.Met1255Ile) single nucleotide variant CACNA1A-related disorder [RCV003985537]|Episodic ataxia type 2 [RCV002003141] Chr19:13283324 [GRCh38]
Chr19:13394138 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6703C>T (p.His2235Tyr) single nucleotide variant Episodic ataxia type 2 [RCV001968557] Chr19:13208833 [GRCh38]
Chr19:13319647 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1748C>T (p.Ala583Val) single nucleotide variant Episodic ataxia type 2 [RCV001970363] Chr19:13308449 [GRCh38]
Chr19:13419263 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_13418576)_(13423615_?)del deletion Episodic ataxia type 2 [RCV001949333] Chr19:13418576..13423615 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001127222.2(CACNA1A):c.1627C>T (p.Arg543Trp) single nucleotide variant Episodic ataxia type 2 [RCV002024576] Chr19:13312710 [GRCh38]
Chr19:13423524 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1781A>C (p.Lys594Thr) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001823567]|Episodic ataxia type 2 [RCV002542732] Chr19:13308416 [GRCh38]
Chr19:13419230 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3145C>A (p.Pro1049Thr) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001837295] Chr19:13286911 [GRCh38]
Chr19:13397725 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5779A>T (p.Met1927Leu) single nucleotide variant Episodic ataxia type 2 [RCV001928749] Chr19:13214561 [GRCh38]
Chr19:13325375 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter) single nucleotide variant Episodic ataxia type 2 [RCV002227282]|not provided [RCV001823375] Chr19:13231775 [GRCh38]
Chr19:13342589 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3042G>C (p.Glu1014Asp) single nucleotide variant Episodic ataxia type 2 [RCV001945775] Chr19:13298591 [GRCh38]
Chr19:13409405 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1978G>A (p.Val660Met) single nucleotide variant Episodic ataxia type 2 [RCV002039545] Chr19:13307790 [GRCh38]
Chr19:13418604 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6706G>A (p.Gly2236Ser) single nucleotide variant Episodic ataxia type 2 [RCV001984424] Chr19:13208830 [GRCh38]
Chr19:13319644 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4550G>T (p.Gly1517Val) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002052074] Chr19:13257390 [GRCh38]
Chr19:13368204 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1345+1G>A single nucleotide variant Episodic ataxia type 2 [RCV002023157] Chr19:13330243 [GRCh38]
Chr19:13441057 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NC_000019.9:g.(?_13249921)_(13318882_?)dup duplication Episodic ataxia type 2 [RCV001927989] Chr19:13249921..13318882 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001127222.2(CACNA1A):c.5771A>C (p.Lys1924Thr) single nucleotide variant Episodic ataxia type 2 [RCV001927993] Chr19:13214569 [GRCh38]
Chr19:13325383 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4390G>A (p.Val1464Ile) single nucleotide variant Episodic ataxia type 2 [RCV002043762] Chr19:13257550 [GRCh38]
Chr19:13368364 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4171G>T (p.Ala1391Ser) single nucleotide variant Episodic ataxia type 2 [RCV002022547] Chr19:13261529 [GRCh38]
Chr19:13372343 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6181A>C (p.Asn2061His) single nucleotide variant Episodic ataxia type 2 [RCV002005533]|not provided [RCV003146449] Chr19:13212392 [GRCh38]
Chr19:13323206 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1246A>G single nucleotide variant Episodic ataxia type 2 [RCV001907970] Chr19:13228773 [GRCh38]
Chr19:13339587 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3961A>G (p.Ser1321Gly) single nucleotide variant Episodic ataxia type 2 [RCV001908112]|not provided [RCV003442936] Chr19:13275878 [GRCh38]
Chr19:13386692 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3035C>T (p.Thr1012Met) single nucleotide variant Episodic ataxia type 2 [RCV001985676] Chr19:13298598 [GRCh38]
Chr19:13409412 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002266051]|Episodic ataxia type 2 [RCV001911086] Chr19:13298752 [GRCh38]
Chr19:13409566 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
GRCh37/hg19 19p13.2(chr19:13512340-13548135)x1 copy number loss not provided [RCV001827889] Chr19:13512340..13548135 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001127222.2(CACNA1A):c.1199-7T>A single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV001839068] Chr19:13332932 [GRCh38]
Chr19:13443746 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.985G>A (p.Asp329Asn) single nucleotide variant Episodic ataxia type 2 [RCV001996859] Chr19:13335903 [GRCh38]
Chr19:13446717 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser) single nucleotide variant Episodic ataxia type 2 [RCV001996862]|Episodic ataxia type 2 [RCV002484767]|Inborn genetic diseases [RCV002407156]|not provided [RCV002563499] Chr19:13359736 [GRCh38]
Chr19:13470550 [GRCh37]
Chr19:19p13.13		 pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.433T>G (p.Cys145Gly) single nucleotide variant Episodic ataxia type 2 [RCV001887212] Chr19:13452982 [GRCh38]
Chr19:13563796 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4609G>A (p.Ala1537Thr) single nucleotide variant Episodic ataxia type 2 [RCV001997510]|not provided [RCV003146404] Chr19:13255241 [GRCh38]
Chr19:13366055 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1246C>G (p.Pro416Ala) single nucleotide variant Episodic ataxia type 2 [RCV001926227] Chr19:13332878 [GRCh38]
Chr19:13443692 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2434C>T (p.Arg812Trp) single nucleotide variant Episodic ataxia type 2 [RCV001899161]|not provided [RCV003238877] Chr19:13299199 [GRCh38]
Chr19:13410013 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NC_000019.9:g.(?_13427906)_(13617038_?)del deletion Episodic ataxia type 2 [RCV001944498] Chr19:13427906..13617038 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001127222.2(CACNA1A):c.2422A>T (p.Thr808Ser) single nucleotide variant Episodic ataxia type 2 [RCV001888526] Chr19:13299211 [GRCh38]
Chr19:13410025 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5940+1G>A single nucleotide variant Episodic ataxia type 2 [RCV002000901] Chr19:13214232 [GRCh38]
Chr19:13325046 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.5529-1268C>T single nucleotide variant Episodic ataxia type 2 [RCV002001301] Chr19:13228795 [GRCh38]
Chr19:13339609 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2487G>C (p.Glu829Asp) single nucleotide variant Episodic ataxia type 2 [RCV001906139]|Inborn genetic diseases [RCV002425197] Chr19:13299146 [GRCh38]
Chr19:13409960 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2510A>G (p.Lys837Arg) single nucleotide variant Episodic ataxia type 2 [RCV001941153] Chr19:13299123 [GRCh38]
Chr19:13409937 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.616G>A (p.Val206Met) single nucleotide variant Episodic ataxia type 2 [RCV002010711] Chr19:13371703 [GRCh38]
Chr19:13482517 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1418G>A (p.Arg473Lys) single nucleotide variant Episodic ataxia type 2 [RCV001961845]|not provided [RCV003442928] Chr19:13317249 [GRCh38]
Chr19:13428063 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6275C>A (p.Ser2092Tyr) single nucleotide variant Episodic ataxia type 2 [RCV001931548] Chr19:13212131 [GRCh38]
Chr19:13322945 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5840-2A>G single nucleotide variant Episodic ataxia type 2 [RCV002048449] Chr19:13214335 [GRCh38]
Chr19:13325149 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2023G>A (p.Asp675Asn) single nucleotide variant Episodic ataxia type 2 [RCV002037251]|Inborn genetic diseases [RCV002422881] Chr19:13303848 [GRCh38]
Chr19:13414662 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6572C>T (p.Pro2191Leu) single nucleotide variant Episodic ataxia type 2 [RCV002038247] Chr19:13208964 [GRCh38]
Chr19:13319778 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2587C>A (p.Arg863Ser) single nucleotide variant Episodic ataxia type 2 [RCV001996428] Chr19:13299046 [GRCh38]
Chr19:13409860 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2959C>G (p.Arg987Gly) single nucleotide variant Episodic ataxia type 2 [RCV002029929] Chr19:13298674 [GRCh38]
Chr19:13409488 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6339+5G>C single nucleotide variant Episodic ataxia type 2 [RCV001939066] Chr19:13210612 [GRCh38]
Chr19:13321426 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2893G>A (p.Gly965Arg) single nucleotide variant Episodic ataxia type 2 [RCV001941430] Chr19:13298740 [GRCh38]
Chr19:13409554 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2336G>C (p.Ser779Thr) single nucleotide variant Episodic ataxia type 2 [RCV002039100] Chr19:13299297 [GRCh38]
Chr19:13410111 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr) single nucleotide variant Episodic ataxia type 2 [RCV002049964]|Episodic ataxia type 2 [RCV002478081] Chr19:13506095 [GRCh38]
Chr19:13616909 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1513A>G (p.Ile505Val) single nucleotide variant Episodic ataxia type 2 [RCV002000595] Chr19:13317154 [GRCh38]
Chr19:13427968 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5198C>T (p.Thr1733Ile) single nucleotide variant Episodic ataxia type 2 [RCV001904443] Chr19:13234972 [GRCh38]
Chr19:13345786 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2107A>T (p.Thr703Ser) single nucleotide variant Episodic ataxia type 2 [RCV001940117] Chr19:13303611 [GRCh38]
Chr19:13414425 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1215C>T single nucleotide variant Episodic ataxia type 2 [RCV002037295] Chr19:13228742 [GRCh38]
Chr19:13339556 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.7C>T (p.Arg3Cys) single nucleotide variant Episodic ataxia type 2 [RCV001886924] Chr19:13506218 [GRCh38]
Chr19:13617032 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2982G>C (p.Glu994Asp) single nucleotide variant Episodic ataxia type 2 [RCV001961661] Chr19:13298651 [GRCh38]
Chr19:13409465 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2355C>G (p.Asn785Lys) single nucleotide variant Episodic ataxia type 2 [RCV002048919] Chr19:13299278 [GRCh38]
Chr19:13410092 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1975A>G (p.Thr659Ala) single nucleotide variant Episodic ataxia type 2 [RCV002012551]|not provided [RCV003332369] Chr19:13307793 [GRCh38]
Chr19:13418607 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_13563670)_(13574132_?)del deletion Episodic ataxia type 2 [RCV001958578] Chr19:13563670..13574132 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001127222.2(CACNA1A):c.815G>A (p.Cys272Tyr) single nucleotide variant CACNA1A-related disorder [RCV002291304]|Episodic ataxia type 2 [RCV001942154] Chr19:13359769 [GRCh38]
Chr19:13470583 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.5068-1G>A single nucleotide variant Episodic ataxia type 2 [RCV002038382] Chr19:13235275 [GRCh38]
Chr19:13346089 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6214A>G (p.Arg2072Gly) single nucleotide variant Episodic ataxia type 2 [RCV002011353] Chr19:13212192 [GRCh38]
Chr19:13323006 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1986+6G>A single nucleotide variant Episodic ataxia type 2 [RCV002031948] Chr19:13307776 [GRCh38]
Chr19:13418590 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3922T>G (p.Phe1308Val) single nucleotide variant Episodic ataxia type 2 [RCV002001088] Chr19:13275917 [GRCh38]
Chr19:13386731 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_13394061)_(13397800_?)del deletion Episodic ataxia type 2 [RCV001963217] Chr19:13394061..13397800 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001127222.2(CACNA1A):c.6229G>A (p.Asp2077Asn) single nucleotide variant Episodic ataxia type 2 [RCV001885846] Chr19:13212177 [GRCh38]
Chr19:13322991 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3650T>A (p.Met1217Lys) single nucleotide variant Episodic ataxia type 2 [RCV001877249] Chr19:13285110 [GRCh38]
Chr19:13395924 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002466277]|Episodic ataxia type 2 [RCV002034426] Chr19:13261525 [GRCh38]
Chr19:13372339 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.5994A>C (p.Glu1998Asp) single nucleotide variant Episodic ataxia type 2 [RCV002029481] Chr19:13212687 [GRCh38]
Chr19:13323501 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6230A>T (p.Asp2077Val) single nucleotide variant Episodic ataxia type 2 [RCV002014940] Chr19:13212176 [GRCh38]
Chr19:13322990 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg) single nucleotide variant Episodic ataxia type 2 [RCV001951627]|Episodic ataxia type 2 [RCV002479592] Chr19:13298641 [GRCh38]
Chr19:13409455 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3542C>G (p.Thr1181Ser) single nucleotide variant Episodic ataxia type 2 [RCV001917785] Chr19:13286514 [GRCh38]
Chr19:13397328 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.209A>G (p.Asn70Ser) single nucleotide variant Episodic ataxia type 2 [RCV001901839]|Inborn genetic diseases [RCV002422915] Chr19:13506016 [GRCh38]
Chr19:13616830 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5335C>A (p.Arg1779=) single nucleotide variant Episodic ataxia type 2 [RCV001881594] Chr19:13231775 [GRCh38]
Chr19:13342589 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6481C>T (p.Arg2161Cys) single nucleotide variant Episodic ataxia type 2 [RCV001935221]|Inborn genetic diseases [RCV002361210] Chr19:13209357 [GRCh38]
Chr19:13320171 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5174G>A (p.Ser1725Asn) single nucleotide variant Episodic ataxia type 2 [RCV002032089]|Inborn genetic diseases [RCV002337168] Chr19:13234996 [GRCh38]
Chr19:13345810 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5029A>G (p.Ile1677Val) single nucleotide variant Episodic ataxia type 2 [RCV002049642] Chr19:13235652 [GRCh38]
Chr19:13346466 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6058C>T (p.His2020Tyr) single nucleotide variant Episodic ataxia type 2 [RCV001881646]|not provided [RCV003223732] Chr19:13212515 [GRCh38]
Chr19:13323329 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5876T>C (p.Met1959Thr) single nucleotide variant Episodic ataxia type 2 [RCV001957054] Chr19:13214297 [GRCh38]
Chr19:13325111 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2806C>G (p.Gln936Glu) single nucleotide variant Episodic ataxia type 2 [RCV001880598] Chr19:13298827 [GRCh38]
Chr19:13409641 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6532G>A (p.Gly2178Arg) single nucleotide variant CACNA1A-related disorder [RCV003985538]|Episodic ataxia type 2 [RCV001996290] Chr19:13209004 [GRCh38]
Chr19:13319818 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile) single nucleotide variant Episodic ataxia type 2 [RCV001916764]|Episodic ataxia type 2 [RCV002227288] Chr19:13230188 [GRCh38]
Chr19:13341002 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.2979C>T (p.Gly993=) single nucleotide variant Autism spectrum disorder [RCV003126076]|Episodic ataxia type 2 [RCV001991306]|not provided [RCV003426278] Chr19:13298654 [GRCh38]
Chr19:13409468 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5529-1204G>A single nucleotide variant Episodic ataxia type 2 [RCV002013285] Chr19:13228731 [GRCh38]
Chr19:13339545 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2400C>G (p.Asp800Glu) single nucleotide variant Episodic ataxia type 2 [RCV001973169] Chr19:13299233 [GRCh38]
Chr19:13410047 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6724G>A (p.Asp2242Asn) single nucleotide variant Episodic ataxia type 2 [RCV002009581] Chr19:13208812 [GRCh38]
Chr19:13319626 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6451C>T (p.His2151Tyr) single nucleotide variant Episodic ataxia type 2 [RCV001930274] Chr19:13209387 [GRCh38]
Chr19:13320201 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6584G>T (p.Arg2195Leu) single nucleotide variant Episodic ataxia type 2 [RCV001867700] Chr19:13208952 [GRCh38]
Chr19:13319766 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2636C>T (p.Ala879Val) single nucleotide variant Episodic ataxia type 2 [RCV002050032] Chr19:13298997 [GRCh38]
Chr19:13409811 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4931T>C (p.Ile1644Thr) single nucleotide variant Episodic ataxia type 2 [RCV001977055] Chr19:13245201 [GRCh38]
Chr19:13356015 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2072T>C (p.Ile691Thr) single nucleotide variant Episodic ataxia type 2 [RCV001899566] Chr19:13303799 [GRCh38]
Chr19:13414613 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.293C>T (p.Pro98Leu) single nucleotide variant Episodic ataxia type 2 [RCV002048563] Chr19:13505932 [GRCh38]
Chr19:13616746 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4144G>T (p.Val1382Phe) single nucleotide variant Episodic ataxia type 2 [RCV002046111] Chr19:13261556 [GRCh38]
Chr19:13372370 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4202A>G (p.Lys1401Arg) single nucleotide variant Episodic ataxia type 2 [RCV002026157] Chr19:13261498 [GRCh38]
Chr19:13372312 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4087A>G (p.Lys1363Glu) single nucleotide variant Episodic ataxia type 2 [RCV002028774] Chr19:13262736 [GRCh38]
Chr19:13373550 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6343_6345dup (p.Ile2115dup) duplication Episodic ataxia type 2 [RCV001922082] Chr19:13209492..13209493 [GRCh38]
Chr19:13320306..13320307 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.821C>T (p.Thr274Ile) single nucleotide variant Episodic ataxia type 2 [RCV001875340] Chr19:13359763 [GRCh38]
Chr19:13470577 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6758G>T (p.Arg2253Leu) single nucleotide variant Episodic ataxia type 2 [RCV001991750] Chr19:13208778 [GRCh38]
Chr19:13319592 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6588C>A (p.Asp2196Glu) single nucleotide variant Episodic ataxia type 2 [RCV001975959] Chr19:13208948 [GRCh38]
Chr19:13319762 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2966_2989del (p.Gly989_Pro996del) deletion Episodic ataxia type 2 [RCV002033142] Chr19:13298644..13298667 [GRCh38]
Chr19:13409458..13409481 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3002G>C (p.Arg1001Pro) single nucleotide variant Episodic ataxia type 2 [RCV001875525] Chr19:13298631 [GRCh38]
Chr19:13409445 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6050+4_6050+7del deletion Episodic ataxia type 2 [RCV001972240] Chr19:13212624..13212627 [GRCh38]
Chr19:13323438..13323441 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6653A>C (p.His2218Pro) single nucleotide variant Episodic ataxia type 2 [RCV001955345] Chr19:13208883 [GRCh38]
Chr19:13319697 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3757A>T (p.Ile1253Phe) single nucleotide variant Episodic ataxia type 2 [RCV001932096] Chr19:13283332 [GRCh38]
Chr19:13394146 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3078T>A (p.His1026Gln) single nucleotide variant Episodic ataxia type 2 [RCV001930737]|not provided [RCV002254972] Chr19:13298555 [GRCh38]
Chr19:13409369 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3393_3401dup (p.Ser1132_Pro1134dup) duplication Episodic ataxia type 2 [RCV002014098] Chr19:13286654..13286655 [GRCh38]
Chr19:13397468..13397469 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter) single nucleotide variant Episodic ataxia type 2 [RCV001979015]|Episodic ataxia type 2 [RCV002227289] Chr19:13299322 [GRCh38]
Chr19:13410136 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2899_2900delinsTT (p.Glu967Leu) indel Episodic ataxia type 2 [RCV002047888] Chr19:13298733..13298734 [GRCh38]
Chr19:13409547..13409548 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6623_6631dup (p.Arg2208_His2210dup) duplication Episodic ataxia type 2 [RCV001994307] Chr19:13208904..13208905 [GRCh38]
Chr19:13319718..13319719 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5948C>T (p.Thr1983Ile) single nucleotide variant Episodic ataxia type 2 [RCV001922289]|not provided [RCV003154047] Chr19:13212733 [GRCh38]
Chr19:13323547 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2706C>G (p.Asp902Glu) single nucleotide variant Episodic ataxia type 2 [RCV001937477] Chr19:13298927 [GRCh38]
Chr19:13409741 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5957T>C (p.Met1986Thr) single nucleotide variant Episodic ataxia type 2 [RCV002026657] Chr19:13212724 [GRCh38]
Chr19:13323538 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5839+1G>C single nucleotide variant Episodic ataxia type 2 [RCV001991990] Chr19:13214500 [GRCh38]
Chr19:13325314 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2612C>A (p.Pro871His) single nucleotide variant Episodic ataxia type 2 [RCV001955340] Chr19:13299021 [GRCh38]
Chr19:13409835 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.65G>C (p.Gly22Ala) single nucleotide variant Episodic ataxia type 2 [RCV002036635] Chr19:13506160 [GRCh38]
Chr19:13616974 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6202C>G (p.Arg2068Gly) single nucleotide variant Episodic ataxia type 2 [RCV001878713] Chr19:13212204 [GRCh38]
Chr19:13323018 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4322A>T (p.His1441Leu) single nucleotide variant Episodic ataxia type 2 [RCV002030698] Chr19:13259630 [GRCh38]
Chr19:13370444 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6561C>A (p.Ser2187=) single nucleotide variant Episodic ataxia type 2 [RCV001977562]|Inborn genetic diseases [RCV002361329] Chr19:13208975 [GRCh38]
Chr19:13319789 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6710G>A (p.Arg2237Gln) single nucleotide variant Episodic ataxia type 2 [RCV001989684] Chr19:13208826 [GRCh38]
Chr19:13319640 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2863C>T (p.His955Tyr) single nucleotide variant Episodic ataxia type 2 [RCV001995713] Chr19:13298770 [GRCh38]
Chr19:13409584 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6130A>G (p.Thr2044Ala) single nucleotide variant Episodic ataxia type 2 [RCV001923907] Chr19:13212443 [GRCh38]
Chr19:13323257 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5731G>A (p.Gly1911Arg) single nucleotide variant Episodic ataxia type 2 [RCV002036148] Chr19:13224667 [GRCh38]
Chr19:13335481 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1426C>T (p.Arg476Cys) single nucleotide variant Episodic ataxia type 2 [RCV001940956] Chr19:13317241 [GRCh38]
Chr19:13428055 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4899C>G (p.Asp1633Glu) single nucleotide variant Episodic ataxia type 2 [RCV001877618] Chr19:13245233 [GRCh38]
Chr19:13356047 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.507G>A (p.Trp169Ter) single nucleotide variant Episodic ataxia type 2 [RCV001900649]|not provided [RCV002473313] Chr19:13452908 [GRCh38]
Chr19:13563722 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2263A>G (p.Asn755Asp) single nucleotide variant Episodic ataxia type 2 [RCV001973072] Chr19:13300566 [GRCh38]
Chr19:13411380 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3830G>A (p.Arg1277Gln) single nucleotide variant Episodic ataxia type 2 [RCV001998952] Chr19:13277121 [GRCh38]
Chr19:13387935 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1830G>A (p.Met610Ile) single nucleotide variant Episodic ataxia type 2 [RCV001918182]|Inborn genetic diseases [RCV002557605] Chr19:13308203 [GRCh38]
Chr19:13419017 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3478G>A (p.Ala1160Thr) single nucleotide variant Episodic ataxia type 2 [RCV001920868]|not provided [RCV003407943] Chr19:13286578 [GRCh38]
Chr19:13397392 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2914A>G (p.Lys972Glu) single nucleotide variant Episodic ataxia type 2 [RCV001991381] Chr19:13298719 [GRCh38]
Chr19:13409533 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3120G>A (p.Ser1040=) single nucleotide variant Episodic ataxia type 2 [RCV002031994] Chr19:13286936 [GRCh38]
Chr19:13397750 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4094T>A (p.Val1365Glu) single nucleotide variant Episodic ataxia type 2 [RCV001957933] Chr19:13261606 [GRCh38]
Chr19:13372420 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4999C>T (p.Leu1667Phe) single nucleotide variant Episodic ataxia type 2 [RCV002028613] Chr19:13235682 [GRCh38]
Chr19:13346496 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3989+1G>T single nucleotide variant Episodic ataxia type 2 [RCV001956124] Chr19:13275849 [GRCh38]
Chr19:13386663 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6448C>G (p.Arg2150Gly) single nucleotide variant Episodic ataxia type 2 [RCV001995976]|not provided [RCV002290829] Chr19:13209390 [GRCh38]
Chr19:13320204 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4590+13A>G single nucleotide variant Episodic ataxia type 2 [RCV001979686] Chr19:13257337 [GRCh38]
Chr19:13368151 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.5529-1214del deletion Episodic ataxia type 2 [RCV001993034] Chr19:13228741 [GRCh38]
Chr19:13339555 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1200A>G (p.Glu400=) single nucleotide variant Episodic ataxia type 2 [RCV001994290] Chr19:13332924 [GRCh38]
Chr19:13443738 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1577T>G (p.Leu526Ter) single nucleotide variant Episodic ataxia type 2 [RCV001958765] Chr19:13312760 [GRCh38]
Chr19:13423574 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3142C>T (p.Arg1048Trp) single nucleotide variant Episodic ataxia type 2 [RCV001934433]|not provided [RCV003229070] Chr19:13286914 [GRCh38]
Chr19:13397728 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1443C>T (p.Arg481=) single nucleotide variant Episodic ataxia type 2 [RCV002032254] Chr19:13317224 [GRCh38]
Chr19:13428038 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3607G>A (p.Glu1203Lys) single nucleotide variant Episodic ataxia type 2 [RCV002017388] Chr19:13285153 [GRCh38]
Chr19:13395967 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.294-1C>A single nucleotide variant Episodic ataxia type 2 [RCV002012394] Chr19:13455213 [GRCh38]
Chr19:13566027 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6776G>C (p.Arg2259Pro) single nucleotide variant Episodic ataxia type 2 [RCV001974766] Chr19:13208760 [GRCh38]
Chr19:13319574 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5133+3G>C single nucleotide variant Episodic ataxia type 2 [RCV001935742] Chr19:13235206 [GRCh38]
Chr19:13346020 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1623G>T (p.Gly541=) single nucleotide variant Episodic ataxia type 2 [RCV001923063] Chr19:13312714 [GRCh38]
Chr19:13423528 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.235T>G (p.Phe79Val) single nucleotide variant Episodic ataxia type 2 [RCV001897424] Chr19:13505990 [GRCh38]
Chr19:13616804 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5869G>A (p.Ala1957Thr) single nucleotide variant Episodic ataxia type 2 [RCV001923082] Chr19:13214304 [GRCh38]
Chr19:13325118 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1906G>A (p.Gly636Ser) single nucleotide variant Episodic ataxia type 2 [RCV001923683] Chr19:13308127 [GRCh38]
Chr19:13418941 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2972G>T (p.Gly991Val) single nucleotide variant Episodic ataxia type 2 [RCV001907368] Chr19:13298661 [GRCh38]
Chr19:13409475 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_13318860)_(13325442_?)del deletion Episodic ataxia type 2 [RCV001951446] Chr19:13318860..13325442 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001127222.2(CACNA1A):c.6743C>T (p.Ser2248Leu) single nucleotide variant Episodic ataxia type 2 [RCV002029256]|Inborn genetic diseases [RCV002548795]|not provided [RCV003222379] Chr19:13208793 [GRCh38]
Chr19:13319607 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1973T>A (p.Met658Lys) single nucleotide variant Episodic ataxia type 2 [RCV002051542] Chr19:13307795 [GRCh38]
Chr19:13418609 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5896C>T (p.Arg1966Trp) single nucleotide variant Episodic ataxia type 2 [RCV002019267] Chr19:13214277 [GRCh38]
Chr19:13325091 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6565G>A (p.Asp2189Asn) single nucleotide variant Episodic ataxia type 2 [RCV002029300]|Migraine, familial hemiplegic, 1 [RCV003339896] Chr19:13208971 [GRCh38]
Chr19:13319785 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4599C>A (p.Cys1533Ter) single nucleotide variant Episodic ataxia type 2 [RCV001935935] Chr19:13255251 [GRCh38]
Chr19:13366065 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2105-9C>G single nucleotide variant Episodic ataxia type 2 [RCV001979357] Chr19:13303622 [GRCh38]
Chr19:13414436 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5778G>A (p.Met1926Ile) single nucleotide variant Episodic ataxia type 2 [RCV001997856] Chr19:13214562 [GRCh38]
Chr19:13325376 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2957C>T (p.Ala986Val) single nucleotide variant Episodic ataxia type 2 [RCV001924104] Chr19:13298676 [GRCh38]
Chr19:13409490 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6304-9C>G single nucleotide variant Episodic ataxia type 2 [RCV001939966] Chr19:13210661 [GRCh38]
Chr19:13321475 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6051-20G>A single nucleotide variant Episodic ataxia type 2 [RCV001886300] Chr19:13212542 [GRCh38]
Chr19:13323356 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.785-3T>C single nucleotide variant Episodic ataxia type 2 [RCV002018153] Chr19:13359802 [GRCh38]
Chr19:13470616 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2808G>T (p.Gln936His) single nucleotide variant Episodic ataxia type 2 [RCV001884364] Chr19:13298825 [GRCh38]
Chr19:13409639 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2335A>T (p.Ser779Cys) single nucleotide variant Episodic ataxia type 2 [RCV001998925] Chr19:13299298 [GRCh38]
Chr19:13410112 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2840del (p.Pro947fs) deletion Episodic ataxia type 2 [RCV001875089] Chr19:13298793 [GRCh38]
Chr19:13409607 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1735A>G (p.Ser579Gly) single nucleotide variant Episodic ataxia type 2 [RCV001916659] Chr19:13308462 [GRCh38]
Chr19:13419276 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5215C>T (p.Arg1739Trp) single nucleotide variant Episodic ataxia type 2 [RCV001993488]|not provided [RCV003314713] Chr19:13234955 [GRCh38]
Chr19:13345769 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.5999G>C (p.Gly2000Ala) single nucleotide variant Episodic ataxia type 2 [RCV001921151] Chr19:13212682 [GRCh38]
Chr19:13323496 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4166T>C (p.Ile1389Thr) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003314024]|Episodic ataxia type 2 [RCV001882266] Chr19:13261534 [GRCh38]
Chr19:13372348 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5966G>A (p.Arg1989His) single nucleotide variant Episodic ataxia type 2 [RCV001981687] Chr19:13212715 [GRCh38]
Chr19:13323529 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.876dup (p.Gly293fs) duplication Episodic ataxia type 2 [RCV001885672] Chr19:13359707..13359708 [GRCh38]
Chr19:13470521..13470522 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6526+6C>T single nucleotide variant CACNA1A-related disorder [RCV003985531]|Episodic ataxia type 2 [RCV001924443]|Inborn genetic diseases [RCV002560491] Chr19:13209306 [GRCh38]
Chr19:13320120 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6617A>G (p.Lys2206Arg) single nucleotide variant Episodic ataxia type 2 [RCV001900627] Chr19:13208919 [GRCh38]
Chr19:13319733 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3213C>A (p.Asn1071Lys) single nucleotide variant Episodic ataxia type 2 [RCV002013149] Chr19:13286843 [GRCh38]
Chr19:13397657 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2672T>A (p.Leu891Gln) single nucleotide variant Episodic ataxia type 2 [RCV001973031] Chr19:13298961 [GRCh38]
Chr19:13409775 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3105dup (p.Gly1036fs) duplication Episodic ataxia type 2 [RCV001990214] Chr19:13286950..13286951 [GRCh38]
Chr19:13397764..13397765 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3004A>T (p.Arg1002Trp) single nucleotide variant Episodic ataxia type 2 [RCV002016682] Chr19:13298629 [GRCh38]
Chr19:13409443 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1220A>G (p.Asp407Gly) single nucleotide variant Episodic ataxia type 2 [RCV001866277] Chr19:13332904 [GRCh38]
Chr19:13443718 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.611A>G (p.Lys204Arg) single nucleotide variant Episodic ataxia type 2 [RCV001920397]|not provided [RCV003120749] Chr19:13371708 [GRCh38]
Chr19:13482522 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3838_3841del (p.Asp1280fs) deletion Episodic ataxia type 2 [RCV001897364] Chr19:13277110..13277113 [GRCh38]
Chr19:13387924..13387927 [GRCh37]
Chr19:19p13.13		 pathogenic
NC_000019.9:g.(?_13445172)_(13446743_?)del deletion Episodic ataxia type 2 [RCV001952221] Chr19:13445172..13446743 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001127222.2(CACNA1A):c.2708A>C (p.His903Pro) single nucleotide variant Episodic ataxia type 2 [RCV001919781] Chr19:13298925 [GRCh38]
Chr19:13409739 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5408dup (p.Asn1803fs) duplication Episodic ataxia type 2 [RCV001936104] Chr19:13230201..13230202 [GRCh38]
Chr19:13341015..13341016 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2966_2967delinsTT (p.Gly989Val) indel Episodic ataxia type 2 [RCV002012708] Chr19:13298666..13298667 [GRCh38]
Chr19:13409480..13409481 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_13318860)_(13321486_?)dup duplication Episodic ataxia type 2 [RCV001990471] Chr19:13318860..13321486 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001127222.2(CACNA1A):c.2392G>A (p.Asp798Asn) single nucleotide variant Episodic ataxia type 2 [RCV002046561] Chr19:13299241 [GRCh38]
Chr19:13410055 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_12757434)_(13373667_?)del deletion Aicardi-Goutieres syndrome 4 [RCV001923352]|Episodic ataxia type 2 [RCV001923351]|not provided [RCV001923353] Chr19:12757434..13373667 [GRCh37]
Chr19:19p13.2		 pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.1533C>T (p.Pro511=) single nucleotide variant Episodic ataxia type 2 [RCV002190151] Chr19:13317134 [GRCh38]
Chr19:13427948 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2641A>C (p.Arg881=) single nucleotide variant Episodic ataxia type 2 [RCV002130440] Chr19:13298992 [GRCh38]
Chr19:13409806 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6051-18C>T single nucleotide variant Episodic ataxia type 2 [RCV002087225] Chr19:13212540 [GRCh38]
Chr19:13323354 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6624A>C (p.Arg2208=) single nucleotide variant Episodic ataxia type 2 [RCV002210364] Chr19:13208912 [GRCh38]
Chr19:13319726 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4647G>A (p.Gln1549=) single nucleotide variant Episodic ataxia type 2 [RCV002130866] Chr19:13255203 [GRCh38]
Chr19:13366017 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2985C>A (p.Gly995=) single nucleotide variant Episodic ataxia type 2 [RCV002125664] Chr19:13298648 [GRCh38]
Chr19:13409462 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3070C>A (p.Arg1024=) single nucleotide variant Episodic ataxia type 2 [RCV002087561] Chr19:13298563 [GRCh38]
Chr19:13409377 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2439A>G (p.Pro813=) single nucleotide variant Episodic ataxia type 2 [RCV002187577] Chr19:13299194 [GRCh38]
Chr19:13410008 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6474C>A (p.Arg2158=) single nucleotide variant Episodic ataxia type 2 [RCV002090742] Chr19:13209364 [GRCh38]
Chr19:13320178 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2892C>T (p.Pro964=) single nucleotide variant CACNA1A-related disorder [RCV003985542]|Episodic ataxia type 2 [RCV002087469] Chr19:13298741 [GRCh38]
Chr19:13409555 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1605A>T (p.Ile535=) single nucleotide variant Episodic ataxia type 2 [RCV002189097] Chr19:13312732 [GRCh38]
Chr19:13423546 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2571C>T (p.Phe857=) single nucleotide variant Episodic ataxia type 2 [RCV002146101] Chr19:13299062 [GRCh38]
Chr19:13409876 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.285C>T (p.Thr95=) single nucleotide variant CACNA1A-related disorder [RCV003985550]|Episodic ataxia type 2 [RCV002074879] Chr19:13505940 [GRCh38]
Chr19:13616754 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.399+20A>G single nucleotide variant Episodic ataxia type 2 [RCV002167084] Chr19:13455087 [GRCh38]
Chr19:13565901 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5118C>T (p.Ala1706=) single nucleotide variant Episodic ataxia type 2 [RCV002086519] Chr19:13235224 [GRCh38]
Chr19:13346038 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3990-16A>G single nucleotide variant Episodic ataxia type 2 [RCV002192831] Chr19:13262849 [GRCh38]
Chr19:13373663 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4251-19T>A single nucleotide variant Episodic ataxia type 2 [RCV002109801] Chr19:13259720 [GRCh38]
Chr19:13370534 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5967C>G (p.Arg1989=) single nucleotide variant Episodic ataxia type 2 [RCV002091848] Chr19:13212714 [GRCh38]
Chr19:13323528 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4293A>G (p.Arg1431=) single nucleotide variant Episodic ataxia type 2 [RCV002187275]|Inborn genetic diseases [RCV002331683] Chr19:13259659 [GRCh38]
Chr19:13370473 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3033C>T (p.Ala1011=) single nucleotide variant Episodic ataxia type 2 [RCV002106827] Chr19:13298600 [GRCh38]
Chr19:13409414 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.843C>T (p.Cys281=) single nucleotide variant Episodic ataxia type 2 [RCV002090249] Chr19:13359741 [GRCh38]
Chr19:13470555 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6051-16del deletion Episodic ataxia type 2 [RCV002089743] Chr19:13212538 [GRCh38]
Chr19:13323352 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.399+15T>C single nucleotide variant Episodic ataxia type 2 [RCV002088912] Chr19:13455092 [GRCh38]
Chr19:13565906 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6691del (p.Glu2231fs) deletion Developmental and epileptic encephalopathy, 42 [RCV002226587] Chr19:13208845 [GRCh38]
Chr19:13319659 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3089+16C>T single nucleotide variant Episodic ataxia type 2 [RCV002146926] Chr19:13298528 [GRCh38]
Chr19:13409342 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4821C>A (p.Leu1607=) single nucleotide variant Episodic ataxia type 2 [RCV002090882] Chr19:13253036 [GRCh38]
Chr19:13363850 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1353C>G (p.Pro451=) single nucleotide variant Episodic ataxia type 2 [RCV002126017] Chr19:13317314 [GRCh38]
Chr19:13428128 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3883-13T>C single nucleotide variant Episodic ataxia type 2 [RCV002086467] Chr19:13275969 [GRCh38]
Chr19:13386783 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1668+20A>G single nucleotide variant Episodic ataxia type 2 [RCV002126137] Chr19:13312649 [GRCh38]
Chr19:13423463 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4302G>A (p.Glu1434=) single nucleotide variant Episodic ataxia type 2 [RCV002128722] Chr19:13259650 [GRCh38]
Chr19:13370464 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs) duplication Episodic ataxia type 2 [RCV002227412] Chr19:13235665..13235666 [GRCh38]
Chr19:13346479..13346480 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1668+19A>G single nucleotide variant Episodic ataxia type 2 [RCV002127637] Chr19:13312650 [GRCh38]
Chr19:13423464 [GRCh37]
Chr19:19p13.13		 likely benign
NC_000019.10:g.13599780G>A single nucleotide variant not specified [RCV002247044] Chr19:13599780 [GRCh38]
Chr19:13710594 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6615G>A (p.Arg2205=) single nucleotide variant Episodic ataxia type 2 [RCV002165043] Chr19:13208921 [GRCh38]
Chr19:13319735 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1770C>T (p.Phe590=) single nucleotide variant Episodic ataxia type 2 [RCV002210227] Chr19:13308427 [GRCh38]
Chr19:13419241 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.525G>C (p.Val175=) single nucleotide variant Episodic ataxia type 2 [RCV002072847] Chr19:13452890 [GRCh38]
Chr19:13563704 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5840-17C>A single nucleotide variant Episodic ataxia type 2 [RCV002111329] Chr19:13214350 [GRCh38]
Chr19:13325164 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.904G>C (p.Asp302His) single nucleotide variant not provided [RCV002226088] Chr19:13359680 [GRCh38]
Chr19:13470494 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.129G>C (p.Gly43=) single nucleotide variant Episodic ataxia type 2 [RCV002113823] Chr19:13506096 [GRCh38]
Chr19:13616910 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.979-19C>G single nucleotide variant Episodic ataxia type 2 [RCV002171616] Chr19:13335928 [GRCh38]
Chr19:13446742 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4659C>T (p.Ser1553=) single nucleotide variant Episodic ataxia type 2 [RCV002185035] Chr19:13255191 [GRCh38]
Chr19:13366005 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6526+7A>C single nucleotide variant Episodic ataxia type 2 [RCV002086221] Chr19:13209305 [GRCh38]
Chr19:13320119 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2124C>T (p.Phe708=) single nucleotide variant Episodic ataxia type 2 [RCV002117445] Chr19:13303594 [GRCh38]
Chr19:13414408 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.786T>C (p.Asp262=) single nucleotide variant Episodic ataxia type 2 [RCV002074531] Chr19:13359798 [GRCh38]
Chr19:13470612 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1839C>A (p.Ile613=) single nucleotide variant Episodic ataxia type 2 [RCV002216179] Chr19:13308194 [GRCh38]
Chr19:13419008 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.632-15T>A single nucleotide variant Episodic ataxia type 2 [RCV002172642] Chr19:13365484 [GRCh38]
Chr19:13476298 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4365G>T (p.Val1455=) single nucleotide variant Episodic ataxia type 2 [RCV002173840] Chr19:13259587 [GRCh38]
Chr19:13370401 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6051-13del deletion Episodic ataxia type 2 [RCV002080282] Chr19:13212535 [GRCh38]
Chr19:13323349 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6051-11C>T single nucleotide variant Episodic ataxia type 2 [RCV002095335] Chr19:13212533 [GRCh38]
Chr19:13323347 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5703C>A (p.Arg1901=) single nucleotide variant Episodic ataxia type 2 [RCV002167538] Chr19:13224695 [GRCh38]
Chr19:13335509 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1256-18A>G single nucleotide variant Episodic ataxia type 2 [RCV002213608] Chr19:13330351 [GRCh38]
Chr19:13441165 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5821C>T (p.Leu1941=) single nucleotide variant Episodic ataxia type 2 [RCV002080332] Chr19:13214519 [GRCh38]
Chr19:13325333 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2052G>A (p.Gln684=) single nucleotide variant Episodic ataxia type 2 [RCV002149279] Chr19:13303819 [GRCh38]
Chr19:13414633 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1305C>G (p.Pro435=) single nucleotide variant Episodic ataxia type 2 [RCV002212607] Chr19:13330284 [GRCh38]
Chr19:13441098 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5134-11C>T single nucleotide variant Episodic ataxia type 2 [RCV002115421] Chr19:13235047 [GRCh38]
Chr19:13345861 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6540C>T (p.Asp2180=) single nucleotide variant Episodic ataxia type 2 [RCV002096980] Chr19:13208996 [GRCh38]
Chr19:13319810 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6306G>A (p.Arg2102=) single nucleotide variant Episodic ataxia type 2 [RCV002169583] Chr19:13210650 [GRCh38]
Chr19:13321464 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5840-15dup duplication Episodic ataxia type 2 [RCV002095738] Chr19:13214347..13214348 [GRCh38]
Chr19:13325161..13325162 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2105-5dup duplication Episodic ataxia type 2 [RCV002134989] Chr19:13303617..13303618 [GRCh38]
Chr19:13414431..13414432 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4392C>A (p.Val1464=) single nucleotide variant Episodic ataxia type 2 [RCV002171336] Chr19:13257548 [GRCh38]
Chr19:13368362 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5839+20C>T single nucleotide variant Episodic ataxia type 2 [RCV002167826] Chr19:13214481 [GRCh38]
Chr19:13325295 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6696G>A (p.Arg2232=) single nucleotide variant Episodic ataxia type 2 [RCV002173386] Chr19:13208840 [GRCh38]
Chr19:13319654 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3051G>A (p.Ala1017=) single nucleotide variant Episodic ataxia type 2 [RCV002213954] Chr19:13298582 [GRCh38]
Chr19:13409396 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5067+11G>A single nucleotide variant Episodic ataxia type 2 [RCV002075859] Chr19:13235603 [GRCh38]
Chr19:13346417 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5940+14C>A single nucleotide variant Episodic ataxia type 2 [RCV002095487] Chr19:13214219 [GRCh38]
Chr19:13325033 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4860G>A (p.Gly1620=) single nucleotide variant Episodic ataxia type 2 [RCV002135054] Chr19:13252997 [GRCh38]
Chr19:13363811 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.632-3dup duplication Episodic ataxia type 2 [RCV002132199] Chr19:13365471..13365472 [GRCh38]
Chr19:13476285..13476286 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4867-18T>C single nucleotide variant Episodic ataxia type 2 [RCV002077113] Chr19:13245283 [GRCh38]
Chr19:13356097 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5859dup (p.Lys1954fs) duplication not provided [RCV002214094] Chr19:13214313..13214314 [GRCh38]
Chr19:13325127..13325128 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3644A>G (p.Lys1215Arg) single nucleotide variant not provided [RCV002214095] Chr19:13285116 [GRCh38]
Chr19:13395930 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.573A>G (p.Leu191=) single nucleotide variant Episodic ataxia type 2 [RCV002114292] Chr19:13371746 [GRCh38]
Chr19:13482560 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3822+20C>A single nucleotide variant Episodic ataxia type 2 [RCV002095798] Chr19:13283247 [GRCh38]
Chr19:13394061 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3435C>T (p.Ile1145=) single nucleotide variant Episodic ataxia type 2 [RCV002215200] Chr19:13286621 [GRCh38]
Chr19:13397435 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1120C>A (p.Arg374=) single nucleotide variant Episodic ataxia type 2 [RCV002171692] Chr19:13334456 [GRCh38]
Chr19:13445270 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2568C>T (p.Asp856=) single nucleotide variant Episodic ataxia type 2 [RCV002096028] Chr19:13299065 [GRCh38]
Chr19:13409879 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2706C>T (p.Asp902=) single nucleotide variant Episodic ataxia type 2 [RCV002133129] Chr19:13298927 [GRCh38]
Chr19:13409741 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3883-20C>T single nucleotide variant Episodic ataxia type 2 [RCV002092997] Chr19:13275976 [GRCh38]
Chr19:13386790 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.867C>T (p.Pro289=) single nucleotide variant Episodic ataxia type 2 [RCV002213920] Chr19:13359717 [GRCh38]
Chr19:13470531 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2781C>T (p.Asp927=) single nucleotide variant Episodic ataxia type 2 [RCV002173037] Chr19:13298852 [GRCh38]
Chr19:13409666 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4824C>T (p.Phe1608=) single nucleotide variant Episodic ataxia type 2 [RCV002092708] Chr19:13253033 [GRCh38]
Chr19:13363847 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.400-18G>T single nucleotide variant Episodic ataxia type 2 [RCV002206510] Chr19:13453033 [GRCh38]
Chr19:13563847 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1971A>T (p.Ile657=) single nucleotide variant Episodic ataxia type 2 [RCV002076272] Chr19:13307797 [GRCh38]
Chr19:13418611 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6050+15T>C single nucleotide variant Episodic ataxia type 2 [RCV002194813] Chr19:13212616 [GRCh38]
Chr19:13323430 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4950+15A>C single nucleotide variant Episodic ataxia type 2 [RCV002133778] Chr19:13245167 [GRCh38]
Chr19:13355981 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2280-16G>A single nucleotide variant Episodic ataxia type 2 [RCV002115633] Chr19:13299369 [GRCh38]
Chr19:13410183 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1371T>C (p.Ile457=) single nucleotide variant Episodic ataxia type 2 [RCV002193136] Chr19:13317296 [GRCh38]
Chr19:13428110 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-1152C>T single nucleotide variant Episodic ataxia type 2 [RCV002077698] Chr19:13228679 [GRCh38]
Chr19:13339493 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.422T>C (p.Ile141Thr) single nucleotide variant not provided [RCV002214096] Chr19:13452993 [GRCh38]
Chr19:13563807 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6304-14T>C single nucleotide variant Episodic ataxia type 2 [RCV002152419] Chr19:13210666 [GRCh38]
Chr19:13321480 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2155G>A (p.Ala719Thr) single nucleotide variant Episodic ataxia type 2 [RCV003774630]|not provided [RCV002210958] Chr19:13303563 [GRCh38]
Chr19:13414377 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1346-7C>A single nucleotide variant Episodic ataxia type 2 [RCV002130879] Chr19:13317328 [GRCh38]
Chr19:13428142 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.539+11C>T single nucleotide variant Episodic ataxia type 2 [RCV002093027] Chr19:13452865 [GRCh38]
Chr19:13563679 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1986+19C>A single nucleotide variant Episodic ataxia type 2 [RCV002211596] Chr19:13307763 [GRCh38]
Chr19:13418577 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.210C>T (p.Asn70=) single nucleotide variant Episodic ataxia type 2 [RCV002132674] Chr19:13506015 [GRCh38]
Chr19:13616829 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.540-20T>C single nucleotide variant Episodic ataxia type 2 [RCV002134411]|not specified [RCV003403716] Chr19:13371799 [GRCh38]
Chr19:13482613 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6190-18T>C single nucleotide variant Episodic ataxia type 2 [RCV002086283] Chr19:13212234 [GRCh38]
Chr19:13323048 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5898G>A (p.Arg1966=) single nucleotide variant Episodic ataxia type 2 [RCV002206980] Chr19:13214275 [GRCh38]
Chr19:13325089 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1122G>A (p.Arg374=) single nucleotide variant Episodic ataxia type 2 [RCV002146750] Chr19:13334454 [GRCh38]
Chr19:13445268 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3411C>T (p.Pro1137=) single nucleotide variant Episodic ataxia type 2 [RCV002212820] Chr19:13286645 [GRCh38]
Chr19:13397459 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6780+13_6780+14delinsTT indel Episodic ataxia type 2 [RCV002094611] Chr19:13208742..13208743 [GRCh38]
Chr19:13319556..13319557 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1782-14G>C single nucleotide variant Episodic ataxia type 2 [RCV002215711] Chr19:13308265 [GRCh38]
Chr19:13419079 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2232G>A (p.Glu744=) single nucleotide variant Episodic ataxia type 2 [RCV002171969] Chr19:13300597 [GRCh38]
Chr19:13411411 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1556-12T>C single nucleotide variant Episodic ataxia type 2 [RCV002171992] Chr19:13312793 [GRCh38]
Chr19:13423607 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6357C>T (p.Ser2119=) single nucleotide variant Episodic ataxia type 2 [RCV002097125] Chr19:13209481 [GRCh38]
Chr19:13320295 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6303+14C>T single nucleotide variant Episodic ataxia type 2 [RCV002093845] Chr19:13212089 [GRCh38]
Chr19:13322903 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5520C>T (p.Pro1840=) single nucleotide variant Episodic ataxia type 2 [RCV002173889] Chr19:13230090 [GRCh38]
Chr19:13340904 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.294-15T>A single nucleotide variant Episodic ataxia type 2 [RCV002134805] Chr19:13455227 [GRCh38]
Chr19:13566041 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5775G>A (p.Glu1925=) single nucleotide variant Episodic ataxia type 2 [RCV002171258] Chr19:13214565 [GRCh38]
Chr19:13325379 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3528C>A (p.Pro1176=) single nucleotide variant Episodic ataxia type 2 [RCV002172784] Chr19:13286528 [GRCh38]
Chr19:13397342 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6051-11C>A single nucleotide variant Episodic ataxia type 2 [RCV002103670] Chr19:13212533 [GRCh38]
Chr19:13323347 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6050+9C>T single nucleotide variant Episodic ataxia type 2 [RCV002135409] Chr19:13212622 [GRCh38]
Chr19:13323436 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2280-17dup duplication Episodic ataxia type 2 [RCV002154028] Chr19:13299369..13299370 [GRCh38]
Chr19:13410183..13410184 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala) single nucleotide variant Episodic ataxia type 2 [RCV002227404] Chr19:13230193 [GRCh38]
Chr19:13341007 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2279+12del deletion Episodic ataxia type 2 [RCV002100100] Chr19:13300538 [GRCh38]
Chr19:13411352 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3515del (p.Pro1172fs) deletion not specified [RCV002247043] Chr19:13286541 [GRCh38]
Chr19:13397355 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6321A>C (p.Pro2107=) single nucleotide variant Episodic ataxia type 2 [RCV002135762] Chr19:13210635 [GRCh38]
Chr19:13321449 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6050+23A>C single nucleotide variant not provided [RCV002245091] Chr19:13212608 [GRCh38]
Chr19:13323422 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6780+7G>A single nucleotide variant Episodic ataxia type 2 [RCV002218745] Chr19:13208749 [GRCh38]
Chr19:13319563 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127221.2(CACNA1A):c.6659_6660delinsGC (p.His2220Arg) indel Episodic ataxia type 2 [RCV003774639]|not provided [RCV002221771]   uncertain significance
NM_001127222.2(CACNA1A):c.2377C>T (p.Leu793=) single nucleotide variant Episodic ataxia type 2 [RCV002154887] Chr19:13299256 [GRCh38]
Chr19:13410070 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.978+12T>C single nucleotide variant Episodic ataxia type 2 [RCV002118493] Chr19:13359594 [GRCh38]
Chr19:13470408 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1533C>A (p.Pro511=) single nucleotide variant Episodic ataxia type 2 [RCV002082356] Chr19:13317134 [GRCh38]
Chr19:13427948 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2133C>T (p.Ile711=) single nucleotide variant Episodic ataxia type 2 [RCV002100919] Chr19:13303585 [GRCh38]
Chr19:13414399 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.784+11G>A single nucleotide variant Episodic ataxia type 2 [RCV002219531] Chr19:13365306 [GRCh38]
Chr19:13476120 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3501A>G (p.Thr1167=) single nucleotide variant Episodic ataxia type 2 [RCV002099113]|Inborn genetic diseases [RCV002454501] Chr19:13286555 [GRCh38]
Chr19:13397369 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5001C>T (p.Leu1667=) single nucleotide variant Episodic ataxia type 2 [RCV002101026] Chr19:13235680 [GRCh38]
Chr19:13346494 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6699G>A (p.Pro2233=) single nucleotide variant Episodic ataxia type 2 [RCV002201049] Chr19:13208837 [GRCh38]
Chr19:13319651 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3347C>T (p.Pro1116Leu) single nucleotide variant Episodic ataxia type 2 [RCV002138583] Chr19:13286709 [GRCh38]
Chr19:13397523 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.78C>G (p.Gly26=) single nucleotide variant Episodic ataxia type 2 [RCV002157495] Chr19:13506147 [GRCh38]
Chr19:13616961 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6050+14del deletion Episodic ataxia type 2 [RCV002218396] Chr19:13212617 [GRCh38]
Chr19:13323431 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2622G>A (p.Ser874=) single nucleotide variant Episodic ataxia type 2 [RCV002119515] Chr19:13299011 [GRCh38]
Chr19:13409825 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6771G>T (p.Ala2257=) single nucleotide variant Episodic ataxia type 2 [RCV002177673]|Inborn genetic diseases [RCV002361436] Chr19:13208765 [GRCh38]
Chr19:13319579 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2784C>G (p.Pro928=) single nucleotide variant Episodic ataxia type 2 [RCV002216927] Chr19:13298849 [GRCh38]
Chr19:13409663 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.400-14T>A single nucleotide variant Episodic ataxia type 2 [RCV002081772] Chr19:13453029 [GRCh38]
Chr19:13563843 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-1153C>T single nucleotide variant Episodic ataxia type 2 [RCV002137699] Chr19:13228680 [GRCh38]
Chr19:13339494 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1782-19G>A single nucleotide variant Episodic ataxia type 2 [RCV002183317] Chr19:13308270 [GRCh38]
Chr19:13419084 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.234C>T (p.Leu78=) single nucleotide variant Episodic ataxia type 2 [RCV002163613] Chr19:13505991 [GRCh38]
Chr19:13616805 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.294-17C>T single nucleotide variant Episodic ataxia type 2 [RCV002081852] Chr19:13455229 [GRCh38]
Chr19:13566043 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3984C>T (p.Ala1328=) single nucleotide variant Episodic ataxia type 2 [RCV002121980] Chr19:13275855 [GRCh38]
Chr19:13386669 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6606C>T (p.Pro2202=) single nucleotide variant Episodic ataxia type 2 [RCV002120212] Chr19:13208930 [GRCh38]
Chr19:13319744 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4590+12A>G single nucleotide variant Episodic ataxia type 2 [RCV002163826] Chr19:13257338 [GRCh38]
Chr19:13368152 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1899A>G (p.Gln633=) single nucleotide variant CACNA1A-related disorder [RCV003985551]|Episodic ataxia type 2 [RCV002163909]|not provided [RCV003883790] Chr19:13308134 [GRCh38]
Chr19:13418948 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3883-6C>T single nucleotide variant Episodic ataxia type 2 [RCV002200492] Chr19:13275962 [GRCh38]
Chr19:13386776 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr) single nucleotide variant Episodic ataxia type 2 [RCV002227402]|Episodic ataxia type 2 [RCV003774680] Chr19:13257421 [GRCh38]
Chr19:13368235 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro) single nucleotide variant CACNA1A-associated disorder [RCV003314034]|Episodic ataxia type 2 [RCV002227403]|Episodic ataxia type 2 [RCV003234171] Chr19:13262792 [GRCh38]
Chr19:13373606 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|not provided
NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu) single nucleotide variant Episodic ataxia type 2 [RCV002227407] Chr19:13303772 [GRCh38]
Chr19:13414586 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr) single nucleotide variant Episodic ataxia type 2 [RCV002227411] Chr19:13235222 [GRCh38]
Chr19:13346036 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1914-7C>T single nucleotide variant Episodic ataxia type 2 [RCV002178269] Chr19:13307861 [GRCh38]
Chr19:13418675 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6501G>T (p.Leu2167=) single nucleotide variant Episodic ataxia type 2 [RCV002204817] Chr19:13209337 [GRCh38]
Chr19:13320151 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1668+11T>C single nucleotide variant Episodic ataxia type 2 [RCV002201182] Chr19:13312658 [GRCh38]
Chr19:13423472 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4740C>T (p.Ile1580=) single nucleotide variant Episodic ataxia type 2 [RCV002160716] Chr19:13255110 [GRCh38]
Chr19:13365924 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1082+17C>T single nucleotide variant Episodic ataxia type 2 [RCV002144066] Chr19:13335789 [GRCh38]
Chr19:13446603 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1215C>G (p.Ala405=) single nucleotide variant Episodic ataxia type 2 [RCV002081331] Chr19:13332909 [GRCh38]
Chr19:13443723 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4090-4A>G single nucleotide variant Episodic ataxia type 2 [RCV002163009] Chr19:13261614 [GRCh38]
Chr19:13372428 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6190-13A>G single nucleotide variant Episodic ataxia type 2 [RCV002163011] Chr19:13212229 [GRCh38]
Chr19:13323043 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-1272T>G single nucleotide variant Episodic ataxia type 2 [RCV002103616] Chr19:13228799 [GRCh38]
Chr19:13339613 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1644T>C (p.Ser548=) single nucleotide variant Episodic ataxia type 2 [RCV002184623] Chr19:13312693 [GRCh38]
Chr19:13423507 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1556-17C>T single nucleotide variant Episodic ataxia type 2 [RCV002118002] Chr19:13312798 [GRCh38]
Chr19:13423612 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.631+15G>A single nucleotide variant Episodic ataxia type 2 [RCV002142905] Chr19:13371673 [GRCh38]
Chr19:13482487 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4881T>C (p.Asp1627=) single nucleotide variant Episodic ataxia type 2 [RCV002141341] Chr19:13245251 [GRCh38]
Chr19:13356065 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.978+10G>T single nucleotide variant Episodic ataxia type 2 [RCV002143451] Chr19:13359596 [GRCh38]
Chr19:13470410 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.539+12G>A single nucleotide variant Episodic ataxia type 2 [RCV002143591] Chr19:13452864 [GRCh38]
Chr19:13563678 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1987-17T>C single nucleotide variant Episodic ataxia type 2 [RCV002082821] Chr19:13303901 [GRCh38]
Chr19:13414715 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4250+15T>C single nucleotide variant Episodic ataxia type 2 [RCV002218048] Chr19:13261435 [GRCh38]
Chr19:13372249 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4090-16C>G single nucleotide variant Episodic ataxia type 2 [RCV002137084] Chr19:13261626 [GRCh38]
Chr19:13372440 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1977G>A (p.Thr659=) single nucleotide variant Episodic ataxia type 2 [RCV002180700] Chr19:13307791 [GRCh38]
Chr19:13418605 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4500C>T (p.Phe1500=) single nucleotide variant Episodic ataxia type 2 [RCV002175299] Chr19:13257440 [GRCh38]
Chr19:13368254 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1256-19C>T single nucleotide variant Episodic ataxia type 2 [RCV002155747] Chr19:13330352 [GRCh38]
Chr19:13441166 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4389-15C>T single nucleotide variant Episodic ataxia type 2 [RCV002119427] Chr19:13257566 [GRCh38]
Chr19:13368380 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5626-11G>T single nucleotide variant Episodic ataxia type 2 [RCV002123373] Chr19:13224783 [GRCh38]
Chr19:13335597 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5731+14_5731+15del deletion Episodic ataxia type 2 [RCV002198114] Chr19:13224652..13224653 [GRCh38]
Chr19:13335466..13335467 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5313T>C (p.Asp1771=) single nucleotide variant Episodic ataxia type 2 [RCV002161901] Chr19:13231797 [GRCh38]
Chr19:13342611 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.784+16A>T single nucleotide variant Episodic ataxia type 2 [RCV002218699] Chr19:13365301 [GRCh38]
Chr19:13476115 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6304-18C>T single nucleotide variant Episodic ataxia type 2 [RCV002177875] Chr19:13210670 [GRCh38]
Chr19:13321484 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1716T>C (p.Pro572=) single nucleotide variant Episodic ataxia type 2 [RCV002141496] Chr19:13308481 [GRCh38]
Chr19:13419295 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3883-18C>T single nucleotide variant Episodic ataxia type 2 [RCV002122035] Chr19:13275974 [GRCh38]
Chr19:13386788 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3822+15G>C single nucleotide variant Episodic ataxia type 2 [RCV002198847] Chr19:13283252 [GRCh38]
Chr19:13394066 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4950+15A>G single nucleotide variant Episodic ataxia type 2 [RCV002118760] Chr19:13245167 [GRCh38]
Chr19:13355981 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3243C>G (p.Pro1081=) single nucleotide variant Episodic ataxia type 2 [RCV002162748] Chr19:13286813 [GRCh38]
Chr19:13397627 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6648C>T (p.His2216=) single nucleotide variant Episodic ataxia type 2 [RCV002144212] Chr19:13208888 [GRCh38]
Chr19:13319702 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6526+16G>A single nucleotide variant Episodic ataxia type 2 [RCV002204751] Chr19:13209296 [GRCh38]
Chr19:13320110 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1913+8C>T single nucleotide variant CACNA1A-related disorder [RCV003985544]|Episodic ataxia type 2 [RCV002182560] Chr19:13308112 [GRCh38]
Chr19:13418926 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2866C>A (p.Arg956=) single nucleotide variant Episodic ataxia type 2 [RCV002157359] Chr19:13298767 [GRCh38]
Chr19:13409581 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.400-19T>C single nucleotide variant Episodic ataxia type 2 [RCV002184699] Chr19:13453034 [GRCh38]
Chr19:13563848 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1416G>A (p.Glu472=) single nucleotide variant Episodic ataxia type 2 [RCV002184802] Chr19:13317251 [GRCh38]
Chr19:13428065 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.384G>A (p.Pro128=) single nucleotide variant Episodic ataxia type 2 [RCV003110597]|not provided [RCV003222482] Chr19:13455122 [GRCh38]
Chr19:13565936 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.400-1G>A single nucleotide variant not provided [RCV003110063] Chr19:13453016 [GRCh38]
Chr19:13563830 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5133+9C>T single nucleotide variant Episodic ataxia type 2 [RCV003117982] Chr19:13235200 [GRCh38]
Chr19:13346014 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1951G>A (p.Asp651Asn) single nucleotide variant Episodic ataxia type 2 [RCV003112406] Chr19:13307817 [GRCh38]
Chr19:13418631 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6652C>T (p.His2218Tyr) single nucleotide variant Episodic ataxia type 2 [RCV003116046] Chr19:13208884 [GRCh38]
Chr19:13319698 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1556-4C>G single nucleotide variant Episodic ataxia type 2 [RCV003115699] Chr19:13312785 [GRCh38]
Chr19:13423599 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3978C>T (p.Ala1326=) single nucleotide variant Episodic ataxia type 2 [RCV003115100] Chr19:13275861 [GRCh38]
Chr19:13386675 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2594A>T (p.His865Leu) single nucleotide variant Episodic ataxia type 2 [RCV003121480] Chr19:13299039 [GRCh38]
Chr19:13409853 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4807G>T (p.Val1603Phe) single nucleotide variant Episodic ataxia type 2 [RCV003148033] Chr19:13253050 [GRCh38]
Chr19:13363864 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.37G>C (p.Gly13Arg) single nucleotide variant not provided [RCV003149297] Chr19:13506188 [GRCh38]
Chr19:13617002 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2899G>A (p.Glu967Lys) single nucleotide variant Episodic ataxia type 2 [RCV002243578] Chr19:13298734 [GRCh38]
Chr19:13409548 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6189+1G>A single nucleotide variant Episodic ataxia type 2 [RCV003774696]|not provided [RCV002244485] Chr19:13212383 [GRCh38]
Chr19:13323197 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro) single nucleotide variant Episodic ataxia type 2 [RCV002227410] Chr19:13365449 [GRCh38]
Chr19:13476263 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6666_6672del (p.Pro2223fs) deletion not provided [RCV003156446] Chr19:13208864..13208870 [GRCh38]
Chr19:13319678..13319684 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu) single nucleotide variant Episodic ataxia type 2 [RCV002227405] Chr19:13275891 [GRCh38]
Chr19:13386705 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6304-3C>T single nucleotide variant Episodic ataxia type 2 [RCV003774746]|See cases [RCV002253159] Chr19:13210655 [GRCh38]
Chr19:13321469 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3596A>G (p.Glu1199Gly) single nucleotide variant not provided [RCV003154351] Chr19:13285164 [GRCh38]
Chr19:13395978 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1762C>T (p.Arg588Cys) single nucleotide variant not provided [RCV002255047] Chr19:13308435 [GRCh38]
Chr19:13419249 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3431T>C (p.Leu1144Pro) single nucleotide variant not provided [RCV002251672] Chr19:13286625 [GRCh38]
Chr19:13397439 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.532C>G (p.Leu178Val) single nucleotide variant not provided [RCV003154444] Chr19:13452883 [GRCh38]
Chr19:13563697 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4261del (p.Leu1421fs) deletion Developmental and epileptic encephalopathy, 42 [RCV003233021] Chr19:13259691 [GRCh38]
Chr19:13370505 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3527C>A (p.Pro1176His) single nucleotide variant not provided [RCV003237106] Chr19:13286529 [GRCh38]
Chr19:13397343 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2764C>T (p.Arg922Ter) single nucleotide variant not provided [RCV002279070] Chr19:13298869 [GRCh38]
Chr19:13409683 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs) duplication Developmental and epileptic encephalopathy, 42 [RCV002274467] Chr19:13299033..13299034 [GRCh38]
Chr19:13409847..13409848 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.7491C>T (p.Pro2497=) single nucleotide variant not provided [RCV002263140] Chr19:13207343 [GRCh38]
Chr19:13318157 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6974_6976dup (p.Gln2325_Ala2326insGlu) duplication CACNA1A-related disorder [RCV003985554]|Inborn genetic diseases [RCV003164380]|not provided [RCV002263144] Chr19:13207857..13207858 [GRCh38]
Chr19:13318671..13318672 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.6937CAG[8] (p.Gln2321_Gln2325del) microsatellite not provided [RCV002263145] Chr19:13207859..13207873 [GRCh38]
Chr19:13318673..13318687 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.3822+70A>G single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002275587] Chr19:13283197 [GRCh38]
Chr19:13394011 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3705G>A (p.Leu1235=) single nucleotide variant Episodic ataxia type 2 [RCV003108017]|Inborn genetic diseases [RCV002348980] Chr19:13283384 [GRCh38]
Chr19:13394198 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2549G>A (p.Gly850Asp) single nucleotide variant not provided [RCV002273522] Chr19:13299084 [GRCh38]
Chr19:13409898 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4493C>G (p.Pro1498Arg) single nucleotide variant Neurodevelopmental delay [RCV002274323] Chr19:13257447 [GRCh38]
Chr19:13368261 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1870A>T (p.Ile624Phe) single nucleotide variant Spinocerebellar ataxia type 6 [RCV002273848] Chr19:13308163 [GRCh38]
Chr19:13418977 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.538G>T (p.Gly180Cys) single nucleotide variant Neurodevelopmental delay [RCV002274322] Chr19:13452877 [GRCh38]
Chr19:13563691 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.4783_4786delinsCA (p.Asn1595fs) indel not provided [RCV002276410] Chr19:13253071..13253074 [GRCh38]
Chr19:13363885..13363888 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4527C>G (p.Ile1509Met) single nucleotide variant not provided [RCV002274701] Chr19:13257413 [GRCh38]
Chr19:13368227 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2602G>A (p.Ala868Thr) single nucleotide variant Episodic ataxia type 2 [RCV003774880]|not provided [RCV002275808] Chr19:13299031 [GRCh38]
Chr19:13409845 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1198+4A>G single nucleotide variant Episodic ataxia type 2 [RCV002290186] Chr19:13334374 [GRCh38]
Chr19:13445188 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5068G>A (p.Ala1690Thr) single nucleotide variant not provided [RCV002281349] Chr19:13235274 [GRCh38]
Chr19:13346088 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6965A>G (p.Gln2322Arg) single nucleotide variant not provided [RCV002263146] Chr19:13207869 [GRCh38]
Chr19:13318683 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2657G>A (p.Ser886Asn) single nucleotide variant not provided [RCV002276411] Chr19:13298976 [GRCh38]
Chr19:13409790 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3643A>G (p.Lys1215Glu) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002276495] Chr19:13285117 [GRCh38]
Chr19:13395931 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6365A>G (p.Lys2122Arg) single nucleotide variant not provided [RCV002267363] Chr19:13209473 [GRCh38]
Chr19:13320287 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3820A>G (p.Asn1274Asp) single nucleotide variant Episodic ataxia type 2 [RCV003774852]|not provided [RCV002267367] Chr19:13283269 [GRCh38]
Chr19:13394083 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4194C>G (p.Phe1398Leu) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002280918] Chr19:13261506 [GRCh38]
Chr19:13372320 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7144G>T (p.Ala2382Ser) single nucleotide variant not provided [RCV002263143] Chr19:13207690 [GRCh38]
Chr19:13318504 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6660C>A (p.Pro2220=) single nucleotide variant not provided [RCV002263147] Chr19:13208876 [GRCh38]
Chr19:13319690 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3990-2A>C single nucleotide variant Migraine, familial hemiplegic, 1 [RCV002286483] Chr19:13262835 [GRCh38]
Chr19:13373649 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4314T>G (p.Tyr1438Ter) single nucleotide variant Episodic ataxia type 2 [RCV002282720] Chr19:13259638 [GRCh38]
Chr19:13370452 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1609A>C (p.Met537Leu) single nucleotide variant not provided [RCV002265365] Chr19:13312728 [GRCh38]
Chr19:13423542 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6155del (p.Pro2052fs) deletion not provided [RCV002265397] Chr19:13212418 [GRCh38]
Chr19:13323232 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6205G>A (p.Glu2069Lys) single nucleotide variant Episodic ataxia type 2 [RCV003774837]|not provided [RCV002265535] Chr19:13212201 [GRCh38]
Chr19:13323015 [GRCh37]
Chr19:19p13.13		 uncertain significance|not provided
NM_001127222.2(CACNA1A):c.4702G>A (p.Glu1568Lys) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV002290152] Chr19:13255148 [GRCh38]
Chr19:13365962 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1096G>A (p.Glu366Lys) single nucleotide variant not provided [RCV003236043] Chr19:13334480 [GRCh38]
Chr19:13445294 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6682T>C (p.Tyr2228His) single nucleotide variant not provided [RCV003236061] Chr19:13208854 [GRCh38]
Chr19:13319668 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3698G>A (p.Arg1233His) single nucleotide variant not provided [RCV003236089] Chr19:13283391 [GRCh38]
Chr19:13394205 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6862del (p.Gln2288fs) deletion Developmental and epileptic encephalopathy, 42 [RCV002273134] Chr19:13207972 [GRCh38]
Chr19:13318786 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6650A>G (p.His2217Arg) single nucleotide variant Inborn genetic diseases [RCV002366867] Chr19:13208886 [GRCh38]
Chr19:13319700 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2933G>C (p.Arg978Pro) single nucleotide variant not provided [RCV002293951] Chr19:13298700 [GRCh38]
Chr19:13409514 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2270C>G (p.Ser757Cys) single nucleotide variant not specified [RCV003236479] Chr19:13300559 [GRCh38]
Chr19:13411373 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3451G>C (p.Gly1151Arg) single nucleotide variant Inborn genetic diseases [RCV004285659]|not provided [RCV003236220] Chr19:13286605 [GRCh38]
Chr19:13397419 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7391C>T (p.Ser2464Leu) single nucleotide variant not provided [RCV002263141] Chr19:13207443 [GRCh38]
Chr19:13318257 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.124C>T (p.Pro42Ser) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003147744]|not provided [RCV002260779] Chr19:13506101 [GRCh38]
Chr19:13616915 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1016A>G (p.Tyr339Cys) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002289105] Chr19:13335872 [GRCh38]
Chr19:13446686 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7344C>G (p.Thr2448=) single nucleotide variant not provided [RCV002263142] Chr19:13207490 [GRCh38]
Chr19:13318304 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1027C>T (p.Leu343Phe) single nucleotide variant not provided [RCV002263150] Chr19:13335861 [GRCh38]
Chr19:13446675 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6005G>C (p.Gly2002Ala) single nucleotide variant not provided [RCV002263148] Chr19:13212676 [GRCh38]
Chr19:13323490 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2974G>T (p.Glu992Ter) single nucleotide variant not provided [RCV002263149] Chr19:13298659 [GRCh38]
Chr19:13409473 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5171A>G (p.Asp1724Gly) single nucleotide variant not provided [RCV002290894] Chr19:13234999 [GRCh38]
Chr19:13345813 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5250-2A>G single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002291184] Chr19:13231862 [GRCh38]
Chr19:13342676 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6340-1G>C single nucleotide variant not provided [RCV002293651] Chr19:13209499 [GRCh38]
Chr19:13320313 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1282del (p.Ser428fs) deletion Developmental and epileptic encephalopathy, 42 [RCV002289240] Chr19:13330307 [GRCh38]
Chr19:13441121 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.5165A>G (p.Asp1722Gly) single nucleotide variant Episodic ataxia type 2 [RCV003774930]|not provided [RCV002283306] Chr19:13235005 [GRCh38]
Chr19:13345819 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4270G>T (p.Glu1424Ter) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002288322] Chr19:13259682 [GRCh38]
Chr19:13370496 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.34T>C (p.Tyr12His) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002289278]|Episodic ataxia type 2 [RCV003097775] Chr19:13506191 [GRCh38]
Chr19:13617005 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1136T>G (p.Leu379Arg) single nucleotide variant not provided [RCV002285780] Chr19:13334440 [GRCh38]
Chr19:13445254 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2867G>C (p.Arg956Pro) single nucleotide variant Episodic ataxia type 2 [RCV003102807]|Inborn genetic diseases [RCV002437677] Chr19:13298766 [GRCh38]
Chr19:13409580 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4208T>C (p.Phe1403Ser) single nucleotide variant Neurodevelopmental delay [RCV002274321] Chr19:13261492 [GRCh38]
Chr19:13372306 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6658_6659insACCACC (p.His2219_Pro2220insHisHis) insertion Episodic ataxia type 2 [RCV003098325]|Inborn genetic diseases [RCV002366902] Chr19:13208877..13208878 [GRCh38]
Chr19:13319691..13319692 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6663G>C (p.Pro2221=) single nucleotide variant Inborn genetic diseases [RCV002366917]|not provided [RCV002511163] Chr19:13208873 [GRCh38]
Chr19:13319687 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4515T>G (p.Phe1505Leu) single nucleotide variant Episodic ataxia type 2 [RCV002265530] Chr19:13257425 [GRCh38]
Chr19:13368239 [GRCh37]
Chr19:19p13.13		 not provided
NM_001127222.2(CACNA1A):c.922G>C (p.Val308Leu) single nucleotide variant not provided [RCV002269585] Chr19:13359662 [GRCh38]
Chr19:13470476 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.665C>T (p.Ala222Val) single nucleotide variant Inborn genetic diseases [RCV002366890] Chr19:13365436 [GRCh38]
Chr19:13476250 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.354G>C (p.Glu118Asp) single nucleotide variant not provided [RCV002263151] Chr19:13455152 [GRCh38]
Chr19:13565966 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5460C>T (p.Ser1820=) single nucleotide variant Episodic ataxia type 2 [RCV003096750]|Inborn genetic diseases [RCV002349731] Chr19:13230150 [GRCh38]
Chr19:13340964 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-1264C>T single nucleotide variant Episodic ataxia type 2 [RCV003108036]|Inborn genetic diseases [RCV002351858] Chr19:13228791 [GRCh38]
Chr19:13339605 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2608G>T (p.Asp870Tyr) single nucleotide variant Inborn genetic diseases [RCV002437184] Chr19:13299025 [GRCh38]
Chr19:13409839 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6669C>G (p.Pro2223=) single nucleotide variant Inborn genetic diseases [RCV002366970] Chr19:13208867 [GRCh38]
Chr19:13319681 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3365G>T (p.Arg1122Leu) single nucleotide variant Episodic ataxia type 2 [RCV003099428]|Inborn genetic diseases [RCV002454816] Chr19:13286691 [GRCh38]
Chr19:13397505 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2877C>A (p.Arg959=) single nucleotide variant Inborn genetic diseases [RCV002437795] Chr19:13298756 [GRCh38]
Chr19:13409570 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6756C>G (p.Gly2252=) single nucleotide variant Inborn genetic diseases [RCV002369246] Chr19:13208780 [GRCh38]
Chr19:13319594 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.784+3A>G single nucleotide variant not provided [RCV002292984] Chr19:13365314 [GRCh38]
Chr19:13476128 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6265C>T (p.Arg2089Trp) single nucleotide variant Episodic ataxia type 2 [RCV003098184]|Inborn genetic diseases [RCV002368640]|not provided [RCV003408248] Chr19:13212141 [GRCh38]
Chr19:13322955 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3169del (p.Gln1057fs) deletion not provided [RCV002286983] Chr19:13286887 [GRCh38]
Chr19:13397701 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6720T>G (p.Ala2240=) single nucleotide variant Inborn genetic diseases [RCV002367251] Chr19:13208816 [GRCh38]
Chr19:13319630 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3868G>C (p.Glu1290Gln) single nucleotide variant not provided [RCV002278936] Chr19:13277083 [GRCh38]
Chr19:13387897 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1000A>G (p.Thr334Ala) single nucleotide variant Inborn genetic diseases [RCV002452464] Chr19:13335888 [GRCh38]
Chr19:13446702 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6627_6632dup (p.His2210_His2211insGlnHis) duplication not provided [RCV003128970] Chr19:13208903..13208904 [GRCh38]
Chr19:13319717..13319718 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.673C>T (p.Pro225Ser) single nucleotide variant Episodic ataxia type 2 [RCV003147939] Chr19:13365428 [GRCh38]
Chr19:13476242 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6490G>C (p.Glu2164Gln) single nucleotide variant not provided [RCV003156530] Chr19:13209348 [GRCh38]
Chr19:13320162 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2986C>G (p.Pro996Ala) single nucleotide variant not provided [RCV003156625] Chr19:13298647 [GRCh38]
Chr19:13409461 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6278T>C (p.Met2093Thr) single nucleotide variant not provided [RCV003149480] Chr19:13212128 [GRCh38]
Chr19:13322942 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.116G>A (p.Gly39Asp) single nucleotide variant not provided [RCV003129188] Chr19:13506109 [GRCh38]
Chr19:13616923 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.967CTC[1] (p.Leu324del) microsatellite not provided [RCV002474272] Chr19:13359612..13359614 [GRCh38]
Chr19:13470426..13470428 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5552T>C (p.Met1851Thr) single nucleotide variant not provided [RCV002474275] Chr19:13227504 [GRCh38]
Chr19:13338318 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2955_2958dup (p.Arg987fs) microsatellite not provided [RCV002474294] Chr19:13298674..13298675 [GRCh38]
Chr19:13409488..13409489 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6627G>C (p.Gln2209His) single nucleotide variant Episodic ataxia type 2 [RCV003775535]|not provided [RCV002474204] Chr19:13208909 [GRCh38]
Chr19:13319723 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2293A>G (p.Lys765Glu) single nucleotide variant Episodic ataxia type 2 [RCV002466829] Chr19:13299340 [GRCh38]
Chr19:13410154 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.781A>G (p.Thr261Ala) single nucleotide variant not provided [RCV002474242] Chr19:13365320 [GRCh38]
Chr19:13476134 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7322G>A (p.Arg2441Gln) single nucleotide variant not provided [RCV002475060] Chr19:13207512 [GRCh38]
Chr19:13318326 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2896del (p.Glu966fs) deletion not provided [RCV002474311] Chr19:13298737 [GRCh38]
Chr19:13409551 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1504T>C (p.Cys502Arg) single nucleotide variant not provided [RCV002474324] Chr19:13317163 [GRCh38]
Chr19:13427977 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002472103] Chr19:13334470 [GRCh38]
Chr19:13445284 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5021del (p.Gly1674fs) deletion Developmental and epileptic encephalopathy, 42 [RCV002472158] Chr19:13235660 [GRCh38]
Chr19:13346474 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1555+5G>A single nucleotide variant not provided [RCV002474278] Chr19:13317107 [GRCh38]
Chr19:13427921 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1763G>A (p.Arg588His) single nucleotide variant not provided [RCV002474288] Chr19:13308434 [GRCh38]
Chr19:13419248 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2557_2586delinsGT (p.Arg853fs) indel not provided [RCV002474289] Chr19:13299047..13299076 [GRCh38]
Chr19:13409861..13409890 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.7087C>T (p.Arg2363Cys) single nucleotide variant Spinocerebellar ataxia type 6 [RCV002465089] Chr19:13207747 [GRCh38]
Chr19:13318561 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1108G>T (p.Val370Leu) single nucleotide variant not provided [RCV003152166] Chr19:13334468 [GRCh38]
Chr19:13445282 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1321C>T (p.Gln441Ter) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002468895] Chr19:13330268 [GRCh38]
Chr19:13441082 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.811C>G (p.Pro271Ala) single nucleotide variant not provided [RCV002474299] Chr19:13359773 [GRCh38]
Chr19:13470587 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5401-9T>A single nucleotide variant not provided [RCV002474305] Chr19:13230218 [GRCh38]
Chr19:13341032 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.202C>T (p.Arg68Ter) single nucleotide variant not provided [RCV002467206] Chr19:13506023 [GRCh38]
Chr19:13616837 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.7347G>A (p.Gly2449=) single nucleotide variant not provided [RCV002475061] Chr19:13207487 [GRCh38]
Chr19:13318301 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4950+3668C>T single nucleotide variant not provided [RCV002475063] Chr19:13241514 [GRCh38]
Chr19:13352328 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7282G>A (p.Glu2428Lys) single nucleotide variant not provided [RCV002475064] Chr19:13207552 [GRCh38]
Chr19:13318366 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7318_7332dup (p.Ser2444_Ser2445insValArgHisAlaSer) duplication not provided [RCV002475065] Chr19:13207501..13207502 [GRCh38]
Chr19:13318315..13318316 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7210C>G (p.Pro2404Ala) single nucleotide variant not provided [RCV002475066] Chr19:13207624 [GRCh38]
Chr19:13318438 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2903G>A (p.Gly968Asp) single nucleotide variant Inborn genetic diseases [RCV003103177]|not provided [RCV002464828] Chr19:13298730 [GRCh38]
Chr19:13409544 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4034G>T (p.Arg1345Leu) single nucleotide variant not provided [RCV002467181] Chr19:13262789 [GRCh38]
Chr19:13373603 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2471T>A (p.Val824Glu) single nucleotide variant not provided [RCV003149289] Chr19:13299162 [GRCh38]
Chr19:13409976 [GRCh37]
Chr19:19p13.13		 uncertain significance
GRCh37/hg19 19p13.2(chr19:13427805-13682946)x1 copy number loss not provided [RCV002472568] Chr19:13427805..13682946 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002471919]|not provided [RCV002473391] Chr19:13207516 [GRCh38]
Chr19:13318330 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1825T>A (p.Ser609Thr) single nucleotide variant not provided [RCV003237174] Chr19:13308208 [GRCh38]
Chr19:13419022 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6419T>G (p.Leu2140Arg) single nucleotide variant Episodic ataxia type 2 [RCV003779852]|not provided [RCV003235852] Chr19:13209419 [GRCh38]
Chr19:13320233 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1520A>G (p.His507Arg) single nucleotide variant not provided [RCV003235865] Chr19:13317147 [GRCh38]
Chr19:13427961 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2811G>C (p.Gly937=) single nucleotide variant Inborn genetic diseases [RCV002441739] Chr19:13298822 [GRCh38]
Chr19:13409636 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6435C>G (p.Pro2145=) single nucleotide variant Episodic ataxia type 2 [RCV003776257]|Inborn genetic diseases [RCV002361761] Chr19:13209403 [GRCh38]
Chr19:13320217 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5884del (p.Met1962fs) deletion Inborn genetic diseases [RCV002353550] Chr19:13214289 [GRCh38]
Chr19:13325103 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5654C>G (p.Ala1885Gly) single nucleotide variant Inborn genetic diseases [RCV002346592]|not provided [RCV002308893] Chr19:13224744 [GRCh38]
Chr19:13335558 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5978C>T (p.Pro1993Leu) single nucleotide variant Inborn genetic diseases [RCV002356151] Chr19:13212703 [GRCh38]
Chr19:13323517 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6056C>T (p.Ala2019Val) single nucleotide variant not specified [RCV002308679] Chr19:13212517 [GRCh38]
Chr19:13323331 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2404C>T (p.Arg802Cys) single nucleotide variant not provided [RCV002305925] Chr19:13299229 [GRCh38]
Chr19:13410043 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2524G>A (p.Glu842Lys) single nucleotide variant Inborn genetic diseases [RCV002433095] Chr19:13299109 [GRCh38]
Chr19:13409923 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5875A>G (p.Met1959Val) single nucleotide variant Inborn genetic diseases [RCV002353495] Chr19:13214298 [GRCh38]
Chr19:13325112 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2715C>G (p.Ala905=) single nucleotide variant Inborn genetic diseases [RCV002431234] Chr19:13298918 [GRCh38]
Chr19:13409732 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3089+3A>C single nucleotide variant Inborn genetic diseases [RCV002325813] Chr19:13298541 [GRCh38]
Chr19:13409355 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1695C>T (p.Val565=) single nucleotide variant Episodic ataxia type 2 [RCV003097131]|Inborn genetic diseases [RCV002406257] Chr19:13308502 [GRCh38]
Chr19:13419316 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1461C>T (p.Ala487=) single nucleotide variant Episodic ataxia type 2 [RCV003774343]|Inborn genetic diseases [RCV002396788] Chr19:13317206 [GRCh38]
Chr19:13428020 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.485G>T (p.Gly162Val) single nucleotide variant Inborn genetic diseases [RCV002340340] Chr19:13452930 [GRCh38]
Chr19:13563744 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1004G>A (p.Trp335Ter) single nucleotide variant not provided [RCV002306060] Chr19:13335884 [GRCh38]
Chr19:13446698 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3055_3057delinsGGA (p.Arg1019Gly) indel not provided [RCV002306178] Chr19:13298576..13298578 [GRCh38]
Chr19:13409390..13409392 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3590A>C (p.Lys1197Thr) single nucleotide variant not provided [RCV002300720] Chr19:13285170 [GRCh38]
Chr19:13395984 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2381A>G (p.Tyr794Cys) single nucleotide variant Episodic ataxia type 2 [RCV003775218]|Inborn genetic diseases [RCV002457923] Chr19:13299252 [GRCh38]
Chr19:13410066 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1267A>G (p.Thr423Ala) single nucleotide variant Inborn genetic diseases [RCV002449923] Chr19:13330322 [GRCh38]
Chr19:13441136 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4363G>C (p.Val1455Leu) single nucleotide variant Inborn genetic diseases [RCV002333469] Chr19:13259589 [GRCh38]
Chr19:13370403 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3058_3075dup (p.Arg1025_His1026insGluAspLysGluArgArg) duplication not provided [RCV002308835] Chr19:13298557..13298558 [GRCh38]
Chr19:13409371..13409372 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1271C>A (p.Thr424Asn) single nucleotide variant Inborn genetic diseases [RCV002450060] Chr19:13330318 [GRCh38]
Chr19:13441132 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2308G>A (p.Ala770Thr) single nucleotide variant Episodic ataxia type 2 [RCV003098800]|Inborn genetic diseases [RCV002428505]|not provided [RCV003427478] Chr19:13299325 [GRCh38]
Chr19:13410139 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.308T>C (p.Met103Thr) single nucleotide variant Inborn genetic diseases [RCV002325791] Chr19:13455198 [GRCh38]
Chr19:13566012 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5134-2A>C single nucleotide variant Inborn genetic diseases [RCV002344237] Chr19:13235038 [GRCh38]
Chr19:13345852 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.4612A>G (p.Ile1538Val) single nucleotide variant Episodic ataxia type 2 [RCV003096378]|Inborn genetic diseases [RCV002342485] Chr19:13255238 [GRCh38]
Chr19:13366052 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4326C>T (p.Tyr1442=) single nucleotide variant Episodic ataxia type 2 [RCV003094650]|Inborn genetic diseases [RCV002332084] Chr19:13259626 [GRCh38]
Chr19:13370440 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3025G>T (p.Ala1009Ser) single nucleotide variant not provided [RCV002306137] Chr19:13298608 [GRCh38]
Chr19:13409422 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3174C>G (p.Asp1058Glu) single nucleotide variant Episodic ataxia type 2 [RCV003099264]|Inborn genetic diseases [RCV002322693] Chr19:13286882 [GRCh38]
Chr19:13397696 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3108G>C (p.Gly1036=) single nucleotide variant Inborn genetic diseases [RCV002326096] Chr19:13286948 [GRCh38]
Chr19:13397762 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6745C>T (p.Pro2249Ser) single nucleotide variant not provided [RCV002308896] Chr19:13208791 [GRCh38]
Chr19:13319605 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5117C>T (p.Ala1706Val) single nucleotide variant not provided [RCV002306305] Chr19:13235225 [GRCh38]
Chr19:13346039 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6729G>A (p.Gln2243=) single nucleotide variant Inborn genetic diseases [RCV002377922] Chr19:13208807 [GRCh38]
Chr19:13319621 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3132G>A (p.Leu1044=) single nucleotide variant Inborn genetic diseases [RCV002320636] Chr19:13286924 [GRCh38]
Chr19:13397738 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.990C>T (p.Ala330=) single nucleotide variant Inborn genetic diseases [RCV002382791] Chr19:13335898 [GRCh38]
Chr19:13446712 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.564G>A (p.Glu188=) single nucleotide variant Inborn genetic diseases [RCV002345179] Chr19:13371755 [GRCh38]
Chr19:13482569 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.955G>C (p.Gly319Arg) single nucleotide variant Inborn genetic diseases [RCV002374306] Chr19:13359629 [GRCh38]
Chr19:13470443 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5824G>A (p.Val1942Ile) single nucleotide variant Inborn genetic diseases [RCV002353183]|not provided [RCV003234185] Chr19:13214516 [GRCh38]
Chr19:13325330 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3979_3983delinsCCACTTCACTTA (p.Phe1327fs) indel Inborn genetic diseases [RCV002357743] Chr19:13275856..13275860 [GRCh38]
Chr19:13386670..13386674 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.631+2T>C single nucleotide variant Episodic ataxia type 2 [RCV002904136] Chr19:13371686 [GRCh38]
Chr19:13482500 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.4193T>C (p.Phe1398Ser) single nucleotide variant Episodic ataxia type 2 [RCV002881494] Chr19:13261507 [GRCh38]
Chr19:13372321 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4210C>T (p.His1404Tyr) single nucleotide variant Episodic ataxia type 2 [RCV003103144]|not provided [RCV002462707] Chr19:13261490 [GRCh38]
Chr19:13372304 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1888T>C (p.Leu630=) single nucleotide variant Episodic ataxia type 2 [RCV002730739] Chr19:13308145 [GRCh38]
Chr19:13418959 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5079T>C (p.Tyr1693=) single nucleotide variant Episodic ataxia type 2 [RCV002750707] Chr19:13235263 [GRCh38]
Chr19:13346077 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5840-19A>G single nucleotide variant Episodic ataxia type 2 [RCV002971206] Chr19:13214352 [GRCh38]
Chr19:13325166 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5528+1270C>A single nucleotide variant Episodic ataxia type 2 [RCV002750401] Chr19:13228812 [GRCh38]
Chr19:13339626 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2106C>T (p.Tyr702=) single nucleotide variant Episodic ataxia type 2 [RCV003033191] Chr19:13303612 [GRCh38]
Chr19:13414426 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2105-9C>T single nucleotide variant Episodic ataxia type 2 [RCV002837506] Chr19:13303622 [GRCh38]
Chr19:13414436 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6526+13G>A single nucleotide variant Episodic ataxia type 2 [RCV002903038] Chr19:13209299 [GRCh38]
Chr19:13320113 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1697T>G (p.Ile566Ser) single nucleotide variant Episodic ataxia type 2 [RCV003013427] Chr19:13308500 [GRCh38]
Chr19:13419314 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.736G>A (p.Glu246Lys) single nucleotide variant not provided [RCV002511925] Chr19:13365365 [GRCh38]
Chr19:13476179 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3510C>T (p.Ile1170=) single nucleotide variant Episodic ataxia type 2 [RCV002858320] Chr19:13286546 [GRCh38]
Chr19:13397360 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1556A>C (p.Tyr519Ser) single nucleotide variant not provided [RCV002475504] Chr19:13312781 [GRCh38]
Chr19:13423595 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.75G>T (p.Val25=) single nucleotide variant not provided [RCV002475514] Chr19:13506150 [GRCh38]
Chr19:13616964 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3598G>A (p.Glu1200Lys) single nucleotide variant Episodic ataxia type 2 [RCV002816144] Chr19:13285162 [GRCh38]
Chr19:13395976 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6773A>G (p.His2258Arg) single nucleotide variant Episodic ataxia type 2 [RCV002903193] Chr19:13208763 [GRCh38]
Chr19:13319577 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4847T>C (p.Val1616Ala) single nucleotide variant Episodic ataxia type 2 [RCV002904059] Chr19:13253010 [GRCh38]
Chr19:13363824 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3989+9C>T single nucleotide variant Episodic ataxia type 2 [RCV002613572] Chr19:13275841 [GRCh38]
Chr19:13386655 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6938A>T (p.Gln2313Leu) single nucleotide variant Inborn genetic diseases [RCV002902558] Chr19:13207896 [GRCh38]
Chr19:13318710 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4352C>G (p.Thr1451Ser) single nucleotide variant Episodic ataxia type 2 [RCV002862847] Chr19:13259600 [GRCh38]
Chr19:13370414 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3542C>T (p.Thr1181Ile) single nucleotide variant Episodic ataxia type 2 [RCV002690418] Chr19:13286514 [GRCh38]
Chr19:13397328 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.666G>A (p.Ala222=) single nucleotide variant Episodic ataxia type 2 [RCV002816358] Chr19:13365435 [GRCh38]
Chr19:13476249 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1602T>C (p.Phe534=) single nucleotide variant Episodic ataxia type 2 [RCV002819911] Chr19:13312735 [GRCh38]
Chr19:13423549 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1337C>T (p.Ala446Val) single nucleotide variant Episodic ataxia type 2 [RCV002819407] Chr19:13330252 [GRCh38]
Chr19:13441066 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6885A>C (p.Pro2295=) single nucleotide variant not provided [RCV002511921] Chr19:13207949 [GRCh38]
Chr19:13318763 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3990-18C>T single nucleotide variant Episodic ataxia type 2 [RCV002819124] Chr19:13262851 [GRCh38]
Chr19:13373665 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4089+1G>A single nucleotide variant Episodic ataxia type 2 [RCV002995481]|Migraine, familial hemiplegic, 1 [RCV004007746] Chr19:13262733 [GRCh38]
Chr19:13373547 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic
NM_001127222.2(CACNA1A):c.5879T>A (p.Met1960Lys) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV002510722] Chr19:13214294 [GRCh38]
Chr19:13325108 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1782-17C>T single nucleotide variant Episodic ataxia type 2 [RCV003034629] Chr19:13308268 [GRCh38]
Chr19:13419082 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5794A>G (p.Asn1932Asp) single nucleotide variant Episodic ataxia type 2 [RCV002615821] Chr19:13214546 [GRCh38]
Chr19:13325360 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2420A>C (p.Tyr807Ser) single nucleotide variant Episodic ataxia type 2 [RCV002881444] Chr19:13299213 [GRCh38]
Chr19:13410027 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.323T>C (p.Ile108Thr) single nucleotide variant Episodic ataxia type 2 [RCV003035069] Chr19:13455183 [GRCh38]
Chr19:13565997 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6557A>T (p.Gln2186Leu) single nucleotide variant Episodic ataxia type 2 [RCV002948211] Chr19:13208979 [GRCh38]
Chr19:13319793 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3213C>T (p.Asn1071=) single nucleotide variant Episodic ataxia type 2 [RCV002820074] Chr19:13286843 [GRCh38]
Chr19:13397657 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.785-6T>C single nucleotide variant Episodic ataxia type 2 [RCV002751046] Chr19:13359805 [GRCh38]
Chr19:13470619 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.772G>A (p.Glu258Lys) single nucleotide variant not provided [RCV002511266] Chr19:13365329 [GRCh38]
Chr19:13476143 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1083-20G>T single nucleotide variant Episodic ataxia type 2 [RCV002731635] Chr19:13334513 [GRCh38]
Chr19:13445327 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3844G>A (p.Val1282Ile) single nucleotide variant Episodic ataxia type 2 [RCV002618555] Chr19:13277107 [GRCh38]
Chr19:13387921 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3079C>T (p.Arg1027Trp) single nucleotide variant Episodic ataxia type 2 [RCV002571545]|not provided [RCV002475497] Chr19:13298554 [GRCh38]
Chr19:13409368 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3190G>A (p.Asp1064Asn) single nucleotide variant not provided [RCV002475509] Chr19:13286866 [GRCh38]
Chr19:13397680 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2256C>A (p.Ser752=) single nucleotide variant Episodic ataxia type 2 [RCV002734765] Chr19:13300573 [GRCh38]
Chr19:13411387 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6523A>C (p.Thr2175Pro) single nucleotide variant Episodic ataxia type 2 [RCV002819782] Chr19:13209315 [GRCh38]
Chr19:13320129 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5840-3C>A single nucleotide variant Episodic ataxia type 2 [RCV002991703] Chr19:13214336 [GRCh38]
Chr19:13325150 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5840-12G>T single nucleotide variant Episodic ataxia type 2 [RCV002842741] Chr19:13214345 [GRCh38]
Chr19:13325159 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2837_2844del (p.Ser946fs) deletion Episodic ataxia type 2 [RCV002858102] Chr19:13298789..13298796 [GRCh38]
Chr19:13409603..13409610 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.64G>A (p.Gly22Arg) single nucleotide variant Episodic ataxia type 2 [RCV003034315] Chr19:13506161 [GRCh38]
Chr19:13616975 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2616C>A (p.Ser872Arg) single nucleotide variant Episodic ataxia type 2 [RCV002838245] Chr19:13299017 [GRCh38]
Chr19:13409831 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.540-6_540-3del microsatellite Episodic ataxia type 2 [RCV002755120] Chr19:13371782..13371785 [GRCh38]
Chr19:13482596..13482599 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4150A>C (p.Met1384Leu) single nucleotide variant not provided [RCV002511368] Chr19:13261550 [GRCh38]
Chr19:13372364 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2667C>T (p.Ala889=) single nucleotide variant Episodic ataxia type 2 [RCV003075065] Chr19:13298966 [GRCh38]
Chr19:13409780 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5703C>T (p.Arg1901=) single nucleotide variant Episodic ataxia type 2 [RCV003032376] Chr19:13224695 [GRCh38]
Chr19:13335509 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5941-10C>A single nucleotide variant Episodic ataxia type 2 [RCV002995588] Chr19:13212750 [GRCh38]
Chr19:13323564 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2994G>A (p.Gly998=) single nucleotide variant Episodic ataxia type 2 [RCV002613906] Chr19:13298639 [GRCh38]
Chr19:13409453 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2904T>G (p.Gly968=) single nucleotide variant Episodic ataxia type 2 [RCV002685634] Chr19:13298729 [GRCh38]
Chr19:13409543 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6384G>A (p.Leu2128=) single nucleotide variant Episodic ataxia type 2 [RCV003013575] Chr19:13209454 [GRCh38]
Chr19:13320268 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2430C>A (p.His810Gln) single nucleotide variant Episodic ataxia type 2 [RCV002881262] Chr19:13299203 [GRCh38]
Chr19:13410017 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3411C>A (p.Pro1137=) single nucleotide variant Episodic ataxia type 2 [RCV002614667] Chr19:13286645 [GRCh38]
Chr19:13397459 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4634G>T (p.Arg1545Leu) single nucleotide variant Episodic ataxia type 2 [RCV002727070] Chr19:13255216 [GRCh38]
Chr19:13366030 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.788A>G (p.Asp263Gly) single nucleotide variant not provided [RCV002511924] Chr19:13359796 [GRCh38]
Chr19:13470610 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5953C>A (p.Leu1985Ile) single nucleotide variant Episodic ataxia type 2 [RCV002991637] Chr19:13212728 [GRCh38]
Chr19:13323542 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2613C>T (p.Pro871=) single nucleotide variant Episodic ataxia type 2 [RCV002776320] Chr19:13299020 [GRCh38]
Chr19:13409834 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2407T>C (p.Trp803Arg) single nucleotide variant Episodic ataxia type 2 [RCV002617529] Chr19:13299226 [GRCh38]
Chr19:13410040 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2915A>G (p.Lys972Arg) single nucleotide variant Inborn genetic diseases [RCV002773513] Chr19:13298718 [GRCh38]
Chr19:13409532 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7190T>C (p.Val2397Ala) single nucleotide variant not provided [RCV002511920] Chr19:13207644 [GRCh38]
Chr19:13318458 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2715C>T (p.Ala905=) single nucleotide variant not provided [RCV002511922] Chr19:13298918 [GRCh38]
Chr19:13409732 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.980G>C (p.Ser327Thr) single nucleotide variant not provided [RCV002511923] Chr19:13335908 [GRCh38]
Chr19:13446722 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5236A>G (p.Met1746Val) single nucleotide variant Episodic ataxia type 2 [RCV002750545]|not provided [RCV003443075] Chr19:13234934 [GRCh38]
Chr19:13345748 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4473C>T (p.Val1491=) single nucleotide variant Episodic ataxia type 2 [RCV002617588] Chr19:13257467 [GRCh38]
Chr19:13368281 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.384G>T (p.Pro128=) single nucleotide variant Episodic ataxia type 2 [RCV002838261] Chr19:13455122 [GRCh38]
Chr19:13565936 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3002G>A (p.Arg1001His) single nucleotide variant Inborn genetic diseases [RCV002906536] Chr19:13298631 [GRCh38]
Chr19:13409445 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2560G>C (p.Ala854Pro) single nucleotide variant Episodic ataxia type 2 [RCV002617897] Chr19:13299073 [GRCh38]
Chr19:13409887 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.154A>G (p.Met52Val) single nucleotide variant Episodic ataxia type 2 [RCV002681850] Chr19:13506071 [GRCh38]
Chr19:13616885 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.7263G>A (p.Pro2421=) single nucleotide variant CACNA1A-related disorder [RCV003985561]|not provided [RCV002511919] Chr19:13207571 [GRCh38]
Chr19:13318385 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4654C>G (p.Gln1552Glu) single nucleotide variant Episodic ataxia type 2 [RCV002755349] Chr19:13255196 [GRCh38]
Chr19:13366010 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5498G>A (p.Arg1833His) single nucleotide variant Episodic ataxia type 2 [RCV002908258] Chr19:13230112 [GRCh38]
Chr19:13340926 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.43G>A (p.Gly15Arg) single nucleotide variant not provided [RCV002461831] Chr19:13506182 [GRCh38]
Chr19:13616996 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.537G>A (p.Thr179=) single nucleotide variant Episodic ataxia type 2 [RCV002618443] Chr19:13452878 [GRCh38]
Chr19:13563692 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.581T>C (p.Leu194Pro) single nucleotide variant Episodic ataxia type 2 [RCV002842588] Chr19:13371738 [GRCh38]
Chr19:13482552 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3266G>T (p.Gly1089Val) single nucleotide variant Episodic ataxia type 2 [RCV002815269] Chr19:13286790 [GRCh38]
Chr19:13397604 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3093G>C (p.Glu1031Asp) single nucleotide variant Episodic ataxia type 2 [RCV002975069] Chr19:13286963 [GRCh38]
Chr19:13397777 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.540-13T>C single nucleotide variant Episodic ataxia type 2 [RCV002618349] Chr19:13371792 [GRCh38]
Chr19:13482606 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2516G>A (p.Arg839Gln) single nucleotide variant Inborn genetic diseases [RCV002883401]|not provided [RCV003143551] Chr19:13299117 [GRCh38]
Chr19:13409931 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.3955G>A (p.Val1319Met) single nucleotide variant not provided [RCV002461699] Chr19:13275884 [GRCh38]
Chr19:13386698 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4639A>T (p.Met1547Leu) single nucleotide variant Episodic ataxia type 2 [RCV002861596] Chr19:13255211 [GRCh38]
Chr19:13366025 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2418C>T (p.Ala806=) single nucleotide variant Episodic ataxia type 2 [RCV002614700] Chr19:13299215 [GRCh38]
Chr19:13410029 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6659ACC[6] (p.His2219_Pro2220insHisHisHisHisHisHis) microsatellite Episodic ataxia type 2 [RCV003015684] Chr19:13208877..13208878 [GRCh38]
Chr19:13319691..13319692 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3262G>T (p.Ala1088Ser) single nucleotide variant Episodic ataxia type 2 [RCV002750927] Chr19:13286794 [GRCh38]
Chr19:13397608 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1282A>T (p.Ser428Cys) single nucleotide variant Episodic ataxia type 2 [RCV002681795] Chr19:13330307 [GRCh38]
Chr19:13441121 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2485G>A (p.Glu829Lys) single nucleotide variant Episodic ataxia type 2 [RCV003045189]|Inborn genetic diseases [RCV003014990] Chr19:13299148 [GRCh38]
Chr19:13409962 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.6685G>T (p.Ala2229Ser) single nucleotide variant Inborn genetic diseases [RCV002707749] Chr19:13208851 [GRCh38]
Chr19:13319665 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4388+11C>T single nucleotide variant Episodic ataxia type 2 [RCV003081405] Chr19:13259553 [GRCh38]
Chr19:13370367 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6304-15A>T single nucleotide variant Episodic ataxia type 2 [RCV002847904] Chr19:13210667 [GRCh38]
Chr19:13321481 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.90G>A (p.Gly30=) single nucleotide variant Episodic ataxia type 2 [RCV003021345] Chr19:13506135 [GRCh38]
Chr19:13616949 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.979-8C>T single nucleotide variant Episodic ataxia type 2 [RCV002923060] Chr19:13335917 [GRCh38]
Chr19:13446731 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6304-13G>A single nucleotide variant Episodic ataxia type 2 [RCV002848465]|not provided [RCV003332388] Chr19:13210665 [GRCh38]
Chr19:13321479 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1199-17G>A single nucleotide variant Episodic ataxia type 2 [RCV002662791] Chr19:13332942 [GRCh38]
Chr19:13443756 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2892C>G (p.Pro964=) single nucleotide variant Episodic ataxia type 2 [RCV002640252] Chr19:13298741 [GRCh38]
Chr19:13409555 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.4591-5C>A single nucleotide variant Inborn genetic diseases [RCV002708067] Chr19:13255264 [GRCh38]
Chr19:13366078 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6424C>T (p.Arg2142Trp) single nucleotide variant Episodic ataxia type 2 [RCV002691080] Chr19:13209414 [GRCh38]
Chr19:13320228 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7394C>T (p.Pro2465Leu) single nucleotide variant Inborn genetic diseases [RCV002708085] Chr19:13207440 [GRCh38]
Chr19:13318254 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6579G>A (p.Lys2193=) single nucleotide variant Episodic ataxia type 2 [RCV003020964] Chr19:13208957 [GRCh38]
Chr19:13319771 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4591-14C>G single nucleotide variant Episodic ataxia type 2 [RCV002825528] Chr19:13255273 [GRCh38]
Chr19:13366087 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6462_6494del (p.Arg2155_Arg2165del) deletion Episodic ataxia type 2 [RCV002889736] Chr19:13209344..13209376 [GRCh38]
Chr19:13320158..13320190 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6340-17C>T single nucleotide variant Episodic ataxia type 2 [RCV002953738] Chr19:13209515 [GRCh38]
Chr19:13320329 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1818C>G (p.Leu606=) single nucleotide variant Episodic ataxia type 2 [RCV002658493] Chr19:13308215 [GRCh38]
Chr19:13419029 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4028C>T (p.Ser1343Phe) single nucleotide variant Episodic ataxia type 2 [RCV002912874]|not provided [RCV003482424] Chr19:13262795 [GRCh38]
Chr19:13373609 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7349G>A (p.Arg2450His) single nucleotide variant Inborn genetic diseases [RCV002708093] Chr19:13207485 [GRCh38]
Chr19:13318299 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2894G>A (p.Gly965Glu) single nucleotide variant Inborn genetic diseases [RCV002849620] Chr19:13298739 [GRCh38]
Chr19:13409553 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4797G>A (p.Val1599=) single nucleotide variant Episodic ataxia type 2 [RCV002975726] Chr19:13253060 [GRCh38]
Chr19:13363874 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2173-11G>T single nucleotide variant Episodic ataxia type 2 [RCV002622950] Chr19:13300667 [GRCh38]
Chr19:13411481 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6151_6152insT (p.Pro2051fs) insertion not provided [RCV002510110] Chr19:13212421..13212422 [GRCh38]
Chr19:13323235..13323236 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6435dup (p.Glu2146fs) duplication Episodic ataxia type 2 [RCV002847257] Chr19:13209402..13209403 [GRCh38]
Chr19:13320216..13320217 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.91C>A (p.Arg31=) single nucleotide variant Episodic ataxia type 2 [RCV003019619] Chr19:13506134 [GRCh38]
Chr19:13616948 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2350C>T (p.Gln784Ter) single nucleotide variant Episodic ataxia type 2 [RCV002760506] Chr19:13299283 [GRCh38]
Chr19:13410097 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.101G>A (p.Gly34Glu) single nucleotide variant Episodic ataxia type 2 [RCV002886176] Chr19:13506124 [GRCh38]
Chr19:13616938 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4014C>T (p.Ile1338=) single nucleotide variant Episodic ataxia type 2 [RCV002884939] Chr19:13262809 [GRCh38]
Chr19:13373623 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2548G>A (p.Gly850Ser) single nucleotide variant Episodic ataxia type 2 [RCV003775560]|not specified [RCV002510298] Chr19:13299085 [GRCh38]
Chr19:13409899 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4866+19C>G single nucleotide variant Episodic ataxia type 2 [RCV002912464] Chr19:13252972 [GRCh38]
Chr19:13363786 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.31C>T (p.Arg11Cys) single nucleotide variant Episodic ataxia type 2 [RCV003018036] Chr19:13506194 [GRCh38]
Chr19:13617008 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5698A>G (p.Ile1900Val) single nucleotide variant Episodic ataxia type 2 [RCV002909781] Chr19:13224700 [GRCh38]
Chr19:13335514 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2865T>G (p.His955Gln) single nucleotide variant Episodic ataxia type 2 [RCV002912967] Chr19:13298768 [GRCh38]
Chr19:13409582 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4251-17C>T single nucleotide variant Episodic ataxia type 2 [RCV002866850] Chr19:13259718 [GRCh38]
Chr19:13370532 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5741A>G (p.Asp1914Gly) single nucleotide variant Episodic ataxia type 2 [RCV003036311]|not provided [RCV003235757] Chr19:13214599 [GRCh38]
Chr19:13325413 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.1216G>A (p.Glu406Lys) single nucleotide variant Episodic ataxia type 2 [RCV002948683] Chr19:13332908 [GRCh38]
Chr19:13443722 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6469G>C (p.Asp2157His) single nucleotide variant not provided [RCV002509919] Chr19:13209369 [GRCh38]
Chr19:13320183 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6529T>C (p.Leu2177=) single nucleotide variant Episodic ataxia type 2 [RCV002885961] Chr19:13209007 [GRCh38]
Chr19:13319821 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1991T>C (p.Leu664Pro) single nucleotide variant Episodic ataxia type 2 [RCV002843928]|not provided [RCV003319532] Chr19:13303880 [GRCh38]
Chr19:13414694 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5861A>G (p.Lys1954Arg) single nucleotide variant Episodic ataxia type 2 [RCV003036866] Chr19:13214312 [GRCh38]
Chr19:13325126 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3990-9C>T single nucleotide variant Episodic ataxia type 2 [RCV002912530] Chr19:13262842 [GRCh38]
Chr19:13373656 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.5976C>G (p.Pro1992=) single nucleotide variant Episodic ataxia type 2 [RCV002975830] Chr19:13212705 [GRCh38]
Chr19:13323519 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1781+3A>C single nucleotide variant Episodic ataxia type 2 [RCV002846294] Chr19:13308413 [GRCh38]
Chr19:13419227 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3856G>A (p.Val1286Ile) single nucleotide variant not provided [RCV002510184] Chr19:13277095 [GRCh38]
Chr19:13387909 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3315C>T (p.Pro1105=) single nucleotide variant Episodic ataxia type 2 [RCV002820276] Chr19:13286741 [GRCh38]
Chr19:13397555 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2644C>T (p.Pro882Ser) single nucleotide variant Episodic ataxia type 2 [RCV003777930]|Inborn genetic diseases [RCV002889081] Chr19:13298989 [GRCh38]
Chr19:13409803 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2045dup (p.Val683fs) duplication Episodic ataxia type 2 [RCV002866279] Chr19:13303825..13303826 [GRCh38]
Chr19:13414639..13414640 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4203del (p.Lys1401fs) deletion Episodic ataxia type 2 [RCV002867812] Chr19:13261497 [GRCh38]
Chr19:13372311 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2846C>G (p.Thr949Arg) single nucleotide variant Inborn genetic diseases [RCV002949798] Chr19:13298787 [GRCh38]
Chr19:13409601 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1346-8C>T single nucleotide variant Episodic ataxia type 2 [RCV002592217] Chr19:13317329 [GRCh38]
Chr19:13428143 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2987C>T (p.Pro996Leu) single nucleotide variant Episodic ataxia type 2 [RCV002927364] Chr19:13298646 [GRCh38]
Chr19:13409460 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.784+4G>A single nucleotide variant Episodic ataxia type 2 [RCV003037926] Chr19:13365313 [GRCh38]
Chr19:13476127 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1668+13G>C single nucleotide variant Episodic ataxia type 2 [RCV003078129] Chr19:13312656 [GRCh38]
Chr19:13423470 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5700C>G (p.Ile1900Met) single nucleotide variant Episodic ataxia type 2 [RCV003079230] Chr19:13224698 [GRCh38]
Chr19:13335512 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6424C>A (p.Arg2142=) single nucleotide variant Episodic ataxia type 2 [RCV003080770] Chr19:13209414 [GRCh38]
Chr19:13320228 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.632-7C>T single nucleotide variant Episodic ataxia type 2 [RCV002885129] Chr19:13365476 [GRCh38]
Chr19:13476290 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4461C>G (p.Ser1487=) single nucleotide variant Episodic ataxia type 2 [RCV002889184] Chr19:13257479 [GRCh38]
Chr19:13368293 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6723G>C (p.Arg2241=) single nucleotide variant Episodic ataxia type 2 [RCV002848075] Chr19:13208813 [GRCh38]
Chr19:13319627 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4950+16G>T single nucleotide variant Episodic ataxia type 2 [RCV003002798] Chr19:13245166 [GRCh38]
Chr19:13355980 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4089+3G>T single nucleotide variant Episodic ataxia type 2 [RCV003054562] Chr19:13262731 [GRCh38]
Chr19:13373545 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4089+6A>T single nucleotide variant Episodic ataxia type 2 [RCV002886331] Chr19:13262728 [GRCh38]
Chr19:13373542 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3990-20A>G single nucleotide variant Episodic ataxia type 2 [RCV003077130] Chr19:13262853 [GRCh38]
Chr19:13373667 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5127G>A (p.Gly1709=) single nucleotide variant Episodic ataxia type 2 [RCV002975728] Chr19:13235215 [GRCh38]
Chr19:13346029 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6679C>A (p.Arg2227Ser) single nucleotide variant Episodic ataxia type 2 [RCV003018166] Chr19:13208857 [GRCh38]
Chr19:13319671 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5732-11C>T single nucleotide variant Episodic ataxia type 2 [RCV002695532] Chr19:13214619 [GRCh38]
Chr19:13325433 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.784G>C (p.Asp262His) single nucleotide variant Episodic ataxia type 2 [RCV002866211] Chr19:13365317 [GRCh38]
Chr19:13476131 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5058G>C (p.Gln1686His) single nucleotide variant Episodic ataxia type 2 [RCV003054772] Chr19:13235623 [GRCh38]
Chr19:13346437 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3591A>G (p.Lys1197=) single nucleotide variant Episodic ataxia type 2 [RCV002781556] Chr19:13285169 [GRCh38]
Chr19:13395983 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.979-9A>C single nucleotide variant Episodic ataxia type 2 [RCV002823786] Chr19:13335918 [GRCh38]
Chr19:13446732 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3473A>C (p.Lys1158Thr) single nucleotide variant Episodic ataxia type 2 [RCV002571107] Chr19:13286583 [GRCh38]
Chr19:13397397 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4050A>T (p.Leu1350=) single nucleotide variant Episodic ataxia type 2 [RCV003078026] Chr19:13262773 [GRCh38]
Chr19:13373587 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1556-12_1556-10del deletion Episodic ataxia type 2 [RCV002796495] Chr19:13312791..13312793 [GRCh38]
Chr19:13423605..13423607 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3442A>T (p.Asn1148Tyr) single nucleotide variant Inborn genetic diseases [RCV002692426] Chr19:13286614 [GRCh38]
Chr19:13397428 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5865C>A (p.Ile1955=) single nucleotide variant Episodic ataxia type 2 [RCV002823875] Chr19:13214308 [GRCh38]
Chr19:13325122 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1397C>T (p.Thr466Ile) single nucleotide variant Episodic ataxia type 2 [RCV002847885] Chr19:13317270 [GRCh38]
Chr19:13428084 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3693-19G>A single nucleotide variant Episodic ataxia type 2 [RCV002998736] Chr19:13283415 [GRCh38]
Chr19:13394229 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2563G>A (p.Glu855Lys) single nucleotide variant Episodic ataxia type 2 [RCV003002593] Chr19:13299070 [GRCh38]
Chr19:13409884 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3822+6T>C single nucleotide variant Episodic ataxia type 2 [RCV003018334] Chr19:13283261 [GRCh38]
Chr19:13394075 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5159T>A (p.Val1720Glu) single nucleotide variant Episodic ataxia type 2 [RCV003037739] Chr19:13235011 [GRCh38]
Chr19:13345825 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5249+14C>T single nucleotide variant Episodic ataxia type 2 [RCV002705855] Chr19:13234907 [GRCh38]
Chr19:13345721 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3003C>T (p.Arg1001=) single nucleotide variant Episodic ataxia type 2 [RCV003038241] Chr19:13298630 [GRCh38]
Chr19:13409444 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6527-11A>G single nucleotide variant Episodic ataxia type 2 [RCV003078424] Chr19:13209020 [GRCh38]
Chr19:13319834 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4950+12T>C single nucleotide variant Episodic ataxia type 2 [RCV003038008] Chr19:13245170 [GRCh38]
Chr19:13355984 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3513C>T (p.Pro1171=) single nucleotide variant Episodic ataxia type 2 [RCV003077805] Chr19:13286543 [GRCh38]
Chr19:13397357 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4590+19T>C single nucleotide variant Episodic ataxia type 2 [RCV003080259] Chr19:13257331 [GRCh38]
Chr19:13368145 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6503G>C (p.Gly2168Ala) single nucleotide variant Episodic ataxia type 2 [RCV002622080] Chr19:13209335 [GRCh38]
Chr19:13320149 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1668+3A>G single nucleotide variant Episodic ataxia type 2 [RCV002866893]|not provided [RCV003146647] Chr19:13312666 [GRCh38]
Chr19:13423480 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4902T>C (p.Phe1634=) single nucleotide variant Episodic ataxia type 2 [RCV002736200] Chr19:13245230 [GRCh38]
Chr19:13356044 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003322636]|Episodic ataxia type 2 [RCV002735741] Chr19:13371771 [GRCh38]
Chr19:13482585 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.5953C>G (p.Leu1985Val) single nucleotide variant Episodic ataxia type 2 [RCV003777975]|Inborn genetic diseases [RCV002925672] Chr19:13212728 [GRCh38]
Chr19:13323542 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3122del (p.Gly1041fs) deletion Episodic ataxia type 2 [RCV003005665] Chr19:13286934 [GRCh38]
Chr19:13397748 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2393A>G (p.Asp798Gly) single nucleotide variant Episodic ataxia type 2 [RCV002740748] Chr19:13299240 [GRCh38]
Chr19:13410054 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2859G>A (p.Gly953=) single nucleotide variant Episodic ataxia type 2 [RCV002626636] Chr19:13298774 [GRCh38]
Chr19:13409588 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4938G>T (p.Val1646=) single nucleotide variant Episodic ataxia type 2 [RCV003008252] Chr19:13245194 [GRCh38]
Chr19:13356008 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3686C>A (p.Thr1229Asn) single nucleotide variant Episodic ataxia type 2 [RCV002918930] Chr19:13285074 [GRCh38]
Chr19:13395888 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3775G>A (p.Ala1259Thr) single nucleotide variant not provided [RCV003059936] Chr19:13283314 [GRCh38]
Chr19:13394128 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3569A>G (p.Asn1190Ser) single nucleotide variant not provided [RCV002508644] Chr19:13285191 [GRCh38]
Chr19:13396005 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1346-7C>G single nucleotide variant Episodic ataxia type 2 [RCV002627352] Chr19:13317328 [GRCh38]
Chr19:13428142 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3990-9C>A single nucleotide variant Episodic ataxia type 2 [RCV002830210] Chr19:13262842 [GRCh38]
Chr19:13373656 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4250+16C>G single nucleotide variant Episodic ataxia type 2 [RCV002642791] Chr19:13261434 [GRCh38]
Chr19:13372248 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3692C>T (p.Pro1231Leu) single nucleotide variant Episodic ataxia type 2 [RCV002958928]|not provided [RCV003314747] Chr19:13285068 [GRCh38]
Chr19:13395882 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2327A>G (p.Gln776Arg) single nucleotide variant Episodic ataxia type 2 [RCV003085641] Chr19:13299306 [GRCh38]
Chr19:13410120 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5964G>C (p.Gln1988His) single nucleotide variant Episodic ataxia type 2 [RCV002576078] Chr19:13212717 [GRCh38]
Chr19:13323531 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5152A>T (p.Ile1718Phe) single nucleotide variant Episodic ataxia type 2 [RCV003008016] Chr19:13235018 [GRCh38]
Chr19:13345832 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1231C>G single nucleotide variant Episodic ataxia type 2 [RCV002958891] Chr19:13228758 [GRCh38]
Chr19:13339572 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5348A>G (p.Asn1783Ser) single nucleotide variant Episodic ataxia type 2 [RCV002700670] Chr19:13231762 [GRCh38]
Chr19:13342576 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6199A>G (p.Met2067Val) single nucleotide variant Episodic ataxia type 2 [RCV002917785] Chr19:13212207 [GRCh38]
Chr19:13323021 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.632-20CT[3] microsatellite Episodic ataxia type 2 [RCV002872230] Chr19:13365482..13365483 [GRCh38]
Chr19:13476296..13476297 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5731+11G>A single nucleotide variant Episodic ataxia type 2 [RCV002710960] Chr19:13224656 [GRCh38]
Chr19:13335470 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2020T>C (p.Tyr674His) single nucleotide variant Inborn genetic diseases [RCV002826694] Chr19:13303851 [GRCh38]
Chr19:13414665 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6766A>G (p.Met2256Val) single nucleotide variant Episodic ataxia type 2 [RCV003040040] Chr19:13208770 [GRCh38]
Chr19:13319584 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4521C>T (p.Ala1507=) single nucleotide variant Episodic ataxia type 2 [RCV002711001] Chr19:13257419 [GRCh38]
Chr19:13368233 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4970G>T (p.Ser1657Ile) single nucleotide variant Episodic ataxia type 2 [RCV002851309] Chr19:13235711 [GRCh38]
Chr19:13346525 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1277T>C single nucleotide variant Episodic ataxia type 2 [RCV002890135] Chr19:13228804 [GRCh38]
Chr19:13339618 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1139G>A (p.Arg380Lys) single nucleotide variant Episodic ataxia type 2 [RCV003056284] Chr19:13334437 [GRCh38]
Chr19:13445251 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3883-16C>T single nucleotide variant Episodic ataxia type 2 [RCV003040825] Chr19:13275972 [GRCh38]
Chr19:13386786 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2443A>G (p.Met815Val) single nucleotide variant Episodic ataxia type 2 [RCV002928911] Chr19:13299190 [GRCh38]
Chr19:13410004 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2580A>G (p.Lys860=) single nucleotide variant Episodic ataxia type 2 [RCV002594725]|not provided [RCV003409885] Chr19:13299053 [GRCh38]
Chr19:13409867 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5940+8G>C single nucleotide variant Episodic ataxia type 2 [RCV002595159] Chr19:13214225 [GRCh38]
Chr19:13325039 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6721C>G (p.Arg2241Gly) single nucleotide variant Episodic ataxia type 2 [RCV002800825] Chr19:13208815 [GRCh38]
Chr19:13319629 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6784_6788del (p.Ser2262fs) deletion Episodic ataxia type 2 [RCV002801574] Chr19:13208046..13208050 [GRCh38]
Chr19:13318860..13318864 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2602G>T (p.Ala868Ser) single nucleotide variant Episodic ataxia type 2 [RCV003005361] Chr19:13299031 [GRCh38]
Chr19:13409845 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4389-19C>A single nucleotide variant Episodic ataxia type 2 [RCV002851512] Chr19:13257570 [GRCh38]
Chr19:13368384 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1956T>A (p.Thr652=) single nucleotide variant Episodic ataxia type 2 [RCV002957505] Chr19:13307812 [GRCh38]
Chr19:13418626 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6697_6700dup (p.Asp2234fs) duplication Episodic ataxia type 2 [RCV002889983] Chr19:13208835..13208836 [GRCh38]
Chr19:13319649..13319650 [GRCh37]
Chr19:19p13.13		 pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.2898G>A (p.Glu966=) single nucleotide variant Episodic ataxia type 2 [RCV002825753] Chr19:13298735 [GRCh38]
Chr19:13409549 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5732-19G>A single nucleotide variant Episodic ataxia type 2 [RCV002626985] Chr19:13214627 [GRCh38]
Chr19:13325441 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6722G>C (p.Arg2241Pro) single nucleotide variant Episodic ataxia type 2 [RCV002700011] Chr19:13208814 [GRCh38]
Chr19:13319628 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1805T>G (p.Leu602Arg) single nucleotide variant Spinocerebellar ataxia type 6 [RCV002508177] Chr19:13308228 [GRCh38]
Chr19:13419042 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.618G>A (p.Val206=) single nucleotide variant Episodic ataxia type 2 [RCV003082477] Chr19:13371701 [GRCh38]
Chr19:13482515 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6652_6653insCCCACC (p.His2217_His2218insProHis) insertion Episodic ataxia type 2 [RCV003057026] Chr19:13208883..13208884 [GRCh38]
Chr19:13319697..13319698 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2995G>A (p.Gly999Ser) single nucleotide variant Episodic ataxia type 2 [RCV002914694] Chr19:13298638 [GRCh38]
Chr19:13409452 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4089+12A>C single nucleotide variant Episodic ataxia type 2 [RCV002574809] Chr19:13262722 [GRCh38]
Chr19:13373536 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2759C>T (p.Ala920Val) single nucleotide variant Episodic ataxia type 2 [RCV003059605] Chr19:13298874 [GRCh38]
Chr19:13409688 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2630T>A (p.Leu877Gln) single nucleotide variant Episodic ataxia type 2 [RCV002957443] Chr19:13299003 [GRCh38]
Chr19:13409817 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2188G>C (p.Glu730Gln) single nucleotide variant Episodic ataxia type 2 [RCV002872091] Chr19:13300641 [GRCh38]
Chr19:13411455 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6587_6598dup (p.Arg2199_Gly2200insAspGlnGluArg) duplication Developmental and epileptic encephalopathy, 42 [RCV003140143]|Episodic ataxia type 2 [RCV002664186]|Inborn genetic diseases [RCV002648208] Chr19:13208937..13208938 [GRCh38]
Chr19:13319751..13319752 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6642C>T (p.His2214=) single nucleotide variant Episodic ataxia type 2 [RCV002766072] Chr19:13208894 [GRCh38]
Chr19:13319708 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6172A>G (p.Ser2058Gly) single nucleotide variant Episodic ataxia type 2 [RCV003025913] Chr19:13212401 [GRCh38]
Chr19:13323215 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2821G>C (p.Glu941Gln) single nucleotide variant Episodic ataxia type 2 [RCV002889941] Chr19:13298812 [GRCh38]
Chr19:13409626 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4061A>C (p.Lys1354Thr) single nucleotide variant Episodic ataxia type 2 [RCV003007907] Chr19:13262762 [GRCh38]
Chr19:13373576 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.631+15G>C single nucleotide variant Episodic ataxia type 2 [RCV003082096] Chr19:13371673 [GRCh38]
Chr19:13482487 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3089+10G>A single nucleotide variant Episodic ataxia type 2 [RCV003041624] Chr19:13298534 [GRCh38]
Chr19:13409348 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.512T>A (p.Val171Asp) single nucleotide variant Episodic ataxia type 2 [RCV003024106] Chr19:13452903 [GRCh38]
Chr19:13563717 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1471A>C (p.Thr491Pro) single nucleotide variant Episodic ataxia type 2 [RCV002893874] Chr19:13317196 [GRCh38]
Chr19:13428010 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1014G>A (p.Leu338=) single nucleotide variant Episodic ataxia type 2 [RCV002982490] Chr19:13335874 [GRCh38]
Chr19:13446688 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4687G>T (p.Val1563Leu) single nucleotide variant Episodic ataxia type 2 [RCV002918246] Chr19:13255163 [GRCh38]
Chr19:13365977 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1669G>C (p.Val557Leu) single nucleotide variant Episodic ataxia type 2 [RCV003025560] Chr19:13308528 [GRCh38]
Chr19:13419342 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3046del (p.Asp1016fs) deletion Episodic ataxia type 2 [RCV003024917] Chr19:13298587 [GRCh38]
Chr19:13409401 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.752A>G (p.Lys251Arg) single nucleotide variant Inborn genetic diseases [RCV002712169] Chr19:13365349 [GRCh38]
Chr19:13476163 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5961C>T (p.Phe1987=) single nucleotide variant Episodic ataxia type 2 [RCV002825742] Chr19:13212720 [GRCh38]
Chr19:13323534 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3530C>A (p.Pro1177His) single nucleotide variant Episodic ataxia type 2 [RCV003056423] Chr19:13286526 [GRCh38]
Chr19:13397340 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6303+18T>C single nucleotide variant Episodic ataxia type 2 [RCV003024270] Chr19:13212085 [GRCh38]
Chr19:13322899 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.184T>A (p.Tyr62Asn) single nucleotide variant Episodic ataxia type 2 [RCV002853067] Chr19:13506041 [GRCh38]
Chr19:13616855 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.4591-12TC[2] microsatellite Episodic ataxia type 2 [RCV003081955] Chr19:13255266..13255267 [GRCh38]
Chr19:13366080..13366081 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6436GAG[1] (p.Glu2147del) microsatellite Episodic ataxia type 2 [RCV002829131] Chr19:13209397..13209399 [GRCh38]
Chr19:13320211..13320213 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6340A>G (p.Thr2114Ala) single nucleotide variant Episodic ataxia type 2 [RCV002828296] Chr19:13209498 [GRCh38]
Chr19:13320312 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3414G>C (p.Lys1138Asn) single nucleotide variant Inborn genetic diseases [RCV002712518] Chr19:13286642 [GRCh38]
Chr19:13397456 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6487T>G (p.Ser2163Ala) single nucleotide variant not provided [RCV002508479] Chr19:13209351 [GRCh38]
Chr19:13320165 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4434C>T (p.Pro1478=) single nucleotide variant Episodic ataxia type 2 [RCV002894239] Chr19:13257506 [GRCh38]
Chr19:13368320 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1913+15G>A single nucleotide variant Episodic ataxia type 2 [RCV002932004] Chr19:13308105 [GRCh38]
Chr19:13418919 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6189+17A>G single nucleotide variant Episodic ataxia type 2 [RCV002663488] Chr19:13212367 [GRCh38]
Chr19:13323181 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3090-10C>T single nucleotide variant Episodic ataxia type 2 [RCV002875970] Chr19:13286976 [GRCh38]
Chr19:13397790 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2728C>G (p.Leu910Val) single nucleotide variant Episodic ataxia type 2 [RCV002871936] Chr19:13298905 [GRCh38]
Chr19:13409719 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2702C>G (p.Ser901Trp) single nucleotide variant Episodic ataxia type 2 [RCV002871972] Chr19:13298931 [GRCh38]
Chr19:13409745 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2603C>T (p.Ala868Val) single nucleotide variant Episodic ataxia type 2 [RCV002700944]|not provided [RCV003312061] Chr19:13299030 [GRCh38]
Chr19:13409844 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6232A>G (p.Ser2078Gly) single nucleotide variant Episodic ataxia type 2 [RCV002932593] Chr19:13212174 [GRCh38]
Chr19:13322988 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.184T>C (p.Tyr62His) single nucleotide variant Episodic ataxia type 2 [RCV002801531] Chr19:13506041 [GRCh38]
Chr19:13616855 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.25C>T (p.Pro9Ser) single nucleotide variant Episodic ataxia type 2 [RCV002710629] Chr19:13506200 [GRCh38]
Chr19:13617014 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6303+17C>G single nucleotide variant Episodic ataxia type 2 [RCV002765908] Chr19:13212086 [GRCh38]
Chr19:13322900 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5032C>A (p.Arg1678Ser) single nucleotide variant Episodic ataxia type 2 [RCV002894624] Chr19:13235649 [GRCh38]
Chr19:13346463 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1173G>T (p.Gly391=) single nucleotide variant Episodic ataxia type 2 [RCV002650691] Chr19:13334403 [GRCh38]
Chr19:13445217 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1159C>T (p.Arg387Cys) single nucleotide variant Episodic ataxia type 2 [RCV002632935] Chr19:13334417 [GRCh38]
Chr19:13445231 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1191C>T single nucleotide variant Episodic ataxia type 2 [RCV002720558] Chr19:13228718 [GRCh38]
Chr19:13339532 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4738A>G (p.Ile1580Val) single nucleotide variant Episodic ataxia type 2 [RCV003061248]|not provided [RCV003332404] Chr19:13255112 [GRCh38]
Chr19:13365926 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1088T>C (p.Phe363Ser) single nucleotide variant Episodic ataxia type 2 [RCV003064563]|Inborn genetic diseases [RCV004070157] Chr19:13334488 [GRCh38]
Chr19:13445302 [GRCh37]
Chr19:19p13.13		 pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.56C>A (p.Ala19Glu) single nucleotide variant Episodic ataxia type 2 [RCV002942047] Chr19:13506169 [GRCh38]
Chr19:13616983 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6478C>T (p.His2160Tyr) single nucleotide variant Episodic ataxia type 2 [RCV002810910] Chr19:13209360 [GRCh38]
Chr19:13320174 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4950+20C>T single nucleotide variant Episodic ataxia type 2 [RCV002856112] Chr19:13245162 [GRCh38]
Chr19:13355976 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.76G>T (p.Gly26Cys) single nucleotide variant Episodic ataxia type 2 [RCV002746222] Chr19:13506149 [GRCh38]
Chr19:13616963 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1322_1324del (p.Gln441del) deletion Episodic ataxia type 2 [RCV003031683] Chr19:13330265..13330267 [GRCh38]
Chr19:13441079..13441081 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1913+16G>T single nucleotide variant Episodic ataxia type 2 [RCV003049171] Chr19:13308104 [GRCh38]
Chr19:13418918 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.337A>T (p.Ile113Phe) single nucleotide variant Episodic ataxia type 2 [RCV002581906] Chr19:13455169 [GRCh38]
Chr19:13565983 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.938A>G (p.Gln313Arg) single nucleotide variant Episodic ataxia type 2 [RCV003049250] Chr19:13359646 [GRCh38]
Chr19:13470460 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3650T>C (p.Met1217Thr) single nucleotide variant Episodic ataxia type 2 [RCV002671422] Chr19:13285110 [GRCh38]
Chr19:13395924 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2668G>A (p.Glu890Lys) single nucleotide variant Episodic ataxia type 2 [RCV002675569] Chr19:13298965 [GRCh38]
Chr19:13409779 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5134-2del deletion Episodic ataxia type 2 [RCV003031100] Chr19:13235038 [GRCh38]
Chr19:13345852 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1218G>A (p.Glu406=) single nucleotide variant Episodic ataxia type 2 [RCV002647285] Chr19:13332906 [GRCh38]
Chr19:13443720 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2456T>C (p.Leu819Ser) single nucleotide variant Episodic ataxia type 2 [RCV003048630] Chr19:13299177 [GRCh38]
Chr19:13409991 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1346-11T>C single nucleotide variant Episodic ataxia type 2 [RCV002791630] Chr19:13317332 [GRCh38]
Chr19:13428146 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-1217C>T single nucleotide variant Episodic ataxia type 2 [RCV002671552] Chr19:13228744 [GRCh38]
Chr19:13339558 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5401-18T>C single nucleotide variant Episodic ataxia type 2 [RCV002628387] Chr19:13230227 [GRCh38]
Chr19:13341041 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5732-12C>A single nucleotide variant Episodic ataxia type 2 [RCV002581280] Chr19:13214620 [GRCh38]
Chr19:13325434 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5732-9C>T single nucleotide variant Episodic ataxia type 2 [RCV003048618] Chr19:13214617 [GRCh38]
Chr19:13325431 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2991C>T (p.Asp997=) single nucleotide variant Episodic ataxia type 2 [RCV002898826] Chr19:13298642 [GRCh38]
Chr19:13409456 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.395G>A (p.Arg132Gln) single nucleotide variant Episodic ataxia type 2 [RCV002791719] Chr19:13455111 [GRCh38]
Chr19:13565925 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3553+16C>T single nucleotide variant Episodic ataxia type 2 [RCV002715256] Chr19:13286487 [GRCh38]
Chr19:13397301 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1345+4A>G single nucleotide variant Episodic ataxia type 2 [RCV002833329] Chr19:13330240 [GRCh38]
Chr19:13441054 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1452A>G (p.Lys484=) single nucleotide variant Episodic ataxia type 2 [RCV002807191] Chr19:13317215 [GRCh38]
Chr19:13428029 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3823-1G>C single nucleotide variant Episodic ataxia type 2 [RCV002832888] Chr19:13277129 [GRCh38]
Chr19:13387943 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.5216G>A (p.Arg1739Gln) single nucleotide variant Episodic ataxia type 2 [RCV002715019]|not provided [RCV003111591] Chr19:13234954 [GRCh38]
Chr19:13345768 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1977G>T (p.Thr659=) single nucleotide variant Episodic ataxia type 2 [RCV002856706] Chr19:13307791 [GRCh38]
Chr19:13418605 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3652_3653del (p.Pro1218fs) deletion Episodic ataxia type 2 [RCV003046859] Chr19:13285107..13285108 [GRCh38]
Chr19:13395921..13395922 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5140G>C (p.Gly1714Arg) single nucleotide variant Episodic ataxia type 2 [RCV002877160] Chr19:13235030 [GRCh38]
Chr19:13345844 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5839+9T>G single nucleotide variant Episodic ataxia type 2 [RCV002746080] Chr19:13214492 [GRCh38]
Chr19:13325306 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4609G>T (p.Ala1537Ser) single nucleotide variant Episodic ataxia type 2 [RCV002933875] Chr19:13255241 [GRCh38]
Chr19:13366055 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6603G>A (p.Arg2201=) single nucleotide variant Episodic ataxia type 2 [RCV002629461] Chr19:13208933 [GRCh38]
Chr19:13319747 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5498G>C (p.Arg1833Pro) single nucleotide variant Episodic ataxia type 2 [RCV003009705] Chr19:13230112 [GRCh38]
Chr19:13340926 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.682C>T (p.Gln228Ter) single nucleotide variant Episodic ataxia type 2 [RCV002856756] Chr19:13365419 [GRCh38]
Chr19:13476233 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1669-7G>A single nucleotide variant Episodic ataxia type 2 [RCV002647238] Chr19:13308535 [GRCh38]
Chr19:13419349 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1092C>T (p.Ala364=) single nucleotide variant Episodic ataxia type 2 [RCV002806195] Chr19:13334484 [GRCh38]
Chr19:13445298 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3369G>A (p.Arg1123=) single nucleotide variant Episodic ataxia type 2 [RCV003028165] Chr19:13286687 [GRCh38]
Chr19:13397501 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4089+18T>C single nucleotide variant Episodic ataxia type 2 [RCV002806510] Chr19:13262716 [GRCh38]
Chr19:13373530 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3444C>T (p.Asn1148=) single nucleotide variant Episodic ataxia type 2 [RCV002806837] Chr19:13286612 [GRCh38]
Chr19:13397426 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6670G>A (p.Asp2224Asn) single nucleotide variant Episodic ataxia type 2 [RCV002579068] Chr19:13208866 [GRCh38]
Chr19:13319680 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2996del (p.Gly999fs) deletion Episodic ataxia type 2 [RCV002959232] Chr19:13298637 [GRCh38]
Chr19:13409451 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3413A>T (p.Lys1138Met) single nucleotide variant Episodic ataxia type 2 [RCV002647410] Chr19:13286643 [GRCh38]
Chr19:13397457 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4083G>A (p.Lys1361=) single nucleotide variant Episodic ataxia type 2 [RCV002876977] Chr19:13262740 [GRCh38]
Chr19:13373554 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2040G>C (p.Gln680His) single nucleotide variant Episodic ataxia type 2 [RCV002716571] Chr19:13303831 [GRCh38]
Chr19:13414645 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2830A>T (p.Ser944Cys) single nucleotide variant Episodic ataxia type 2 [RCV002577792] Chr19:13298803 [GRCh38]
Chr19:13409617 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3825G>A (p.Val1275=) single nucleotide variant Episodic ataxia type 2 [RCV002650411] Chr19:13277126 [GRCh38]
Chr19:13387940 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3330T>G (p.Pro1110=) single nucleotide variant Episodic ataxia type 2 [RCV003047331] Chr19:13286726 [GRCh38]
Chr19:13397540 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5033dup (p.Ile1679fs) duplication Developmental and epileptic encephalopathy, 42 [RCV002810048] Chr19:13235647..13235648 [GRCh38]
Chr19:13346461..13346462 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.159G>A (p.Ala53=) single nucleotide variant Episodic ataxia type 2 [RCV002962039]|not provided [RCV003443098] Chr19:13506066 [GRCh38]
Chr19:13616880 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.2751G>A (p.Glu917=) single nucleotide variant Episodic ataxia type 2 [RCV003047920]|not provided [RCV003410045] Chr19:13298882 [GRCh38]
Chr19:13409696 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.4639A>G (p.Met1547Val) single nucleotide variant Episodic ataxia type 2 [RCV002578204] Chr19:13255211 [GRCh38]
Chr19:13366025 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.631+18C>T single nucleotide variant Episodic ataxia type 2 [RCV002810574] Chr19:13371670 [GRCh38]
Chr19:13482484 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1987-12C>A single nucleotide variant Episodic ataxia type 2 [RCV002628665] Chr19:13303896 [GRCh38]
Chr19:13414710 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.284C>G (p.Thr95Ser) single nucleotide variant Episodic ataxia type 2 [RCV002834473] Chr19:13505941 [GRCh38]
Chr19:13616755 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3175C>A (p.Pro1059Thr) single nucleotide variant Episodic ataxia type 2 [RCV002922021] Chr19:13286881 [GRCh38]
Chr19:13397695 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6780+19G>A single nucleotide variant Episodic ataxia type 2 [RCV003027560] Chr19:13208737 [GRCh38]
Chr19:13319551 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5733A>T (p.Gly1911=) single nucleotide variant Episodic ataxia type 2 [RCV003091316] Chr19:13214607 [GRCh38]
Chr19:13325421 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5929C>T (p.Arg1977Cys) single nucleotide variant Episodic ataxia type 2 [RCV002720026] Chr19:13214244 [GRCh38]
Chr19:13325058 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3334A>G (p.Met1112Val) single nucleotide variant Episodic ataxia type 2 [RCV002675524] Chr19:13286722 [GRCh38]
Chr19:13397536 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5731+18G>A single nucleotide variant Episodic ataxia type 2 [RCV003009274] Chr19:13224649 [GRCh38]
Chr19:13335463 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6712_6735dup (p.Trp2245_Ser2246insAlaArgAlaArgAspGlnArgTrp) duplication Episodic ataxia type 2 [RCV003087736] Chr19:13208800..13208801 [GRCh38]
Chr19:13319614..13319615 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5307G>A (p.Pro1769=) single nucleotide variant Episodic ataxia type 2 [RCV003063496] Chr19:13231803 [GRCh38]
Chr19:13342617 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4091C>A (p.Ala1364Asp) single nucleotide variant Episodic ataxia type 2 [RCV002877182] Chr19:13261609 [GRCh38]
Chr19:13372423 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6339+13C>T single nucleotide variant Episodic ataxia type 2 [RCV003061814] Chr19:13210604 [GRCh38]
Chr19:13321418 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2956G>T (p.Ala986Ser) single nucleotide variant Episodic ataxia type 2 [RCV002922433] Chr19:13298677 [GRCh38]
Chr19:13409491 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5626C>T (p.Arg1876Trp) single nucleotide variant Inborn genetic diseases [RCV002717656] Chr19:13224772 [GRCh38]
Chr19:13335586 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4035_4043del (p.1346VLR[1]) deletion Episodic ataxia type 2 [RCV002811312]|not provided [RCV003229097] Chr19:13262780..13262788 [GRCh38]
Chr19:13373594..13373602 [GRCh37]
Chr19:19p13.13		 pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.5077T>C (p.Tyr1693His) single nucleotide variant Episodic ataxia type 2 [RCV002857813] Chr19:13235265 [GRCh38]
Chr19:13346079 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4591-18C>G single nucleotide variant Episodic ataxia type 2 [RCV002807342] Chr19:13255277 [GRCh38]
Chr19:13366091 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4388+13A>G single nucleotide variant Episodic ataxia type 2 [RCV002650488] Chr19:13259551 [GRCh38]
Chr19:13370365 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3023G>A (p.Gly1008Asp) single nucleotide variant Episodic ataxia type 2 [RCV002856762] Chr19:13298610 [GRCh38]
Chr19:13409424 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.967C>G (p.Leu323Val) single nucleotide variant Episodic ataxia type 2 [RCV003047563] Chr19:13359617 [GRCh38]
Chr19:13470431 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.658A>G (p.Met220Val) single nucleotide variant Episodic ataxia type 2 [RCV003048518] Chr19:13365443 [GRCh38]
Chr19:13476257 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3970C>T (p.Leu1324=) single nucleotide variant Episodic ataxia type 2 [RCV002900378] Chr19:13275869 [GRCh38]
Chr19:13386683 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5248C>A (p.Arg1750=) single nucleotide variant Episodic ataxia type 2 [RCV003010101] Chr19:13234922 [GRCh38]
Chr19:13345736 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2371G>A (p.Glu791Lys) single nucleotide variant Episodic ataxia type 2 [RCV002834951] Chr19:13299262 [GRCh38]
Chr19:13410076 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5408A>C (p.Asn1803Thr) single nucleotide variant Episodic ataxia type 2 [RCV003030221]|not provided [RCV003232769] Chr19:13230202 [GRCh38]
Chr19:13341016 [GRCh37]
Chr19:19p13.13		 pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.3756C>T (p.Val1252=) single nucleotide variant Episodic ataxia type 2 [RCV003061299] Chr19:13283333 [GRCh38]
Chr19:13394147 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.400-13C>G single nucleotide variant Episodic ataxia type 2 [RCV002582597] Chr19:13453028 [GRCh38]
Chr19:13563842 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.59C>T (p.Ala20Val) single nucleotide variant Episodic ataxia type 2 [RCV003052244] Chr19:13506166 [GRCh38]
Chr19:13616980 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1555+17C>T single nucleotide variant Episodic ataxia type 2 [RCV002653555] Chr19:13317095 [GRCh38]
Chr19:13427909 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.492C>T (p.Tyr164=) single nucleotide variant Episodic ataxia type 2 [RCV002726094] Chr19:13452923 [GRCh38]
Chr19:13563737 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.157G>A (p.Ala53Thr) single nucleotide variant Episodic ataxia type 2 [RCV003051835] Chr19:13506068 [GRCh38]
Chr19:13616882 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3853G>A (p.Gly1285Ser) single nucleotide variant Episodic ataxia type 2 [RCV003051134] Chr19:13277098 [GRCh38]
Chr19:13387912 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3554-17G>T single nucleotide variant Episodic ataxia type 2 [RCV003050522] Chr19:13285223 [GRCh38]
Chr19:13396037 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4756-15G>A single nucleotide variant Episodic ataxia type 2 [RCV003051202] Chr19:13253116 [GRCh38]
Chr19:13363930 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2683G>A (p.Gly895Arg) single nucleotide variant Inborn genetic diseases [RCV002722677]|not provided [RCV003222465] Chr19:13298950 [GRCh38]
Chr19:13409764 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5249+13C>A single nucleotide variant Episodic ataxia type 2 [RCV002653253] Chr19:13234908 [GRCh38]
Chr19:13345722 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1555+15G>A single nucleotide variant Episodic ataxia type 2 [RCV002634422] Chr19:13317097 [GRCh38]
Chr19:13427911 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.110G>A (p.Arg37Gln) single nucleotide variant Episodic ataxia type 2 [RCV003068457] Chr19:13506115 [GRCh38]
Chr19:13616929 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4289C>T (p.Ala1430Val) single nucleotide variant Episodic ataxia type 2 [RCV002942793] Chr19:13259663 [GRCh38]
Chr19:13370477 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1199-12C>T single nucleotide variant Episodic ataxia type 2 [RCV002583406] Chr19:13332937 [GRCh38]
Chr19:13443751 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3637G>T (p.Gly1213Cys) single nucleotide variant Episodic ataxia type 2 [RCV002725909]|not provided [RCV003312063] Chr19:13285123 [GRCh38]
Chr19:13395937 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1913+1G>A single nucleotide variant Episodic ataxia type 2 [RCV003066191] Chr19:13308119 [GRCh38]
Chr19:13418933 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1256-10A>G single nucleotide variant Episodic ataxia type 2 [RCV002605513] Chr19:13330343 [GRCh38]
Chr19:13441157 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2820G>A (p.Arg940=) single nucleotide variant Episodic ataxia type 2 [RCV003052263] Chr19:13298813 [GRCh38]
Chr19:13409627 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3049G>A (p.Ala1017Thr) single nucleotide variant Episodic ataxia type 2 [RCV002585739] Chr19:13298584 [GRCh38]
Chr19:13409398 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6461G>A (p.Arg2154Gln) single nucleotide variant Episodic ataxia type 2 [RCV003072524] Chr19:13209377 [GRCh38]
Chr19:13320191 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4756-7C>T single nucleotide variant Episodic ataxia type 2 [RCV003066317] Chr19:13253108 [GRCh38]
Chr19:13363922 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4927G>T (p.Asp1643Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003130898] Chr19:13245205 [GRCh38]
Chr19:13356019 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.5306C>T (p.Pro1769Leu) single nucleotide variant Episodic ataxia type 2 [RCV003069167] Chr19:13231804 [GRCh38]
Chr19:13342618 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4250+11A>G single nucleotide variant Episodic ataxia type 2 [RCV003052390] Chr19:13261439 [GRCh38]
Chr19:13372253 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6137G>T (p.Ser2046Ile) single nucleotide variant Episodic ataxia type 2 [RCV002585931] Chr19:13212436 [GRCh38]
Chr19:13323250 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3883-12T>C single nucleotide variant Episodic ataxia type 2 [RCV002943642] Chr19:13275968 [GRCh38]
Chr19:13386782 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2843G>T (p.Arg948Leu) single nucleotide variant Episodic ataxia type 2 [RCV003051940] Chr19:13298790 [GRCh38]
Chr19:13409604 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.400-15T>G single nucleotide variant Episodic ataxia type 2 [RCV003052646] Chr19:13453030 [GRCh38]
Chr19:13563844 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2805G>A (p.Arg935=) single nucleotide variant Episodic ataxia type 2 [RCV003070906] Chr19:13298828 [GRCh38]
Chr19:13409642 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6000A>G (p.Gly2000=) single nucleotide variant Episodic ataxia type 2 [RCV002606936] Chr19:13212681 [GRCh38]
Chr19:13323495 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.631+9G>A single nucleotide variant Episodic ataxia type 2 [RCV002585355] Chr19:13371679 [GRCh38]
Chr19:13482493 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4250+15T>G single nucleotide variant Episodic ataxia type 2 [RCV002606084] Chr19:13261435 [GRCh38]
Chr19:13372249 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1797C>T (p.Leu599=) single nucleotide variant Episodic ataxia type 2 [RCV003072315] Chr19:13308236 [GRCh38]
Chr19:13419050 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3731A>G (p.Tyr1244Cys) single nucleotide variant Episodic ataxia type 2 [RCV003148215]|not provided [RCV003159248] Chr19:13283358 [GRCh38]
Chr19:13394172 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
NM_001127222.2(CACNA1A):c.1914-15G>C single nucleotide variant Episodic ataxia type 2 [RCV002676985] Chr19:13307869 [GRCh38]
Chr19:13418683 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5649C>T (p.Pro1883=) single nucleotide variant Episodic ataxia type 2 [RCV003066713]|not provided [RCV003883865] Chr19:13224749 [GRCh38]
Chr19:13335563 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.522T>C (p.Phe174=) single nucleotide variant Episodic ataxia type 2 [RCV002604748] Chr19:13452893 [GRCh38]
Chr19:13563707 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6303+12C>T single nucleotide variant Episodic ataxia type 2 [RCV003069805] Chr19:13212091 [GRCh38]
Chr19:13322905 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3990-4A>T single nucleotide variant Episodic ataxia type 2 [RCV002611744] Chr19:13262837 [GRCh38]
Chr19:13373651 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1373A>T (p.Lys458Ile) single nucleotide variant Episodic ataxia type 2 [RCV003070070] Chr19:13317294 [GRCh38]
Chr19:13428108 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4471GTC[1] (p.Val1492del) microsatellite Episodic ataxia type 2 [RCV002815112] Chr19:13257464..13257466 [GRCh38]
Chr19:13368278..13368280 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1781+17C>T single nucleotide variant Episodic ataxia type 2 [RCV003070297] Chr19:13308399 [GRCh38]
Chr19:13419213 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3108G>T (p.Gly1036=) single nucleotide variant Episodic ataxia type 2 [RCV003093300] Chr19:13286948 [GRCh38]
Chr19:13397762 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2383A>T (p.Asn795Tyr) single nucleotide variant Episodic ataxia type 2 [RCV002725969] Chr19:13299250 [GRCh38]
Chr19:13410064 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.762C>T (p.Thr254=) single nucleotide variant not provided [RCV003154557] Chr19:13365339 [GRCh38]
Chr19:13476153 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1234G>C (p.Glu412Gln) single nucleotide variant not provided [RCV003327878] Chr19:13332890 [GRCh38]
Chr19:13443704 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7126C>T (p.Arg2376Trp) single nucleotide variant CACNA1A-related disorder [RCV003985616] Chr19:13207708 [GRCh38]
Chr19:13318522 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4950+6T>C single nucleotide variant not provided [RCV003227240] Chr19:13245176 [GRCh38]
Chr19:13355990 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5410C>T (p.Leu1804Phe) single nucleotide variant Episodic ataxia type 2 [RCV003228698] Chr19:13230200 [GRCh38]
Chr19:13341014 [GRCh37]
Chr19:19p13.13		 not provided
NM_001127222.2(CACNA1A):c.4694C>T (p.Pro1565Leu) single nucleotide variant not provided [RCV003229329] Chr19:13255156 [GRCh38]
Chr19:13365970 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2806C>A (p.Gln936Lys) single nucleotide variant Inborn genetic diseases [RCV003220367] Chr19:13298827 [GRCh38]
Chr19:13409641 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4534A>G (p.Thr1512Ala) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV003224932] Chr19:13257406 [GRCh38]
Chr19:13368220 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.865C>T (p.Pro289Ser) single nucleotide variant not provided [RCV003219051] Chr19:13359719 [GRCh38]
Chr19:13470533 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3026C>T (p.Ala1009Val) single nucleotide variant Inborn genetic diseases [RCV003211416] Chr19:13298607 [GRCh38]
Chr19:13409421 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4878C>T (p.Arg1626=) single nucleotide variant Episodic ataxia type 2 [RCV003779785]|not provided [RCV003222969] Chr19:13245254 [GRCh38]
Chr19:13356068 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.7254C>T (p.Ala2418=) single nucleotide variant not provided [RCV003222967] Chr19:13207580 [GRCh38]
Chr19:13318394 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6327G>A (p.Gly2109=) single nucleotide variant not provided [RCV003222968] Chr19:13210629 [GRCh38]
Chr19:13321443 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2575A>G (p.Arg859Gly) single nucleotide variant not provided [RCV003222970] Chr19:13299058 [GRCh38]
Chr19:13409872 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.880C>T (p.Pro294Ser) single nucleotide variant CACNA1A-related disorder [RCV003985577]|not provided [RCV003229485] Chr19:13359704 [GRCh38]
Chr19:13470518 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1724C>T (p.Ser575Phe) single nucleotide variant not provided [RCV003214144] Chr19:13308473 [GRCh38]
Chr19:13419287 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2491C>G (p.Arg831Gly) single nucleotide variant Inborn genetic diseases [RCV003195037] Chr19:13299142 [GRCh38]
Chr19:13409956 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6752A>G (p.Glu2251Gly) single nucleotide variant Episodic ataxia type 2 [RCV003779796]|not provided [RCV003221657] Chr19:13208784 [GRCh38]
Chr19:13319598 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5258C>G (p.Thr1753Ser) single nucleotide variant not provided [RCV003159483] Chr19:13231852 [GRCh38]
Chr19:13342666 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7458C>A (p.Arg2486=) single nucleotide variant not provided [RCV003222966] Chr19:13207376 [GRCh38]
Chr19:13318190 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3085A>G (p.Arg1029Gly) single nucleotide variant Episodic ataxia type 2 [RCV003224763]|Episodic ataxia type 2 [RCV003779802]|not provided [RCV003319552] Chr19:13298548 [GRCh38]
Chr19:13409362 [GRCh37]
Chr19:19p13.13		 likely pathogenic|uncertain significance
GRCh37/hg19 19p13.2(chr19:13363805-13363915)x1 copy number loss not provided [RCV003223008] Chr19:13363805..13363915 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001127222.2(CACNA1A):c.6217G>C (p.Asp2073His) single nucleotide variant not provided [RCV003143875] Chr19:13212189 [GRCh38]
Chr19:13323003 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.176T>C (p.Met59Thr) single nucleotide variant not provided [RCV003143876] Chr19:13506049 [GRCh38]
Chr19:13616863 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3399T>G (p.Asn1133Lys) single nucleotide variant not provided [RCV003214162] Chr19:13286657 [GRCh38]
Chr19:13397471 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2935C>T (p.His979Tyr) single nucleotide variant not provided [RCV003143877] Chr19:13298698 [GRCh38]
Chr19:13409512 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1168A>G (p.Asn390Asp) single nucleotide variant not provided [RCV003143878] Chr19:13334408 [GRCh38]
Chr19:13445222 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3613G>A (p.Glu1205Lys) single nucleotide variant not provided [RCV003143880] Chr19:13285147 [GRCh38]
Chr19:13395961 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1354T>G (p.Phe452Val) single nucleotide variant not provided [RCV003143882] Chr19:13317313 [GRCh38]
Chr19:13428127 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2870G>A (p.Arg957His) single nucleotide variant not provided [RCV003143883] Chr19:13298763 [GRCh38]
Chr19:13409577 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2428C>T (p.His810Tyr) single nucleotide variant not provided [RCV003143885] Chr19:13299205 [GRCh38]
Chr19:13410019 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6341C>T (p.Thr2114Ile) single nucleotide variant not provided [RCV003143886] Chr19:13209497 [GRCh38]
Chr19:13320311 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2330G>A (p.Arg777Gln) single nucleotide variant not provided [RCV003228258] Chr19:13299303 [GRCh38]
Chr19:13410117 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5534G>A (p.Arg1845His) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003142503] Chr19:13227522 [GRCh38]
Chr19:13338336 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4152G>C (p.Met1384Ile) single nucleotide variant not provided [RCV003152253] Chr19:13261548 [GRCh38]
Chr19:13372362 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.455T>A (p.Ile152Asn) single nucleotide variant not provided [RCV003228410] Chr19:13452960 [GRCh38]
Chr19:13563774 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter) single nucleotide variant Episodic ataxia type 2 [RCV003228702]|Episodic ataxia type 2 [RCV003779827] Chr19:13332887 [GRCh38]
Chr19:13443701 [GRCh37]
Chr19:19p13.13		 pathogenic|not provided
NM_001127222.2(CACNA1A):c.4131C>T (p.Phe1377=) single nucleotide variant not provided [RCV003143884] Chr19:13261569 [GRCh38]
Chr19:13372383 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5494G>A (p.Val1832Met) single nucleotide variant not provided [RCV003221735] Chr19:13230116 [GRCh38]
Chr19:13340930 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1037_1082+113del deletion Episodic ataxia type 2 [RCV003224954] Chr19:13335693..13335851 [GRCh38]
Chr19:13446507..13446665 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6271G>A (p.Ala2091Thr) single nucleotide variant Episodic ataxia type 2 [RCV003224762] Chr19:13212135 [GRCh38]
Chr19:13322949 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5021G>T (p.Gly1674Val) single nucleotide variant not provided [RCV003159386] Chr19:13235660 [GRCh38]
Chr19:13346474 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2627G>C (p.Gly876Ala) single nucleotide variant not provided [RCV003225496] Chr19:13299006 [GRCh38]
Chr19:13409820 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2343dup (p.Arg782fs) duplication Developmental and epileptic encephalopathy, 42 [RCV003226703] Chr19:13299289..13299290 [GRCh38]
Chr19:13410103..13410104 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6529T>G (p.Leu2177Val) single nucleotide variant not provided [RCV003318949] Chr19:13209007 [GRCh38]
Chr19:13319821 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1382A>C (p.Lys461Thr) single nucleotide variant not provided [RCV003323059] Chr19:13317285 [GRCh38]
Chr19:13428099 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3914G>T (p.Gly1305Val) single nucleotide variant not provided [RCV003323161] Chr19:13275925 [GRCh38]
Chr19:13386739 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2515C>T (p.Arg839Trp) single nucleotide variant not provided [RCV003323186] Chr19:13299118 [GRCh38]
Chr19:13409932 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6322C>T (p.Arg2108Cys) single nucleotide variant Episodic ataxia type 2 [RCV003777355]|Inborn genetic diseases [RCV004334079]|not specified [RCV003324418] Chr19:13210634 [GRCh38]
Chr19:13321448 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1343T>C (p.Val448Ala) single nucleotide variant not provided [RCV003319753] Chr19:13330246 [GRCh38]
Chr19:13441060 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4478A>G (p.Tyr1493Cys) single nucleotide variant not provided [RCV003319807] Chr19:13257462 [GRCh38]
Chr19:13368276 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.784G>A (p.Asp262Asn) single nucleotide variant not provided [RCV003322010] Chr19:13365317 [GRCh38]
Chr19:13476131 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6622C>G (p.Arg2208Gly) single nucleotide variant Episodic ataxia type 2 [RCV003777325]|not provided [RCV003322054] Chr19:13208914 [GRCh38]
Chr19:13319728 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4760A>G (p.Tyr1587Cys) single nucleotide variant not provided [RCV003318948] Chr19:13253097 [GRCh38]
Chr19:13363911 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3034_3048del (p.Thr1012_Asp1016del) deletion not provided [RCV003322972] Chr19:13298585..13298599 [GRCh38]
Chr19:13409399..13409413 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2957C>A (p.Ala986Asp) single nucleotide variant not provided [RCV003319903] Chr19:13298676 [GRCh38]
Chr19:13409490 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.106A>G (p.Ser36Gly) single nucleotide variant not provided [RCV003329581] Chr19:13506119 [GRCh38]
Chr19:13616933 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4747A>C (p.Met1583Leu) single nucleotide variant not provided [RCV003329990] Chr19:13255103 [GRCh38]
Chr19:13365917 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4197G>C (p.Lys1399Asn) single nucleotide variant not provided [RCV003328802] Chr19:13261503 [GRCh38]
Chr19:13372317 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6937CAG[10] (p.Gln2323_Gln2325del) microsatellite CACNA1A-related disorder [RCV003985579]|not provided [RCV003326994] Chr19:13207859..13207867 [GRCh38]
Chr19:13318673..13318681 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001127222.2(CACNA1A):c.6894C>T (p.Ser2298=) single nucleotide variant not provided [RCV003326995] Chr19:13207940 [GRCh38]
Chr19:13318754 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1619T>G (p.Leu540Arg) single nucleotide variant not provided [RCV003329980] Chr19:13312718 [GRCh38]
Chr19:13423532 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7151G>A (p.Arg2384Gln) single nucleotide variant not provided [RCV003423363] Chr19:13207683 [GRCh38]
Chr19:13318497 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3990-9_3991dup duplication Episodic ataxia type 2 [RCV003330231] Chr19:13262831..13262832 [GRCh38]
Chr19:13373645..13373646 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1923C>T (p.Phe641=) single nucleotide variant Episodic ataxia type 2 [RCV003778400]|not provided [RCV003423367] Chr19:13307845 [GRCh38]
Chr19:13418659 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2840C>T (p.Pro947Leu) single nucleotide variant Episodic ataxia type 2 [RCV003778399]|not provided [RCV003423366]|not specified [RCV003994552] Chr19:13298793 [GRCh38]
Chr19:13409607 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001127222.2(CACNA1A):c.4471G>A (p.Val1491Ile) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003333262] Chr19:13257469 [GRCh38]
Chr19:13368283 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6960G>A (p.Gln2320=) single nucleotide variant not provided [RCV003421853] Chr19:13207874 [GRCh38]
Chr19:13318688 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.849T>C (p.Asn283=) single nucleotide variant not provided [RCV003421861] Chr19:13359735 [GRCh38]
Chr19:13470549 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.7485C>G (p.His2495Gln) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003338205] Chr19:13207349 [GRCh38]
Chr19:13318163 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6113T>C (p.Met2038Thr) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003337903]|Episodic ataxia type 2 [RCV003777439] Chr19:13212460 [GRCh38]
Chr19:13323274 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu) single nucleotide variant Episodic ataxia type 2 [RCV003336040] Chr19:13298616 [GRCh38]
Chr19:13409430 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4188G>C (p.Gln1396His) single nucleotide variant not provided [RCV003334210] Chr19:13261512 [GRCh38]
Chr19:13372326 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.5216G>C (p.Arg1739Pro) single nucleotide variant Episodic ataxia type 2 [RCV003336686] Chr19:13234954 [GRCh38]
Chr19:13345768 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.91C>T (p.Arg31Ter) single nucleotide variant Episodic ataxia type 2 [RCV003336697] Chr19:13506134 [GRCh38]
Chr19:13616948 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1486G>A (p.Val496Ile) single nucleotide variant Episodic ataxia type 2 [RCV003335812] Chr19:13317181 [GRCh38]
Chr19:13427995 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2536G>A (p.Asp846Asn) single nucleotide variant not specified [RCV003331870] Chr19:13299097 [GRCh38]
Chr19:13409911 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2893G>C (p.Gly965Arg) single nucleotide variant not provided [RCV003332524] Chr19:13298740 [GRCh38]
Chr19:13409554 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3407C>T (p.Pro1136Leu) single nucleotide variant Episodic ataxia type 2 [RCV003333606] Chr19:13286649 [GRCh38]
Chr19:13397463 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2921A>G (p.Glu974Gly) single nucleotide variant Inborn genetic diseases [RCV003369405] Chr19:13298712 [GRCh38]
Chr19:13409526 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.371A>G (p.Asp124Gly) single nucleotide variant Inborn genetic diseases [RCV003374692] Chr19:13455135 [GRCh38]
Chr19:13565949 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6831C>G (p.Ser2277Arg) single nucleotide variant CACNA1A-related disorder [RCV003985611] Chr19:13208003 [GRCh38]
Chr19:13318817 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4250+4G>A single nucleotide variant Inborn genetic diseases [RCV003366632] Chr19:13261446 [GRCh38]
Chr19:13372260 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2695C>T (p.Arg899Cys) single nucleotide variant CACNA1A-related disorder [RCV003985621] Chr19:13298938 [GRCh38]
Chr19:13409752 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.203G>T (p.Arg68Leu) single nucleotide variant Episodic ataxia type 2 [RCV003333361] Chr19:13506022 [GRCh38]
Chr19:13616836 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1255+5C>T single nucleotide variant not provided [RCV003457016] Chr19:13332864 [GRCh38]
Chr19:13443678 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1628_1643dup (p.Ser549fs) duplication not provided [RCV003457015] Chr19:13312693..13312694 [GRCh38]
Chr19:13423507..13423508 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1120C>T (p.Arg374Trp) single nucleotide variant Episodic ataxia type 2 [RCV003333680]|Episodic ataxia type 2 [RCV003777413] Chr19:13334456 [GRCh38]
Chr19:13445270 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.182T>C (p.Leu61Pro) single nucleotide variant Episodic ataxia type 2 [RCV003333573] Chr19:13506043 [GRCh38]
Chr19:13616857 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.10:g.13599806G>A single nucleotide variant not provided [RCV001531296] Chr19:13599806 [GRCh38]
Chr19:13710620 [GRCh37]
Chr19:19p13.13		 likely benign
NC_000019.10:g.13599842C>A single nucleotide variant not provided [RCV003421863] Chr19:13599842 [GRCh38]
Chr19:13710656 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3307C>T (p.Pro1103Ser) single nucleotide variant Episodic ataxia type 2 [RCV003782221] Chr19:13286749 [GRCh38]
Chr19:13397563 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2180A>G (p.Gln727Arg) single nucleotide variant Episodic ataxia type 2 [RCV003455841] Chr19:13300649 [GRCh38]
Chr19:13411463 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5141G>A (p.Gly1714Asp) single nucleotide variant not provided [RCV003482614] Chr19:13235029 [GRCh38]
Chr19:13345843 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3469G>C (p.Ala1157Pro) single nucleotide variant not provided [RCV003482611] Chr19:13286587 [GRCh38]
Chr19:13397401 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5653G>A (p.Ala1885Thr) single nucleotide variant Episodic ataxia type 2 [RCV003779237]|not provided [RCV003490527] Chr19:13224745 [GRCh38]
Chr19:13335559 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2047G>A (p.Val683Met) single nucleotide variant Episodic ataxia type 2 [RCV003790823] Chr19:13303824 [GRCh38]
Chr19:13414638 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1220A>C (p.Asp407Ala) single nucleotide variant Episodic ataxia type 2 [RCV003791961] Chr19:13332904 [GRCh38]
Chr19:13443718 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6526+11C>A single nucleotide variant Episodic ataxia type 2 [RCV003791975] Chr19:13209301 [GRCh38]
Chr19:13320115 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2723_2738delinsTG (p.Gly908fs) indel not provided [RCV003482609] Chr19:13298895..13298910 [GRCh38]
Chr19:13409709..13409724 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_000068.4(CACNA1A):c.4970_4987del deletion not provided [RCV003482613] Chr19:13235712..13235729 [GRCh38]
Chr19:13346526..13346543 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7433C>T (p.Pro2478Leu) single nucleotide variant not provided [RCV003482615] Chr19:13207401 [GRCh38]
Chr19:13318215 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.978+1G>A single nucleotide variant CACNA1A-related disorder [RCV003985608] Chr19:13359605 [GRCh38]
Chr19:13470419 [GRCh37]
Chr19:19p13.13		 likely pathogenic
GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3 copy number gain not provided [RCV003485193] Chr19:12281048..13573342 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NC_000019.10:g.13198071A>T single nucleotide variant not provided [RCV003423360] Chr19:13198071 [GRCh38]
Chr19:13308885 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3051G>C (p.Ala1017=) single nucleotide variant not provided [RCV003421858] Chr19:13298582 [GRCh38]
Chr19:13409396 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1144C>T (p.Gln382Ter) single nucleotide variant not provided [RCV003421859] Chr19:13334432 [GRCh38]
Chr19:13445246 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1625C>T (p.Thr542Met) single nucleotide variant Episodic ataxia type 2 [RCV003778401]|not provided [RCV003423368] Chr19:13312712 [GRCh38]
Chr19:13423526 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.10:g.13599907C>T single nucleotide variant not provided [RCV003457017] Chr19:13599907 [GRCh38]
Chr19:13710721 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.-5_10del (p.Met1_Phe4del) deletion Auditory neuropathy [RCV003484472] Chr19:13506215..13506229 [GRCh38]
Chr19:13617029..13617043 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3781G>A (p.Ala1261Thr) single nucleotide variant Episodic ataxia type 2 [RCV003484518] Chr19:13283308 [GRCh38]
Chr19:13394122 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7206G>A (p.Pro2402=) single nucleotide variant not specified [RCV003479619] Chr19:13207628 [GRCh38]
Chr19:13318442 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6643C>T (p.His2215Tyr) single nucleotide variant CACNA1A-related disorder [RCV003985605] Chr19:13208893 [GRCh38]
Chr19:13319707 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2602del (p.Ala868fs) deletion Developmental and epileptic encephalopathy, 42 [RCV003484521] Chr19:13299031 [GRCh38]
Chr19:13409845 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.5295C>T (p.Leu1765=) single nucleotide variant not provided [RCV003423365] Chr19:13231815 [GRCh38]
Chr19:13342629 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.984C>G (p.Asn328Lys) single nucleotide variant not provided [RCV003441651] Chr19:13335904 [GRCh38]
Chr19:13446718 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1072G>C (p.Val358Leu) single nucleotide variant not specified [RCV003404727] Chr19:13335816 [GRCh38]
Chr19:13446630 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3148A>G (p.Ile1050Val) single nucleotide variant CACNA1A-related disorder [RCV003985595] Chr19:13286908 [GRCh38]
Chr19:13397722 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.18C>T (p.Asp6=) single nucleotide variant not provided [RCV003482606] Chr19:13506207 [GRCh38]
Chr19:13617021 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1931G>A (p.Gly644Glu) single nucleotide variant not provided [RCV003482607] Chr19:13307837 [GRCh38]
Chr19:13418651 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2931G>C (p.Ala977=) single nucleotide variant not provided [RCV003482610] Chr19:13298702 [GRCh38]
Chr19:13409516 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4250+4G>C single nucleotide variant not provided [RCV003482612] Chr19:13261446 [GRCh38]
Chr19:13372260 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.60C>T (p.Ala20=) single nucleotide variant not provided [RCV003421862] Chr19:13506165 [GRCh38]
Chr19:13616979 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4340G>C (p.Trp1447Ser) single nucleotide variant CACNA1A-related disorder [RCV003985586] Chr19:13259612 [GRCh38]
Chr19:13370426 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7242C>T (p.Asp2414=) single nucleotide variant not provided [RCV003423362] Chr19:13207592 [GRCh38]
Chr19:13318406 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6183C>T (p.Asn2061=) single nucleotide variant Episodic ataxia type 2 [RCV003791133] Chr19:13212390 [GRCh38]
Chr19:13323204 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6981G>A (p.Val2327=) single nucleotide variant not provided [RCV003421852] Chr19:13207853 [GRCh38]
Chr19:13318667 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6604C>T (p.Pro2202Ser) single nucleotide variant not provided [RCV003421854] Chr19:13208932 [GRCh38]
Chr19:13319746 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6031C>T (p.Leu2011=) single nucleotide variant not provided [RCV003406867] Chr19:13212650 [GRCh38]
Chr19:13323464 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3084G>A (p.Arg1028=) single nucleotide variant not provided [RCV003421857] Chr19:13298549 [GRCh38]
Chr19:13409363 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1083-2A>G single nucleotide variant not provided [RCV003421860] Chr19:13334495 [GRCh38]
Chr19:13445309 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1923C>A (p.Phe641Leu) single nucleotide variant not provided [RCV003441177] Chr19:13307845 [GRCh38]
Chr19:13418659 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7275C>T (p.Gly2425=) single nucleotide variant not provided [RCV003423361] Chr19:13207559 [GRCh38]
Chr19:13318373 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6923G>A (p.Gly2308Asp) single nucleotide variant not provided [RCV003423364] Chr19:13207911 [GRCh38]
Chr19:13318725 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6697C>T (p.Pro2233Ser) single nucleotide variant CACNA1A-related disorder [RCV003985620]|Episodic ataxia type 2 [RCV003778328] Chr19:13208839 [GRCh38]
Chr19:13319653 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.362dup (p.Pro122fs) duplication CACNA1A-related disorder [RCV003985602] Chr19:13455143..13455144 [GRCh38]
Chr19:13565957..13565958 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NC_000019.10:g.13599844G>A single nucleotide variant not provided [RCV003423370] Chr19:13599844 [GRCh38]
Chr19:13710658 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5749C>A (p.Gln1917Lys) single nucleotide variant CACNA1A-related disorder [RCV003985600] Chr19:13214591 [GRCh38]
Chr19:13325405 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6958C>T (p.Gln2320Ter) single nucleotide variant CACNA1A-related disorder [RCV003985603] Chr19:13207876 [GRCh38]
Chr19:13318690 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6592G>C (p.Glu2198Gln) single nucleotide variant CACNA1A-related disorder [RCV003985597] Chr19:13208944 [GRCh38]
Chr19:13319758 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3641C>T (p.Pro1214Leu) single nucleotide variant Migraine, familial hemiplegic, 1 [RCV003444425] Chr19:13285119 [GRCh38]
Chr19:13395933 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.264A>C (p.Arg88Ser) single nucleotide variant CACNA1A-related disorder [RCV003985593] Chr19:13505961 [GRCh38]
Chr19:13616775 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5515G>T (p.Asp1839Tyr) single nucleotide variant CACNA1A-related disorder [RCV003985624] Chr19:13230095 [GRCh38]
Chr19:13340909 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.271G>C (p.Ala91Pro) single nucleotide variant CACNA1A-related disorder [RCV003985592] Chr19:13505954 [GRCh38]
Chr19:13616768 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4872T>C (p.Tyr1624=) single nucleotide variant not provided [RCV003421856] Chr19:13245260 [GRCh38]
Chr19:13356074 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3138dup (p.Thr1047fs) duplication Seizure [RCV003412536] Chr19:13286917..13286918 [GRCh38]
Chr19:13397731..13397732 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6030G>T (p.Gln2010His) single nucleotide variant not provided [RCV003421855] Chr19:13212651 [GRCh38]
Chr19:13323465 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2270_2273dup (p.Ala759fs) duplication CACNA1A-related disorder [RCV003985618] Chr19:13300555..13300556 [GRCh38]
Chr19:13411369..13411370 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1624A>T (p.Thr542Ser) single nucleotide variant Episodic ataxia type 2 [RCV003778402]|not provided [RCV003423369] Chr19:13312713 [GRCh38]
Chr19:13423527 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5780_5783dup (p.Ile1929fs) duplication CACNA1A-related disorder [RCV003985594] Chr19:13214556..13214557 [GRCh38]
Chr19:13325370..13325371 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6780+1G>A single nucleotide variant Neurodevelopmental disorder [RCV003389189] Chr19:13208755 [GRCh38]
Chr19:13319569 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3638G>A (p.Gly1213Asp) single nucleotide variant not provided [RCV003441339] Chr19:13285122 [GRCh38]
Chr19:13395936 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7408C>T (p.Arg2470Trp) single nucleotide variant not provided [RCV003406866] Chr19:13207426 [GRCh38]
Chr19:13318240 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6848G>A (p.Arg2283His) single nucleotide variant not provided [RCV003442549] Chr19:13207986 [GRCh38]
Chr19:13318800 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1154T>C (p.Ile385Thr) single nucleotide variant Episodic ataxia type 2 [RCV003797591] Chr19:13334422 [GRCh38]
Chr19:13445236 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6189+6T>C single nucleotide variant Episodic ataxia type 2 [RCV003797049] Chr19:13212378 [GRCh38]
Chr19:13323192 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1556-5T>C single nucleotide variant Episodic ataxia type 2 [RCV003793877] Chr19:13312786 [GRCh38]
Chr19:13423600 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4314T>C (p.Tyr1438=) single nucleotide variant Episodic ataxia type 2 [RCV003807701] Chr19:13259638 [GRCh38]
Chr19:13370452 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6243C>T (p.Tyr2081=) single nucleotide variant Episodic ataxia type 2 [RCV003807834] Chr19:13212163 [GRCh38]
Chr19:13322977 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.258G>C (p.Val86=) single nucleotide variant Episodic ataxia type 2 [RCV003793689] Chr19:13505967 [GRCh38]
Chr19:13616781 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3515C>T (p.Pro1172Leu) single nucleotide variant Episodic ataxia type 2 [RCV003806657] Chr19:13286541 [GRCh38]
Chr19:13397355 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5400+17T>C single nucleotide variant Episodic ataxia type 2 [RCV003797623] Chr19:13231693 [GRCh38]
Chr19:13342507 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5251A>C (p.Ser1751Arg) single nucleotide variant Episodic ataxia type 2 [RCV003792484] Chr19:13231859 [GRCh38]
Chr19:13342673 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2997C>T (p.Gly999=) single nucleotide variant Episodic ataxia type 2 [RCV003805270] Chr19:13298636 [GRCh38]
Chr19:13409450 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2280-12A>G single nucleotide variant Episodic ataxia type 2 [RCV003795023] Chr19:13299365 [GRCh38]
Chr19:13410179 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3112C>T (p.Pro1038Ser) single nucleotide variant not provided [RCV003490528] Chr19:13286944 [GRCh38]
Chr19:13397758 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2000A>C (p.Glu667Ala) single nucleotide variant Episodic ataxia type 2 [RCV003783734] Chr19:13303871 [GRCh38]
Chr19:13414685 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6527G>A (p.Gly2176Asp) single nucleotide variant Episodic ataxia type 2 [RCV003804146] Chr19:13209009 [GRCh38]
Chr19:13319823 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5809A>T (p.Thr1937Ser) single nucleotide variant Episodic ataxia type 2 [RCV003804195] Chr19:13214531 [GRCh38]
Chr19:13325345 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.19G>A (p.Glu7Lys) single nucleotide variant Episodic ataxia type 2 [RCV003797614] Chr19:13506206 [GRCh38]
Chr19:13617020 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5425A>G (p.Ile1809Val) single nucleotide variant Episodic ataxia type 2 [RCV003807838] Chr19:13230185 [GRCh38]
Chr19:13340999 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.4388+3A>G single nucleotide variant Episodic ataxia type 2 [RCV003782640] Chr19:13259561 [GRCh38]
Chr19:13370375 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.596T>C (p.Val199Ala) single nucleotide variant Episodic ataxia type 2 [RCV003804538] Chr19:13371723 [GRCh38]
Chr19:13482537 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2973C>G (p.Gly991=) single nucleotide variant Episodic ataxia type 2 [RCV003794279] Chr19:13298660 [GRCh38]
Chr19:13409474 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3798G>A (p.Val1266=) single nucleotide variant Episodic ataxia type 2 [RCV003792998] Chr19:13283291 [GRCh38]
Chr19:13394105 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3168C>G (p.Arg1056=) single nucleotide variant Episodic ataxia type 2 [RCV003794392] Chr19:13286888 [GRCh38]
Chr19:13397702 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6572C>A (p.Pro2191Gln) single nucleotide variant Episodic ataxia type 2 [RCV003794232] Chr19:13208964 [GRCh38]
Chr19:13319778 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6527-4C>T single nucleotide variant Episodic ataxia type 2 [RCV003784144] Chr19:13209013 [GRCh38]
Chr19:13319827 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2173-8C>T single nucleotide variant Episodic ataxia type 2 [RCV003795816] Chr19:13300664 [GRCh38]
Chr19:13411478 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4991C>G (p.Ala1664Gly) single nucleotide variant Episodic ataxia type 2 [RCV003806956] Chr19:13235690 [GRCh38]
Chr19:13346504 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4748TGA[1] (p.Met1584del) microsatellite Episodic ataxia type 2 [RCV003807626] Chr19:13255097..13255099 [GRCh38]
Chr19:13365911..13365913 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6422A>G (p.Glu2141Gly) single nucleotide variant Episodic ataxia type 2 [RCV003781691] Chr19:13209416 [GRCh38]
Chr19:13320230 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3553+19A>T single nucleotide variant Episodic ataxia type 2 [RCV003792055] Chr19:13286484 [GRCh38]
Chr19:13397298 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1198+15T>C single nucleotide variant Episodic ataxia type 2 [RCV003787809] Chr19:13334363 [GRCh38]
Chr19:13445177 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4526TCA[2] (p.Ile1511del) microsatellite Episodic ataxia type 2 [RCV003786496] Chr19:13257406..13257408 [GRCh38]
Chr19:13368220..13368222 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.8G>A (p.Arg3His) single nucleotide variant Episodic ataxia type 2 [RCV003793275] Chr19:13506217 [GRCh38]
Chr19:13617031 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5068-19T>C single nucleotide variant Episodic ataxia type 2 [RCV003806052] Chr19:13235293 [GRCh38]
Chr19:13346107 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2873A>G (p.His958Arg) single nucleotide variant Episodic ataxia type 2 [RCV003797567] Chr19:13298760 [GRCh38]
Chr19:13409574 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.666G>C (p.Ala222=) single nucleotide variant Episodic ataxia type 2 [RCV003797681] Chr19:13365435 [GRCh38]
Chr19:13476249 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1256-6T>C single nucleotide variant Episodic ataxia type 2 [RCV003794598] Chr19:13330339 [GRCh38]
Chr19:13441153 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2685A>T (p.Gly895=) single nucleotide variant Episodic ataxia type 2 [RCV003784481] Chr19:13298948 [GRCh38]
Chr19:13409762 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3882+15T>G single nucleotide variant Episodic ataxia type 2 [RCV003796140] Chr19:13277054 [GRCh38]
Chr19:13387868 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4345C>A (p.Leu1449Met) single nucleotide variant Episodic ataxia type 2 [RCV003797773] Chr19:13259607 [GRCh38]
Chr19:13370421 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1083-12A>G single nucleotide variant Episodic ataxia type 2 [RCV003788087] Chr19:13334505 [GRCh38]
Chr19:13445319 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3844G>C (p.Val1282Leu) single nucleotide variant Episodic ataxia type 2 [RCV003796911] Chr19:13277107 [GRCh38]
Chr19:13387921 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3823-16C>T single nucleotide variant Episodic ataxia type 2 [RCV003807134] Chr19:13277144 [GRCh38]
Chr19:13387958 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1082+20C>T single nucleotide variant Episodic ataxia type 2 [RCV003797386] Chr19:13335786 [GRCh38]
Chr19:13446600 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5473C>T (p.Pro1825Ser) single nucleotide variant Episodic ataxia type 2 [RCV003805107] Chr19:13230137 [GRCh38]
Chr19:13340951 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2823G>C (p.Glu941Asp) single nucleotide variant Episodic ataxia type 2 [RCV003785736] Chr19:13298810 [GRCh38]
Chr19:13409624 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6408C>A (p.Asp2136Glu) single nucleotide variant Episodic ataxia type 2 [RCV003806876] Chr19:13209430 [GRCh38]
Chr19:13320244 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1472C>T (p.Thr491Ile) single nucleotide variant Episodic ataxia type 2 [RCV003788143] Chr19:13317195 [GRCh38]
Chr19:13428009 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5262G>A (p.Gly1754=) single nucleotide variant Episodic ataxia type 2 [RCV003794250] Chr19:13231848 [GRCh38]
Chr19:13342662 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1480A>G (p.Ser494Gly) single nucleotide variant Episodic ataxia type 2 [RCV003794277] Chr19:13317187 [GRCh38]
Chr19:13428001 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.785-17C>G single nucleotide variant Episodic ataxia type 2 [RCV003785348] Chr19:13359816 [GRCh38]
Chr19:13470630 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2299C>A (p.Gln767Lys) single nucleotide variant Episodic ataxia type 2 [RCV003792169] Chr19:13299334 [GRCh38]
Chr19:13410148 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.981C>G (p.Ser327Arg) single nucleotide variant Episodic ataxia type 2 [RCV003782639] Chr19:13335907 [GRCh38]
Chr19:13446721 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.51del (p.Ala19fs) deletion Episodic ataxia type 2 [RCV003782643] Chr19:13506174 [GRCh38]
Chr19:13616988 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.1197A>T (p.Ala399=) single nucleotide variant Episodic ataxia type 2 [RCV003805236] Chr19:13334379 [GRCh38]
Chr19:13445193 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4941T>A (p.Thr1647=) single nucleotide variant Episodic ataxia type 2 [RCV003805238] Chr19:13245191 [GRCh38]
Chr19:13356005 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.2965G>T (p.Gly989Cys) single nucleotide variant Episodic ataxia type 2 [RCV003787468] Chr19:13298668 [GRCh38]
Chr19:13409482 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5528+17A>C single nucleotide variant Episodic ataxia type 2 [RCV003788218] Chr19:13230065 [GRCh38]
Chr19:13340879 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2654G>A (p.Gly885Glu) single nucleotide variant Episodic ataxia type 2 [RCV003792979] Chr19:13298979 [GRCh38]
Chr19:13409793 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6473G>T (p.Arg2158Leu) single nucleotide variant Episodic ataxia type 2 [RCV003794354] Chr19:13209365 [GRCh38]
Chr19:13320179 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2518G>C (p.Ala840Pro) single nucleotide variant Episodic ataxia type 2 [RCV003805255] Chr19:13299115 [GRCh38]
Chr19:13409929 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3693-4A>G single nucleotide variant Episodic ataxia type 2 [RCV003784729] Chr19:13283400 [GRCh38]
Chr19:13394214 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2016C>T (p.Val672=) single nucleotide variant Episodic ataxia type 2 [RCV003795702] Chr19:13303855 [GRCh38]
Chr19:13414669 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3225C>T (p.Thr1075=) single nucleotide variant Episodic ataxia type 2 [RCV003784205] Chr19:13286831 [GRCh38]
Chr19:13397645 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1617del (p.Thr542fs) deletion Episodic ataxia type 2 [RCV003796376] Chr19:13312720 [GRCh38]
Chr19:13423534 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3089+15C>T single nucleotide variant Episodic ataxia type 2 [RCV003791134] Chr19:13298529 [GRCh38]
Chr19:13409343 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1498A>G (p.Thr500Ala) single nucleotide variant Episodic ataxia type 2 [RCV003785421] Chr19:13317169 [GRCh38]
Chr19:13427983 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.4951-5C>A single nucleotide variant Episodic ataxia type 2 [RCV003796397] Chr19:13235735 [GRCh38]
Chr19:13346549 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2495A>G (p.Asn832Ser) single nucleotide variant Episodic ataxia type 2 [RCV003781016] Chr19:13299138 [GRCh38]
Chr19:13409952 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4866+18G>T single nucleotide variant Episodic ataxia type 2 [RCV003793108] Chr19:13252973 [GRCh38]
Chr19:13363787 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5249+19C>T single nucleotide variant Episodic ataxia type 2 [RCV003793827] Chr19:13234902 [GRCh38]
Chr19:13345716 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5416G>A (p.Val1806Ile) single nucleotide variant Episodic ataxia type 2 [RCV003804090] Chr19:13230194 [GRCh38]
Chr19:13341008 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3000G>T (p.Glu1000Asp) single nucleotide variant Episodic ataxia type 2 [RCV003805454] Chr19:13298633 [GRCh38]
Chr19:13409447 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3453C>G (p.Gly1151=) single nucleotide variant Episodic ataxia type 2 [RCV003782860] Chr19:13286603 [GRCh38]
Chr19:13397417 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6488_6489del (p.Ala2162_Ser2163insTer) microsatellite Episodic ataxia type 2 [RCV003785466] Chr19:13209349..13209350 [GRCh38]
Chr19:13320163..13320164 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3461C>G (p.Thr1154Ser) single nucleotide variant Episodic ataxia type 2 [RCV003796413] Chr19:13286595 [GRCh38]
Chr19:13397409 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1345+12C>T single nucleotide variant Episodic ataxia type 2 [RCV003791433] Chr19:13330232 [GRCh38]
Chr19:13441046 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3883-14C>T single nucleotide variant Episodic ataxia type 2 [RCV003793917] Chr19:13275970 [GRCh38]
Chr19:13386784 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.286G>T (p.Glu96Ter) single nucleotide variant Episodic ataxia type 2 [RCV003805033] Chr19:13505939 [GRCh38]
Chr19:13616753 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3692+7A>G single nucleotide variant Episodic ataxia type 2 [RCV003805650] Chr19:13285061 [GRCh38]
Chr19:13395875 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2587C>G (p.Arg863Gly) single nucleotide variant Episodic ataxia type 2 [RCV003785154] Chr19:13299046 [GRCh38]
Chr19:13409860 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6634C>G (p.His2212Asp) single nucleotide variant Episodic ataxia type 2 [RCV003806063] Chr19:13208902 [GRCh38]
Chr19:13319716 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4020G>A (p.Thr1340=) single nucleotide variant Episodic ataxia type 2 [RCV003795843] Chr19:13262803 [GRCh38]
Chr19:13373617 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6304-6T>G single nucleotide variant Episodic ataxia type 2 [RCV003786160] Chr19:13210658 [GRCh38]
Chr19:13321472 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5188T>C (p.Phe1730Leu) single nucleotide variant Episodic ataxia type 2 [RCV003795306] Chr19:13234982 [GRCh38]
Chr19:13345796 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2896G>C (p.Glu966Gln) single nucleotide variant Episodic ataxia type 2 [RCV003795310] Chr19:13298737 [GRCh38]
Chr19:13409551 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5458T>C (p.Ser1820Pro) single nucleotide variant Episodic ataxia type 2 [RCV003785594] Chr19:13230152 [GRCh38]
Chr19:13340966 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1345+15C>T single nucleotide variant Episodic ataxia type 2 [RCV003786371] Chr19:13330229 [GRCh38]
Chr19:13441043 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3409C>A (p.Pro1137Thr) single nucleotide variant Episodic ataxia type 2 [RCV003790509] Chr19:13286647 [GRCh38]
Chr19:13397461 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5106C>T (p.Phe1702=) single nucleotide variant Episodic ataxia type 2 [RCV003790511] Chr19:13235236 [GRCh38]
Chr19:13346050 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2962G>A (p.Gly988Ser) single nucleotide variant Episodic ataxia type 2 [RCV003792547] Chr19:13298671 [GRCh38]
Chr19:13409485 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1255+3A>G single nucleotide variant Episodic ataxia type 2 [RCV003783052] Chr19:13332866 [GRCh38]
Chr19:13443680 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5080G>T (p.Val1694Phe) single nucleotide variant Episodic ataxia type 2 [RCV003783732] Chr19:13235262 [GRCh38]
Chr19:13346076 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4590+6A>G single nucleotide variant Episodic ataxia type 2 [RCV003789299] Chr19:13257344 [GRCh38]
Chr19:13368158 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.480C>T (p.His160=) single nucleotide variant Episodic ataxia type 2 [RCV003782974] Chr19:13452935 [GRCh38]
Chr19:13563749 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4250+19G>A single nucleotide variant Episodic ataxia type 2 [RCV003796143] Chr19:13261431 [GRCh38]
Chr19:13372245 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1836dup (p.Ile613fs) duplication Episodic ataxia type 2 [RCV003806179] Chr19:13308196..13308197 [GRCh38]
Chr19:13419010..13419011 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.399+4A>G single nucleotide variant Episodic ataxia type 2 [RCV003793429] Chr19:13455103 [GRCh38]
Chr19:13565917 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3329C>A (p.Pro1110His) single nucleotide variant Episodic ataxia type 2 [RCV003784426] Chr19:13286727 [GRCh38]
Chr19:13397541 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.547G>A (p.Ala183Thr) single nucleotide variant Episodic ataxia type 2 [RCV003806405] Chr19:13371772 [GRCh38]
Chr19:13482586 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5924C>A (p.Ala1975Asp) single nucleotide variant Episodic ataxia type 2 [RCV003806806] Chr19:13214249 [GRCh38]
Chr19:13325063 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3090-3C>T single nucleotide variant Episodic ataxia type 2 [RCV003790685] Chr19:13286969 [GRCh38]
Chr19:13397783 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2694C>T (p.Gly898=) single nucleotide variant Episodic ataxia type 2 [RCV003791899] Chr19:13298939 [GRCh38]
Chr19:13409753 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.970dup (p.Leu324fs) duplication Episodic ataxia type 2 [RCV003805034] Chr19:13359613..13359614 [GRCh38]
Chr19:13470427..13470428 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2447A>G (p.Lys816Arg) single nucleotide variant Episodic ataxia type 2 [RCV003795516] Chr19:13299186 [GRCh38]
Chr19:13410000 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5068-6dup duplication Episodic ataxia type 2 [RCV003788086] Chr19:13235279..13235280 [GRCh38]
Chr19:13346093..13346094 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2840C>G (p.Pro947Arg) single nucleotide variant Episodic ataxia type 2 [RCV003788802] Chr19:13298793 [GRCh38]
Chr19:13409607 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2175C>T (p.Asp725=) single nucleotide variant Episodic ataxia type 2 [RCV003783851] Chr19:13300654 [GRCh38]
Chr19:13411468 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4908T>C (p.Thr1636=) single nucleotide variant Episodic ataxia type 2 [RCV003785223] Chr19:13245224 [GRCh38]
Chr19:13356038 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4388+16G>A single nucleotide variant Episodic ataxia type 2 [RCV003796235] Chr19:13259548 [GRCh38]
Chr19:13370362 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5133+3G>A single nucleotide variant Episodic ataxia type 2 [RCV003794079] Chr19:13235206 [GRCh38]
Chr19:13346020 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4233G>A (p.Glu1411=) single nucleotide variant not provided [RCV003490529] Chr19:13261467 [GRCh38]
Chr19:13372281 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1708A>G (p.Ile570Val) single nucleotide variant Episodic ataxia type 2 [RCV003782294] Chr19:13308489 [GRCh38]
Chr19:13419303 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2813del (p.Gly938fs) deletion Episodic ataxia type 2 [RCV003783733] Chr19:13298820 [GRCh38]
Chr19:13409634 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5133+2T>A single nucleotide variant Episodic ataxia type 2 [RCV003804222] Chr19:13235207 [GRCh38]
Chr19:13346021 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.978+19G>A single nucleotide variant Episodic ataxia type 2 [RCV003804778] Chr19:13359587 [GRCh38]
Chr19:13470401 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6190-8C>T single nucleotide variant Episodic ataxia type 2 [RCV003785541] Chr19:13212224 [GRCh38]
Chr19:13323038 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4867-13G>T single nucleotide variant Episodic ataxia type 2 [RCV003806936] Chr19:13245278 [GRCh38]
Chr19:13356092 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5009T>G (p.Leu1670Arg) single nucleotide variant Episodic ataxia type 2 [RCV003787817] Chr19:13235672 [GRCh38]
Chr19:13346486 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5941-12C>T single nucleotide variant Episodic ataxia type 2 [RCV003790008] Chr19:13212752 [GRCh38]
Chr19:13323566 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2481_2482delinsTT (p.Gln828Ter) indel Episodic ataxia type 2 [RCV003794619] Chr19:13299151..13299152 [GRCh38]
Chr19:13409965..13409966 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5678A>G (p.Asn1893Ser) single nucleotide variant Episodic ataxia type 2 [RCV003790645] Chr19:13224720 [GRCh38]
Chr19:13335534 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5941-5C>G single nucleotide variant Episodic ataxia type 2 [RCV003790663] Chr19:13212745 [GRCh38]
Chr19:13323559 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1914-20T>C single nucleotide variant Episodic ataxia type 2 [RCV003804887] Chr19:13307874 [GRCh38]
Chr19:13418688 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.539+12G>C single nucleotide variant Episodic ataxia type 2 [RCV003805253] Chr19:13452864 [GRCh38]
Chr19:13563678 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6565del (p.Asp2189fs) deletion Episodic ataxia type 2 [RCV003795143] Chr19:13208971 [GRCh38]
Chr19:13319785 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3349C>A (p.Gln1117Lys) single nucleotide variant Episodic ataxia type 2 [RCV003795494] Chr19:13286707 [GRCh38]
Chr19:13397521 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5988G>C (p.Thr1996=) single nucleotide variant Episodic ataxia type 2 [RCV003807029] Chr19:13212693 [GRCh38]
Chr19:13323507 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1082+19C>A single nucleotide variant Episodic ataxia type 2 [RCV003790989] Chr19:13335787 [GRCh38]
Chr19:13446601 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.75G>C (p.Val25=) single nucleotide variant Episodic ataxia type 2 [RCV003787967] Chr19:13506150 [GRCh38]
Chr19:13616964 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6067G>C (p.Gly2023Arg) single nucleotide variant Episodic ataxia type 2 [RCV003795162] Chr19:13212506 [GRCh38]
Chr19:13323320 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2519C>T (p.Ala840Val) single nucleotide variant Episodic ataxia type 2 [RCV003786128] Chr19:13299114 [GRCh38]
Chr19:13409928 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6527-10C>A single nucleotide variant Episodic ataxia type 2 [RCV003793052] Chr19:13209019 [GRCh38]
Chr19:13319833 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1913+11C>T single nucleotide variant Episodic ataxia type 2 [RCV003806288] Chr19:13308109 [GRCh38]
Chr19:13418923 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3089+4A>G single nucleotide variant Episodic ataxia type 2 [RCV003806685] Chr19:13298540 [GRCh38]
Chr19:13409354 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5528+12C>T single nucleotide variant Episodic ataxia type 2 [RCV003791364] Chr19:13230070 [GRCh38]
Chr19:13340884 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3478G>T (p.Ala1160Ser) single nucleotide variant Episodic ataxia type 2 [RCV003793259] Chr19:13286578 [GRCh38]
Chr19:13397392 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2523C>T (p.Ala841=) single nucleotide variant Episodic ataxia type 2 [RCV003787369] Chr19:13299110 [GRCh38]
Chr19:13409924 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.539+18T>A single nucleotide variant Episodic ataxia type 2 [RCV003794728] Chr19:13452858 [GRCh38]
Chr19:13563672 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1255+11T>C single nucleotide variant Episodic ataxia type 2 [RCV003794718] Chr19:13332858 [GRCh38]
Chr19:13443672 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1448T>A (p.Val483Asp) single nucleotide variant Episodic ataxia type 2 [RCV003779437] Chr19:13317219 [GRCh38]
Chr19:13428033 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3089+18C>G single nucleotide variant Episodic ataxia type 2 [RCV003784468] Chr19:13298526 [GRCh38]
Chr19:13409340 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1669-7G>C single nucleotide variant Episodic ataxia type 2 [RCV003807358] Chr19:13308535 [GRCh38]
Chr19:13419349 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3190G>C (p.Asp1064His) single nucleotide variant Episodic ataxia type 2 [RCV003782972] Chr19:13286866 [GRCh38]
Chr19:13397680 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1628G>A (p.Arg543Gln) single nucleotide variant Episodic ataxia type 2 [RCV003790302] Chr19:13312709 [GRCh38]
Chr19:13423523 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2801A>G (p.His934Arg) single nucleotide variant Episodic ataxia type 2 [RCV003805054] Chr19:13298832 [GRCh38]
Chr19:13409646 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3545T>C (p.Val1182Ala) single nucleotide variant Episodic ataxia type 2 [RCV003785855] Chr19:13286511 [GRCh38]
Chr19:13397325 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4951A>G (p.Asn1651Asp) single nucleotide variant Episodic ataxia type 2 [RCV003797133] Chr19:13235730 [GRCh38]
Chr19:13346544 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6757C>G (p.Arg2253Gly) single nucleotide variant Episodic ataxia type 2 [RCV003791903] Chr19:13208779 [GRCh38]
Chr19:13319593 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2950C>G (p.Arg984Gly) single nucleotide variant Episodic ataxia type 2 [RCV003789746] Chr19:13298683 [GRCh38]
Chr19:13409497 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5528+15C>A single nucleotide variant Episodic ataxia type 2 [RCV003795778] Chr19:13230067 [GRCh38]
Chr19:13340881 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-1185G>C single nucleotide variant Episodic ataxia type 2 [RCV003806413] Chr19:13228712 [GRCh38]
Chr19:13339526 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6702C>T (p.Asp2234=) single nucleotide variant Episodic ataxia type 2 [RCV003796480] Chr19:13208834 [GRCh38]
Chr19:13319648 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3267C>T (p.Gly1089=) single nucleotide variant Episodic ataxia type 2 [RCV003806799] Chr19:13286789 [GRCh38]
Chr19:13397603 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6696_6697delinsTT (p.Pro2233Ser) indel Episodic ataxia type 2 [RCV003796835] Chr19:13208839..13208840 [GRCh38]
Chr19:13319653..13319654 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6477C>T (p.Ser2159=) single nucleotide variant Episodic ataxia type 2 [RCV003788306] Chr19:13209361 [GRCh38]
Chr19:13320175 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4073G>A (p.Arg1358Gln) single nucleotide variant Episodic ataxia type 2 [RCV003788343] Chr19:13262750 [GRCh38]
Chr19:13373564 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6672C>T (p.Asp2224=) single nucleotide variant Episodic ataxia type 2 [RCV003805092] Chr19:13208864 [GRCh38]
Chr19:13319678 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3693-3C>T single nucleotide variant Episodic ataxia type 2 [RCV003805931] Chr19:13283399 [GRCh38]
Chr19:13394213 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1881C>G (p.Phe627Leu) single nucleotide variant Episodic ataxia type 2 [RCV003806441] Chr19:13308152 [GRCh38]
Chr19:13418966 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6703C>G (p.His2235Asp) single nucleotide variant Episodic ataxia type 2 [RCV003796918] Chr19:13208833 [GRCh38]
Chr19:13319647 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4090-3C>T single nucleotide variant Episodic ataxia type 2 [RCV003793708] Chr19:13261613 [GRCh38]
Chr19:13372427 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6732C>G (p.Arg2244=) single nucleotide variant Episodic ataxia type 2 [RCV003795364] Chr19:13208804 [GRCh38]
Chr19:13319618 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.937C>T (p.Gln313Ter) single nucleotide variant Episodic ataxia type 2 [RCV003785554] Chr19:13359647 [GRCh38]
Chr19:13470461 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.80G>T (p.Ser27Ile) single nucleotide variant Episodic ataxia type 2 [RCV003784667] Chr19:13506145 [GRCh38]
Chr19:13616959 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.810T>C (p.Ala270=) single nucleotide variant Episodic ataxia type 2 [RCV003805674] Chr19:13359774 [GRCh38]
Chr19:13470588 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6291T>C (p.Pro2097=) single nucleotide variant Episodic ataxia type 2 [RCV003805677] Chr19:13212115 [GRCh38]
Chr19:13322929 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1986+16G>C single nucleotide variant Episodic ataxia type 2 [RCV003795873] Chr19:13307766 [GRCh38]
Chr19:13418580 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5068-3C>T single nucleotide variant Episodic ataxia type 2 [RCV003806493] Chr19:13235277 [GRCh38]
Chr19:13346091 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4172C>T (p.Ala1391Val) single nucleotide variant Episodic ataxia type 2 [RCV003805243] Chr19:13261528 [GRCh38]
Chr19:13372342 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6277A>G (p.Met2093Val) single nucleotide variant Episodic ataxia type 2 [RCV003793129] Chr19:13212129 [GRCh38]
Chr19:13322943 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6284G>A (p.Arg2095His) single nucleotide variant Episodic ataxia type 2 [RCV003790936] Chr19:13212122 [GRCh38]
Chr19:13322936 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1240A>G single nucleotide variant Episodic ataxia type 2 [RCV003781734] Chr19:13228767 [GRCh38]
Chr19:13339581 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.800A>G (p.Glu267Gly) single nucleotide variant Episodic ataxia type 2 [RCV003804451] Chr19:13359784 [GRCh38]
Chr19:13470598 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2312A>G (p.Lys771Arg) single nucleotide variant Episodic ataxia type 2 [RCV003791139] Chr19:13299321 [GRCh38]
Chr19:13410135 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.199G>A (p.Val67Ile) single nucleotide variant Episodic ataxia type 2 [RCV003793658] Chr19:13506026 [GRCh38]
Chr19:13616840 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2440G>A (p.Asp814Asn) single nucleotide variant Episodic ataxia type 2 [RCV003783948] Chr19:13299193 [GRCh38]
Chr19:13410007 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3597_3599del (p.Glu1200del) deletion Episodic ataxia type 2 [RCV003793694] Chr19:13285161..13285163 [GRCh38]
Chr19:13395975..13395977 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6678C>T (p.Asp2226=) single nucleotide variant Episodic ataxia type 2 [RCV003792115] Chr19:13208858 [GRCh38]
Chr19:13319672 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3855C>T (p.Gly1285=) single nucleotide variant Episodic ataxia type 2 [RCV003789078] Chr19:13277096 [GRCh38]
Chr19:13387910 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3358G>A (p.Ala1120Thr) single nucleotide variant Episodic ataxia type 2 [RCV003789148] Chr19:13286698 [GRCh38]
Chr19:13397512 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2291A>G (p.Gln764Arg) single nucleotide variant Episodic ataxia type 2 [RCV003787396] Chr19:13299342 [GRCh38]
Chr19:13410156 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.998A>G (p.Asn333Ser) single nucleotide variant Episodic ataxia type 2 [RCV003780793] Chr19:13335890 [GRCh38]
Chr19:13446704 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6189+10T>C single nucleotide variant Episodic ataxia type 2 [RCV003791055] Chr19:13212374 [GRCh38]
Chr19:13323188 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-1270A>G single nucleotide variant Episodic ataxia type 2 [RCV003787414] Chr19:13228797 [GRCh38]
Chr19:13339611 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.5732-7A>G single nucleotide variant Episodic ataxia type 2 [RCV003781201] Chr19:13214615 [GRCh38]
Chr19:13325429 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3018G>A (p.Arg1006=) single nucleotide variant Episodic ataxia type 2 [RCV003781202] Chr19:13298615 [GRCh38]
Chr19:13409429 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1851G>C (p.Leu617Phe) single nucleotide variant Developmental and epileptic encephalopathy, 42 [RCV003592048] Chr19:13308182 [GRCh38]
Chr19:13418996 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.979-13T>C single nucleotide variant Episodic ataxia type 2 [RCV003787566] Chr19:13335922 [GRCh38]
Chr19:13446736 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4756-12T>G single nucleotide variant Episodic ataxia type 2 [RCV003787567] Chr19:13253113 [GRCh38]
Chr19:13363927 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4792C>T (p.Arg1598Trp) single nucleotide variant Episodic ataxia type 2 [RCV003788497] Chr19:13253065 [GRCh38]
Chr19:13363879 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6516T>C (p.Asp2172=) single nucleotide variant Episodic ataxia type 2 [RCV003782115] Chr19:13209322 [GRCh38]
Chr19:13320136 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6195G>A (p.Val2065=) single nucleotide variant Episodic ataxia type 2 [RCV003791561] Chr19:13212211 [GRCh38]
Chr19:13323025 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.819G>C (p.Gly273=) single nucleotide variant Episodic ataxia type 2 [RCV003792485] Chr19:13359765 [GRCh38]
Chr19:13470579 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6158C>A (p.Thr2053Asn) single nucleotide variant Episodic ataxia type 2 [RCV003780072] Chr19:13212415 [GRCh38]
Chr19:13323229 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2858G>A (p.Gly953Glu) single nucleotide variant Episodic ataxia type 2 [RCV003790656] Chr19:13298775 [GRCh38]
Chr19:13409589 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6189+10_6189+65del deletion Episodic ataxia type 2 [RCV003781302] Chr19:13212319..13212374 [GRCh38]
Chr19:13323133..13323188 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4590+13A>C single nucleotide variant Episodic ataxia type 2 [RCV003792520] Chr19:13257337 [GRCh38]
Chr19:13368151 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2401G>A (p.Glu801Lys) single nucleotide variant Episodic ataxia type 2 [RCV003787896] Chr19:13299232 [GRCh38]
Chr19:13410046 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.529G>T (p.Val177Leu) single nucleotide variant not provided [RCV003490530] Chr19:13452886 [GRCh38]
Chr19:13563700 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.79A>G (p.Ser27Gly) single nucleotide variant Episodic ataxia type 2 [RCV003787642] Chr19:13506146 [GRCh38]
Chr19:13616960 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4716G>A (p.Met1572Ile) single nucleotide variant Episodic ataxia type 2 [RCV003782740] Chr19:13255134 [GRCh38]
Chr19:13365948 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3319C>T (p.Leu1107=) single nucleotide variant Episodic ataxia type 2 [RCV003793441] Chr19:13286737 [GRCh38]
Chr19:13397551 [GRCh37]
Chr19:19p13.13		 benign
NM_001127222.2(CACNA1A):c.492del (p.Tyr164_Leu165insTer) deletion Episodic ataxia type 2 [RCV003804173] Chr19:13452923 [GRCh38]
Chr19:13563737 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4090-24CT[2] microsatellite Episodic ataxia type 2 [RCV003788803] Chr19:13261629..13261630 [GRCh38]
Chr19:13372443..13372444 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2512A>G (p.Ser838Gly) single nucleotide variant Episodic ataxia type 2 [RCV003780244] Chr19:13299121 [GRCh38]
Chr19:13409935 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3989+19G>A single nucleotide variant Episodic ataxia type 2 [RCV003782306] Chr19:13275831 [GRCh38]
Chr19:13386645 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3089+18C>T single nucleotide variant Episodic ataxia type 2 [RCV003782321] Chr19:13298526 [GRCh38]
Chr19:13409340 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6623G>A (p.Arg2208Gln) single nucleotide variant Episodic ataxia type 2 [RCV003789680] Chr19:13208913 [GRCh38]
Chr19:13319727 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6651C>T (p.His2217=) single nucleotide variant Episodic ataxia type 2 [RCV003782330] Chr19:13208885 [GRCh38]
Chr19:13319699 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6544A>T (p.Ser2182Cys) single nucleotide variant Episodic ataxia type 2 [RCV003782806] Chr19:13208992 [GRCh38]
Chr19:13319806 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4867-11C>A single nucleotide variant Episodic ataxia type 2 [RCV003794012] Chr19:13245276 [GRCh38]
Chr19:13356090 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3533T>C (p.Leu1178Pro) single nucleotide variant Episodic ataxia type 2 [RCV003794096] Chr19:13286523 [GRCh38]
Chr19:13397337 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1470G>A (p.Trp490Ter) single nucleotide variant Episodic ataxia type 2 [RCV003779401] Chr19:13317197 [GRCh38]
Chr19:13428011 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6188A>G (p.Gln2063Arg) single nucleotide variant Episodic ataxia type 2 [RCV003779436] Chr19:13212385 [GRCh38]
Chr19:13323199 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4867-7A>C single nucleotide variant Episodic ataxia type 2 [RCV003793537] Chr19:13245272 [GRCh38]
Chr19:13356086 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3691C>T (p.Pro1231Ser) single nucleotide variant Episodic ataxia type 2 [RCV003783157] Chr19:13285069 [GRCh38]
Chr19:13395883 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6046G>A (p.Ala2016Thr) single nucleotide variant Episodic ataxia type 2 [RCV003790831] Chr19:13212635 [GRCh38]
Chr19:13323449 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5248C>G (p.Arg1750Gly) single nucleotide variant Episodic ataxia type 2 [RCV003800924] Chr19:13234922 [GRCh38]
Chr19:13345736 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.78C>A (p.Gly26=) single nucleotide variant Episodic ataxia type 2 [RCV003799829] Chr19:13506147 [GRCh38]
Chr19:13616961 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4605T>G (p.Asp1535Glu) single nucleotide variant Episodic ataxia type 2 [RCV003813229] Chr19:13255245 [GRCh38]
Chr19:13366059 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1323G>A (p.Gln441=) single nucleotide variant Episodic ataxia type 2 [RCV003808964] Chr19:13330266 [GRCh38]
Chr19:13441080 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.620C>T (p.Ser207Phe) single nucleotide variant Episodic ataxia type 2 [RCV003799813] Chr19:13371699 [GRCh38]
Chr19:13482513 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5642_5692del (p.Asp1881_Met1897del) deletion Episodic ataxia type 2 [RCV003810014] Chr19:13224706..13224756 [GRCh38]
Chr19:13335520..13335570 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6303+3G>A single nucleotide variant Episodic ataxia type 2 [RCV003798956] Chr19:13212100 [GRCh38]
Chr19:13322914 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1355del (p.Phe452fs) deletion Episodic ataxia type 2 [RCV003812316] Chr19:13317312 [GRCh38]
Chr19:13428126 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.26C>G (p.Pro9Arg) single nucleotide variant Episodic ataxia type 2 [RCV003800047] Chr19:13506199 [GRCh38]
Chr19:13617013 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5051T>C (p.Phe1684Ser) single nucleotide variant Episodic ataxia type 2 [RCV003810167] Chr19:13235630 [GRCh38]
Chr19:13346444 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2046C>A (p.Gly682=) single nucleotide variant Episodic ataxia type 2 [RCV003809314] Chr19:13303825 [GRCh38]
Chr19:13414639 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1779A>G (p.Thr593=) single nucleotide variant Episodic ataxia type 2 [RCV003799159] Chr19:13308418 [GRCh38]
Chr19:13419232 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3940A>G (p.Ile1314Val) single nucleotide variant Episodic ataxia type 2 [RCV003809393] Chr19:13275899 [GRCh38]
Chr19:13386713 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6233G>A (p.Ser2078Asn) single nucleotide variant Episodic ataxia type 2 [RCV003798049] Chr19:13212173 [GRCh38]
Chr19:13322987 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4755+20C>T single nucleotide variant Episodic ataxia type 2 [RCV003800242] Chr19:13255075 [GRCh38]
Chr19:13365889 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3686C>T (p.Thr1229Ile) single nucleotide variant Episodic ataxia type 2 [RCV003808361] Chr19:13285074 [GRCh38]
Chr19:13395888 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2851G>A (p.Ala951Thr) single nucleotide variant Episodic ataxia type 2 [RCV003800340] Chr19:13298782 [GRCh38]
Chr19:13409596 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4095_4096del (p.Val1365_Phe1366insTer) microsatellite Episodic ataxia type 2 [RCV003809475] Chr19:13261604..13261605 [GRCh38]
Chr19:13372418..13372419 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3693-20C>A single nucleotide variant Episodic ataxia type 2 [RCV003798160] Chr19:13283416 [GRCh38]
Chr19:13394230 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4250+13T>C single nucleotide variant Episodic ataxia type 2 [RCV003800361] Chr19:13261437 [GRCh38]
Chr19:13372251 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.949A>C (p.Met317Leu) single nucleotide variant Episodic ataxia type 2 [RCV003800368] Chr19:13359635 [GRCh38]
Chr19:13470449 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.3533dup (p.Asn1179fs) duplication Episodic ataxia type 2 [RCV003800363] Chr19:13286522..13286523 [GRCh38]
Chr19:13397336..13397337 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.470T>C (p.Phe157Ser) single nucleotide variant Episodic ataxia type 2 [RCV003808463] Chr19:13452945 [GRCh38]
Chr19:13563759 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2875C>A (p.Arg959Ser) single nucleotide variant Episodic ataxia type 2 [RCV003800498] Chr19:13298758 [GRCh38]
Chr19:13409572 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1986+14C>G single nucleotide variant Episodic ataxia type 2 [RCV003798315] Chr19:13307768 [GRCh38]
Chr19:13418582 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3488_3489delinsAA (p.Pro1163Gln) indel Episodic ataxia type 2 [RCV003799478] Chr19:13286567..13286568 [GRCh38]
Chr19:13397381..13397382 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5962C>T (p.Gln1988Ter) single nucleotide variant Episodic ataxia type 2 [RCV003799471] Chr19:13212719 [GRCh38]
Chr19:13323533 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4251A>T (p.Arg1417=) single nucleotide variant Episodic ataxia type 2 [RCV003799475] Chr19:13259701 [GRCh38]
Chr19:13370515 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3553+18C>A single nucleotide variant Episodic ataxia type 2 [RCV003799477] Chr19:13286485 [GRCh38]
Chr19:13397299 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4612A>C (p.Ile1538Leu) single nucleotide variant Episodic ataxia type 2 [RCV003800537] Chr19:13255238 [GRCh38]
Chr19:13366052 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6686C>G (p.Ala2229Gly) single nucleotide variant Episodic ataxia type 2 [RCV003800574] Chr19:13208850 [GRCh38]
Chr19:13319664 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2336G>A (p.Ser779Asn) single nucleotide variant Episodic ataxia type 2 [RCV003798436] Chr19:13299297 [GRCh38]
Chr19:13410111 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3646C>T (p.Pro1216Ser) single nucleotide variant Episodic ataxia type 2 [RCV003809787] Chr19:13285114 [GRCh38]
Chr19:13395928 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3684G>C (p.Thr1228=) single nucleotide variant Episodic ataxia type 2 [RCV003798568] Chr19:13285076 [GRCh38]
Chr19:13395890 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5328C>G (p.Ile1776Met) single nucleotide variant Episodic ataxia type 2 [RCV003798558] Chr19:13231782 [GRCh38]
Chr19:13342596 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.383C>T (p.Pro128Leu) single nucleotide variant Episodic ataxia type 2 [RCV003809869] Chr19:13455123 [GRCh38]
Chr19:13565937 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6397del (p.Arg2133fs) deletion Episodic ataxia type 2 [RCV003800757] Chr19:13209441 [GRCh38]
Chr19:13320255 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4179G>A (p.Val1393=) single nucleotide variant Episodic ataxia type 2 [RCV003800758] Chr19:13261521 [GRCh38]
Chr19:13372335 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1725C>G (p.Ser575=) single nucleotide variant Episodic ataxia type 2 [RCV003812479] Chr19:13308472 [GRCh38]
Chr19:13419286 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5529-1249G>T single nucleotide variant Episodic ataxia type 2 [RCV003808837] Chr19:13228776 [GRCh38]
Chr19:13339590 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1719C>T (p.Gly573=) single nucleotide variant Episodic ataxia type 2 [RCV003808860] Chr19:13308478 [GRCh38]
Chr19:13419292 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2810G>T (p.Gly937Val) single nucleotide variant Episodic ataxia type 2 [RCV003799726] Chr19:13298823 [GRCh38]
Chr19:13409637 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1547A>C (p.Asp516Ala) single nucleotide variant Episodic ataxia type 2 [RCV003809932] Chr19:13317120 [GRCh38]
Chr19:13427934 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6701_6711dup (p.Ala2238fs) duplication Episodic ataxia type 2 [RCV003800840] Chr19:13208824..13208825 [GRCh38]
Chr19:13319638..13319639 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4693C>G (p.Pro1565Ala) single nucleotide variant Episodic ataxia type 2 [RCV003808578] Chr19:13255157 [GRCh38]
Chr19:13365971 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4917C>T (p.Gly1639=) single nucleotide variant Episodic ataxia type 2 [RCV003799470] Chr19:13245215 [GRCh38]
Chr19:13356029 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1248del (p.Phe417fs) deletion Episodic ataxia type 2 [RCV003801120] Chr19:13332876 [GRCh38]
Chr19:13443690 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.3012G>A (p.Arg1004=) single nucleotide variant Episodic ataxia type 2 [RCV003801866] Chr19:13298621 [GRCh38]
Chr19:13409435 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2952G>C (p.Arg984=) single nucleotide variant Episodic ataxia type 2 [RCV003798425] Chr19:13298681 [GRCh38]
Chr19:13409495 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.100G>C (p.Gly34Arg) single nucleotide variant Episodic ataxia type 2 [RCV003799570] Chr19:13506125 [GRCh38]
Chr19:13616939 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4701C>T (p.Phe1567=) single nucleotide variant Episodic ataxia type 2 [RCV003797922] Chr19:13255149 [GRCh38]
Chr19:13365963 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6212_6221del (p.Gly2071fs) deletion Episodic ataxia type 2 [RCV003810154] Chr19:13212185..13212194 [GRCh38]
Chr19:13322999..13323008 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.170G>A (p.Arg57Gln) single nucleotide variant Episodic ataxia type 2 [RCV003800645] Chr19:13506055 [GRCh38]
Chr19:13616869 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.201C>A (p.Val67=) single nucleotide variant Episodic ataxia type 2 [RCV003808195] Chr19:13506024 [GRCh38]
Chr19:13616838 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3822+9C>T single nucleotide variant Episodic ataxia type 2 [RCV003808208] Chr19:13283258 [GRCh38]
Chr19:13394072 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4266C>A (p.Leu1422=) single nucleotide variant Episodic ataxia type 2 [RCV003809304] Chr19:13259686 [GRCh38]
Chr19:13370500 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1494C>T (p.Leu498=) single nucleotide variant Episodic ataxia type 2 [RCV003801721] Chr19:13317173 [GRCh38]
Chr19:13427987 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3144G>A (p.Arg1048=) single nucleotide variant Episodic ataxia type 2 [RCV003799141] Chr19:13286912 [GRCh38]
Chr19:13397726 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1435A>G (p.Ile479Val) single nucleotide variant Episodic ataxia type 2 [RCV003799643] Chr19:13317232 [GRCh38]
Chr19:13428046 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2697C>G (p.Arg899=) single nucleotide variant Episodic ataxia type 2 [RCV003800723] Chr19:13298936 [GRCh38]
Chr19:13409750 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5506G>A (p.Ala1836Thr) single nucleotide variant Episodic ataxia type 2 [RCV003817874] Chr19:13230104 [GRCh38]
Chr19:13340918 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4263C>A (p.Leu1421=) single nucleotide variant Episodic ataxia type 2 [RCV003818069] Chr19:13259689 [GRCh38]
Chr19:13370503 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4388+6T>C single nucleotide variant Episodic ataxia type 2 [RCV003812646] Chr19:13259558 [GRCh38]
Chr19:13370372 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.174_176del (p.Met59del) deletion Episodic ataxia type 2 [RCV003810445] Chr19:13506049..13506051 [GRCh38]
Chr19:13616863..13616865 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3685A>G (p.Thr1229Ala) single nucleotide variant Episodic ataxia type 2 [RCV003801409] Chr19:13285075 [GRCh38]
Chr19:13395889 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4278T>C (p.Asn1426=) single nucleotide variant Episodic ataxia type 2 [RCV003801931] Chr19:13259674 [GRCh38]
Chr19:13370488 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1857_1859dup (p.Leu620_Phe621insLeu) duplication Episodic ataxia type 2 [RCV003818072] Chr19:13308173..13308174 [GRCh38]
Chr19:13418987..13418988 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1387G>A (p.Glu463Lys) single nucleotide variant Episodic ataxia type 2 [RCV003810500] Chr19:13317280 [GRCh38]
Chr19:13428094 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3742_3744del (p.Cys1248del) deletion Episodic ataxia type 2 [RCV003817902] Chr19:13283345..13283347 [GRCh38]
Chr19:13394159..13394161 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2465C>T (p.Pro822Leu) single nucleotide variant Episodic ataxia type 2 [RCV003800881] Chr19:13299168 [GRCh38]
Chr19:13409982 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5356G>T (p.Ala1786Ser) single nucleotide variant Episodic ataxia type 2 [RCV003818089] Chr19:13231754 [GRCh38]
Chr19:13342568 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1219C>A single nucleotide variant Episodic ataxia type 2 [RCV003818090] Chr19:13228746 [GRCh38]
Chr19:13339560 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2633_2649dup (p.Ala884fs) duplication Episodic ataxia type 2 [RCV003809540] Chr19:13298983..13298984 [GRCh38]
Chr19:13409797..13409798 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5638A>C (p.Met1880Leu) single nucleotide variant Episodic ataxia type 2 [RCV003800957] Chr19:13224760 [GRCh38]
Chr19:13335574 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2140G>C (p.Asp714His) single nucleotide variant Episodic ataxia type 2 [RCV003801965] Chr19:13303578 [GRCh38]
Chr19:13414392 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.2779del (p.Asp927fs) deletion Episodic ataxia type 2 [RCV003813436] Chr19:13298854 [GRCh38]
Chr19:13409668 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.167C>G (p.Ala56Gly) single nucleotide variant Episodic ataxia type 2 [RCV003800411] Chr19:13506058 [GRCh38]
Chr19:13616872 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.835C>A (p.Arg279Ser) single nucleotide variant Episodic ataxia type 2 [RCV003818108] Chr19:13359749 [GRCh38]
Chr19:13470563 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.400-4C>T single nucleotide variant Episodic ataxia type 2 [RCV003813559] Chr19:13453019 [GRCh38]
Chr19:13563833 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4089+15T>C single nucleotide variant Episodic ataxia type 2 [RCV003798300] Chr19:13262719 [GRCh38]
Chr19:13373533 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6701A>T (p.Asp2234Val) single nucleotide variant Episodic ataxia type 2 [RCV003798845] Chr19:13208835 [GRCh38]
Chr19:13319649 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4389-28_4389-12dup duplication Episodic ataxia type 2 [RCV003798858] Chr19:13257562..13257563 [GRCh38]
Chr19:13368376..13368377 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6755G>C (p.Gly2252Ala) single nucleotide variant Episodic ataxia type 2 [RCV003817719] Chr19:13208781 [GRCh38]
Chr19:13319595 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.936C>T (p.Phe312=) single nucleotide variant Episodic ataxia type 2 [RCV003813692] Chr19:13359648 [GRCh38]
Chr19:13470462 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1556-9C>T single nucleotide variant Episodic ataxia type 2 [RCV003817748] Chr19:13312790 [GRCh38]
Chr19:13423604 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4089+19G>A single nucleotide variant Episodic ataxia type 2 [RCV003810146] Chr19:13262715 [GRCh38]
Chr19:13373529 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.632-3C>T single nucleotide variant Episodic ataxia type 2 [RCV003801586] Chr19:13365472 [GRCh38]
Chr19:13476286 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5626-12G>T single nucleotide variant Episodic ataxia type 2 [RCV003817722] Chr19:13224784 [GRCh38]
Chr19:13335598 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4998G>T (p.Arg1666=) single nucleotide variant Episodic ataxia type 2 [RCV003815207] Chr19:13235683 [GRCh38]
Chr19:13346497 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.523G>A (p.Val175Met) single nucleotide variant Episodic ataxia type 2 [RCV003808402] Chr19:13452892 [GRCh38]
Chr19:13563706 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5529-1218C>T single nucleotide variant Episodic ataxia type 2 [RCV003808663] Chr19:13228745 [GRCh38]
Chr19:13339559 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1395G>C (p.Ser465=) single nucleotide variant Episodic ataxia type 2 [RCV003798540] Chr19:13317272 [GRCh38]
Chr19:13428086 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5626-5T>C single nucleotide variant Episodic ataxia type 2 [RCV003808891] Chr19:13224777 [GRCh38]
Chr19:13335591 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4032C>G (p.Leu1344=) single nucleotide variant Episodic ataxia type 2 [RCV003808910] Chr19:13262791 [GRCh38]
Chr19:13373605 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2472G>A (p.Val824=) single nucleotide variant Episodic ataxia type 2 [RCV003798726] Chr19:13299161 [GRCh38]
Chr19:13409975 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3036G>C (p.Thr1012=) single nucleotide variant Episodic ataxia type 2 [RCV003815739] Chr19:13298597 [GRCh38]
Chr19:13409411 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6664C>T (p.Pro2222Ser) single nucleotide variant CACNA1A-related disorder [RCV003985634]|Episodic ataxia type 2 [RCV003798747] Chr19:13208872 [GRCh38]
Chr19:13319686 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2279+12T>G single nucleotide variant Episodic ataxia type 2 [RCV003817683] Chr19:13300538 [GRCh38]
Chr19:13411352 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2386G>A (p.Glu796Lys) single nucleotide variant Episodic ataxia type 2 [RCV003797911] Chr19:13299247 [GRCh38]
Chr19:13410061 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2941G>A (p.Glu981Lys) single nucleotide variant Episodic ataxia type 2 [RCV003812865] Chr19:13298692 [GRCh38]
Chr19:13409506 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.219G>A (p.Thr73=) single nucleotide variant Episodic ataxia type 2 [RCV003809685] Chr19:13506006 [GRCh38]
Chr19:13616820 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2668G>C (p.Glu890Gln) single nucleotide variant Episodic ataxia type 2 [RCV003800469] Chr19:13298965 [GRCh38]
Chr19:13409779 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6512C>T (p.Thr2171Ile) single nucleotide variant Episodic ataxia type 2 [RCV003809166] Chr19:13209326 [GRCh38]
Chr19:13320140 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1913+10T>A single nucleotide variant Episodic ataxia type 2 [RCV003808672] Chr19:13308110 [GRCh38]
Chr19:13418924 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5067+20G>C single nucleotide variant Episodic ataxia type 2 [RCV003800610] Chr19:13235594 [GRCh38]
Chr19:13346408 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4591-17T>C single nucleotide variant Episodic ataxia type 2 [RCV003808688] Chr19:13255276 [GRCh38]
Chr19:13366090 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1379C>T (p.Ala460Val) single nucleotide variant Episodic ataxia type 2 [RCV003799094] Chr19:13317288 [GRCh38]
Chr19:13428102 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2627G>A (p.Gly876Asp) single nucleotide variant Episodic ataxia type 2 [RCV003808747] Chr19:13299006 [GRCh38]
Chr19:13409820 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3823-4A>G single nucleotide variant Episodic ataxia type 2 [RCV003798594] Chr19:13277132 [GRCh38]
Chr19:13387946 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.467G>T (p.Gly156Val) single nucleotide variant Episodic ataxia type 2 [RCV003815743] Chr19:13452948 [GRCh38]
Chr19:13563762 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6189+3G>A single nucleotide variant Episodic ataxia type 2 [RCV003800216] Chr19:13212381 [GRCh38]
Chr19:13323195 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2531C>T (p.Thr844Ile) single nucleotide variant Episodic ataxia type 2 [RCV003809948] Chr19:13299102 [GRCh38]
Chr19:13409916 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2343G>A (p.Met781Ile) single nucleotide variant Episodic ataxia type 2 [RCV003798068] Chr19:13299290 [GRCh38]
Chr19:13410104 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5154C>G (p.Ile1718Met) single nucleotide variant Episodic ataxia type 2 [RCV003812902] Chr19:13235016 [GRCh38]
Chr19:13345830 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.240C>T (p.Leu80=) single nucleotide variant Episodic ataxia type 2 [RCV003798255] Chr19:13505985 [GRCh38]
Chr19:13616799 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4154T>C (p.Leu1385Pro) single nucleotide variant Episodic ataxia type 2 [RCV003799932] Chr19:13261546 [GRCh38]
Chr19:13372360 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3415A>T (p.Thr1139Ser) single nucleotide variant Episodic ataxia type 2 [RCV003798486] Chr19:13286641 [GRCh38]
Chr19:13397455 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2402dup (p.Arg802fs) duplication Episodic ataxia type 2 [RCV003815324] Chr19:13299230..13299231 [GRCh38]
Chr19:13410044..13410045 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.6303+5G>A single nucleotide variant Episodic ataxia type 2 [RCV003809333] Chr19:13212098 [GRCh38]
Chr19:13322912 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2559C>T (p.Arg853=) single nucleotide variant Episodic ataxia type 2 [RCV003798702] Chr19:13299074 [GRCh38]
Chr19:13409888 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.394C>T (p.Arg132Trp) single nucleotide variant Episodic ataxia type 2 [RCV003808345] Chr19:13455112 [GRCh38]
Chr19:13565926 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3020A>T (p.His1007Leu) single nucleotide variant Episodic ataxia type 2 [RCV003799762] Chr19:13298613 [GRCh38]
Chr19:13409427 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4078C>T (p.Pro1360Ser) single nucleotide variant Episodic ataxia type 2 [RCV003803648] Chr19:13262745 [GRCh38]
Chr19:13373559 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1054C>T (p.Leu352=) single nucleotide variant Episodic ataxia type 2 [RCV003803710] Chr19:13335834 [GRCh38]
Chr19:13446648 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6339+4T>G single nucleotide variant Episodic ataxia type 2 [RCV003803528] Chr19:13210613 [GRCh38]
Chr19:13321427 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.140T>A (p.Met47Lys) single nucleotide variant Episodic ataxia type 2 [RCV003802736] Chr19:13506085 [GRCh38]
Chr19:13616899 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4866+11C>T single nucleotide variant Episodic ataxia type 2 [RCV003802244] Chr19:13252980 [GRCh38]
Chr19:13363794 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6339+16G>A single nucleotide variant Episodic ataxia type 2 [RCV003803852] Chr19:13210601 [GRCh38]
Chr19:13321415 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3964G>A (p.Gly1322Arg) single nucleotide variant Episodic ataxia type 2 [RCV003802935] Chr19:13275875 [GRCh38]
Chr19:13386689 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5644C>T (p.Leu1882=) single nucleotide variant Episodic ataxia type 2 [RCV003802689] Chr19:13224754 [GRCh38]
Chr19:13335568 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.400-16C>T single nucleotide variant Episodic ataxia type 2 [RCV003803331] Chr19:13453031 [GRCh38]
Chr19:13563845 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.2003A>T (p.Asp668Val) single nucleotide variant Episodic ataxia type 2 [RCV003803825] Chr19:13303868 [GRCh38]
Chr19:13414682 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1593C>A (p.Ser531=) single nucleotide variant Episodic ataxia type 2 [RCV003802682] Chr19:13312744 [GRCh38]
Chr19:13423558 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3072dup (p.Arg1025fs) duplication Episodic ataxia type 2 [RCV003985948] Chr19:13298560..13298561 [GRCh38]
Chr19:13409374..13409375 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.2237C>A (p.Ala746Glu) single nucleotide variant Episodic ataxia type 2 [RCV003802482] Chr19:13300592 [GRCh38]
Chr19:13411406 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6590_6601dup (p.Gly2200_Arg2201insGlnGluArgGly) duplication Episodic ataxia type 2 [RCV003803005] Chr19:13208934..13208935 [GRCh38]
Chr19:13319748..13319749 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5068-10T>C single nucleotide variant Episodic ataxia type 2 [RCV003803085] Chr19:13235284 [GRCh38]
Chr19:13346098 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.978+12T>G single nucleotide variant Episodic ataxia type 2 [RCV003802089] Chr19:13359594 [GRCh38]
Chr19:13470408 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4590+5C>G single nucleotide variant Episodic ataxia type 2 [RCV003802104] Chr19:13257345 [GRCh38]
Chr19:13368159 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1044C>T (p.Ser348=) single nucleotide variant Episodic ataxia type 2 [RCV003803675] Chr19:13335844 [GRCh38]
Chr19:13446658 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1866G>A (p.Leu622=) single nucleotide variant Episodic ataxia type 2 [RCV003803789] Chr19:13308167 [GRCh38]
Chr19:13418981 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.436_437insG (p.Phe146fs) insertion Episodic ataxia type 2 [RCV003802489] Chr19:13452978..13452979 [GRCh38]
Chr19:13563792..13563793 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.4389-2A>C single nucleotide variant Episodic ataxia type 2 [RCV003802561] Chr19:13257553 [GRCh38]
Chr19:13368367 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.5249G>C (p.Arg1750Pro) single nucleotide variant Episodic ataxia type 2 [RCV003802836] Chr19:13234921 [GRCh38]
Chr19:13345735 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2883C>T (p.His961=) single nucleotide variant CACNA1A-related disorder [RCV003985667] Chr19:13298750 [GRCh38]
Chr19:13409564 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.5264A>G (p.Glu1755Gly) single nucleotide variant Spinocerebellar ataxia type 6 [RCV003989026] Chr19:13231846 [GRCh38]
Chr19:13342660 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.1507G>C (p.Val503Leu) single nucleotide variant not provided [RCV003993332] Chr19:13317160 [GRCh38]
Chr19:13427974 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.1191A>C (p.Ser397=) single nucleotide variant not provided [RCV003993017] Chr19:13334385 [GRCh38]
Chr19:13445199 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.3735dup (p.Glu1246Ter) duplication not provided [RCV003993464] Chr19:13283353..13283354 [GRCh38]
Chr19:13394167..13394168 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.7310C>A (p.Pro2437Gln) single nucleotide variant CACNA1A-related disorder [RCV003985651] Chr19:13207524 [GRCh38]
Chr19:13318338 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5820G>A (p.Leu1940=) single nucleotide variant not specified [RCV003994996] Chr19:13214520 [GRCh38]
Chr19:13325334 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1198+8C>T single nucleotide variant not provided [RCV003887218] Chr19:13334370 [GRCh38]
Chr19:13445184 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.7301A>G (p.Tyr2434Cys) single nucleotide variant not provided [RCV003884137] Chr19:13207533 [GRCh38]
Chr19:13318347 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2484G>C (p.Gln828His) single nucleotide variant not provided [RCV003993317] Chr19:13299149 [GRCh38]
Chr19:13409963 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3091_3094del microsatellite Episodic ataxia type 2 [RCV003989467] Chr19:13286962..13286965 [GRCh38]
Chr19:13397776..13397779 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001127222.2(CACNA1A):c.7257T>C (p.Asp2419=) single nucleotide variant CACNA1A-related disorder [RCV003985653] Chr19:13207577 [GRCh38]
Chr19:13318391 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.7251G>A (p.Glu2417=) single nucleotide variant CACNA1A-related disorder [RCV003985654] Chr19:13207583 [GRCh38]
Chr19:13318397 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.1362A>T (p.Arg454=) single nucleotide variant CACNA1A-related disorder [RCV003985655] Chr19:13317305 [GRCh38]
Chr19:13428119 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.7440C>T (p.His2480=) single nucleotide variant CACNA1A-related disorder [RCV003985658] Chr19:13207394 [GRCh38]
Chr19:13318208 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.7293C>A (p.Ala2431=) single nucleotide variant CACNA1A-related disorder [RCV003985659] Chr19:13207541 [GRCh38]
Chr19:13318355 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4827T>G (p.Ser1609=) single nucleotide variant CACNA1A-related disorder [RCV003985660] Chr19:13253030 [GRCh38]
Chr19:13363844 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6696G>T (p.Arg2232=) single nucleotide variant CACNA1A-related disorder [RCV003985661] Chr19:13208840 [GRCh38]
Chr19:13319654 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.6962A>G (p.Gln2321Arg) single nucleotide variant CACNA1A-related disorder [RCV003985675] Chr19:13207872 [GRCh38]
Chr19:13318686 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.4470C>A (p.Tyr1490Ter) single nucleotide variant CACNA1A-related disorder [RCV003985676] Chr19:13257470 [GRCh38]
Chr19:13368284 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6025A>C (p.Thr2009Pro) single nucleotide variant CACNA1A-related disorder [RCV003985642] Chr19:13212656 [GRCh38]
Chr19:13323470 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.5406G>A (p.Leu1802=) single nucleotide variant CACNA1A-related disorder [RCV003985647] Chr19:13230204 [GRCh38]
Chr19:13341018 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4247G>T (p.Cys1416Phe) single nucleotide variant not provided [RCV003887336] Chr19:13261453 [GRCh38]
Chr19:13372267 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6937CAG[18] (p.Gln2325_Ala2326insGlnGlnGlnGlnGln) microsatellite CACNA1A-related disorder [RCV003985640]|not provided [RCV003885074] Chr19:13207858..13207859 [GRCh38]
Chr19:13318672..13318673 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4115C>T (p.Ser1372Leu) single nucleotide variant Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003985148] Chr19:13261585 [GRCh38]
Chr19:13372399 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001127222.2(CACNA1A):c.6128G>T (p.Gly2043Val) single nucleotide variant Episodic ataxia type 2 [RCV003985137] Chr19:13212445 [GRCh38]
Chr19:13323259 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3789G>A (p.Glu1263=) single nucleotide variant CACNA1A-related disorder [RCV003985652] Chr19:13283300 [GRCh38]
Chr19:13394114 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001127222.2(CACNA1A):c.4956C>T (p.Asn1652=) single nucleotide variant not provided [RCV003887566] Chr19:13235725 [GRCh38]
Chr19:13346539 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.6778C>T (p.Gln2260Ter) single nucleotide variant not provided [RCV003887641] Chr19:13208758 [GRCh38]
Chr19:13319572 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2645C>T (p.Pro882Leu) single nucleotide variant Inborn genetic diseases [RCV004432166] Chr19:13298988 [GRCh38]
Chr19:13409802 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.2385C>G (p.Asn795Lys) single nucleotide variant Inborn genetic diseases [RCV004432165] Chr19:13299248 [GRCh38]
Chr19:13410062 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.748G>A (p.Gly250Arg) single nucleotide variant Inborn genetic diseases [RCV004432171] Chr19:13365353 [GRCh38]
Chr19:13476167 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001127222.2(CACNA1A):c.3143G>A (p.Arg1048Gln) single nucleotide variant Inborn genetic diseases [RCV004432167] Chr19:13286913 [GRCh38]
Chr19:13397727 [GRCh37]
Chr19:19p13.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3946
Count of miRNA genes:1057
Interacting mature miRNAs:1327
Transcripts:ENST00000360228, ENST00000573710, ENST00000573891, ENST00000574822, ENST00000574974, ENST00000585802, ENST00000586190, ENST00000587451, ENST00000587525, ENST00000590205, ENST00000592864, ENST00000593160, ENST00000593267
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
D19S564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,524,659 - 13,524,820UniSTSGRCh37
Build 361913,385,659 - 13,385,820RGDNCBI36
Celera1913,415,209 - 13,415,350RGD
Cytogenetic Map19p13UniSTS
HuRef1913,096,612 - 13,096,753UniSTS
Marshfield Genetic Map1937.94UniSTS
Marshfield Genetic Map1937.94RGD
SHGC-83991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,480,089 - 13,480,300UniSTSGRCh37
Build 361913,341,089 - 13,341,300RGDNCBI36
Celera1913,370,650 - 13,370,861RGD
Cytogenetic Map19p13UniSTS
HuRef1913,052,412 - 13,052,623UniSTS
TNG Radiation Hybrid Map194608.0UniSTS
G59885  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,461,358 - 13,461,457UniSTSGRCh37
Build 361913,322,358 - 13,322,457RGDNCBI36
Celera1913,351,938 - 13,352,037RGD
Cytogenetic Map19p13UniSTS
HuRef1913,033,701 - 13,033,800UniSTS
TNG Radiation Hybrid Map194613.0UniSTS
G49219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,504,352 - 13,504,689UniSTSGRCh37
Build 361913,365,352 - 13,365,689RGDNCBI36
Celera1913,394,907 - 13,395,244RGD
Cytogenetic Map19p13UniSTS
G49217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,520,121 - 13,520,308UniSTSGRCh37
Build 361913,381,121 - 13,381,308RGDNCBI36
Celera1913,410,675 - 13,410,862RGD
Cytogenetic Map19p13UniSTS
HuRef1913,092,146 - 13,092,333UniSTS
RH48188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,461,342 - 13,461,479UniSTSGRCh37
Build 361913,322,342 - 13,322,479RGDNCBI36
Celera1913,351,922 - 13,352,059RGD
Cytogenetic Map19p13UniSTS
HuRef1913,033,685 - 13,033,822UniSTS
GeneMap99-GB4 RH Map1973.38UniSTS
D19S1150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,445,310 - 13,445,467UniSTSGRCh37
Build 361913,306,310 - 13,306,467RGDNCBI36
Celera1913,335,887 - 13,336,044RGD
HuRef1913,017,657 - 13,017,806UniSTS
G54381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,446,562 - 13,446,837UniSTSGRCh37
Celera1913,337,139 - 13,337,414UniSTS
Cytogenetic Map19p13UniSTS
HuRef1913,018,902 - 13,019,177UniSTS
G54389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,418,523 - 13,418,756UniSTSGRCh37
Celera1913,309,025 - 13,309,258UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,990,763 - 12,990,996UniSTS
G54397  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,395,819 - 13,396,073UniSTSGRCh37
Celera1913,286,319 - 13,286,573UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,968,055 - 12,968,309UniSTS
G54405  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13UniSTS
HuRef1912,938,172 - 12,938,445UniSTS
G54413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,339,463 - 13,339,657UniSTSGRCh37
Celera1913,229,940 - 13,230,134UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,911,926 - 12,912,120UniSTS
G54374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,616,850 - 13,617,170UniSTSGRCh37
Celera1913,507,348 - 13,507,668UniSTS
Cytogenetic Map19p13UniSTS
HuRef1913,188,747 - 13,189,067UniSTS
G54375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,616,569 - 13,616,970UniSTSGRCh37
Celera1913,507,067 - 13,507,468UniSTS
Cytogenetic Map19p13UniSTS
HuRef1913,188,466 - 13,188,867UniSTS
G54376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,565,841 - 13,566,081UniSTSGRCh37
Celera1913,456,373 - 13,456,613UniSTS
Cytogenetic Map19p13UniSTS
HuRef1913,137,783 - 13,138,023UniSTS
G54377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,563,627 - 13,563,858UniSTSGRCh37
Celera1913,454,159 - 13,454,390UniSTS
Cytogenetic Map19p13UniSTS
HuRef1913,135,567 - 13,135,798UniSTS
G54378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,482,477 - 13,482,635UniSTSGRCh37
Celera1913,373,038 - 13,373,196UniSTS
Cytogenetic Map19p13UniSTS
HuRef1913,054,800 - 13,054,958UniSTS
G54379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,476,059 - 13,476,385UniSTSGRCh37
Celera1913,366,627 - 13,366,953UniSTS
Cytogenetic Map19p13UniSTS
HuRef1913,048,389 - 13,048,715UniSTS
G54380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,470,285 - 13,470,630UniSTSGRCh37
Celera1913,360,855 - 13,361,200UniSTS
Cytogenetic Map19p13UniSTS
HuRef1913,042,618 - 13,042,963UniSTS
G54382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,445,126 - 13,445,331UniSTSGRCh37
Celera1913,335,703 - 13,335,908UniSTS
Cytogenetic Map19p13UniSTS
HuRef1913,017,473 - 13,017,678UniSTS
G54383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,443,659 - 13,443,846UniSTSGRCh37
Celera1913,334,236 - 13,334,423UniSTS
Cytogenetic Map19p13UniSTS
HuRef1913,016,006 - 13,016,193UniSTS
G54384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,441,006 - 13,441,182UniSTSGRCh37
Celera1913,331,583 - 13,331,759UniSTS
Cytogenetic Map19p13UniSTS
HuRef1913,013,353 - 13,013,529UniSTS
G54385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,427,881 - 13,428,201UniSTSGRCh37
Celera1913,318,383 - 13,318,703UniSTS
Cytogenetic Map19p13UniSTS
HuRef1913,000,115 - 13,000,435UniSTS
G54386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,423,419 - 13,423,637UniSTSGRCh37
Celera1913,313,921 - 13,314,139UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,995,653 - 12,995,871UniSTS
G54387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,419,141 - 13,419,446UniSTSGRCh37
Celera1913,309,643 - 13,309,948UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,991,381 - 12,991,686UniSTS
G54388  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,418,911 - 13,419,162UniSTSGRCh37
Celera1913,309,413 - 13,309,664UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,991,151 - 12,991,402UniSTS
G54390  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,414,431 - 13,414,731UniSTSGRCh37
Celera1913,304,933 - 13,305,233UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,986,671 - 12,986,971UniSTS
G54391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,414,339 - 13,414,571UniSTSGRCh37
Celera1913,304,841 - 13,305,073UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,986,579 - 12,986,811UniSTS
G54392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,411,325 - 13,411,532UniSTSGRCh37
Celera1913,301,827 - 13,302,034UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,983,564 - 12,983,771UniSTS
G54393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,409,935 - 13,410,223UniSTSGRCh37
Celera1913,300,437 - 13,300,725UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,982,174 - 12,982,462UniSTS
G54394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,409,616 - 13,409,955UniSTSGRCh37
Celera1913,300,118 - 13,300,457UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,981,855 - 12,982,194UniSTS
G54395  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,409,333 - 13,409,633UniSTSGRCh37
Celera1913,299,835 - 13,300,135UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,981,572 - 12,981,872UniSTS
G54398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,394,052 - 13,394,296UniSTSGRCh37
Celera1913,284,552 - 13,284,796UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,966,288 - 12,966,532UniSTS
G54401  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,373,454 - 13,373,710UniSTSGRCh37
Celera1913,263,950 - 13,264,206UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,945,772 - 12,946,028UniSTS
G54403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,370,317 - 13,370,655UniSTSGRCh37
Celera1913,260,813 - 13,261,151UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,942,633 - 12,942,971UniSTS
G54404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,368,111 - 13,368,439UniSTSGRCh37
Celera1913,258,603 - 13,258,931UniSTS
Cytogenetic Map19p13UniSTS
G54406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,363,730 - 13,363,954UniSTSGRCh37
Celera1913,254,223 - 13,254,447UniSTS
Cytogenetic Map19p13UniSTS
G54407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,355,852 - 13,356,184UniSTSGRCh37
Celera1913,246,339 - 13,246,671UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,928,316 - 12,928,648UniSTS
G54408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,346,378 - 13,346,643UniSTSGRCh37
Celera1913,236,856 - 13,237,121UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,918,844 - 12,919,109UniSTS
G54409  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,345,988 - 13,346,214UniSTSGRCh37
Celera1913,236,466 - 13,236,692UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,918,454 - 12,918,680UniSTS
G54410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,345,709 - 13,345,961UniSTSGRCh37
Celera1913,236,187 - 13,236,439UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,918,175 - 12,918,427UniSTS
G54411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,342,481 - 13,342,707UniSTSGRCh37
Celera1913,232,959 - 13,233,185UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,914,944 - 12,915,170UniSTS
G54412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,340,738 - 13,341,087UniSTSGRCh37
Celera1913,231,215 - 13,231,564UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,913,200 - 12,913,549UniSTS
G54414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,338,197 - 13,338,441UniSTSGRCh37
Celera1913,228,677 - 13,228,921UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,910,663 - 12,910,907UniSTS
G54415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,335,435 - 13,335,628UniSTSGRCh37
Celera1913,225,920 - 13,226,113UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,907,906 - 12,908,099UniSTS
G54416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,325,223 - 13,325,512UniSTSGRCh37
Celera1913,215,595 - 13,215,884UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,897,578 - 12,897,867UniSTS
G54417  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,324,969 - 13,325,185UniSTSGRCh37
Celera1913,215,341 - 13,215,557UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,897,324 - 12,897,540UniSTS
G54418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,323,409 - 13,323,586UniSTSGRCh37
Celera1913,213,780 - 13,213,957UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,895,763 - 12,895,940UniSTS
G54419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,323,137 - 13,323,442UniSTSGRCh37
Celera1913,213,508 - 13,213,813UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,895,491 - 12,895,796UniSTS
G54420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,322,861 - 13,323,183UniSTSGRCh37
Celera1913,213,232 - 13,213,554UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,895,215 - 12,895,537UniSTS
G54422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,319,510 - 13,319,853UniSTSGRCh37
Celera1913,209,882 - 13,210,225UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,891,865 - 12,892,208UniSTS
G54423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,318,541 - 13,318,958UniSTSGRCh37
Celera1913,208,913 - 13,209,330UniSTS
Cytogenetic Map19p13UniSTS
G54424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,318,129 - 13,318,638UniSTSGRCh37
Celera1913,208,501 - 13,209,010UniSTS
Cytogenetic Map19p13UniSTS
HuRef1912,890,496 - 12,891,005UniSTS


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 2 15 6 51 9 1745 3 26 58 48
Low 1136 995 974 23 566 16 2207 305 1935 77 1014 709 12 1 1104 1323
Below cutoff 1240 1979 643 509 1311 356 2072 1867 32 287 370 774 158 100 1417 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001174080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_023035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB035726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB035727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC124224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF004883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF004884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF144098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF152345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ340521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU016197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ040507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U06702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U79663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U79664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U79665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U79666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U79667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U79668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000360228   ⟹   ENSP00000353362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,206,442 - 13,506,479 (-)Ensembl
RefSeq Acc Id: ENST00000573710   ⟹   ENSP00000460092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,207,302 - 13,506,255 (-)Ensembl
RefSeq Acc Id: ENST00000573891   ⟹   ENSP00000460276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,230,133 - 13,255,098 (-)Ensembl
RefSeq Acc Id: ENST00000574822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,229,062 - 13,253,080 (-)Ensembl
RefSeq Acc Id: ENST00000574974   ⟹   ENSP00000459963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,371,761 - 13,633,025 (-)Ensembl
RefSeq Acc Id: ENST00000585802   ⟹   ENSP00000465598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,207,266 - 13,253,011 (-)Ensembl
RefSeq Acc Id: ENST00000586190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,214,440 - 13,224,956 (-)Ensembl
RefSeq Acc Id: ENST00000587451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,518,975 - 13,520,309 (-)Ensembl
RefSeq Acc Id: ENST00000587525   ⟹   ENSP00000467729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,206,494 - 13,257,400 (-)Ensembl
RefSeq Acc Id: ENST00000590205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,259,366 - 13,262,705 (-)Ensembl
RefSeq Acc Id: ENST00000592864   ⟹   ENSP00000464729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,518,797 - 13,624,489 (-)Ensembl
RefSeq Acc Id: ENST00000593160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,333,640 - 13,505,939 (-)Ensembl
RefSeq Acc Id: ENST00000593267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,234,808 - 13,235,885 (-)Ensembl
RefSeq Acc Id: ENST00000614285   ⟹   ENSP00000479983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,206,442 - 13,506,224 (-)Ensembl
RefSeq Acc Id: ENST00000635727   ⟹   ENSP00000490001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,207,301 - 13,506,224 (-)Ensembl
RefSeq Acc Id: ENST00000635742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,229,689 - 13,262,811 (-)Ensembl
RefSeq Acc Id: ENST00000635786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,273,498 - 13,286,554 (-)Ensembl
RefSeq Acc Id: ENST00000635895   ⟹   ENSP00000490323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,206,446 - 13,506,495 (-)Ensembl
RefSeq Acc Id: ENST00000635917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,252,517 - 13,286,547 (-)Ensembl
RefSeq Acc Id: ENST00000635988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,213,783 - 13,226,555 (-)Ensembl
RefSeq Acc Id: ENST00000636012   ⟹   ENSP00000490223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,207,301 - 13,506,224 (-)Ensembl
RefSeq Acc Id: ENST00000636022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,312,652 - 13,334,436 (-)Ensembl
RefSeq Acc Id: ENST00000636058   ⟹   ENSP00000490075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,231,769 - 13,252,995 (-)Ensembl
RefSeq Acc Id: ENST00000636074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,213,719 - 13,215,234 (-)Ensembl
RefSeq Acc Id: ENST00000636389   ⟹   ENSP00000489992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,206,740 - 13,506,272 (-)Ensembl
RefSeq Acc Id: ENST00000636473   ⟹   ENSP00000490173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,208,046 - 13,253,011 (-)Ensembl
RefSeq Acc Id: ENST00000636549   ⟹   ENSP00000490578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,208,046 - 13,506,224 (-)Ensembl
RefSeq Acc Id: ENST00000636610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,208,892 - 13,225,314 (-)Ensembl
RefSeq Acc Id: ENST00000636670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,226,943 - 13,227,682 (-)Ensembl
RefSeq Acc Id: ENST00000636768   ⟹   ENSP00000490190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,208,996 - 13,231,736 (-)Ensembl
RefSeq Acc Id: ENST00000636816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,252,567 - 13,263,510 (-)Ensembl
RefSeq Acc Id: ENST00000636966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,362,051 - 13,506,112 (-)Ensembl
RefSeq Acc Id: ENST00000636974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,307,347 - 13,365,459 (-)Ensembl
RefSeq Acc Id: ENST00000636984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,256,255 - 13,260,234 (-)Ensembl
RefSeq Acc Id: ENST00000637004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,243,769 - 13,286,521 (-)Ensembl
RefSeq Acc Id: ENST00000637117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,307,279 - 13,308,831 (-)Ensembl
RefSeq Acc Id: ENST00000637168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,256,188 - 13,259,166 (-)Ensembl
RefSeq Acc Id: ENST00000637276   ⟹   ENSP00000489777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,207,661 - 13,506,224 (-)Ensembl
RefSeq Acc Id: ENST00000637297   ⟹   ENSP00000489692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,231,769 - 13,259,607 (-)Ensembl
RefSeq Acc Id: ENST00000637432   ⟹   ENSP00000490617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,207,274 - 13,506,460 (-)Ensembl
RefSeq Acc Id: ENST00000637475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,243,671 - 13,245,645 (-)Ensembl
RefSeq Acc Id: ENST00000637485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,271,341 - 13,277,933 (-)Ensembl
RefSeq Acc Id: ENST00000637616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,450,342 - 13,506,232 (-)Ensembl
RefSeq Acc Id: ENST00000637625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,315,238 - 13,317,127 (-)Ensembl
RefSeq Acc Id: ENST00000637692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,245,209 - 13,263,144 (-)Ensembl
RefSeq Acc Id: ENST00000637736   ⟹   ENSP00000489861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,206,591 - 13,506,459 (-)Ensembl
RefSeq Acc Id: ENST00000637769   ⟹   ENSP00000489778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,206,445 - 13,506,480 (-)Ensembl
RefSeq Acc Id: ENST00000637774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,273,938 - 13,284,568 (-)Ensembl
RefSeq Acc Id: ENST00000637777   ⟹   ENSP00000490475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,228,790 - 13,245,215 (-)Ensembl
RefSeq Acc Id: ENST00000637809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,230,132 - 13,245,518 (-)Ensembl
RefSeq Acc Id: ENST00000637819   ⟹   ENSP00000490686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,212,707 - 13,255,247 (-)Ensembl
RefSeq Acc Id: ENST00000637832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,228,617 - 13,235,674 (-)Ensembl
RefSeq Acc Id: ENST00000637927   ⟹   ENSP00000489715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,208,019 - 13,506,255 (-)Ensembl
RefSeq Acc Id: ENST00000637952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,362,405 - 13,366,298 (-)Ensembl
RefSeq Acc Id: ENST00000637966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,306,564 - 13,506,077 (-)Ensembl
RefSeq Acc Id: ENST00000637981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,370,791 - 13,506,042 (-)Ensembl
RefSeq Acc Id: ENST00000638009   ⟹   ENSP00000489913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,206,442 - 13,506,479 (-)Ensembl
RefSeq Acc Id: ENST00000638029   ⟹   ENSP00000489829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,207,274 - 13,506,460 (-)Ensembl
RefSeq Acc Id: ENST00000638114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,213,868 - 13,214,551 (-)Ensembl
RefSeq Acc Id: ENST00000664864   ⟹   ENSP00000499449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1913,208,046 - 13,599,946 (-)Ensembl
RefSeq Acc Id: NM_000068   ⟹   NP_000059
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,206,442 - 13,506,479 (-)NCBI
GRCh371913,317,256 - 13,617,274 (-)ENTREZGENE
Build 361913,178,256 - 13,478,274 (-)NCBI Archive
HuRef1912,889,634 - 13,189,171 (-)ENTREZGENE
CHM1_11913,318,256 - 13,618,198 (-)NCBI
T2T-CHM13v2.01913,331,719 - 13,631,840 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001127221   ⟹   NP_001120693
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,206,442 - 13,506,479 (-)NCBI
GRCh371913,317,256 - 13,617,274 (-)ENTREZGENE
HuRef1912,889,634 - 13,189,171 (-)ENTREZGENE
CHM1_11913,318,256 - 13,618,198 (-)NCBI
T2T-CHM13v2.01913,331,719 - 13,631,840 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001127222   ⟹   NP_001120694
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,206,442 - 13,506,479 (-)NCBI
GRCh371913,317,256 - 13,617,274 (-)ENTREZGENE
HuRef1912,889,634 - 13,189,171 (-)ENTREZGENE
CHM1_11913,318,256 - 13,618,198 (-)NCBI
T2T-CHM13v2.01913,331,719 - 13,631,840 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001174080   ⟹   NP_001167551
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,206,442 - 13,506,479 (-)NCBI
GRCh371913,317,256 - 13,617,274 (-)ENTREZGENE
HuRef1912,889,634 - 13,189,171 (-)ENTREZGENE
CHM1_11913,318,256 - 13,618,198 (-)NCBI
T2T-CHM13v2.01913,331,719 - 13,631,840 (-)NCBI
Sequence:
RefSeq Acc Id: NM_023035   ⟹   NP_075461
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,206,442 - 13,506,479 (-)NCBI
GRCh371913,317,256 - 13,617,274 (-)ENTREZGENE
Build 361913,178,256 - 13,478,274 (-)NCBI Archive
HuRef1912,889,634 - 13,189,171 (-)ENTREZGENE
CHM1_11913,318,256 - 13,618,198 (-)NCBI
T2T-CHM13v2.01913,331,719 - 13,631,840 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000059 (Get FASTA)   NCBI Sequence Viewer  
  NP_001120693 (Get FASTA)   NCBI Sequence Viewer  
  NP_001120694 (Get FASTA)   NCBI Sequence Viewer  
  NP_001167551 (Get FASTA)   NCBI Sequence Viewer  
  NP_075461 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB33068 (Get FASTA)   NCBI Sequence Viewer  
  AAB49674 (Get FASTA)   NCBI Sequence Viewer  
  AAB49675 (Get FASTA)   NCBI Sequence Viewer  
  AAB49676 (Get FASTA)   NCBI Sequence Viewer  
  AAB49677 (Get FASTA)   NCBI Sequence Viewer  
  AAB49678 (Get FASTA)   NCBI Sequence Viewer  
  AAB61612 (Get FASTA)   NCBI Sequence Viewer  
  AAB61613 (Get FASTA)   NCBI Sequence Viewer  
  AAB64179 (Get FASTA)   NCBI Sequence Viewer  
  AAC26839 (Get FASTA)   NCBI Sequence Viewer  
  AAC77460 (Get FASTA)   NCBI Sequence Viewer  
  AAD38386 (Get FASTA)   NCBI Sequence Viewer  
  AAF03935 (Get FASTA)   NCBI Sequence Viewer  
  ABV80232 (Get FASTA)   NCBI Sequence Viewer  
  ACH89974 (Get FASTA)   NCBI Sequence Viewer  
  BAA94765 (Get FASTA)   NCBI Sequence Viewer  
  BAA94766 (Get FASTA)   NCBI Sequence Viewer  
  CAA68172 (Get FASTA)   NCBI Sequence Viewer  
  EAW84361 (Get FASTA)   NCBI Sequence Viewer  
  EAW84362 (Get FASTA)   NCBI Sequence Viewer  
  EAW84363 (Get FASTA)   NCBI Sequence Viewer  
  EAW84364 (Get FASTA)   NCBI Sequence Viewer  
  EAW84365 (Get FASTA)   NCBI Sequence Viewer  
  EAW84366 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000353362
  ENSP00000353362.5
  ENSP00000459963.2
  ENSP00000460092.3
  ENSP00000460276.1
  ENSP00000464729.2
  ENSP00000465598.2
  ENSP00000467729.1
  ENSP00000489692.1
  ENSP00000489715.1
  ENSP00000489777.1
  ENSP00000489778.1
  ENSP00000489829
  ENSP00000489829.1
  ENSP00000489861.1
  ENSP00000489913
  ENSP00000489913.1
  ENSP00000489992.1
  ENSP00000490001.1
  ENSP00000490075.1
  ENSP00000490173.1
  ENSP00000490190.1
  ENSP00000490223.1
  ENSP00000490323.1
  ENSP00000490475.1
  ENSP00000490578
  ENSP00000490578.1
  ENSP00000490617
  ENSP00000490617.1
  ENSP00000490686.1
  ENSP00000499449.1
GenBank Protein O00555 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001120694   ⟸   NM_001127222
- Peptide Label: isoform 4
- UniProtKB: Q9NS88 (UniProtKB/Swiss-Prot),   Q99793 (UniProtKB/Swiss-Prot),   Q99792 (UniProtKB/Swiss-Prot),   Q99791 (UniProtKB/Swiss-Prot),   Q99790 (UniProtKB/Swiss-Prot),   Q92690 (UniProtKB/Swiss-Prot),   Q16290 (UniProtKB/Swiss-Prot),   P78511 (UniProtKB/Swiss-Prot),   P78510 (UniProtKB/Swiss-Prot),   J3KP41 (UniProtKB/Swiss-Prot),   Q9UDC4 (UniProtKB/Swiss-Prot),   O00555 (UniProtKB/Swiss-Prot),   A0A1B0GU81 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001120693   ⟸   NM_001127221
- Peptide Label: isoform 3
- UniProtKB: A0A1B0GTI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001167551   ⟸   NM_001174080
- Peptide Label: isoform 5
- UniProtKB: B5TYJ1 (UniProtKB/TrEMBL),   A0A384DVW2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000059   ⟸   NM_000068
- Peptide Label: isoform 1
- UniProtKB: A0A384DVW2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_075461   ⟸   NM_023035
- Peptide Label: isoform 2
- UniProtKB: A0A087WW63 (UniProtKB/TrEMBL),   A0A1B0GU81 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000490001   ⟸   ENST00000635727
RefSeq Acc Id: ENSP00000490323   ⟸   ENST00000635895
RefSeq Acc Id: ENSP00000490075   ⟸   ENST00000636058
RefSeq Acc Id: ENSP00000490223   ⟸   ENST00000636012
RefSeq Acc Id: ENSP00000490578   ⟸   ENST00000636549
RefSeq Acc Id: ENSP00000490173   ⟸   ENST00000636473
RefSeq Acc Id: ENSP00000489992   ⟸   ENST00000636389
RefSeq Acc Id: ENSP00000490190   ⟸   ENST00000636768
RefSeq Acc Id: ENSP00000490617   ⟸   ENST00000637432
RefSeq Acc Id: ENSP00000489777   ⟸   ENST00000637276
RefSeq Acc Id: ENSP00000489692   ⟸   ENST00000637297
RefSeq Acc Id: ENSP00000489715   ⟸   ENST00000637927
RefSeq Acc Id: ENSP00000490686   ⟸   ENST00000637819
RefSeq Acc Id: ENSP00000489861   ⟸   ENST00000637736
RefSeq Acc Id: ENSP00000490475   ⟸   ENST00000637777
RefSeq Acc Id: ENSP00000489778   ⟸   ENST00000637769
RefSeq Acc Id: ENSP00000353362   ⟸   ENST00000360228
RefSeq Acc Id: ENSP00000489913   ⟸   ENST00000638009
RefSeq Acc Id: ENSP00000489829   ⟸   ENST00000638029
RefSeq Acc Id: ENSP00000465598   ⟸   ENST00000585802
RefSeq Acc Id: ENSP00000499449   ⟸   ENST00000664864
RefSeq Acc Id: ENSP00000460276   ⟸   ENST00000573891
RefSeq Acc Id: ENSP00000460092   ⟸   ENST00000573710
RefSeq Acc Id: ENSP00000467729   ⟸   ENST00000587525
RefSeq Acc Id: ENSP00000459963   ⟸   ENST00000574974
RefSeq Acc Id: ENSP00000479983   ⟸   ENST00000614285
RefSeq Acc Id: ENSP00000464729   ⟸   ENST00000592864
Protein Domains
Ion transport   Voltage-dependent calcium channel alpha-1 subunit   Voltage-dependent L-type calcium channel IQ-

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00555-F1-model_v2 AlphaFold O00555 1-2506 view protein structure

Promoters
RGD ID:6795231
Promoter ID:HG_KWN:29060
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000104062,   UC002MWX.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361913,247,141 - 13,247,641 (-)MPROMDB
RGD ID:7238789
Promoter ID:EPDNEW_H25141
Type:initiation region
Name:CACNA1A_1
Description:calcium voltage-gated channel subunit alpha1 A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,506,551 - 13,506,611EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1388 AgrOrtholog
COSMIC CACNA1A COSMIC
Ensembl Genes ENSG00000141837 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000360228 ENTREZGENE
  ENST00000360228.11 UniProtKB/Swiss-Prot
  ENST00000573710.7 UniProtKB/TrEMBL
  ENST00000573891.6 UniProtKB/TrEMBL
  ENST00000574974.3 UniProtKB/TrEMBL
  ENST00000585802.6 UniProtKB/TrEMBL
  ENST00000587525.5 UniProtKB/TrEMBL
  ENST00000592864.3 UniProtKB/TrEMBL
  ENST00000635727.1 UniProtKB/TrEMBL
  ENST00000635895.1 UniProtKB/TrEMBL
  ENST00000636012.1 UniProtKB/TrEMBL
  ENST00000636058.1 UniProtKB/TrEMBL
  ENST00000636389.1 UniProtKB/TrEMBL
  ENST00000636473.1 UniProtKB/TrEMBL
  ENST00000636549 ENTREZGENE
  ENST00000636549.1 UniProtKB/TrEMBL
  ENST00000636768.1 UniProtKB/TrEMBL
  ENST00000637276.1 UniProtKB/Swiss-Prot
  ENST00000637297.1 UniProtKB/TrEMBL
  ENST00000637432 ENTREZGENE
  ENST00000637432.1 UniProtKB/Swiss-Prot
  ENST00000637736.1 UniProtKB/TrEMBL
  ENST00000637769.1 UniProtKB/TrEMBL
  ENST00000637777.1 UniProtKB/TrEMBL
  ENST00000637819.1 UniProtKB/TrEMBL
  ENST00000637927.1 UniProtKB/TrEMBL
  ENST00000638009 ENTREZGENE
  ENST00000638009.2 UniProtKB/Swiss-Prot
  ENST00000638029 ENTREZGENE
  ENST00000638029.1 UniProtKB/TrEMBL
  ENST00000664864.1 UniProtKB/TrEMBL
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
  EF-hand UniProtKB/TrEMBL
GTEx ENSG00000141837 GTEx
HGNC ID HGNC:1388 ENTREZGENE
Human Proteome Map CACNA1A Human Proteome Map
InterPro CACNA1A 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
  VDCCAlpha1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:773 UniProtKB/Swiss-Prot
NCBI Gene 773 ENTREZGENE
OMIM 601011 OMIM
PANTHER VOLTAGE-DEPENDENT CALCIUM CHANNEL TYPE A SUBUNIT ALPHA-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VOLTAGE-DEPENDENT P/Q-TYPE CALCIUM CHANNEL SUBUNIT ALPHA-1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ca_chan_IQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPHH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26007 PharmGKB
PRINTS CACHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PQVDCCALPHA1 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 A0A087WW63 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GTG6_HUMAN UniProtKB/TrEMBL
  A0A1B0GTI4 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GTN7_HUMAN UniProtKB/TrEMBL
  A0A1B0GTW2_HUMAN UniProtKB/TrEMBL
  A0A1B0GU74_HUMAN UniProtKB/TrEMBL
  A0A1B0GU81 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GUE5_HUMAN UniProtKB/TrEMBL
  A0A1B0GUM7_HUMAN UniProtKB/TrEMBL
  A0A1B0GUP3_HUMAN UniProtKB/TrEMBL
  A0A1B0GUS3_HUMAN UniProtKB/TrEMBL
  A0A1B0GVD8_HUMAN UniProtKB/TrEMBL
  A0A1B0GVX1_HUMAN UniProtKB/TrEMBL
  A0A1C7CYY9_HUMAN UniProtKB/TrEMBL
  A0A384DVW2 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJK2_HUMAN UniProtKB/TrEMBL
  B3SZS3_HUMAN UniProtKB/TrEMBL
  B5TYJ1 ENTREZGENE, UniProtKB/TrEMBL
  CAC1A_HUMAN UniProtKB/Swiss-Prot
  I3L2V5_HUMAN UniProtKB/TrEMBL
  I3L391_HUMAN UniProtKB/TrEMBL
  J3KP41 ENTREZGENE
  K7EIF8_HUMAN UniProtKB/TrEMBL
  K7EKF7_HUMAN UniProtKB/TrEMBL
  K7EQ95_HUMAN UniProtKB/TrEMBL
  O00555 ENTREZGENE
  O95387_HUMAN UniProtKB/TrEMBL
  P78510 ENTREZGENE
  P78511 ENTREZGENE
  Q16290 ENTREZGENE
  Q92690 ENTREZGENE
  Q99790 ENTREZGENE
  Q99791 ENTREZGENE
  Q99792 ENTREZGENE
  Q99793 ENTREZGENE
  Q9NS88 ENTREZGENE
  Q9NS89_HUMAN UniProtKB/TrEMBL
  Q9UDC4 ENTREZGENE
  Q9UHM9_HUMAN UniProtKB/TrEMBL
  Q9UN69_HUMAN UniProtKB/TrEMBL
UniProt Secondary J3KP41 UniProtKB/Swiss-Prot
  P78510 UniProtKB/Swiss-Prot
  P78511 UniProtKB/Swiss-Prot
  Q16290 UniProtKB/Swiss-Prot
  Q92690 UniProtKB/Swiss-Prot
  Q99790 UniProtKB/Swiss-Prot
  Q99791 UniProtKB/Swiss-Prot
  Q99792 UniProtKB/Swiss-Prot
  Q99793 UniProtKB/Swiss-Prot
  Q9NS88 UniProtKB/Swiss-Prot
  Q9UDC4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CACNA1A  calcium voltage-gated channel subunit alpha1 A    calcium channel, voltage-dependent, P/Q type, alpha 1A subunit  Symbol and/or name change 5135510 APPROVED