KCNA1 (potassium voltage-gated channel subfamily A member 1) - Rat Genome Database

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Gene: KCNA1 (potassium voltage-gated channel subfamily A member 1) Homo sapiens
Analyze
Symbol: KCNA1
Name: potassium voltage-gated channel subfamily A member 1
RGD ID: 1346938
HGNC Page HGNC:6218
Description: Enables delayed rectifier potassium channel activity and disordered domain specific binding activity. Involved in several processes, including magnesium ion homeostasis; membrane repolarization during action potential; and potassium ion transmembrane transport. Located in juxtaparanode region of axon; paranode region of axon; and plasma membrane. Part of voltage-gated potassium channel complex. Implicated in episodic ataxia type 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MGC126782; MGC138385; MK1; potassium channel, voltage gated shaker related subfamily A, member 1; potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia); RBK1; voltage-gated K(+) channel HuKI; voltage-gated potassium channel HBK1; voltage-gated potassium channel subunit Kv1.1
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
GRCh38124,909,905 - 4,918,256 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl124,909,905 - 4,918,256 (+)EnsemblGRCh38hg38GRCh38
GRCh37125,019,071 - 5,027,422 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36124,889,334 - 4,897,683 (+)NCBINCBI36Build 36hg18NCBI36
Build 34124,890,805 - 4,892,293NCBI
Celera126,640,916 - 6,649,264 (+)NCBICelera
Cytogenetic Map12p13.32NCBI
HuRef124,875,853 - 4,884,200 (+)NCBIHuRef
CHM1_1125,018,738 - 5,027,087 (+)NCBICHM1_1
T2T-CHM13v2.0124,916,952 - 4,925,303 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of movement  (IAGP)
Abnormality of the hand  (IAGP)
Abnormality of the musculature  (IAGP)
Absent thumbnail  (IAGP)
Anteverted nares  (IAGP)
Ataxia  (IAGP)
Athetosis  (IAGP)
Atonic seizure  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Blurred vision  (IAGP)
Broad finger  (IAGP)
Broad phalanx of the toes  (IAGP)
Calf muscle hypertrophy  (IAGP)
Cerebellar atrophy  (IAGP)
Chorea  (IAGP)
Choreoathetosis  (IAGP)
Cleft palate  (IAGP)
Clumsiness  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Craniofacial disproportion  (IAGP)
Delayed myelination  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Diplopia  (IAGP)
Dysarthria  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
EEG with burst suppression  (IAGP)
EEG with spike-wave complexes  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG abnormality  (IAGP)
Epileptic encephalopathy  (IAGP)
Episodic ataxia  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties  (IAGP)
Focal motor seizure  (IAGP)
Focal sensory seizure  (IAGP)
Focal tonic seizure  (IAGP)
Focal-onset seizure  (IAGP)
Generalized clonic seizure  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Global developmental delay  (IAGP)
Hand clenching  (IAGP)
Headache  (IAGP)
Hyperactivity  (IAGP)
Hyperhidrosis  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypsarrhythmia  (IAGP)
Incoordination  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Involuntary movements  (IAGP)
Juvenile onset  (IAGP)
Kyphoscoliosis  (IAGP)
Lethargy  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Migraine  (IAGP)
Motor delay  (IAGP)
Muscle spasm  (IAGP)
Muscle stiffness  (IAGP)
Myoclonus  (IAGP)
Myokymia  (IAGP)
Myotonia  (IAGP)
Nausea  (IAGP)
Pachygyria  (IAGP)
Poor coordination  (IAGP)
Poor head control  (IAGP)
Poor suck  (IAGP)
Postural instability  (IAGP)
Precocious puberty  (IAGP)
Recurrent respiratory infections  (IAGP)
Renal dysplasia  (IAGP)
Respiratory distress  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Short finger  (IAGP)
Sleep abnormality  (IAGP)
Sloping forehead  (IAGP)
Slurred speech  (IAGP)
Spastic gait  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Tip-toe gait  (IAGP)
Tremor  (IAGP)
Type 1 muscle fiber predominance  (IAGP)
Umbilical hernia  (IAGP)
Uni- and bilateral multifocal epileptiform discharges  (IAGP)
Ureterocele  (IAGP)
Variable expressivity  (IAGP)
Ventricular septal defect  (IAGP)
Vertigo  (IAGP)
Writer's cramp  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures. Ishida S, etal., Brain Res. 2012 Jan 30;1435:154-66. doi: 10.1016/j.brainres.2011.11.023. Epub 2011 Nov 13.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1349297   PMID:2128063   PMID:7477295   PMID:7842011   PMID:8541859   PMID:8821794   PMID:8845167   PMID:8871592   PMID:8938729   PMID:9600245   PMID:10355668   PMID:10428084  
PMID:10428758   PMID:10585425   PMID:10624965   PMID:11013453   PMID:11026449   PMID:11086297   PMID:11097830   PMID:11773313   PMID:11937501   PMID:11960817   PMID:12435606   PMID:12477932  
PMID:12799903   PMID:12893943   PMID:12907802   PMID:12944270   PMID:14592966   PMID:14702039   PMID:15136567   PMID:15351427   PMID:15486093   PMID:15532032   PMID:15837928   PMID:16344560  
PMID:16382104   PMID:17136396   PMID:17912752   PMID:18474843   PMID:18926884   PMID:19202350   PMID:19205071   PMID:19307729   PMID:19903818   PMID:19912772   PMID:19913121   PMID:19968958  
PMID:20301317   PMID:20301785   PMID:20628086   PMID:20660867   PMID:20823417   PMID:21106501   PMID:21307345   PMID:21483673   PMID:21827920   PMID:21847110   PMID:21873635   PMID:22158511  
PMID:22609616   PMID:23349320   PMID:23903368   PMID:24275721   PMID:24372310   PMID:24782544   PMID:25100718   PMID:26162324   PMID:26395884   PMID:26778656   PMID:26825872   PMID:27271339  
PMID:27477325   PMID:27619418   PMID:28658141   PMID:28666963   PMID:28676720   PMID:29062094   PMID:29294000   PMID:29415410   PMID:29564531   PMID:29791908   PMID:30055040   PMID:30652415  
PMID:31250689   PMID:31354026   PMID:31586945   PMID:32217768   PMID:32296183   PMID:32316562   PMID:32705822   PMID:33059680   PMID:33066705   PMID:33078631   PMID:38570113  


Genomics

Comparative Map Data
KCNA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38124,909,905 - 4,918,256 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl124,909,905 - 4,918,256 (+)EnsemblGRCh38hg38GRCh38
GRCh37125,019,071 - 5,027,422 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36124,889,334 - 4,897,683 (+)NCBINCBI36Build 36hg18NCBI36
Build 34124,890,805 - 4,892,293NCBI
Celera126,640,916 - 6,649,264 (+)NCBICelera
Cytogenetic Map12p13.32NCBI
HuRef124,875,853 - 4,884,200 (+)NCBIHuRef
CHM1_1125,018,738 - 5,027,087 (+)NCBICHM1_1
T2T-CHM13v2.0124,916,952 - 4,925,303 (+)NCBIT2T-CHM13v2.0
Kcna1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396126,613,426 - 126,622,764 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6126,617,360 - 126,623,347 (-)EnsemblGRCm39 Ensembl
GRCm386126,636,463 - 126,645,801 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6126,640,397 - 126,646,384 (-)EnsemblGRCm38mm10GRCm38
MGSCv376126,586,481 - 126,595,819 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366126,606,016 - 126,610,415 (-)NCBIMGSCv36mm8
Celera6128,306,063 - 128,315,400 (-)NCBICelera
Cytogenetic Map6F3NCBI
cM Map661.57NCBI
Kcna1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84161,150,378 - 161,160,051 (-)NCBIGRCr8
mRatBN7.24159,464,223 - 159,472,905 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4159,464,188 - 159,472,682 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4165,699,172 - 165,700,917 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04161,482,081 - 161,483,826 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04160,116,108 - 160,117,853 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04159,190,781 - 159,192,526 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4159,190,804 - 159,192,526 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04226,188,851 - 226,190,596 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44163,011,777 - 163,013,522 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14163,254,845 - 163,259,290 (-)NCBI
Celera4148,186,141 - 148,187,886 (-)NCBICelera
Cytogenetic Map4q42NCBI
Kcna1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554132,703,030 - 2,711,612 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554132,703,030 - 2,711,612 (+)NCBIChiLan1.0ChiLan1.0
KCNA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21010,458,271 - 10,468,092 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11210,455,043 - 10,464,850 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0125,027,333 - 5,037,136 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1124,949,464 - 4,957,811 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl124,950,938 - 4,952,425 (+)Ensemblpanpan1.1panPan2
KCNA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12739,928,347 - 39,936,753 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2739,933,825 - 39,935,312 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha276,745,890 - 6,747,377 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02740,289,956 - 40,291,443 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2740,289,873 - 40,292,984 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12740,179,028 - 40,180,515 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02740,203,981 - 40,205,468 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0276,156,901 - 6,158,388 (+)NCBIUU_Cfam_GSD_1.0
LOC101959799
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721327,488,417 - 27,489,932 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004937109142,711 - 144,198 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004937109142,711 - 144,257 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl565,561,962 - 65,565,116 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1565,556,837 - 65,565,880 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2567,763,338 - 67,770,194 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1114,956,824 - 4,963,732 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl114,956,856 - 4,958,343 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660633,283,565 - 3,291,460 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcna1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248601,915,344 - 1,923,062 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248601,915,108 - 1,923,071 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNA1
619 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000217.3(KCNA1):c.84C>A (p.Ala28=) single nucleotide variant Episodic ataxia type 1 [RCV000548781] Chr12:4911462 [GRCh38]
Chr12:5020628 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.60G>C (p.Gln20His) single nucleotide variant Episodic ataxia type 1 [RCV000639376]|not provided [RCV000517963] Chr12:4911438 [GRCh38]
Chr12:5020604 [GRCh37]
Chr12:12p13.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_000217.3(KCNA1):c.913C>T (p.Leu305Phe) single nucleotide variant Episodic ataxia type 1 [RCV001775128]|not provided [RCV000517456] Chr12:4912291 [GRCh38]
Chr12:5021457 [GRCh37]
Chr12:12p13.32		 likely pathogenic
NM_000217.3(KCNA1):c.803C>A (p.Thr268Lys) single nucleotide variant not provided [RCV000722602] Chr12:4912181 [GRCh38]
Chr12:5021347 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1170C>G (p.Ser390=) single nucleotide variant Episodic ataxia type 1 [RCV000547176] Chr12:4912548 [GRCh38]
Chr12:5021714 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.393G>A (p.Arg131=) single nucleotide variant Episodic ataxia type 1 [RCV000544605]|not specified [RCV000518791] Chr12:4911771 [GRCh38]
Chr12:5020937 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.114C>T (p.Arg38=) single nucleotide variant Episodic ataxia type 1 [RCV001088884]|not provided [RCV000878436] Chr12:4911492 [GRCh38]
Chr12:5020658 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.168G>T (p.Ala56=) single nucleotide variant Episodic ataxia type 1 [RCV000545853] Chr12:4911546 [GRCh38]
Chr12:5020712 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1214C>T (p.Pro405Leu) single nucleotide variant Episodic ataxia type 1 [RCV001857907]|not provided [RCV000516981] Chr12:4912592 [GRCh38]
Chr12:5021758 [GRCh37]
Chr12:12p13.32		 pathogenic|uncertain significance
NM_000217.3(KCNA1):c.1222G>T (p.Val408Leu) single nucleotide variant Episodic ataxia type 1 [RCV000020217] Chr12:4912600 [GRCh38]
Chr12:5021766 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.1241T>G (p.Phe414Cys) single nucleotide variant Episodic ataxia type 1 [RCV000020218] Chr12:4912619 [GRCh38]
Chr12:5021785 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.677C>T (p.Thr226Met) single nucleotide variant Episodic ataxia type 1 [RCV000020219]|not provided [RCV004786276] Chr12:4912055 [GRCh38]
Chr12:5021221 [GRCh37]
Chr12:12p13.32		 pathogenic|not provided
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) single nucleotide variant Episodic ataxia type 1 [RCV000288623]|Myokymia [RCV000390363]|not provided [RCV000712105]|not specified [RCV000117315] Chr12:4912062 [GRCh38]
Chr12:5021228 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.745TTC[1] (p.Phe250del) microsatellite Episodic ataxia type 1 [RCV005099598]|Inborn genetic diseases [RCV002718822] Chr12:4912122..4912124 [GRCh38]
Chr12:5021288..5021290 [GRCh37]
Chr12:12p13.32		 pathogenic|likely pathogenic
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) single nucleotide variant Episodic ataxia type 1 [RCV000391589]|Hereditary episodic ataxia [RCV000343851]|not provided [RCV000712106]|not specified [RCV000117316] Chr12:4912182 [GRCh38]
Chr12:5021348 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.1223T>C (p.Val408Ala) single nucleotide variant Episodic ataxia type 1 [RCV000014424] Chr12:4912601 [GRCh38]
Chr12:5021767 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.715C>A (p.Arg239Ser) single nucleotide variant Episodic ataxia type 1 [RCV000014425] Chr12:4912093 [GRCh38]
Chr12:5021259 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.520G>T (p.Val174Phe) single nucleotide variant Episodic ataxia type 1 [RCV000014426]|Inborn genetic diseases [RCV001265691] Chr12:4911898 [GRCh38]
Chr12:5021064 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.745T>A (p.Phe249Ile) single nucleotide variant Episodic ataxia type 1 [RCV000014427] Chr12:4912123 [GRCh38]
Chr12:5021289 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.551T>G (p.Phe184Cys) single nucleotide variant Episodic ataxia type 1 [RCV000014428] Chr12:4911929 [GRCh38]
Chr12:5021095 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.975G>C (p.Glu325Asp) single nucleotide variant Episodic ataxia type 1 [RCV000014429] Chr12:4912353 [GRCh38]
Chr12:5021519 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.676A>G (p.Thr226Ala) single nucleotide variant Episodic ataxia type 1 [RCV000014430]|not provided [RCV003221784] Chr12:4912054 [GRCh38]
Chr12:5021220 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.1210G>A (p.Val404Ile) single nucleotide variant Episodic ataxia type 1 [RCV000014431]|not provided [RCV002509157] Chr12:4912588 [GRCh38]
Chr12:5021754 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.530T>A (p.Ile177Asn) single nucleotide variant Episodic ataxia type 1 [RCV000014432] Chr12:4911908 [GRCh38]
Chr12:5021074 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.724G>C (p.Ala242Pro) single nucleotide variant Myokymia 1 [RCV000014433]|not provided [RCV000441803] Chr12:4912102 [GRCh38]
Chr12:5021268 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.731C>A (p.Pro244His) single nucleotide variant Myokymia 1 [RCV000014434] Chr12:4912109 [GRCh38]
Chr12:5021275 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.1249C>T (p.Arg417Ter) single nucleotide variant Episodic ataxia type 1 [RCV000014435] Chr12:4912627 [GRCh38]
Chr12:5021793 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.677C>G (p.Thr226Arg) single nucleotide variant Episodic ataxia type 1 [RCV000014436]|not provided [RCV001785451] Chr12:4912055 [GRCh38]
Chr12:5021221 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.677C>A (p.Thr226Lys) single nucleotide variant Myokymia 1 [RCV000014437] Chr12:4912055 [GRCh38]
Chr12:5021221 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.763A>G (p.Asn255Asp) single nucleotide variant Myokymia 1 with hypomagnesemia [RCV000014438] Chr12:4912141 [GRCh38]
Chr12:5021307 [GRCh37]
Chr12:12p13.32		 pathogenic
GRCh38/hg38 12p13.32-13.31(chr12:4832052-5947324)x3 copy number gain See cases [RCV000051954] Chr12:4832052..5947324 [GRCh38]
Chr12:4941218..6056490 [GRCh37]
Chr12:4811479..5926751 [NCBI36]
Chr12:12p13.32-13.31		 uncertain significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
NM_000217.2(KCNA1):c.590A>T (p.Asp197Val) single nucleotide variant Malignant melanoma [RCV000070027] Chr12:4911968 [GRCh38]
Chr12:5021134 [GRCh37]
Chr12:4891395 [NCBI36]
Chr12:12p13.32		 not provided
NM_000217.2(KCNA1):c.723C>T (p.Phe241=) single nucleotide variant Malignant melanoma [RCV000062521] Chr12:4912101 [GRCh38]
Chr12:5021267 [GRCh37]
Chr12:4891528 [NCBI36]
Chr12:12p13.32		 not provided
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) single nucleotide variant Episodic ataxia type 1 [RCV000606572]|Myokymia [RCV000297286]|not provided [RCV000712102]|not specified [RCV000117314] Chr12:4912818 [GRCh38]
Chr12:5021984 [GRCh37]
Chr12:12p13.32		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000217.3(KCNA1):c.237G>A (p.Glu79=) single nucleotide variant Episodic ataxia type 1 [RCV000873798]|KCNA1-related disorder [RCV004737268]|not provided [RCV003390898]|not specified [RCV000175557] Chr12:4911615 [GRCh38]
Chr12:5020781 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.1296C>G (p.Ser432=) single nucleotide variant Episodic ataxia type 1 [RCV000552817]|Myokymia [RCV000300664]|not provided [RCV001682887]|not specified [RCV000175558] Chr12:4912674 [GRCh38]
Chr12:5021840 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.1202C>T (p.Ala401Val) single nucleotide variant Inborn genetic diseases [RCV000190768]|not provided [RCV001570793] Chr12:4912580 [GRCh38]
Chr12:5021746 [GRCh37]
Chr12:12p13.32		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 copy number gain See cases [RCV000135350] Chr12:45740..6945196 [GRCh38]
Chr12:147099..7054359 [GRCh37]
Chr12:17360..6924620 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1 copy number loss See cases [RCV000136848] Chr12:199896..5807366 [GRCh38]
Chr12:309062..5916532 [GRCh37]
Chr12:179323..5786793 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3 copy number gain See cases [RCV000143357] Chr12:418421..6235914 [GRCh38]
Chr12:527587..6345080 [GRCh37]
Chr12:397848..6215341 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly) single nucleotide variant Episodic ataxia type 1 [RCV001088211]|Inborn genetic diseases [RCV003343672]|KCNA1-related disorder [RCV004552972]|not provided [RCV000710151]|not specified [RCV000175555] Chr12:4912705 [GRCh38]
Chr12:5021871 [GRCh37]
Chr12:12p13.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000217.3(KCNA1):c.*9G>A single nucleotide variant Episodic ataxia type 1 [RCV000271582]|Myokymia [RCV000377766]|not provided [RCV000712098]|not specified [RCV000175556] Chr12:4912875 [GRCh38]
Chr12:5022041 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.1479C>A (p.Thr493=) single nucleotide variant not provided [RCV000175559] Chr12:4912857 [GRCh38]
Chr12:5022023 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh38/hg38 12p13.32-13.31(chr12:4772521-5854093)x1 copy number loss Breast ductal adenocarcinoma [RCV000207062] Chr12:4772521..5854093 [GRCh38]
Chr12:4881687..5963259 [GRCh37]
Chr12:12p13.32-13.31		 uncertain significance
chr12:4920767-5603935 complex variant complex Breast ductal adenocarcinoma [RCV000207328] Chr12:4920767..5603935 [GRCh37]
Chr12:12p13.32-13.31		 uncertain significance
GRCh37/hg19 12p13.32(chr12:4872405-5347944)x3 copy number gain See cases [RCV000239919] Chr12:4872405..5347944 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.705G>A (p.Glu235=) single nucleotide variant not specified [RCV000516366] Chr12:4912083 [GRCh38]
Chr12:5021249 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_000217.3(KCNA1):c.*786G>A single nucleotide variant Episodic ataxia type 1 [RCV000281505]|Hereditary episodic ataxia [RCV000338924]|not provided [RCV002262964] Chr12:4913652 [GRCh38]
Chr12:5022818 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*2596A>T single nucleotide variant Episodic ataxia type 1 [RCV000281847]|Hereditary episodic ataxia [RCV000374017] Chr12:4915462 [GRCh38]
Chr12:5024628 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*5141G>A single nucleotide variant Episodic ataxia type 1 [RCV000282033]|Hereditary episodic ataxia [RCV000337102]|not provided [RCV001672474] Chr12:4918007 [GRCh38]
Chr12:5027173 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.*5145T>C single nucleotide variant Episodic ataxia type 1 [RCV000377298]|Hereditary episodic ataxia [RCV000282748]|not provided [RCV001788196] Chr12:4918011 [GRCh38]
Chr12:5027177 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*1892C>T single nucleotide variant Episodic ataxia type 1 [RCV000300492]|Myokymia [RCV000352979] Chr12:4914758 [GRCh38]
Chr12:5023924 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.-959C>T single nucleotide variant Episodic ataxia type 1 [RCV000300754]|Myokymia [RCV000407829] Chr12:4910053 [GRCh38]
Chr12:5019219 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.*883T>G single nucleotide variant Episodic ataxia type 1 [RCV000283685]|Myokymia [RCV000341055] Chr12:4913749 [GRCh38]
Chr12:5022915 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1464G>A (p.Lys488=) single nucleotide variant Episodic ataxia type 1 [RCV000531086]|Hereditary episodic ataxia [RCV000320846]|KCNA1-related disorder [RCV004549669]|not specified [RCV004586677] Chr12:4912842 [GRCh38]
Chr12:5022008 [GRCh37]
Chr12:12p13.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000217.3(KCNA1):c.*2308C>G single nucleotide variant Episodic ataxia type 1 [RCV000309592]|Myokymia [RCV000266227]|not provided [RCV002264927] Chr12:4915174 [GRCh38]
Chr12:5024340 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*1504G>A single nucleotide variant Episodic ataxia type 1 [RCV000284544]|Hereditary episodic ataxia [RCV000376682] Chr12:4914370 [GRCh38]
Chr12:5023536 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*2727C>T single nucleotide variant Episodic ataxia type 1 [RCV000339675]|Hereditary episodic ataxia [RCV000284686] Chr12:4915593 [GRCh38]
Chr12:5024759 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.-731C>G single nucleotide variant Episodic ataxia type 1 [RCV000302057]|Hereditary episodic ataxia [RCV000404220] Chr12:4910281 [GRCh38]
Chr12:5019447 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.*1469G>A single nucleotide variant Episodic ataxia type 1 [RCV000324447]|Hereditary episodic ataxia [RCV000285843]|not provided [RCV002262965] Chr12:4914335 [GRCh38]
Chr12:5023501 [GRCh37]
Chr12:12p13.32		 benign|likely benign|uncertain significance
NM_000217.3(KCNA1):c.*406C>T single nucleotide variant Episodic ataxia type 1 [RCV000391844]|Myokymia [RCV000304169]|not provided [RCV001642963] Chr12:4913272 [GRCh38]
Chr12:5022438 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.*2313C>T single nucleotide variant Episodic ataxia type 1 [RCV000269963]|Myokymia [RCV000362232] Chr12:4915179 [GRCh38]
Chr12:5024345 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*517T>C single nucleotide variant Episodic ataxia type 1 [RCV000327048]|Hereditary episodic ataxia [RCV000269624] Chr12:4913383 [GRCh38]
Chr12:5022549 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*127A>C single nucleotide variant Episodic ataxia type 1 [RCV000350871]|Myokymia [RCV000288946] Chr12:4912993 [GRCh38]
Chr12:5022159 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*3503C>T single nucleotide variant Episodic ataxia type 1 [RCV000288841]|Myokymia [RCV000343847] Chr12:4916369 [GRCh38]
Chr12:5025535 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*1524A>G single nucleotide variant Episodic ataxia type 1 [RCV000289171]|Myokymia [RCV000351088]|not provided [RCV001636879] Chr12:4914390 [GRCh38]
Chr12:5023556 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.*2554C>T single nucleotide variant Episodic ataxia type 1 [RCV000273555]|Hereditary episodic ataxia [RCV000330926] Chr12:4915420 [GRCh38]
Chr12:5024586 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*3062T>C single nucleotide variant Episodic ataxia type 1 [RCV000364852]|Myokymia [RCV000310227]|not provided [RCV001660615] Chr12:4915928 [GRCh38]
Chr12:5025094 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.*1308C>T single nucleotide variant Episodic ataxia type 1 [RCV000273627]|Hereditary episodic ataxia [RCV000330999] Chr12:4914174 [GRCh38]
Chr12:5023340 [GRCh37]
Chr12:12p13.32		 likely benign|uncertain significance
NM_000217.3(KCNA1):c.*2080G>A single nucleotide variant Episodic ataxia type 1 [RCV000325841]|Hereditary episodic ataxia [RCV000291849] Chr12:4914946 [GRCh38]
Chr12:5024112 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*4439C>T single nucleotide variant Episodic ataxia type 1 [RCV000292257]|Hereditary episodic ataxia [RCV000351825]|not provided [RCV004708267] Chr12:4917305 [GRCh38]
Chr12:5026471 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.-478dup duplication Hereditary episodic ataxia [RCV000386649]|Myokymia [RCV000292332] Chr12:4910895..4910896 [GRCh38]
Chr12:5020061..5020062 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.*3176A>T single nucleotide variant Episodic ataxia type 1 [RCV000311465]|Myokymia [RCV000275029] Chr12:4916042 [GRCh38]
Chr12:5025208 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*189G>A single nucleotide variant Episodic ataxia type 1 [RCV000292554]|Myokymia [RCV000389228]|not provided [RCV004703639] Chr12:4913055 [GRCh38]
Chr12:5022221 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.-134G>T single nucleotide variant Episodic ataxia type 1 [RCV000276296]|Hereditary episodic ataxia [RCV000371321]|not provided [RCV001672473] Chr12:4911245 [GRCh38]
Chr12:5020411 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*2245C>G single nucleotide variant Episodic ataxia type 1 [RCV000293908]|Hereditary episodic ataxia [RCV000337229]|not provided [RCV002510844] Chr12:4915111 [GRCh38]
Chr12:5024277 [GRCh37]
Chr12:12p13.32		 benign|likely benign|uncertain significance
NM_000217.3(KCNA1):c.*3588T>C single nucleotide variant Episodic ataxia type 1 [RCV000400828]|Hereditary episodic ataxia [RCV000294129]|not provided [RCV003326403] Chr12:4916454 [GRCh38]
Chr12:5025620 [GRCh37]
Chr12:12p13.32		 likely benign|uncertain significance
NM_000217.3(KCNA1):c.*2123A>G single nucleotide variant Episodic ataxia type 1 [RCV000295261]|Hereditary episodic ataxia [RCV000382816]|not provided [RCV002509363] Chr12:4914989 [GRCh38]
Chr12:5024155 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*486G>C single nucleotide variant Episodic ataxia type 1 [RCV000264165]|Hereditary episodic ataxia [RCV000361102] Chr12:4913352 [GRCh38]
Chr12:5022518 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*1927A>T single nucleotide variant Episodic ataxia type 1 [RCV000322618]|Myokymia [RCV000260392]|not provided [RCV004706980] Chr12:4914793 [GRCh38]
Chr12:5023959 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.*592C>A single nucleotide variant Episodic ataxia type 1 [RCV000277526]|Myokymia [RCV000388642] Chr12:4913458 [GRCh38]
Chr12:5022624 [GRCh37]
Chr12:12p13.32		 benign|uncertain significance
NM_000217.3(KCNA1):c.*4635G>C single nucleotide variant Episodic ataxia type 1 [RCV000279418]|Hereditary episodic ataxia [RCV000397363]|not provided [RCV004703640] Chr12:4917501 [GRCh38]
Chr12:5026667 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.-839C>T single nucleotide variant Episodic ataxia type 1 [RCV000361506]|Hereditary episodic ataxia [RCV000297373] Chr12:4910173 [GRCh38]
Chr12:5019339 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.-428C>T single nucleotide variant Episodic ataxia type 1 [RCV000279497]|Hereditary episodic ataxia [RCV000334507] Chr12:4910951 [GRCh38]
Chr12:5020117 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*5191G>A single nucleotide variant Episodic ataxia type 1 [RCV000400829]|Myokymia [RCV000342518]|not provided [RCV003389787] Chr12:4918057 [GRCh38]
Chr12:5027223 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*829A>G single nucleotide variant Episodic ataxia type 1 [RCV000342169]|Hereditary episodic ataxia [RCV000400187] Chr12:4913695 [GRCh38]
Chr12:5022861 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4926G>A single nucleotide variant Episodic ataxia type 1 [RCV000360462]|Myokymia [RCV000270441] Chr12:4917792 [GRCh38]
Chr12:5026958 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4234A>G single nucleotide variant Episodic ataxia type 1 [RCV000321334]|Hereditary episodic ataxia [RCV000362077] Chr12:4917100 [GRCh38]
Chr12:5026266 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*2005G>A single nucleotide variant Episodic ataxia type 1 [RCV000383221]|Hereditary episodic ataxia [RCV000321658]|not provided [RCV002509362] Chr12:4914871 [GRCh38]
Chr12:5024037 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*2987G>A single nucleotide variant Episodic ataxia type 1 [RCV000390883]|Hereditary episodic ataxia [RCV000345331] Chr12:4915853 [GRCh38]
Chr12:5025019 [GRCh37]
Chr12:12p13.32		 likely benign|uncertain significance
NM_000217.3(KCNA1):c.*1681T>C single nucleotide variant Episodic ataxia type 1 [RCV000391759]|Myokymia [RCV000368301]|not provided [RCV001660614] Chr12:4914547 [GRCh38]
Chr12:5023713 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.-684G>T single nucleotide variant Episodic ataxia type 1 [RCV000271488]|Hereditary episodic ataxia [RCV000366067] Chr12:4910328 [GRCh38]
Chr12:5019494 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1364T>A (p.Met455Lys) single nucleotide variant Episodic ataxia type 1 [RCV002522229]|Hereditary episodic ataxia [RCV000260786]|Myokymia [RCV000355613] Chr12:4912742 [GRCh38]
Chr12:5021908 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*3316T>C single nucleotide variant Episodic ataxia type 1 [RCV000282822]|Myokymia [RCV000377218] Chr12:4916182 [GRCh38]
Chr12:5025348 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.412A>C (p.Lys138Gln) single nucleotide variant Episodic ataxia type 1 [RCV000347271]|Myokymia [RCV000282894] Chr12:4911790 [GRCh38]
Chr12:5020956 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*1522C>G single nucleotide variant Episodic ataxia type 1 [RCV000390249]|Hereditary episodic ataxia [RCV000347607]|not provided [RCV002266952] Chr12:4914388 [GRCh38]
Chr12:5023554 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*3724C>T single nucleotide variant Episodic ataxia type 1 [RCV000400135]|Hereditary episodic ataxia [RCV000349020]|not provided [RCV001785557] Chr12:4916590 [GRCh38]
Chr12:5025756 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*4903C>G single nucleotide variant Episodic ataxia type 1 [RCV000407033]|Hereditary episodic ataxia [RCV000305855] Chr12:4917769 [GRCh38]
Chr12:5026935 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*2286A>C single nucleotide variant Episodic ataxia type 1 [RCV000358433]|Myokymia [RCV000305979] Chr12:4915152 [GRCh38]
Chr12:5024318 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4957C>A single nucleotide variant Episodic ataxia type 1 [RCV000306951]|Hereditary episodic ataxia [RCV000366237] Chr12:4917823 [GRCh38]
Chr12:5026989 [GRCh37]
Chr12:12p13.32		 likely benign|uncertain significance
NM_000217.3(KCNA1):c.*228A>C single nucleotide variant Episodic ataxia type 1 [RCV000398646]|Hereditary episodic ataxia [RCV000349559]|not provided [RCV001571954] Chr12:4913094 [GRCh38]
Chr12:5022260 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*3268C>T single nucleotide variant Episodic ataxia type 1 [RCV000262840]|Myokymia [RCV000318039] Chr12:4916134 [GRCh38]
Chr12:5025300 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-157T>A single nucleotide variant Episodic ataxia type 1 [RCV000307305]|Hereditary episodic ataxia [RCV000390912] Chr12:4911222 [GRCh38]
Chr12:5020388 [GRCh37]
Chr12:12p13.32		 likely benign|uncertain significance
NM_000217.3(KCNA1):c.*5209C>T single nucleotide variant Episodic ataxia type 1 [RCV000343776]|Hereditary episodic ataxia [RCV000307567] Chr12:4918075 [GRCh38]
Chr12:5027241 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*1444CAAA[6] microsatellite Hereditary episodic ataxia [RCV000355539]|Myokymia [RCV000263102] Chr12:4914309..4914310 [GRCh38]
Chr12:5023475..5023476 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.*5274A>G single nucleotide variant Episodic ataxia type 1 [RCV000274195]|Myokymia [RCV000368783] Chr12:4918140 [GRCh38]
Chr12:5027306 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*5212C>T single nucleotide variant Episodic ataxia type 1 [RCV000402044]|Hereditary episodic ataxia [RCV000308858] Chr12:4918078 [GRCh38]
Chr12:5027244 [GRCh37]
Chr12:12p13.32		 likely benign|uncertain significance
NM_000217.3(KCNA1):c.*2174C>T single nucleotide variant Episodic ataxia type 1 [RCV000385947]|Hereditary episodic ataxia [RCV000352430]|not provided [RCV001618542] Chr12:4915040 [GRCh38]
Chr12:5024206 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.-27C>T single nucleotide variant Episodic ataxia type 1 [RCV000263773]|Hereditary episodic ataxia [RCV000319009] Chr12:4911352 [GRCh38]
Chr12:5020518 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*5106C>G single nucleotide variant Episodic ataxia type 1 [RCV000274948]|Myokymia [RCV000330079] Chr12:4917972 [GRCh38]
Chr12:5027138 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*923T>C single nucleotide variant Hereditary episodic ataxia [RCV000390903]|Myokymia [RCV000309830] Chr12:4913789 [GRCh38]
Chr12:5022955 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.*2333G>A single nucleotide variant Episodic ataxia type 1 [RCV000331933]|Hereditary episodic ataxia [RCV000388826]|not provided [RCV001683243] Chr12:4915199 [GRCh38]
Chr12:5024365 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.144C>T (p.Phe48=) single nucleotide variant Episodic ataxia type 1 [RCV002521876]|not provided [RCV000286605] Chr12:4911522 [GRCh38]
Chr12:5020688 [GRCh37]
Chr12:12p13.32		 likely benign|uncertain significance
NM_000217.3(KCNA1):c.*2000C>T single nucleotide variant Episodic ataxia type 1 [RCV000361152]|Hereditary episodic ataxia [RCV000264086] Chr12:4914866 [GRCh38]
Chr12:5024032 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*5139dup duplication Hereditary episodic ataxia [RCV000389305]|Myokymia [RCV000276015] Chr12:4917999..4918000 [GRCh38]
Chr12:5027165..5027166 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*1577A>T single nucleotide variant Episodic ataxia type 1 [RCV000311249]|Hereditary episodic ataxia [RCV000401328] Chr12:4914443 [GRCh38]
Chr12:5023609 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.-110G>A single nucleotide variant Episodic ataxia type 1 [RCV000367845]|Hereditary episodic ataxia [RCV000331891]|not provided [RCV001711914] Chr12:4911269 [GRCh38]
Chr12:5020435 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.*3185del deletion Hereditary episodic ataxia [RCV000370554]|Myokymia [RCV000276215] Chr12:4916051 [GRCh38]
Chr12:5025217 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4663G>A single nucleotide variant Episodic ataxia type 1 [RCV000398545]|Myokymia [RCV000334500] Chr12:4917529 [GRCh38]
Chr12:5026695 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.611G>A (p.Arg204His) single nucleotide variant Episodic ataxia type 1 [RCV001088859]|not provided [RCV000358778] Chr12:4911989 [GRCh38]
Chr12:5021155 [GRCh37]
Chr12:12p13.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000217.3(KCNA1):c.-487A>G single nucleotide variant Episodic ataxia type 1 [RCV000277307]|Hereditary episodic ataxia [RCV000332298] Chr12:4910892 [GRCh38]
Chr12:5020058 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=) single nucleotide variant Episodic ataxia type 1 [RCV000532447]|Hereditary episodic ataxia [RCV000313389]|KCNA1-related disorder [RCV004549668]|not provided [RCV001532205]|not specified [RCV000517839] Chr12:4912503 [GRCh38]
Chr12:5021669 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*4177C>T single nucleotide variant Episodic ataxia type 1 [RCV000356246]|Hereditary episodic ataxia [RCV000266216] Chr12:4917043 [GRCh38]
Chr12:5026209 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*3840G>A single nucleotide variant Episodic ataxia type 1 [RCV000354744]|Myokymia [RCV000313894] Chr12:4916706 [GRCh38]
Chr12:5025872 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.*2277_*2278del deletion Hereditary episodic ataxia [RCV000407461]|Myokymia [RCV000336580] Chr12:4915138..4915139 [GRCh38]
Chr12:5024304..5024305 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.1222G>A (p.Val408Met) single nucleotide variant not provided [RCV000293427] Chr12:4912600 [GRCh38]
Chr12:5021766 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4236C>T single nucleotide variant Episodic ataxia type 1 [RCV000327148]|Hereditary episodic ataxia [RCV000267454] Chr12:4917102 [GRCh38]
Chr12:5026268 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.303C>T (p.Arg101=) single nucleotide variant Episodic ataxia type 1 [RCV000373544]|Hereditary episodic ataxia [RCV000278942] Chr12:4911681 [GRCh38]
Chr12:5020847 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*804C>A single nucleotide variant Episodic ataxia type 1 [RCV000280308]|Hereditary episodic ataxia [RCV000372450] Chr12:4913670 [GRCh38]
Chr12:5022836 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-235C>A single nucleotide variant Episodic ataxia type 1 [RCV000392399]|Myokymia [RCV000341021]|not provided [RCV002274989] Chr12:4911144 [GRCh38]
Chr12:5020310 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.941T>C (p.Ile314Thr) single nucleotide variant Episodic ataxia type 1 [RCV001782976]|not provided [RCV000489690] Chr12:4912319 [GRCh38]
Chr12:5021485 [GRCh37]
Chr12:12p13.32		 likely pathogenic
NM_000217.3(KCNA1):c.*965A>T single nucleotide variant Episodic ataxia type 1 [RCV000362164]|Hereditary episodic ataxia [RCV000390913] Chr12:4913831 [GRCh38]
Chr12:5022997 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4289T>A single nucleotide variant Episodic ataxia type 1 [RCV000292095]|Myokymia [RCV000381728] Chr12:4917155 [GRCh38]
Chr12:5026321 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*5279C>T single nucleotide variant Episodic ataxia type 1 [RCV000315161]|Myokymia [RCV000369887] Chr12:4918145 [GRCh38]
Chr12:5027311 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*724G>A single nucleotide variant Episodic ataxia type 1 [RCV000387055]|Hereditary episodic ataxia [RCV000330227] Chr12:4913590 [GRCh38]
Chr12:5022756 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*1444CAAA[4] microsatellite Hereditary episodic ataxia [RCV000315994]|Myokymia [RCV000372987] Chr12:4914310..4914313 [GRCh38]
Chr12:5023476..5023479 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*2758G>A single nucleotide variant Episodic ataxia type 1 [RCV000304620]|Hereditary episodic ataxia [RCV000399212] Chr12:4915624 [GRCh38]
Chr12:5024790 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*3200A>G single nucleotide variant Episodic ataxia type 1 [RCV000317263]|Myokymia [RCV000353335] Chr12:4916066 [GRCh38]
Chr12:5025232 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*5136A>G single nucleotide variant Episodic ataxia type 1 [RCV000317313]|Hereditary episodic ataxia [RCV000371952] Chr12:4918002 [GRCh38]
Chr12:5027168 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-968C>T single nucleotide variant Episodic ataxia type 1 [RCV000349823]|Hereditary episodic ataxia [RCV000294867] Chr12:4910044 [GRCh38]
Chr12:5019210 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-482G>C single nucleotide variant Episodic ataxia type 1 [RCV000319276]|Myokymia [RCV000373998] Chr12:4910897 [GRCh38]
Chr12:5020063 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*2651C>T single nucleotide variant Episodic ataxia type 1 [RCV000372914]|Myokymia [RCV000334583] Chr12:4915517 [GRCh38]
Chr12:5024683 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-300ACA[3] microsatellite Hereditary episodic ataxia [RCV000400698]|Myokymia [RCV000285288] Chr12:4911078..4911080 [GRCh38]
Chr12:5020244..5020246 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-865AG[2] microsatellite Hereditary episodic ataxia [RCV000337085]|Myokymia [RCV000407865] Chr12:4910146..4910147 [GRCh38]
Chr12:5019312..5019313 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.370G>A (p.Glu124Lys) single nucleotide variant Episodic ataxia type 1 [RCV000529699] Chr12:4911748 [GRCh38]
Chr12:5020914 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*2278dup duplication Hereditary episodic ataxia [RCV000297864]|Myokymia [RCV000401958] Chr12:4915137..4915138 [GRCh38]
Chr12:5024303..5024304 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*511A>G single nucleotide variant Episodic ataxia type 1 [RCV000309477]|Hereditary episodic ataxia [RCV000366446] Chr12:4913377 [GRCh38]
Chr12:5022543 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*3495G>C single nucleotide variant Episodic ataxia type 1 [RCV000323979]|Hereditary episodic ataxia [RCV000378517] Chr12:4916361 [GRCh38]
Chr12:5025527 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-230C>G single nucleotide variant Episodic ataxia type 1 [RCV000365361]|Myokymia [RCV000310717] Chr12:4911149 [GRCh38]
Chr12:5020315 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.317T>C (p.Val106Ala) single nucleotide variant Episodic ataxia type 1 [RCV000379303]|Myokymia [RCV000324825] Chr12:4911695 [GRCh38]
Chr12:5020861 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-1040G>T single nucleotide variant Episodic ataxia type 1 [RCV000288823]|Myokymia [RCV000383010] Chr12:4909972 [GRCh38]
Chr12:5019138 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4718C>T single nucleotide variant Episodic ataxia type 1 [RCV000300060]|Myokymia [RCV000359437] Chr12:4917584 [GRCh38]
Chr12:5026750 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*234A>T single nucleotide variant Episodic ataxia type 1 [RCV000334271]|Hereditary episodic ataxia [RCV000300419] Chr12:4913100 [GRCh38]
Chr12:5022266 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-636G>C single nucleotide variant Episodic ataxia type 1 [RCV000326427]|Myokymia [RCV000362532] Chr12:4910376 [GRCh38]
Chr12:5019542 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4152A>G single nucleotide variant Episodic ataxia type 1 [RCV000301035]|Hereditary episodic ataxia [RCV000393681] Chr12:4917018 [GRCh38]
Chr12:5026184 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4303A>T single nucleotide variant Episodic ataxia type 1 [RCV000327350]|Hereditary episodic ataxia [RCV000386581] Chr12:4917169 [GRCh38]
Chr12:5026335 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*1012A>T single nucleotide variant Episodic ataxia type 1 [RCV000370492]|Myokymia [RCV000313459] Chr12:4913878 [GRCh38]
Chr12:5023044 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*88G>A single nucleotide variant Episodic ataxia type 1 [RCV000381181]|Myokymia [RCV000328855] Chr12:4912954 [GRCh38]
Chr12:5022120 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-1034C>T single nucleotide variant Episodic ataxia type 1 [RCV000388963]|Hereditary episodic ataxia [RCV000343778] Chr12:4909978 [GRCh38]
Chr12:5019144 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.496G>C (p.Ala166Pro) single nucleotide variant Episodic ataxia type 1 [RCV005091186]|not specified [RCV000516865] Chr12:4911874 [GRCh38]
Chr12:5021040 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.621CAC[1] (p.Thr209del) microsatellite Episodic ataxia type 1 [RCV000534163] Chr12:4911999..4912001 [GRCh38]
Chr12:5021165..5021167 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.53A>C (p.His18Pro) single nucleotide variant Episodic ataxia type 1 [RCV000560254]|Inborn genetic diseases [RCV003168608]|not provided [RCV000415980] Chr12:4911431 [GRCh38]
Chr12:5020597 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1054G>C (p.Ala352Pro) single nucleotide variant not provided [RCV000416167] Chr12:4912432 [GRCh38]
Chr12:5021598 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1126G>C (p.Gly376Arg) single nucleotide variant Episodic ataxia type 1 [RCV000709846]|not provided [RCV000522746] Chr12:4912504 [GRCh38]
Chr12:5021670 [GRCh37]
Chr12:12p13.32		 likely pathogenic|uncertain significance|not provided
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6378954)x1 copy number loss See cases [RCV000447106] Chr12:173786..6378954 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5737510)x1 copy number loss See cases [RCV000446628] Chr12:173786..5737510 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_000217.3(KCNA1):c.872T>A (p.Leu291His) single nucleotide variant not provided [RCV000480540] Chr12:4912250 [GRCh38]
Chr12:5021416 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1183G>T (p.Ala395Ser) single nucleotide variant Episodic ataxia type 1 [RCV000496443]|not provided [RCV004783794] Chr12:4912561 [GRCh38]
Chr12:5021727 [GRCh37]
Chr12:12p13.32		 likely pathogenic|uncertain significance
NM_000217.3(KCNA1):c.76C>T (p.Arg26Trp) single nucleotide variant Episodic ataxia type 1 [RCV002481619]|not specified [RCV000504366] Chr12:4911454 [GRCh38]
Chr12:5020620 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
NM_000217.3(KCNA1):c.1466G>A (p.Ser489Asn) single nucleotide variant Episodic ataxia type 1 [RCV005010413]|not provided [RCV000492814] Chr12:4912844 [GRCh38]
Chr12:5022010 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
NM_000217.3(KCNA1):c.80A>C (p.Gln27Pro) single nucleotide variant Inborn genetic diseases [RCV003253796] Chr12:4911458 [GRCh38]
Chr12:5020624 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.868_872delinsTC (p.Ile290_Leu291delinsSer) indel Episodic ataxia type 1 [RCV000559038] Chr12:4912246..4912250 [GRCh38]
Chr12:5021412..5021416 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.599G>C (p.Gly200Ala) single nucleotide variant Episodic ataxia type 1 [RCV000639377] Chr12:4911977 [GRCh38]
Chr12:5021143 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.224C>A (p.Pro75His) single nucleotide variant Episodic ataxia type 1 [RCV000560518]|Inborn genetic diseases [RCV001266289] Chr12:4911602 [GRCh38]
Chr12:5020768 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.87C>G (p.Asp29Glu) single nucleotide variant Inborn genetic diseases [RCV003253797] Chr12:4911465 [GRCh38]
Chr12:5020631 [GRCh37]
Chr12:12p13.32		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.32-13.31(chr12:4305058-6066141)x1 copy number loss not provided [RCV000683465] Chr12:4305058..6066141 [GRCh37]
Chr12:12p13.32-13.31		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.32(chr12:5013607-5391393)x3 copy number gain not provided [RCV000683426] Chr12:5013607..5391393 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1 copy number loss not provided [RCV000683475] Chr12:173786..6039841 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1 copy number loss not provided [RCV000683474] Chr12:173786..5952112 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1 copy number loss not provided [RCV000683476] Chr12:173786..6201932 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_000217.3(KCNA1):c.1449A>T (p.Gln483His) single nucleotide variant Episodic ataxia type 1 [RCV000802460]|not provided [RCV000712103] Chr12:4912827 [GRCh38]
Chr12:5021993 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1311T>G (p.Ser437=) single nucleotide variant Episodic ataxia type 1 [RCV003626636]|not provided [RCV000712100] Chr12:4912689 [GRCh38]
Chr12:5021855 [GRCh37]
Chr12:12p13.32		 likely benign|uncertain significance
NM_000217.3(KCNA1):c.1346T>C (p.Met449Thr) single nucleotide variant Episodic ataxia type 1 [RCV001861967]|Inborn genetic diseases [RCV002532927]|KCNA1-related disorder [RCV004547886]|not provided [RCV000712101] Chr12:4912724 [GRCh38]
Chr12:5021890 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.964A>C (p.Ser322Arg) single nucleotide variant Episodic ataxia type 1 [RCV000700644] Chr12:4912342 [GRCh38]
Chr12:5021508 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.559G>A (p.Glu187Lys) single nucleotide variant Episodic ataxia type 1 [RCV000695125] Chr12:4911937 [GRCh38]
Chr12:5021103 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.884G>A (p.Arg295His) single nucleotide variant Episodic ataxia type 1 [RCV001861968]|not provided [RCV000712107] Chr12:4912262 [GRCh38]
Chr12:5021428 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.475T>C (p.Tyr159His) single nucleotide variant Episodic ataxia type 1 [RCV001233194]|not provided [RCV000712104] Chr12:4911853 [GRCh38]
Chr12:5021019 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.12G>T (p.Met4Ile) single nucleotide variant not provided [RCV000712099] Chr12:4911390 [GRCh38]
Chr12:5020556 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1455C>A (p.Cys485Ter) single nucleotide variant Episodic ataxia type 1 [RCV000694631] Chr12:4912833 [GRCh38]
Chr12:5021999 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
NM_000217.3(KCNA1):c.135G>C (p.Gly45=) single nucleotide variant not provided [RCV000761813] Chr12:4911513 [GRCh38]
Chr12:5020679 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.415G>A (p.Glu139Lys) single nucleotide variant not provided [RCV000761814] Chr12:4911793 [GRCh38]
Chr12:5020959 [GRCh37]
Chr12:12p13.32		 uncertain significance
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31		 pathogenic|not provided
NM_000217.3(KCNA1):c.212G>A (p.Arg71His) single nucleotide variant Episodic ataxia type 1 [RCV001114819] Chr12:4911590 [GRCh38]
Chr12:5020756 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*2279G>A single nucleotide variant Episodic ataxia type 1 [RCV001115025] Chr12:4915145 [GRCh38]
Chr12:5024311 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.435C>T (p.Pro145=) single nucleotide variant Episodic ataxia type 1 [RCV001483793] Chr12:4911813 [GRCh38]
Chr12:5020979 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.687C>T (p.Ile229=) single nucleotide variant Episodic ataxia type 1 [RCV000973831] Chr12:4912065 [GRCh38]
Chr12:5021231 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.6G>T (p.Thr2=) single nucleotide variant Episodic ataxia type 1 [RCV002540014] Chr12:4911384 [GRCh38]
Chr12:5020550 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1428C>G (p.Ala476=) single nucleotide variant not provided [RCV000921638] Chr12:4912806 [GRCh38]
Chr12:5021972 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.933C>G (p.Gly311=) single nucleotide variant Episodic ataxia type 1 [RCV001498425] Chr12:4912311 [GRCh38]
Chr12:5021477 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.867C>T (p.Ala289=) single nucleotide variant Episodic ataxia type 1 [RCV000904595] Chr12:4912245 [GRCh38]
Chr12:5021411 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.654A>T (p.Thr218=) single nucleotide variant Episodic ataxia type 1 [RCV000959804] Chr12:4912032 [GRCh38]
Chr12:5021198 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.405C>T (p.Gly135=) single nucleotide variant Episodic ataxia type 1 [RCV001514799] Chr12:4911783 [GRCh38]
Chr12:5020949 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.596C>T (p.Thr199Met) single nucleotide variant Episodic ataxia type 1 [RCV001036830] Chr12:4911974 [GRCh38]
Chr12:5021140 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.934C>A (p.Leu312Ile) single nucleotide variant Episodic ataxia type 1 [RCV001035616] Chr12:4912312 [GRCh38]
Chr12:5021478 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.312G>T (p.Arg104Ser) single nucleotide variant Episodic ataxia type 1 [RCV001070533] Chr12:4911690 [GRCh38]
Chr12:5020856 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_000217.3(KCNA1):c.1458T>C (p.Val486=) single nucleotide variant Episodic ataxia type 1 [RCV002064801] Chr12:4912836 [GRCh38]
Chr12:5022002 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1338C>T (p.Ser446=) single nucleotide variant Episodic ataxia type 1 [RCV001462121] Chr12:4912716 [GRCh38]
Chr12:5021882 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.387G>A (p.Lys129=) single nucleotide variant Episodic ataxia type 1 [RCV000946392] Chr12:4911765 [GRCh38]
Chr12:5020931 [GRCh37]
Chr12:12p13.32		 likely benign
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_000217.3(KCNA1):c.341C>T (p.Ser114Phe) single nucleotide variant Episodic ataxia type 1 [RCV000819007] Chr12:4911719 [GRCh38]
Chr12:5020885 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1397C>A (p.Ala466Asp) single nucleotide variant Episodic ataxia type 1 [RCV000795802]|not provided [RCV004792476] Chr12:4912775 [GRCh38]
Chr12:5021941 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.61G>A (p.Asp21Asn) single nucleotide variant Episodic ataxia type 1 [RCV002550636]|Inborn genetic diseases [RCV004986727]|not provided [RCV000992234] Chr12:4911439 [GRCh38]
Chr12:5020605 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_000217.3(KCNA1):c.136C>A (p.Leu46Met) single nucleotide variant Episodic ataxia type 1 [RCV000792773]|Inborn genetic diseases [RCV003362939]|KCNA1-related disorder [RCV004549866]|not provided [RCV001289073]|not specified [RCV004997317] Chr12:4911514 [GRCh38]
Chr12:5020680 [GRCh37]
Chr12:12p13.32		 likely benign|uncertain significance
NM_000217.3(KCNA1):c.1207C>A (p.Pro403Thr) single nucleotide variant Episodic ataxia type 1 [RCV000798472] Chr12:4912585 [GRCh38]
Chr12:5021751 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.42C>T (p.Ala14=) single nucleotide variant Episodic ataxia type 1 [RCV000871150] Chr12:4911420 [GRCh38]
Chr12:5020586 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.30C>G (p.Asp10Glu) single nucleotide variant Episodic ataxia type 1 [RCV000795415] Chr12:4911408 [GRCh38]
Chr12:5020574 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*3862C>T single nucleotide variant Episodic ataxia type 1 [RCV001115124] Chr12:4916728 [GRCh38]
Chr12:5025894 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1 copy number loss not provided [RCV000847821] Chr12:173786..6346092 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_000217.3(KCNA1):c.*3467C>T single nucleotide variant Episodic ataxia type 1 [RCV001112165] Chr12:4916333 [GRCh38]
Chr12:5025499 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.933C>A (p.Gly311=) single nucleotide variant Episodic ataxia type 1 [RCV003514448]|not provided [RCV000992236] Chr12:4912311 [GRCh38]
Chr12:5021477 [GRCh37]
Chr12:12p13.32		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_000217.3(KCNA1):c.-99C>T single nucleotide variant Episodic ataxia type 1 [RCV001113417] Chr12:4911280 [GRCh38]
Chr12:5020446 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*1977C>T single nucleotide variant Episodic ataxia type 1 [RCV001112085] Chr12:4914843 [GRCh38]
Chr12:5024009 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.421G>A (p.Glu141Lys) single nucleotide variant Episodic ataxia type 1 [RCV001220112] Chr12:4911799 [GRCh38]
Chr12:5020965 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.757A>G (p.Ile253Val) single nucleotide variant Episodic ataxia type 1 [RCV001238769] Chr12:4912135 [GRCh38]
Chr12:5021301 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.888G>C (p.Leu296Phe) single nucleotide variant Episodic ataxia type 1 [RCV001240784] Chr12:4912266 [GRCh38]
Chr12:5021432 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.70T>C (p.Tyr24His) single nucleotide variant Episodic ataxia type 1 [RCV001221665]|Inborn genetic diseases [RCV004032424] Chr12:4911448 [GRCh38]
Chr12:5020614 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.2T>G (p.Met1Arg) single nucleotide variant Episodic ataxia type 1 [RCV001241850] Chr12:4911380 [GRCh38]
Chr12:5020546 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.32(chr12:5020545-5022032)x1 copy number loss not provided [RCV000995027] Chr12:5020545..5022032 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*947C>T single nucleotide variant Episodic ataxia type 1 [RCV001114925] Chr12:4913813 [GRCh38]
Chr12:5022979 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.-433C>G single nucleotide variant Episodic ataxia type 1 [RCV001111416] Chr12:4910946 [GRCh38]
Chr12:5020112 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*1832G>C single nucleotide variant Episodic ataxia type 1 [RCV001111608] Chr12:4914698 [GRCh38]
Chr12:5023864 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*1865C>G single nucleotide variant Episodic ataxia type 1 [RCV001111609] Chr12:4914731 [GRCh38]
Chr12:5023897 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.508G>A (p.Ala170Thr) single nucleotide variant not provided [RCV001093120] Chr12:4911886 [GRCh38]
Chr12:5021052 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*2848A>G single nucleotide variant Episodic ataxia type 1 [RCV001109390] Chr12:4915714 [GRCh38]
Chr12:5024880 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4422A>T single nucleotide variant Episodic ataxia type 1 [RCV001109495] Chr12:4917288 [GRCh38]
Chr12:5026454 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4432T>C single nucleotide variant Episodic ataxia type 1 [RCV001109496] Chr12:4917298 [GRCh38]
Chr12:5026464 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4477A>G single nucleotide variant Episodic ataxia type 1 [RCV001109498] Chr12:4917343 [GRCh38]
Chr12:5026509 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4591T>G single nucleotide variant Episodic ataxia type 1 [RCV001109499] Chr12:4917457 [GRCh38]
Chr12:5026623 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.*5340G>C single nucleotide variant Episodic ataxia type 1 [RCV001109595] Chr12:4918206 [GRCh38]
Chr12:5027372 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.162C>T (p.Thr54=) single nucleotide variant Episodic ataxia type 1 [RCV003104310] Chr12:4911540 [GRCh38]
Chr12:5020706 [GRCh37]
Chr12:12p13.32		 likely benign
NC_000012.11:g.(?_4368352)_(9027607_?)dup duplication Lymphoproliferative syndrome 2 [RCV003105682] Chr12:4368352..9027607 [GRCh37]
Chr12:12p13.32-13.31		 uncertain significance
NC_000012.11:g.(?_5020545)_(5155155_?)dup duplication Atrial fibrillation, familial, 7 [RCV003107612] Chr12:5020545..5155155 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.137T>C (p.Leu46Pro) single nucleotide variant not provided [RCV001552468] Chr12:4911515 [GRCh38]
Chr12:5020681 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1461T>C (p.Asn487=) single nucleotide variant Episodic ataxia type 1 [RCV001425723] Chr12:4912839 [GRCh38]
Chr12:5022005 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.570C>T (p.Pro190=) single nucleotide variant Episodic ataxia type 1 [RCV001414075] Chr12:4911948 [GRCh38]
Chr12:5021114 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1314C>T (p.Asp438=) single nucleotide variant not provided [RCV000933355] Chr12:4912692 [GRCh38]
Chr12:5021858 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1404T>C (p.Tyr468=) single nucleotide variant Episodic ataxia type 1 [RCV001425158] Chr12:4912782 [GRCh38]
Chr12:5021948 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1122A>C (p.Gly374=) single nucleotide variant Episodic ataxia type 1 [RCV001405944] Chr12:4912500 [GRCh38]
Chr12:5021666 [GRCh37]
Chr12:12p13.32		 likely benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NC_000012.12:g.(?_4911359)_(4912886_?)dup duplication Episodic ataxia type 1 [RCV001032121] Chr12:5020525..5022052 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.289C>A (p.Gln97Lys) single nucleotide variant Episodic ataxia type 1 [RCV001212684] Chr12:4911667 [GRCh38]
Chr12:5020833 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*3166G>C single nucleotide variant Episodic ataxia type 1 [RCV001111708] Chr12:4916032 [GRCh38]
Chr12:5025198 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.837C>A (p.Asn279Lys) single nucleotide variant not provided [RCV000992235] Chr12:4912215 [GRCh38]
Chr12:5021381 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-909A>G single nucleotide variant Episodic ataxia type 1 [RCV001114698] Chr12:4910103 [GRCh38]
Chr12:5019269 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*3728T>G single nucleotide variant Episodic ataxia type 1 [RCV001115123] Chr12:4916594 [GRCh38]
Chr12:5025760 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.757A>T (p.Ile253Phe) single nucleotide variant Episodic ataxia type 1 [RCV001227795] Chr12:4912135 [GRCh38]
Chr12:5021301 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.653C>G (p.Thr218Arg) single nucleotide variant Episodic ataxia type 1 [RCV001227873] Chr12:4912031 [GRCh38]
Chr12:5021197 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1453T>A (p.Cys485Ser) single nucleotide variant Episodic ataxia type 1 [RCV001221068] Chr12:4912831 [GRCh38]
Chr12:5021997 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.49G>C (p.Gly17Arg) single nucleotide variant Episodic ataxia type 1 [RCV001228030] Chr12:4911427 [GRCh38]
Chr12:5020593 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.480C>A (p.Pro160=) single nucleotide variant Episodic ataxia type 1 [RCV001478661] Chr12:4911858 [GRCh38]
Chr12:5021024 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1365G>T (p.Met455Ile) single nucleotide variant not provided [RCV001558412] Chr12:4912743 [GRCh38]
Chr12:5021909 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-420C>A single nucleotide variant Episodic ataxia type 1 [RCV001111417] Chr12:4910959 [GRCh38]
Chr12:5020125 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-196C>T single nucleotide variant Episodic ataxia type 1 [RCV001111418] Chr12:4911183 [GRCh38]
Chr12:5020349 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-638C>T single nucleotide variant Episodic ataxia type 1 [RCV001109076]|not provided [RCV004707538] Chr12:4910374 [GRCh38]
Chr12:5019540 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.-530A>G single nucleotide variant Episodic ataxia type 1 [RCV001109078] Chr12:4910849 [GRCh38]
Chr12:5020015 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1086T>C (p.Ala362=) single nucleotide variant Episodic ataxia type 1 [RCV001109177] Chr12:4912464 [GRCh38]
Chr12:5021630 [GRCh37]
Chr12:12p13.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_000217.3(KCNA1):c.*1236T>G single nucleotide variant Episodic ataxia type 1 [RCV001109279] Chr12:4914102 [GRCh38]
Chr12:5023268 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*2734G>A single nucleotide variant Episodic ataxia type 1 [RCV001109389] Chr12:4915600 [GRCh38]
Chr12:5024766 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.*2104C>T single nucleotide variant Episodic ataxia type 1 [RCV001112086] Chr12:4914970 [GRCh38]
Chr12:5024136 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*3225G>C single nucleotide variant Episodic ataxia type 1 [RCV001112164] Chr12:4916091 [GRCh38]
Chr12:5025257 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*377T>C single nucleotide variant Episodic ataxia type 1 [RCV001113502] Chr12:4913243 [GRCh38]
Chr12:5022409 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4972C>T single nucleotide variant Episodic ataxia type 1 [RCV001113608] Chr12:4917838 [GRCh38]
Chr12:5027004 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-628C>G single nucleotide variant Episodic ataxia type 1 [RCV001109077] Chr12:4910384 [GRCh38]
Chr12:5019550 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.794A>G (p.Tyr265Cys) single nucleotide variant Episodic ataxia type 1 [RCV001049355] Chr12:4912172 [GRCh38]
Chr12:5021338 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*3142A>G single nucleotide variant Episodic ataxia type 1 [RCV001111707] Chr12:4916008 [GRCh38]
Chr12:5025174 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*3225G>A single nucleotide variant Episodic ataxia type 1 [RCV001111709] Chr12:4916091 [GRCh38]
Chr12:5025257 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4739C>T single nucleotide variant Episodic ataxia type 1 [RCV001111792]|not provided [RCV004693678] Chr12:4917605 [GRCh38]
Chr12:5026771 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-143C>T single nucleotide variant Episodic ataxia type 1 [RCV001113416] Chr12:4911236 [GRCh38]
Chr12:5020402 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.19G>A (p.Glu7Lys) single nucleotide variant Episodic ataxia type 1 [RCV001113419]|not specified [RCV004800697] Chr12:4911397 [GRCh38]
Chr12:5020563 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1A>T (p.Met1Leu) single nucleotide variant Episodic ataxia type 1 [RCV001217763] Chr12:4911379 [GRCh38]
Chr12:5020545 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.585C>G (p.Asp195Glu) single nucleotide variant Episodic ataxia type 1 [RCV001061166] Chr12:4911963 [GRCh38]
Chr12:5021129 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1415A>G (p.Asn472Ser) single nucleotide variant Episodic ataxia type 1 [RCV001053938] Chr12:4912793 [GRCh38]
Chr12:5021959 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-1043C>T single nucleotide variant Episodic ataxia type 1 [RCV001114697]|not provided [RCV003393850] Chr12:4909969 [GRCh38]
Chr12:5019135 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.274A>G (p.Ile92Val) single nucleotide variant Episodic ataxia type 1 [RCV001114820] Chr12:4911652 [GRCh38]
Chr12:5020818 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4276C>T single nucleotide variant Episodic ataxia type 1 [RCV001115125] Chr12:4917142 [GRCh38]
Chr12:5026308 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.43G>T (p.Ala15Ser) single nucleotide variant Episodic ataxia type 1 [RCV001235151]|Inborn genetic diseases [RCV003263870] Chr12:4911421 [GRCh38]
Chr12:5020587 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.520G>A (p.Val174Ile) single nucleotide variant Episodic ataxia type 1 [RCV001232347]|not provided [RCV004809540] Chr12:4911898 [GRCh38]
Chr12:5021064 [GRCh37]
Chr12:12p13.32		 likely pathogenic|uncertain significance
NM_000217.3(KCNA1):c.931G>T (p.Gly311Cys) single nucleotide variant Episodic ataxia type 1 [RCV001230891] Chr12:4912309 [GRCh38]
Chr12:5021475 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1150G>A (p.Gly384Arg) single nucleotide variant Episodic ataxia type 1 [RCV001070525]|not provided [RCV004768855] Chr12:4912528 [GRCh38]
Chr12:5021694 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1325G>C (p.Ser442Thr) single nucleotide variant Episodic ataxia type 1 [RCV001202824] Chr12:4912703 [GRCh38]
Chr12:5021869 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1A>G (p.Met1Val) single nucleotide variant Episodic ataxia type 1 [RCV001113418] Chr12:4911379 [GRCh38]
Chr12:5020545 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.*5190C>T single nucleotide variant Episodic ataxia type 1 [RCV001113609] Chr12:4918056 [GRCh38]
Chr12:5027222 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-849T>A single nucleotide variant Episodic ataxia type 1 [RCV001109075] Chr12:4910163 [GRCh38]
Chr12:5019329 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.446A>G (p.Tyr149Cys) single nucleotide variant Episodic ataxia type 1 [RCV001109176] Chr12:4911824 [GRCh38]
Chr12:5020990 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*1320C>A single nucleotide variant Episodic ataxia type 1 [RCV001109280] Chr12:4914186 [GRCh38]
Chr12:5023352 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*1376T>C single nucleotide variant Episodic ataxia type 1 [RCV001109281] Chr12:4914242 [GRCh38]
Chr12:5023408 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*2488T>C single nucleotide variant Episodic ataxia type 1 [RCV001109388] Chr12:4915354 [GRCh38]
Chr12:5024520 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.*4447A>G single nucleotide variant Episodic ataxia type 1 [RCV001109497] Chr12:4917313 [GRCh38]
Chr12:5026479 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*4929G>T single nucleotide variant Episodic ataxia type 1 [RCV001111793] Chr12:4917795 [GRCh38]
Chr12:5026961 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.*2121T>C single nucleotide variant Episodic ataxia type 1 [RCV001112087] Chr12:4914987 [GRCh38]
Chr12:5024153 [GRCh37]
Chr12:12p13.32		 benign
NM_000217.3(KCNA1):c.1213C>G (p.Pro405Ala) single nucleotide variant Episodic ataxia type 1 [RCV002290674]|Inborn genetic diseases [RCV001266903] Chr12:4912591 [GRCh38]
Chr12:5021757 [GRCh37]
Chr12:12p13.32		 likely pathogenic
NC_000012.11:g.(?_4479509)_(6235003_?)dup duplication Episodic ataxia type 1 [RCV001294847] Chr12:4479509..6235003 [GRCh37]
Chr12:12p13.32-13.31		 uncertain significance
NM_000217.3(KCNA1):c.667A>G (p.Ile223Val) single nucleotide variant Episodic ataxia type 1 [RCV001303541]|not provided [RCV004998805] Chr12:4912045 [GRCh38]
Chr12:5021211 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1382T>C (p.Met461Thr) single nucleotide variant Episodic ataxia type 1 [RCV001343292] Chr12:4912760 [GRCh38]
Chr12:5021926 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.179A>G (p.Asn60Ser) single nucleotide variant Episodic ataxia type 1 [RCV001299600]|Inborn genetic diseases [RCV002541895] Chr12:4911557 [GRCh38]
Chr12:5020723 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.888G>T (p.Leu296Phe) single nucleotide variant Episodic ataxia type 1 [RCV001331075] Chr12:4912266 [GRCh38]
Chr12:5021432 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1363A>G (p.Met455Val) single nucleotide variant Episodic ataxia type 1 [RCV001321844] Chr12:4912741 [GRCh38]
Chr12:5021907 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.917C>G (p.Ser306Cys) single nucleotide variant Episodic ataxia type 1 [RCV001306801]|not provided [RCV004590311] Chr12:4912295 [GRCh38]
Chr12:5021461 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.732C>T (p.Pro244=) single nucleotide variant Episodic ataxia type 1 [RCV001433163] Chr12:4912110 [GRCh38]
Chr12:5021276 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1146A>C (p.Thr382=) single nucleotide variant Episodic ataxia type 1 [RCV001422585] Chr12:4912524 [GRCh38]
Chr12:5021690 [GRCh37]
Chr12:12p13.32		 likely benign
GRCh37/hg19 12p13.32(chr12:3619010-5221363) copy number loss Global developmental delay [RCV001352670] Chr12:3619010..5221363 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.1442C>T (p.Ala481Val) single nucleotide variant Episodic ataxia type 1 [RCV001360144] Chr12:4912820 [GRCh38]
Chr12:5021986 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1093T>C (p.Trp365Arg) single nucleotide variant Episodic ataxia type 1 [RCV001369736] Chr12:4912471 [GRCh38]
Chr12:5021637 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1187G>T (p.Gly396Val) single nucleotide variant Episodic ataxia type 1 [RCV001859333]|Episodic kinesigenic dyskinesia [RCV001449664] Chr12:4912565 [GRCh38]
Chr12:5021731 [GRCh37]
Chr12:12p13.32		 pathogenic|likely pathogenic
NM_000217.3(KCNA1):c.432G>C (p.Leu144=) single nucleotide variant Episodic ataxia type 1 [RCV002073106]|not specified [RCV001663767] Chr12:4911810 [GRCh38]
Chr12:5020976 [GRCh37]
Chr12:12p13.32		 benign|likely benign
NM_000217.3(KCNA1):c.995T>C (p.Phe332Ser) single nucleotide variant Episodic ataxia type 1 [RCV001360169] Chr12:4912373 [GRCh38]
Chr12:5021539 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.992T>G (p.Phe331Cys) single nucleotide variant Episodic ataxia type 1 [RCV001346621] Chr12:4912370 [GRCh38]
Chr12:5021536 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.451C>T (p.Arg151Cys) single nucleotide variant Episodic ataxia type 1 [RCV001323018]|not provided [RCV003229040] Chr12:4911829 [GRCh38]
Chr12:5020995 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.240C>T (p.Tyr80=) single nucleotide variant Episodic ataxia type 1 [RCV002070091]|not provided [RCV001289074] Chr12:4911618 [GRCh38]
Chr12:5020784 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.316G>A (p.Val106Ile) single nucleotide variant Episodic ataxia type 1 [RCV001365291] Chr12:4911694 [GRCh38]
Chr12:5020860 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.670G>T (p.Val224Leu) single nucleotide variant Episodic ataxia type 1 [RCV001347227] Chr12:4912048 [GRCh38]
Chr12:5021214 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1456G>A (p.Val486Ile) single nucleotide variant Episodic ataxia type 1 [RCV001370660] Chr12:4912834 [GRCh38]
Chr12:5022000 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1288G>C (p.Val430Leu) single nucleotide variant Episodic ataxia type 1 [RCV001367968]|not provided [RCV003227031] Chr12:4912666 [GRCh38]
Chr12:5021832 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1378G>T (p.Asp460Tyr) single nucleotide variant Episodic ataxia type 1 [RCV001363801] Chr12:4912756 [GRCh38]
Chr12:5021922 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1287C>G (p.His429Gln) single nucleotide variant Episodic ataxia type 1 [RCV001368462] Chr12:4912665 [GRCh38]
Chr12:5021831 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.361G>A (p.Glu121Lys) single nucleotide variant Episodic ataxia type 1 [RCV001313298]|not provided [RCV004793411] Chr12:4911739 [GRCh38]
Chr12:5020905 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1186G>C (p.Gly396Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001449665] Chr12:4912564 [GRCh38]
Chr12:5021730 [GRCh37]
Chr12:12p13.32		 likely pathogenic
NM_000217.3(KCNA1):c.644A>T (p.Asn215Ile) single nucleotide variant Episodic ataxia type 1 [RCV001316359] Chr12:4912022 [GRCh38]
Chr12:5021188 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.294C>T (p.Ser98=) single nucleotide variant Episodic ataxia type 1 [RCV001412667] Chr12:4911672 [GRCh38]
Chr12:5020838 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.641C>T (p.Ser214Phe) single nucleotide variant Episodic ataxia type 1 [RCV001294866] Chr12:4912019 [GRCh38]
Chr12:5021185 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.888G>A (p.Leu296=) single nucleotide variant Episodic ataxia type 1 [RCV001494761] Chr12:4912266 [GRCh38]
Chr12:5021432 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1328G>A (p.Arg443His) single nucleotide variant Episodic ataxia type 1 [RCV001365870] Chr12:4912706 [GRCh38]
Chr12:5021872 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.396G>A (p.Glu132=) single nucleotide variant Episodic ataxia type 1 [RCV001462211] Chr12:4911774 [GRCh38]
Chr12:5020940 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1371C>A (p.Ile457=) single nucleotide variant Episodic ataxia type 1 [RCV001472133] Chr12:4912749 [GRCh38]
Chr12:5021915 [GRCh37]
Chr12:12p13.32		 likely benign
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_000217.3(KCNA1):c.315G>A (p.Pro105=) single nucleotide variant Episodic ataxia type 1 [RCV001438623] Chr12:4911693 [GRCh38]
Chr12:5020859 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1015C>T (p.Leu339=) single nucleotide variant Episodic ataxia type 1 [RCV001438999]|KCNA1-related disorder [RCV004550170]|not provided [RCV003394053] Chr12:4912393 [GRCh38]
Chr12:5021559 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.893G>C (p.Arg298Thr) single nucleotide variant not provided [RCV001532204] Chr12:4912271 [GRCh38]
Chr12:5021437 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1353G>A (p.Lys451=) single nucleotide variant Episodic ataxia type 1 [RCV001407518] Chr12:4912731 [GRCh38]
Chr12:5021897 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.927T>G (p.Ser309=) single nucleotide variant Episodic ataxia type 1 [RCV001405530] Chr12:4912305 [GRCh38]
Chr12:5021471 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.399C>T (p.Asp133=) single nucleotide variant Episodic ataxia type 1 [RCV001434973] Chr12:4911777 [GRCh38]
Chr12:5020943 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.24C>T (p.Asn8=) single nucleotide variant Episodic ataxia type 1 [RCV001445443] Chr12:4911402 [GRCh38]
Chr12:5020568 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.858C>T (p.Thr286=) single nucleotide variant Episodic ataxia type 1 [RCV001416473] Chr12:4912236 [GRCh38]
Chr12:5021402 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1209C>T (p.Pro403=) single nucleotide variant Episodic ataxia type 1 [RCV001438530] Chr12:4912587 [GRCh38]
Chr12:5021753 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.699C>T (p.Ser233=) single nucleotide variant Episodic ataxia type 1 [RCV001451409] Chr12:4912077 [GRCh38]
Chr12:5021243 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.943C>T (p.Leu315=) single nucleotide variant Episodic ataxia type 1 [RCV001484170]|KCNA1-related disorder [RCV004738319] Chr12:4912321 [GRCh38]
Chr12:5021487 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1080C>T (p.Pro360=) single nucleotide variant Episodic ataxia type 1 [RCV001468070] Chr12:4912458 [GRCh38]
Chr12:5021624 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.600C>G (p.Gly200=) single nucleotide variant Episodic ataxia type 1 [RCV001473143] Chr12:4911978 [GRCh38]
Chr12:5021144 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.603C>G (p.Thr201=) single nucleotide variant Episodic ataxia type 1 [RCV001482047] Chr12:4911981 [GRCh38]
Chr12:5021147 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1420A>C (p.Arg474=) single nucleotide variant Episodic ataxia type 1 [RCV001486297] Chr12:4912798 [GRCh38]
Chr12:5021964 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.507C>T (p.Ile169=) single nucleotide variant Episodic ataxia type 1 [RCV001477907] Chr12:4911885 [GRCh38]
Chr12:5021051 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1425T>A (p.Thr475=) single nucleotide variant Episodic ataxia type 1 [RCV001491204] Chr12:4912803 [GRCh38]
Chr12:5021969 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1047G>A (p.Ala349=) single nucleotide variant Episodic ataxia type 1 [RCV001461662] Chr12:4912425 [GRCh38]
Chr12:5021591 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.435C>G (p.Pro145=) single nucleotide variant Episodic ataxia type 1 [RCV001476510] Chr12:4911813 [GRCh38]
Chr12:5020979 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1026T>C (p.Ser342=) single nucleotide variant Episodic ataxia type 1 [RCV001437170] Chr12:4912404 [GRCh38]
Chr12:5021570 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.324G>A (p.Val108=) single nucleotide variant Episodic ataxia type 1 [RCV001426708] Chr12:4911702 [GRCh38]
Chr12:5020868 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.18G>C (p.Gly6=) single nucleotide variant Episodic ataxia type 1 [RCV001502796] Chr12:4911396 [GRCh38]
Chr12:5020562 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.321C>T (p.Asn107=) single nucleotide variant Episodic ataxia type 1 [RCV003094149]|See cases [RCV002252518] Chr12:4911699 [GRCh38]
Chr12:5020865 [GRCh37]
Chr12:12p13.32		 likely benign|uncertain significance
NM_000217.3(KCNA1):c.38C>T (p.Ser13Leu) single nucleotide variant not provided [RCV001757559] Chr12:4911416 [GRCh38]
Chr12:5020582 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.47dup (p.His18fs) duplication not provided [RCV001759122] Chr12:4911421..4911422 [GRCh38]
Chr12:5020587..5020588 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.94G>C (p.Asp32His) single nucleotide variant Episodic ataxia type 1 [RCV005095079]|not provided [RCV001753242] Chr12:4911472 [GRCh38]
Chr12:5020638 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_000217.3(KCNA1):c.702C>A (p.Phe234Leu) single nucleotide variant Episodic ataxia type 1 [RCV001868712]|not provided [RCV001759224] Chr12:4912080 [GRCh38]
Chr12:5021246 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.729C>A (p.Cys243Ter) single nucleotide variant KCNA1-related disorder [RCV001795575] Chr12:4912107 [GRCh38]
Chr12:5021273 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.94G>T (p.Asp32Tyr) single nucleotide variant Episodic ataxia type 1 [RCV005095067]|not provided [RCV001757641]|not specified [RCV004699463] Chr12:4911472 [GRCh38]
Chr12:5020638 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.725C>T (p.Ala242Val) single nucleotide variant not provided [RCV004798636] Chr12:4912103 [GRCh38]
Chr12:5021269 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.35C>T (p.Ala12Val) single nucleotide variant Episodic ataxia type 1 [RCV001927719] Chr12:4911413 [GRCh38]
Chr12:5020579 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.351C>T (p.Ile117=) single nucleotide variant Episodic ataxia type 1 [RCV001873110] Chr12:4911729 [GRCh38]
Chr12:5020895 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.101_102insCGTCCACGA (p.His33_Glu34insAspValHis) insertion Episodic ataxia type 1 [RCV001895991] Chr12:4911473..4911474 [GRCh38]
Chr12:5020639..5020640 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.38C>A (p.Ser13Ter) single nucleotide variant Episodic ataxia type 1 [RCV002044379] Chr12:4911416 [GRCh38]
Chr12:5020582 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.159G>C (p.Lys53Asn) single nucleotide variant Episodic ataxia type 1 [RCV002024483] Chr12:4911537 [GRCh38]
Chr12:5020703 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.14C>T (p.Ser5Phe) single nucleotide variant Episodic ataxia type 1 [RCV001971009] Chr12:4911392 [GRCh38]
Chr12:5020558 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.846C>T (p.Gly282=) single nucleotide variant Episodic ataxia type 1 [RCV001948691] Chr12:4912224 [GRCh38]
Chr12:5021390 [GRCh37]
Chr12:12p13.32		 likely benign|uncertain significance
NM_000217.3(KCNA1):c.97C>T (p.His33Tyr) single nucleotide variant Episodic ataxia type 1 [RCV001895752] Chr12:4911475 [GRCh38]
Chr12:5020641 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_000217.3(KCNA1):c.1061C>T (p.Ser354Leu) single nucleotide variant Episodic ataxia type 1 [RCV001986183] Chr12:4912439 [GRCh38]
Chr12:5021605 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.380T>C (p.Met127Thr) single nucleotide variant Episodic ataxia type 1 [RCV001948066] Chr12:4911758 [GRCh38]
Chr12:5020924 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_000217.3(KCNA1):c.709G>A (p.Val237Met) single nucleotide variant Episodic ataxia type 1 [RCV001889953] Chr12:4912087 [GRCh38]
Chr12:5021253 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.2T>C (p.Met1Thr) single nucleotide variant Episodic ataxia type 1 [RCV002003026] Chr12:4911380 [GRCh38]
Chr12:5020546 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700) copy number loss not specified [RCV002052963] Chr12:2790077..5325700 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
NM_000217.3(KCNA1):c.1201G>A (p.Ala401Thr) single nucleotide variant Episodic ataxia type 1 [RCV002007815] Chr12:4912579 [GRCh38]
Chr12:5021745 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
NM_000217.3(KCNA1):c.702C>T (p.Phe234=) single nucleotide variant Episodic ataxia type 1 [RCV001945920] Chr12:4912080 [GRCh38]
Chr12:5021246 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.424C>A (p.Arg142Ser) single nucleotide variant Episodic ataxia type 1 [RCV001890600] Chr12:4911802 [GRCh38]
Chr12:5020968 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1121G>C (p.Gly374Ala) single nucleotide variant Episodic ataxia type 1 [RCV001966132] Chr12:4912499 [GRCh38]
Chr12:5021665 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1430A>G (p.Asn477Ser) single nucleotide variant Episodic ataxia type 1 [RCV002039283] Chr12:4912808 [GRCh38]
Chr12:5021974 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.496G>A (p.Ala166Thr) single nucleotide variant Episodic ataxia type 1 [RCV001888583] Chr12:4911874 [GRCh38]
Chr12:5021040 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1298C>G (p.Pro433Arg) single nucleotide variant Episodic ataxia type 1 [RCV001951994] Chr12:4912676 [GRCh38]
Chr12:5021842 [GRCh37]
Chr12:12p13.32		 uncertain significance
NC_000012.11:g.(?_4481740)_(6076855_?)dup duplication not provided [RCV001944242] Chr12:4481740..6076855 [GRCh37]
Chr12:12p13.32-13.31		 uncertain significance
NM_000217.3(KCNA1):c.1400A>G (p.His467Arg) single nucleotide variant Episodic ataxia type 1 [RCV001888196] Chr12:4912778 [GRCh38]
Chr12:5021944 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.872T>C (p.Leu291Pro) single nucleotide variant Episodic ataxia type 1 [RCV002038625] Chr12:4912250 [GRCh38]
Chr12:5021416 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.206G>C (p.Arg69Pro) single nucleotide variant Episodic ataxia type 1 [RCV001998316] Chr12:4911584 [GRCh38]
Chr12:5020750 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1327C>T (p.Arg443Cys) single nucleotide variant Episodic ataxia type 1 [RCV001999616] Chr12:4912705 [GRCh38]
Chr12:5021871 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.410T>C (p.Ile137Thr) single nucleotide variant Episodic ataxia type 1 [RCV001885875]|not provided [RCV004770251] Chr12:4911788 [GRCh38]
Chr12:5020954 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1126G>A (p.Gly376Ser) single nucleotide variant Episodic ataxia type 1 [RCV001918958] Chr12:4912504 [GRCh38]
Chr12:5021670 [GRCh37]
Chr12:12p13.32		 pathogenic|uncertain significance
NM_000217.3(KCNA1):c.1333A>G (p.Ser445Gly) single nucleotide variant Episodic ataxia type 1 [RCV002049284]|not provided [RCV003481138] Chr12:4912711 [GRCh38]
Chr12:5021877 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.337T>A (p.Phe113Ile) single nucleotide variant Episodic ataxia type 1 [RCV001876538] Chr12:4911715 [GRCh38]
Chr12:5020881 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.850C>T (p.Gln284Ter) single nucleotide variant Episodic ataxia type 1 [RCV001994622] Chr12:4912228 [GRCh38]
Chr12:5021394 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.825G>T (p.Glu275Asp) single nucleotide variant Episodic ataxia type 1 [RCV001903497] Chr12:4912203 [GRCh38]
Chr12:5021369 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.16G>A (p.Gly6Arg) single nucleotide variant Episodic ataxia type 1 [RCV001973645] Chr12:4911394 [GRCh38]
Chr12:5020560 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1372G>T (p.Glu458Ter) single nucleotide variant Episodic ataxia type 1 [RCV001933941] Chr12:4912750 [GRCh38]
Chr12:5021916 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1477A>G (p.Thr493Ala) single nucleotide variant Episodic ataxia type 1 [RCV001996123] Chr12:4912855 [GRCh38]
Chr12:5022021 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1046C>A (p.Ala349Glu) single nucleotide variant Episodic ataxia type 1 [RCV001921215] Chr12:4912424 [GRCh38]
Chr12:5021590 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.928A>G (p.Lys310Glu) single nucleotide variant Episodic ataxia type 1 [RCV001884285] Chr12:4912306 [GRCh38]
Chr12:5021472 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.445T>C (p.Tyr149His) single nucleotide variant Episodic ataxia type 1 [RCV002016035] Chr12:4911823 [GRCh38]
Chr12:5020989 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.991T>A (p.Phe331Ile) single nucleotide variant Episodic ataxia type 1 [RCV002017324] Chr12:4912369 [GRCh38]
Chr12:5021535 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.635A>G (p.Tyr212Cys) single nucleotide variant Episodic ataxia type 1 [RCV001883511] Chr12:4912013 [GRCh38]
Chr12:5021179 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.145G>C (p.Glu49Gln) single nucleotide variant Episodic ataxia type 1 [RCV002035758]|not provided [RCV004598172] Chr12:4911523 [GRCh38]
Chr12:5020689 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.495C>T (p.Pro165=) single nucleotide variant Episodic ataxia type 1 [RCV001960742]|KCNA1-related disorder [RCV004552133] Chr12:4911873 [GRCh38]
Chr12:5021039 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.214T>C (p.Tyr72His) single nucleotide variant Episodic ataxia type 1 [RCV002035070] Chr12:4911592 [GRCh38]
Chr12:5020758 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1320C>A (p.Asp440Glu) single nucleotide variant Episodic ataxia type 1 [RCV002019010] Chr12:4912698 [GRCh38]
Chr12:5021864 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.404G>C (p.Gly135Ala) single nucleotide variant Episodic ataxia type 1 [RCV001956582]|not provided [RCV004762281] Chr12:4911782 [GRCh38]
Chr12:5020948 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.24C>G (p.Asn8Lys) single nucleotide variant Episodic ataxia type 1 [RCV001865061] Chr12:4911402 [GRCh38]
Chr12:5020568 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.6G>A (p.Thr2=) single nucleotide variant Episodic ataxia type 1 [RCV001955161] Chr12:4911384 [GRCh38]
Chr12:5020550 [GRCh37]
Chr12:12p13.32		 likely benign|uncertain significance
NM_000217.3(KCNA1):c.631A>G (p.Ile211Val) single nucleotide variant Episodic ataxia type 1 [RCV001920018]|Inborn genetic diseases [RCV004631801] Chr12:4912009 [GRCh38]
Chr12:5021175 [GRCh37]
Chr12:12p13.32		 likely benign|uncertain significance
NM_000217.3(KCNA1):c.1422A>C (p.Arg474Ser) single nucleotide variant Episodic ataxia type 1 [RCV001954196] Chr12:4912800 [GRCh38]
Chr12:5021966 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.990C>A (p.Ile330=) single nucleotide variant Episodic ataxia type 1 [RCV002128018] Chr12:4912368 [GRCh38]
Chr12:5021534 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.342C>T (p.Ser114=) single nucleotide variant Episodic ataxia type 1 [RCV002092774]|KCNA1-related disorder [RCV004738509] Chr12:4911720 [GRCh38]
Chr12:5020886 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.516C>T (p.Val172=) single nucleotide variant Episodic ataxia type 1 [RCV002085643] Chr12:4911894 [GRCh38]
Chr12:5021060 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.423G>A (p.Glu141=) single nucleotide variant Episodic ataxia type 1 [RCV002084870] Chr12:4911801 [GRCh38]
Chr12:5020967 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.450G>A (p.Gln150=) single nucleotide variant Episodic ataxia type 1 [RCV002144724] Chr12:4911828 [GRCh38]
Chr12:5020994 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1401T>C (p.His467=) single nucleotide variant Episodic ataxia type 1 [RCV002107792] Chr12:4912779 [GRCh38]
Chr12:5021945 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.408C>T (p.Phe136=) single nucleotide variant Episodic ataxia type 1 [RCV002095326] Chr12:4911786 [GRCh38]
Chr12:5020952 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1041C>T (p.Ala347=) single nucleotide variant Episodic ataxia type 1 [RCV002117294] Chr12:4912419 [GRCh38]
Chr12:5021585 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.468C>T (p.Leu156=) single nucleotide variant Episodic ataxia type 1 [RCV002150496] Chr12:4911846 [GRCh38]
Chr12:5021012 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.645C>T (p.Asn215=) single nucleotide variant Episodic ataxia type 1 [RCV002113455] Chr12:4912023 [GRCh38]
Chr12:5021189 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1224G>A (p.Val408=) single nucleotide variant Episodic ataxia type 1 [RCV002174095] Chr12:4912602 [GRCh38]
Chr12:5021768 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.564G>T (p.Thr188=) single nucleotide variant Episodic ataxia type 1 [RCV002094650] Chr12:4911942 [GRCh38]
Chr12:5021108 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.297C>T (p.Gly99=) single nucleotide variant Episodic ataxia type 1 [RCV002109452] Chr12:4911675 [GRCh38]
Chr12:5020841 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1437C>T (p.Thr479=) single nucleotide variant Episodic ataxia type 1 [RCV002130724] Chr12:4912815 [GRCh38]
Chr12:5021981 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.783C>T (p.Ala261=) single nucleotide variant Episodic ataxia type 1 [RCV002112880] Chr12:4912161 [GRCh38]
Chr12:5021327 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.267C>T (p.Phe89=) single nucleotide variant Episodic ataxia type 1 [RCV002078588] Chr12:4911645 [GRCh38]
Chr12:5020811 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1192C>T (p.Leu398=) single nucleotide variant Episodic ataxia type 1 [RCV002199357] Chr12:4912570 [GRCh38]
Chr12:5021736 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1167C>A (p.Gly389=) single nucleotide variant Episodic ataxia type 1 [RCV002179044] Chr12:4912545 [GRCh38]
Chr12:5021711 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.804G>T (p.Thr268=) single nucleotide variant Episodic ataxia type 1 [RCV002098662] Chr12:4912182 [GRCh38]
Chr12:5021348 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.435C>A (p.Pro145=) single nucleotide variant Episodic ataxia type 1 [RCV002082513]|not specified [RCV004587296] Chr12:4911813 [GRCh38]
Chr12:5020979 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.489G>A (p.Ser163=) single nucleotide variant Episodic ataxia type 1 [RCV002219838] Chr12:4911867 [GRCh38]
Chr12:5021033 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1221T>C (p.Ile407=) single nucleotide variant Episodic ataxia type 1 [RCV002120992] Chr12:4912599 [GRCh38]
Chr12:5021765 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.999C>T (p.Leu333=) single nucleotide variant Episodic ataxia type 1 [RCV002163585] Chr12:4912377 [GRCh38]
Chr12:5021543 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.279C>T (p.Leu93=) single nucleotide variant Episodic ataxia type 1 [RCV002201181] Chr12:4911657 [GRCh38]
Chr12:5020823 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.849G>A (p.Glu283=) single nucleotide variant Episodic ataxia type 1 [RCV002182424] Chr12:4912227 [GRCh38]
Chr12:5021393 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1431T>C (p.Asn477=) single nucleotide variant Episodic ataxia type 1 [RCV002163031] Chr12:4912809 [GRCh38]
Chr12:5021975 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.909C>T (p.Phe303=) single nucleotide variant Episodic ataxia type 1 [RCV002217229] Chr12:4912287 [GRCh38]
Chr12:5021453 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.483G>A (p.Glu161=) single nucleotide variant Episodic ataxia type 1 [RCV002203774] Chr12:4911861 [GRCh38]
Chr12:5021027 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1377G>A (p.Glu459=) single nucleotide variant Episodic ataxia type 1 [RCV002181746] Chr12:4912755 [GRCh38]
Chr12:5021921 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.208A>G (p.Met70Val) single nucleotide variant Episodic ataxia type 1 [RCV003626695]|not provided [RCV002222789] Chr12:4911586 [GRCh38]
Chr12:5020752 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.-540+1G>T single nucleotide variant not provided [RCV004787501] Chr12:4910473 [GRCh38]
Chr12:5019639 [GRCh37]
Chr12:12p13.32		 uncertain significance
NC_000012.11:g.(?_5020545)_(5155155_?)del deletion Atrial fibrillation, familial, 7 [RCV004579590]|Episodic ataxia type 1 [RCV003122187] Chr12:5020545..5155155 [GRCh37]
Chr12:12p13.32		 uncertain significance
NC_000012.11:g.(?_4368352)_(5155155_?)dup duplication Episodic ataxia type 1 [RCV003122188] Chr12:4368352..5155155 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.730C>T (p.Pro244Ser) single nucleotide variant Episodic ataxia type 1 [RCV004787559] Chr12:4912108 [GRCh38]
Chr12:5021274 [GRCh37]
Chr12:12p13.32		 likely pathogenic
NM_000217.3(KCNA1):c.25G>A (p.Val9Met) single nucleotide variant Episodic ataxia type 1 [RCV005102613]|Inborn genetic diseases [RCV003276676] Chr12:4911403 [GRCh38]
Chr12:5020569 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.191G>A (p.Gly64Asp) single nucleotide variant not provided [RCV002275491] Chr12:4911569 [GRCh38]
Chr12:5020735 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.785T>C (p.Ile262Thr) single nucleotide variant Episodic ataxia type 1 [RCV002271791]|not provided [RCV003482403] Chr12:4912163 [GRCh38]
Chr12:5021329 [GRCh37]
Chr12:12p13.32		 pathogenic|likely pathogenic
NM_000217.3(KCNA1):c.*1242T>G single nucleotide variant not provided [RCV002292849] Chr12:4914108 [GRCh38]
Chr12:5023274 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.460T>G (p.Trp154Gly) single nucleotide variant Episodic ataxia type 1 [RCV002294584]|not provided [RCV005096093] Chr12:4911838 [GRCh38]
Chr12:5021004 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.755A>T (p.Asn252Ile) single nucleotide variant Episodic ataxia type 1 [RCV002289241] Chr12:4912133 [GRCh38]
Chr12:5021299 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.976C>G (p.Leu326Val) single nucleotide variant not provided [RCV003234314] Chr12:4912354 [GRCh38]
Chr12:5021520 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1366G>C (p.Glu456Gln) single nucleotide variant not provided [RCV003236092] Chr12:4912744 [GRCh38]
Chr12:5021910 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.847G>A (p.Glu283Lys) single nucleotide variant Episodic ataxia type 1 [RCV002267675] Chr12:4912225 [GRCh38]
Chr12:5021391 [GRCh37]
Chr12:12p13.32		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000217.3(KCNA1):c.985C>A (p.Leu329Ile) single nucleotide variant Episodic ataxia type 1 [RCV002472214] Chr12:4912363 [GRCh38]
Chr12:5021529 [GRCh37]
Chr12:12p13.32		 likely pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 copy number gain not provided [RCV002472514] Chr12:173787..8320544 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_000217.3(KCNA1):c.43G>A (p.Ala15Thr) single nucleotide variant Episodic ataxia type 1 [RCV002294833] Chr12:4911421 [GRCh38]
Chr12:5020587 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.755A>G (p.Asn252Ser) single nucleotide variant Episodic ataxia type 1 [RCV002296643] Chr12:4912133 [GRCh38]
Chr12:5021299 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1366G>A (p.Glu456Lys) single nucleotide variant Episodic ataxia type 1 [RCV002298032] Chr12:4912744 [GRCh38]
Chr12:5021910 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1258G>C (p.Glu420Gln) single nucleotide variant Episodic ataxia type 1 [RCV002295100] Chr12:4912636 [GRCh38]
Chr12:5021802 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1034A>G (p.Tyr345Cys) single nucleotide variant Episodic ataxia type 1 [RCV002775039] Chr12:4912412 [GRCh38]
Chr12:5021578 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1297C>T (p.Pro433Ser) single nucleotide variant Episodic ataxia type 1 [RCV003073554] Chr12:4912675 [GRCh38]
Chr12:5021841 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.340T>A (p.Ser114Thr) single nucleotide variant Episodic ataxia type 1 [RCV002775316] Chr12:4911718 [GRCh38]
Chr12:5020884 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1347G>A (p.Met449Ile) single nucleotide variant Episodic ataxia type 1 [RCV002904540]|not provided [RCV003128874] Chr12:4912725 [GRCh38]
Chr12:5021891 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.139C>A (p.Arg47Ser) single nucleotide variant Episodic ataxia type 1 [RCV003076816] Chr12:4911517 [GRCh38]
Chr12:5020683 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.727T>G (p.Cys243Gly) single nucleotide variant Episodic ataxia type 1 [RCV002975592] Chr12:4912105 [GRCh38]
Chr12:5021271 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1277A>G (p.Gln426Arg) single nucleotide variant Episodic ataxia type 1 [RCV003035193] Chr12:4912655 [GRCh38]
Chr12:5021821 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.999C>A (p.Leu333=) single nucleotide variant Episodic ataxia type 1 [RCV002838776] Chr12:4912377 [GRCh38]
Chr12:5021543 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.250C>G (p.Arg84Gly) single nucleotide variant Episodic ataxia type 1 [RCV003016203] Chr12:4911628 [GRCh38]
Chr12:5020794 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1260G>C (p.Glu420Asp) single nucleotide variant Episodic ataxia type 1 [RCV003075701] Chr12:4912638 [GRCh38]
Chr12:5021804 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.781G>A (p.Ala261Thr) single nucleotide variant not provided [RCV002511721] Chr12:4912159 [GRCh38]
Chr12:5021325 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.48G>A (p.Pro16=) single nucleotide variant Episodic ataxia type 1 [RCV002730297] Chr12:4911426 [GRCh38]
Chr12:5020592 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.420G>A (p.Glu140=) single nucleotide variant Episodic ataxia type 1 [RCV002617711] Chr12:4911798 [GRCh38]
Chr12:5020964 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.401A>G (p.Glu134Gly) single nucleotide variant Episodic ataxia type 1 [RCV003016124] Chr12:4911779 [GRCh38]
Chr12:5020945 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.322G>C (p.Val108Leu) single nucleotide variant Episodic ataxia type 1 [RCV003002095] Chr12:4911700 [GRCh38]
Chr12:5020866 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.511A>G (p.Ile171Val) single nucleotide variant Episodic ataxia type 1 [RCV003036405] Chr12:4911889 [GRCh38]
Chr12:5021055 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.480C>T (p.Pro160=) single nucleotide variant Episodic ataxia type 1 [RCV002740009] Chr12:4911858 [GRCh38]
Chr12:5021024 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.644A>G (p.Asn215Ser) single nucleotide variant Episodic ataxia type 1 [RCV002705634] Chr12:4912022 [GRCh38]
Chr12:5021188 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.436G>T (p.Glu146Ter) single nucleotide variant Episodic ataxia type 1 [RCV002927711] Chr12:4911814 [GRCh38]
Chr12:5020980 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.558G>A (p.Leu186=) single nucleotide variant Episodic ataxia type 1 [RCV003020205] Chr12:4911936 [GRCh38]
Chr12:5021102 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.255C>T (p.Asn85=) single nucleotide variant Episodic ataxia type 1 [RCV002637996] Chr12:4911633 [GRCh38]
Chr12:5020799 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.325C>T (p.Pro109Ser) single nucleotide variant Episodic ataxia type 1 [RCV002636309] Chr12:4911703 [GRCh38]
Chr12:5020869 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1260G>A (p.Glu420=) single nucleotide variant Episodic ataxia type 1 [RCV002885695] Chr12:4912638 [GRCh38]
Chr12:5021804 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.430C>G (p.Leu144Val) single nucleotide variant Episodic ataxia type 1 [RCV003078427] Chr12:4911808 [GRCh38]
Chr12:5020974 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.827A>G (p.Gln276Arg) single nucleotide variant Episodic ataxia type 1 [RCV002695271] Chr12:4912205 [GRCh38]
Chr12:5021371 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.577A>G (p.Lys193Glu) single nucleotide variant Episodic ataxia type 1 [RCV002952383] Chr12:4911955 [GRCh38]
Chr12:5021121 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1395A>C (p.Ile465=) single nucleotide variant Episodic ataxia type 1 [RCV002823715] Chr12:4912773 [GRCh38]
Chr12:5021939 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.741G>T (p.Thr247=) single nucleotide variant Episodic ataxia type 1 [RCV003080482] Chr12:4912119 [GRCh38]
Chr12:5021285 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.122T>C (p.Ile41Thr) single nucleotide variant Inborn genetic diseases [RCV002802298] Chr12:4911500 [GRCh38]
Chr12:5020666 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.260C>G (p.Pro87Arg) single nucleotide variant Episodic ataxia type 1 [RCV002645736] Chr12:4911638 [GRCh38]
Chr12:5020804 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1229A>C (p.Asn410Thr) single nucleotide variant Episodic ataxia type 1 [RCV002791241] Chr12:4912607 [GRCh38]
Chr12:5021773 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.985C>T (p.Leu329Phe) single nucleotide variant Episodic ataxia type 1 [RCV002791441] Chr12:4912363 [GRCh38]
Chr12:5021529 [GRCh37]
Chr12:12p13.32		 likely pathogenic
NM_000217.3(KCNA1):c.953C>T (p.Thr318Ile) single nucleotide variant Episodic ataxia type 1 [RCV003043465] Chr12:4912331 [GRCh38]
Chr12:5021497 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1137C>T (p.Tyr379=) single nucleotide variant Episodic ataxia type 1 [RCV003084031] Chr12:4912515 [GRCh38]
Chr12:5021681 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.887T>C (p.Leu296Ser) single nucleotide variant not provided [RCV002508514] Chr12:4912265 [GRCh38]
Chr12:5021431 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.756C>T (p.Asn252=) single nucleotide variant Episodic ataxia type 1 [RCV002624076] Chr12:4912134 [GRCh38]
Chr12:5021300 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.438G>A (p.Glu146=) single nucleotide variant Episodic ataxia type 1 [RCV002595491] Chr12:4911816 [GRCh38]
Chr12:5020982 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.84C>T (p.Ala28=) single nucleotide variant Episodic ataxia type 1 [RCV002594353] Chr12:4911462 [GRCh38]
Chr12:5020628 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1393A>G (p.Ile465Val) single nucleotide variant Episodic ataxia type 1 [RCV002918157] Chr12:4912771 [GRCh38]
Chr12:5021937 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.297C>G (p.Gly99=) single nucleotide variant Episodic ataxia type 1 [RCV002624294] Chr12:4911675 [GRCh38]
Chr12:5020841 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1005C>A (p.Ile335=) single nucleotide variant Episodic ataxia type 1 [RCV002643884] Chr12:4912383 [GRCh38]
Chr12:5021549 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1456G>T (p.Val486Phe) single nucleotide variant Episodic ataxia type 1 [RCV002594673] Chr12:4912834 [GRCh38]
Chr12:5022000 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.44C>T (p.Ala15Val) single nucleotide variant Episodic ataxia type 1 [RCV002800709] Chr12:4911422 [GRCh38]
Chr12:5020588 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.984G>T (p.Leu328=) single nucleotide variant Episodic ataxia type 1 [RCV002632948] Chr12:4912362 [GRCh38]
Chr12:5021528 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1306G>C (p.Ala436Pro) single nucleotide variant Episodic ataxia type 1 [RCV003049393] Chr12:4912684 [GRCh38]
Chr12:5021850 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1003A>T (p.Ile335Phe) single nucleotide variant Episodic ataxia type 1 [RCV002811951] Chr12:4912381 [GRCh38]
Chr12:5021547 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.771A>T (p.Ile257=) single nucleotide variant Episodic ataxia type 1 [RCV003060985] Chr12:4912149 [GRCh38]
Chr12:5021315 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.60G>A (p.Gln20=) single nucleotide variant Episodic ataxia type 1 [RCV003087747] Chr12:4911438 [GRCh38]
Chr12:5020604 [GRCh37]
Chr12:12p13.32		 likely benign|uncertain significance
NM_000217.3(KCNA1):c.1381A>G (p.Met461Val) single nucleotide variant Episodic ataxia type 1 [RCV002581680] Chr12:4912759 [GRCh38]
Chr12:5021925 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1004T>A (p.Ile335Asn) single nucleotide variant Episodic ataxia type 1 [RCV002832942] Chr12:4912382 [GRCh38]
Chr12:5021548 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.114C>A (p.Arg38=) single nucleotide variant Episodic ataxia type 1 [RCV003086416] Chr12:4911492 [GRCh38]
Chr12:5020658 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.894G>C (p.Arg298Ser) single nucleotide variant Episodic ataxia type 1 [RCV003028595]|not provided [RCV003443106] Chr12:4912272 [GRCh38]
Chr12:5021438 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.882C>T (p.Ile294=) single nucleotide variant Episodic ataxia type 1 [RCV003088472] Chr12:4912260 [GRCh38]
Chr12:5021426 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.74C>T (p.Pro25Leu) single nucleotide variant Episodic ataxia type 1 [RCV003086959] Chr12:4911452 [GRCh38]
Chr12:5020618 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.220G>A (p.Asp74Asn) single nucleotide variant Episodic ataxia type 1 [RCV002938267] Chr12:4911598 [GRCh38]
Chr12:5020764 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.594C>T (p.Phe198=) single nucleotide variant Episodic ataxia type 1 [RCV002651150] Chr12:4911972 [GRCh38]
Chr12:5021138 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1266A>C (p.Glu422Asp) single nucleotide variant Episodic ataxia type 1 [RCV003048325] Chr12:4912644 [GRCh38]
Chr12:5021810 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1009G>A (p.Val337Ile) single nucleotide variant Episodic ataxia type 1 [RCV003063708] Chr12:4912387 [GRCh38]
Chr12:5021553 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1249C>A (p.Arg417=) single nucleotide variant Episodic ataxia type 1 [RCV003051443] Chr12:4912627 [GRCh38]
Chr12:5021793 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.297C>A (p.Gly99=) single nucleotide variant Episodic ataxia type 1 [RCV002676909] Chr12:4911675 [GRCh38]
Chr12:5020841 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.235G>T (p.Glu79Ter) single nucleotide variant Episodic ataxia type 1 [RCV003049730] Chr12:4911613 [GRCh38]
Chr12:5020779 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.59A>G (p.Gln20Arg) single nucleotide variant Episodic ataxia type 1 [RCV003066447] Chr12:4911437 [GRCh38]
Chr12:5020603 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.767T>A (p.Phe256Tyr) single nucleotide variant Episodic ataxia type 1 [RCV003092603] Chr12:4912145 [GRCh38]
Chr12:5021311 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.510C>T (p.Ala170=) single nucleotide variant Episodic ataxia type 1 [RCV002657773] Chr12:4911888 [GRCh38]
Chr12:5021054 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.31G>T (p.Glu11Ter) single nucleotide variant Episodic ataxia type 1 [RCV003052537] Chr12:4911409 [GRCh38]
Chr12:5020575 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1149T>C (p.Ile383=) single nucleotide variant Episodic ataxia type 1 [RCV002633232] Chr12:4912527 [GRCh38]
Chr12:5021693 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1455C>T (p.Cys485=) single nucleotide variant Episodic ataxia type 1 [RCV002607188] Chr12:4912833 [GRCh38]
Chr12:5021999 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.257G>C (p.Arg86Pro) single nucleotide variant Episodic ataxia type 1 [RCV003069559] Chr12:4911635 [GRCh38]
Chr12:5020801 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.724G>T (p.Ala242Ser) single nucleotide variant Episodic ataxia type 1 [RCV002635349] Chr12:4912102 [GRCh38]
Chr12:5021268 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.502G>A (p.Val168Ile) single nucleotide variant Episodic ataxia type 1 [RCV003131310] Chr12:4911880 [GRCh38]
Chr12:5021046 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_000217.3(KCNA1):c.1226C>A (p.Ser409Tyr) single nucleotide variant Episodic ataxia type 1 [RCV004797403] Chr12:4912604 [GRCh38]
Chr12:5021770 [GRCh37]
Chr12:12p13.32		 likely pathogenic
NM_000217.3(KCNA1):c.988A>T (p.Ile330Phe) single nucleotide variant not provided [RCV003225387] Chr12:4912366 [GRCh38]
Chr12:5021532 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.637A>T (p.Asn213Tyr) single nucleotide variant Inborn genetic diseases [RCV003181465] Chr12:4912015 [GRCh38]
Chr12:5021181 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.920G>A (p.Arg307His) single nucleotide variant not provided [RCV003222752] Chr12:4912298 [GRCh38]
Chr12:5021464 [GRCh37]
Chr12:12p13.32		 likely pathogenic
NM_000217.3(KCNA1):c.30C>A (p.Asp10Glu) single nucleotide variant not provided [RCV003222751] Chr12:4911408 [GRCh38]
Chr12:5020574 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.608A>G (p.His203Arg) single nucleotide variant Episodic ataxia type 1 [RCV003133790] Chr12:4911986 [GRCh38]
Chr12:5021152 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.434C>T (p.Pro145Leu) single nucleotide variant not provided [RCV003229453] Chr12:4911812 [GRCh38]
Chr12:5020978 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.250C>A (p.Arg84Ser) single nucleotide variant Inborn genetic diseases [RCV003204599] Chr12:4911628 [GRCh38]
Chr12:5020794 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.966T>A (p.Ser322Arg) single nucleotide variant Episodic ataxia type 1 [RCV003325267] Chr12:4912344 [GRCh38]
Chr12:5021510 [GRCh37]
Chr12:12p13.32		 likely pathogenic
NM_000217.3(KCNA1):c.553T>C (p.Cys185Arg) single nucleotide variant not provided [RCV003325070] Chr12:4911931 [GRCh38]
Chr12:5021097 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.863T>A (p.Leu288Gln) single nucleotide variant Episodic ataxia type 1 [RCV003322699] Chr12:4912241 [GRCh38]
Chr12:5021407 [GRCh37]
Chr12:12p13.32		 likely pathogenic|uncertain significance
NM_000217.3(KCNA1):c.607C>T (p.His203Tyr) single nucleotide variant Episodic ataxia type 1 [RCV003777354]|not specified [RCV003324319] Chr12:4911985 [GRCh38]
Chr12:5021151 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.515T>C (p.Val172Ala) single nucleotide variant not provided [RCV003332805] Chr12:4911893 [GRCh38]
Chr12:5021059 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1371C>T (p.Ile457=) single nucleotide variant not provided [RCV003482748] Chr12:4912749 [GRCh38]
Chr12:5021915 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1 copy number loss not provided [RCV003483146] Chr12:191243..5332596 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_000217.3(KCNA1):c.1214C>A (p.Pro405His) single nucleotide variant Epileptic encephalopathy [RCV003484994] Chr12:4912592 [GRCh38]
Chr12:5021758 [GRCh37]
Chr12:12p13.32		 likely pathogenic
NM_000217.3(KCNA1):c.357T>C (p.Phe119=) single nucleotide variant not provided [RCV003482749] Chr12:4911735 [GRCh38]
Chr12:5020901 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1102G>C (p.Val368Leu) single nucleotide variant Episodic ataxia type 1 [RCV003388187] Chr12:4912480 [GRCh38]
Chr12:5021646 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.220G>T (p.Asp74Tyr) single nucleotide variant Episodic ataxia type 1 [RCV003825741] Chr12:4911598 [GRCh38]
Chr12:5020764 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.487T>C (p.Ser163Pro) single nucleotide variant not provided [RCV003390152] Chr12:4911865 [GRCh38]
Chr12:5021031 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.185T>C (p.Leu62Pro) single nucleotide variant KCNA1-related disorder [RCV004550583] Chr12:4911563 [GRCh38]
Chr12:5020729 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.216C>T (p.Tyr72=) single nucleotide variant not provided [RCV003396125] Chr12:4911594 [GRCh38]
Chr12:5020760 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.582T>C (p.Asp194=) single nucleotide variant Episodic ataxia type 1 [RCV003626864]|not provided [RCV003396126] Chr12:4911960 [GRCh38]
Chr12:5021126 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.856A>G (p.Thr286Ala) single nucleotide variant not provided [RCV003396127] Chr12:4912234 [GRCh38]
Chr12:5021400 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.559G>C (p.Glu187Gln) single nucleotide variant Episodic ataxia type 1 [RCV003516604] Chr12:4911937 [GRCh38]
Chr12:5021103 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.657C>A (p.Asp219Glu) single nucleotide variant Episodic ataxia type 1 [RCV003516443]|not provided [RCV004765892] Chr12:4912035 [GRCh38]
Chr12:5021201 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1023T>C (p.Ser341=) single nucleotide variant Episodic ataxia type 1 [RCV003626499] Chr12:4912401 [GRCh38]
Chr12:5021567 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.140G>C (p.Arg47Pro) single nucleotide variant Episodic ataxia type 1 [RCV003515044] Chr12:4911518 [GRCh38]
Chr12:5020684 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1248C>T (p.His416=) single nucleotide variant Episodic ataxia type 1 [RCV003515325] Chr12:4912626 [GRCh38]
Chr12:5021792 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1288G>T (p.Val430Phe) single nucleotide variant Episodic ataxia type 1 [RCV003516555]|KCNA1-related disorder [RCV004554263] Chr12:4912666 [GRCh38]
Chr12:5021832 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.666C>T (p.Phe222=) single nucleotide variant Episodic ataxia type 1 [RCV003626981] Chr12:4912044 [GRCh38]
Chr12:5021210 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.861C>T (p.Ser287=) single nucleotide variant Episodic ataxia type 1 [RCV003514262] Chr12:4912239 [GRCh38]
Chr12:5021405 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.436G>C (p.Glu146Gln) single nucleotide variant Episodic ataxia type 1 [RCV003830753] Chr12:4911814 [GRCh38]
Chr12:5020980 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1383G>A (p.Met461Ile) single nucleotide variant Episodic ataxia type 1 [RCV003627382] Chr12:4912761 [GRCh38]
Chr12:5021927 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1206G>C (p.Leu402=) single nucleotide variant Episodic ataxia type 1 [RCV003516113] Chr12:4912584 [GRCh38]
Chr12:5021750 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.598G>C (p.Gly200Arg) single nucleotide variant Episodic ataxia type 1 [RCV003514848] Chr12:4911976 [GRCh38]
Chr12:5021142 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.430C>T (p.Leu144=) single nucleotide variant Episodic ataxia type 1 [RCV003627708] Chr12:4911808 [GRCh38]
Chr12:5020974 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.740C>T (p.Thr247Met) single nucleotide variant Episodic ataxia type 1 [RCV003627835] Chr12:4912118 [GRCh38]
Chr12:5021284 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.917C>T (p.Ser306Phe) single nucleotide variant Episodic ataxia type 1 [RCV003515307] Chr12:4912295 [GRCh38]
Chr12:5021461 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1008G>A (p.Gly336=) single nucleotide variant Episodic ataxia type 1 [RCV003627935] Chr12:4912386 [GRCh38]
Chr12:5021552 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.471_472insTCC (p.Phe157_Glu158insSer) insertion Episodic ataxia type 1 [RCV003627961] Chr12:4911848..4911849 [GRCh38]
Chr12:5021014..5021015 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.458T>C (p.Val153Ala) single nucleotide variant Episodic ataxia type 1 [RCV003515105] Chr12:4911836 [GRCh38]
Chr12:5021002 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.99C>T (p.His33=) single nucleotide variant Episodic ataxia type 1 [RCV003514723] Chr12:4911477 [GRCh38]
Chr12:5020643 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.745T>C (p.Phe249Leu) single nucleotide variant Episodic ataxia type 1 [RCV003515368] Chr12:4912123 [GRCh38]
Chr12:5021289 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.256C>A (p.Arg86=) single nucleotide variant Episodic ataxia type 1 [RCV003513888] Chr12:4911634 [GRCh38]
Chr12:5020800 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.881_882delinsAT (p.Ile294Asn) indel Episodic ataxia type 1 [RCV003514914] Chr12:4912259..4912260 [GRCh38]
Chr12:5021425..5021426 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.17G>C (p.Gly6Ala) single nucleotide variant Episodic ataxia type 1 [RCV003627242] Chr12:4911395 [GRCh38]
Chr12:5020561 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.447C>A (p.Tyr149Ter) single nucleotide variant Episodic ataxia type 1 [RCV003515598] Chr12:4911825 [GRCh38]
Chr12:5020991 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.481G>A (p.Glu161Lys) single nucleotide variant Episodic ataxia type 1 [RCV003515675] Chr12:4911859 [GRCh38]
Chr12:5021025 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1107C>T (p.Ser369=) single nucleotide variant Episodic ataxia type 1 [RCV003626440] Chr12:4912485 [GRCh38]
Chr12:5021651 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.690C>A (p.Ile230=) single nucleotide variant Episodic ataxia type 1 [RCV003627161] Chr12:4912068 [GRCh38]
Chr12:5021234 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.263G>A (p.Ser88Asn) single nucleotide variant Episodic ataxia type 1 [RCV003515138] Chr12:4911641 [GRCh38]
Chr12:5020807 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1207C>T (p.Pro403Ser) single nucleotide variant Episodic ataxia type 1 [RCV003627413] Chr12:4912585 [GRCh38]
Chr12:5021751 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.84C>G (p.Ala28=) single nucleotide variant Episodic ataxia type 1 [RCV003628085] Chr12:4911462 [GRCh38]
Chr12:5020628 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1287C>A (p.His429Gln) single nucleotide variant Episodic ataxia type 1 [RCV003514040] Chr12:4912665 [GRCh38]
Chr12:5021831 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.87C>T (p.Asp29=) single nucleotide variant Episodic ataxia type 1 [RCV003514136] Chr12:4911465 [GRCh38]
Chr12:5020631 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.268G>A (p.Asp90Asn) single nucleotide variant Episodic ataxia type 1 [RCV003626568] Chr12:4911646 [GRCh38]
Chr12:5020812 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.669C>T (p.Ile223=) single nucleotide variant Episodic ataxia type 1 [RCV003516172] Chr12:4912047 [GRCh38]
Chr12:5021213 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.762dup (p.Asn255fs) duplication Episodic ataxia type 1 [RCV003515681] Chr12:4912139..4912140 [GRCh38]
Chr12:5021305..5021306 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1438A>G (p.Thr480Ala) single nucleotide variant Episodic ataxia type 1 [RCV003514236] Chr12:4912816 [GRCh38]
Chr12:5021982 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.383A>G (p.Glu128Gly) single nucleotide variant Episodic ataxia type 1 [RCV003627640] Chr12:4911761 [GRCh38]
Chr12:5020927 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1005C>T (p.Ile335=) single nucleotide variant Episodic ataxia type 1 [RCV003514288] Chr12:4912383 [GRCh38]
Chr12:5021549 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.103T>C (p.Cys35Arg) single nucleotide variant Episodic ataxia type 1 [RCV003515136] Chr12:4911481 [GRCh38]
Chr12:5020647 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.767T>G (p.Phe256Cys) single nucleotide variant Episodic ataxia type 1 [RCV003626300] Chr12:4912145 [GRCh38]
Chr12:5021311 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1166G>A (p.Gly389Asp) single nucleotide variant Episodic ataxia type 1 [RCV003516267] Chr12:4912544 [GRCh38]
Chr12:5021710 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.409A>G (p.Ile137Val) single nucleotide variant Episodic ataxia type 1 [RCV003626457] Chr12:4911787 [GRCh38]
Chr12:5020953 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.457G>T (p.Val153Leu) single nucleotide variant Episodic ataxia type 1 [RCV003486121] Chr12:4911835 [GRCh38]
Chr12:5021001 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.924C>T (p.His308=) single nucleotide variant Episodic ataxia type 1 [RCV003627584] Chr12:4912302 [GRCh38]
Chr12:5021468 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.973G>A (p.Glu325Lys) single nucleotide variant Episodic ataxia type 1 [RCV003514946] Chr12:4912351 [GRCh38]
Chr12:5021517 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1287C>T (p.His429=) single nucleotide variant Episodic ataxia type 1 [RCV003626102] Chr12:4912665 [GRCh38]
Chr12:5021831 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.5C>A (p.Thr2Lys) single nucleotide variant Episodic ataxia type 1 [RCV003626970] Chr12:4911383 [GRCh38]
Chr12:5020549 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.948C>T (p.Gly316=) single nucleotide variant Episodic ataxia type 1 [RCV003515415] Chr12:4912326 [GRCh38]
Chr12:5021492 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.61G>T (p.Asp21Tyr) single nucleotide variant Episodic ataxia type 1 [RCV003515995] Chr12:4911439 [GRCh38]
Chr12:5020605 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.354G>A (p.Lys118=) single nucleotide variant Episodic ataxia type 1 [RCV003626398] Chr12:4911732 [GRCh38]
Chr12:5020898 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.40G>T (p.Ala14Ser) single nucleotide variant Episodic ataxia type 1 [RCV003628595] Chr12:4911418 [GRCh38]
Chr12:5020584 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.799A>G (p.Ile267Val) single nucleotide variant Episodic ataxia type 1 [RCV003514691]|Inborn genetic diseases [RCV004985378] Chr12:4912177 [GRCh38]
Chr12:5021343 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.615C>T (p.Ile205=) single nucleotide variant Episodic ataxia type 1 [RCV003628025] Chr12:4911993 [GRCh38]
Chr12:5021159 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.463C>T (p.Leu155=) single nucleotide variant Episodic ataxia type 1 [RCV003514724] Chr12:4911841 [GRCh38]
Chr12:5021007 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.974A>G (p.Glu325Gly) single nucleotide variant Episodic ataxia type 1 [RCV003515231] Chr12:4912352 [GRCh38]
Chr12:5021518 [GRCh37]
Chr12:12p13.32		 likely pathogenic|uncertain significance
NM_000217.3(KCNA1):c.152A>T (p.Gln51Leu) single nucleotide variant Episodic ataxia type 1 [RCV003515751] Chr12:4911530 [GRCh38]
Chr12:5020696 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.34G>C (p.Ala12Pro) single nucleotide variant Episodic ataxia type 1 [RCV003877634] Chr12:4911412 [GRCh38]
Chr12:5020578 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.609C>T (p.His203=) single nucleotide variant Episodic ataxia type 1 [RCV003628263] Chr12:4911987 [GRCh38]
Chr12:5021153 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1062G>A (p.Ser354=) single nucleotide variant Episodic ataxia type 1 [RCV003628409]|not provided [RCV003992784] Chr12:4912440 [GRCh38]
Chr12:5021606 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1288G>A (p.Val430Ile) single nucleotide variant Episodic ataxia type 1 [RCV003626944] Chr12:4912666 [GRCh38]
Chr12:5021832 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.295G>A (p.Gly99Ser) single nucleotide variant Episodic ataxia type 1 [RCV003513856] Chr12:4911673 [GRCh38]
Chr12:5020839 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.813C>T (p.Thr271=) single nucleotide variant Episodic ataxia type 1 [RCV003513879] Chr12:4912191 [GRCh38]
Chr12:5021357 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.353A>G (p.Lys118Arg) single nucleotide variant Episodic ataxia type 1 [RCV003627326] Chr12:4911731 [GRCh38]
Chr12:5020897 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.911A>G (p.Lys304Arg) single nucleotide variant Episodic ataxia type 1 [RCV003627290] Chr12:4912289 [GRCh38]
Chr12:5021455 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.378C>T (p.Ala126=) single nucleotide variant Episodic ataxia type 1 [RCV003627620] Chr12:4911756 [GRCh38]
Chr12:5020922 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.352A>G (p.Lys118Glu) single nucleotide variant Episodic ataxia type 1 [RCV003514267] Chr12:4911730 [GRCh38]
Chr12:5020896 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.360C>T (p.Tyr120=) single nucleotide variant Episodic ataxia type 1 [RCV003626259] Chr12:4911738 [GRCh38]
Chr12:5020904 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.793T>C (p.Tyr265His) single nucleotide variant Episodic ataxia type 1 [RCV003514233] Chr12:4912171 [GRCh38]
Chr12:5021337 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.807G>A (p.Leu269=) single nucleotide variant Episodic ataxia type 1 [RCV003514022] Chr12:4912185 [GRCh38]
Chr12:5021351 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1275T>C (p.Ala425=) single nucleotide variant Episodic ataxia type 1 [RCV003626420] Chr12:4912653 [GRCh38]
Chr12:5021819 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1132A>G (p.Met378Val) single nucleotide variant Episodic ataxia type 1 [RCV003628040] Chr12:4912510 [GRCh38]
Chr12:5021676 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.174C>T (p.Phe58=) single nucleotide variant Episodic ataxia type 1 [RCV003810920] Chr12:4911552 [GRCh38]
Chr12:5020718 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1182C>T (p.Ile394=) single nucleotide variant Episodic ataxia type 1 [RCV003856429] Chr12:4912560 [GRCh38]
Chr12:5021726 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1141G>A (p.Val381Met) single nucleotide variant Episodic ataxia type 1 [RCV003843729] Chr12:4912519 [GRCh38]
Chr12:5021685 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.58C>A (p.Gln20Lys) single nucleotide variant Episodic ataxia type 1 [RCV003845524] Chr12:4911436 [GRCh38]
Chr12:5020602 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1 copy number loss not specified [RCV003986988] Chr12:2246103..5406692 [GRCh37]
Chr12:12p13.33-13.31		 likely pathogenic
GRCh37/hg19 12p13.32(chr12:4991924-5223908)x3 copy number gain not specified [RCV003986959] Chr12:4991924..5223908 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1411G>T (p.Val471Phe) single nucleotide variant Episodic ataxia type 1 [RCV003853490] Chr12:4912789 [GRCh38]
Chr12:5021955 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.32(chr12:4922894-5151998)x3 copy number gain not specified [RCV003986966] Chr12:4922894..5151998 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.427C>T (p.Pro143Ser) single nucleotide variant Episodic ataxia type 1 [RCV003821038] Chr12:4911805 [GRCh38]
Chr12:5020971 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.504C>T (p.Val168=) single nucleotide variant Episodic ataxia type 1 [RCV003848266] Chr12:4911882 [GRCh38]
Chr12:5021048 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.930G>C (p.Lys310Asn) single nucleotide variant Episodic ataxia type 1 [RCV004555453]|KCNA1-related disorder [RCV004723608] Chr12:4912308 [GRCh38]
Chr12:5021474 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1406G>A (p.Arg469Lys) single nucleotide variant Episodic ataxia type 1 [RCV005006386]|Inborn genetic diseases [RCV004405897] Chr12:4912784 [GRCh38]
Chr12:5021950 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.172T>C (p.Phe58Leu) single nucleotide variant Inborn genetic diseases [RCV004405898] Chr12:4911550 [GRCh38]
Chr12:5020716 [GRCh37]
Chr12:12p13.32		 uncertain significance
NC_000012.11:g.(?_5020545)_(5022032_?)dup duplication Episodic ataxia type 1 [RCV004578413] Chr12:5020545..5022032 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.924C>G (p.His308Gln) single nucleotide variant Inborn genetic diseases [RCV004636016] Chr12:4912302 [GRCh38]
Chr12:5021468 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.347A>G (p.Glu116Gly) single nucleotide variant not provided [RCV004585697] Chr12:4911725 [GRCh38]
Chr12:5020891 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.563C>G (p.Thr188Arg) single nucleotide variant not provided [RCV004793861] Chr12:4911941 [GRCh38]
Chr12:5021107 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1048G>A (p.Glu350Lys) single nucleotide variant Episodic ataxia type 1 [RCV004759654]|not provided [RCV005000583]   uncertain significance
NM_000217.3(KCNA1):c.1247A>C (p.His416Pro) single nucleotide variant KCNA1-related disorder [RCV004728202] Chr12:4912625 [GRCh38]
Chr12:5021791 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.83C>G (p.Ala28Gly) single nucleotide variant not provided [RCV004762414]   uncertain significance
NM_000217.3(KCNA1):c.733A>G (p.Ser245Gly) single nucleotide variant not provided [RCV004798485] Chr12:4912111 [GRCh38]
Chr12:5021277 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.688A>G (p.Ile230Val) single nucleotide variant Episodic ataxia type 1 [RCV005104995]|not provided [RCV004772582] Chr12:4912066 [GRCh38]
Chr12:5021232 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1478C>G (p.Thr493Ser) single nucleotide variant not provided [RCV004770579] Chr12:4912856 [GRCh38]
Chr12:5022022 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.235G>C (p.Glu79Gln) single nucleotide variant Episodic ataxia type 1 [RCV005006547]|not provided [RCV004769002] Chr12:4911613 [GRCh38]
Chr12:5020779 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.932G>A (p.Gly311Asp) single nucleotide variant not provided [RCV004721885] Chr12:4912310 [GRCh38]
Chr12:5021476 [GRCh37]
Chr12:12p13.32		 pathogenic
NM_000217.3(KCNA1):c.514G>C (p.Val172Leu) single nucleotide variant Episodic ataxia type 1 [RCV005011319] Chr12:4911892 [GRCh38]
Chr12:5021058 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.610C>G (p.Arg204Gly) single nucleotide variant Episodic ataxia type 1 [RCV005011320] Chr12:4911988 [GRCh38]
Chr12:5021154 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.601A>G (p.Thr201Ala) single nucleotide variant Inborn genetic diseases [RCV004989745] Chr12:4911979 [GRCh38]
Chr12:5021145 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1478C>T (p.Thr493Ile) single nucleotide variant Inborn genetic diseases [RCV004989746] Chr12:4912856 [GRCh38]
Chr12:5022022 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.192C>T (p.Gly64=) single nucleotide variant Episodic ataxia type 1 [RCV005011318] Chr12:4911570 [GRCh38]
Chr12:5020736 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.633C>T (p.Ile211=) single nucleotide variant Episodic ataxia type 1 [RCV005011321] Chr12:4912011 [GRCh38]
Chr12:5021177 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.48G>C (p.Pro16=) single nucleotide variant Episodic ataxia type 1 [RCV005011317] Chr12:4911426 [GRCh38]
Chr12:5020592 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.865G>A (p.Ala289Thr) single nucleotide variant Episodic ataxia type 1 [RCV005011322] Chr12:4912243 [GRCh38]
Chr12:5021409 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1166G>T (p.Gly389Val) single nucleotide variant Episodic ataxia type 1 [RCV005011323] Chr12:4912544 [GRCh38]
Chr12:5021710 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1405A>G (p.Arg469Gly) single nucleotide variant Episodic ataxia type 1 [RCV005011324] Chr12:4912783 [GRCh38]
Chr12:5021949 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1433G>A (p.Cys478Tyr) single nucleotide variant Episodic ataxia type 1 [RCV005011325] Chr12:4912811 [GRCh38]
Chr12:5021977 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1390A>G (p.Ser464Gly) single nucleotide variant not provided [RCV005052406] Chr12:4912768 [GRCh38]
Chr12:5021934 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173787-34835837)x4 copy number gain not provided [RCV004819308] Chr12:173787..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.32-13.31(chr12:3602229-5406692)x1 copy number loss not provided [RCV004819844] Chr12:3602229..5406692 [GRCh37]
Chr12:12p13.32-13.31		 uncertain significance
NM_000217.3(KCNA1):c.588G>A (p.Lys196=) single nucleotide variant Episodic ataxia type 1 [RCV005126576] Chr12:4911966 [GRCh38]
Chr12:5021132 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1276C>T (p.Gln426Ter) single nucleotide variant Episodic ataxia type 1 [RCV005134101] Chr12:4912654 [GRCh38]
Chr12:5021820 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.905T>G (p.Ile302Ser) single nucleotide variant Episodic ataxia type 1 [RCV005125188] Chr12:4912283 [GRCh38]
Chr12:5021449 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.652A>C (p.Thr218Pro) single nucleotide variant Episodic ataxia type 1 [RCV005133604] Chr12:4912030 [GRCh38]
Chr12:5021196 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.616G>T (p.Asp206Tyr) single nucleotide variant Episodic ataxia type 1 [RCV005111641] Chr12:4911994 [GRCh38]
Chr12:5021160 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.736A>G (p.Lys246Glu) single nucleotide variant Episodic ataxia type 1 [RCV005124483] Chr12:4912114 [GRCh38]
Chr12:5021280 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.329dup (p.Asp111fs) duplication Episodic ataxia type 1 [RCV005135241] Chr12:4911706..4911707 [GRCh38]
Chr12:5020872..5020873 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.27G>A (p.Val9=) single nucleotide variant Episodic ataxia type 1 [RCV005132282] Chr12:4911405 [GRCh38]
Chr12:5020571 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.236A>C (p.Glu79Ala) single nucleotide variant Episodic ataxia type 1 [RCV005122979] Chr12:4911614 [GRCh38]
Chr12:5020780 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1129G>A (p.Asp377Asn) single nucleotide variant Episodic ataxia type 1 [RCV005124119] Chr12:4912507 [GRCh38]
Chr12:5021673 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.447C>T (p.Tyr149=) single nucleotide variant Episodic ataxia type 1 [RCV005150985] Chr12:4911825 [GRCh38]
Chr12:5020991 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.4A>T (p.Thr2Ser) single nucleotide variant Episodic ataxia type 1 [RCV005159400] Chr12:4911382 [GRCh38]
Chr12:5020548 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1089C>T (p.Phe363=) single nucleotide variant Episodic ataxia type 1 [RCV005159908] Chr12:4912467 [GRCh38]
Chr12:5021633 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1125C>G (p.Tyr375Ter) single nucleotide variant not provided [RCV005205753] Chr12:4912503 [GRCh38]
Chr12:5021669 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.478C>T (p.Pro160Ser) single nucleotide variant Episodic ataxia type 1 [RCV005076683] Chr12:4911856 [GRCh38]
Chr12:5021022 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.132C>T (p.Ser44=) single nucleotide variant Episodic ataxia type 1 [RCV005176978] Chr12:4911510 [GRCh38]
Chr12:5020676 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.596C>A (p.Thr199Lys) single nucleotide variant Episodic ataxia type 1 [RCV005155679] Chr12:4911974 [GRCh38]
Chr12:5021140 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.189G>A (p.Leu63=) single nucleotide variant Episodic ataxia type 1 [RCV005166784] Chr12:4911567 [GRCh38]
Chr12:5020733 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.542T>A (p.Ile181Asn) single nucleotide variant Episodic ataxia type 1 [RCV005202967] Chr12:4911920 [GRCh38]
Chr12:5021086 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.742G>C (p.Asp248His) single nucleotide variant Episodic ataxia type 1 [RCV005202965] Chr12:4912120 [GRCh38]
Chr12:5021286 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.818T>C (p.Ile273Thr) single nucleotide variant Episodic ataxia type 1 [RCV005202968] Chr12:4912196 [GRCh38]
Chr12:5021362 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.1170C>T (p.Ser390=) single nucleotide variant Episodic ataxia type 1 [RCV005207059] Chr12:4912548 [GRCh38]
Chr12:5021714 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.689T>C (p.Ile230Thr) single nucleotide variant Episodic ataxia type 1 [RCV005158870] Chr12:4912067 [GRCh38]
Chr12:5021233 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.565C>T (p.Leu189Phe) single nucleotide variant Episodic ataxia type 1 [RCV005202969] Chr12:4911943 [GRCh38]
Chr12:5021109 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.576G>A (p.Leu192=) single nucleotide variant Episodic ataxia type 1 [RCV005181690] Chr12:4911954 [GRCh38]
Chr12:5021120 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1263G>C (p.Gly421=) single nucleotide variant Episodic ataxia type 1 [RCV005152870] Chr12:4912641 [GRCh38]
Chr12:5021807 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.411C>T (p.Ile137=) single nucleotide variant Episodic ataxia type 1 [RCV005168386] Chr12:4911789 [GRCh38]
Chr12:5020955 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1466G>C (p.Ser489Thr) single nucleotide variant Episodic ataxia type 1 [RCV005078367] Chr12:4912844 [GRCh38]
Chr12:5022010 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.804G>A (p.Thr268=) single nucleotide variant Episodic ataxia type 1 [RCV005188618] Chr12:4912182 [GRCh38]
Chr12:5021348 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.108C>T (p.Cys36=) single nucleotide variant Episodic ataxia type 1 [RCV005078800] Chr12:4911486 [GRCh38]
Chr12:5020652 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1284C>G (p.Leu428=) single nucleotide variant Episodic ataxia type 1 [RCV005145822] Chr12:4912662 [GRCh38]
Chr12:5021828 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1379A>G (p.Asp460Gly) single nucleotide variant Episodic ataxia type 1 [RCV005175113] Chr12:4912757 [GRCh38]
Chr12:5021923 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.870C>T (p.Ile290=) single nucleotide variant Episodic ataxia type 1 [RCV005189787] Chr12:4912248 [GRCh38]
Chr12:5021414 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.471C>T (p.Phe157=) single nucleotide variant Episodic ataxia type 1 [RCV005168391] Chr12:4911849 [GRCh38]
Chr12:5021015 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1325G>T (p.Ser442Ile) single nucleotide variant Episodic ataxia type 1 [RCV005176111] Chr12:4912703 [GRCh38]
Chr12:5021869 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.188T>C (p.Leu63Pro) single nucleotide variant Episodic ataxia type 1 [RCV005161977] Chr12:4911566 [GRCh38]
Chr12:5020732 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.639T>G (p.Asn213Lys) single nucleotide variant Episodic ataxia type 1 [RCV005176867] Chr12:4912017 [GRCh38]
Chr12:5021183 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_000217.3(KCNA1):c.774C>T (p.Asp258=) single nucleotide variant Episodic ataxia type 1 [RCV005193669] Chr12:4912152 [GRCh38]
Chr12:5021318 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.93C>T (p.Asp31=) single nucleotide variant Episodic ataxia type 1 [RCV005186745] Chr12:4911471 [GRCh38]
Chr12:5020637 [GRCh37]
Chr12:12p13.32		 likely benign
NM_000217.3(KCNA1):c.1407A>G (p.Arg469=) single nucleotide variant Episodic ataxia type 1 [RCV005173306] Chr12:4912785 [GRCh38]
Chr12:5021951 [GRCh37]
Chr12:12p13.32		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2601
Count of miRNA genes:1156
Interacting mature miRNAs:1463
Transcripts:ENST00000382545, ENST00000541095, ENST00000543874
Prediction methods: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
RH11273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,027,202 - 5,027,341UniSTSGRCh37
Build 36124,897,463 - 4,897,602RGDNCBI36
Celera126,649,044 - 6,649,183RGD
Cytogenetic Map12p13.32UniSTS
HuRef124,883,980 - 4,884,119UniSTS
GeneMap99-GB4 RH Map1229.15UniSTS
NCBI RH Map1276.7UniSTS
UniSTS:143652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,020,684 - 5,020,798UniSTSGRCh37
Build 36124,890,945 - 4,891,059RGDNCBI36
Celera126,642,528 - 6,642,642RGD
HuRef124,877,464 - 4,877,578UniSTS
GDB:435448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,020,551 - 5,021,336UniSTSGRCh37
Build 36124,890,812 - 4,891,597RGDNCBI36
Celera126,642,395 - 6,643,180RGD
Cytogenetic Map12p13.32UniSTS
HuRef124,877,331 - 4,878,116UniSTS
GDB:435453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,020,917 - 5,021,664UniSTSGRCh37
Build 36124,891,178 - 4,891,925RGDNCBI36
Celera126,642,761 - 6,643,508RGD
Cytogenetic Map12p13.32UniSTS
HuRef124,877,697 - 4,878,444UniSTS
GDB:435459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,021,275 - 5,022,032UniSTSGRCh37
Build 36124,891,536 - 4,892,293RGDNCBI36
Celera126,643,119 - 6,643,876RGD
Cytogenetic Map12p13.32UniSTS
HuRef124,878,055 - 4,878,812UniSTS
PMC20739P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,020,505 - 5,020,708UniSTSGRCh37
Build 36124,890,766 - 4,890,969RGDNCBI36
Celera126,642,349 - 6,642,552RGD
HuRef124,877,285 - 4,877,488UniSTS
PMC20739P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,020,505 - 5,020,693UniSTSGRCh37
Build 36124,890,766 - 4,890,954RGDNCBI36
Celera126,642,349 - 6,642,537RGD
HuRef124,877,285 - 4,877,473UniSTS
KCNA1_867  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,021,306 - 5,022,114UniSTSGRCh37
Build 36124,891,567 - 4,892,375RGDNCBI36
Celera126,643,150 - 6,643,958RGD
HuRef124,878,086 - 4,878,894UniSTS
AB063024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,026,963 - 5,027,069UniSTSGRCh37
Build 36124,897,224 - 4,897,330RGDNCBI36
Celera126,648,805 - 6,648,911RGD
HuRef124,883,741 - 4,883,847UniSTS
RH78540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,020,551 - 5,020,673UniSTSGRCh37
Build 36124,890,812 - 4,890,934RGDNCBI36
Celera126,642,395 - 6,642,517RGD
Cytogenetic Map12p13.32UniSTS
HuRef124,877,331 - 4,877,453UniSTS
GeneMap99-GB4 RH Map1226.96UniSTS
UniSTS:480933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,020,545 - 5,022,032UniSTSGRCh37
Celera126,642,389 - 6,643,876UniSTS
HuRef124,877,325 - 4,878,812UniSTS
UniSTS:485592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,020,507 - 5,022,080UniSTSGRCh37
Celera126,642,351 - 6,643,924UniSTS
HuRef124,877,287 - 4,878,860UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1189 2045 2238 1630 4571 1208 1509 264 1060 105 2044 4546 4712 6 3653 469 1380 1216 163

Sequence


Ensembl Acc Id: ENST00000382545   ⟹   ENSP00000371985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl124,909,905 - 4,918,256 (+)Ensembl
Ensembl Acc Id: ENST00000543874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl124,910,368 - 4,918,186 (+)Ensembl
Ensembl Acc Id: ENST00000639306   ⟹   ENSP00000492506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl124,911,541 - 4,918,220 (+)Ensembl
Ensembl Acc Id: ENST00000639680   ⟹   ENSP00000492218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl124,912,191 - 4,918,204 (+)Ensembl
RefSeq Acc Id: NM_000217   ⟹   NP_000208
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,909,905 - 4,918,256 (+)NCBI
GRCh37125,019,073 - 5,027,422 (+)ENTREZGENE
Build 36124,889,334 - 4,897,683 (+)NCBI Archive
HuRef124,875,853 - 4,884,200 (+)ENTREZGENE
CHM1_1125,018,738 - 5,027,087 (+)NCBI
T2T-CHM13v2.0124,916,952 - 4,925,303 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000208 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36139 (Get FASTA)   NCBI Sequence Viewer  
  AAI01734 (Get FASTA)   NCBI Sequence Viewer  
  AAI12181 (Get FASTA)   NCBI Sequence Viewer  
  EAW88833 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000371985
  ENSP00000371985.3
  ENSP00000492218.1
  ENSP00000492506.1
GenBank Protein Q09470 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000208   ⟸   NM_000217
- UniProtKB: A6NM83 (UniProtKB/Swiss-Prot),   Q3MIQ9 (UniProtKB/Swiss-Prot),   Q09470 (UniProtKB/Swiss-Prot),   A0A1W2PRI2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000492218   ⟸   ENST00000639680
Ensembl Acc Id: ENSP00000492506   ⟸   ENST00000639306
Ensembl Acc Id: ENSP00000371985   ⟸   ENST00000382545
Protein Domains
Ion transport   Potassium channel tetramerisation-type BTB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q09470-F1-model_v2 AlphaFold Q09470 1-495 view protein structure

Promoters
RGD ID:6790143
Promoter ID:HG_KWN:14788
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_000217
Position:
Human AssemblyChrPosition (strand)Source
Build 36124,889,131 - 4,889,732 (+)MPROMDB
RGD ID:6789918
Promoter ID:HG_KWN:14789
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000228858
Position:
Human AssemblyChrPosition (strand)Source
Build 36124,890,214 - 4,890,714 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6218 AgrOrtholog
COSMIC KCNA1 COSMIC
Ensembl Genes ENSG00000111262 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000382545 ENTREZGENE
  ENST00000382545.5 UniProtKB/Swiss-Prot
  ENST00000639306.1 UniProtKB/TrEMBL
  ENST00000639680.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Potassium Channel Kv1.1, Chain A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000111262 GTEx
HGNC ID HGNC:6218 ENTREZGENE
Human Proteome Map KCNA1 Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv1.1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T1-type_BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VG_K_chnl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3736 UniProtKB/Swiss-Prot
NCBI Gene 3736 ENTREZGENE
OMIM 176260 OMIM
PANTHER POTASSIUM VOLTAGE-GATED CHANNEL SUBFAMILY A MEMBER 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11537 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30019 PharmGKB
PRINTS KCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KV11CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KVCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHAKERCHANEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BTB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PQM4_HUMAN UniProtKB/TrEMBL
  A0A1W2PRI2 ENTREZGENE, UniProtKB/TrEMBL
  A6NM83 ENTREZGENE
  KCNA1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3MIQ9 ENTREZGENE
UniProt Secondary A6NM83 UniProtKB/Swiss-Prot
  Q3MIQ9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNA1  potassium voltage-gated channel subfamily A member 1  KCNA1  potassium channel, voltage gated shaker related subfamily A, member 1  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNA1  potassium channel, voltage gated shaker related subfamily A, member 1  KCNA1  potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)  Symbol and/or name change 5135510 APPROVED