KCNMA1 (potassium calcium-activated channel subfamily M alpha 1) - Rat Genome Database

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Gene: KCNMA1 (potassium calcium-activated channel subfamily M alpha 1) Homo sapiens
Analyze
Symbol: KCNMA1
Name: potassium calcium-activated channel subfamily M alpha 1
RGD ID: 731981
HGNC Page HGNC:6284
Description: Enables actin binding activity; identical protein binding activity; and potassium channel activity. Involved in several processes, including intracellular potassium ion homeostasis; negative regulation of cell volume; and smooth muscle contraction involved in micturition. Located in apical plasma membrane and caveola. Part of voltage-gated potassium channel complex. Implicated in Alzheimer's disease; idiopathic generalized epilepsy; and paroxysmal nonkinesigenic dyskinesia 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bA205K10.1; big potassium channel alpha subunit; BK channel; BK channel alpha subunit; BKCA alpha subunit; BKTM; CADEDS; calcium-activated potassium channel subunit alpha-1; calcium-activated potassium channel, subfamily M subunit alpha-1; DKFZp686K1437; Drosophila slowpoke-like; hSlo; IEG16; k(VCA)alpha; KCa1.1; LIWAS; maxi K channel; maxi-K channel HSLO; MaxiK; MGC71881; mSLO1; PNKD3; potassium channel, calcium activated large conductance subfamily M alpha, member 1; potassium large conductance calcium-activated channel, subfamily M, alpha member 1; SAKCA; SLO; slo homolog; SLO-ALPHA; SLO1; slowpoke homolog; stretch-activated Kca channel; uncharacterized protein LOC3778
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381076,869,602 - 77,637,808 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1076,869,601 - 77,638,369 (-)EnsemblGRCh38hg38GRCh38
GRCh371078,629,360 - 79,397,566 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361078,299,366 - 79,067,583 (-)NCBINCBI36Build 36hg18NCBI36
Build 341078,314,640 - 79,067,583NCBI
Celera1071,914,113 - 72,684,182 (-)NCBICelera
Cytogenetic Map10q22.3NCBI
HuRef1072,624,294 - 73,391,824 (-)NCBIHuRef
CHM1_11078,911,952 - 79,680,009 (-)NCBICHM1_1
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(+)-Pimaric acid  (ISO)
(R)-noradrenaline  (ISO)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-D  (ISO)
2-methylcholine  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetylcholine  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bexarotene  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (ISO)
caesium atom  (ISO)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
cisplatin  (EXP)
clothianidin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
D-glucose  (EXP,ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
endosulfan  (EXP,ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
folic acid  (ISO)
formaldehyde  (ISO)
fructose  (ISO)
fulvestrant  (EXP,ISO)
genistein  (ISO)
glucose  (EXP,ISO)
hydrogen peroxide  (ISO)
indometacin  (EXP,ISO)
inulin  (ISO)
Lasiocarpine  (EXP)
lithocholic acid  (EXP,ISO)
malathion  (EXP)
maneb  (ISO)
methapyrilene  (EXP)
methotrexate  (EXP)
methoxychlor  (ISO)
mifepristone  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
nitrofen  (ISO)
NS 1619  (EXP)
O-methyleugenol  (EXP)
ozone  (ISO)
paclitaxel  (EXP)
paraquat  (ISO)
paxilline  (ISO)
PCB138  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
pergolide  (ISO)
phloretin  (ISO)
piroxicam  (EXP)
potassium atom  (ISO)
progesterone  (EXP,ISO)
propanal  (EXP)
pyridaben  (ISO)
rubidium atom  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium disulfite  (ISO)
T-2 toxin  (EXP)
tamoxifen  (EXP,ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
tetraethylammonium  (EXP)
thallium  (ISO)
toluene  (ISO)
topotecan  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
valproic acid  (ISO)
vinclozolin  (ISO)
XL147  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal external genitalia  (IAGP)
Absent fingernail  (IAGP)
Anterior open-bite malocclusion  (IAGP)
Ataxia  (IAGP)
Atypical absence seizure  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Bifid uvula  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bilateral tonic-clonic seizure with focal onset  (IAGP)
Bilateral tonic-clonic seizure with generalized onset  (IAGP)
Brisk reflexes  (IAGP)
Bulbous nose  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Childhood onset  (IAGP)
Chorea  (IAGP)
Cleft palate  (IAGP)
Deep palmar crease  (IAGP)
Deep plantar creases  (IAGP)
Delayed speech and language development  (IAGP)
Diastema  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
EEG with spike-wave complexes (>3.5 Hz)  (IAGP)
Esotropia  (IAGP)
Everted lower lip vermilion  (IAGP)
Facial hypertrichosis  (IAGP)
Generalized hyperpigmentation  (IAGP)
Generalized hypertrichosis  (IAGP)
Generalized hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized-onset seizure  (IAGP)
Gingival fibromatosis  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hallux valgus  (IAGP)
Hepatomegaly  (IAGP)
High palate  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypoplastic fingernail  (IAGP)
Hypotonia  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, borderline  (IAGP)
Joint hypermobility  (IAGP)
Juvenile onset  (IAGP)
Large fleshy ears  (IAGP)
Laryngomalacia  (IAGP)
Long eyelashes  (IAGP)
Macrodontia of permanent maxillary central incisor  (IAGP)
Macroglossia  (IAGP)
Megalocornea  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Myoclonic absence seizure  (IAGP)
Myoclonic seizure  (IAGP)
Neonatal onset  (IAGP)
Nystagmus  (IAGP)
Overtubulated long bones  (IAGP)
Paroxysmal dyskinesia  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Soft skin  (IAGP)
Spastic ataxia  (IAGP)
Splenomegaly  (IAGP)
Status epilepticus  (IAGP)
Strabismus  (IAGP)
Supernumerary tooth  (IAGP)
Synophrys  (IAGP)
Telecanthus  (IAGP)
Thick eyebrow  (IAGP)
Thickened ears  (IAGP)
Thin upper lip vermilion  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Replication study of genome-wide associated SNPs with late-onset Alzheimer's disease. Burns LC, etal., Am J Med Genet B Neuropsychiatr Genet. 2011 Jun;156B(4):507-12. doi: 10.1002/ajmg.b.31194. Epub 2011 Apr 7.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Enhanced K(+) secretion in dextran sulfate-induced colitis reflects upregulation of large conductance apical K(+) channels (BK; Kcnma1). Kanthesh BM, etal., Am J Physiol Cell Physiol. 2013 Nov 1;305(9):C972-80. doi: 10.1152/ajpcell.00165.2013. Epub 2013 Aug 28.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. [Ca(2+)-activated K(+) channel switching in smooth muscle participates in atherosclerosis development in diabetic rats]. Wang Y, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2014 Feb;34(2):188-92.
9. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:7573516   PMID:7687074   PMID:7877450   PMID:7987297   PMID:7993625   PMID:8006036   PMID:8612769   PMID:8821792   PMID:8962157   PMID:9391153   PMID:9829973   PMID:10097176  
PMID:10489376   PMID:10692449   PMID:10758170   PMID:10840032   PMID:11245614   PMID:11401860   PMID:11604135   PMID:11641143   PMID:11832330   PMID:11880485   PMID:11880513   PMID:11986367  
PMID:12009018   PMID:12016222   PMID:12161564   PMID:12223479   PMID:12388065   PMID:12391293   PMID:12434576   PMID:12438308   PMID:12477932   PMID:12566537   PMID:14522958   PMID:14523450  
PMID:14584897   PMID:14631046   PMID:14702039   PMID:14715246   PMID:15164054   PMID:15174051   PMID:15194822   PMID:15251455   PMID:15280542   PMID:15489334   PMID:15528406   PMID:15703204  
PMID:15849354   PMID:15937479   PMID:16042390   PMID:16081418   PMID:16100257   PMID:16382103   PMID:16385451   PMID:16396928   PMID:16790810   PMID:16895996   PMID:16951373   PMID:17146446  
PMID:17150299   PMID:17166942   PMID:17468961   PMID:17483867   PMID:17521822   PMID:17586600   PMID:17591987   PMID:17591990   PMID:17706472   PMID:17901123   PMID:17989352   PMID:18084004  
PMID:18162557   PMID:18180950   PMID:18227273   PMID:18287010   PMID:18316727   PMID:18345016   PMID:18367663   PMID:18385281   PMID:18404672   PMID:18414909   PMID:18458941   PMID:18480178  
PMID:18559348   PMID:18719396   PMID:18854754   PMID:19052171   PMID:19096717   PMID:19118164   PMID:19168436   PMID:19204046   PMID:19344525   PMID:19403801   PMID:19430934   PMID:19456106  
PMID:19482008   PMID:19552602   PMID:19617704   PMID:19640305   PMID:19718020   PMID:19738431   PMID:20012488   PMID:20037152   PMID:20051533   PMID:20379614   PMID:20400778   PMID:20424473  
PMID:20427280   PMID:20457834   PMID:20479001   PMID:20508092   PMID:20574420   PMID:20613726   PMID:20624858   PMID:20630939   PMID:20677014   PMID:20808839   PMID:20959415   PMID:21072171  
PMID:21078868   PMID:21301863   PMID:21413024   PMID:21613417   PMID:21670298   PMID:21708048   PMID:21724437   PMID:21757754   PMID:21873635   PMID:22074915   PMID:22140451   PMID:22194818  
PMID:22331907   PMID:22446331   PMID:22474334   PMID:22504420   PMID:22538239   PMID:22547800   PMID:22710124   PMID:22896041   PMID:22899999   PMID:23232643   PMID:23237801   PMID:23255603  
PMID:23267835   PMID:23376485   PMID:23508624   PMID:23626738   PMID:23831469   PMID:23992640   PMID:24067659   PMID:24127525   PMID:24137539   PMID:24260325   PMID:24375290   PMID:24414257  
PMID:24457600   PMID:24476761   PMID:24569989   PMID:24602615   PMID:24696148   PMID:24705869   PMID:24759175   PMID:24954895   PMID:25070892   PMID:25108383   PMID:25201988   PMID:25345746  
PMID:25511389   PMID:25796627   PMID:26009545   PMID:26247146   PMID:26386726   PMID:26390131   PMID:26893360   PMID:26993604   PMID:27217576   PMID:27233075   PMID:27245839   PMID:27537208  
PMID:27567911   PMID:27592226   PMID:27729549   PMID:27758860   PMID:27763639   PMID:27880917   PMID:28028617   PMID:28075010   PMID:28231797   PMID:28246116   PMID:28428266   PMID:28474046  
PMID:28611215   PMID:28750098   PMID:28966112   PMID:29211342   PMID:29330545   PMID:29370161   PMID:29477869   PMID:30445932   PMID:31136842   PMID:31152168   PMID:31509109   PMID:31586073  
PMID:31815672   PMID:31851553   PMID:32132200   PMID:32513714   PMID:32586284   PMID:32597752   PMID:32933717   PMID:32958651   PMID:33076484   PMID:33248202   PMID:33660797   PMID:33974928  
PMID:34035423   PMID:34181803   PMID:34445066   PMID:34499417   PMID:34623245   PMID:34948357   PMID:35156297   PMID:37087578   PMID:37728576   PMID:37958656  


Genomics

Comparative Map Data
KCNMA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381076,869,602 - 77,637,808 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1076,869,601 - 77,638,369 (-)EnsemblGRCh38hg38GRCh38
GRCh371078,629,360 - 79,397,566 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361078,299,366 - 79,067,583 (-)NCBINCBI36Build 36hg18NCBI36
Build 341078,314,640 - 79,067,583NCBI
Celera1071,914,113 - 72,684,182 (-)NCBICelera
Cytogenetic Map10q22.3NCBI
HuRef1072,624,294 - 73,391,824 (-)NCBIHuRef
CHM1_11078,911,952 - 79,680,009 (-)NCBICHM1_1
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBIT2T-CHM13v2.0
Kcnma1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391423,342,356 - 24,055,173 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1423,339,499 - 24,064,559 (-)EnsemblGRCm39 Ensembl
GRCm381423,292,288 - 24,005,110 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1423,289,431 - 24,014,491 (-)EnsemblGRCm38mm10GRCm38
MGSCv371424,117,983 - 24,823,427 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361422,088,573 - 22,792,482 (-)NCBIMGSCv36mm8
Celera1419,676,577 - 20,379,488 (-)NCBICelera
Cytogenetic Map14A3NCBI
cM Map1412.92NCBI
Kcnma1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr815351,065 - 1,057,117 (+)NCBIGRCr8
mRatBN7.215302,480 - 1,007,675 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl15302,214 - 1,001,198 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx15309,515 - 1,014,692 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0151,696,105 - 2,401,327 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.015308,241 - 1,013,437 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.015344,204 - 1,048,849 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl15344,360 - 1,047,956 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.015339,100 - 1,037,105 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.415575,136 - 950,275 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.115322,288 - 950,273NCBI
Celera153,556,267 - 4,246,392 (-)NCBICelera
Cytogenetic Map15p16NCBI
Kcnma1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543714,749,914 - 15,454,028 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543714,749,808 - 15,457,274 (+)NCBIChiLan1.0ChiLan1.0
KCNMA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2889,019,281 - 89,786,611 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11089,024,606 - 89,791,821 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01073,391,297 - 74,158,488 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11076,053,915 - 76,820,639 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1076,062,047 - 76,820,644 (-)Ensemblpanpan1.1panPan2
KCNMA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1426,844,250 - 27,338,271 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl426,844,250 - 27,555,776 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha426,970,672 - 27,681,029 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0427,145,564 - 27,857,706 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl427,143,848 - 27,857,493 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1427,020,780 - 27,731,400 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0427,220,327 - 27,931,096 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0427,571,588 - 28,283,070 (-)NCBIUU_Cfam_GSD_1.0
Kcnma1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721353,507,382 - 54,220,539 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365212,000,109 - 2,705,365 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365212,000,113 - 2,706,010 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNMA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1479,352,005 - 80,106,295 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11479,345,382 - 80,106,337 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21485,796,582 - 85,996,706 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.21486,640,231 - 86,640,531 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.21486,138,921 - 86,358,528 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNMA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1953,727,790 - 54,557,252 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl954,182,910 - 54,554,716 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604814,223,140 - 14,987,512 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnma1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475410,153,809 - 10,885,079 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475410,152,635 - 10,885,239 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNMA1
941 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) deletion Cerebellar atrophy, developmental delay, and seizures [RCV001291702]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000558859]|not provided [RCV000732588] Chr10:77637592..77637612 [GRCh38]
Chr10:79397350..79397370 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.1224-4T>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001432805]|not specified [RCV000516922] Chr10:77090514 [GRCh38]
Chr10:78850272 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.117CTC[6] (p.Ser60del) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639909]|not provided [RCV001574599]|not specified [RCV000518738] Chr10:77637506..77637508 [GRCh38]
Chr10:79397264..79397266 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001161352.2(KCNMA1):c.697-4C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000553829] Chr10:77183536 [GRCh38]
Chr10:78943294 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1301A>G (p.Asp434Gly) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000010034]|not provided [RCV001090819] Chr10:77090433 [GRCh38]
Chr10:78850191 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001161352.2(KCNMA1):c.3093C>G (p.Pro1031=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639900] Chr10:76910020 [GRCh38]
Chr10:78669778 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.498G>A (p.Ala166=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001475516]|not provided [RCV000639902] Chr10:77403904 [GRCh38]
Chr10:79163662 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639905]|not provided [RCV001547232] Chr10:76891717 [GRCh38]
Chr10:78651475 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity
NM_001161352.2(KCNMA1):c.783T>C (p.Ser261=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000542279]|not provided [RCV001566504] Chr10:77183446 [GRCh38]
Chr10:78943204 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly) indel Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000550856]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002483417]|not provided [RCV000594761] Chr10:77637609..77637612 [GRCh38]
Chr10:79397367..79397370 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000547386] Chr10:76887327 [GRCh38]
Chr10:78647085 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity
NM_001161352.2(KCNMA1):c.1764A>G (p.Thr588=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001494036] Chr10:77039623 [GRCh38]
Chr10:78799381 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1500G>A (p.Ala500=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000554169] Chr10:77084660 [GRCh38]
Chr10:78844418 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.603-6T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001485143] Chr10:77184922 [GRCh38]
Chr10:78944680 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2544C>T (p.Gly848=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001401055]|not specified [RCV000517917] Chr10:76949307 [GRCh38]
Chr10:78709065 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000529704]|not provided [RCV001591227] Chr10:77183458 [GRCh38]
Chr10:78943216 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000298996]|Intellectual disability [RCV001252028]|not provided [RCV001706119]|not specified [RCV000173273] Chr10:77637609 [GRCh38]
Chr10:79397367 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000340068]|not provided [RCV000424316]|not specified [RCV000173278] Chr10:77637488..77637490 [GRCh38]
Chr10:79397246..79397248 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.2267-4446C>T single nucleotide variant Cerebellar atrophy, developmental delay, and seizures [RCV001331967] Chr10:76974513 [GRCh38]
Chr10:78734271 [GRCh37]
Chr10:78404277 [NCBI36]
Chr10:10q22.3
uncertain significance|not provided
NM_001014797.2(KCNMA1):c.2105-4447C>T single nucleotide variant Malignant melanoma [RCV000069043] Chr10:76974514 [GRCh38]
Chr10:78734272 [GRCh37]
Chr10:78404278 [NCBI36]
Chr10:10q22.3
not provided
NM_001014797.2(KCNMA1):c.1000A>G (p.Asn334Asp) single nucleotide variant Malignant melanoma [RCV000069044] Chr10:77110304 [GRCh38]
Chr10:78870062 [GRCh37]
Chr10:78540068 [NCBI36]
Chr10:10q22.3
not provided
NM_001161352.2(KCNMA1):c.31_54del (p.Ser11_Gly18del) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000534770]|not provided [RCV000117330] Chr10:77637589..77637612 [GRCh38]
Chr10:79397347..79397370 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001014797.2(KCNMA1):c.*887A>T single nucleotide variant Lung cancer [RCV000109349] Chr10:76876982 [GRCh38]
Chr10:78636740 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001014797.2(KCNMA1):c.3513G>T (p.Arg1171=) single nucleotide variant Lung cancer [RCV000109350] Chr10:76887302 [GRCh38]
Chr10:78647060 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001014797.2(KCNMA1):c.2548-1070A>G single nucleotide variant Lung cancer [RCV000109351] Chr10:76946035 [GRCh38]
Chr10:78705793 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001014797.2(KCNMA1):c.1523+2311G>T single nucleotide variant Lung cancer [RCV000109352] Chr10:77082326 [GRCh38]
Chr10:78842084 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001014797.2(KCNMA1):c.603-5946C>T single nucleotide variant Lung cancer [RCV000109353] Chr10:77190862 [GRCh38]
Chr10:78950620 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2367C>A (p.Asp789Glu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001320709]|not provided [RCV000117325] Chr10:76953918 [GRCh38]
Chr10:78713676 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000318760]|not provided [RCV001705838]|not specified [RCV000117322] Chr10:77079496 [GRCh38]
Chr10:78839254 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001085712]|not provided [RCV000725137]|not specified [RCV000117323] Chr10:77073166 [GRCh38]
Chr10:78832924 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.2015+7G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000303343]|not specified [RCV000117324] Chr10:77019006 [GRCh38]
Chr10:78778764 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000361656]|not provided [RCV001536830]|not specified [RCV000117326] Chr10:76953894 [GRCh38]
Chr10:78713652 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000306645]|not provided [RCV000859658]|not specified [RCV000117327] Chr10:76949325 [GRCh38]
Chr10:78709083 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.2710-8T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000310105]|not provided [RCV001705839]|not specified [RCV000117328] Chr10:76944973 [GRCh38]
Chr10:78704731 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000401590]|not provided [RCV000859643]|not specified [RCV000117329] Chr10:76891672 [GRCh38]
Chr10:78651430 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) single nucleotide variant Cerebellar atrophy, developmental delay, and seizures [RCV001730540]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000398300]|Liang-Wang syndrome [RCV001730541]|not provided [RCV000712119]|not specified [RCV000117331] Chr10:77184832 [GRCh38]
Chr10:78944590 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001085544]|not provided [RCV000712120]|not specified [RCV000117332] Chr10:77637553 [GRCh38]
Chr10:79397311 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000799461]|Inborn genetic diseases [RCV002517663]|not provided [RCV000173274] Chr10:77637581 [GRCh38]
Chr10:79397339 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000548229]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001535601]|Inborn genetic diseases [RCV002516582]|not provided [RCV001568924]|not specified [RCV000173275] Chr10:77637586..77637587 [GRCh38]
Chr10:79397344..79397345 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001161352.2(KCNMA1):c.138_161del (p.Ser53_Ser60del) deletion not provided [RCV000173276] Chr10:77637482..77637505 [GRCh38]
Chr10:79397240..79397263 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001495300]|not provided [RCV000173277] Chr10:77637451 [GRCh38]
Chr10:79397209 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000542633]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003483559]|not provided [RCV001709510]|not specified [RCV000173279] Chr10:77637470..77637481 [GRCh38]
Chr10:79397228..79397239 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance|not provided
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000391353]|not provided [RCV000514678]|not specified [RCV000153390] Chr10:77637505..77637506 [GRCh38]
Chr10:79397263..79397264 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001087883]|not provided [RCV000174728] Chr10:77073205 [GRCh38]
Chr10:78832963 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3
pathogenic
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2
pathogenic
GRCh38/hg38 10q22.3(chr10:77614550-77851809)x3 copy number gain See cases [RCV000139775] Chr10:77614550..77851809 [GRCh38]
Chr10:79374308..79611567 [GRCh37]
Chr10:79044314..79281573 [NCBI36]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000346196]|not provided [RCV001706128]|not specified [RCV000176188] Chr10:76949286 [GRCh38]
Chr10:78709044 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001161352.2(KCNMA1):c.2484+9G>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002516699]|not provided [RCV000176059] Chr10:76953792 [GRCh38]
Chr10:78713550 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.3506C>T (p.Thr1169Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001344191]|not provided [RCV000176731] Chr10:76887471 [GRCh38]
Chr10:78647229 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2914C>T (p.Pro972Ser) single nucleotide variant not provided [RCV000176391] Chr10:76915038 [GRCh38]
Chr10:78674796 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3342+10C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002054077]|not provided [RCV000176548] Chr10:76891515 [GRCh38]
Chr10:78651273 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000407683]|not provided [RCV001559680]|not specified [RCV000273227] Chr10:76949304 [GRCh38]
Chr10:78709062 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000388522]|not provided [RCV001200072]|not specified [RCV000295616] Chr10:77090414 [GRCh38]
Chr10:78850172 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.1054A>G (p.Thr352Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000200082] Chr10:77110250 [GRCh38]
Chr10:78870008 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001161352.2(KCNMA1):c.3051C>T (p.Asp1017=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639895]|not provided [RCV001582687]|not specified [RCV000194405] Chr10:76910062 [GRCh38]
Chr10:78669820 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000300299]|not provided [RCV000317390] Chr10:77637554 [GRCh38]
Chr10:79397312 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.378+503T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001196012] Chr10:77636762 [GRCh38]
Chr10:79396520 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000504575]|not provided [RCV000255423] Chr10:76891709 [GRCh38]
Chr10:78651467 [GRCh37]
Chr10:10q22.3
pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10q22.3(chr10:79361273-79576985)x3 copy number gain See cases [RCV000449041] Chr10:79361273..79576985 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000544542]|not provided [RCV001557737]|not specified [RCV000731423] Chr10:76949303 [GRCh38]
Chr10:78709061 [GRCh37]
Chr10:10q22.3
likely benign
Single allele duplication Autism spectrum disorder [RCV000225559] Chr10:79036437..79286611 [NCBI36]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000967171]|not provided [RCV001577288]|not specified [RCV000239215] Chr10:77403989 [GRCh38]
Chr10:79163747 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001161352.2(KCNMA1):c.378+868G>A single nucleotide variant not specified [RCV000239234] Chr10:77636397 [GRCh38]
Chr10:79396155 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000349858]|not provided [RCV000859648]|not specified [RCV000333353] Chr10:76891627 [GRCh38]
Chr10:78651385 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg) single nucleotide variant Inborn genetic diseases [RCV000623526]|Liang-Wang syndrome [RCV000991268]|not provided [RCV001783118] Chr10:77110181 [GRCh38]
Chr10:78869939 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic|uncertain significance
NM_001161352.2(KCNMA1):c.2283G>A (p.Pro761=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000266982] Chr10:76970051 [GRCh38]
Chr10:78729809 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.*497A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000267826] Chr10:76886769 [GRCh38]
Chr10:78646527 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.884+15G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000343614] Chr10:77120958 [GRCh38]
Chr10:78880716 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.*488C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000322883] Chr10:76886778 [GRCh38]
Chr10:78646536 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001161352.2(KCNMA1):c.*1571C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000269856] Chr10:76885695 [GRCh38]
Chr10:78645453 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001161352.2(KCNMA1):c.*1243T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000286173] Chr10:76886023 [GRCh38]
Chr10:78645781 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000287363]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002494945]|Inborn genetic diseases [RCV002520631]|not provided [RCV001557104] Chr10:77637461 [GRCh38]
Chr10:79397219 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*1288A>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000326050] Chr10:76885978 [GRCh38]
Chr10:78645736 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.*321C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000374218]|not provided [RCV001565536] Chr10:76886945 [GRCh38]
Chr10:78646703 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.*1765T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000329473] Chr10:76885501 [GRCh38]
Chr10:78645259 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.-25C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000330248] Chr10:77637667 [GRCh38]
Chr10:79397425 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*932G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000352479] Chr10:76886334 [GRCh38]
Chr10:78646092 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000291035]|not provided [RCV001532607] Chr10:77112382 [GRCh38]
Chr10:78872140 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000354779]|not provided [RCV001701996] Chr10:77079511 [GRCh38]
Chr10:78839269 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.*1284T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000380626] Chr10:76885982 [GRCh38]
Chr10:78645740 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1486G>A (p.Ala496Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000260032] Chr10:77084674 [GRCh38]
Chr10:78844432 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000334016] Chr10:77086521 [GRCh38]
Chr10:78846279 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.*2226A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000357208] Chr10:76885040 [GRCh38]
Chr10:78644798 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2015+5G>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000358098]|not provided [RCV003441834] Chr10:77019008 [GRCh38]
Chr10:78778766 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*1739G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000384092] Chr10:76885527 [GRCh38]
Chr10:78645285 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*1957C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000277785] Chr10:76885309 [GRCh38]
Chr10:78645067 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer) insertion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000277580]|not provided [RCV001582929] Chr10:77637627..77637628 [GRCh38]
Chr10:79397385..79397386 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity
NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000294272] Chr10:77108495 [GRCh38]
Chr10:78868253 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000295052]|not provided [RCV001570163] Chr10:76891534 [GRCh38]
Chr10:78651292 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.*690C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000312656] Chr10:76886576 [GRCh38]
Chr10:78646334 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.*834T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000407001] Chr10:76886432 [GRCh38]
Chr10:78646190 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*1022TTTG[1] microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000337613] Chr10:76886237..76886240 [GRCh38]
Chr10:78645995..78645998 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1749+11G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000263561]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002504060]|not provided [RCV001590921] Chr10:77073086 [GRCh38]
Chr10:78832844 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001161352.2(KCNMA1):c.*15G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000389340] Chr10:76887251 [GRCh38]
Chr10:78647009 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*411GTT[4] microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000264364] Chr10:76886841..76886843 [GRCh38]
Chr10:78646599..78646601 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*1006G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000297596] Chr10:76886260 [GRCh38]
Chr10:78646018 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*531C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000364014] Chr10:76886735 [GRCh38]
Chr10:78646493 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*1100C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000282456] Chr10:76886166 [GRCh38]
Chr10:78645924 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.*1202C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000341151] Chr10:76886064 [GRCh38]
Chr10:78645822 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*2325T>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000390981] Chr10:76884941 [GRCh38]
Chr10:78644699 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*2183C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000391014] Chr10:76885083 [GRCh38]
Chr10:78644841 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.31AGC[1] (p.Ser12del) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000391366] Chr10:77637607..77637609 [GRCh38]
Chr10:79397365..79397367 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*394C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000319525]|not provided [RCV003417977] Chr10:76886872 [GRCh38]
Chr10:78646630 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.*634C>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000367602] Chr10:76886632 [GRCh38]
Chr10:78646390 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.-101_-96dup duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000271650]|not provided [RCV001618521] Chr10:77637737..77637738 [GRCh38]
Chr10:79397495..79397496 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001161352.2(KCNMA1):c.3635C>T (p.Thr1212Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001245307]|not provided [RCV000381658] Chr10:76887342 [GRCh38]
Chr10:78647100 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.*570T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000273046] Chr10:76886696 [GRCh38]
Chr10:78646454 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.-104_-96dup duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000329224] Chr10:77637737..77637738 [GRCh38]
Chr10:79397495..79397496 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*113dup duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000334277] Chr10:76887152..76887153 [GRCh38]
Chr10:78646910..78646911 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.*2373dup duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000342057] Chr10:76884892..76884893 [GRCh38]
Chr10:78644650..78644651 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*1887G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000274373] Chr10:76885379 [GRCh38]
Chr10:78645137 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*2015TA[7] microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000353853] Chr10:76885239..76885240 [GRCh38]
Chr10:78644997..78644998 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000703033]|Inborn genetic diseases [RCV003362746]|not provided [RCV000392430] Chr10:76949176 [GRCh38]
Chr10:78708934 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.-116GGC[7] microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000381531] Chr10:77637740..77637741 [GRCh38]
Chr10:79397498..79397499 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1131+11dup duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000385160] Chr10:77110161..77110162 [GRCh38]
Chr10:78869919..78869920 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.711C>T (p.Asn237=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001078615]|not provided [RCV000358149] Chr10:77183518 [GRCh38]
Chr10:78943276 [GRCh37]
Chr10:10q22.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.2436T>C (p.Thr812=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001448104]|not provided [RCV000365434] Chr10:76953849 [GRCh38]
Chr10:78713607 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.2092C>T (p.Pro698Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001066786]|not provided [RCV000264881] Chr10:77011967 [GRCh38]
Chr10:78771725 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.24C>T (p.Gly8=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001087583]|not provided [RCV000331890] Chr10:77637619 [GRCh38]
Chr10:79397377 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.*223A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000279269] Chr10:76887043 [GRCh38]
Chr10:78646801 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1305C>T (p.Asp435=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002059114]|not provided [RCV000404665] Chr10:77090429 [GRCh38]
Chr10:78850187 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.2710-19dup duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002060209]|not provided [RCV000514697] Chr10:76944983..76944984 [GRCh38]
Chr10:78704741..78704742 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001161352.2(KCNMA1):c.1224-197C>T single nucleotide variant not provided [RCV001566583] Chr10:77090707 [GRCh38]
Chr10:78850465 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1929T>C (p.Arg643=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002525986]|not provided [RCV000487790] Chr10:77019099 [GRCh38]
Chr10:78778857 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3259A>G (p.Ser1087Gly) single nucleotide variant not provided [RCV003223871] Chr10:76891608 [GRCh38]
Chr10:78651366 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.123C>A (p.Ser41=) single nucleotide variant not provided [RCV000488088] Chr10:77637520 [GRCh38]
Chr10:79397278 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2902G>T (p.Gly968Trp) single nucleotide variant not provided [RCV000488390] Chr10:76944773 [GRCh38]
Chr10:78704531 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*2278G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000302403] Chr10:76884988 [GRCh38]
Chr10:78644746 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001088769]|not provided [RCV000596921] Chr10:77090447 [GRCh38]
Chr10:78850205 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.1131+13C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000330607] Chr10:77110160 [GRCh38]
Chr10:78869918 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*1937T>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000332899] Chr10:76885329 [GRCh38]
Chr10:78645087 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.-57G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000368550] Chr10:77637699 [GRCh38]
Chr10:79397457 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*1935A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000368876] Chr10:76885331 [GRCh38]
Chr10:78645089 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*1025G>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000406990] Chr10:76886241 [GRCh38]
Chr10:78645999 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000370095]|Inborn genetic diseases [RCV002520632]|KCNMA1-related condition [RCV003391061]|Seizure [RCV001281492] Chr10:77637612 [GRCh38]
Chr10:79397370 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*539T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000309299] Chr10:76886727 [GRCh38]
Chr10:78646485 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*2117G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000298798] Chr10:76885149 [GRCh38]
Chr10:78644907 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.49G>C (p.Gly17Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000357305] Chr10:77637594 [GRCh38]
Chr10:79397352 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*1165C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000376998] Chr10:76886101 [GRCh38]
Chr10:78645859 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*429CTTT[2] microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000377632] Chr10:76886826..76886829 [GRCh38]
Chr10:78646584..78646587 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2770G>A (p.Val924Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001860221]|not provided [RCV000592315] Chr10:76944905 [GRCh38]
Chr10:78704663 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000528395]|not provided [RCV001564214] Chr10:77110248 [GRCh38]
Chr10:78870006 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001161352.2(KCNMA1):c.31_48dup (p.Ser11_Gly16dup) duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001038765]|not provided [RCV000597938] Chr10:77637594..77637595 [GRCh38]
Chr10:79397352..79397353 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1218A>G (p.Gly406=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639906]|not provided [RCV000593456] Chr10:77108486 [GRCh38]
Chr10:78868244 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.2070A>T (p.Ile690=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639899] Chr10:77011989 [GRCh38]
Chr10:78771747 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2847C>T (p.Asn949=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639901] Chr10:76944828 [GRCh38]
Chr10:78704586 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001085367]|not provided [RCV000591083] Chr10:76914987 [GRCh38]
Chr10:78674745 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.3416G>A (p.Arg1139Gln) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639892] Chr10:76889496 [GRCh38]
Chr10:78649254 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.13GGC[7] (p.Gly10dup) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639893]|not provided [RCV001815362] Chr10:77637612..77637613 [GRCh38]
Chr10:79397370..79397371 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.1737G>A (p.Arg579=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639903]|not provided [RCV001090818] Chr10:77073109 [GRCh38]
Chr10:78832867 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3318C>T (p.Leu1106=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639904]|not provided [RCV003420121] Chr10:76891549 [GRCh38]
Chr10:78651307 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1224-6G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001395972]|not provided [RCV000591573] Chr10:77090516 [GRCh38]
Chr10:78850274 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.2361-304G>A single nucleotide variant not provided [RCV001545281] Chr10:76954228 [GRCh38]
Chr10:78713986 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1361C>A (p.Ala454Asp) single nucleotide variant Spastic ataxia [RCV000415432] Chr10:77086567 [GRCh38]
Chr10:78846325 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.127T>A (p.Ser43Thr) single nucleotide variant not provided [RCV000416228] Chr10:77637516 [GRCh38]
Chr10:79397274 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.414G>A (p.Ala138=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001078873]|not provided [RCV000733200] Chr10:77403988 [GRCh38]
Chr10:79163746 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.3653G>A (p.Arg1218Gln) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000707196]|not specified [RCV000412806] Chr10:76887324 [GRCh38]
Chr10:78647082 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3144C>T (p.Ser1048=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000545600]|not provided [RCV001560379] Chr10:76909969 [GRCh38]
Chr10:78669727 [GRCh37]
Chr10:10q22.3
likely benign
GRCh37/hg19 10q22.2-22.3(chr10:75542067-79428995)x1 copy number loss See cases [RCV000447510] Chr10:75542067..79428995 [GRCh37]
Chr10:10q22.2-22.3
pathogenic
NM_001161352.2(KCNMA1):c.378+808C>A single nucleotide variant not provided [RCV000440099] Chr10:77636457 [GRCh38]
Chr10:79396215 [GRCh37]
Chr10:10q22.3
likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_001161352.2(KCNMA1):c.2824G>A (p.Glu942Lys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000504574] Chr10:76944851 [GRCh38]
Chr10:78704609 [GRCh37]
Chr10:10q22.3
pathogenic
KCNMA1, ASN1053SER single nucleotide variant Generalized epilepsy and paroxysmal dyskinesia [RCV000504575] Chr10:10q22.3 pathogenic
NM_001161352.2(KCNMA1):c.2026dup (p.Tyr676fs) duplication Cerebellar atrophy, developmental delay, and seizures [RCV000504577] Chr10:77012032..77012033 [GRCh38]
Chr10:78771790..78771791 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001161352.2(KCNMA1):c.825A>G (p.Arg275=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001406948]|not specified [RCV000502877] Chr10:77121032 [GRCh38]
Chr10:78880790 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_001161352.2(KCNMA1):c.30C>T (p.Gly10=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001246586] Chr10:77637613 [GRCh38]
Chr10:79397371 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1413C>A (p.Leu471=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000541874] Chr10:77086515 [GRCh38]
Chr10:78846273 [GRCh37]
Chr10:10q22.3
likely benign
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000536419]|KCNMA1-related condition [RCV003424108]|not provided [RCV001796105]|not specified [RCV000734743] Chr10:77637506..77637511 [GRCh38]
Chr10:79397264..79397269 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.667G>A (p.Val223Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000541215] Chr10:77184852 [GRCh38]
Chr10:78944610 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2350A>G (p.Lys784Glu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639887] Chr10:76969984 [GRCh38]
Chr10:78729742 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639890]|not provided [RCV001549520] Chr10:76909966 [GRCh38]
Chr10:78669724 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.2937A>G (p.Pro979=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639897]|not provided [RCV001568849] Chr10:76915015 [GRCh38]
Chr10:78674773 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001161352.2(KCNMA1):c.1614G>A (p.Pro538=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001087149]|not provided [RCV000594758] Chr10:77073232 [GRCh38]
Chr10:78832990 [GRCh37]
Chr10:10q22.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.809G>A (p.Gly270Asp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001229375]|not provided [RCV000524093] Chr10:77121048 [GRCh38]
Chr10:78880806 [GRCh37]
Chr10:10q22.3
likely pathogenic|uncertain significance
NM_001161352.2(KCNMA1):c.2484+7G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639898]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003224360]|not specified [RCV000729892] Chr10:76953794 [GRCh38]
Chr10:78713552 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001161352.2(KCNMA1):c.2838G>A (p.Ala946=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639907]|not provided [RCV001584472] Chr10:76944837 [GRCh38]
Chr10:78704595 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.469G>C (p.Gly157Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639888] Chr10:77403933 [GRCh38]
Chr10:79163691 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639889]|Inborn genetic diseases [RCV002533245]|Intellectual disability [RCV001252027]|not provided [RCV001584471] Chr10:77637627 [GRCh38]
Chr10:79397385 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.1181G>A (p.Arg394His) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639891]|not provided [RCV001861662] Chr10:77108523 [GRCh38]
Chr10:78868281 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2769C>T (p.Cys923=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001392218] Chr10:76944906 [GRCh38]
Chr10:78704664 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3441C>G (p.Thr1147=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639908] Chr10:76889471 [GRCh38]
Chr10:78649229 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3148-8T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001088785]|not provided [RCV000595843] Chr10:76891727 [GRCh38]
Chr10:78651485 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000763671]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001065455]|Inborn genetic diseases [RCV003160047]|not provided [RCV000595977] Chr10:77403942 [GRCh38]
Chr10:79163700 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2165C>T (p.Ser722Leu) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 16 [RCV001591163]|Inborn genetic diseases [RCV002527397]|not provided [RCV000512936] Chr10:77001508 [GRCh38]
Chr10:78761266 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.37_63del (p.Gly13_Ser21del) deletion not provided [RCV000513226] Chr10:77637580..77637606 [GRCh38]
Chr10:79397338..79397364 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.399T>A (p.Asn133Lys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002530831]|not provided [RCV000585420] Chr10:77404003 [GRCh38]
Chr10:79163761 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3507G>A (p.Thr1169=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000689740]|not provided [RCV000513549] Chr10:76887470 [GRCh38]
Chr10:78647228 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.92C>G (p.Ala31Gly) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000698278] Chr10:77637551 [GRCh38]
Chr10:79397309 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1880A>G (p.Lys627Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002534278]|Liang-Wang syndrome [RCV003152723]|not provided [RCV000658257] Chr10:77027871 [GRCh38]
Chr10:78787629 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1060G>A (p.Gly354Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000680016] Chr10:77110244 [GRCh38]
Chr10:78870002 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32
pathogenic
NM_001161352.2(KCNMA1):c.85A>G (p.Ile29Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000701689]|not provided [RCV000730842] Chr10:77637558 [GRCh38]
Chr10:79397316 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.460G>A (p.Ala154Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000690591] Chr10:77403942 [GRCh38]
Chr10:79163700 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.483C>T (p.Ser161=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104492]|not provided [RCV000712118] Chr10:77403919 [GRCh38]
Chr10:79163677 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.31AGC[3] (p.Ser12dup) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000704989]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002485759]|not provided [RCV001577232] Chr10:77637606..77637607 [GRCh38]
Chr10:79397364..79397365 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.31_48del (p.Ser11_Gly16del) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000688056] Chr10:77637595..77637612 [GRCh38]
Chr10:79397353..79397370 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2469A>C (p.Ile823=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001395833]|not provided [RCV000712117] Chr10:76953816 [GRCh38]
Chr10:78713574 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3557G>A (p.Arg1186Gln) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000698557]|not provided [RCV000761731] Chr10:76887420 [GRCh38]
Chr10:78647178 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2846A>G (p.Asn949Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000710351] Chr10:76944829 [GRCh38]
Chr10:78704587 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001161352.2(KCNMA1):c.960+157C>A single nucleotide variant not provided [RCV001643949] Chr10:77112210 [GRCh38]
Chr10:78871968 [GRCh37]
Chr10:10q22.3
benign
GRCh37/hg19 10q22.3(chr10:79187957-79209190)x1 copy number loss not provided [RCV000737190] Chr10:79187957..79209190 [GRCh37]
Chr10:10q22.3
benign
GRCh37/hg19 10q22.3(chr10:79280893-79342926)x1 copy number loss not provided [RCV000737191] Chr10:79280893..79342926 [GRCh37]
Chr10:10q22.3
benign
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_001161352.2(KCNMA1):c.1950C>T (p.Asn650=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001499790] Chr10:77019078 [GRCh38]
Chr10:78778836 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2485-41C>T single nucleotide variant not provided [RCV001572491] Chr10:76949407 [GRCh38]
Chr10:78709165 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1224-52G>C single nucleotide variant not provided [RCV001534337] Chr10:77090562 [GRCh38]
Chr10:78850320 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.3016+554G>A single nucleotide variant not provided [RCV001679369] Chr10:76914382 [GRCh38]
Chr10:78674140 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.3342+144T>C single nucleotide variant not provided [RCV001547557] Chr10:76891381 [GRCh38]
Chr10:78651139 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3148-34A>G single nucleotide variant not provided [RCV001548142] Chr10:76891753 [GRCh38]
Chr10:78651511 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.681C>A (p.Leu227=) single nucleotide variant not provided [RCV000976398] Chr10:77184838 [GRCh38]
Chr10:78944596 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001079483]|not provided [RCV000761732] Chr10:76953887 [GRCh38]
Chr10:78713645 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.1181G>T (p.Arg394Leu) single nucleotide variant not provided [RCV003238973] Chr10:77108523 [GRCh38]
Chr10:78868281 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1524-76G>T single nucleotide variant not provided [RCV001645673] Chr10:77079626 [GRCh38]
Chr10:78839384 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.2092+3944_2092+3955del deletion not provided [RCV001649068] Chr10:77008012..77008023 [GRCh38]
Chr10:78767770..78767781 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.2484+1307G>A single nucleotide variant not provided [RCV001564323] Chr10:76952494 [GRCh38]
Chr10:78712252 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.960+283del deletion not provided [RCV001577065] Chr10:77112084 [GRCh38]
Chr10:78871842 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1223+289G>A single nucleotide variant not provided [RCV001641017] Chr10:77108192 [GRCh38]
Chr10:78867950 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.2485-178G>A single nucleotide variant not provided [RCV001682208] Chr10:76949544 [GRCh38]
Chr10:78709302 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1334+325C>A single nucleotide variant not provided [RCV001565455] Chr10:77090075 [GRCh38]
Chr10:78849833 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2360+133G>A single nucleotide variant not provided [RCV001552014] Chr10:76969841 [GRCh38]
Chr10:78729599 [GRCh37]
Chr10:10q22.3
likely benign
D984N variation Liang-Wang syndrome [RCV000991272] Chr10:10q22.3 pathogenic
NM_001161352.2(KCNMA1):c.1928+2577_1928+2582del deletion not provided [RCV001668693] Chr10:77025241..77025246 [GRCh38]
Chr10:78784999..78785004 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.961-30C>G single nucleotide variant not provided [RCV001568429] Chr10:77110373 [GRCh38]
Chr10:78870131 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2267-265_2267-263del deletion not provided [RCV001583785] Chr10:76970330..76970332 [GRCh38]
Chr10:78730088..78730090 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.378+76G>T single nucleotide variant not provided [RCV001586410] Chr10:77637189 [GRCh38]
Chr10:79396947 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000951369]|not provided [RCV001558335] Chr10:77090507 [GRCh38]
Chr10:78850265 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity
NM_001161352.2(KCNMA1):c.1917C>T (p.Asn639=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001437193] Chr10:77027834 [GRCh38]
Chr10:78787592 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.144T>C (p.Ser48=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000921994]|not provided [RCV002292594] Chr10:77637499 [GRCh38]
Chr10:79397257 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001161352.2(KCNMA1):c.468C>T (p.Val156=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001406874] Chr10:77403934 [GRCh38]
Chr10:79163692 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3072A>G (p.Thr1024=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000937412] Chr10:76910041 [GRCh38]
Chr10:78669799 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3627C>T (p.Ile1209=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000966711]|not provided [RCV001593154] Chr10:76887350 [GRCh38]
Chr10:78647108 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.1919G>A (p.Arg640Gln) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000945495]|not provided [RCV001593135] Chr10:77027832 [GRCh38]
Chr10:78787590 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.2577C>T (p.Asn859=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000904621] Chr10:76949274 [GRCh38]
Chr10:78709032 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.603-5A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000902081] Chr10:77184921 [GRCh38]
Chr10:78944679 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.354C>T (p.Cys118=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001450218] Chr10:77637289 [GRCh38]
Chr10:79397047 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2994C>T (p.Asn998=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000926326] Chr10:76914958 [GRCh38]
Chr10:78674716 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000900164]|not provided [RCV003413717] Chr10:76887389 [GRCh38]
Chr10:78647147 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity
NM_001161352.2(KCNMA1):c.1653C>T (p.Leu551=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000902449] Chr10:77073193 [GRCh38]
Chr10:78832951 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1306G>A (p.Val436Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001069344]|Inborn genetic diseases [RCV002554575]|not provided [RCV002291716] Chr10:77090428 [GRCh38]
Chr10:78850186 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.378+771G>C single nucleotide variant not provided [RCV001581733] Chr10:77636494 [GRCh38]
Chr10:79396252 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3263C>T (p.Thr1088Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001035295] Chr10:76891604 [GRCh38]
Chr10:78651362 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.632A>G (p.Lys211Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001062000] Chr10:77184887 [GRCh38]
Chr10:78944645 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.298_309del (p.Gly100_Phe103del) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001048129] Chr10:77637334..77637345 [GRCh38]
Chr10:79397092..79397103 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3673C>T (p.Arg1225Trp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001052247]|KCNMA1-related condition [RCV003405257]|not provided [RCV001571855] Chr10:76887304 [GRCh38]
Chr10:78647062 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.13GGC[2] (p.Gly7_Gly10del) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001059708] Chr10:77637613..77637624 [GRCh38]
Chr10:79397371..79397382 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3652C>T (p.Arg1218Trp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001051931] Chr10:76887325 [GRCh38]
Chr10:78647083 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2327G>A (p.Arg776Gln) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001037774]|Inborn genetic diseases [RCV003243408] Chr10:76970007 [GRCh38]
Chr10:78729765 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.144TTC[1] (p.Ser58_Ser60del) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001050544] Chr10:77637488..77637496 [GRCh38]
Chr10:79397246..79397254 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.16_33del (p.Gly6_Ser11del) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001039929] Chr10:77637610..77637627 [GRCh38]
Chr10:79397368..79397385 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.36CGG[9] (p.Gly19_Gly20dup) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000791584]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003128412]|not provided [RCV003317368] Chr10:77637586..77637587 [GRCh38]
Chr10:79397344..79397345 [GRCh37]
Chr10:10q22.3
uncertain significance|not provided
NM_001161352.2(KCNMA1):c.2660A>G (p.Lys887Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000768247]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001869059]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003224444] Chr10:76949191 [GRCh38]
Chr10:78708949 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2814G>T (p.Leu938=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001493972] Chr10:76944861 [GRCh38]
Chr10:78704619 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1122C>T (p.Leu374=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001481411]|not provided [RCV000939675] Chr10:77110182 [GRCh38]
Chr10:78869940 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1623T>C (p.Asn541=) single nucleotide variant not provided [RCV000933073] Chr10:77073223 [GRCh38]
Chr10:78832981 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3017-5T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000978996] Chr10:76910101 [GRCh38]
Chr10:78669859 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2693A>G (p.Lys898Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000886663]|not provided [RCV001560246] Chr10:76949158 [GRCh38]
Chr10:78708916 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.884+8G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000977990] Chr10:77120965 [GRCh38]
Chr10:78880723 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2267-7T>C single nucleotide variant not provided [RCV000922884] Chr10:76970074 [GRCh38]
Chr10:78729832 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1239C>T (p.Cys413=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000919775]|not provided [RCV001702572] Chr10:77090495 [GRCh38]
Chr10:78850253 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3462-10C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001520497]|not provided [RCV000942985] Chr10:76887525 [GRCh38]
Chr10:78647283 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001161352.2(KCNMA1):c.1224-8C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000942016] Chr10:77090518 [GRCh38]
Chr10:78850276 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2676G>A (p.Thr892=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001397151] Chr10:76949175 [GRCh38]
Chr10:78708933 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2280G>A (p.Gln760=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000929978]|not provided [RCV001585871] Chr10:76970054 [GRCh38]
Chr10:78729812 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3030T>C (p.Asn1010=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000978786] Chr10:76910083 [GRCh38]
Chr10:78669841 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.207C>T (p.Leu69=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000916923] Chr10:77637436 [GRCh38]
Chr10:79397194 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.993C>T (p.Phe331=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000981349] Chr10:77110311 [GRCh38]
Chr10:78870069 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1486G>T (p.Ala496Ser) single nucleotide variant not provided [RCV003314218] Chr10:77084674 [GRCh38]
Chr10:78844432 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.310A>G (p.Ile104Val) single nucleotide variant Inborn genetic diseases [RCV003271250] Chr10:77637333 [GRCh38]
Chr10:79397091 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1632A>C (p.Glu544Asp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000817338] Chr10:77073214 [GRCh38]
Chr10:78832972 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1593+10C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000797260] Chr10:77079471 [GRCh38]
Chr10:78839229 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.1494G>A (p.Pro498=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000821386] Chr10:77084666 [GRCh38]
Chr10:78844424 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.187G>C (p.Glu63Gln) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000803660] Chr10:77637456 [GRCh38]
Chr10:79397214 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.179C>G (p.Ser60Trp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000799033] Chr10:77637464 [GRCh38]
Chr10:79397222 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3556C>T (p.Arg1186Trp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000795906]|Inborn genetic diseases [RCV002534589]|not provided [RCV001556605] Chr10:76887421 [GRCh38]
Chr10:78647179 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3182G>A (p.Arg1061Gln) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000805950] Chr10:76891685 [GRCh38]
Chr10:78651443 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2291T>C (p.Leu764Pro) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000792634] Chr10:76970043 [GRCh38]
Chr10:78729801 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000812226]|not provided [RCV001580549] Chr10:77637587..77637613 [GRCh38]
Chr10:79397345..79397371 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1622A>G (p.Asn541Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000812403] Chr10:77073224 [GRCh38]
Chr10:78832982 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.340C>A (p.Leu114Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000813847] Chr10:77637303 [GRCh38]
Chr10:79397061 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1749+6G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000801564]|not provided [RCV001567585] Chr10:77073091 [GRCh38]
Chr10:78832849 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
G356R variation Liang-Wang syndrome [RCV000991270] Chr10:10q22.3 pathogenic
NM_001161352.2(KCNMA1):c.1372C>T (p.Arg458Ter) single nucleotide variant Cerebellar atrophy, developmental delay, and seizures [RCV000852286] Chr10:77086556 [GRCh38]
Chr10:78846314 [GRCh37]
Chr10:10q22.3
pathogenic
GRCh37/hg19 10q22.3(chr10:79081072-79635897)x3 copy number gain not provided [RCV000847167] Chr10:79081072..79635897 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1750-3T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001352109]|not provided [RCV000994464] Chr10:77039640 [GRCh38]
Chr10:78799398 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3581A>G (p.His1194Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000801578] Chr10:76887396 [GRCh38]
Chr10:78647154 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.36CGG[4] (p.Gly18_Gly20del) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000793943] Chr10:77637587..77637595 [GRCh38]
Chr10:79397345..79397353 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.626T>C (p.Phe209Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000810611] Chr10:77184893 [GRCh38]
Chr10:78944651 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1952A>C (p.His651Pro) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000822214] Chr10:77019076 [GRCh38]
Chr10:78778834 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1701C>T (p.Gly567=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000799689] Chr10:77073145 [GRCh38]
Chr10:78832903 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.13GGC[5] (p.Gly10del) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000813680] Chr10:77637613..77637615 [GRCh38]
Chr10:79397371..79397373 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1831G>A (p.Val611Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000823726] Chr10:77039556 [GRCh38]
Chr10:78799314 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q22.3(chr10:79172158-79238337)x1 copy number loss not provided [RCV001006338] Chr10:79172158..79238337 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1052C>A (p.Ser351Tyr) single nucleotide variant Liang-Wang syndrome [RCV000991269] Chr10:77110252 [GRCh38]
Chr10:78870010 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001161352.2(KCNMA1):c.1918C>T (p.Arg640Ter) single nucleotide variant not provided [RCV001008681] Chr10:77027833 [GRCh38]
Chr10:78787591 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001161352.2(KCNMA1):c.3480G>A (p.Pro1160=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000892619] Chr10:76887497 [GRCh38]
Chr10:78647255 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.558T>C (p.Ala186=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001418434] Chr10:77251239 [GRCh38]
Chr10:79010997 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.348C>G (p.Thr116=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000936840] Chr10:77637295 [GRCh38]
Chr10:79397053 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3387A>G (p.Thr1129=) single nucleotide variant not provided [RCV000936900] Chr10:76889525 [GRCh38]
Chr10:78649283 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2593C>T (p.Arg865Cys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001869382]|not provided [RCV000994463] Chr10:76949258 [GRCh38]
Chr10:78709016 [GRCh37]
Chr10:10q22.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.369del (p.Lys124fs) deletion not provided [RCV001009050] Chr10:77637274 [GRCh38]
Chr10:79397032 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001161352.2(KCNMA1):c.802T>C (p.Trp268Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001203102] Chr10:77183427 [GRCh38]
Chr10:78943185 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.327G>T (p.Arg109=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001248724] Chr10:77637316 [GRCh38]
Chr10:79397074 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.1987A>G (p.Ile663Val) single nucleotide variant Liang-Wang syndrome [RCV002269341]|not provided [RCV001171549] Chr10:77019041 [GRCh38]
Chr10:78778799 [GRCh37]
Chr10:10q22.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.117CTC[9] (p.Ser59_Ser60dup) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001208181] Chr10:77637505..77637506 [GRCh38]
Chr10:79397263..79397264 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2342C>A (p.Thr781Asn) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001219981] Chr10:76969992 [GRCh38]
Chr10:78729750 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.13GGC[8] (p.Gly9_Gly10dup) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001208774]|not provided [RCV001751382] Chr10:77637612..77637613 [GRCh38]
Chr10:79397370..79397371 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.659C>T (p.Ala220Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001237111] Chr10:77184860 [GRCh38]
Chr10:78944618 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3643C>T (p.Arg1215Ter) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001227232] Chr10:76887334 [GRCh38]
Chr10:78647092 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.173C>T (p.Ser58Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001214218] Chr10:77637470 [GRCh38]
Chr10:79397228 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3016+6G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001216059] Chr10:76914930 [GRCh38]
Chr10:78674688 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2405T>C (p.Met802Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001217464]|Inborn genetic diseases [RCV002561923]|not provided [RCV002267084] Chr10:76953880 [GRCh38]
Chr10:78713638 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.55_60dup (p.Gly19_Gly20dup) duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001223349] Chr10:77637582..77637583 [GRCh38]
Chr10:79397340..79397341 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1847C>G (p.Pro616Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001221183] Chr10:77039540 [GRCh38]
Chr10:78799298 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3584C>T (p.Ser1195Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001224322] Chr10:76887393 [GRCh38]
Chr10:78647151 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.454G>A (p.Val152Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001221655] Chr10:77403948 [GRCh38]
Chr10:79163706 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2714C>G (p.Thr905Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001224478] Chr10:76944961 [GRCh38]
Chr10:78704719 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1321G>A (p.Val441Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001204275] Chr10:77090413 [GRCh38]
Chr10:78850171 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.117CTC[10] (p.Ser58_Ser60dup) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001204443] Chr10:77637505..77637506 [GRCh38]
Chr10:79397263..79397264 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1783G>A (p.Glu595Lys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001197767] Chr10:77039604 [GRCh38]
Chr10:78799362 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3547G>C (p.Gly1183Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001202748] Chr10:76887430 [GRCh38]
Chr10:78647188 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3670T>C (p.Ser1224Pro) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001323994]|Inborn genetic diseases [RCV003160126]|See cases [RCV002252293]|not provided [RCV000994459] Chr10:76887307 [GRCh38]
Chr10:78647065 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3002T>C (p.Ile1001Thr) single nucleotide variant not provided [RCV000994460] Chr10:76914950 [GRCh38]
Chr10:78674708 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2981C>T (p.Thr994Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104405]|Inborn genetic diseases [RCV002549870]|See cases [RCV003128560]|not provided [RCV000994461] Chr10:76914971 [GRCh38]
Chr10:78674729 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1554G>T (p.Lys518Asn) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001045228]|not provided [RCV000994465] Chr10:77079520 [GRCh38]
Chr10:78839278 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.378+834G>A single nucleotide variant not provided [RCV000994466] Chr10:77636431 [GRCh38]
Chr10:79396189 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3654G>A (p.Arg1218=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104093] Chr10:76887323 [GRCh38]
Chr10:78647081 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.2786del (p.Asn929fs) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001065360] Chr10:76944889 [GRCh38]
Chr10:78704647 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001161352.2(KCNMA1):c.2681A>G (p.His894Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001229310] Chr10:76949170 [GRCh38]
Chr10:78708928 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2488C>T (p.Arg830Ter) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001212768] Chr10:76949363 [GRCh38]
Chr10:78709121 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001161352.2(KCNMA1):c.280T>G (p.Ser94Ala) single nucleotide variant Autism spectrum disorder [RCV003127239] Chr10:77637363 [GRCh38]
Chr10:79397121 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.378+15G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003104852] Chr10:77637250 [GRCh38]
Chr10:79397008 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1845C>G (p.Phe615Leu) single nucleotide variant Autism spectrum disorder [RCV003127290] Chr10:77039542 [GRCh38]
Chr10:78799300 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001161352.2(KCNMA1):c.2798T>C (p.Ile933Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003106373] Chr10:76944877 [GRCh38]
Chr10:78704635 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.378+621del deletion not provided [RCV001549578] Chr10:77636644 [GRCh38]
Chr10:79396402 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2485-337A>G single nucleotide variant not provided [RCV001569244] Chr10:76949703 [GRCh38]
Chr10:78709461 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3664A>G (p.Arg1222Gly) single nucleotide variant not provided [RCV001569324] Chr10:76887313 [GRCh38]
Chr10:78647071 [GRCh37]
Chr10:10q22.3
uncertain significance
NC_000010.10:g.(?_78844375)_(78846371_?)del deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003107613] Chr10:78844375..78846371 [GRCh37]
Chr10:10q22.3
uncertain significance
NC_000010.10:g.(?_78943159)_(78944694_?)dup duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003107614] Chr10:78943159..78944694 [GRCh37]
Chr10:10q22.3
likely pathogenic
NC_000010.10:g.(?_79397003)_(79603484_?)dup duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003107615] Chr10:79397003..79603484 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1928+2542A>G single nucleotide variant not provided [RCV001546972] Chr10:77025281 [GRCh38]
Chr10:78785039 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.885-37G>C single nucleotide variant not provided [RCV001574630] Chr10:77112479 [GRCh38]
Chr10:78872237 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3147+291A>T single nucleotide variant not provided [RCV001553152] Chr10:76909675 [GRCh38]
Chr10:78669433 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.541-69A>G single nucleotide variant not provided [RCV001561242] Chr10:77251325 [GRCh38]
Chr10:79011083 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1132-256G>T single nucleotide variant not provided [RCV001716022] Chr10:77108828 [GRCh38]
Chr10:78868586 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.2267-266_2267-263del deletion not provided [RCV001618164] Chr10:76970330..76970333 [GRCh38]
Chr10:78730088..78730091 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1593+78AC[22] microsatellite not provided [RCV001668892] Chr10:77079369..77079370 [GRCh38]
Chr10:78839127..78839128 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1594-154G>A single nucleotide variant not provided [RCV001550943] Chr10:77073406 [GRCh38]
Chr10:78833164 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3016+1119C>T single nucleotide variant not provided [RCV001593753] Chr10:76913817 [GRCh38]
Chr10:78673575 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3017-330A>C single nucleotide variant not provided [RCV001594037] Chr10:76910426 [GRCh38]
Chr10:78670184 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3147+149A>G single nucleotide variant not provided [RCV001652377] Chr10:76909817 [GRCh38]
Chr10:78669575 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.3016+73G>T single nucleotide variant not provided [RCV001551534] Chr10:76914863 [GRCh38]
Chr10:78674621 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3461+237C>T single nucleotide variant not provided [RCV001611542] Chr10:76889214 [GRCh38]
Chr10:78648972 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1440+169G>C single nucleotide variant not provided [RCV001557832] Chr10:77086319 [GRCh38]
Chr10:78846077 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3016+1103C>T single nucleotide variant not provided [RCV001592349] Chr10:76913833 [GRCh38]
Chr10:78673591 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2485-191A>G single nucleotide variant not provided [RCV001614425] Chr10:76949557 [GRCh38]
Chr10:78709315 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1928+2580AC[4] microsatellite not provided [RCV001649734] Chr10:77025234..77025235 [GRCh38]
Chr10:78784992..78784993 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.156CTC[2] (p.Ser60del) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002568305]|not provided [RCV001549410] Chr10:77637479..77637481 [GRCh38]
Chr10:79397237..79397239 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2282C>T (p.Pro761Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002570694]|Liang-Wang syndrome [RCV001729946]|not provided [RCV001552360] Chr10:76970052 [GRCh38]
Chr10:78729810 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2267-267_2267-263del deletion not provided [RCV001558808] Chr10:76970330..76970334 [GRCh38]
Chr10:78730088..78730092 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1441-114dup duplication not provided [RCV001718483] Chr10:77084821..77084822 [GRCh38]
Chr10:78844579..78844580 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.3016+1054C>A single nucleotide variant not provided [RCV001614235] Chr10:76913882 [GRCh38]
Chr10:78673640 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1859+64A>G single nucleotide variant not provided [RCV001559519] Chr10:77039464 [GRCh38]
Chr10:78799222 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2015+161T>C single nucleotide variant not provided [RCV001590053] Chr10:77018852 [GRCh38]
Chr10:78778610 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1860-236A>C single nucleotide variant not provided [RCV001583221] Chr10:77028127 [GRCh38]
Chr10:78787885 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1353G>A (p.Glu451=) single nucleotide variant not provided [RCV000940902] Chr10:77086575 [GRCh38]
Chr10:78846333 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2595T>C (p.Arg865=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001391776] Chr10:76949256 [GRCh38]
Chr10:78709014 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3681A>G (p.Lys1227=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001464514] Chr10:76887296 [GRCh38]
Chr10:78647054 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3704G>A (p.Arg1235Gln) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000952351]|not provided [RCV001664569] Chr10:76887273 [GRCh38]
Chr10:78647031 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000908575]|not provided [RCV001569973] Chr10:76915006 [GRCh38]
Chr10:78674764 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity
NM_001161352.2(KCNMA1):c.2748C>T (p.Asn916=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000977699] Chr10:76944927 [GRCh38]
Chr10:78704685 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3420G>A (p.Leu1140=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001469804] Chr10:76889492 [GRCh38]
Chr10:78649250 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2499T>C (p.Ala833=) single nucleotide variant not provided [RCV000907303] Chr10:76949352 [GRCh38]
Chr10:78709110 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2811G>A (p.Ser937=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000937175] Chr10:76944864 [GRCh38]
Chr10:78704622 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000945842]|not provided [RCV003413748] Chr10:76891600 [GRCh38]
Chr10:78651358 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001161352.2(KCNMA1):c.1086C>T (p.Thr362=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000981222] Chr10:77110218 [GRCh38]
Chr10:78869976 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3021C>T (p.Asn1007=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000951828] Chr10:76910092 [GRCh38]
Chr10:78669850 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3087G>A (p.Thr1029=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001494376] Chr10:76910026 [GRCh38]
Chr10:78669784 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3337T>C (p.Leu1113=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000910857] Chr10:76891530 [GRCh38]
Chr10:78651288 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3147+6T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001218800]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002265961]|not provided [RCV001586063] Chr10:76909960 [GRCh38]
Chr10:78669718 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.378+7C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001239281] Chr10:77637258 [GRCh38]
Chr10:79397016 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.168_179del (p.Ser57_Ser60del) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001244713] Chr10:77637464..77637475 [GRCh38]
Chr10:79397222..79397233 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*862A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107071] Chr10:76886404 [GRCh38]
Chr10:78646162 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.37G>A (p.Gly13Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107254] Chr10:77637606 [GRCh38]
Chr10:79397364 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1964A>T (p.Gln655Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001219837] Chr10:77019064 [GRCh38]
Chr10:78778822 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3641A>G (p.Asn1214Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001245241]|Inborn genetic diseases [RCV003263890] Chr10:76887336 [GRCh38]
Chr10:78647094 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1491C>G (p.Asp497Glu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001245285] Chr10:77084669 [GRCh38]
Chr10:78844427 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3319G>A (p.Asp1107Asn) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001209004]|not provided [RCV003326552] Chr10:76891548 [GRCh38]
Chr10:78651306 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.422C>T (p.Thr141Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001043467]|not provided [RCV001759751] Chr10:77403980 [GRCh38]
Chr10:79163738 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*1131C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104313] Chr10:76886135 [GRCh38]
Chr10:78645893 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.215C>G (p.Pro72Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001217379] Chr10:77637428 [GRCh38]
Chr10:79397186 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1132G>A (p.Ala378Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001210092] Chr10:77108572 [GRCh38]
Chr10:78868330 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.27_56del (p.Gly13_Ser22del) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001228028] Chr10:77637587..77637616 [GRCh38]
Chr10:79397345..79397374 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.363C>T (p.Cys121=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000889253] Chr10:77637280 [GRCh38]
Chr10:79397038 [GRCh37]
Chr10:10q22.3
likely benign
I663V variation Liang-Wang syndrome [RCV000991271] Chr10:10q22.3 pathogenic
NM_001161352.2(KCNMA1):c.18C>T (p.Gly6=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001428315] Chr10:77637625 [GRCh38]
Chr10:79397383 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3363T>C (p.Asp1121=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001431910] Chr10:76889549 [GRCh38]
Chr10:78649307 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1509C>T (p.Ala503=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001485218] Chr10:77084651 [GRCh38]
Chr10:78844409 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.540+1G>A single nucleotide variant not provided [RCV001569791] Chr10:77403861 [GRCh38]
Chr10:79163619 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001161352.2(KCNMA1):c.2266+206G>A single nucleotide variant not provided [RCV001660843] Chr10:77001201 [GRCh38]
Chr10:78760959 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1989C>T (p.Ile663=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003106236]|not provided [RCV001577460] Chr10:77019039 [GRCh38]
Chr10:78778797 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2266+213G>A single nucleotide variant not provided [RCV001562624] Chr10:77001194 [GRCh38]
Chr10:78760952 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.378+302G>A single nucleotide variant not provided [RCV001677544] Chr10:77636963 [GRCh38]
Chr10:79396721 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.2714C>T (p.Thr905Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003106087]|not provided [RCV000994462] Chr10:76944961 [GRCh38]
Chr10:78704719 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3147+277G>A single nucleotide variant not provided [RCV001558719] Chr10:76909689 [GRCh38]
Chr10:78669447 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1440+2del deletion not provided [RCV003233359] Chr10:77086486 [GRCh38]
Chr10:78846244 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.809-28T>G single nucleotide variant not provided [RCV001552933] Chr10:77121076 [GRCh38]
Chr10:78880834 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.697-100A>G single nucleotide variant not provided [RCV001568594] Chr10:77183632 [GRCh38]
Chr10:78943390 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2485-79C>T single nucleotide variant not provided [RCV001636111] Chr10:76949445 [GRCh38]
Chr10:78709203 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.961-115G>A single nucleotide variant not provided [RCV001594215] Chr10:77110458 [GRCh38]
Chr10:78870216 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3653G>T (p.Arg1218Leu) single nucleotide variant not provided [RCV002467294] Chr10:76887324 [GRCh38]
Chr10:78647082 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2414A>G (p.Asn805Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001044969]|KCNMA1-related condition [RCV003393802] Chr10:76953871 [GRCh38]
Chr10:78713629 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.36CGG[10] (p.Gly18_Gly20dup) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001043326]|not provided [RCV001171770] Chr10:77637586..77637587 [GRCh38]
Chr10:79397344..79397345 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.2484+249C>G single nucleotide variant not provided [RCV001654045] Chr10:76953552 [GRCh38]
Chr10:78713310 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1223+59dup duplication not provided [RCV001591990] Chr10:77108407..77108408 [GRCh38]
Chr10:78868165..78868166 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.884+195T>C single nucleotide variant not provided [RCV001620881] Chr10:77120778 [GRCh38]
Chr10:78880536 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1593+78AC[18] microsatellite not provided [RCV001716459] Chr10:77079369..77079370 [GRCh38]
Chr10:78839127..78839128 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.2527G>A (p.Val843Met) single nucleotide variant not provided [RCV001723289] Chr10:76949324 [GRCh38]
Chr10:78709082 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3514A>T (p.Ile1172Phe) single nucleotide variant not provided [RCV001593504] Chr10:76887463 [GRCh38]
Chr10:78647221 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2484+291C>T single nucleotide variant not provided [RCV001656245] Chr10:76953510 [GRCh38]
Chr10:78713268 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.603-123del deletion not provided [RCV001595934] Chr10:77185039 [GRCh38]
Chr10:78944797 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.961-68G>A single nucleotide variant not provided [RCV001590063] Chr10:77110411 [GRCh38]
Chr10:78870169 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1594-60A>G single nucleotide variant not provided [RCV001678517] Chr10:77073312 [GRCh38]
Chr10:78833070 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.2484+2001T>C single nucleotide variant not provided [RCV001677790] Chr10:76951800 [GRCh38]
Chr10:78711558 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.3016+1137A>C single nucleotide variant not provided [RCV001682243] Chr10:76913799 [GRCh38]
Chr10:78673557 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1224-165T>A single nucleotide variant not provided [RCV001694666] Chr10:77090675 [GRCh38]
Chr10:78850433 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1224-170G>A single nucleotide variant not provided [RCV001637576] Chr10:77090680 [GRCh38]
Chr10:78850438 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1593+78AC[21] microsatellite not provided [RCV001635791] Chr10:77079369..77079370 [GRCh38]
Chr10:78839127..78839128 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.378+560G>A single nucleotide variant not provided [RCV001594797] Chr10:77636705 [GRCh38]
Chr10:79396463 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1334+146G>A single nucleotide variant not provided [RCV001621171] Chr10:77090254 [GRCh38]
Chr10:78850012 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.3343-72G>A single nucleotide variant not provided [RCV001598966] Chr10:76889641 [GRCh38]
Chr10:78649399 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.602+59T>C single nucleotide variant not provided [RCV001678490] Chr10:77251136 [GRCh38]
Chr10:79010894 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.2016-208C>A single nucleotide variant not provided [RCV001674323] Chr10:77012251 [GRCh38]
Chr10:78772009 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1593+11G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001102565] Chr10:77079470 [GRCh38]
Chr10:78839228 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*1315C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104011] Chr10:76885951 [GRCh38]
Chr10:78645709 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.*129T>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107739] Chr10:76887137 [GRCh38]
Chr10:78646895 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2276A>C (p.Glu759Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107810] Chr10:76970058 [GRCh38]
Chr10:78729816 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3138C>G (p.Leu1046=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104404] Chr10:76909975 [GRCh38]
Chr10:78669733 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.-104G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107900] Chr10:77637746 [GRCh38]
Chr10:79397504 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*1633C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104008] Chr10:76885633 [GRCh38]
Chr10:78645391 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2408A>T (p.Asp803Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001196768] Chr10:76953877 [GRCh38]
Chr10:78713635 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*1529C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104009] Chr10:76885737 [GRCh38]
Chr10:78645495 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*1507G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104010] Chr10:76885759 [GRCh38]
Chr10:78645517 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*21G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104092] Chr10:76887245 [GRCh38]
Chr10:78647003 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107149]|not provided [RCV002511041] Chr10:76949340 [GRCh38]
Chr10:78709098 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.*115C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107740] Chr10:76887151 [GRCh38]
Chr10:78646909 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1860-4G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107811] Chr10:77027895 [GRCh38]
Chr10:78787653 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.-131C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107901] Chr10:77637773 [GRCh38]
Chr10:79397531 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3462-46T>C single nucleotide variant not provided [RCV001567491] Chr10:76887561 [GRCh38]
Chr10:78647319 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.741C>A (p.Asn247Lys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001034811] Chr10:77183488 [GRCh38]
Chr10:78943246 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.961-13C>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002070380]|not provided [RCV001530871] Chr10:77110356 [GRCh38]
Chr10:78870114 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001161352.2(KCNMA1):c.960+48C>A single nucleotide variant not provided [RCV001613845] Chr10:77112319 [GRCh38]
Chr10:78872077 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1131+41G>T single nucleotide variant not provided [RCV001587205] Chr10:77110132 [GRCh38]
Chr10:78869890 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2015+38G>A single nucleotide variant not provided [RCV001583156] Chr10:77018975 [GRCh38]
Chr10:78778733 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1441-11C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002070411]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002495934]|not provided [RCV001584667] Chr10:77084730 [GRCh38]
Chr10:78844488 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1335-254A>G single nucleotide variant not provided [RCV001691362] Chr10:77086847 [GRCh38]
Chr10:78846605 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.2267-264_2267-263del deletion not provided [RCV001724439] Chr10:76970330..76970331 [GRCh38]
Chr10:78730088..78730089 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1593+78AC[19] microsatellite not provided [RCV001681966] Chr10:77079369..77079370 [GRCh38]
Chr10:78839127..78839128 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.379-86C>G single nucleotide variant not provided [RCV001644242] Chr10:77404109 [GRCh38]
Chr10:79163867 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1928+2567_1928+2582del deletion not provided [RCV001681296] Chr10:77025241..77025256 [GRCh38]
Chr10:78784999..78785014 [GRCh37]
Chr10:10q22.3
benign
NC_000010.11:g.77637916G>A single nucleotide variant not provided [RCV001685053] Chr10:77637916 [GRCh38]
Chr10:79397674 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.2503A>G (p.Met835Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001070243] Chr10:76949348 [GRCh38]
Chr10:78709106 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1593+78AC[20] microsatellite not provided [RCV001540751] Chr10:77079369..77079370 [GRCh38]
Chr10:78839127..78839128 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.122C>T (p.Ser41Phe) single nucleotide variant Cerebellar atrophy, developmental delay, and seizures [RCV001291789]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001060049] Chr10:77637521 [GRCh38]
Chr10:79397279 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001052678] Chr10:76887478 [GRCh38]
Chr10:78647236 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2078G>A (p.Cys693Tyr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001217753] Chr10:77011981 [GRCh38]
Chr10:78771739 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1936A>G (p.Ile646Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001041970] Chr10:77019092 [GRCh38]
Chr10:78778850 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.144TTC[2] (p.Ser59_Ser60del) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001060413] Chr10:77637488..77637493 [GRCh38]
Chr10:79397246..79397251 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.3697G>A (p.Glu1233Lys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001198946] Chr10:76887280 [GRCh38]
Chr10:78647038 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.3578C>T (p.Ser1193Phe) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001213102] Chr10:76887399 [GRCh38]
Chr10:78647157 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2710G>A (p.Gly904Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001202477] Chr10:76944965 [GRCh38]
Chr10:78704723 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.813G>C (p.Leu271Phe) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001216510] Chr10:77121044 [GRCh38]
Chr10:78880802 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.91G>T (p.Ala31Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001216659] Chr10:77637552 [GRCh38]
Chr10:79397310 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.36_65del (p.Gly13_Ser22del) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001212956] Chr10:77637578..77637607 [GRCh38]
Chr10:79397336..79397365 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3147+15T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104403] Chr10:76909951 [GRCh38]
Chr10:78669709 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.3129G>A (p.Leu1043=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001040231] Chr10:76909984 [GRCh38]
Chr10:78669742 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.602+12A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104491] Chr10:77251183 [GRCh38]
Chr10:79010941 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001161352.2(KCNMA1):c.3281A>G (p.Asn1094Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001234501]|not provided [RCV001760243] Chr10:76891586 [GRCh38]
Chr10:78651344 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2956G>C (p.Gly986Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001059546] Chr10:76914996 [GRCh38]
Chr10:78674754 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3674G>A (p.Arg1225Gln) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001247172]|not provided [RCV003130230] Chr10:76887303 [GRCh38]
Chr10:78647061 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*2326C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001106978] Chr10:76884940 [GRCh38]
Chr10:78644698 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*2138C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107633] Chr10:76885128 [GRCh38]
Chr10:78644886 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.*69A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107741] Chr10:76887197 [GRCh38]
Chr10:78646955 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_002247.3(KCNMA1):c.-175C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107902] Chr10:77637817 [GRCh38]
Chr10:79397575 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.*50C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104091] Chr10:76887216 [GRCh38]
Chr10:78646974 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2345C>T (p.Ser782Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001215186] Chr10:76969989 [GRCh38]
Chr10:78729747 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2588C>T (p.Pro863Leu) single nucleotide variant Intellectual disability [RCV001252026]|KCNMA1-related disorders [RCV001420997]|Liang-Wang syndrome [RCV001775159]|not provided [RCV001751518] Chr10:76949263 [GRCh38]
Chr10:78709021 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic|likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.1831G>C (p.Val611Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001253327] Chr10:77039556 [GRCh38]
Chr10:78799314 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.152C>T (p.Ser51Phe) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001253510] Chr10:77637491 [GRCh38]
Chr10:79397249 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1127G>A (p.Gly376Glu) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 16 [RCV001262815] Chr10:77110177 [GRCh38]
Chr10:78869935 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3619C>A (p.His1207Asn) single nucleotide variant Global developmental delay [RCV001787702] Chr10:76887358 [GRCh38]
Chr10:78647116 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q22.3(chr10:79356214-79614826)x3 copy number gain not provided [RCV001260106] Chr10:79356214..79614826 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.59G>A (p.Gly20Asp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001295223]|not provided [RCV003456487] Chr10:77637584 [GRCh38]
Chr10:79397342 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2092+3781T>C single nucleotide variant Seizure [RCV001255085] Chr10:77008186 [GRCh38]
Chr10:78767944 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2993A>G (p.Asn998Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001257264] Chr10:76914959 [GRCh38]
Chr10:78674717 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2122C>T (p.Arg708Trp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001291678] Chr10:77001551 [GRCh38]
Chr10:78761309 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1792T>G (p.Ser598Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001304112] Chr10:77039595 [GRCh38]
Chr10:78799353 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1860-151C>T single nucleotide variant not provided [RCV001538209] Chr10:77028042 [GRCh38]
Chr10:78787800 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3343-275A>G single nucleotide variant not provided [RCV001536257] Chr10:76889844 [GRCh38]
Chr10:78649602 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1699G>A (p.Gly567Ser) single nucleotide variant Cerebellar atrophy, developmental delay, and seizures [RCV001260493] Chr10:77073147 [GRCh38]
Chr10:78832905 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001161352.2(KCNMA1):c.2806A>G (p.Thr936Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001294265] Chr10:76944869 [GRCh38]
Chr10:78704627 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.808+164T>C single nucleotide variant not provided [RCV001537008] Chr10:77183257 [GRCh38]
Chr10:78943015 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.3022G>A (p.Asp1008Asn) single nucleotide variant Intellectual disability [RCV001257729]|Liang-Wang syndrome [RCV002269354] Chr10:76910091 [GRCh38]
Chr10:78669849 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
GRCh37/hg19 10q22.3(chr10:79037596-79123321)x1 copy number loss not provided [RCV001258448] Chr10:79037596..79123321 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2484+1682T>C single nucleotide variant not provided [RCV001311713] Chr10:76952119 [GRCh38]
Chr10:78711877 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2021T>A (p.Phe674Tyr) single nucleotide variant not provided [RCV001311714] Chr10:77012038 [GRCh38]
Chr10:78771796 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1336A>G (p.Ile446Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001324879] Chr10:77086592 [GRCh38]
Chr10:78846350 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.762G>A (p.Thr254=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001341993] Chr10:77183467 [GRCh38]
Chr10:78943225 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.499G>C (p.Gly167Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001350429] Chr10:77403903 [GRCh38]
Chr10:79163661 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.4G>A (p.Ala2Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001301840] Chr10:77637639 [GRCh38]
Chr10:79397397 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3166A>G (p.Ile1056Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001325465] Chr10:76891701 [GRCh38]
Chr10:78651459 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3547G>A (p.Gly1183Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001308750]|not provided [RCV001546310] Chr10:76887430 [GRCh38]
Chr10:78647188 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.3598A>G (p.Ser1200Gly) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001348755]|not provided [RCV001751681] Chr10:76887379 [GRCh38]
Chr10:78647137 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.559C>G (p.Leu187Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001321392] Chr10:77251238 [GRCh38]
Chr10:79010996 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.365G>C (p.Gly122Ala) single nucleotide variant Cerebellar atrophy, developmental delay, and seizures [RCV003339585]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001303799]|Inborn genetic diseases [RCV003166717]|not provided [RCV001732119] Chr10:77637278 [GRCh38]
Chr10:79397036 [GRCh37]
Chr10:10q22.3
uncertain significance
NC_000010.10:g.(?_79163610)_(79397400_?)dup duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001300096] Chr10:79163610..79397400 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3149C>T (p.Thr1050Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001304062] Chr10:76891718 [GRCh38]
Chr10:78651476 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2508C>T (p.Thr836=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001434101] Chr10:76949343 [GRCh38]
Chr10:78709101 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1749+5C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001352449] Chr10:77073092 [GRCh38]
Chr10:78832850 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.747A>G (p.Val249=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001422547] Chr10:77183482 [GRCh38]
Chr10:78943240 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2404A>G (p.Met802Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001372723]|Inborn genetic diseases [RCV002550162] Chr10:76953881 [GRCh38]
Chr10:78713639 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3357T>C (p.Tyr1119=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001396979] Chr10:76889555 [GRCh38]
Chr10:78649313 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2067A>C (p.Arg689Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001368857]|not provided [RCV003169888] Chr10:77011992 [GRCh38]
Chr10:78771750 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.349G>A (p.Val117Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001360178] Chr10:77637294 [GRCh38]
Chr10:79397052 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1171A>G (p.Ile391Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001359269] Chr10:77108533 [GRCh38]
Chr10:78868291 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.92C>T (p.Ala31Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001343465] Chr10:77637551 [GRCh38]
Chr10:79397309 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.361T>C (p.Cys121Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001341922] Chr10:77637282 [GRCh38]
Chr10:79397040 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.368G>A (p.Gly123Asp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001323888]|not provided [RCV003227025] Chr10:77637275 [GRCh38]
Chr10:79397033 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.657G>A (p.Met219Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001346617] Chr10:77184862 [GRCh38]
Chr10:78944620 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.930G>A (p.Thr310=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001460652]|not provided [RCV001289076] Chr10:77112397 [GRCh38]
Chr10:78872155 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.36CGG[11] (p.Gly17_Gly20dup) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001323059] Chr10:77637586..77637587 [GRCh38]
Chr10:79397344..79397345 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3440C>T (p.Thr1147Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001373881]|not provided [RCV001773738] Chr10:76889472 [GRCh38]
Chr10:78649230 [GRCh37]
Chr10:10q22.3
uncertain significance
NC_000010.10:g.(?_79396125)_(79397420_?)dup duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001372242] Chr10:79396125..79397420 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.90C>A (p.His30Gln) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001318962] Chr10:77637553 [GRCh38]
Chr10:79397311 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.283A>G (p.Met95Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001322342] Chr10:77637360 [GRCh38]
Chr10:79397118 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.30_56dup (p.Ser11_Gly19dup) duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001361889] Chr10:77637586..77637587 [GRCh38]
Chr10:79397344..79397345 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.34_39del (p.Ser12_Gly13del) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001323633] Chr10:77637604..77637609 [GRCh38]
Chr10:79397362..79397367 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.112G>A (p.Ala38Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001363714] Chr10:77637531 [GRCh38]
Chr10:79397289 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3145G>A (p.Ala1049Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001348175] Chr10:76909968 [GRCh38]
Chr10:78669726 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3661T>A (p.Ser1221Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001314365] Chr10:76887316 [GRCh38]
Chr10:78647074 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3035A>G (p.Gln1012Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001319664] Chr10:76910078 [GRCh38]
Chr10:78669836 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.55G>A (p.Gly19Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001363966] Chr10:77637588 [GRCh38]
Chr10:79397346 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2089C>T (p.Arg697Trp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001306285]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002493605] Chr10:77011970 [GRCh38]
Chr10:78771728 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3690C>A (p.Tyr1230Ter) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001308479] Chr10:76887287 [GRCh38]
Chr10:78647045 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.378+470A>G single nucleotide variant not provided [RCV001311715] Chr10:77636795 [GRCh38]
Chr10:79396553 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1534A>G (p.Ile512Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001297393] Chr10:77079540 [GRCh38]
Chr10:78839298 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1493C>T (p.Pro498Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001340037] Chr10:77084667 [GRCh38]
Chr10:78844425 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.14_15insAGG (p.Gly10dup) insertion Cerebellar atrophy, developmental delay, and seizures [RCV001328937] Chr10:77637628..77637629 [GRCh38]
Chr10:79397386..79397387 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.385C>G (p.Gln129Glu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001296424] Chr10:77404017 [GRCh38]
Chr10:79163775 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2966G>A (p.Arg989His) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001338185]|Inborn genetic diseases [RCV002546839] Chr10:76914986 [GRCh38]
Chr10:78674744 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3611C>T (p.Ser1204Phe) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001316144] Chr10:76887366 [GRCh38]
Chr10:78647124 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.13GGC[4] (p.Gly9_Gly10del) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001369713] Chr10:77637613..77637618 [GRCh38]
Chr10:79397371..79397376 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1807A>G (p.Thr603Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001300650] Chr10:77039580 [GRCh38]
Chr10:78799338 [GRCh37]
Chr10:10q22.3
likely pathogenic|uncertain significance
NM_001161352.2(KCNMA1):c.3485A>G (p.Tyr1162Cys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002015033] Chr10:76887492 [GRCh38]
Chr10:78647250 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.144TTC[6] (p.Ser59_Ser60dup) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001312774] Chr10:77637487..77637488 [GRCh38]
Chr10:79397245..79397246 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.514G>A (p.Ala172Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001352140]|not provided [RCV001664844] Chr10:77403888 [GRCh38]
Chr10:79163646 [GRCh37]
Chr10:10q22.3
pathogenic|uncertain significance
NM_001161352.2(KCNMA1):c.2376A>G (p.Leu792=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001498452] Chr10:76953909 [GRCh38]
Chr10:78713667 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1334+8C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001457364] Chr10:77090392 [GRCh38]
Chr10:78850150 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3210G>A (p.Pro1070=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001487436] Chr10:76891657 [GRCh38]
Chr10:78651415 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.642A>G (p.Thr214=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001468503] Chr10:77184877 [GRCh38]
Chr10:78944635 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2277G>A (p.Glu759=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001506068] Chr10:76970057 [GRCh38]
Chr10:78729815 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1431A>G (p.Ala477=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001451229] Chr10:77086497 [GRCh38]
Chr10:78846255 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2589G>A (p.Pro863=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001405045] Chr10:76949262 [GRCh38]
Chr10:78709020 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1666T>C (p.Leu556=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001475585] Chr10:77073180 [GRCh38]
Chr10:78832938 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2916A>G (p.Pro972=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001491539] Chr10:76915036 [GRCh38]
Chr10:78674794 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2508C>A (p.Thr836=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001397794] Chr10:76949343 [GRCh38]
Chr10:78709101 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3016+9C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001405995] Chr10:76914927 [GRCh38]
Chr10:78674685 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1614G>C (p.Pro538=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001484382] Chr10:77073232 [GRCh38]
Chr10:78832990 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2015+37C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001521838]|not provided [RCV001655783] Chr10:77018976 [GRCh38]
Chr10:78778734 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.504G>A (p.Val168=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001485884] Chr10:77403898 [GRCh38]
Chr10:79163656 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.399T>C (p.Asn133=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001460729] Chr10:77404003 [GRCh38]
Chr10:79163761 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1635T>C (p.Gly545=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001438259] Chr10:77073211 [GRCh38]
Chr10:78832969 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2092+9T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001418395] Chr10:77011958 [GRCh38]
Chr10:78771716 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2313G>A (p.Arg771=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001411992] Chr10:76970021 [GRCh38]
Chr10:78729779 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1470T>C (p.Leu490=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001440854] Chr10:77084690 [GRCh38]
Chr10:78844448 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.300G>C (p.Gly100=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001448912] Chr10:77637343 [GRCh38]
Chr10:79397101 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.302dup (p.Leu102fs) duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001385175] Chr10:77637340..77637341 [GRCh38]
Chr10:79397098..79397099 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001161352.2(KCNMA1):c.1788A>G (p.Gly596=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001430671] Chr10:77039599 [GRCh38]
Chr10:78799357 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1206T>C (p.Ser402=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001399331] Chr10:77108498 [GRCh38]
Chr10:78868256 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.70A>C (p.Arg24=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001418034] Chr10:77637573 [GRCh38]
Chr10:79397331 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1928+10C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001407778] Chr10:77027813 [GRCh38]
Chr10:78787571 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2496A>G (p.Glu832=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001447013] Chr10:76949355 [GRCh38]
Chr10:78709113 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1860-7A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001410235] Chr10:77027898 [GRCh38]
Chr10:78787656 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1197C>T (p.Gly399=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001410369] Chr10:77108507 [GRCh38]
Chr10:78868265 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.234G>A (p.Pro78=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001449546] Chr10:77637409 [GRCh38]
Chr10:79397167 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.603-9_603-6del deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001408193] Chr10:77184922..77184925 [GRCh38]
Chr10:78944680..78944683 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3324G>A (p.Gly1108=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001431592] Chr10:76891543 [GRCh38]
Chr10:78651301 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3504G>A (p.Pro1168=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001405991] Chr10:76887473 [GRCh38]
Chr10:78647231 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3621C>T (p.His1207=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001408540] Chr10:76887356 [GRCh38]
Chr10:78647114 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.72A>G (p.Arg24=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001419451] Chr10:77637571 [GRCh38]
Chr10:79397329 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2427C>T (p.Tyr809=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001448334] Chr10:76953858 [GRCh38]
Chr10:78713616 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2877C>T (p.Ile959=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001438529] Chr10:76944798 [GRCh38]
Chr10:78704556 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3148-6C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001454224] Chr10:76891725 [GRCh38]
Chr10:78651483 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.808+10C>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001457127] Chr10:77183411 [GRCh38]
Chr10:78943169 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1860-225A>G single nucleotide variant not provided [RCV001681550] Chr10:77028116 [GRCh38]
Chr10:78787874 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.379-103A>G single nucleotide variant not provided [RCV001670928] Chr10:77404126 [GRCh38]
Chr10:79163884 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1928+2565_1928+2582del deletion not provided [RCV001694757] Chr10:77025241..77025258 [GRCh38]
Chr10:78784999..78785016 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1860-215T>C single nucleotide variant not provided [RCV001588629] Chr10:77028106 [GRCh38]
Chr10:78787864 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2955C>T (p.His985=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001454704] Chr10:76914997 [GRCh38]
Chr10:78674755 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3306G>A (p.Gln1102=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001458440] Chr10:76891561 [GRCh38]
Chr10:78651319 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1223+71_1223+73del deletion not provided [RCV001671331] Chr10:77108408..77108410 [GRCh38]
Chr10:78868166..78868168 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.3016+339T>C single nucleotide variant not provided [RCV001587063] Chr10:76914597 [GRCh38]
Chr10:78674355 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2360+63T>C single nucleotide variant not provided [RCV001716033] Chr10:76969911 [GRCh38]
Chr10:78729669 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1928+2575_1928+2582del deletion not provided [RCV001684656] Chr10:77025241..77025248 [GRCh38]
Chr10:78784999..78785006 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1593+78AC[16] microsatellite not provided [RCV001713611] Chr10:77079370..77079371 [GRCh38]
Chr10:78839128..78839129 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.696+281T>C single nucleotide variant not provided [RCV001649984] Chr10:77184542 [GRCh38]
Chr10:78944300 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.2267-263del deletion not provided [RCV001611649] Chr10:76970330 [GRCh38]
Chr10:78730088 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.2361-215G>C single nucleotide variant not provided [RCV001710601] Chr10:76954139 [GRCh38]
Chr10:78713897 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.894C>T (p.Ile298=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001452705] Chr10:77112433 [GRCh38]
Chr10:78872191 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2360+97C>T single nucleotide variant not provided [RCV001591504] Chr10:76969877 [GRCh38]
Chr10:78729635 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1859+9C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001460238] Chr10:77039519 [GRCh38]
Chr10:78799277 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2316T>C (p.Asn772=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001463333]|not provided [RCV001813825] Chr10:76970018 [GRCh38]
Chr10:78729776 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3016+83T>C single nucleotide variant not provided [RCV001689506] Chr10:76914853 [GRCh38]
Chr10:78674611 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1928+2563_1928+2582del deletion not provided [RCV001618802] Chr10:77025241..77025260 [GRCh38]
Chr10:78784999..78785018 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1223+35C>T single nucleotide variant not provided [RCV001687845] Chr10:77108446 [GRCh38]
Chr10:78868204 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.3471C>T (p.Ile1157=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001480883]|not provided [RCV001664896] Chr10:76887506 [GRCh38]
Chr10:78647264 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.1223+72_1223+73del deletion not provided [RCV001667984] Chr10:77108408..77108409 [GRCh38]
Chr10:78868166..78868167 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.288G>T (p.Val96=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001453573] Chr10:77637355 [GRCh38]
Chr10:79397113 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.809-137T>C single nucleotide variant not provided [RCV001650210] Chr10:77121185 [GRCh38]
Chr10:78880943 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.717A>G (p.Lys239=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001416910] Chr10:77183512 [GRCh38]
Chr10:78943270 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3444C>T (p.Pro1148=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001485850] Chr10:76889468 [GRCh38]
Chr10:78649226 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.861G>A (p.Gln287=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001467248] Chr10:77120996 [GRCh38]
Chr10:78880754 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2778G>A (p.Leu926=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001504753] Chr10:76944897 [GRCh38]
Chr10:78704655 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.567C>T (p.Ile189=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001455582] Chr10:77251230 [GRCh38]
Chr10:79010988 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1132-5C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001468722] Chr10:77108577 [GRCh38]
Chr10:78868335 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.808+8A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001465062] Chr10:77183413 [GRCh38]
Chr10:78943171 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.12T>C (p.Gly4=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001476265] Chr10:77637631 [GRCh38]
Chr10:79397389 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2340C>T (p.Asn780=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001480333]|not provided [RCV001796516] Chr10:76969994 [GRCh38]
Chr10:78729752 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1485C>T (p.Cys495=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001453340] Chr10:77084675 [GRCh38]
Chr10:78844433 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.462C>T (p.Ala154=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001392918]|not provided [RCV002276243] Chr10:77403940 [GRCh38]
Chr10:79163698 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.513C>T (p.Ser171=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001423342]|not provided [RCV001548689] Chr10:77403889 [GRCh38]
Chr10:79163647 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.207C>G (p.Leu69=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001418139] Chr10:77637436 [GRCh38]
Chr10:79397194 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1859+9C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001401889] Chr10:77039519 [GRCh38]
Chr10:78799277 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2664G>A (p.Arg888=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001504348] Chr10:76949187 [GRCh38]
Chr10:78708945 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2057A>T (p.Asp686Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002539859]|not provided [RCV001756279] Chr10:77012002 [GRCh38]
Chr10:78771760 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1437del (p.Lys480fs) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002250063] Chr10:77086491 [GRCh38]
Chr10:78846249 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001161352.2(KCNMA1):c.237C>G (p.Cys79Trp) single nucleotide variant not provided [RCV001755015] Chr10:77637406 [GRCh38]
Chr10:79397164 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.378+792_378+793dup duplication not provided [RCV001763695] Chr10:77636471..77636472 [GRCh38]
Chr10:79396229..79396230 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.527C>G (p.Thr176Ser) single nucleotide variant not provided [RCV003238522] Chr10:77403875 [GRCh38]
Chr10:79163633 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1957A>G (p.Lys653Glu) single nucleotide variant not provided [RCV001770630] Chr10:77019071 [GRCh38]
Chr10:78778829 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3415C>T (p.Arg1139Trp) single nucleotide variant not provided [RCV001773384] Chr10:76889497 [GRCh38]
Chr10:78649255 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3637G>A (p.Ala1213Thr) single nucleotide variant not provided [RCV001774651] Chr10:76887340 [GRCh38]
Chr10:78647098 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1870G>A (p.Val624Met) single nucleotide variant not provided [RCV001752287] Chr10:77027881 [GRCh38]
Chr10:78787639 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2411C>T (p.Ser804Phe) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001882848]|not provided [RCV001765017] Chr10:76953874 [GRCh38]
Chr10:78713632 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.670T>C (p.Phe224Leu) single nucleotide variant not provided [RCV001774471] Chr10:77184849 [GRCh38]
Chr10:78944607 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.95A>T (p.Asn32Ile) single nucleotide variant not provided [RCV001754074] Chr10:77637548 [GRCh38]
Chr10:79397306 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3131A>G (p.Asp1044Gly) single nucleotide variant not provided [RCV001758337] Chr10:76909982 [GRCh38]
Chr10:78669740 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2572C>T (p.Arg858Trp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002539141]|Seizure [RCV002271992]|not provided [RCV001758695] Chr10:76949279 [GRCh38]
Chr10:78709037 [GRCh37]
Chr10:10q22.3
likely pathogenic|uncertain significance
NM_001161352.2(KCNMA1):c.710A>G (p.Asn237Ser) single nucleotide variant not provided [RCV001763685] Chr10:77183519 [GRCh38]
Chr10:78943277 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2267-4486C>T single nucleotide variant not provided [RCV003416412]|not specified [RCV001733587] Chr10:76974553 [GRCh38]
Chr10:78734311 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.2789A>C (p.Gln930Pro) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001885219]|not provided [RCV001794843] Chr10:76944886 [GRCh38]
Chr10:78704644 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.585C>T (p.Tyr195=) single nucleotide variant not provided [RCV001760845] Chr10:77251212 [GRCh38]
Chr10:79010970 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.175T>C (p.Ser59Pro) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001882825]|not provided [RCV001757836] Chr10:77637468 [GRCh38]
Chr10:79397226 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2363_2369del (p.His788fs) deletion not specified [RCV001815141] Chr10:76953916..76953922 [GRCh38]
Chr10:78713674..78713680 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.378+398C>A single nucleotide variant not provided [RCV001815708] Chr10:77636867 [GRCh38]
Chr10:79396625 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1642G>A (p.Ala548Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001863499]|not provided [RCV002267126] Chr10:77073204 [GRCh38]
Chr10:78832962 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1594-6C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001912094] Chr10:77073258 [GRCh38]
Chr10:78833016 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1849A>G (p.Thr617Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001970539] Chr10:77039538 [GRCh38]
Chr10:78799296 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.378+5C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001891322] Chr10:77637260 [GRCh38]
Chr10:79397018 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1334+3A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001986986] Chr10:77090397 [GRCh38]
Chr10:78850155 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2092+1G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002009234]|KCNMA1-related condition [RCV003418330] Chr10:77011966 [GRCh38]
Chr10:78771724 [GRCh37]
Chr10:10q22.3
likely pathogenic|uncertain significance
NM_001161352.2(KCNMA1):c.2701A>C (p.Ile901Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001912380] Chr10:76949150 [GRCh38]
Chr10:78708908 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3289C>T (p.Arg1097Cys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001928977] Chr10:76891578 [GRCh38]
Chr10:78651336 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1284del (p.Leu429fs) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001945420] Chr10:77090450 [GRCh38]
Chr10:78850208 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001161352.2(KCNMA1):c.34_39dup (p.Ser12_Gly13dup) duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002009272] Chr10:77637603..77637604 [GRCh38]
Chr10:79397361..79397362 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1442T>C (p.Ile481Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001864174]|Inborn genetic diseases [RCV002548698] Chr10:77084718 [GRCh38]
Chr10:78844476 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q22.3(chr10:79284201-79351792)x1 copy number loss not provided [RCV001827684] Chr10:79284201..79351792 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.374C>T (p.Thr125Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001863582] Chr10:77637269 [GRCh38]
Chr10:79397027 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.70_73del (p.Leu23_Arg24insTer) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001988029]|not provided [RCV003327547] Chr10:77637570..77637573 [GRCh38]
Chr10:79397328..79397331 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NC_000010.10:g.(?_78998319)_(79163801_?)dup duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002024432] Chr10:78998319..79163801 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001161352.2(KCNMA1):c.419G>T (p.Gly140Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001894664] Chr10:77403983 [GRCh38]
Chr10:79163741 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3703C>T (p.Arg1235Trp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001896344] Chr10:76887274 [GRCh38]
Chr10:78647032 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.884+6A>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001872155] Chr10:77120967 [GRCh38]
Chr10:78880725 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2387A>T (p.Asn796Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001911988] Chr10:76953898 [GRCh38]
Chr10:78713656 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1332C>T (p.His444=) single nucleotide variant Cerebellar atrophy, developmental delay, and seizures [RCV001839216] Chr10:77090402 [GRCh38]
Chr10:78850160 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.253C>A (p.Arg85Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001910312] Chr10:77637390 [GRCh38]
Chr10:79397148 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.700A>T (p.Ile234Phe) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001888935] Chr10:77183529 [GRCh38]
Chr10:78943287 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1334+1G>T single nucleotide variant Liang-Wang syndrome [RCV002052154] Chr10:77090399 [GRCh38]
Chr10:78850157 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001161352.2(KCNMA1):c.3457A>C (p.Lys1153Gln) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001889899] Chr10:76889455 [GRCh38]
Chr10:78649213 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3266C>T (p.Pro1089Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002020975] Chr10:76891601 [GRCh38]
Chr10:78651359 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1990G>A (p.Ala664Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001890243] Chr10:77019038 [GRCh38]
Chr10:78778796 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3
pathogenic
NM_001161352.2(KCNMA1):c.1822A>G (p.Ser608Gly) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001890995]|not provided [RCV003134196] Chr10:77039565 [GRCh38]
Chr10:78799323 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.364G>A (p.Gly122Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002043934] Chr10:77637279 [GRCh38]
Chr10:79397037 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.732G>A (p.Leu244=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001967713] Chr10:77183497 [GRCh38]
Chr10:78943255 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.1229T>C (p.Ile410Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002023346] Chr10:77090505 [GRCh38]
Chr10:78850263 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.608T>C (p.Ile203Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002006084] Chr10:77184911 [GRCh38]
Chr10:78944669 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3117C>G (p.Ala1039=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001913117] Chr10:76909996 [GRCh38]
Chr10:78669754 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.2710-3A>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002024597] Chr10:76944968 [GRCh38]
Chr10:78704726 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.140C>T (p.Ser47Phe) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001912818] Chr10:77637503 [GRCh38]
Chr10:79397261 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.13GGC[3] (p.Gly8_Gly10del) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002040199] Chr10:77637613..77637621 [GRCh38]
Chr10:79397371..79397379 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.378+5538T>G single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 16 [RCV001837325] Chr10:77631727 [GRCh38]
Chr10:79391485 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2306A>C (p.Lys769Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002036986] Chr10:76970028 [GRCh38]
Chr10:78729786 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1850C>T (p.Thr617Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001887846]|not provided [RCV002077336] Chr10:77039537 [GRCh38]
Chr10:78799295 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.352T>G (p.Cys118Gly) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002031894] Chr10:77637291 [GRCh38]
Chr10:79397049 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.411G>C (p.Gln137His) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001925181] Chr10:77403991 [GRCh38]
Chr10:79163749 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.378+5C>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001942620] Chr10:77637260 [GRCh38]
Chr10:79397018 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3146C>T (p.Ala1049Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001993603] Chr10:76909967 [GRCh38]
Chr10:78669725 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.574C>A (p.Leu192Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001976650] Chr10:77251223 [GRCh38]
Chr10:79010981 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001161352.2(KCNMA1):c.3147+3G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002050883] Chr10:76909963 [GRCh38]
Chr10:78669721 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.36CGG[6] (p.Gly20del) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001880402] Chr10:77637587..77637589 [GRCh38]
Chr10:79397345..79397347 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.112G>C (p.Ala38Pro) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001935416] Chr10:77637531 [GRCh38]
Chr10:79397289 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.362_363delinsTT (p.Cys121Phe) indel Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001921451] Chr10:77637280..77637281 [GRCh38]
Chr10:79397038..79397039 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3148A>G (p.Thr1050Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001957276] Chr10:76891719 [GRCh38]
Chr10:78651477 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2481C>G (p.Ile827Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001995295] Chr10:76953804 [GRCh38]
Chr10:78713562 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1928G>T (p.Arg643Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001922087] Chr10:77027823 [GRCh38]
Chr10:78787581 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2783C>T (p.Ala928Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001933205] Chr10:76944892 [GRCh38]
Chr10:78704650 [GRCh37]
Chr10:10q22.3
uncertain significance
NC_000010.10:g.(?_78998319)_(79163801_?)del deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001956163] Chr10:78998319..79163801 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001161352.2(KCNMA1):c.1870G>T (p.Val624Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001916175] Chr10:77027881 [GRCh38]
Chr10:78787639 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.179C>T (p.Ser60Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001906338]|not specified [RCV002246584] Chr10:77637464 [GRCh38]
Chr10:79397222 [GRCh37]
Chr10:10q22.3
benign|uncertain significance
NM_001161352.2(KCNMA1):c.3118G>A (p.Val1040Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001940228] Chr10:76909995 [GRCh38]
Chr10:78669753 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1952A>T (p.His651Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001960347] Chr10:77019076 [GRCh38]
Chr10:78778834 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.447G>C (p.Glu149Asp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001959806] Chr10:77403955 [GRCh38]
Chr10:79163713 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.225G>A (p.Met75Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001918058] Chr10:77637418 [GRCh38]
Chr10:79397176 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2521del (p.His841fs) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001923418] Chr10:76949330 [GRCh38]
Chr10:78709088 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001161352.2(KCNMA1):c.1909T>G (p.Ser637Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001917005] Chr10:77027842 [GRCh38]
Chr10:78787600 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.441A>T (p.Glu147Asp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001995996] Chr10:77403961 [GRCh38]
Chr10:79163719 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.97C>T (p.His33Tyr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001905994] Chr10:77637546 [GRCh38]
Chr10:79397304 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2053A>G (p.Thr685Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002033371] Chr10:77012006 [GRCh38]
Chr10:78771764 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2873G>T (p.Ser958Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002048946] Chr10:76944802 [GRCh38]
Chr10:78704560 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.506T>C (p.Met169Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002030343] Chr10:77403896 [GRCh38]
Chr10:79163654 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.16_33dup (p.Gly6_Ser11dup) duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001916065] Chr10:77637609..77637610 [GRCh38]
Chr10:79397367..79397368 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1716T>A (p.Leu572=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001884862] Chr10:77073130 [GRCh38]
Chr10:78832888 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3644G>A (p.Arg1215Gln) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001981061] Chr10:76887333 [GRCh38]
Chr10:78647091 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.31_51dup (p.Ser11_Gly17dup) duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002030547] Chr10:77637591..77637592 [GRCh38]
Chr10:79397349..79397350 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1712T>C (p.Met571Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001979864] Chr10:77073134 [GRCh38]
Chr10:78832892 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.155C>T (p.Ser52Phe) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001906031] Chr10:77637488 [GRCh38]
Chr10:79397246 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1334+11C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001997657] Chr10:77090389 [GRCh38]
Chr10:78850147 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2400C>G (p.Asp800Glu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002016125] Chr10:76953885 [GRCh38]
Chr10:78713643 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.469G>A (p.Gly157Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001884033] Chr10:77403933 [GRCh38]
Chr10:79163691 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1967A>C (p.Glu656Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002019251]|Inborn genetic diseases [RCV002642018] Chr10:77019061 [GRCh38]
Chr10:78778819 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.117CTC[11] (p.Ser57_Ser60dup) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002034921] Chr10:77637505..77637506 [GRCh38]
Chr10:79397263..79397264 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3571C>T (p.His1191Tyr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002036232] Chr10:76887406 [GRCh38]
Chr10:78647164 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3493G>C (p.Glu1165Gln) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001907048] Chr10:76887484 [GRCh38]
Chr10:78647242 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2656C>T (p.Leu886Phe) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001919438] Chr10:76949195 [GRCh38]
Chr10:78708953 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1105A>T (p.Met369Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002014153] Chr10:77110199 [GRCh38]
Chr10:78869957 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1929-6G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002010524] Chr10:77019105 [GRCh38]
Chr10:78778863 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2423A>G (p.Lys808Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002029772] Chr10:76953862 [GRCh38]
Chr10:78713620 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.96C>G (p.Asn32Lys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001975693] Chr10:77637547 [GRCh38]
Chr10:79397305 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.336G>C (p.Lys112Asn) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001977743] Chr10:77637307 [GRCh38]
Chr10:79397065 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3316C>T (p.Leu1106Phe) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001881651] Chr10:76891551 [GRCh38]
Chr10:78651309 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.367G>A (p.Gly123Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001930677] Chr10:77637276 [GRCh38]
Chr10:79397034 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.602+12634G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002148389] Chr10:77238561 [GRCh38]
Chr10:78998319 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1441-15C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002110327] Chr10:77084734 [GRCh38]
Chr10:78844492 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3342+17G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002110021] Chr10:76891508 [GRCh38]
Chr10:78651266 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.348C>A (p.Thr116=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002073757] Chr10:77637295 [GRCh38]
Chr10:79397053 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.541-14_541-12del microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002209695] Chr10:77251268..77251270 [GRCh38]
Chr10:79011026..79011028 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3258C>T (p.Tyr1086=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002186623] Chr10:76891609 [GRCh38]
Chr10:78651367 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.697-6C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002209028] Chr10:77183538 [GRCh38]
Chr10:78943296 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2353C>T (p.Leu785=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002209089] Chr10:76969981 [GRCh38]
Chr10:78729739 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.375G>A (p.Thr125=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002187972] Chr10:77637268 [GRCh38]
Chr10:79397026 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2710-16T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002167137] Chr10:76944981 [GRCh38]
Chr10:78704739 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.39C>T (p.Gly13=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002110982] Chr10:77637604 [GRCh38]
Chr10:79397362 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.66T>A (p.Ser22Arg) single nucleotide variant not provided [RCV002211151] Chr10:77637577 [GRCh38]
Chr10:79397335 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.31_45del (p.Ser11_Gly15del) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003089115]|not provided [RCV002211152]|not specified [RCV003324005] Chr10:77637598..77637612 [GRCh38]
Chr10:79397356..79397370 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2662C>A (p.Arg888=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002188385] Chr10:76949189 [GRCh38]
Chr10:78708947 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2710-19del deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002129773] Chr10:76944984 [GRCh38]
Chr10:78704742 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.2015+18A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002111718] Chr10:77018995 [GRCh38]
Chr10:78778753 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1594-20dup duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002108645] Chr10:77073271..77073272 [GRCh38]
Chr10:78833029..78833030 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1928+16C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002112298] Chr10:77027807 [GRCh38]
Chr10:78787565 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.696+17T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002186114] Chr10:77184806 [GRCh38]
Chr10:78944564 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1132-10A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002185563] Chr10:77108582 [GRCh38]
Chr10:78868340 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3186C>G (p.Thr1062=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002090350] Chr10:76891681 [GRCh38]
Chr10:78651439 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1749+12T>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002108762] Chr10:77073085 [GRCh38]
Chr10:78832843 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2688C>T (p.Phe896=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002205830] Chr10:76949163 [GRCh38]
Chr10:78708921 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1928+11G>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002105855] Chr10:77027812 [GRCh38]
Chr10:78787570 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1523+14C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002086114] Chr10:77084623 [GRCh38]
Chr10:78844381 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.34del (p.Ser12fs) deletion not provided [RCV002224910] Chr10:77637609 [GRCh38]
Chr10:79397367 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2312G>A (p.Arg771Gln) single nucleotide variant Liang-Wang syndrome [RCV002243590] Chr10:76970022 [GRCh38]
Chr10:78729780 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1750-6C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002165953] Chr10:77039643 [GRCh38]
Chr10:78799401 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1523+9T>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002209863] Chr10:77084628 [GRCh38]
Chr10:78844386 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.153T>C (p.Ser51=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002091549] Chr10:77637490 [GRCh38]
Chr10:79397248 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1311T>C (p.Asn437=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002089882] Chr10:77090423 [GRCh38]
Chr10:78850181 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3138C>T (p.Leu1046=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002208308] Chr10:76909975 [GRCh38]
Chr10:78669733 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2267-19G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002185588] Chr10:76970086 [GRCh38]
Chr10:78729844 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.884+18A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002088767] Chr10:77120955 [GRCh38]
Chr10:78880713 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.405A>G (p.Ser135=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002128866] Chr10:77403997 [GRCh38]
Chr10:79163755 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3342+16C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002096161] Chr10:76891509 [GRCh38]
Chr10:78651267 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1224-9C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002174958] Chr10:77090519 [GRCh38]
Chr10:78850277 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2092+20C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002109150] Chr10:77011947 [GRCh38]
Chr10:78771705 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.135CTCTTC[1] (p.Ser59_Ser60del) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002195029]|Inborn genetic diseases [RCV002561572] Chr10:77637497..77637502 [GRCh38]
Chr10:79397255..79397260 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3087G>T (p.Thr1029=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002216173] Chr10:76910026 [GRCh38]
Chr10:78669784 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.541-12C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002116494] Chr10:77251268 [GRCh38]
Chr10:79011026 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1335-11T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002167254] Chr10:77086604 [GRCh38]
Chr10:78846362 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2484+20T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002152512] Chr10:76953781 [GRCh38]
Chr10:78713539 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2902+7A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002080947] Chr10:76944766 [GRCh38]
Chr10:78704524 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2015+10T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002093126] Chr10:77019003 [GRCh38]
Chr10:78778761 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3016+13G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002080568] Chr10:76914923 [GRCh38]
Chr10:78674681 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.117C>T (p.Ser39=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002097229] Chr10:77637526 [GRCh38]
Chr10:79397284 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1523+15G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002093504] Chr10:77084622 [GRCh38]
Chr10:78844380 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.51C>T (p.Gly17=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002173938] Chr10:77637592 [GRCh38]
Chr10:79397350 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2619G>A (p.Glu873=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002115083] Chr10:76949232 [GRCh38]
Chr10:78708990 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3147+14T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002187512] Chr10:76909952 [GRCh38]
Chr10:78669710 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1929-18T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002175069] Chr10:77019117 [GRCh38]
Chr10:78778875 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2737A>C (p.Arg913=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002079931] Chr10:76944938 [GRCh38]
Chr10:78704696 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1132-20T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002094155] Chr10:77108592 [GRCh38]
Chr10:78868350 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.694C>A (p.Arg232=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002107432] Chr10:77184825 [GRCh38]
Chr10:78944583 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2019A>G (p.Ala673=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002072392] Chr10:77012040 [GRCh38]
Chr10:78771798 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1334+20G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002174688] Chr10:77090380 [GRCh38]
Chr10:78850138 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1335-14C>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002151593] Chr10:77086607 [GRCh38]
Chr10:78846365 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.603-19dup duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002124756] Chr10:77184934..77184935 [GRCh38]
Chr10:78944692..78944693 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.379-17G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002104339] Chr10:77404040 [GRCh38]
Chr10:79163798 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1593+18C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002168726] Chr10:77079463 [GRCh38]
Chr10:78839221 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.603-15C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002151694] Chr10:77184931 [GRCh38]
Chr10:78944689 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.15C>T (p.Gly5=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002149162] Chr10:77637628 [GRCh38]
Chr10:79397386 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1593+7G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002085656] Chr10:77079474 [GRCh38]
Chr10:78839232 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2902+8C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002087103] Chr10:76944765 [GRCh38]
Chr10:78704523 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1750-15_1750-14del microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002111465] Chr10:77039651..77039652 [GRCh38]
Chr10:78799409..78799410 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1524-19T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002149470] Chr10:77079569 [GRCh38]
Chr10:78839327 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2903-5A>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002194975] Chr10:76915054 [GRCh38]
Chr10:78674812 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1551G>A (p.Pro517=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002112988] Chr10:77079523 [GRCh38]
Chr10:78839281 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1929-19_1929-16del microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002133422] Chr10:77019115..77019118 [GRCh38]
Chr10:78778873..78778876 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1749+16A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002186812] Chr10:77073081 [GRCh38]
Chr10:78832839 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3461+17A>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002097030] Chr10:76889434 [GRCh38]
Chr10:78649192 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1660T>C (p.Leu554=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002207227] Chr10:77073186 [GRCh38]
Chr10:78832944 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.696+15C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002194451] Chr10:77184808 [GRCh38]
Chr10:78944566 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.651C>T (p.Ile217=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002116816] Chr10:77184868 [GRCh38]
Chr10:78944626 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1928+8T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002195025] Chr10:77027815 [GRCh38]
Chr10:78787573 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2267-10G>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002080484] Chr10:76970077 [GRCh38]
Chr10:78729835 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3435C>G (p.Leu1145=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002188032] Chr10:76889477 [GRCh38]
Chr10:78649235 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1593+19G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002117540] Chr10:77079462 [GRCh38]
Chr10:78839220 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.379-114292C>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002227755] Chr10:77518315 [GRCh38]
Chr10:79278073 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1523+19C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002202012] Chr10:77084618 [GRCh38]
Chr10:78844376 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1860-20G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002121848] Chr10:77027911 [GRCh38]
Chr10:78787669 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2898C>T (p.Ser966=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002199959] Chr10:76944777 [GRCh38]
Chr10:78704535 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.884+14C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002098456] Chr10:77120959 [GRCh38]
Chr10:78880717 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.696+13A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002201909] Chr10:77184810 [GRCh38]
Chr10:78944568 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.379-12C>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002120161] Chr10:77404035 [GRCh38]
Chr10:79163793 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1131+11del deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002082025] Chr10:77110162 [GRCh38]
Chr10:78869920 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.2715G>A (p.Thr905=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002120989] Chr10:76944960 [GRCh38]
Chr10:78704718 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.537C>T (p.Val179=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002100054] Chr10:77403865 [GRCh38]
Chr10:79163623 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.666C>T (p.Asn222=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002098630] Chr10:77184853 [GRCh38]
Chr10:78944611 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3297C>T (p.Arg1099=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002217838] Chr10:76891570 [GRCh38]
Chr10:78651328 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1965A>G (p.Gln655=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002162754] Chr10:77019063 [GRCh38]
Chr10:78778821 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.459C>T (p.Ala153=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002164524]|not provided [RCV003418403] Chr10:77403943 [GRCh38]
Chr10:79163701 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1523+7C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002082805] Chr10:77084630 [GRCh38]
Chr10:78844388 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3546C>T (p.Ala1182=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002099287] Chr10:76887431 [GRCh38]
Chr10:78647189 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3426T>C (p.Asp1142=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002119103] Chr10:76889486 [GRCh38]
Chr10:78649244 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1014C>T (p.Thr338=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002216411] Chr10:77110290 [GRCh38]
Chr10:78870048 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1928+11G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002098130] Chr10:77027812 [GRCh38]
Chr10:78787570 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3207G>A (p.Thr1069=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002182664]|not provided [RCV003418364] Chr10:76891660 [GRCh38]
Chr10:78651418 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2016-15A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002154459] Chr10:77012058 [GRCh38]
Chr10:78771816 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.900G>A (p.Leu300=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002140867] Chr10:77112427 [GRCh38]
Chr10:78872185 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.312C>T (p.Ile104=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002135951] Chr10:77637331 [GRCh38]
Chr10:79397089 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1458A>G (p.Ala486=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002203520] Chr10:77084702 [GRCh38]
Chr10:78844460 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2799T>C (p.Ile933=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002083824] Chr10:76944876 [GRCh38]
Chr10:78704634 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3343-17C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002139831] Chr10:76889586 [GRCh38]
Chr10:78649344 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1842C>T (p.Ser614=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002120905] Chr10:77039545 [GRCh38]
Chr10:78799303 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.690C>G (p.Gly230=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002143750] Chr10:77184829 [GRCh38]
Chr10:78944587 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3147+10C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002138863]|not specified [RCV002240303] Chr10:76909956 [GRCh38]
Chr10:78669714 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.1885C>T (p.Leu629=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002137086] Chr10:77027866 [GRCh38]
Chr10:78787624 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1859+10C>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002161649] Chr10:77039518 [GRCh38]
Chr10:78799276 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.809-11C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002153892] Chr10:77121059 [GRCh38]
Chr10:78880817 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1827C>A (p.Ala609=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002139129] Chr10:77039560 [GRCh38]
Chr10:78799318 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2360+11G>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002220825] Chr10:76969963 [GRCh38]
Chr10:78729721 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1223+17G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002179423] Chr10:77108464 [GRCh38]
Chr10:78868222 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3690C>T (p.Tyr1230=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002159653] Chr10:76887287 [GRCh38]
Chr10:78647045 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2361-19C>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002198459] Chr10:76953943 [GRCh38]
Chr10:78713701 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2485-6T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002176096] Chr10:76949372 [GRCh38]
Chr10:78709130 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1224-13C>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002198412] Chr10:77090523 [GRCh38]
Chr10:78850281 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.366G>A (p.Gly122=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002219478] Chr10:77637277 [GRCh38]
Chr10:79397035 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.321C>T (p.Leu107=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002120487] Chr10:77637322 [GRCh38]
Chr10:79397080 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2902+10G>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002141879] Chr10:76944763 [GRCh38]
Chr10:78704521 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.808+11CT[2] microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002140253] Chr10:77183405..77183406 [GRCh38]
Chr10:78943163..78943164 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.270C>T (p.Phe90=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002218112] Chr10:77637373 [GRCh38]
Chr10:79397131 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1386G>A (p.Gln462=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002138902] Chr10:77086542 [GRCh38]
Chr10:78846300 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2902+11C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002159245] Chr10:76944762 [GRCh38]
Chr10:78704520 [GRCh37]
Chr10:10q22.3
likely benign
NC_000010.10:g.(?_79163600)_(79799964_?)dup duplication not provided [RCV003109606] Chr10:79163600..79799964 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1456G>A (p.Ala486Thr) single nucleotide variant not provided [RCV003109942] Chr10:77084704 [GRCh38]
Chr10:78844462 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2326C>T (p.Arg776Trp) single nucleotide variant not provided [RCV003110030] Chr10:76970008 [GRCh38]
Chr10:78729766 [GRCh37]
Chr10:10q22.3
uncertain significance
NC_000010.10:g.(?_75671314)_(79799964_?)dup duplication Genitopatellar syndrome [RCV003116588] Chr10:75671314..79799964 [GRCh37]
Chr10:10q22.2-22.3
uncertain significance
NM_001161352.2(KCNMA1):c.34_48del (p.Ser12_Gly16del) deletion not provided [RCV003156478] Chr10:77637595..77637609 [GRCh38]
Chr10:79397353..79397367 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2484+33G>A single nucleotide variant not provided [RCV002244447] Chr10:76953768 [GRCh38]
Chr10:78713526 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2594G>A (p.Arg865His) single nucleotide variant Liang-Wang syndrome [RCV002245508] Chr10:76949257 [GRCh38]
Chr10:78709015 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2143G>A (p.Gly715Arg) single nucleotide variant See cases [RCV002252952] Chr10:77001530 [GRCh38]
Chr10:78761288 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg) single nucleotide variant not provided [RCV003154335]|not specified [RCV003396928] Chr10:76889469 [GRCh38]
Chr10:78649227 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1A>C (p.Met1Leu) single nucleotide variant not provided [RCV003318990] Chr10:77637642 [GRCh38]
Chr10:79397400 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001161352.2(KCNMA1):c.2547C>A (p.Asp849Glu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002266687]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003120863] Chr10:76949304 [GRCh38]
Chr10:78709062 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3295C>T (p.Arg1099Cys) single nucleotide variant See cases [RCV002287800] Chr10:76891572 [GRCh38]
Chr10:78651330 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1224-326G>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002266635] Chr10:77090836 [GRCh38]
Chr10:78850594 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2986G>T (p.Gly996Trp) single nucleotide variant not provided [RCV002273533] Chr10:76914966 [GRCh38]
Chr10:78674724 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3625A>G (p.Ile1209Val) single nucleotide variant not provided [RCV002293952] Chr10:76887352 [GRCh38]
Chr10:78647110 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3347G>C (p.Gly1116Ala) single nucleotide variant not provided [RCV002288071] Chr10:76889565 [GRCh38]
Chr10:78649323 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.379-51304del deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002266690] Chr10:77455327 [GRCh38]
Chr10:79215085 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.36CGG[5] (p.Gly19_Gly20del) microsatellite not provided [RCV003131321] Chr10:77637587..77637592 [GRCh38]
Chr10:79397345..79397350 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1483T>C (p.Cys495Arg) single nucleotide variant not provided [RCV002469685] Chr10:77084677 [GRCh38]
Chr10:78844435 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.897G>A (p.Lys299=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002726913] Chr10:77112430 [GRCh38]
Chr10:78872188 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.694C>T (p.Arg232Trp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002296093] Chr10:77184825 [GRCh38]
Chr10:78944583 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1343C>G (p.Pro448Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002300397] Chr10:77086585 [GRCh38]
Chr10:78846343 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2485A>G (p.Thr829Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002295115] Chr10:76949366 [GRCh38]
Chr10:78709124 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.27_37delinsTGGCGGCGGCGGCGGCGGCAGCA (p.Ser11_Gly13delinsGlyGlyGlyGlyGlySerSer) indel not provided [RCV002306014] Chr10:77637606..77637616 [GRCh38]
Chr10:79397364..79397374 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2881G>A (p.Val961Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002298036] Chr10:76944794 [GRCh38]
Chr10:78704552 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.349G>C (p.Val117Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002295099] Chr10:77637294 [GRCh38]
Chr10:79397052 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2536A>G (p.Ile846Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002295835] Chr10:76949315 [GRCh38]
Chr10:78709073 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1585C>T (p.His529Tyr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002301896] Chr10:77079489 [GRCh38]
Chr10:78839247 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.452C>T (p.Ala151Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002301891] Chr10:77403950 [GRCh38]
Chr10:79163708 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2951T>C (p.Val984Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002301965] Chr10:76915001 [GRCh38]
Chr10:78674759 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2316T>A (p.Asn772Lys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002303272]|KCNMA1-related condition [RCV003403783] Chr10:76970018 [GRCh38]
Chr10:78729776 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1752T>A (p.Ile584=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003013939] Chr10:77039635 [GRCh38]
Chr10:78799393 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2977A>G (p.Ile993Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002617215] Chr10:76914975 [GRCh38]
Chr10:78674733 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1593+9G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002994950] Chr10:77079472 [GRCh38]
Chr10:78839230 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3498C>T (p.Leu1166=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002903043] Chr10:76887479 [GRCh38]
Chr10:78647237 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2332T>A (p.Ser778Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002839353] Chr10:76970002 [GRCh38]
Chr10:78729760 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3147+19T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002903185] Chr10:76909947 [GRCh38]
Chr10:78669705 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.379-16C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003095323] Chr10:77404039 [GRCh38]
Chr10:79163797 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3588G>T (p.Ser1196=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003016566] Chr10:76887389 [GRCh38]
Chr10:78647147 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2485-11C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002681602] Chr10:76949377 [GRCh38]
Chr10:78709135 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1315G>A (p.Glu439Lys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002839272] Chr10:77090419 [GRCh38]
Chr10:78850177 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3467T>C (p.Val1156Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002820044] Chr10:76887510 [GRCh38]
Chr10:78647268 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1A>G (p.Met1Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003076624] Chr10:77637642 [GRCh38]
Chr10:79397400 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.644T>C (p.Leu215Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003016799] Chr10:77184875 [GRCh38]
Chr10:78944633 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.718T>C (p.Leu240=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002618529] Chr10:77183511 [GRCh38]
Chr10:78943269 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3590A>G (p.Gln1197Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002843725] Chr10:76887387 [GRCh38]
Chr10:78647145 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2337C>T (p.Pro779=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002843726] Chr10:76969997 [GRCh38]
Chr10:78729755 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1928+10_1928+11insT insertion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002842993] Chr10:77027812..77027813 [GRCh38]
Chr10:78787570..78787571 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.463G>A (p.Glu155Lys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003015403]|not provided [RCV003418705] Chr10:77403939 [GRCh38]
Chr10:79163697 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1335C>T (p.Asn445=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002863217] Chr10:77086593 [GRCh38]
Chr10:78846351 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.28G>T (p.Gly10Cys) single nucleotide variant Inborn genetic diseases [RCV002840281] Chr10:77637615 [GRCh38]
Chr10:79397373 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.319C>T (p.Leu107Phe) single nucleotide variant Inborn genetic diseases [RCV002818655] Chr10:77637324 [GRCh38]
Chr10:79397082 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3343-15T>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002842422] Chr10:76889584 [GRCh38]
Chr10:78649342 [GRCh37]
Chr10:10q22.3
likely benign
NM_001322830.2(KCNMA1):c.3620A>G (p.Lys1207Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002510648] Chr10:76877888 [GRCh38]
Chr10:78637646 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1860G>C (p.Glu620Asp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002681236] Chr10:77027891 [GRCh38]
Chr10:78787649 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3575C>T (p.Ser1192Phe) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002819148] Chr10:76887402 [GRCh38]
Chr10:78647160 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.697-18A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003017409] Chr10:77183550 [GRCh38]
Chr10:78943308 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.147_167dup (p.Ser60_Val61insSerSerSerSerSerSerSer) duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003016150] Chr10:77637475..77637476 [GRCh38]
Chr10:79397233..79397234 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1134C>T (p.Ala378=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002947506] Chr10:77108570 [GRCh38]
Chr10:78868328 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1928+9G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002842994] Chr10:77027814 [GRCh38]
Chr10:78787572 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.602+17A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003081585] Chr10:77251178 [GRCh38]
Chr10:79010936 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1161C>A (p.Ile387=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003018301] Chr10:77108543 [GRCh38]
Chr10:78868301 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.688G>A (p.Gly230Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002695995] Chr10:77184831 [GRCh38]
Chr10:78944589 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1512G>A (p.Ser504=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002663115] Chr10:77084648 [GRCh38]
Chr10:78844406 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2559C>G (p.Ala853=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002571826] Chr10:76949292 [GRCh38]
Chr10:78709050 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3192G>C (p.Val1064=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002914125] Chr10:76891675 [GRCh38]
Chr10:78651433 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1131+20A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003081673] Chr10:77110153 [GRCh38]
Chr10:78869911 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.468C>G (p.Val156=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002889888] Chr10:77403934 [GRCh38]
Chr10:79163692 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1377T>C (p.His459=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003080262] Chr10:77086551 [GRCh38]
Chr10:78846309 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1467C>A (p.Ile489=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002824629] Chr10:77084693 [GRCh38]
Chr10:78844451 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.282C>T (p.Ser94=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002871429] Chr10:77637361 [GRCh38]
Chr10:79397119 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2903-11C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002640322] Chr10:76915060 [GRCh38]
Chr10:78674818 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1897A>G (p.Ile633Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002640186] Chr10:77027854 [GRCh38]
Chr10:78787612 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.24_56del (p.Gly10_Gly20del) deletion Inborn genetic diseases [RCV002844165]|not provided [RCV003420443] Chr10:77637587..77637619 [GRCh38]
Chr10:79397345..79397377 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3634A>G (p.Thr1212Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002591895]|Inborn genetic diseases [RCV003250783] Chr10:76887343 [GRCh38]
Chr10:78647101 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1750-12C>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003020648] Chr10:77039649 [GRCh38]
Chr10:78799407 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1213A>T (p.Ser405Cys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002820886] Chr10:77108491 [GRCh38]
Chr10:78868249 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2583G>A (p.Val861=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002912514] Chr10:76949268 [GRCh38]
Chr10:78709026 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3147+20C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002690564] Chr10:76909946 [GRCh38]
Chr10:78669704 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1044C>T (p.Val348=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002761419] Chr10:77110260 [GRCh38]
Chr10:78870018 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.378+12_378+13delinsAA indel Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002866304] Chr10:77637252..77637253 [GRCh38]
Chr10:79397010..79397011 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.961-17T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002824890] Chr10:77110360 [GRCh38]
Chr10:78870118 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.156CTC[4] (p.Ser60_Val61insSer) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002761110] Chr10:77637478..77637479 [GRCh38]
Chr10:79397236..79397237 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1594G>A (p.Ala532Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002797114] Chr10:77073252 [GRCh38]
Chr10:78833010 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3633C>T (p.Ser1211=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003020855] Chr10:76887344 [GRCh38]
Chr10:78647102 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.88C>T (p.His30Tyr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002781507] Chr10:77637555 [GRCh38]
Chr10:79397313 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1806C>T (p.Tyr602=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002846421] Chr10:77039581 [GRCh38]
Chr10:78799339 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2480T>C (p.Ile827Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002913679] Chr10:76953805 [GRCh38]
Chr10:78713563 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.761C>T (p.Thr254Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002913134] Chr10:77183468 [GRCh38]
Chr10:78943226 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1524-20A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003021645] Chr10:77079570 [GRCh38]
Chr10:78839328 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1334+16T>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002976060] Chr10:77090384 [GRCh38]
Chr10:78850142 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2710-8_2710-7inv inversion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002637985] Chr10:76944972..76944973 [GRCh38]
Chr10:78704730..78704731 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3345T>C (p.Asp1115=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002889154] Chr10:76889567 [GRCh38]
Chr10:78649325 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3290G>A (p.Arg1097His) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003018291] Chr10:76891577 [GRCh38]
Chr10:78651335 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1441-9G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002622229] Chr10:77084728 [GRCh38]
Chr10:78844486 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.31_57del (p.Ser11_Gly19del) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003038432] Chr10:77637586..77637612 [GRCh38]
Chr10:79397344..79397370 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.735A>G (p.Glu245=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002796685] Chr10:77183494 [GRCh38]
Chr10:78943252 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2476G>C (p.Val826Leu) single nucleotide variant not provided [RCV002508406] Chr10:76953809 [GRCh38]
Chr10:78713567 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1830C>T (p.Phe610=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002957924] Chr10:77039557 [GRCh38]
Chr10:78799315 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2408A>G (p.Asp803Gly) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002663482] Chr10:76953877 [GRCh38]
Chr10:78713635 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2629A>G (p.Ile877Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003026101] Chr10:76949222 [GRCh38]
Chr10:78708980 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.336G>A (p.Lys112=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002791542] Chr10:77637307 [GRCh38]
Chr10:79397065 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2373G>A (p.Leu791=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002852836] Chr10:76953912 [GRCh38]
Chr10:78713670 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2383G>C (p.Gly795Arg) single nucleotide variant Inborn genetic diseases [RCV002875276] Chr10:76953902 [GRCh38]
Chr10:78713660 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.144_170dup (p.Ser60_Val61insSerSerSerSerSerSerSerSerSer) duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003059741] Chr10:77637472..77637473 [GRCh38]
Chr10:79397230..79397231 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1260T>C (p.Ser420=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002667406] Chr10:77090474 [GRCh38]
Chr10:78850232 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1334+19T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003039914] Chr10:77090381 [GRCh38]
Chr10:78850139 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1335-3T>C single nucleotide variant Inborn genetic diseases [RCV002803923] Chr10:77086596 [GRCh38]
Chr10:78846354 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.228G>A (p.Glu76=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002574455] Chr10:77637415 [GRCh38]
Chr10:79397173 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3462-9C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003040519] Chr10:76887524 [GRCh38]
Chr10:78647282 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.55_63dup (p.Ser21_Ser22insGlyGlySer) duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002890865] Chr10:77637579..77637580 [GRCh38]
Chr10:79397337..79397338 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3017-9T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002851775] Chr10:76910105 [GRCh38]
Chr10:78669863 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3156C>T (p.Phe1052=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002828091] Chr10:76891711 [GRCh38]
Chr10:78651469 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3017T>C (p.Val1006Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003057337] Chr10:76910096 [GRCh38]
Chr10:78669854 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3623C>A (p.Ser1208Tyr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002917752] Chr10:76887354 [GRCh38]
Chr10:78647112 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.243C>T (p.Ser81=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003023671] Chr10:77637400 [GRCh38]
Chr10:79397158 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.507G>T (p.Met169Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002928544] Chr10:77403895 [GRCh38]
Chr10:79163653 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.28G>A (p.Gly10Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002918026] Chr10:77637615 [GRCh38]
Chr10:79397373 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3440C>A (p.Thr1147Asn) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002642524] Chr10:76889472 [GRCh38]
Chr10:78649230 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3123T>C (p.Ser1041=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002805667] Chr10:76909990 [GRCh38]
Chr10:78669748 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3480G>T (p.Pro1160=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002576188] Chr10:76887497 [GRCh38]
Chr10:78647255 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1089A>C (p.Thr363=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002894376] Chr10:77110215 [GRCh38]
Chr10:78869973 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.424C>T (p.Leu142Phe) single nucleotide variant Inborn genetic diseases [RCV002850055] Chr10:77403978 [GRCh38]
Chr10:79163736 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2556A>G (p.Ser852=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003056564] Chr10:76949295 [GRCh38]
Chr10:78709053 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1925G>A (p.Ser642Asn) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002917673] Chr10:77027826 [GRCh38]
Chr10:78787584 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.384C>T (p.Ala128=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003024956] Chr10:77404018 [GRCh38]
Chr10:79163776 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1523+20G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003007338] Chr10:77084617 [GRCh38]
Chr10:78844375 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2820C>T (p.Asp940=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002664137] Chr10:76944855 [GRCh38]
Chr10:78704613 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2305A>G (p.Lys769Glu) single nucleotide variant Inborn genetic diseases [RCV002717884] Chr10:76970029 [GRCh38]
Chr10:78729787 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.885-16G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002581821] Chr10:77112458 [GRCh38]
Chr10:78872216 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1441-7G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003031864] Chr10:77084726 [GRCh38]
Chr10:78844484 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3693G>T (p.Val1231=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003046552] Chr10:76887284 [GRCh38]
Chr10:78647042 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3181C>T (p.Arg1061Trp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002647191] Chr10:76891686 [GRCh38]
Chr10:78651444 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3302C>T (p.Ala1101Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002900189] Chr10:76891565 [GRCh38]
Chr10:78651323 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1440+16T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002675805] Chr10:77086472 [GRCh38]
Chr10:78846230 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.589A>G (p.Ile197Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002581981] Chr10:77251208 [GRCh38]
Chr10:79010966 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1586A>G (p.His529Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002806457] Chr10:77079488 [GRCh38]
Chr10:78839246 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.466G>A (p.Val156Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003047151] Chr10:77403936 [GRCh38]
Chr10:79163694 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3587C>T (p.Ser1196Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002632515] Chr10:76887390 [GRCh38]
Chr10:78647148 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.233C>T (p.Pro78Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003031510] Chr10:77637410 [GRCh38]
Chr10:79397168 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3630A>G (p.Pro1210=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002721040] Chr10:76887347 [GRCh38]
Chr10:78647105 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1266C>T (p.Ser422=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002770654] Chr10:77090468 [GRCh38]
Chr10:78850226 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.484G>A (p.Val162Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002670886] Chr10:77403918 [GRCh38]
Chr10:79163676 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1344C>T (p.Pro448=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003089625] Chr10:77086584 [GRCh38]
Chr10:78846342 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1373G>A (p.Arg458Gln) single nucleotide variant Inborn genetic diseases [RCV002747230] Chr10:77086555 [GRCh38]
Chr10:78846313 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1860-20G>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002599343] Chr10:77027911 [GRCh38]
Chr10:78787669 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3054TGA[4] (p.Asp1021_Pro1022insAsp) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002833210] Chr10:76910050..76910051 [GRCh38]
Chr10:78669808..78669809 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.891C>T (p.Ser297=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002856959] Chr10:77112436 [GRCh38]
Chr10:78872194 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.378+8G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002649309] Chr10:77637257 [GRCh38]
Chr10:79397015 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.396C>A (p.Asn132Lys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002671234] Chr10:77404006 [GRCh38]
Chr10:79163764 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2550C>T (p.Val850=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003008415] Chr10:76949301 [GRCh38]
Chr10:78709059 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3148-17T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002810377] Chr10:76891736 [GRCh38]
Chr10:78651494 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1817T>C (p.Leu606Pro) single nucleotide variant Inborn genetic diseases [RCV002809927] Chr10:77039570 [GRCh38]
Chr10:78799328 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.972A>G (p.Ser324=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003010244] Chr10:77110332 [GRCh38]
Chr10:78870090 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.104G>A (p.Ser35Asn) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003044382] Chr10:77637539 [GRCh38]
Chr10:79397297 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3608G>T (p.Ser1203Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003043902] Chr10:76887369 [GRCh38]
Chr10:78647127 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3241G>A (p.Ala1081Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003087820]|not provided [RCV003456545] Chr10:76891626 [GRCh38]
Chr10:78651384 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1962C>T (p.Ile654=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003048209] Chr10:77019066 [GRCh38]
Chr10:78778824 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3651C>G (p.Asn1217Lys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002720071] Chr10:76887326 [GRCh38]
Chr10:78647084 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.412G>A (p.Ala138Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002646809] Chr10:77403990 [GRCh38]
Chr10:79163748 [GRCh37]
Chr10:10q22.3
benign
NM_001161352.2(KCNMA1):c.1860-12A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003062456] Chr10:77027903 [GRCh38]
Chr10:78787661 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.44G>A (p.Gly15Asp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003060733] Chr10:77637599 [GRCh38]
Chr10:79397357 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1149C>T (p.Tyr383=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002938566] Chr10:77108555 [GRCh38]
Chr10:78868313 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.46G>A (p.Gly16Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002938214] Chr10:77637597 [GRCh38]
Chr10:79397355 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3016+10A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002770743] Chr10:76914926 [GRCh38]
Chr10:78674684 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.135CTCTTC[3] (p.Ser60_Val61insSerSer) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002601839] Chr10:77637496..77637497 [GRCh38]
Chr10:79397254..79397255 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3141G>A (p.Met1047Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002833323] Chr10:76909972 [GRCh38]
Chr10:78669730 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1408G>A (p.Val470Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003092630] Chr10:77086520 [GRCh38]
Chr10:78846278 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1795A>G (p.Asn599Asp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002680723] Chr10:77039592 [GRCh38]
Chr10:78799350 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2856T>C (p.Ser952=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002725984] Chr10:76944819 [GRCh38]
Chr10:78704577 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2710-17T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002653972] Chr10:76944982 [GRCh38]
Chr10:78704740 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3017-19T>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003051039] Chr10:76910115 [GRCh38]
Chr10:78669873 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.541-13T>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002725750] Chr10:77251269 [GRCh38]
Chr10:79011027 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2948C>G (p.Pro983Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002658008] Chr10:76915004 [GRCh38]
Chr10:78674762 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2267-10G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003068131] Chr10:76970077 [GRCh38]
Chr10:78729835 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2956G>A (p.Gly986Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002605758] Chr10:76914996 [GRCh38]
Chr10:78674754 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.540+16C>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003069482] Chr10:77403846 [GRCh38]
Chr10:79163604 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.125C>T (p.Ser42Phe) single nucleotide variant Inborn genetic diseases [RCV002722751] Chr10:77637518 [GRCh38]
Chr10:79397276 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2751C>T (p.Ile917=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002653252] Chr10:76944924 [GRCh38]
Chr10:78704682 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3139A>G (p.Met1047Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003049481] Chr10:76909974 [GRCh38]
Chr10:78669732 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3342+11A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002681080] Chr10:76891514 [GRCh38]
Chr10:78651272 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1650C>T (p.Cys550=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002654735] Chr10:77073196 [GRCh38]
Chr10:78832954 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.809-4C>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002725485] Chr10:77121052 [GRCh38]
Chr10:78880810 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1088C>T (p.Thr363Ile) single nucleotide variant not provided [RCV003129549] Chr10:77110216 [GRCh38]
Chr10:78869974 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.186C>G (p.His62Gln) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003072587] Chr10:77637457 [GRCh38]
Chr10:79397215 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3148-10C>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002608388] Chr10:76891729 [GRCh38]
Chr10:78651487 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.52_60dup (p.Gly20_Ser21insGlyGlyGly) duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002586901] Chr10:77637582..77637583 [GRCh38]
Chr10:79397340..79397341 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2709+17A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003066553] Chr10:76949125 [GRCh38]
Chr10:78708883 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.31_45dup (p.Gly15_Gly16insSerSerGlyGlyGly) duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002605910]|not provided [RCV003130846] Chr10:77637597..77637598 [GRCh38]
Chr10:79397355..79397356 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.428A>C (p.Lys143Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002608999] Chr10:77403974 [GRCh38]
Chr10:79163732 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2509G>A (p.Val837Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003050812] Chr10:76949342 [GRCh38]
Chr10:78709100 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1461C>T (p.Cys487=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002612799] Chr10:77084699 [GRCh38]
Chr10:78844457 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.204G>T (p.Ala68=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002611590] Chr10:77637439 [GRCh38]
Chr10:79397197 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2681A>T (p.His894Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003051776] Chr10:76949170 [GRCh38]
Chr10:78708928 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.54C>G (p.Gly18=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003072652] Chr10:77637589 [GRCh38]
Chr10:79397347 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2902+18T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002612775] Chr10:76944755 [GRCh38]
Chr10:78704513 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2339A>G (p.Asn780Ser) single nucleotide variant not provided [RCV003131319] Chr10:76969995 [GRCh38]
Chr10:78729753 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.358C>T (p.His120Tyr) single nucleotide variant not provided [RCV003131318] Chr10:77637285 [GRCh38]
Chr10:79397043 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3147+8A>G single nucleotide variant not provided [RCV003131320] Chr10:76909958 [GRCh38]
Chr10:78669716 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2837C>T (p.Ala946Val) single nucleotide variant not provided [RCV003142592] Chr10:76944838 [GRCh38]
Chr10:78704596 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2651A>T (p.Glu884Val) single nucleotide variant not provided [RCV003222673] Chr10:76949200 [GRCh38]
Chr10:78708958 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2484+1746C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003224695] Chr10:76952055 [GRCh38]
Chr10:78711813 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3569C>G (p.Ser1190Cys) single nucleotide variant not provided [RCV003218920] Chr10:76887408 [GRCh38]
Chr10:78647166 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3425A>G (p.Asp1142Gly) single nucleotide variant not provided [RCV003228246] Chr10:76889487 [GRCh38]
Chr10:78649245 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.476T>A (p.Met159Lys) single nucleotide variant Inborn genetic diseases [RCV003219732] Chr10:77403926 [GRCh38]
Chr10:79163684 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1595C>T (p.Ala532Val) single nucleotide variant not provided [RCV003133802] Chr10:77073251 [GRCh38]
Chr10:78833009 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.412G>C (p.Ala138Pro) single nucleotide variant not provided [RCV003323231] Chr10:77403990 [GRCh38]
Chr10:79163748 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1441-10G>A single nucleotide variant not provided [RCV003319056] Chr10:77084729 [GRCh38]
Chr10:78844487 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3280A>G (p.Asn1094Asp) single nucleotide variant not provided [RCV003319701] Chr10:76891587 [GRCh38]
Chr10:78651345 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1079C>T (p.Ala360Val) single nucleotide variant not provided [RCV003319848] Chr10:77110225 [GRCh38]
Chr10:78869983 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.858G>T (p.Leu286Phe) single nucleotide variant not provided [RCV003319129] Chr10:77120999 [GRCh38]
Chr10:78880757 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1385A>T (p.Gln462Leu) single nucleotide variant not provided [RCV003327783] Chr10:77086543 [GRCh38]
Chr10:78846301 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
NM_001161352.2(KCNMA1):c.1751T>C (p.Ile584Thr) single nucleotide variant not provided [RCV003329986] Chr10:77039636 [GRCh38]
Chr10:78799394 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1498G>A (p.Ala500Thr) single nucleotide variant not provided [RCV003329651] Chr10:77084662 [GRCh38]
Chr10:78844420 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001014797.3(KCNMA1):c.3525-6C>A single nucleotide variant not provided [RCV003326793] Chr10:76877899 [GRCh38]
Chr10:78637657 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.112G>T (p.Ala38Ser) single nucleotide variant not provided [RCV003329947] Chr10:77637531 [GRCh38]
Chr10:79397289 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2146C>T (p.Arg716Cys) single nucleotide variant not provided [RCV003326794] Chr10:77001527 [GRCh38]
Chr10:78761285 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3353G>T (p.Cys1118Phe) single nucleotide variant not provided [RCV003332682] Chr10:76889559 [GRCh38]
Chr10:78649317 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.726C>T (p.Phe242=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622902] Chr10:77183503 [GRCh38]
Chr10:78943261 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3585G>A (p.Ser1195=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623457] Chr10:76887392 [GRCh38]
Chr10:78647150 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2475A>T (p.Lys825Asn) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622973] Chr10:76953810 [GRCh38]
Chr10:78713568 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2553C>T (p.Ser851=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622975] Chr10:76949298 [GRCh38]
Chr10:78709056 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2933C>T (p.Ser978Phe) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622939] Chr10:76915019 [GRCh38]
Chr10:78674777 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3342+20G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622966] Chr10:76891505 [GRCh38]
Chr10:78651263 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.741C>T (p.Asn247=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623664] Chr10:77183488 [GRCh38]
Chr10:78943246 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1860-3C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622895] Chr10:77027894 [GRCh38]
Chr10:78787652 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.466G>C (p.Val156Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623128] Chr10:77403936 [GRCh38]
Chr10:79163694 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.436G>A (p.Asp146Asn) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623084] Chr10:77403966 [GRCh38]
Chr10:79163724 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1744A>G (p.Ile582Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623142] Chr10:77073102 [GRCh38]
Chr10:78832860 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1077T>C (p.Tyr359=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623374] Chr10:77110227 [GRCh38]
Chr10:78869985 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.474G>C (p.Trp158Cys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623048] Chr10:77403928 [GRCh38]
Chr10:79163686 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3492T>C (p.Phe1164=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623111] Chr10:76887485 [GRCh38]
Chr10:78647243 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1335-6G>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623221] Chr10:77086599 [GRCh38]
Chr10:78846357 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3541A>G (p.Asn1181Asp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623471] Chr10:76887436 [GRCh38]
Chr10:78647194 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3086C>T (p.Thr1029Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623473] Chr10:76910027 [GRCh38]
Chr10:78669785 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1596C>G (p.Ala532=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623618] Chr10:77073250 [GRCh38]
Chr10:78833008 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.884+13T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623631] Chr10:77120960 [GRCh38]
Chr10:78880718 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2988G>A (p.Gly996=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623642] Chr10:76914964 [GRCh38]
Chr10:78674722 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1749+2T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623493] Chr10:77073095 [GRCh38]
Chr10:78832853 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001161352.2(KCNMA1):c.13GGC[9] (p.Gly10_Ser11insGlyGlyGly) microsatellite Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003875717] Chr10:77637612..77637613 [GRCh38]
Chr10:79397370..79397371 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2034G>A (p.Lys678=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623271] Chr10:77012025 [GRCh38]
Chr10:78771783 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.176C>T (p.Ser59Phe) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623854] Chr10:77637467 [GRCh38]
Chr10:79397225 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.12_17dup (p.Gly10_Ser11insGlyGly) duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623885] Chr10:77637625..77637626 [GRCh38]
Chr10:79397383..79397384 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2353C>G (p.Leu785Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623434] Chr10:76969981 [GRCh38]
Chr10:78729739 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1515T>A (p.Asn505Lys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623469] Chr10:77084645 [GRCh38]
Chr10:78844403 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2326C>A (p.Arg776=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623530] Chr10:76970008 [GRCh38]
Chr10:78729766 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3549C>T (p.Gly1183=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623566] Chr10:76887428 [GRCh38]
Chr10:78647186 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.186C>T (p.His62=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623533] Chr10:77637457 [GRCh38]
Chr10:79397215 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1208C>T (p.Ala403Val) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623598] Chr10:77108496 [GRCh38]
Chr10:78868254 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2902+19A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623752] Chr10:76944754 [GRCh38]
Chr10:78704512 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2360+13G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623853] Chr10:76969961 [GRCh38]
Chr10:78729719 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1245C>T (p.His415=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623835] Chr10:77090489 [GRCh38]
Chr10:78850247 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2289A>G (p.Thr763=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623794] Chr10:76970045 [GRCh38]
Chr10:78729803 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.27_56dup (p.Ser22_Leu23insGlyGlyGlyGlyGlyGlyGlyGlySerSer) duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623862] Chr10:77637586..77637587 [GRCh38]
Chr10:79397344..79397345 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2481C>A (p.Ile827=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622481] Chr10:76953804 [GRCh38]
Chr10:78713562 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1612C>G (p.Pro538Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622554] Chr10:77073234 [GRCh38]
Chr10:78832992 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.320T>A (p.Leu107His) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622599] Chr10:77637323 [GRCh38]
Chr10:79397081 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2460C>A (p.Pro820=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622663] Chr10:76953825 [GRCh38]
Chr10:78713583 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3013C>T (p.Leu1005=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622501] Chr10:76914939 [GRCh38]
Chr10:78674697 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3136C>T (p.Leu1046Phe) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622751] Chr10:76909977 [GRCh38]
Chr10:78669735 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2053A>T (p.Thr685Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622806] Chr10:77012006 [GRCh38]
Chr10:78771764 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2302A>G (p.Lys768Glu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003874557] Chr10:76970032 [GRCh38]
Chr10:78729790 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.432A>C (p.Pro144=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622864] Chr10:77403970 [GRCh38]
Chr10:79163728 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3147+13G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622636] Chr10:76909953 [GRCh38]
Chr10:78669711 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2710-14C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622741] Chr10:76944979 [GRCh38]
Chr10:78704737 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2903-4C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622943] Chr10:76915053 [GRCh38]
Chr10:78674811 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1713G>A (p.Met571Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623085] Chr10:77073133 [GRCh38]
Chr10:78832891 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1441-6T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622500] Chr10:77084725 [GRCh38]
Chr10:78844483 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2361-8C>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622711] Chr10:76953932 [GRCh38]
Chr10:78713690 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2926A>G (p.Arg976Gly) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623132] Chr10:76915026 [GRCh38]
Chr10:78674784 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2092+10G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622601] Chr10:77011957 [GRCh38]
Chr10:78771715 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.602+12634G>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622810] Chr10:77238561 [GRCh38]
Chr10:78998319 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2423A>C (p.Lys808Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622954] Chr10:76953862 [GRCh38]
Chr10:78713620 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2795A>G (p.Asn932Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623364] Chr10:76944880 [GRCh38]
Chr10:78704638 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.809-5dup duplication Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623579] Chr10:77121052..77121053 [GRCh38]
Chr10:78880810..78880811 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1339T>C (p.Ser447Pro) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622764] Chr10:77086589 [GRCh38]
Chr10:78846347 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2786A>G (p.Asn929Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623027] Chr10:76944889 [GRCh38]
Chr10:78704647 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1609A>C (p.Ile537Leu) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623167] Chr10:77073237 [GRCh38]
Chr10:78832995 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2267-8A>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623229] Chr10:76970075 [GRCh38]
Chr10:78729833 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1989C>G (p.Ile663Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622408] Chr10:77019039 [GRCh38]
Chr10:78778797 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2396T>C (p.Ile799Thr) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622445] Chr10:76953889 [GRCh38]
Chr10:78713647 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.885-20G>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622459] Chr10:77112462 [GRCh38]
Chr10:78872220 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1653C>G (p.Leu551=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622379] Chr10:77073193 [GRCh38]
Chr10:78832951 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2327G>T (p.Arg776Leu) single nucleotide variant not specified [RCV003479908] Chr10:76970007 [GRCh38]
Chr10:78729765 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2
pathogenic
NM_001161352.2(KCNMA1):c.771del (p.Val258fs) deletion KCNMA1-related condition [RCV003400208] Chr10:77183458 [GRCh38]
Chr10:78943216 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001161352.2(KCNMA1):c.1224-14C>T single nucleotide variant not specified [RCV003479794] Chr10:77090524 [GRCh38]
Chr10:78850282 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2837del (p.Ala946fs) deletion KCNMA1-related condition [RCV003399787] Chr10:76944838 [GRCh38]
Chr10:78704596 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001161352.2(KCNMA1):c.3514A>G (p.Ile1172Val) single nucleotide variant not provided [RCV003441360] Chr10:76887463 [GRCh38]
Chr10:78647221 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3146_3147del (p.Ala1049fs) microsatellite KCNMA1-related condition [RCV003397513] Chr10:76909966..76909967 [GRCh38]
Chr10:78669724..78669725 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2974T>G (p.Ser992Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003448742] Chr10:76914978 [GRCh38]
Chr10:78674736 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2662C>T (p.Arg888Trp) single nucleotide variant not provided [RCV003443402] Chr10:76949189 [GRCh38]
Chr10:78708947 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1546C>G (p.His516Asp) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 16 [RCV003388264] Chr10:77079528 [GRCh38]
Chr10:78839286 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.4G>C (p.Ala2Pro) single nucleotide variant KCNMA1-related condition [RCV003410461] Chr10:77637639 [GRCh38]
Chr10:79397397 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.378+766C>A single nucleotide variant KCNMA1-related condition [RCV003397760] Chr10:77636499 [GRCh38]
Chr10:79396257 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.378+286G>A single nucleotide variant KCNMA1-related condition [RCV003410476] Chr10:77636979 [GRCh38]
Chr10:79396737 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2323A>C (p.Met775Leu) single nucleotide variant KCNMA1-related condition [RCV003402291] Chr10:76970011 [GRCh38]
Chr10:78729769 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3579C>T (p.Ser1193=) single nucleotide variant not provided [RCV003417526] Chr10:76887398 [GRCh38]
Chr10:78647156 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3334G>A (p.Asp1112Asn) single nucleotide variant not provided [RCV003417527] Chr10:76891533 [GRCh38]
Chr10:78651291 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2647A>G (p.Ile883Val) single nucleotide variant not provided [RCV003417528] Chr10:76949204 [GRCh38]
Chr10:78708962 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2484+1764G>A single nucleotide variant not provided [RCV003417529] Chr10:76952037 [GRCh38]
Chr10:78711795 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2484+1659G>A single nucleotide variant not provided [RCV003417530] Chr10:76952142 [GRCh38]
Chr10:78711900 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.541-5T>C single nucleotide variant not provided [RCV003417531] Chr10:77251261 [GRCh38]
Chr10:79011019 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.379-89848G>A single nucleotide variant not provided [RCV003417532] Chr10:77493871 [GRCh38]
Chr10:79253629 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.378+878del deletion not provided [RCV003417533] Chr10:77636387 [GRCh38]
Chr10:79396145 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.378+767C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003455816]|not provided [RCV003417534] Chr10:77636498 [GRCh38]
Chr10:79396256 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_001161352.2(KCNMA1):c.3016+879G>T single nucleotide variant KCNMA1-related condition [RCV003391260] Chr10:76914057 [GRCh38]
Chr10:78673815 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.541G>A (p.Val181Ile) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510286] Chr10:77251256 [GRCh38]
Chr10:79011014 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.584A>C (p.Tyr195Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510322] Chr10:77251213 [GRCh38]
Chr10:79010971 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3016+18C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510330] Chr10:76914918 [GRCh38]
Chr10:78674676 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.87C>G (p.Ile29Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510375] Chr10:77637556 [GRCh38]
Chr10:79397314 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2485-19C>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003878153] Chr10:76949385 [GRCh38]
Chr10:78709143 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.733G>C (p.Glu245Gln) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510535] Chr10:77183496 [GRCh38]
Chr10:78943254 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2523T>C (p.His841=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509120] Chr10:76949328 [GRCh38]
Chr10:78709086 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1593+11G>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003878402] Chr10:77079470 [GRCh38]
Chr10:78839228 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3016+16_3016+17inv inversion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509249] Chr10:76914919..76914920 [GRCh38]
Chr10:78674677..78674678 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2092+11T>A single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509315] Chr10:77011956 [GRCh38]
Chr10:78771714 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3054T>C (p.Asp1018=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509151] Chr10:76910059 [GRCh38]
Chr10:78669817 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3192G>A (p.Val1064=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509348] Chr10:76891675 [GRCh38]
Chr10:78651433 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1600C>T (p.Leu534=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509364] Chr10:77073246 [GRCh38]
Chr10:78833004 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3598A>T (p.Ser1200Cys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510813] Chr10:76887379 [GRCh38]
Chr10:78647137 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2267-14G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510847] Chr10:76970081 [GRCh38]
Chr10:78729839 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1049T>G (p.Met350Arg) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510316] Chr10:77110255 [GRCh38]
Chr10:78870013 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1848T>C (p.Pro616=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510925] Chr10:77039539 [GRCh38]
Chr10:78799297 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1449A>G (p.Ser483=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510372] Chr10:77084711 [GRCh38]
Chr10:78844469 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2710-12T>G single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510395] Chr10:76944977 [GRCh38]
Chr10:78704735 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2689C>T (p.Pro897Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510464] Chr10:76949162 [GRCh38]
Chr10:78708920 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.2487T>G (p.Thr829=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509470] Chr10:76949364 [GRCh38]
Chr10:78709122 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1512G>C (p.Ser504=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510305] Chr10:77084648 [GRCh38]
Chr10:78844406 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3285G>C (p.Arg1095Ser) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510319] Chr10:76891582 [GRCh38]
Chr10:78651340 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3168C>G (p.Ile1056Met) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510325] Chr10:76891699 [GRCh38]
Chr10:78651457 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.765G>C (p.Val255=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510507] Chr10:77183464 [GRCh38]
Chr10:78943222 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1869del (p.Phe623fs) deletion Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510614] Chr10:77027882 [GRCh38]
Chr10:78787640 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001161352.2(KCNMA1):c.543T>C (p.Val181=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510743] Chr10:77251254 [GRCh38]
Chr10:79011012 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2902+11C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509318] Chr10:76944762 [GRCh38]
Chr10:78704520 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.831G>C (p.Leu277=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510157] Chr10:77121026 [GRCh38]
Chr10:78880784 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1112T>G (p.Phe371Cys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510818] Chr10:77110192 [GRCh38]
Chr10:78869950 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.1904A>G (p.Tyr635Cys) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003877662] Chr10:77027847 [GRCh38]
Chr10:78787605 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3066T>C (p.Pro1022=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509337] Chr10:76910047 [GRCh38]
Chr10:78669805 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.744T>C (p.Ser248=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510873] Chr10:77183485 [GRCh38]
Chr10:78943243 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2649T>C (p.Ile883=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510349] Chr10:76949202 [GRCh38]
Chr10:78708960 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.278C>T (p.Ser93Phe) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510364] Chr10:77637365 [GRCh38]
Chr10:79397123 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3016+2T>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510556] Chr10:76914934 [GRCh38]
Chr10:78674692 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001161352.2(KCNMA1):c.1593+19G>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510596] Chr10:77079462 [GRCh38]
Chr10:78839220 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.768C>T (p.Pro256=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003877049] Chr10:77183461 [GRCh38]
Chr10:78943219 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.786G>A (p.Val262=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003511006] Chr10:77183443 [GRCh38]
Chr10:78943201 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1523+12G>C single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003511010] Chr10:77084625 [GRCh38]
Chr10:78844383 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3342+8C>T single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003511083] Chr10:76891517 [GRCh38]
Chr10:78651275 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.105C>T (p.Ser35=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003511089] Chr10:77637538 [GRCh38]
Chr10:79397296 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.455T>C (p.Val152Ala) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510745] Chr10:77403947 [GRCh38]
Chr10:79163705 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001161352.2(KCNMA1):c.3603G>A (p.Lys1201=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510695] Chr10:76887374 [GRCh38]
Chr10:78647132 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.1161C>T (p.Ile387=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510774] Chr10:77108543 [GRCh38]
Chr10:78868301 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.2802T>C (p.Asp934=) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509107] Chr10:76944873 [GRCh38]
Chr10:78704631 [GRCh37]
Chr10:10q22.3
likely benign
NM_001161352.2(KCNMA1):c.3388T>G (p.Tyr1130Asp) single nucleotide variant Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510213] Chr10:76889524 [GRCh38]
Chr10:78649282 [GRCh37]
Chr10:10q22.3
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR211hsa-miR-211-5pMirtarbaseexternal_infoMicroarray//LacZ reporter assayFunctional MTI21072171
MIR211hsa-miR-211-5pOncomiRDBexternal_infoNANA21072171

Predicted Target Of
Summary Value
Count of predictions:8336
Count of miRNA genes:1478
Interacting mature miRNAs:2028
Transcripts:ENST00000286627, ENST00000286628, ENST00000354353, ENST00000372403, ENST00000372408, ENST00000372421, ENST00000372437, ENST00000372440, ENST00000372443, ENST00000404771, ENST00000404857, ENST00000406533, ENST00000428546, ENST00000434208, ENST00000450795, ENST00000457953, ENST00000468471, ENST00000475352, ENST00000480683, ENST00000481070, ENST00000484343, ENST00000484507, ENST00000604624
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D10S109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,763,944 - 78,764,029UniSTSGRCh37
Celera1072,049,195 - 72,049,278UniSTS
Cytogenetic Map10q22.3UniSTS
HuRef1072,758,936 - 72,759,019UniSTS
Marshfield Genetic Map1098.41UniSTS
Marshfield Genetic Map1098.41RGD
deCODE Assembly Map1096.62UniSTS
D10S605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,251,451 - 79,251,557UniSTSGRCh37
GRCh371079,251,427 - 79,251,530UniSTSGRCh37
Build 361078,921,433 - 78,921,536RGDNCBI36
Celera1072,537,776 - 72,537,868UniSTS
Celera1072,537,752 - 72,537,841RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,245,776 - 73,245,882UniSTS
HuRef1073,245,752 - 73,245,855UniSTS
Marshfield Genetic Map1098.41UniSTS
Marshfield Genetic Map1098.41RGD
Genethon Genetic Map10103.2UniSTS
TNG Radiation Hybrid Map1038837.0UniSTS
Stanford-G3 RH Map103621.0UniSTS
NCBI RH Map10946.6UniSTS
GeneMap99-G3 RH Map103597.0UniSTS
D10S1730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,931,033 - 78,931,279UniSTSGRCh37
Build 361078,601,039 - 78,601,285RGDNCBI36
Celera1072,216,901 - 72,217,143RGD
Cytogenetic Map10q22.3UniSTS
Marshfield Genetic Map1098.96UniSTS
Marshfield Genetic Map1098.96RGD
Genethon Genetic Map10103.2UniSTS
TNG Radiation Hybrid Map1039011.0UniSTS
Stanford-G3 RH Map103609.0UniSTS
Whitehead-YAC Contig Map10 UniSTS
NCBI RH Map10945.3UniSTS
GeneMap99-G3 RH Map103585.0UniSTS
RH41997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,396,059 - 79,396,305UniSTSGRCh37
Build 361079,066,065 - 79,066,311RGDNCBI36
Celera1072,682,664 - 72,682,910RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,390,634 - 73,390,880UniSTS
GeneMap99-GB4 RH Map10388.38UniSTS
WI-13549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,636,904 - 78,637,053UniSTSGRCh37
Build 361078,306,910 - 78,307,059RGDNCBI36
Celera1071,921,726 - 71,921,875RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,631,838 - 72,631,987UniSTS
GeneMap99-GB4 RH Map10388.77UniSTS
Whitehead-RH Map10464.5UniSTS
G17456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,184,496 - 79,184,699UniSTSGRCh37
Build 361078,854,502 - 78,854,705RGDNCBI36
Celera1072,470,714 - 72,470,917RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,180,137 - 73,180,340UniSTS
D10S2255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,644,660 - 78,644,909UniSTSGRCh37
Build 361078,314,666 - 78,314,915RGDNCBI36
Celera1071,929,480 - 71,929,729RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,639,592 - 72,639,841UniSTS
Whitehead-YAC Contig Map10 UniSTS
D10S2368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,646,778 - 78,646,879UniSTSGRCh37
Build 361078,316,784 - 78,316,885RGDNCBI36
Celera1071,931,598 - 71,931,699RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,641,710 - 72,641,811UniSTS
D10S2223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,922,243 - 78,922,469UniSTSGRCh37
Build 361078,592,249 - 78,592,475RGDNCBI36
Celera1072,208,142 - 72,208,368RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,917,687 - 72,917,913UniSTS
Whitehead-YAC Contig Map10 UniSTS
SHGC-53476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,009,338 - 79,009,569UniSTSGRCh37
Build 361078,679,344 - 78,679,575RGDNCBI36
Celera1072,295,658 - 72,295,889RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,004,782 - 73,005,013UniSTS
RH92037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,117,103 - 79,117,248UniSTSGRCh37
Build 361078,787,109 - 78,787,254RGDNCBI36
Celera1072,403,418 - 72,403,563RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,112,393 - 73,112,538UniSTS
GeneMap99-GB4 RH Map10391.88UniSTS
RH102206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,396,156 - 79,396,298UniSTSGRCh37
Build 361079,066,162 - 79,066,304RGDNCBI36
Celera1072,682,761 - 72,682,903RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,390,731 - 73,390,873UniSTS
GeneMap99-GB4 RH Map10388.77UniSTS
SHGC-78665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,951,121 - 78,951,220UniSTSGRCh37
Build 361078,621,127 - 78,621,226RGDNCBI36
Celera1072,236,980 - 72,237,079RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,946,534 - 72,946,633UniSTS
TNG Radiation Hybrid Map1039036.0UniSTS
SHGC-80677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,845,392 - 78,845,727UniSTSGRCh37
Build 361078,515,398 - 78,515,733RGDNCBI36
Celera1072,131,258 - 72,131,593RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,840,849 - 72,841,184UniSTS
TNG Radiation Hybrid Map1038648.0UniSTS
U09383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,637,472 - 78,637,578UniSTSGRCh37
Build 361078,307,478 - 78,307,584RGDNCBI36
Celera1071,922,294 - 71,922,400RGD
HuRef1072,632,406 - 72,632,512UniSTS
RH122872  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,292,052 - 79,292,358UniSTSGRCh37
Build 361078,962,058 - 78,962,364RGDNCBI36
Celera1072,578,666 - 72,578,972RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,286,702 - 73,287,008UniSTS
TNG Radiation Hybrid Map1039087.0UniSTS
D10S307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,892,076 - 78,892,276UniSTSGRCh37
Build 361078,562,082 - 78,562,282RGDNCBI36
Celera1072,177,969 - 72,178,169RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,887,520 - 72,887,720UniSTS
GDB:438010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,643,898 - 78,644,286UniSTSGRCh37
Build 361078,313,904 - 78,314,292RGDNCBI36
Celera1071,928,718 - 71,929,106RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,638,830 - 72,639,218UniSTS
SHGC-105266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,043,303 - 79,043,588UniSTSGRCh37
Build 361078,713,309 - 78,713,594RGDNCBI36
Celera1072,329,624 - 72,329,909RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,038,669 - 73,038,954UniSTS
TNG Radiation Hybrid Map1038959.0UniSTS
SHGC-105839  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,051,825 - 79,052,153UniSTSGRCh37
Build 361078,721,831 - 78,722,159RGDNCBI36
Celera1072,338,141 - 72,338,469RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,047,184 - 73,047,512UniSTS
TNG Radiation Hybrid Map1038952.0UniSTS
SHGC-132094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,643,949 - 78,644,242UniSTSGRCh37
Build 361078,313,955 - 78,314,248RGDNCBI36
Celera1071,928,769 - 71,929,062RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,638,881 - 72,639,174UniSTS
TNG Radiation Hybrid Map1038582.0UniSTS
SHGC-132140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,042,779 - 79,043,007UniSTSGRCh37
Build 361078,712,785 - 78,713,013RGDNCBI36
Celera1072,329,100 - 72,329,328RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,038,145 - 73,038,373UniSTS
TNG Radiation Hybrid Map1038949.0UniSTS
SHGC-132853  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,009,308 - 79,009,652UniSTSGRCh37
Build 361078,679,314 - 78,679,658RGDNCBI36
Celera1072,295,628 - 72,295,972RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,004,752 - 73,005,096UniSTS
TNG Radiation Hybrid Map1038982.0UniSTS
SHGC-142644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,265,622 - 79,265,907UniSTSGRCh37
Build 361078,935,628 - 78,935,913RGDNCBI36
Celera1072,551,933 - 72,552,218RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,259,945 - 73,260,230UniSTS
TNG Radiation Hybrid Map1038850.0UniSTS
SHGC-144741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,735,991 - 78,736,273UniSTSGRCh37
Build 361078,405,997 - 78,406,279RGDNCBI36
Celera1072,021,254 - 72,021,536RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,731,003 - 72,731,285UniSTS
TNG Radiation Hybrid Map1038612.0UniSTS
SHGC-144912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,097,597 - 79,097,914UniSTSGRCh37
Build 361078,767,603 - 78,767,920RGDNCBI36
Celera1072,383,914 - 72,384,231RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,092,935 - 73,093,252UniSTS
TNG Radiation Hybrid Map1038908.0UniSTS
SHGC-149064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,386,549 - 79,386,897UniSTSGRCh37
Build 361079,056,555 - 79,056,903RGDNCBI36
Celera1072,673,142 - 72,673,490RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,381,112 - 73,381,460UniSTS
TNG Radiation Hybrid Map1039100.0UniSTS
RH45858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,009,267 - 79,009,394UniSTSGRCh37
Build 361078,679,273 - 78,679,400RGDNCBI36
Celera1072,295,587 - 72,295,714RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,004,711 - 73,004,838UniSTS
GeneMap99-GB4 RH Map10388.77UniSTS
G17472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,082,124 - 79,082,422UniSTSGRCh37
Build 361078,752,130 - 78,752,428RGDNCBI36
Celera1072,368,436 - 72,368,734RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,077,479 - 73,077,777UniSTS
D10S2378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,042,879 - 79,043,010UniSTSGRCh37
Build 361078,712,885 - 78,713,016RGDNCBI36
Celera1072,329,200 - 72,329,331RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,038,245 - 73,038,376UniSTS
Stanford-G3 RH Map103636.0UniSTS
NCBI RH Map10948.0UniSTS
GeneMap99-G3 RH Map103612.0UniSTS
STS-U13913  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,646,826 - 78,646,980UniSTSGRCh37
Build 361078,316,832 - 78,316,986RGDNCBI36
Celera1071,931,646 - 71,931,800RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,641,758 - 72,641,912UniSTS
GeneMap99-GB4 RH Map10388.77UniSTS
D10S2291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,643,921 - 78,644,270UniSTSGRCh37
Build 361078,313,927 - 78,314,276RGDNCBI36
Celera1071,928,741 - 71,929,090RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,638,853 - 72,639,202UniSTS
Whitehead-YAC Contig Map10 UniSTS
GeneMap99-G3 RH Map103555.0UniSTS
G09279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,184,203 - 79,184,475UniSTSGRCh37
Build 361078,854,209 - 78,854,481RGDNCBI36
Celera1072,470,421 - 72,470,693RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,179,844 - 73,180,116UniSTS
WI-18797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,646,838 - 78,646,983UniSTSGRCh37
Build 361078,316,844 - 78,316,989RGDNCBI36
Celera1071,931,658 - 71,931,803RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,641,770 - 72,641,915UniSTS
GeneMap99-GB4 RH Map10388.77UniSTS
Whitehead-RH Map10464.5UniSTS
RH11276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,629,486 - 78,629,616UniSTSGRCh37
Build 361078,299,492 - 78,299,622RGDNCBI36
Celera1071,914,240 - 71,914,370RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,624,421 - 72,624,551UniSTS
GeneMap99-GB4 RH Map10388.74UniSTS
A003B45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,629,441 - 78,629,557UniSTSGRCh37
Build 361078,299,447 - 78,299,563RGDNCBI36
Celera1071,914,195 - 71,914,311RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,624,376 - 72,624,492UniSTS
GeneMap99-GB4 RH Map10388.77UniSTS
WI-15110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,393,881 - 79,394,015UniSTSGRCh37
Build 361079,063,887 - 79,064,021RGDNCBI36
Celera1072,680,474 - 72,680,608RGD
Cytogenetic Map10q22.3UniSTS
HuRef1073,388,444 - 73,388,578UniSTS
GeneMap99-GB4 RH Map10388.77UniSTS
Whitehead-RH Map10464.5UniSTS
NIB1917  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,629,389 - 78,629,495UniSTSGRCh37
Build 361078,299,395 - 78,299,501RGDNCBI36
Celera1071,914,143 - 71,914,249RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,624,324 - 72,624,430UniSTS
Whitehead-YAC Contig Map10 UniSTS
G10716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,646,468 - 78,646,710UniSTSGRCh37
Build 361078,316,474 - 78,316,716RGDNCBI36
Celera1071,931,288 - 71,931,530RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,641,400 - 72,641,642UniSTS
KCNMA1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,761,220 - 78,761,297UniSTSGRCh37
GRCh371078,869,938 - 78,870,070UniSTSGRCh37
Celera1072,155,801 - 72,155,933UniSTS
Celera1072,046,471 - 72,046,548UniSTS
HuRef1072,865,395 - 72,865,527UniSTS
HuRef1072,756,212 - 72,756,289UniSTS
D10S605  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2q35UniSTS
TNG Radiation Hybrid Map1038837.0UniSTS
Stanford-G3 RH Map103621.0UniSTS
NCBI RH Map10946.6UniSTS
GeneMap99-G3 RH Map103597.0UniSTS
KCNMA1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,761,220 - 78,761,297UniSTSGRCh37
GRCh371078,869,938 - 78,870,070UniSTSGRCh37
Celera1072,155,801 - 72,155,933UniSTS
Celera1072,046,471 - 72,046,548UniSTS
HuRef1072,865,395 - 72,865,527UniSTS
HuRef1072,756,212 - 72,756,289UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1511 1203 35 8 84 5 844 1002 550 73 377 76 3 25 800
Low 784 548 1293 519 1000 361 3114 759 3172 209 1003 1191 164 1 1096 1903 2 2
Below cutoff 68 1225 385 90 691 89 377 432 12 129 49 317 5 83 85 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001014797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001161352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001161353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007061964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB113382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB113575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB524033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC067745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF025999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF105372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF118141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF349445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL607069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL627447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL731556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL731560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL731575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY040849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY445624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ574058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U02632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U09384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U11058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U11717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U13913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U23767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000286627   ⟹   ENSP00000286627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,884,869 - 77,637,902 (-)Ensembl
RefSeq Acc Id: ENST00000286628   ⟹   ENSP00000286628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,884,882 - 77,637,808 (-)Ensembl
RefSeq Acc Id: ENST00000354353   ⟹   ENSP00000346321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,884,878 - 77,404,025 (-)Ensembl
RefSeq Acc Id: ENST00000372403   ⟹   ENSP00000361480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,739 - 77,637,447 (-)Ensembl
RefSeq Acc Id: ENST00000372408   ⟹   ENSP00000361485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,522 - 77,637,447 (-)Ensembl
RefSeq Acc Id: ENST00000372421   ⟹   ENSP00000361498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,611 - 77,637,563 (-)Ensembl
RefSeq Acc Id: ENST00000372437   ⟹   ENSP00000361514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,687 - 77,637,453 (-)Ensembl
RefSeq Acc Id: ENST00000372440   ⟹   ENSP00000361517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,725 - 77,637,775 (-)Ensembl
RefSeq Acc Id: ENST00000372443   ⟹   ENSP00000361520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,167 - 77,638,369 (-)Ensembl
RefSeq Acc Id: ENST00000404771   ⟹   ENSP00000385717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,725 - 77,637,775 (-)Ensembl
RefSeq Acc Id: ENST00000404857   ⟹   ENSP00000385806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,869 - 77,637,447 (-)Ensembl
RefSeq Acc Id: ENST00000406533   ⟹   ENSP00000385552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,884,878 - 77,404,025 (-)Ensembl
RefSeq Acc Id: ENST00000428546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1077,012,199 - 77,078,072 (-)Ensembl
RefSeq Acc Id: ENST00000434208   ⟹   ENSP00000402150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,884,116 - 77,637,642 (-)Ensembl
RefSeq Acc Id: ENST00000450795   ⟹   ENSP00000388370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,995,287 - 77,079,550 (-)Ensembl
RefSeq Acc Id: ENST00000457953   ⟹   ENSP00000396608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,725 - 77,637,766 (-)Ensembl
RefSeq Acc Id: ENST00000468471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,823 - 76,887,937 (-)Ensembl
RefSeq Acc Id: ENST00000475352   ⟹   ENSP00000491045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,973,993 - 77,019,063 (-)Ensembl
RefSeq Acc Id: ENST00000480683   ⟹   ENSP00000474686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1077,634,110 - 77,637,821 (-)Ensembl
RefSeq Acc Id: ENST00000481070   ⟹   ENSP00000475086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1077,636,199 - 77,637,789 (-)Ensembl
RefSeq Acc Id: ENST00000484343   ⟹   ENSP00000492283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1077,071,226 - 77,079,550 (-)Ensembl
RefSeq Acc Id: ENST00000484507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,970,028 - 77,079,712 (-)Ensembl
RefSeq Acc Id: ENST00000604624   ⟹   ENSP00000473714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,869,601 - 77,403,984 (-)Ensembl
RefSeq Acc Id: ENST00000618048   ⟹   ENSP00000482747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1077,636,199 - 77,637,725 (-)Ensembl
RefSeq Acc Id: ENST00000626620   ⟹   ENSP00000485867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,887,266 - 77,637,642 (-)Ensembl
RefSeq Acc Id: ENST00000637862   ⟹   ENSP00000490881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,970,037 - 77,140,768 (-)Ensembl
RefSeq Acc Id: ENST00000638203   ⟹   ENSP00000491123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,725 - 77,637,775 (-)Ensembl
RefSeq Acc Id: ENST00000638223   ⟹   ENSP00000492492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,168 - 77,637,642 (-)Ensembl
RefSeq Acc Id: ENST00000638249   ⟹   ENSP00000492837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1077,011,994 - 77,637,335 (-)Ensembl
RefSeq Acc Id: ENST00000638252   ⟹   ENSP00000492178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,869 - 77,637,447 (-)Ensembl
RefSeq Acc Id: ENST00000638283   ⟹   ENSP00000491300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,884,924 - 77,404,023 (-)Ensembl
RefSeq Acc Id: ENST00000638306   ⟹   ENSP00000491008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,725 - 77,637,775 (-)Ensembl
RefSeq Acc Id: ENST00000638351   ⟹   ENSP00000491156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,725 - 77,637,775 (-)Ensembl
RefSeq Acc Id: ENST00000638361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,949,162 - 76,973,202 (-)Ensembl
RefSeq Acc Id: ENST00000638370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,901,300 - 77,019,023 (-)Ensembl
RefSeq Acc Id: ENST00000638506   ⟹   ENSP00000492740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1077,039,123 - 77,637,483 (-)Ensembl
RefSeq Acc Id: ENST00000638512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,601 - 76,887,910 (-)Ensembl
RefSeq Acc Id: ENST00000638514   ⟹   ENSP00000491840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,887,342 - 77,637,760 (-)Ensembl
RefSeq Acc Id: ENST00000638531   ⟹   ENSP00000491374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1077,073,236 - 77,090,722 (-)Ensembl
RefSeq Acc Id: ENST00000638575   ⟹   ENSP00000492049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,887,266 - 77,637,642 (-)Ensembl
RefSeq Acc Id: ENST00000638606   ⟹   ENSP00000491981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,725 - 77,637,775 (-)Ensembl
RefSeq Acc Id: ENST00000638632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,885,262 - 77,403,913 (-)Ensembl
RefSeq Acc Id: ENST00000638751   ⟹   ENSP00000492172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,885,289 - 77,404,023 (-)Ensembl
RefSeq Acc Id: ENST00000638754   ⟹   ENSP00000491166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,885,260 - 77,404,023 (-)Ensembl
RefSeq Acc Id: ENST00000638759   ⟹   ENSP00000492632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,887,266 - 77,637,642 (-)Ensembl
RefSeq Acc Id: ENST00000638848   ⟹   ENSP00000492414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,246 - 77,637,722 (-)Ensembl
RefSeq Acc Id: ENST00000638895   ⟹   ENSP00000491207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,725 - 77,637,598 (-)Ensembl
RefSeq Acc Id: ENST00000638991   ⟹   ENSP00000490978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,869,602 - 77,637,819 (-)Ensembl
RefSeq Acc Id: ENST00000638999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,887,342 - 77,121,020 (-)Ensembl
RefSeq Acc Id: ENST00000639069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,250 - 77,309,643 (-)Ensembl
RefSeq Acc Id: ENST00000639090   ⟹   ENSP00000491673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,246 - 77,637,775 (-)Ensembl
RefSeq Acc Id: ENST00000639120   ⟹   ENSP00000492236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1077,063,674 - 77,637,731 (-)Ensembl
RefSeq Acc Id: ENST00000639204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1077,249,530 - 77,309,618 (-)Ensembl
RefSeq Acc Id: ENST00000639205   ⟹   ENSP00000492718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,872,904 - 77,637,447 (-)Ensembl
RefSeq Acc Id: ENST00000639282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1077,249,431 - 77,498,970 (-)Ensembl
RefSeq Acc Id: ENST00000639321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,887,412 - 76,970,999 (-)Ensembl
RefSeq Acc Id: ENST00000639344   ⟹   ENSP00000492559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,223 - 77,637,494 (-)Ensembl
RefSeq Acc Id: ENST00000639370   ⟹   ENSP00000491277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,884,934 - 77,637,568 (-)Ensembl
RefSeq Acc Id: ENST00000639406   ⟹   ENSP00000491732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,885,406 - 77,637,722 (-)Ensembl
RefSeq Acc Id: ENST00000639483   ⟹   ENSP00000492406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,598 - 77,637,947 (-)Ensembl
RefSeq Acc Id: ENST00000639486   ⟹   ENSP00000492005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,872,904 - 77,637,993 (-)Ensembl
RefSeq Acc Id: ENST00000639489   ⟹   ENSP00000491927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,246 - 77,637,775 (-)Ensembl
RefSeq Acc Id: ENST00000639498   ⟹   ENSP00000492835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,876,619 - 77,637,447 (-)Ensembl
RefSeq Acc Id: ENST00000639544   ⟹   ENSP00000492075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,869 - 77,637,642 (-)Ensembl
RefSeq Acc Id: ENST00000639591   ⟹   ENSP00000492793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,725 - 77,637,775 (-)Ensembl
RefSeq Acc Id: ENST00000639601   ⟹   ENSP00000492806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,869,602 - 77,637,758 (-)Ensembl
RefSeq Acc Id: ENST00000639657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,420 - 77,021,106 (-)Ensembl
RefSeq Acc Id: ENST00000639691   ⟹   ENSP00000491040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,600 - 77,183,479 (-)Ensembl
RefSeq Acc Id: ENST00000639716   ⟹   ENSP00000491131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,885,204 - 77,039,538 (-)Ensembl
RefSeq Acc Id: ENST00000639730   ⟹   ENSP00000492519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,884,934 - 77,184,875 (-)Ensembl
RefSeq Acc Id: ENST00000639823   ⟹   ENSP00000490982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,887,069 - 77,637,447 (-)Ensembl
RefSeq Acc Id: ENST00000639851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,761 - 77,350,761 (-)Ensembl
RefSeq Acc Id: ENST00000639913   ⟹   ENSP00000492241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,869,602 - 77,637,819 (-)Ensembl
RefSeq Acc Id: ENST00000639968   ⟹   ENSP00000491723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,726 - 77,637,775 (-)Ensembl
RefSeq Acc Id: ENST00000639995   ⟹   ENSP00000491902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,598 - 77,637,462 (-)Ensembl
RefSeq Acc Id: ENST00000640029   ⟹   ENSP00000491463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,869 - 77,637,447 (-)Ensembl
RefSeq Acc Id: ENST00000640093   ⟹   ENSP00000492224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,869 - 77,637,447 (-)Ensembl
RefSeq Acc Id: ENST00000640141   ⟹   ENSP00000491418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,885,240 - 77,637,775 (-)Ensembl
RefSeq Acc Id: ENST00000640182   ⟹   ENSP00000492510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,725 - 77,637,775 (-)Ensembl
RefSeq Acc Id: ENST00000640311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1077,183,473 - 77,498,970 (-)Ensembl
RefSeq Acc Id: ENST00000640353   ⟹   ENSP00000492153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,887,344 - 77,404,021 (-)Ensembl
RefSeq Acc Id: ENST00000640386   ⟹   ENSP00000491313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1077,012,027 - 77,404,023 (-)Ensembl
RefSeq Acc Id: ENST00000640523   ⟹   ENSP00000491795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,876,646 - 77,638,115 (-)Ensembl
RefSeq Acc Id: ENST00000640570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,620 - 77,309,621 (-)Ensembl
RefSeq Acc Id: ENST00000640605   ⟹   ENSP00000491435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,725 - 77,637,775 (-)Ensembl
RefSeq Acc Id: ENST00000640626   ⟹   ENSP00000491545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,739 - 77,637,447 (-)Ensembl
RefSeq Acc Id: ENST00000640632   ⟹   ENSP00000492854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1077,012,198 - 77,092,170 (-)Ensembl
RefSeq Acc Id: ENST00000640773   ⟹   ENSP00000491173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,887,344 - 77,637,568 (-)Ensembl
RefSeq Acc Id: ENST00000640807   ⟹   ENSP00000491555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,869 - 77,637,642 (-)Ensembl
RefSeq Acc Id: ENST00000640824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1077,183,477 - 77,350,761 (-)Ensembl
RefSeq Acc Id: ENST00000640834   ⟹   ENSP00000491920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,887,235 - 77,637,738 (-)Ensembl
RefSeq Acc Id: ENST00000640934   ⟹   ENSP00000491539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,877,869 - 77,637,447 (-)Ensembl
RefSeq Acc Id: ENST00000640969   ⟹   ENSP00000492200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,885,265 - 77,637,806 (-)Ensembl
RefSeq Acc Id: ENST00000674918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1077,113,737 - 77,142,352 (-)Ensembl
RefSeq Acc Id: ENST00000707137   ⟹   ENSP00000516759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,869,602 - 77,404,025 (-)Ensembl
RefSeq Acc Id: ENST00000707138   ⟹   ENSP00000516760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,970,028 - 77,184,910 (-)Ensembl
RefSeq Acc Id: NM_001014797   ⟹   NP_001014797
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
GRCh371078,629,359 - 79,397,577 (-)ENTREZGENE
GRCh371078,629,359 - 79,397,577 (-)NCBI
Build 361078,299,366 - 79,067,583 (-)NCBI Archive
HuRef1072,624,294 - 73,391,824 (-)ENTREZGENE
CHM1_11078,911,952 - 79,680,009 (-)NCBI
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001161352   ⟹   NP_001154824
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,637,808 (-)NCBI
GRCh371078,629,359 - 79,397,577 (-)NCBI
HuRef1072,624,294 - 73,391,824 (-)ENTREZGENE
CHM1_11078,927,227 - 79,680,009 (-)NCBI
T2T-CHM13v2.01077,753,603 - 78,506,527 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001161353   ⟹   NP_001154825
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,637,808 (-)NCBI
GRCh371078,629,359 - 79,397,577 (-)NCBI
HuRef1072,624,294 - 73,391,824 (-)ENTREZGENE
CHM1_11078,927,227 - 79,680,009 (-)NCBI
T2T-CHM13v2.01077,753,603 - 78,506,527 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271518   ⟹   NP_001258447
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
GRCh371078,629,359 - 79,397,577 (-)NCBI
HuRef1072,624,294 - 73,391,824 (-)NCBI
CHM1_11078,911,952 - 79,680,009 (-)NCBI
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271519   ⟹   NP_001258448
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,637,808 (-)NCBI
GRCh371078,629,359 - 79,397,577 (-)NCBI
HuRef1072,624,294 - 73,391,824 (-)NCBI
CHM1_11078,927,227 - 79,680,009 (-)NCBI
T2T-CHM13v2.01077,753,603 - 78,506,527 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271520   ⟹   NP_001258449
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381077,636,199 - 77,637,808 (-)NCBI
GRCh371078,629,359 - 79,397,577 (-)NCBI
HuRef1072,624,294 - 73,391,824 (-)NCBI
CHM1_11079,678,383 - 79,680,009 (-)NCBI
T2T-CHM13v2.01078,504,912 - 78,506,527 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271521   ⟹   NP_001258450
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381077,636,199 - 77,637,808 (-)NCBI
GRCh371078,629,359 - 79,397,577 (-)NCBI
HuRef1072,624,294 - 73,391,824 (-)NCBI
CHM1_11079,678,383 - 79,680,009 (-)NCBI
T2T-CHM13v2.01078,504,912 - 78,506,527 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271522   ⟹   NP_001258451
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381077,634,110 - 77,637,808 (-)NCBI
GRCh371078,629,359 - 79,397,577 (-)NCBI
HuRef1072,624,294 - 73,391,824 (-)NCBI
CHM1_11079,678,383 - 79,680,009 (-)NCBI
T2T-CHM13v2.01078,502,811 - 78,506,527 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322829   ⟹   NP_001309758
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
CHM1_11078,911,952 - 79,680,009 (-)NCBI
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322830   ⟹   NP_001309759
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
CHM1_11078,911,952 - 79,680,009 (-)NCBI
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322832   ⟹   NP_001309761
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
CHM1_11078,911,952 - 79,680,009 (-)NCBI
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322835   ⟹   NP_001309764
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
CHM1_11078,911,952 - 79,680,009 (-)NCBI
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322836   ⟹   NP_001309765
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,637,808 (-)NCBI
CHM1_11078,927,227 - 79,680,009 (-)NCBI
T2T-CHM13v2.01077,753,603 - 78,506,527 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322837   ⟹   NP_001309766
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,637,808 (-)NCBI
CHM1_11078,927,227 - 79,680,009 (-)NCBI
T2T-CHM13v2.01077,753,603 - 78,506,527 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322838   ⟹   NP_001309767
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,350,761 (-)NCBI
CHM1_11078,911,952 - 79,392,954 (-)NCBI
T2T-CHM13v2.01077,738,326 - 78,219,135 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322839   ⟹   NP_001309768
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381077,636,199 - 77,637,808 (-)NCBI
CHM1_11079,678,383 - 79,680,009 (-)NCBI
T2T-CHM13v2.01078,504,912 - 78,506,527 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001410940   ⟹   NP_001397869
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: NM_002247   ⟹   NP_002238
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,637,808 (-)NCBI
GRCh371078,629,359 - 79,397,577 (-)ENTREZGENE
GRCh371078,629,359 - 79,397,577 (-)NCBI
Build 361078,314,641 - 79,067,583 (-)NCBI Archive
HuRef1072,624,294 - 73,391,824 (-)ENTREZGENE
CHM1_11078,927,227 - 79,680,009 (-)NCBI
T2T-CHM13v2.01077,753,603 - 78,506,527 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269776   ⟹   XP_005269833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269778   ⟹   XP_005269835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
GRCh371078,629,359 - 79,397,577 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269781   ⟹   XP_005269838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
GRCh371078,629,359 - 79,397,577 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269787   ⟹   XP_005269844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269789   ⟹   XP_005269846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
GRCh371078,629,359 - 79,397,577 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269792   ⟹   XP_005269849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006717826   ⟹   XP_006717889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539773   ⟹   XP_011538075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539774   ⟹   XP_011538076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539775   ⟹   XP_011538077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539777   ⟹   XP_011538079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539778   ⟹   XP_011538080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539780   ⟹   XP_011538082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539781   ⟹   XP_011538083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539782   ⟹   XP_011538084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539783   ⟹   XP_011538085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539784   ⟹   XP_011538086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381077,012,199 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539785   ⟹   XP_011538087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016207   ⟹   XP_016871696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016208   ⟹   XP_016871697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016209   ⟹   XP_016871698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016210   ⟹   XP_016871699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016211   ⟹   XP_016871700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016213   ⟹   XP_016871702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016214   ⟹   XP_016871703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016217   ⟹   XP_016871706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016219   ⟹   XP_016871708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381077,002,452 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016222   ⟹   XP_016871711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016223   ⟹   XP_016871712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,217,559 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447984   ⟹   XP_024303752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447985   ⟹   XP_024303753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447986   ⟹   XP_024303754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,431,680 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447987   ⟹   XP_024303755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447988   ⟹   XP_024303756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447989   ⟹   XP_024303757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447990   ⟹   XP_024303758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047425195   ⟹   XP_047281151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,637,808 (-)NCBI
RefSeq Acc Id: XM_047425196   ⟹   XP_047281152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
RefSeq Acc Id: XM_047425197   ⟹   XP_047281153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,637,808 (-)NCBI
RefSeq Acc Id: XM_047425199   ⟹   XP_047281155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,869,602 - 77,637,808 (-)NCBI
RefSeq Acc Id: XM_047425200   ⟹   XP_047281156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,884,882 - 77,319,696 (-)NCBI
RefSeq Acc Id: XM_047425201   ⟹   XP_047281157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381077,012,199 - 77,637,808 (-)NCBI
RefSeq Acc Id: XM_054365803   ⟹   XP_054221778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365804   ⟹   XP_054221779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365805   ⟹   XP_054221780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,753,603 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365806   ⟹   XP_054221781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365807   ⟹   XP_054221782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365808   ⟹   XP_054221783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,753,603 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365809   ⟹   XP_054221784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365810   ⟹   XP_054221785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,753,603 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365811   ⟹   XP_054221786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,753,603 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365812   ⟹   XP_054221787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365813   ⟹   XP_054221788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,753,603 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365814   ⟹   XP_054221789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365815   ⟹   XP_054221790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365816   ⟹   XP_054221791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,753,603 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365817   ⟹   XP_054221792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365818   ⟹   XP_054221793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365819   ⟹   XP_054221794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365820   ⟹   XP_054221795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365821   ⟹   XP_054221796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,753,603 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365822   ⟹   XP_054221797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365823   ⟹   XP_054221798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,753,603 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365824   ⟹   XP_054221799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365825   ⟹   XP_054221800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,753,603 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365826   ⟹   XP_054221801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365827   ⟹   XP_054221802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365828   ⟹   XP_054221803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365829   ⟹   XP_054221804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,753,603 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365830   ⟹   XP_054221805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365831   ⟹   XP_054221806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,753,603 - 78,188,071 (-)NCBI
RefSeq Acc Id: XM_054365832   ⟹   XP_054221807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,753,603 - 78,287,322 (-)NCBI
RefSeq Acc Id: XM_054365833   ⟹   XP_054221808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,871,195 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365834   ⟹   XP_054221809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,880,715 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365835   ⟹   XP_054221810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,880,715 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365836   ⟹   XP_054221811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365837   ⟹   XP_054221812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365838   ⟹   XP_054221813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365839   ⟹   XP_054221814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365840   ⟹   XP_054221815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365841   ⟹   XP_054221816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365842   ⟹   XP_054221817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365843   ⟹   XP_054221818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,506,527 (-)NCBI
RefSeq Acc Id: XM_054365844   ⟹   XP_054221819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01077,738,326 - 78,085,938 (-)NCBI
RefSeq Acc Id: XR_007061964
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381077,249,430 - 77,637,808 (-)NCBI
RefSeq Acc Id: XR_008488214
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01078,119,583 - 78,506,527 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001014797 (Get FASTA)   NCBI Sequence Viewer  
  NP_001154824 (Get FASTA)   NCBI Sequence Viewer  
  NP_001154825 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258447 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258448 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258449 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258450 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258451 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309758 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309759 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309761 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309764 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309765 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309766 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309767 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309768 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397869 (Get FASTA)   NCBI Sequence Viewer  
  NP_002238 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269833 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269835 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269838 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269844 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269846 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269849 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717889 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538075 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538076 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538077 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538079 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538080 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538082 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538083 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538084 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538085 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538086 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538087 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871696 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871697 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871698 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871699 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871700 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871702 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871703 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871706 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871708 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871711 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871712 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303752 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303753 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303754 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303755 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303756 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303757 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303758 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281151 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281152 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281153 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281155 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281156 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281157 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221778 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221779 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221780 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221781 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221782 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221783 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221784 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221785 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221786 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221787 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221788 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221789 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221790 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221791 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221792 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221793 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221794 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221795 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221796 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221797 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221798 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221799 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221800 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221801 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221802 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221803 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221804 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221805 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221806 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221807 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221808 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221809 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221810 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221811 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221812 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221813 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221814 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221815 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221816 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221817 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221818 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221819 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA50173 (Get FASTA)   NCBI Sequence Viewer  
  AAA50216 (Get FASTA)   NCBI Sequence Viewer  
  AAA85104 (Get FASTA)   NCBI Sequence Viewer  
  AAA92290 (Get FASTA)   NCBI Sequence Viewer  
  AAB65837 (Get FASTA)   NCBI Sequence Viewer  
  AAB88802 (Get FASTA)   NCBI Sequence Viewer  
  AAC50353 (Get FASTA)   NCBI Sequence Viewer  
  AAD21968 (Get FASTA)   NCBI Sequence Viewer  
  AAD31173 (Get FASTA)   NCBI Sequence Viewer  
  AAH62659 (Get FASTA)   NCBI Sequence Viewer  
  AAI37116 (Get FASTA)   NCBI Sequence Viewer  
  AAI37138 (Get FASTA)   NCBI Sequence Viewer  
  AAI44497 (Get FASTA)   NCBI Sequence Viewer  
  AAK30158 (Get FASTA)   NCBI Sequence Viewer  
  AAK91504 (Get FASTA)   NCBI Sequence Viewer  
  AAS01054 (Get FASTA)   NCBI Sequence Viewer  
  BAD06365 (Get FASTA)   NCBI Sequence Viewer  
  BAD06397 (Get FASTA)   NCBI Sequence Viewer  
  BAD92725 (Get FASTA)   NCBI Sequence Viewer  
  BAJ07308 (Get FASTA)   NCBI Sequence Viewer  
  CAH10480 (Get FASTA)   NCBI Sequence Viewer  
  EAW54597 (Get FASTA)   NCBI Sequence Viewer  
  EAW54598 (Get FASTA)   NCBI Sequence Viewer  
  EAW54599 (Get FASTA)   NCBI Sequence Viewer  
  EAW54600 (Get FASTA)   NCBI Sequence Viewer  
  EAW54601 (Get FASTA)   NCBI Sequence Viewer  
  EAW54602 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000286627
  ENSP00000286627.5
  ENSP00000286628
  ENSP00000286628.8
  ENSP00000346321
  ENSP00000346321.6
  ENSP00000361480
  ENSP00000361480.4
  ENSP00000361485.3
  ENSP00000361498
  ENSP00000361498.6
  ENSP00000361514.2
  ENSP00000361517.2
  ENSP00000361520
  ENSP00000361520.2
  ENSP00000385552.4
  ENSP00000385717
  ENSP00000385717.3
  ENSP00000385806
  ENSP00000385806.3
  ENSP00000388370.2
  ENSP00000396608
  ENSP00000396608.2
  ENSP00000402150.2
  ENSP00000473714
  ENSP00000473714.2
  ENSP00000474686
  ENSP00000474686.1
  ENSP00000475086
  ENSP00000475086.1
  ENSP00000482747
  ENSP00000482747.1
  ENSP00000485867
  ENSP00000485867.1
  ENSP00000490881.2
  ENSP00000490978
  ENSP00000490978.1
  ENSP00000490982
  ENSP00000490982.1
  ENSP00000491008
  ENSP00000491008.1
  ENSP00000491040.1
  ENSP00000491045.1
  ENSP00000491123
  ENSP00000491123.1
  ENSP00000491131.1
  ENSP00000491156.1
  ENSP00000491166
  ENSP00000491166.1
  ENSP00000491173.1
  ENSP00000491207.1
  ENSP00000491277.1
  ENSP00000491300
  ENSP00000491300.1
  ENSP00000491313.1
  ENSP00000491374.1
  ENSP00000491418
  ENSP00000491418.1
  ENSP00000491435.1
  ENSP00000491463.1
  ENSP00000491539
  ENSP00000491539.1
  ENSP00000491545.1
  ENSP00000491555
  ENSP00000491555.1
  ENSP00000491673
  ENSP00000491673.1
  ENSP00000491723.1
  ENSP00000491732
  ENSP00000491732.1
  ENSP00000491795.1
  ENSP00000491840
  ENSP00000491840.1
  ENSP00000491902.1
  ENSP00000491920.1
  ENSP00000491927
  ENSP00000491927.1
  ENSP00000491981
  ENSP00000491981.1
  ENSP00000492005
  ENSP00000492005.1
  ENSP00000492049.1
  ENSP00000492075
  ENSP00000492075.1
  ENSP00000492153.1
  ENSP00000492172.1
  ENSP00000492178.1
  ENSP00000492200.1
  ENSP00000492224.1
  ENSP00000492236
  ENSP00000492236.1
  ENSP00000492241.1
  ENSP00000492283.1
  ENSP00000492406.1
  ENSP00000492414
  ENSP00000492414.1
  ENSP00000492492
  ENSP00000492492.1
  ENSP00000492510
  ENSP00000492510.1
  ENSP00000492519.1
  ENSP00000492559.1
  ENSP00000492632.1
  ENSP00000492718
  ENSP00000492718.1
  ENSP00000492740.1
  ENSP00000492793.1
  ENSP00000492806
  ENSP00000492806.1
  ENSP00000492835.1
  ENSP00000492837.1
  ENSP00000492854.1
  ENSP00000516759.1
  ENSP00000516760.1
GenBank Protein Q12791 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001014797   ⟸   NM_001014797
- Peptide Label: isoform a
- UniProtKB: A0A1W2PNH9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002238   ⟸   NM_002247
- Peptide Label: isoform b
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001154825   ⟸   NM_001161353
- Peptide Label: isoform d
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001154824   ⟸   NM_001161352
- Peptide Label: isoform c
- UniProtKB: Q9UCX0 (UniProtKB/Swiss-Prot),   Q9UBB0 (UniProtKB/Swiss-Prot),   Q96LG8 (UniProtKB/Swiss-Prot),   Q5SQR9 (UniProtKB/Swiss-Prot),   Q5JQ23 (UniProtKB/Swiss-Prot),   Q13150 (UniProtKB/Swiss-Prot),   Q12960 (UniProtKB/Swiss-Prot),   Q12921 (UniProtKB/Swiss-Prot),   Q12917 (UniProtKB/Swiss-Prot),   Q12886 (UniProtKB/Swiss-Prot),   F8WA96 (UniProtKB/Swiss-Prot),   Q9UQK6 (UniProtKB/Swiss-Prot),   Q12791 (UniProtKB/Swiss-Prot),   A0A1W2PQU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258447   ⟸   NM_001271518
- Peptide Label: isoform e
- UniProtKB: D5MRH1 (UniProtKB/TrEMBL),   A0A1W2PNH9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258448   ⟸   NM_001271519
- Peptide Label: isoform f
- UniProtKB: B7ZMF5 (UniProtKB/TrEMBL),   A0A1W2PQU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258451   ⟸   NM_001271522
- Peptide Label: isoform short3
- UniProtKB: Q12791 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258450   ⟸   NM_001271521
- Peptide Label: isoform short2
- UniProtKB: S4R453 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258449   ⟸   NM_001271520
- Peptide Label: isoform short1
- UniProtKB: A0A087WZL8 (UniProtKB/TrEMBL),   Q6AI34 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269844   ⟸   XM_005269787
- Peptide Label: isoform X36
- UniProtKB: A0A1W2PPY5 (UniProtKB/TrEMBL),   A0A0A0MRR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269833   ⟸   XM_005269776
- Peptide Label: isoform X34
- UniProtKB: A0A0A0MRR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269849   ⟸   XM_005269792
- Peptide Label: isoform X25
- UniProtKB: A0A1W2PNH9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269838   ⟸   XM_005269781
- Peptide Label: isoform X17
- UniProtKB: A0A1W2PR62 (UniProtKB/TrEMBL),   A0A1W2PNH9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269846   ⟸   XM_005269789
- Peptide Label: isoform X24
- UniProtKB: Q5SVJ7 (UniProtKB/TrEMBL),   A0A1W2PRG5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269835   ⟸   XM_005269778
- Peptide Label: isoform X16
- UniProtKB: A0A1W2PRN5 (UniProtKB/TrEMBL),   A0A1W2PPX7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006717889   ⟸   XM_006717826
- Peptide Label: isoform X27
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538087   ⟸   XM_011539785
- Peptide Label: isoform X37
- UniProtKB: H0Y382 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538082   ⟸   XM_011539780
- Peptide Label: isoform X15
- UniProtKB: A0A1W2PNH9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538077   ⟸   XM_011539775
- Peptide Label: isoform X7
- UniProtKB: A0A1W2PNH9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538083   ⟸   XM_011539781
- Peptide Label: isoform X20
- UniProtKB: A0A1W2PNH9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538075   ⟸   XM_011539773
- Peptide Label: isoform X4
- UniProtKB: A0A1W2PNH9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538080   ⟸   XM_011539778
- Peptide Label: isoform X9
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538085   ⟸   XM_011539783
- Peptide Label: isoform X23
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538079   ⟸   XM_011539777
- Peptide Label: isoform X8
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538084   ⟸   XM_011539782
- Peptide Label: isoform X21
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538076   ⟸   XM_011539774
- Peptide Label: isoform X6
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538086   ⟸   XM_011539784
- Peptide Label: isoform X32
- Sequence:
RefSeq Acc Id: NP_001309761   ⟸   NM_001322832
- Peptide Label: isoform i
- UniProtKB: A0A1W2PQK5 (UniProtKB/TrEMBL),   H0Y382 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309758   ⟸   NM_001322829
- Peptide Label: isoform g
- UniProtKB: A0A1W2PPX7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309764   ⟸   NM_001322835
- Peptide Label: isoform j
- UniProtKB: H0Y382 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309759   ⟸   NM_001322830
- Peptide Label: isoform h
- UniProtKB: A0A1W2PR56 (UniProtKB/TrEMBL),   A0A1W2PRG5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309767   ⟸   NM_001322838
- Peptide Label: isoform m
- UniProtKB: A0A0A0MRC3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309765   ⟸   NM_001322836
- Peptide Label: isoform k
- UniProtKB: A0A1W2PP94 (UniProtKB/TrEMBL),   A0A1W2PQU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309766   ⟸   NM_001322837
- Peptide Label: isoform l
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309768   ⟸   NM_001322839
- Peptide Label: isoform short4
- Sequence:
RefSeq Acc Id: XP_016871702   ⟸   XM_017016213
- Peptide Label: isoform X13
- UniProtKB: A0A1W2PQ93 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871700   ⟸   XM_017016211
- Peptide Label: isoform X10
- UniProtKB: A0A1W2PQ93 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871699   ⟸   XM_017016210
- Peptide Label: isoform X5
- UniProtKB: A0A1W2PPX7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871697   ⟸   XM_017016208
- Peptide Label: isoform X2
- UniProtKB: A0A1W2PPX7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871696   ⟸   XM_017016207
- Peptide Label: isoform X1
- UniProtKB: A0A1W2PRG5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871706   ⟸   XM_017016217
- Peptide Label: isoform X22
- UniProtKB: A0A1W2PQ93 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871712   ⟸   XM_017016223
- Peptide Label: isoform X42
- UniProtKB: A0A0A0MRC3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871711   ⟸   XM_017016222
- Peptide Label: isoform X41
- UniProtKB: A0A1W2PNQ3 (UniProtKB/TrEMBL),   H0Y382 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871703   ⟸   XM_017016214
- Peptide Label: isoform X14
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871698   ⟸   XM_017016209
- Peptide Label: isoform X3
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871708   ⟸   XM_017016219
- Peptide Label: isoform X31
- Sequence:
RefSeq Acc Id: XP_024303758   ⟸   XM_024447990
- Peptide Label: isoform X40
- UniProtKB: A0A1W2PNW6 (UniProtKB/TrEMBL),   A0A1W2PNY9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303757   ⟸   XM_024447989
- Peptide Label: isoform X39
- UniProtKB: A0A1W2PQA0 (UniProtKB/TrEMBL),   A0A1W2PNY9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303752   ⟸   XM_024447984
- Peptide Label: isoform X18
- UniProtKB: Q5SVJ9 (UniProtKB/TrEMBL),   A0A1W2PPX7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303755   ⟸   XM_024447987
- Peptide Label: isoform X35
- UniProtKB: Q5SVJ8 (UniProtKB/TrEMBL),   A0A1W2PRV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303753   ⟸   XM_024447985
- Peptide Label: isoform X28
- UniProtKB: A0A1W2PQ61 (UniProtKB/TrEMBL),   H0Y382 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303756   ⟸   XM_024447988
- Peptide Label: isoform X38
- UniProtKB: A0A1W2PRB0 (UniProtKB/TrEMBL),   A0A1W2PPZ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303754   ⟸   XM_024447986
- Peptide Label: isoform X29
- UniProtKB: J3KQ16 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000361498   ⟸   ENST00000372421
RefSeq Acc Id: ENSP00000361514   ⟸   ENST00000372437
RefSeq Acc Id: ENSP00000361517   ⟸   ENST00000372440
RefSeq Acc Id: ENSP00000361520   ⟸   ENST00000372443
RefSeq Acc Id: ENSP00000361480   ⟸   ENST00000372403
RefSeq Acc Id: ENSP00000361485   ⟸   ENST00000372408
RefSeq Acc Id: ENSP00000388370   ⟸   ENST00000450795
RefSeq Acc Id: ENSP00000490881   ⟸   ENST00000637862
RefSeq Acc Id: ENSP00000492414   ⟸   ENST00000638848
RefSeq Acc Id: ENSP00000491207   ⟸   ENST00000638895
RefSeq Acc Id: ENSP00000491166   ⟸   ENST00000638754
RefSeq Acc Id: ENSP00000492632   ⟸   ENST00000638759
RefSeq Acc Id: ENSP00000492172   ⟸   ENST00000638751
RefSeq Acc Id: ENSP00000491981   ⟸   ENST00000638606
RefSeq Acc Id: ENSP00000491374   ⟸   ENST00000638531
RefSeq Acc Id: ENSP00000491840   ⟸   ENST00000638514
RefSeq Acc Id: ENSP00000492740   ⟸   ENST00000638506
RefSeq Acc Id: ENSP00000492049   ⟸   ENST00000638575
RefSeq Acc Id: ENSP00000490978   ⟸   ENST00000638991
RefSeq Acc Id: ENSP00000491156   ⟸   ENST00000638351
RefSeq Acc Id: ENSP00000491008   ⟸   ENST00000638306
RefSeq Acc Id: ENSP00000492837   ⟸   ENST00000638249
RefSeq Acc Id: ENSP00000492178   ⟸   ENST00000638252
RefSeq Acc Id: ENSP00000492492   ⟸   ENST00000638223
RefSeq Acc Id: ENSP00000491300   ⟸   ENST00000638283
RefSeq Acc Id: ENSP00000491123   ⟸   ENST00000638203
RefSeq Acc Id: ENSP00000492241   ⟸   ENST00000639913
RefSeq Acc Id: ENSP00000491723   ⟸   ENST00000639968
RefSeq Acc Id: ENSP00000491902   ⟸   ENST00000639995
RefSeq Acc Id: ENSP00000490982   ⟸   ENST00000639823
RefSeq Acc Id: ENSP00000492718   ⟸   ENST00000639205
RefSeq Acc Id: ENSP00000492236   ⟸   ENST00000639120
RefSeq Acc Id: ENSP00000491673   ⟸   ENST00000639090
RefSeq Acc Id: ENSP00000492519   ⟸   ENST00000639730
RefSeq Acc Id: ENSP00000491131   ⟸   ENST00000639716
RefSeq Acc Id: ENSP00000491040   ⟸   ENST00000639691
RefSeq Acc Id: ENSP00000492806   ⟸   ENST00000639601
RefSeq Acc Id: ENSP00000492793   ⟸   ENST00000639591
RefSeq Acc Id: ENSP00000492075   ⟸   ENST00000639544
RefSeq Acc Id: ENSP00000492835   ⟸   ENST00000639498
RefSeq Acc Id: ENSP00000492406   ⟸   ENST00000639483
RefSeq Acc Id: ENSP00000491927   ⟸   ENST00000639489
RefSeq Acc Id: ENSP00000492005   ⟸   ENST00000639486
RefSeq Acc Id: ENSP00000491732   ⟸   ENST00000639406
RefSeq Acc Id: ENSP00000492559   ⟸   ENST00000639344
RefSeq Acc Id: ENSP00000491277   ⟸   ENST00000639370
RefSeq Acc Id: ENSP00000485867   ⟸   ENST00000626620
RefSeq Acc Id: ENSP00000474686   ⟸   ENST00000480683
RefSeq Acc Id: ENSP00000475086   ⟸   ENST00000481070
RefSeq Acc Id: ENSP00000396608   ⟸   ENST00000457953
RefSeq Acc Id: ENSP00000385717   ⟸   ENST00000404771
RefSeq Acc Id: ENSP00000385806   ⟸   ENST00000404857
RefSeq Acc Id: ENSP00000286627   ⟸   ENST00000286627
RefSeq Acc Id: ENSP00000286628   ⟸   ENST00000286628
RefSeq Acc Id: ENSP00000492200   ⟸   ENST00000640969
RefSeq Acc Id: ENSP00000491539   ⟸   ENST00000640934
RefSeq Acc Id: ENSP00000491555   ⟸   ENST00000640807
RefSeq Acc Id: ENSP00000491920   ⟸   ENST00000640834
RefSeq Acc Id: ENSP00000491173   ⟸   ENST00000640773
RefSeq Acc Id: ENSP00000491418   ⟸   ENST00000640141
RefSeq Acc Id: ENSP00000492510   ⟸   ENST00000640182
RefSeq Acc Id: ENSP00000491463   ⟸   ENST00000640029
RefSeq Acc Id: ENSP00000492224   ⟸   ENST00000640093
RefSeq Acc Id: ENSP00000491435   ⟸   ENST00000640605
RefSeq Acc Id: ENSP00000492854   ⟸   ENST00000640632
RefSeq Acc Id: ENSP00000491545   ⟸   ENST00000640626
RefSeq Acc Id: ENSP00000491795   ⟸   ENST00000640523
RefSeq Acc Id: ENSP00000492153   ⟸   ENST00000640353
RefSeq Acc Id: ENSP00000491313   ⟸   ENST00000640386
RefSeq Acc Id: ENSP00000492283   ⟸   ENST00000484343
RefSeq Acc Id: ENSP00000385552   ⟸   ENST00000406533
RefSeq Acc Id: ENSP00000346321   ⟸   ENST00000354353
RefSeq Acc Id: ENSP00000482747   ⟸   ENST00000618048
RefSeq Acc Id: ENSP00000473714   ⟸   ENST00000604624
RefSeq Acc Id: ENSP00000402150   ⟸   ENST00000434208
RefSeq Acc Id: ENSP00000491045   ⟸   ENST00000475352
RefSeq Acc Id: XP_047281155   ⟸   XM_047425199
- Peptide Label: isoform X26
- UniProtKB: A0A1W2PPX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281152   ⟸   XM_047425196
- Peptide Label: isoform X12
- UniProtKB: A0A1W2PNH9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281153   ⟸   XM_047425197
- Peptide Label: isoform X19
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281151   ⟸   XM_047425195
- Peptide Label: isoform X11
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281156   ⟸   XM_047425200
- Peptide Label: isoform X30
- UniProtKB: J3KQ16 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281157   ⟸   XM_047425201
- Peptide Label: isoform X33
- UniProtKB: A0A1W2PQ39 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000516760   ⟸   ENST00000707138
RefSeq Acc Id: ENSP00000516759   ⟸   ENST00000707137
RefSeq Acc Id: NP_001397869   ⟸   NM_001410940
- Peptide Label: isoform n
- UniProtKB: A0A1W2PSD3 (UniProtKB/TrEMBL),   A0A1W2PNH9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221818   ⟸   XM_054365843
- Peptide Label: isoform X41
- UniProtKB: A0A1W2PNQ3 (UniProtKB/TrEMBL),   H0Y382 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221817   ⟸   XM_054365842
- Peptide Label: isoform X40
- UniProtKB: A0A1W2PNW6 (UniProtKB/TrEMBL),   A0A1W2PNY9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221816   ⟸   XM_054365841
- Peptide Label: isoform X39
- UniProtKB: A0A1W2PQA0 (UniProtKB/TrEMBL),   A0A1W2PNY9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221813   ⟸   XM_054365838
- Peptide Label: isoform X36
- UniProtKB: A0A1W2PPY5 (UniProtKB/TrEMBL),   A0A0A0MRR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221811   ⟸   XM_054365836
- Peptide Label: isoform X34
- UniProtKB: A0A0A0MRR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221803   ⟸   XM_054365828
- Peptide Label: isoform X26
- UniProtKB: A0A1W2PPX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221802   ⟸   XM_054365827
- Peptide Label: isoform X25
- UniProtKB: A0A1W2PNH9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221795   ⟸   XM_054365820
- Peptide Label: isoform X18
- UniProtKB: Q5SVJ9 (UniProtKB/TrEMBL),   A0A1W2PPX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221794   ⟸   XM_054365819
- Peptide Label: isoform X17
- UniProtKB: A0A1W2PR62 (UniProtKB/TrEMBL),   A0A1W2PNH9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221812   ⟸   XM_054365837
- Peptide Label: isoform X35
- UniProtKB: Q5SVJ8 (UniProtKB/TrEMBL),   A0A1W2PRV4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221814   ⟸   XM_054365839
- Peptide Label: isoform X37
- UniProtKB: H0Y382 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221805   ⟸   XM_054365830
- Peptide Label: isoform X28
- UniProtKB: A0A1W2PQ61 (UniProtKB/TrEMBL),   H0Y382 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221815   ⟸   XM_054365840
- Peptide Label: isoform X38
- UniProtKB: A0A1W2PRB0 (UniProtKB/TrEMBL),   A0A1W2PPZ1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221801   ⟸   XM_054365826
- Peptide Label: isoform X24
- UniProtKB: Q5SVJ7 (UniProtKB/TrEMBL),   A0A1W2PRG5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221793   ⟸   XM_054365818
- Peptide Label: isoform X16
- UniProtKB: A0A1W2PRN5 (UniProtKB/TrEMBL),   A0A1W2PPX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221792   ⟸   XM_054365817
- Peptide Label: isoform X15
- UniProtKB: A0A1W2PNH9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221799   ⟸   XM_054365824
- Peptide Label: isoform X22
- UniProtKB: A0A1W2PQ93 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221790   ⟸   XM_054365815
- Peptide Label: isoform X13
- UniProtKB: A0A1W2PQ93 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221789   ⟸   XM_054365814
- Peptide Label: isoform X12
- UniProtKB: A0A1W2PNH9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221784   ⟸   XM_054365809
- Peptide Label: isoform X7
- UniProtKB: A0A1W2PNH9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221797   ⟸   XM_054365822
- Peptide Label: isoform X20
- UniProtKB: A0A1W2PNH9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221787   ⟸   XM_054365812
- Peptide Label: isoform X10
- UniProtKB: A0A1W2PQ93 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221782   ⟸   XM_054365807
- Peptide Label: isoform X5
- UniProtKB: A0A1W2PPX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221781   ⟸   XM_054365806
- Peptide Label: isoform X4
- UniProtKB: A0A1W2PNH9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221779   ⟸   XM_054365804
- Peptide Label: isoform X2
- UniProtKB: A0A1W2PPX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221778   ⟸   XM_054365803
- Peptide Label: isoform X1
- UniProtKB: A0A1W2PRG5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221819   ⟸   XM_054365844
- Peptide Label: isoform X42
- UniProtKB: A0A0A0MRC3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221804   ⟸   XM_054365829
- Peptide Label: isoform X27
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221796   ⟸   XM_054365821
- Peptide Label: isoform X19
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221786   ⟸   XM_054365811
- Peptide Label: isoform X9
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221800   ⟸   XM_054365825
- Peptide Label: isoform X23
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221785   ⟸   XM_054365810
- Peptide Label: isoform X8
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221798   ⟸   XM_054365823
- Peptide Label: isoform X21
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221791   ⟸   XM_054365816
- Peptide Label: isoform X14
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221780   ⟸   XM_054365805
- Peptide Label: isoform X3
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221788   ⟸   XM_054365813
- Peptide Label: isoform X11
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221783   ⟸   XM_054365808
- Peptide Label: isoform X6
- UniProtKB: A0A1W2PQU4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221807   ⟸   XM_054365832
- Peptide Label: isoform X29
- UniProtKB: J3KQ16 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221806   ⟸   XM_054365831
- Peptide Label: isoform X30
- UniProtKB: J3KQ16 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221808   ⟸   XM_054365833
- Peptide Label: isoform X31
RefSeq Acc Id: XP_054221810   ⟸   XM_054365835
- Peptide Label: isoform X33
- UniProtKB: A0A1W2PQ39 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221809   ⟸   XM_054365834
- Peptide Label: isoform X32
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q12791-F1-model_v2 AlphaFold Q12791 1-1236 view protein structure

Promoters
RGD ID:7217935
Promoter ID:EPDNEW_H14713
Type:initiation region
Name:KCNMA1_2
Description:potassium calcium-activated channel subfamily M alpha 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14714  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381077,637,630 - 77,637,690EPDNEW
RGD ID:7217937
Promoter ID:EPDNEW_H14714
Type:initiation region
Name:KCNMA1_1
Description:potassium calcium-activated channel subfamily M alpha 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14713  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381077,637,808 - 77,637,868EPDNEW
RGD ID:6814919
Promoter ID:HG_MRA:2019
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AF349445
Position:
Human AssemblyChrPosition (strand)Source
Build 361078,924,336 - 78,924,836 (-)MPROMDB
RGD ID:6787603
Promoter ID:HG_KWN:10183
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000286627,   ENST00000354353,   ENST00000372421,   ENST00000372437,   ENST00000372440,   ENST00000406533
Position:
Human AssemblyChrPosition (strand)Source
Build 361079,067,306 - 79,067,806 (-)MPROMDB
RGD ID:6787804
Promoter ID:HG_KWN:10184
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000372443,   ENST00000404412,   NM_001014797,   NM_001161353,   OTTHUMT00000048877,   OTTHUMT00000048878,   OTTHUMT00000048880,   OTTHUMT00000048881,   OTTHUMT00000048883,   OTTHUMT00000048884,   OTTHUMT00000048891,   UC001JXN.1,   UC001JXT.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361079,068,081 - 79,068,581 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6284 AgrOrtholog
COSMIC KCNMA1 COSMIC
Ensembl Genes ENSG00000156113 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000286627 ENTREZGENE
  ENST00000286627.10 UniProtKB/Swiss-Prot
  ENST00000286628 ENTREZGENE
  ENST00000286628.14 UniProtKB/Swiss-Prot
  ENST00000354353 ENTREZGENE
  ENST00000354353.9 UniProtKB/TrEMBL
  ENST00000372403 ENTREZGENE
  ENST00000372403.9 UniProtKB/TrEMBL
  ENST00000372408.7 UniProtKB/TrEMBL
  ENST00000372421 ENTREZGENE
  ENST00000372421.10 UniProtKB/TrEMBL
  ENST00000372437.6 UniProtKB/TrEMBL
  ENST00000372440.6 UniProtKB/TrEMBL
  ENST00000372443 ENTREZGENE
  ENST00000372443.6 UniProtKB/TrEMBL
  ENST00000404771 ENTREZGENE
  ENST00000404771.8 UniProtKB/TrEMBL
  ENST00000404857 ENTREZGENE
  ENST00000404857.6 UniProtKB/TrEMBL
  ENST00000406533.7 UniProtKB/TrEMBL
  ENST00000434208.6 UniProtKB/Swiss-Prot
  ENST00000450795.6 UniProtKB/TrEMBL
  ENST00000457953 ENTREZGENE
  ENST00000457953.6 UniProtKB/TrEMBL
  ENST00000475352.1 UniProtKB/TrEMBL
  ENST00000480683 ENTREZGENE
  ENST00000480683.2 UniProtKB/Swiss-Prot
  ENST00000481070 ENTREZGENE
  ENST00000481070.1 UniProtKB/TrEMBL
  ENST00000484343.2 UniProtKB/TrEMBL
  ENST00000604624 ENTREZGENE
  ENST00000604624.6 UniProtKB/TrEMBL
  ENST00000618048 ENTREZGENE
  ENST00000618048.2 UniProtKB/TrEMBL
  ENST00000626620 ENTREZGENE
  ENST00000626620.3 UniProtKB/Swiss-Prot
  ENST00000637862.2 UniProtKB/TrEMBL
  ENST00000638203 ENTREZGENE
  ENST00000638203.1 UniProtKB/TrEMBL
  ENST00000638223 ENTREZGENE
  ENST00000638223.1 UniProtKB/TrEMBL
  ENST00000638249.1 UniProtKB/TrEMBL
  ENST00000638252.1 UniProtKB/TrEMBL
  ENST00000638283 ENTREZGENE
  ENST00000638283.1 UniProtKB/TrEMBL
  ENST00000638306 ENTREZGENE
  ENST00000638306.1 UniProtKB/TrEMBL
  ENST00000638351.1 UniProtKB/TrEMBL
  ENST00000638506.1 UniProtKB/TrEMBL
  ENST00000638514 ENTREZGENE
  ENST00000638514.1 UniProtKB/TrEMBL
  ENST00000638531.1 UniProtKB/TrEMBL
  ENST00000638575.1 UniProtKB/Swiss-Prot
  ENST00000638606 ENTREZGENE
  ENST00000638606.1 UniProtKB/TrEMBL
  ENST00000638751.1 UniProtKB/TrEMBL
  ENST00000638754 ENTREZGENE
  ENST00000638754.1 UniProtKB/TrEMBL
  ENST00000638759.1 UniProtKB/Swiss-Prot
  ENST00000638848 ENTREZGENE
  ENST00000638848.1 UniProtKB/TrEMBL
  ENST00000638895.1 UniProtKB/TrEMBL
  ENST00000638991 ENTREZGENE
  ENST00000638991.1 UniProtKB/TrEMBL
  ENST00000639090 ENTREZGENE
  ENST00000639090.1 UniProtKB/TrEMBL
  ENST00000639120 ENTREZGENE
  ENST00000639120.1 UniProtKB/TrEMBL
  ENST00000639205 ENTREZGENE
  ENST00000639205.1 UniProtKB/TrEMBL
  ENST00000639344.1 UniProtKB/TrEMBL
  ENST00000639370.1 UniProtKB/TrEMBL
  ENST00000639406 ENTREZGENE
  ENST00000639406.1 UniProtKB/TrEMBL
  ENST00000639483.1 UniProtKB/TrEMBL
  ENST00000639486 ENTREZGENE
  ENST00000639486.1 UniProtKB/TrEMBL
  ENST00000639489 ENTREZGENE
  ENST00000639489.1 UniProtKB/TrEMBL
  ENST00000639498.1 UniProtKB/TrEMBL
  ENST00000639544 ENTREZGENE
  ENST00000639544.1 UniProtKB/TrEMBL
  ENST00000639591.1 UniProtKB/TrEMBL
  ENST00000639601 ENTREZGENE
  ENST00000639601.1 UniProtKB/TrEMBL
  ENST00000639691.1 UniProtKB/TrEMBL
  ENST00000639716.1 UniProtKB/TrEMBL
  ENST00000639730.1 UniProtKB/TrEMBL
  ENST00000639823 ENTREZGENE
  ENST00000639823.1 UniProtKB/TrEMBL
  ENST00000639913.1 UniProtKB/TrEMBL
  ENST00000639968.1 UniProtKB/TrEMBL
  ENST00000639995.1 UniProtKB/TrEMBL
  ENST00000640029.1 UniProtKB/TrEMBL
  ENST00000640093.1 UniProtKB/TrEMBL
  ENST00000640141 ENTREZGENE
  ENST00000640141.1 UniProtKB/TrEMBL
  ENST00000640182 ENTREZGENE
  ENST00000640182.1 UniProtKB/TrEMBL
  ENST00000640353.1 UniProtKB/TrEMBL
  ENST00000640386.1 UniProtKB/TrEMBL
  ENST00000640523.1 UniProtKB/TrEMBL
  ENST00000640605.1 UniProtKB/TrEMBL
  ENST00000640626.1 UniProtKB/TrEMBL
  ENST00000640632.1 UniProtKB/TrEMBL
  ENST00000640773.1 UniProtKB/TrEMBL
  ENST00000640807 ENTREZGENE
  ENST00000640807.1 UniProtKB/TrEMBL
  ENST00000640834.1 UniProtKB/TrEMBL
  ENST00000640934 ENTREZGENE
  ENST00000640934.1 UniProtKB/TrEMBL
  ENST00000640969.1 UniProtKB/Swiss-Prot
  ENST00000707137.1 UniProtKB/TrEMBL
  ENST00000707138.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156113 GTEx
HGNC ID HGNC:6284 ENTREZGENE
Human Proteome Map KCNMA1 Human Proteome Map
InterPro Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_BK_asu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_Slo-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Slowpoke-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3778 UniProtKB/Swiss-Prot
NCBI Gene 3778 ENTREZGENE
OMIM 600150 OMIM
PANTHER CALCIUM-ACTIVATED POTASSIUM CHANNEL ALPHA CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CALCIUM-ACTIVATED POTASSIUM CHANNEL SUBUNIT ALPHA-1 UniProtKB/TrEMBL
  PTHR10027:SF28 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BK_channel_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Slowpoke_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA220 PharmGKB
PRINTS BKCHANNELA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WZL8 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MRC3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MRR0 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MSE6_HUMAN UniProtKB/TrEMBL
  A0A1B0GWD4_HUMAN UniProtKB/TrEMBL
  A0A1W2PNG1_HUMAN UniProtKB/TrEMBL
  A0A1W2PNH9 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PNN5_HUMAN UniProtKB/TrEMBL
  A0A1W2PNN6_HUMAN UniProtKB/TrEMBL
  A0A1W2PNQ3 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PNW6 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PNX9_HUMAN UniProtKB/TrEMBL
  A0A1W2PNY7_HUMAN UniProtKB/TrEMBL
  A0A1W2PNY8_HUMAN UniProtKB/TrEMBL
  A0A1W2PNY9 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PP06_HUMAN UniProtKB/TrEMBL
  A0A1W2PP26_HUMAN UniProtKB/TrEMBL
  A0A1W2PP37_HUMAN UniProtKB/TrEMBL
  A0A1W2PP76_HUMAN UniProtKB/TrEMBL
  A0A1W2PP94 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PPH9_HUMAN UniProtKB/TrEMBL
  A0A1W2PPQ3_HUMAN UniProtKB/TrEMBL
  A0A1W2PPS2_HUMAN UniProtKB/TrEMBL
  A0A1W2PPT7_HUMAN UniProtKB/TrEMBL
  A0A1W2PPX7 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PPY5 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PPZ1 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PQ39 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PQ53_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ61 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PQ93 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PQA0 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PQJ9_HUMAN UniProtKB/TrEMBL
  A0A1W2PQK5 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PQR1_HUMAN UniProtKB/TrEMBL
  A0A1W2PQU4 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PQZ4_HUMAN UniProtKB/TrEMBL
  A0A1W2PQZ8_HUMAN UniProtKB/TrEMBL
  A0A1W2PR56 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PR62 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PRA7_HUMAN UniProtKB/TrEMBL
  A0A1W2PRB0 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PRC3_HUMAN UniProtKB/TrEMBL
  A0A1W2PRE5_HUMAN UniProtKB/TrEMBL
  A0A1W2PRF1_HUMAN UniProtKB/TrEMBL
  A0A1W2PRG5 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PRJ1_HUMAN UniProtKB/TrEMBL
  A0A1W2PRN5 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PRT6_HUMAN UniProtKB/TrEMBL
  A0A1W2PRV4 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PRX6_HUMAN UniProtKB/TrEMBL
  A0A1W2PS54_HUMAN UniProtKB/TrEMBL
  A0A1W2PS97_HUMAN UniProtKB/TrEMBL
  A0A1W2PSA7_HUMAN UniProtKB/TrEMBL
  A0A1W2PSD3 ENTREZGENE, UniProtKB/TrEMBL
  A0A9L9PXP1_HUMAN UniProtKB/TrEMBL
  A0A9L9PYL6_HUMAN UniProtKB/TrEMBL
  B7ZMF5 ENTREZGENE, UniProtKB/TrEMBL
  D5MRH1 ENTREZGENE, UniProtKB/TrEMBL
  F8WA96 ENTREZGENE
  H0Y379_HUMAN UniProtKB/TrEMBL
  H0Y382 ENTREZGENE, UniProtKB/TrEMBL
  H0Y406_HUMAN UniProtKB/TrEMBL
  J3KQ16 ENTREZGENE, UniProtKB/TrEMBL
  KCMA1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q12886 ENTREZGENE
  Q12917 ENTREZGENE
  Q12921 ENTREZGENE
  Q12960 ENTREZGENE
  Q13150 ENTREZGENE
  Q59FH2_HUMAN UniProtKB/TrEMBL
  Q5JQ23 ENTREZGENE
  Q5SQR9 ENTREZGENE
  Q5SVJ7 ENTREZGENE, UniProtKB/TrEMBL
  Q5SVJ8 ENTREZGENE, UniProtKB/TrEMBL
  Q5SVJ9 ENTREZGENE, UniProtKB/TrEMBL
  Q5SVK0_HUMAN UniProtKB/TrEMBL
  Q5SVK5_HUMAN UniProtKB/TrEMBL
  Q6AI34 ENTREZGENE, UniProtKB/TrEMBL
  Q96LG8 ENTREZGENE
  Q9UBB0 ENTREZGENE
  Q9UCX0 ENTREZGENE
  Q9UQK6 ENTREZGENE
  S4R2X4_HUMAN UniProtKB/TrEMBL
  S4R453 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary F8WA96 UniProtKB/Swiss-Prot
  Q12886 UniProtKB/Swiss-Prot
  Q12917 UniProtKB/Swiss-Prot
  Q12921 UniProtKB/Swiss-Prot
  Q12960 UniProtKB/Swiss-Prot
  Q13150 UniProtKB/Swiss-Prot
  Q5JQ23 UniProtKB/Swiss-Prot
  Q5SQR9 UniProtKB/Swiss-Prot
  Q96LG8 UniProtKB/Swiss-Prot
  Q9UBB0 UniProtKB/Swiss-Prot
  Q9UCX0 UniProtKB/Swiss-Prot
  Q9UQK6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNMA1  potassium calcium-activated channel subfamily M alpha 1  KCNMA1  potassium channel, calcium activated large conductance subfamily M alpha, member 1  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNMA1  potassium channel, calcium activated large conductance subfamily M alpha, member 1  KCNMA1  potassium large conductance calcium-activated channel, subfamily M, alpha member 1  Symbol and/or name change 5135510 APPROVED