EPM2A (EPM2A glucan phosphatase, laforin) - Rat Genome Database

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Gene: EPM2A (EPM2A glucan phosphatase, laforin) Homo sapiens
Analyze
Symbol: EPM2A
Name: EPM2A glucan phosphatase, laforin
RGD ID: 736258
HGNC Page HGNC:3413
Description: Enables glycogen binding activity; phosphatase activity; and protein homodimerization activity. Involved in glycogen metabolic process; negative regulation of phosphatase activity; and peptidyl-tyrosine dephosphorylation. Acts upstream of or within negative regulation of TOR signaling and positive regulation of macroautophagy. Located in cytoplasmic side of rough endoplasmic reticulum membrane; cytosol; and nucleoplasm. Implicated in progressive myoclonus epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: epilepsy, progressive myoclonic epilepsy, type 2 gene alpha; epilepsy, progressive myoclonus type 2, Lafora disease (laforin); epilepsy, progressive myoclonus type 2A, Lafora disease (laforin); EPM2; EPM2A, laforin glucan phosphatase; glucan phosphatase; glycogen phosphatase; lafora PTPase; laforin; LAFPTPase; MELF; MELF2; RP3-466P17.2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386145,383,353 - 145,736,023 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6145,382,535 - 145,736,023 (-)Ensemblhg38GRCh38
GRCh376145,946,441 - 146,057,159 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366145,988,133 - 146,098,684 (-)NCBIBuild 36Build 36hg18NCBI36
Build 346145,988,132 - 146,098,684NCBI
Celera6146,686,800 - 146,797,348 (-)NCBICelera
Cytogenetic Map6q24.3NCBI
HuRef6143,510,000 - 143,620,189 (-)NCBIHuRef
CHM1_16146,209,644 - 146,320,201 (-)NCBICHM1_1
T2T-CHM13v2.06146,574,195 - 146,956,629 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
autophagosome assembly  (IEA)
autophagy  (IEA)
calcium ion transport  (IEA)
carbohydrate phosphorylation  (IEA)
dephosphorylation  (IDA)
glial cell proliferation  (IEA)
glycogen biosynthetic process  (IEA,ISO,TAS)
glycogen metabolic process  (IEA,IMP,NAS)
habituation  (IEA)
L-glutamate transmembrane transport  (IEA)
mitochondrion organization  (IEA)
negative regulation of cell cycle  (IEA)
negative regulation of dephosphorylation  (IDA)
negative regulation of gene expression  (IEA)
negative regulation of metabolic process  (IEA)
negative regulation of peptidyl-serine phosphorylation  (ISO)
negative regulation of phosphatase activity  (IDA)
negative regulation of TOR signaling  (IMP)
nervous system development  (IEA)
peptidyl-tyrosine dephosphorylation  (IMP)
phosphate-containing compound metabolic process  (IEA)
positive regulation of macroautophagy  (IEA,IMP)
proteasome-mediated ubiquitin-dependent protein catabolic process  (IEA)
protein dephosphorylation  (IDA)
regulation of cell growth  (IEA)
regulation of gene expression  (IEA)
regulation of glycogen (starch) synthase activity  (ISO)
regulation of phosphorylation  (ISO)
regulation of proteasomal protein catabolic process  (IEA)
regulation of protein import into nucleus  (IEA)
regulation of protein kinase activity  (ISO)
regulation of protein localization to plasma membrane  (IEA)
regulation of protein phosphorylation  (ISO)
regulation of protein ubiquitination  (IEA)
regulation of ubiquitin protein ligase activity  (ISO)
Wnt signaling pathway  (IEA)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Mutations in NHLRC1 cause progressive myoclonus epilepsy. Chan EM, etal., Nat Genet 2003 Oct;35(2):125-7. Epub 2003 Sep 7.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Minassian BA, etal., Nat Genet. 1998 Oct;20(2):171-4.
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
Additional References at PubMed
PMID:7485240   PMID:9222970   PMID:9345091   PMID:9931343   PMID:11001928   PMID:11175283   PMID:11220751   PMID:11735300   PMID:11739371   PMID:11883934   PMID:12019207   PMID:12477932  
PMID:12560877   PMID:12782127   PMID:12915448   PMID:14532330   PMID:14643920   PMID:14702039   PMID:14706656   PMID:14722920   PMID:15009235   PMID:15489334   PMID:15930137   PMID:16115820  
PMID:16901901   PMID:16959610   PMID:16971387   PMID:17337485   PMID:17509003   PMID:17646401   PMID:17908927   PMID:18029386   PMID:18070875   PMID:18311786   PMID:18617530   PMID:19036738  
PMID:19171932   PMID:19267391   PMID:19403557   PMID:19529779   PMID:20301563   PMID:20453062   PMID:20534808   PMID:20738377   PMID:21371719   PMID:21505799   PMID:21652633   PMID:21728993  
PMID:21887368   PMID:21930129   PMID:22036712   PMID:22047982   PMID:22364389   PMID:22578008   PMID:22815132   PMID:22961547   PMID:23313408   PMID:23624058   PMID:23904258   PMID:23922729  
PMID:24068615   PMID:24770803   PMID:24837458   PMID:25246353   PMID:25270369   PMID:25538239   PMID:25544560   PMID:26102034   PMID:26167880   PMID:26186194   PMID:26216881   PMID:26493215  
PMID:26496610   PMID:26546463   PMID:26578817   PMID:26648032   PMID:26752685   PMID:27092952   PMID:27194917   PMID:27574708   PMID:27702709   PMID:28131202   PMID:28514442   PMID:28675297  
PMID:28800070   PMID:28818698   PMID:28934672   PMID:29845934   PMID:29852174   PMID:30041081   PMID:30554943   PMID:31758957   PMID:32814053   PMID:33660365   PMID:33961781   PMID:34147889  
PMID:35944360   PMID:36638890  


Genomics

Comparative Map Data
EPM2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386145,383,353 - 145,736,023 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6145,382,535 - 145,736,023 (-)Ensemblhg38GRCh38
GRCh376145,946,441 - 146,057,159 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366145,988,133 - 146,098,684 (-)NCBIBuild 36Build 36hg18NCBI36
Build 346145,988,132 - 146,098,684NCBI
Celera6146,686,800 - 146,797,348 (-)NCBICelera
Cytogenetic Map6q24.3NCBI
HuRef6143,510,000 - 143,620,189 (-)NCBIHuRef
CHM1_16146,209,644 - 146,320,201 (-)NCBICHM1_1
T2T-CHM13v2.06146,574,195 - 146,956,629 (-)NCBIT2T-CHM13v2.0
Epm2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391011,218,435 - 11,335,408 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1011,219,148 - 11,335,388 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm381011,342,691 - 11,459,664 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1011,343,404 - 11,459,644 (+)Ensemblmm10GRCm38
MGSCv371011,063,243 - 11,177,275 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361011,033,594 - 11,147,912 (+)NCBIMGSCv36mm8
Celera1011,232,470 - 11,346,997 (+)NCBICelera
Cytogenetic Map10A1NCBI
cM Map103.66NCBI
Epm2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr817,547,369 - 7,673,449 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl17,547,342 - 7,669,604 (+)EnsemblGRCr8
mRatBN7.215,727,111 - 5,845,338 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl15,727,066 - 5,920,555 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx15,419,467 - 5,535,147 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0111,419,821 - 11,535,500 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.015,701,665 - 5,817,345 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.015,448,958 - 5,571,512 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl15,448,958 - 5,571,512 (+)Ensemblrn6Rnor6.0
Rnor_5.017,100,639 - 7,223,403 (+)NCBIRnor_5.0Rnor_5.0rn5
Celera14,243,803 - 4,360,561 (+)NCBICelera
RGSC_v3.116,051,557 - 6,172,313 (+)NCBI
Cytogenetic Map1p13NCBI
Epm2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543614,926,123 - 14,983,180 (+)Ensembl
ChiLan1.0NW_00495543614,925,452 - 14,982,357 (+)NCBIChiLan1.0ChiLan1.0
EPM2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25165,625,021 - 165,749,502 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16163,278,722 - 163,622,838 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06143,179,097 - 143,525,223 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16148,133,563 - 148,238,519 (-)NCBIPanPan1.1PanPan1.1panPan2
EPM2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1136,835,775 - 36,977,653 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl136,870,594 - 36,931,847 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha137,577,467 - 37,858,360 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0136,862,309 - 37,141,316 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl137,028,269 - 37,141,626 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1136,732,602 - 37,013,661 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0136,604,089 - 36,884,723 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0137,104,772 - 37,201,859 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Epm2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946131,813,991 - 131,874,561 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936625738,124 - 821,566 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936625761,013 - 819,826 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EPM2A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl119,806,765 - 19,893,339 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1119,806,363 - 19,893,350 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2122,050,546 - 22,135,943 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EPM2A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11326,152,974 - 26,266,676 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1326,153,319 - 26,264,568 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_023666040202,127,578 - 202,247,016 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Epm2a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247538,715,898 - 8,804,194 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247538,715,898 - 8,805,728 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Epm2a
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v12225,773,934 - 225,887,386 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in EPM2A
462 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005670.4(EPM2A):c.410A>G (p.Asn137Ser) single nucleotide variant Inborn genetic diseases [RCV002527768]|Progressive myoclonic epilepsy [RCV000554307]|not provided [RCV001569249] Chr6:145686188 [GRCh38]
Chr6:146007324 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) single nucleotide variant EPM2A-related disorder [RCV004757945]|Inborn genetic diseases [RCV002371755]|Lafora disease [RCV000003244]|Myoclonic epilepsy of Lafora 1 [RCV004576870]|Progressive myoclonic epilepsy [RCV000703218]|not provided [RCV000187394] Chr6:145627691 [GRCh38]
Chr6:145948827 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.904G>A (p.Ala302Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV000545859] Chr6:145627508 [GRCh38]
Chr6:145948644 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.170C>T (p.Pro57Leu) single nucleotide variant Inborn genetic diseases [RCV002314974]|Progressive myoclonic epilepsy [RCV000548857] Chr6:145735329 [GRCh38]
Chr6:146056465 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.640C>G (p.Pro214Ala) single nucleotide variant Progressive myoclonic epilepsy [RCV000525708] Chr6:145635323 [GRCh38]
Chr6:145956459 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) single nucleotide variant Lafora disease [RCV005252656]|Myoclonic epilepsy of Lafora 1 [RCV004576871]|Progressive myoclonic epilepsy [RCV003746498]|not provided [RCV000675700] Chr6:145627577 [GRCh38]
Chr6:145948713 [GRCh37]
Chr6:6q24.3		 pathogenic|likely pathogenic
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) single nucleotide variant Lafora disease [RCV005252657]|Myoclonic epilepsy of Lafora 1 [RCV004576872]|Progressive myoclonic epilepsy [RCV001851604] Chr6:145686276 [GRCh38]
Chr6:146007412 [GRCh37]
Chr6:6q24.3		 pathogenic|likely pathogenic
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter) duplication Lafora disease [RCV005252658]|Myoclonic epilepsy of Lafora 1 [RCV004576873] Chr6:145686262..145686263 [GRCh38]
Chr6:146007398..146007399 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) single nucleotide variant Lafora disease [RCV000003248]|Myoclonic epilepsy of Lafora 1 [RCV004576874]|Progressive myoclonic epilepsy [RCV000469417]|not provided [RCV004566675] Chr6:145635451 [GRCh38]
Chr6:145956587 [GRCh37]
Chr6:6q24.3		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_005670.4(EPM2A):c.953dup (p.Gln319fs) duplication Lafora disease [RCV005252659]|Myoclonic epilepsy of Lafora 1 [RCV004576875] Chr6:145627458..145627459 [GRCh38]
Chr6:145948594..145948595 [GRCh37]
Chr6:6q24.3		 pathogenic|likely pathogenic
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) single nucleotide variant Lafora disease [RCV005252660]|Myoclonic epilepsy of Lafora 1 [RCV004576876]|Progressive myoclonic epilepsy [RCV002512695]|not provided [RCV000494425] Chr6:145735405 [GRCh38]
Chr6:146056541 [GRCh37]
Chr6:6q24.3		 pathogenic|likely pathogenic
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27		 pathogenic
GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1 copy number loss See cases [RCV000052206] Chr6:144932561..152985364 [GRCh38]
Chr6:145253697..153306499 [GRCh37]
Chr6:145295390..153348192 [NCBI36]
Chr6:6q24.2-25.2		 pathogenic
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) single nucleotide variant Inborn genetic diseases [RCV002316958]|Lafora disease [RCV000192023]|Progressive myoclonic epilepsy [RCV000232414]|not provided [RCV000711612]|not specified [RCV000173389] Chr6:145735363 [GRCh38]
Chr6:146056499 [GRCh37]
Chr6:6q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) single nucleotide variant Inborn genetic diseases [RCV002311628]|Lafora disease [RCV000576867]|Progressive myoclonic epilepsy [RCV001509746]|not provided [RCV000675705]|not specified [RCV000081322] Chr6:145735340 [GRCh38]
Chr6:146056476 [GRCh37]
Chr6:6q24.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) single nucleotide variant Inborn genetic diseases [RCV002312106]|Lafora disease [RCV000192024]|Progressive myoclonic epilepsy [RCV001082888]|not provided [RCV000675704]|not specified [RCV000116984] Chr6:145735336 [GRCh38]
Chr6:146056472 [GRCh37]
Chr6:6q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) single nucleotide variant Inborn genetic diseases [RCV002313878]|Progressive myoclonic epilepsy [RCV001082328]|not provided [RCV000675702]|not specified [RCV000116985] Chr6:145686205 [GRCh38]
Chr6:146007341 [GRCh37]
Chr6:6q24.3		 benign|likely benign
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) single nucleotide variant Inborn genetic diseases [RCV002312107]|Lafora disease [RCV000576489]|Progressive myoclonic epilepsy [RCV001509745]|not provided [RCV000675701]|not specified [RCV000116986] Chr6:145686196 [GRCh38]
Chr6:146007332 [GRCh37]
Chr6:6q24.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005670.4(EPM2A):c.719-4G>A single nucleotide variant Inborn genetic diseases [RCV002313879]|Progressive myoclonic epilepsy [RCV000233325]|not provided [RCV001705830]|not specified [RCV000116987] Chr6:145627697 [GRCh38]
Chr6:145948833 [GRCh37]
Chr6:6q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_005670.4(EPM2A):c.171G>T (p.Pro57=) single nucleotide variant Inborn genetic diseases [RCV002399496]|Progressive myoclonic epilepsy [RCV000638327]|not specified [RCV000124900] Chr6:145735328 [GRCh38]
Chr6:146056464 [GRCh37]
Chr6:6q24.3		 benign|likely benign
NM_005670.4(EPM2A):c.762G>A (p.Ala254=) single nucleotide variant EPM2A-related disorder [RCV003975104]|Inborn genetic diseases [RCV002390280]|Progressive myoclonic epilepsy [RCV001474513]|not specified [RCV000124902] Chr6:145627650 [GRCh38]
Chr6:145948786 [GRCh37]
Chr6:6q24.3		 benign|likely benign
NM_005670.4(EPM2A):c.849T>C (p.Tyr283=) single nucleotide variant Inborn genetic diseases [RCV002312871]|Progressive myoclonic epilepsy [RCV000462594]|not provided [RCV004704975]|not specified [RCV000124903] Chr6:145627563 [GRCh38]
Chr6:145948699 [GRCh37]
Chr6:6q24.3		 benign|likely benign
NM_005670.4(EPM2A):c.903G>C (p.Pro301=) single nucleotide variant Inborn genetic diseases [RCV002312559]|Progressive myoclonic epilepsy [RCV000533238]|not specified [RCV000178248] Chr6:145627509 [GRCh38]
Chr6:145948645 [GRCh37]
Chr6:6q24.3		 benign|likely benign
NM_005670.4(EPM2A):c.-15C>A single nucleotide variant not provided [RCV000675707]|not specified [RCV000173391] Chr6:145735513 [GRCh38]
Chr6:146056649 [GRCh37]
Chr6:6q24.3		 benign
NM_005670.4(EPM2A):c.24G>A (p.Val8=) single nucleotide variant Inborn genetic diseases [RCV002312560]|Lafora disease [RCV003224163]|Progressive myoclonic epilepsy [RCV001081094]|not provided [RCV000675706]|not specified [RCV000186627] Chr6:145735475 [GRCh38]
Chr6:146056611 [GRCh37]
Chr6:6q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005670.4(EPM2A):c.129C>G (p.Ala43=) single nucleotide variant Inborn genetic diseases [RCV002312561]|Progressive myoclonic epilepsy [RCV001085709]|not provided [RCV000724454]|not specified [RCV000186628] Chr6:145735370 [GRCh38]
Chr6:146056506 [GRCh37]
Chr6:6q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln) single nucleotide variant Inborn genetic diseases [RCV002317793]|Lafora disease [RCV001801687]|Progressive myoclonic epilepsy [RCV000524852]|not provided [RCV000255450] Chr6:145735291 [GRCh38]
Chr6:146056427 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) single nucleotide variant EPM2A-related disorder [RCV004757969]|Inborn genetic diseases [RCV002313020]|Lafora disease [RCV000765869]|Progressive myoclonic epilepsy [RCV000700602]|not provided [RCV000724166] Chr6:145735264 [GRCh38]
Chr6:146056400 [GRCh37]
Chr6:6q24.3		 likely benign|uncertain significance
NM_005670.4(EPM2A):c.757_758dup (p.Ala254fs) duplication Lafora disease [RCV005255274] Chr6:145627653..145627654 [GRCh38]
Chr6:145948789..145948790 [GRCh37]
Chr6:6q24.3		 pathogenic|uncertain significance
NM_005670.4(EPM2A):c.212C>T (p.Ala71Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001294467] Chr6:145735287 [GRCh38]
Chr6:146056423 [GRCh37]
Chr6:6q24.3		 uncertain significance
GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3 copy number gain See cases [RCV000136826] Chr6:135358150..155455117 [GRCh38]
Chr6:135679288..155776251 [GRCh37]
Chr6:135720981..155817943 [NCBI36]
Chr6:6q23.3-25.3		 pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27		 pathogenic
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) single nucleotide variant Cataract [RCV000626888]|EPM2A-related disorder [RCV003927479]|Inborn genetic diseases [RCV002345488]|Progressive myoclonic epilepsy [RCV000232652]|not provided [RCV001704109]|not specified [RCV000153197] Chr6:145686222 [GRCh38]
Chr6:146007358 [GRCh37]
Chr6:6q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 6q24.2-24.3(chr6:144764447-145609129)x3 copy number gain See cases [RCV000134310] Chr6:144764447..145609129 [GRCh38]
Chr6:145085583..145930265 [GRCh37]
Chr6:145127276..145971958 [NCBI36]
Chr6:6q24.2-24.3		 uncertain significance
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) single nucleotide variant EPM2A-related disorder [RCV003907592]|Inborn genetic diseases [RCV002314628]|Intellectual disability [RCV001252481]|Progressive myoclonic epilepsy [RCV001083180]|not provided [RCV000177234]|not specified [RCV004998378] Chr6:145635283 [GRCh38]
Chr6:145956419 [GRCh37]
Chr6:6q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005670.4(EPM2A):c.600G>T (p.Gln200His) single nucleotide variant Progressive myoclonic epilepsy [RCV000694882]|not provided [RCV000177235] Chr6:145635363 [GRCh38]
Chr6:145956499 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.149G>A (p.Gly50Glu) single nucleotide variant Progressive myoclonic epilepsy [RCV001060407]|not provided [RCV000187385] Chr6:145735350 [GRCh38]
Chr6:146056486 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.553G>A (p.Gly185Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV001852454]|not provided [RCV000187387] Chr6:145635410 [GRCh38]
Chr6:145956546 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter) single nucleotide variant Lafora disease [RCV005252797]|Myoclonic epilepsy of Lafora 1 [RCV003988834]|not provided [RCV000187391] Chr6:145735333 [GRCh38]
Chr6:146056469 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.193G>A (p.Glu65Lys) single nucleotide variant Progressive myoclonic epilepsy [RCV001068801]|not provided [RCV000187392] Chr6:145735306 [GRCh38]
Chr6:146056442 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.209A>T (p.Glu70Val) single nucleotide variant Myoclonic epilepsy of Lafora 1 [RCV003989499]|not provided [RCV000187393] Chr6:145735290 [GRCh38]
Chr6:146056426 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.878A>T (p.Gln293Leu) single nucleotide variant Lafora disease [RCV005252798]|not provided [RCV000187395] Chr6:145627534 [GRCh38]
Chr6:145948670 [GRCh37]
Chr6:6q24.3		 pathogenic|likely pathogenic
NM_005670.4(EPM2A):c.902C>T (p.Pro301Leu) single nucleotide variant Lafora disease [RCV005254687]|Progressive myoclonic epilepsy [RCV003060087] Chr6:145627510 [GRCh38]
Chr6:145948646 [GRCh37]
Chr6:6q24.3		 likely pathogenic|uncertain significance
NM_005670.4(EPM2A):c.379G>A (p.Gly127Arg) single nucleotide variant not provided [RCV000187400] Chr6:145686219 [GRCh38]
Chr6:146007355 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.446T>C (p.Ile149Thr) single nucleotide variant Inborn genetic diseases [RCV004975318]|Progressive myoclonic epilepsy [RCV000696629]|not provided [RCV000187401] Chr6:145686152 [GRCh38]
Chr6:146007288 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.4C>T (p.Arg2Cys) single nucleotide variant Progressive myoclonic epilepsy [RCV001852455]|not provided [RCV000187402] Chr6:145735495 [GRCh38]
Chr6:146056631 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.44G>A (p.Gly15Asp) single nucleotide variant not provided [RCV000187403] Chr6:145735455 [GRCh38]
Chr6:146056591 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.77G>T (p.Arg26Leu) single nucleotide variant Inborn genetic diseases [RCV002408832]|Progressive myoclonic epilepsy [RCV000532466]|not provided [RCV000187404] Chr6:145735422 [GRCh38]
Chr6:146056558 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.88G>A (p.Gly30Arg) single nucleotide variant not provided [RCV000187405] Chr6:145735411 [GRCh38]
Chr6:146056547 [GRCh37]
Chr6:6q24.3		 likely pathogenic
NM_005670.4(EPM2A):c.639_640delinsAA (p.Pro214Thr) indel Progressive myoclonic epilepsy [RCV001313813] Chr6:145635323..145635324 [GRCh38]
Chr6:145956459..145956460 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.818C>G (p.Ser273Cys) single nucleotide variant not provided [RCV000187409] Chr6:145627594 [GRCh38]
Chr6:145948730 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.992T>C (p.Leu331Pro) single nucleotide variant not provided [RCV000187410] Chr6:145627420 [GRCh38]
Chr6:145948556 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.100C>G (p.Pro34Ala) single nucleotide variant Inborn genetic diseases [RCV004619220]|Progressive myoclonic epilepsy [RCV001052739]|not provided [RCV000187411] Chr6:145735399 [GRCh38]
Chr6:146056535 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.157_159delinsACG (p.Ala53Thr) indel not specified [RCV000187412] Chr6:145735340..145735342 [GRCh38]
Chr6:146056476..146056478 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.974G>A (p.Arg325His) single nucleotide variant Progressive myoclonic epilepsy [RCV001218707]|not specified [RCV000187383] Chr6:145627438 [GRCh38]
Chr6:145948574 [GRCh37]
Chr6:6q24.3		 likely benign|uncertain significance
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg) single nucleotide variant Inborn genetic diseases [RCV002317094]|Lafora disease [RCV003607255]|Myoclonic epilepsy of Lafora 1 [RCV005400430]|Progressive myoclonic epilepsy [RCV000638309]|not provided [RCV000426321] Chr6:145735351 [GRCh38]
Chr6:146056487 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser) single nucleotide variant Inborn genetic diseases [RCV004619219]|Lafora disease [RCV000765868]|Progressive myoclonic epilepsy [RCV000696786]|not provided [RCV000187386] Chr6:145635475 [GRCh38]
Chr6:145956611 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.620G>A (p.Arg207His) single nucleotide variant EPM2A-related disorder [RCV003977496]|Inborn genetic diseases [RCV002362981]|Progressive myoclonic epilepsy [RCV001088121]|not provided [RCV000726476] Chr6:145635343 [GRCh38]
Chr6:145956479 [GRCh37]
Chr6:6q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005670.4(EPM2A):c.644A>T (p.Asp215Val) single nucleotide variant Myoclonic epilepsy of Lafora 1 [RCV005400431]|Progressive myoclonic epilepsy [RCV000638310]|not provided [RCV000726261] Chr6:145635319 [GRCh38]
Chr6:145956455 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.157G>A (p.Ala53Thr) single nucleotide variant Inborn genetic diseases [RCV002399696]|Progressive myoclonic epilepsy [RCV000706648]|not provided [RCV001721193] Chr6:145735342 [GRCh38]
Chr6:146056478 [GRCh37]
Chr6:6q24.3		 likely benign|uncertain significance
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) single nucleotide variant EPM2A-related disorder [RCV003967473]|Inborn genetic diseases [RCV002317095]|Lafora disease [RCV001331453]|Myoclonic epilepsy of Lafora 1 [RCV004799194]|Progressive myoclonic epilepsy [RCV001084331]|not provided [RCV000727316]|not specified [RCV000187396] Chr6:145627690 [GRCh38]
Chr6:145948826 [GRCh37]
Chr6:6q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005670.4(EPM2A):c.241G>A (p.Val81Met) single nucleotide variant Inborn genetic diseases [RCV005328225]|Progressive myoclonic epilepsy [RCV000696730]|not provided [RCV000187399] Chr6:145735258 [GRCh38]
Chr6:146056394 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr) single nucleotide variant EPM2A-related disorder [RCV003927738]|Inborn genetic diseases [RCV002381628]|Lafora disease [RCV000765870]|Myoclonic epilepsy of Lafora 1 [RCV004799195]|Progressive myoclonic epilepsy [RCV000528451]|not provided [RCV000187406] Chr6:145735363 [GRCh38]
Chr6:146056499 [GRCh37]
Chr6:6q24.3		 likely benign|uncertain significance
NM_005670.4(EPM2A):c.303_476+1del deletion not provided [RCV000187408] Chr6:145686121..145686295 [GRCh38]
Chr6:146007257..146007431 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.210G>A (p.Glu70=) single nucleotide variant Progressive myoclonic epilepsy [RCV001397001] Chr6:145735289 [GRCh38]
Chr6:146056425 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.917A>T (p.Asp306Val) single nucleotide variant Lafora disease [RCV005252917]|not provided [RCV000487558] Chr6:145627495 [GRCh38]
Chr6:145948631 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.719-301C>T single nucleotide variant not provided [RCV001567488] Chr6:145627994 [GRCh38]
Chr6:145949130 [GRCh37]
Chr6:6q24.3		 likely benign
GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510) copy number loss not provided [RCV000767713] Chr6:135239633..146997510 [GRCh37]
Chr6:6q23.3-24.3		 pathogenic
NM_005670.4(EPM2A):c.314A>G (p.His105Arg) single nucleotide variant Self-limited epilepsy with centrotemporal spikes [RCV000655996] Chr6:145686284 [GRCh38]
Chr6:146007420 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.979T>C (p.Ser327Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV000638308] Chr6:145627433 [GRCh38]
Chr6:145948569 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.70G>C (p.Gly24Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV000638316] Chr6:145735429 [GRCh38]
Chr6:146056565 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.569T>A (p.Met190Lys) single nucleotide variant Progressive myoclonic epilepsy [RCV000638324] Chr6:145635394 [GRCh38]
Chr6:145956530 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.825G>A (p.Ala275=) single nucleotide variant Progressive myoclonic epilepsy [RCV000540187]|not provided [RCV001675917] Chr6:145627587 [GRCh38]
Chr6:145948723 [GRCh37]
Chr6:6q24.3		 benign|likely benign|uncertain significance
NM_005670.4(EPM2A):c.435C>A (p.Phe145Leu) single nucleotide variant not specified [RCV000413271] Chr6:145686163 [GRCh38]
Chr6:146007299 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.487A>G (p.Asn163Asp) single nucleotide variant Lafora disease [RCV005252880]|Progressive myoclonic epilepsy [RCV001850991]|not provided [RCV000413724] Chr6:145635476 [GRCh38]
Chr6:145956612 [GRCh37]
Chr6:6q24.3		 likely pathogenic|uncertain significance
NM_005670.3(EPM2A):c.-41G>A single nucleotide variant not specified [RCV000417497] Chr6:145735539 [GRCh38]
Chr6:146056675 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.822C>T (p.Thr274=) single nucleotide variant Progressive myoclonic epilepsy [RCV002522375]|not provided [RCV001356548]|not specified [RCV000420632] Chr6:145627590 [GRCh38]
Chr6:145948726 [GRCh37]
Chr6:6q24.3		 likely benign|uncertain significance
NM_005670.4(EPM2A):c.301+4T>C single nucleotide variant Progressive myoclonic epilepsy [RCV001861590]|not provided [RCV001704415] Chr6:145735194 [GRCh38]
Chr6:146056330 [GRCh37]
Chr6:6q24.3		 likely benign|uncertain significance
NM_005670.4(EPM2A):c.301+5T>C single nucleotide variant Inborn genetic diseases [RCV005328265]|Progressive myoclonic epilepsy [RCV001058008]|not specified [RCV000438038] Chr6:145735193 [GRCh38]
Chr6:146056329 [GRCh37]
Chr6:6q24.3		 likely benign|uncertain significance
NM_005670.4(EPM2A):c.870G>A (p.Arg290=) single nucleotide variant not specified [RCV000417877] Chr6:145627542 [GRCh38]
Chr6:145948678 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.776G>A (p.Gly259Glu) single nucleotide variant Inborn genetic diseases [RCV002411416]|Progressive myoclonic epilepsy [RCV000813908]|not provided [RCV000427841] Chr6:145627636 [GRCh38]
Chr6:145948772 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp) single nucleotide variant Inborn genetic diseases [RCV002392951]|Lafora disease [RCV000768208]|Progressive myoclonic epilepsy [RCV000536343]|not provided [RCV000434593] Chr6:145735356 [GRCh38]
Chr6:146056492 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.876G>A (p.Val292=) single nucleotide variant Inborn genetic diseases [RCV002374713]|Progressive myoclonic epilepsy [RCV000552826]|not provided [RCV001698394] Chr6:145627536 [GRCh38]
Chr6:145948672 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.744G>A (p.Ala248=) single nucleotide variant EPM2A-related disorder [RCV003942374]|Progressive myoclonic epilepsy [RCV003583157]|not specified [RCV000424661] Chr6:145627668 [GRCh38]
Chr6:145948804 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.301+20G>T single nucleotide variant not specified [RCV000421387] Chr6:145735178 [GRCh38]
Chr6:146056314 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.66G>A (p.Val22=) single nucleotide variant not specified [RCV000428388] Chr6:145735433 [GRCh38]
Chr6:146056569 [GRCh37]
Chr6:6q24.3		 likely benign
GRCh37/hg19 6q24.1-24.3(chr6:140746967-146877424)x1 copy number loss See cases [RCV000445733] Chr6:140746967..146877424 [GRCh37]
Chr6:6q24.1-24.3		 pathogenic
NM_005670.4(EPM2A):c.396C>T (p.Ala132=) single nucleotide variant not specified [RCV000419000] Chr6:145686202 [GRCh38]
Chr6:146007338 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.801C>T (p.Asn267=) single nucleotide variant Progressive myoclonic epilepsy [RCV001481246]|not specified [RCV000422000] Chr6:145627611 [GRCh38]
Chr6:145948747 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.152C>A (p.Ala51Asp) single nucleotide variant not provided [RCV000439553] Chr6:145735347 [GRCh38]
Chr6:146056483 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.-3G>A single nucleotide variant not specified [RCV000440088] Chr6:145735501 [GRCh38]
Chr6:146056637 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.3(EPM2A):c.-27C>T single nucleotide variant not specified [RCV000429917] Chr6:145735525 [GRCh38]
Chr6:146056661 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.718+19C>G single nucleotide variant Progressive myoclonic epilepsy [RCV002061385]|not specified [RCV000444403] Chr6:145635226 [GRCh38]
Chr6:145956362 [GRCh37]
Chr6:6q24.3		 benign
NM_005670.4(EPM2A):c.736C>T (p.Pro246Ser) single nucleotide variant Inborn genetic diseases [RCV002379287]|Progressive myoclonic epilepsy [RCV001064529]|not provided [RCV000437395] Chr6:145627676 [GRCh38]
Chr6:145948812 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) single nucleotide variant Lafora disease [RCV005252890]|Progressive myoclonic epilepsy [RCV000638315]|not provided [RCV000437398] Chr6:145635468 [GRCh38]
Chr6:145956604 [GRCh37]
Chr6:6q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1 copy number loss See cases [RCV000448815] Chr6:144075695..152337005 [GRCh37]
Chr6:6q24.2-25.1		 pathogenic
NM_005670.4(EPM2A):c.848A>G (p.Tyr283Cys) single nucleotide variant Progressive myoclonic epilepsy [RCV000460130] Chr6:145627564 [GRCh38]
Chr6:145948700 [GRCh37]
Chr6:6q24.3		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_005670.4(EPM2A):c.67G>C (p.Val23Leu) single nucleotide variant Progressive myoclonic epilepsy [RCV000474751] Chr6:145735432 [GRCh38]
Chr6:146056568 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.466_469dup (p.Tyr157fs) duplication Progressive myoclonic epilepsy [RCV003746527]|not provided [RCV000483237] Chr6:145686128..145686129 [GRCh38]
Chr6:146007264..146007265 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter) single nucleotide variant Lafora disease [RCV001782962]|Myoclonic epilepsy of Lafora 1 [RCV005355932]|Progressive myoclonic epilepsy [RCV001851161]|not provided [RCV000485511] Chr6:145735336 [GRCh38]
Chr6:146056472 [GRCh37]
Chr6:6q24.3		 pathogenic|likely pathogenic
NC_000006.12:g.(?_145686102)_(145686316_?)del deletion Progressive myoclonic epilepsy [RCV000554485] Chr6:145686102..145686316 [GRCh38]
Chr6:146007238..146007452 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.681C>T (p.Ala227=) single nucleotide variant Inborn genetic diseases [RCV002318566]|Progressive myoclonic epilepsy [RCV000461850]|not provided [RCV001704580] Chr6:145635282 [GRCh38]
Chr6:145956418 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.345C>T (p.Asn115=) single nucleotide variant Inborn genetic diseases [RCV002318565]|Progressive myoclonic epilepsy [RCV000476998] Chr6:145686253 [GRCh38]
Chr6:146007389 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val) single nucleotide variant Inborn genetic diseases [RCV002383827]|Myoclonic epilepsy of Lafora 1 [RCV005400450]|Progressive myoclonic epilepsy [RCV000473835]|Seizure [RCV000781972]|not provided [RCV000727516]|not specified [RCV000518301] Chr6:145627669 [GRCh38]
Chr6:145948805 [GRCh37]
Chr6:6q24.3		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_005670.4(EPM2A):c.815G>A (p.Arg272His) single nucleotide variant Progressive myoclonic epilepsy [RCV000793406]|not provided [RCV000766646]|not specified [RCV000493798] Chr6:145627597 [GRCh38]
Chr6:145948733 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs) indel Lafora disease [RCV002481561]|not provided [RCV000494100] Chr6:145627653 [GRCh38]
Chr6:145948789 [GRCh37]
Chr6:6q24.3		 likely pathogenic
GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1 copy number loss See cases [RCV000510942] Chr6:139513020..150389231 [GRCh37]
Chr6:6q24.1-25.1		 pathogenic
NM_005670.4(EPM2A):c.632C>T (p.Pro211Leu) single nucleotide variant Inborn genetic diseases [RCV002360782]|Lafora disease [RCV005253079]|Progressive myoclonic epilepsy [RCV000698596] Chr6:145635331 [GRCh38]
Chr6:145956467 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.524A>G (p.His175Arg) single nucleotide variant Lafora disease [RCV000768207]|Progressive myoclonic epilepsy [RCV001205326] Chr6:145635439 [GRCh38]
Chr6:145956575 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.719-2A>T single nucleotide variant Progressive myoclonic epilepsy [RCV000638313] Chr6:145627695 [GRCh38]
Chr6:145948831 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.323G>A (p.Arg108His) single nucleotide variant Progressive myoclonic epilepsy [RCV000638314]|not provided [RCV003238795] Chr6:145686275 [GRCh38]
Chr6:146007411 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.701C>A (p.Pro234Gln) single nucleotide variant Progressive myoclonic epilepsy [RCV000638320] Chr6:145635262 [GRCh38]
Chr6:145956398 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.706A>G (p.Met236Val) single nucleotide variant Progressive myoclonic epilepsy [RCV000638321]|not provided [RCV004723009] Chr6:145635257 [GRCh38]
Chr6:145956393 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.*1691G>A single nucleotide variant Cataract [RCV000626727] Chr6:145625725 [GRCh38]
Chr6:145946861 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu) single nucleotide variant Lafora disease [RCV005252956]|Progressive myoclonic epilepsy [RCV000556253]|not provided [RCV001563435] Chr6:145627667 [GRCh38]
Chr6:145948803 [GRCh37]
Chr6:6q24.3		 pathogenic|likely pathogenic|uncertain significance
NM_005670.4(EPM2A):c.75G>C (p.Ser25=) single nucleotide variant not specified [RCV000608123] Chr6:145735424 [GRCh38]
Chr6:146056560 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.162G>A (p.Leu54=) single nucleotide variant Progressive myoclonic epilepsy [RCV002064128]|not specified [RCV000614019] Chr6:145735337 [GRCh38]
Chr6:146056473 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.726A>G (p.Val242=) single nucleotide variant Progressive myoclonic epilepsy [RCV000931130]|not specified [RCV000611301] Chr6:145627686 [GRCh38]
Chr6:145948822 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.975T>C (p.Arg325=) single nucleotide variant Progressive myoclonic epilepsy [RCV000558098] Chr6:145627437 [GRCh38]
Chr6:145948573 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.102G>C (p.Pro34=) single nucleotide variant Progressive myoclonic epilepsy [RCV003746551]|not specified [RCV000611701] Chr6:145735397 [GRCh38]
Chr6:146056533 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.102G>A (p.Pro34=) single nucleotide variant Progressive myoclonic epilepsy [RCV001396550]|not specified [RCV000612047] Chr6:145735397 [GRCh38]
Chr6:146056533 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.150G>A (p.Gly50=) single nucleotide variant Progressive myoclonic epilepsy [RCV005056309]|not specified [RCV000603764] Chr6:145735349 [GRCh38]
Chr6:146056485 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.903G>A (p.Pro301=) single nucleotide variant Progressive myoclonic epilepsy [RCV001432743]|not specified [RCV000599862] Chr6:145627509 [GRCh38]
Chr6:145948645 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.302-17A>G single nucleotide variant Progressive myoclonic epilepsy [RCV002060834]|not provided [RCV000675703] Chr6:145686313 [GRCh38]
Chr6:146007449 [GRCh37]
Chr6:6q24.3		 likely benign
GRCh37/hg19 6q24.2-25.1(chr6:144947731-150266155)x1 copy number loss not provided [RCV000682729] Chr6:144947731..150266155 [GRCh37]
Chr6:6q24.2-25.1		 pathogenic
NM_005670.4(EPM2A):c.94T>A (p.Trp32Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV000686981] Chr6:145735405 [GRCh38]
Chr6:146056541 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.427A>G (p.Thr143Ala) single nucleotide variant Progressive myoclonic epilepsy [RCV000687512] Chr6:145686171 [GRCh38]
Chr6:146007307 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.490A>G (p.Ile164Val) single nucleotide variant Inborn genetic diseases [RCV002317915]|Progressive myoclonic epilepsy [RCV000688022]|not provided [RCV000991960] Chr6:145635473 [GRCh38]
Chr6:145956609 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.92G>A (p.Arg31His) single nucleotide variant Progressive myoclonic epilepsy [RCV000691775] Chr6:145735407 [GRCh38]
Chr6:146056543 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.43G>A (p.Gly15Ser) single nucleotide variant Inborn genetic diseases [RCV002314433]|Progressive myoclonic epilepsy [RCV001862027] Chr6:145735456 [GRCh38]
Chr6:146056592 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.272G>A (p.Arg91Gln) single nucleotide variant Progressive myoclonic epilepsy [RCV000703701] Chr6:145735227 [GRCh38]
Chr6:146056363 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.634A>G (p.Met212Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001861965]|not provided [RCV000711613] Chr6:145635329 [GRCh38]
Chr6:145956465 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.731T>G (p.Met244Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV000694363] Chr6:145627681 [GRCh38]
Chr6:145948817 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.332C>G (p.Thr111Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV000691857] Chr6:145686266 [GRCh38]
Chr6:146007402 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.631C>A (p.Pro211Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV000697182] Chr6:145635332 [GRCh38]
Chr6:145956468 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.595G>T (p.Val199Leu) single nucleotide variant Inborn genetic diseases [RCV002313543]|Progressive myoclonic epilepsy [RCV001040507]|not provided [RCV004768609] Chr6:145635368 [GRCh38]
Chr6:145956504 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.190G>A (p.Val64Met) single nucleotide variant Inborn genetic diseases [RCV002317536]|Progressive myoclonic epilepsy [RCV001301450]|not provided [RCV001592923] Chr6:145735309 [GRCh38]
Chr6:146056445 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.761C>T (p.Ala254Val) single nucleotide variant Inborn genetic diseases [RCV002318272]|Progressive myoclonic epilepsy [RCV001337731]|not provided [RCV003480804] Chr6:145627651 [GRCh38]
Chr6:145948787 [GRCh37]
Chr6:6q24.3		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q24.3(chr6:145900874-146225619)x1 copy number loss not provided [RCV000746091] Chr6:145900874..146225619 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile) single nucleotide variant Lafora disease [RCV005253662]|Myoclonic epilepsy, progressive, X-linked [RCV000987798]|Progressive myoclonic epilepsy [RCV002549688] Chr6:145635403 [GRCh38]
Chr6:145956539 [GRCh37]
Chr6:6q24.3		 likely pathogenic|uncertain significance
NM_005670.4(EPM2A):c.118C>T (p.Leu40=) single nucleotide variant Progressive myoclonic epilepsy [RCV000869461] Chr6:145735381 [GRCh38]
Chr6:146056517 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.476+7A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000867163] Chr6:145686115 [GRCh38]
Chr6:146007251 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.802G>A (p.Ala268Thr) single nucleotide variant Lafora disease [RCV005253699]|Progressive myoclonic epilepsy [RCV001058191] Chr6:145627610 [GRCh38]
Chr6:145948746 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.53C>A (p.Pro18Gln) single nucleotide variant Progressive myoclonic epilepsy [RCV001059905] Chr6:145735446 [GRCh38]
Chr6:146056582 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.437A>T (p.Tyr146Phe) single nucleotide variant Progressive myoclonic epilepsy [RCV001060241] Chr6:145686161 [GRCh38]
Chr6:146007297 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.352G>A (p.Val118Met) single nucleotide variant Inborn genetic diseases [RCV002451172]|Progressive myoclonic epilepsy [RCV001044332] Chr6:145686246 [GRCh38]
Chr6:146007382 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.34G>A (p.Ala12Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV001046453] Chr6:145735465 [GRCh38]
Chr6:146056601 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.65T>A (p.Val22Glu) single nucleotide variant Progressive myoclonic epilepsy [RCV001069608] Chr6:145735434 [GRCh38]
Chr6:146056570 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.797G>C (p.Cys266Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV001067984] Chr6:145627615 [GRCh38]
Chr6:145948751 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.973C>T (p.Arg325Cys) single nucleotide variant Progressive myoclonic epilepsy [RCV001054592] Chr6:145627439 [GRCh38]
Chr6:145948575 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.477-13A>G single nucleotide variant Progressive myoclonic epilepsy [RCV002067442]|not provided [RCV000827251] Chr6:145635499 [GRCh38]
Chr6:145956635 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.4_39del (p.Arg2_Val13del) deletion Progressive myoclonic epilepsy [RCV000809771] Chr6:145735460..145735495 [GRCh38]
Chr6:146056596..146056631 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.201G>A (p.Ala67=) single nucleotide variant Progressive myoclonic epilepsy [RCV000919615] Chr6:145735298 [GRCh38]
Chr6:146056434 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.564T>G (p.Ala188=) single nucleotide variant Progressive myoclonic epilepsy [RCV000980982] Chr6:145635399 [GRCh38]
Chr6:145956535 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.918C>T (p.Asp306=) single nucleotide variant Progressive myoclonic epilepsy [RCV000862911] Chr6:145627494 [GRCh38]
Chr6:145948630 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.31C>T (p.Pro11Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV000815938] Chr6:145735468 [GRCh38]
Chr6:146056604 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.927C>G (p.Ala309=) single nucleotide variant Progressive myoclonic epilepsy [RCV003746556]|not provided [RCV000828026] Chr6:145627485 [GRCh38]
Chr6:145948621 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.304A>G (p.Asn102Asp) single nucleotide variant Inborn genetic diseases [RCV004973007]|Progressive myoclonic epilepsy [RCV000817764]|not provided [RCV002272370] Chr6:145686294 [GRCh38]
Chr6:146007430 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.477-215G>A single nucleotide variant not provided [RCV000836442] Chr6:145635701 [GRCh38]
Chr6:145956837 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys) single nucleotide variant Inborn genetic diseases [RCV002372319]|Progressive myoclonic epilepsy [RCV000818269]|not provided [RCV000991961] Chr6:145627493 [GRCh38]
Chr6:145948629 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.986G>A (p.Cys329Tyr) single nucleotide variant Progressive myoclonic epilepsy [RCV000795946] Chr6:145627426 [GRCh38]
Chr6:145948562 [GRCh37]
Chr6:6q24.3		 uncertain significance
NC_000006.12:g.(?_145625675)_(145735518_?)del deletion Progressive myoclonic epilepsy [RCV000810675] Chr6:145625675..145735518 [GRCh38]
Chr6:145946811..146056654 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.814C>T (p.Arg272Cys) single nucleotide variant Inborn genetic diseases [RCV002416284]|Lafora disease [RCV005253672]|Progressive myoclonic epilepsy [RCV001237085]|not provided [RCV000998695] Chr6:145627598 [GRCh38]
Chr6:145948734 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.206_207delinsGC (p.Glu69Gly) indel Progressive myoclonic epilepsy [RCV000823447] Chr6:145735292..145735293 [GRCh38]
Chr6:146056428..146056429 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.3(EPM2A):c.-655G>A single nucleotide variant not provided [RCV000826907] Chr6:145736153 [GRCh38]
Chr6:146057289 [GRCh37]
Chr6:6q24.3		 benign
NM_005670.3(EPM2A):c.-214A>G single nucleotide variant not provided [RCV000829891] Chr6:145735712 [GRCh38]
Chr6:146056848 [GRCh37]
Chr6:6q24.3		 benign
NM_005670.4(EPM2A):c.495G>T (p.Trp165Cys) single nucleotide variant Progressive myoclonic epilepsy [RCV000810440] Chr6:145635468 [GRCh38]
Chr6:145956604 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.758A>T (p.His253Leu) single nucleotide variant Inborn genetic diseases [RCV002388420]|Lafora disease [RCV005253127]|Progressive myoclonic epilepsy [RCV000793437] Chr6:145627654 [GRCh38]
Chr6:145948790 [GRCh37]
Chr6:6q24.3		 likely pathogenic|uncertain significance
NM_005670.3(EPM2A):c.-583C>G single nucleotide variant not provided [RCV000828652] Chr6:145736081 [GRCh38]
Chr6:146057217 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.476+151A>T single nucleotide variant not provided [RCV000837268] Chr6:145685971 [GRCh38]
Chr6:146007107 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.888C>G (p.Leu296=) single nucleotide variant not provided [RCV000895791] Chr6:145627524 [GRCh38]
Chr6:145948660 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.105C>G (p.Arg35=) single nucleotide variant Progressive myoclonic epilepsy [RCV000918651]|not provided [RCV004705916] Chr6:145735394 [GRCh38]
Chr6:146056530 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.3(EPM2A):c.-167C>T single nucleotide variant not provided [RCV000829892] Chr6:145735665 [GRCh38]
Chr6:146056801 [GRCh37]
Chr6:6q24.3		 benign
NM_005670.4(EPM2A):c.476+92C>T single nucleotide variant not provided [RCV000829893] Chr6:145686030 [GRCh38]
Chr6:146007166 [GRCh37]
Chr6:6q24.3		 benign
NM_005670.4(EPM2A):c.704A>G (p.Asp235Gly) single nucleotide variant not provided [RCV000998696] Chr6:145635259 [GRCh38]
Chr6:145956395 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.547G>A (p.Glu183Lys) single nucleotide variant not provided [RCV000998697] Chr6:145635416 [GRCh38]
Chr6:145956552 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.259A>G (p.Lys87Glu) single nucleotide variant not provided [RCV000998698] Chr6:145735240 [GRCh38]
Chr6:146056376 [GRCh37]
Chr6:6q24.3		 likely pathogenic
NM_005670.4(EPM2A):c.715G>A (p.Glu239Lys) single nucleotide variant Progressive myoclonic epilepsy [RCV001223160] Chr6:145635248 [GRCh38]
Chr6:145956384 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.770A>G (p.Glu257Gly) single nucleotide variant Progressive myoclonic epilepsy [RCV001212262] Chr6:145627642 [GRCh38]
Chr6:145948778 [GRCh37]
Chr6:6q24.3		 uncertain significance
GRCh37/hg19 6q24.3(chr6:145822991-145989428)x1 copy number loss not provided [RCV001005855] Chr6:145822991..145989428 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.275A>G (p.Glu92Gly) single nucleotide variant Progressive myoclonic epilepsy [RCV001211469] Chr6:145735224 [GRCh38]
Chr6:146056360 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.149G>T (p.Gly50Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001222428] Chr6:145735350 [GRCh38]
Chr6:146056486 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.636G>A (p.Met212Ile) single nucleotide variant Progressive myoclonic epilepsy [RCV001210061] Chr6:145635327 [GRCh38]
Chr6:145956463 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.271C>T (p.Arg91Trp) single nucleotide variant Progressive myoclonic epilepsy [RCV001218886] Chr6:145735228 [GRCh38]
Chr6:146056364 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.499G>C (p.Gly167Arg) single nucleotide variant Lafora disease [RCV001197514] Chr6:145635464 [GRCh38]
Chr6:145956600 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.448G>T (p.Ala150Ser) single nucleotide variant Inborn genetic diseases [RCV003246668] Chr6:145686150 [GRCh38]
Chr6:146007286 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.135del (p.Ala46fs) deletion Myoclonic epilepsy of Lafora 1 [RCV004776538] Chr6:145735364 [GRCh38]
Chr6:146056500 [GRCh37]
Chr6:6q24.3		 likely pathogenic
NM_005670.4(EPM2A):c.289C>G (p.Leu97Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001218492] Chr6:145735210 [GRCh38]
Chr6:146056346 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.16G>C (p.Gly6Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV001223731] Chr6:145735483 [GRCh38]
Chr6:146056619 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.26T>C (p.Val9Ala) single nucleotide variant Inborn genetic diseases [RCV003291246] Chr6:145735473 [GRCh38]
Chr6:146056609 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.957G>C (p.Gln319His) single nucleotide variant Progressive myoclonic epilepsy [RCV003106478] Chr6:145627455 [GRCh38]
Chr6:145948591 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.3(EPM2A):c.-47G>A single nucleotide variant not provided [RCV001715586] Chr6:145735545 [GRCh38]
Chr6:146056681 [GRCh37]
Chr6:6q24.3		 benign
NM_005670.4(EPM2A):c.*1472G>A single nucleotide variant not provided [RCV001614753] Chr6:145625944 [GRCh38]
Chr6:145947080 [GRCh37]
Chr6:6q24.3		 benign
NM_005670.4(EPM2A):c.477-171C>G single nucleotide variant not provided [RCV001636373] Chr6:145635657 [GRCh38]
Chr6:145956793 [GRCh37]
Chr6:6q24.3		 benign
NM_005670.4(EPM2A):c.*1970T>C single nucleotide variant not provided [RCV001561700] Chr6:145625446 [GRCh38]
Chr6:145946582 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.*1688AG[1] microsatellite not provided [RCV001563043] Chr6:145625725..145625726 [GRCh38]
Chr6:145946861..145946862 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.302-133T>A single nucleotide variant not provided [RCV001559515] Chr6:145686429 [GRCh38]
Chr6:146007565 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.301+88_301+96del microsatellite not provided [RCV001588114] Chr6:145735102..145735110 [GRCh38]
Chr6:146056238..146056246 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.936G>A (p.Arg312=) single nucleotide variant Progressive myoclonic epilepsy [RCV000887623] Chr6:145627476 [GRCh38]
Chr6:145948612 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.108T>G (p.Gly36=) single nucleotide variant Progressive myoclonic epilepsy [RCV000910834]|not provided [RCV004705909] Chr6:145735391 [GRCh38]
Chr6:146056527 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.707T>C (p.Met236Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV001216130] Chr6:145635256 [GRCh38]
Chr6:145956392 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys) single nucleotide variant Lafora disease [RCV005253685]|Progressive myoclonic epilepsy [RCV001035776] Chr6:145627577 [GRCh38]
Chr6:145948713 [GRCh37]
Chr6:6q24.3		 pathogenic|likely pathogenic
NM_005670.4(EPM2A):c.449C>T (p.Ala150Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001209639] Chr6:145686149 [GRCh38]
Chr6:146007285 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.82G>A (p.Glu28Lys) single nucleotide variant Inborn genetic diseases [RCV002429902]|Lafora disease [RCV005253738]|Progressive myoclonic epilepsy [RCV001212699] Chr6:145735417 [GRCh38]
Chr6:146056553 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.262T>C (p.Phe88Leu) single nucleotide variant Lafora disease [RCV005253741]|Progressive myoclonic epilepsy [RCV001213368] Chr6:145735237 [GRCh38]
Chr6:146056373 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.721C>G (p.Arg241Gly) single nucleotide variant Progressive myoclonic epilepsy [RCV001213399] Chr6:145627691 [GRCh38]
Chr6:145948827 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.164A>C (p.Gln55Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV001062053]|not provided [RCV003480942] Chr6:145735335 [GRCh38]
Chr6:146056471 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs) microsatellite Lafora disease [RCV005253750]|Progressive myoclonic epilepsy [RCV001226642] Chr6:145686233..145686234 [GRCh38]
Chr6:146007369..146007370 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.69G>T (p.Val23=) single nucleotide variant Progressive myoclonic epilepsy [RCV001487599] Chr6:145735430 [GRCh38]
Chr6:146056566 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.252C>T (p.Phe84=) single nucleotide variant Progressive myoclonic epilepsy [RCV001483395] Chr6:145735247 [GRCh38]
Chr6:146056383 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.719-324T>C single nucleotide variant not provided [RCV001550608] Chr6:145628017 [GRCh38]
Chr6:145949153 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.476+35A>T single nucleotide variant not provided [RCV001713492] Chr6:145686087 [GRCh38]
Chr6:146007223 [GRCh37]
Chr6:6q24.3		 benign
NM_005670.4(EPM2A):c.*163T>G single nucleotide variant not provided [RCV001716712] Chr6:145627253 [GRCh38]
Chr6:145948389 [GRCh37]
Chr6:6q24.3		 benign
NM_005670.4(EPM2A):c.505T>C (p.Cys169Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV001046932] Chr6:145635458 [GRCh38]
Chr6:145956594 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.269_275del (p.Lys90fs) deletion Lafora disease [RCV005253722]|not provided [RCV001092450] Chr6:145735224..145735230 [GRCh38]
Chr6:146056360..146056366 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.112_153dup (p.Val38_Ala51dup) duplication Progressive myoclonic epilepsy [RCV001048077] Chr6:145735345..145735346 [GRCh38]
Chr6:146056481..146056482 [GRCh37]
Chr6:6q24.3		 uncertain significance
NC_000006.12:g.(?_145625675)_(145635506_?)del deletion Progressive myoclonic epilepsy [RCV001031500] Chr6:145946811..145956642 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.*172A>G single nucleotide variant not provided [RCV001587082] Chr6:145627244 [GRCh38]
Chr6:145948380 [GRCh37]
Chr6:6q24.3		 likely benign
NC_000006.12:g.145736169del deletion not provided [RCV001567260] Chr6:145736164 [GRCh38]
Chr6:146057300 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.101C>A (p.Pro34Gln) single nucleotide variant Progressive myoclonic epilepsy [RCV001236015] Chr6:145735398 [GRCh38]
Chr6:146056534 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.118del (p.Arg39_Leu40insTer) deletion Lafora disease [RCV005253753]|Progressive myoclonic epilepsy [RCV001228808]|not provided [RCV003234007] Chr6:145735381 [GRCh38]
Chr6:146056517 [GRCh37]
Chr6:6q24.3		 pathogenic|likely pathogenic
NM_005670.4(EPM2A):c.278C>T (p.Pro93Leu) single nucleotide variant Inborn genetic diseases [RCV002436939]|Progressive myoclonic epilepsy [RCV001238734] Chr6:145735221 [GRCh38]
Chr6:146056357 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.977C>T (p.Ser326Phe) single nucleotide variant Progressive myoclonic epilepsy [RCV001212942] Chr6:145627435 [GRCh38]
Chr6:145948571 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter) single nucleotide variant Progressive myoclonic epilepsy [RCV001068906] Chr6:145735425 [GRCh38]
Chr6:146056561 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.452G>A (p.Gly151Asp) single nucleotide variant Progressive myoclonic epilepsy [RCV001211239] Chr6:145686146 [GRCh38]
Chr6:146007282 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.619C>T (p.Arg207Cys) single nucleotide variant Progressive myoclonic epilepsy [RCV001235200] Chr6:145635344 [GRCh38]
Chr6:145956480 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.226G>C (p.Ala76Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV001213947]|not provided [RCV001751395] Chr6:145735273 [GRCh38]
Chr6:146056409 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.794A>G (p.His265Arg) single nucleotide variant Lafora disease [RCV005253811]|Progressive myoclonic epilepsy [RCV001352138] Chr6:145627618 [GRCh38]
Chr6:145948754 [GRCh37]
Chr6:6q24.3		 pathogenic|likely pathogenic|uncertain significance
NM_005670.4(EPM2A):c.464T>C (p.Met155Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV001315942] Chr6:145686134 [GRCh38]
Chr6:146007270 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.290T>G (p.Leu97Arg) single nucleotide variant Lafora disease [RCV005253794]|Myoclonic epilepsy of Lafora 1 [RCV004793406]|not provided [RCV001311744] Chr6:145735209 [GRCh38]
Chr6:146056345 [GRCh37]
Chr6:6q24.3		 likely pathogenic|uncertain significance
NM_005670.4(EPM2A):c.158C>T (p.Ala53Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001339581] Chr6:145735341 [GRCh38]
Chr6:146056477 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.215C>T (p.Ala72Val) single nucleotide variant Myoclonic epilepsy of Lafora 1 [RCV005400501]|Progressive myoclonic epilepsy [RCV001318897] Chr6:145735284 [GRCh38]
Chr6:146056420 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.145G>A (p.Asp49Asn) single nucleotide variant Progressive myoclonic epilepsy [RCV001315148] Chr6:145735354 [GRCh38]
Chr6:146056490 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.235G>T (p.Gly79Cys) single nucleotide variant Progressive myoclonic epilepsy [RCV001337686] Chr6:145735264 [GRCh38]
Chr6:146056400 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.441T>C (p.Phe147=) single nucleotide variant Progressive myoclonic epilepsy [RCV001422230] Chr6:145686157 [GRCh38]
Chr6:146007293 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.301+5T>G single nucleotide variant Inborn genetic diseases [RCV002438827]|Progressive myoclonic epilepsy [RCV001358992] Chr6:145735193 [GRCh38]
Chr6:146056329 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.36C>T (p.Ala12=) single nucleotide variant Progressive myoclonic epilepsy [RCV001433546] Chr6:145735463 [GRCh38]
Chr6:146056599 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.824C>T (p.Ala275Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001337724]|not provided [RCV004719139] Chr6:145627588 [GRCh38]
Chr6:145948724 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.406A>G (p.Thr136Ala) single nucleotide variant Progressive myoclonic epilepsy [RCV001344626] Chr6:145686192 [GRCh38]
Chr6:146007328 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.222C>G (p.Asp74Glu) single nucleotide variant Progressive myoclonic epilepsy [RCV001340492] Chr6:145735277 [GRCh38]
Chr6:146056413 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.901C>A (p.Pro301Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV001342014] Chr6:145627511 [GRCh38]
Chr6:145948647 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.49C>G (p.Arg17Gly) single nucleotide variant Progressive myoclonic epilepsy [RCV001309956] Chr6:145735450 [GRCh38]
Chr6:146056586 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.338A>G (p.Asn113Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV001372446]|not provided [RCV001581106] Chr6:145686260 [GRCh38]
Chr6:146007396 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.511C>T (p.Arg171Cys) single nucleotide variant Progressive myoclonic epilepsy [RCV001309003] Chr6:145635452 [GRCh38]
Chr6:145956588 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.212C>A (p.Ala71Glu) single nucleotide variant Inborn genetic diseases [RCV004619658]|Progressive myoclonic epilepsy [RCV001350651] Chr6:145735287 [GRCh38]
Chr6:146056423 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.9C>T (p.Phe3=) single nucleotide variant Progressive myoclonic epilepsy [RCV001421694] Chr6:145735490 [GRCh38]
Chr6:146056626 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.37G>A (p.Val13Met) single nucleotide variant Progressive myoclonic epilepsy [RCV001366776] Chr6:145735462 [GRCh38]
Chr6:146056598 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.476+5A>G single nucleotide variant Progressive myoclonic epilepsy [RCV001367123] Chr6:145686117 [GRCh38]
Chr6:146007253 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.214G>A (p.Ala72Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV001365323] Chr6:145735285 [GRCh38]
Chr6:146056421 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.784G>A (p.Val262Met) single nucleotide variant Progressive myoclonic epilepsy [RCV001318935] Chr6:145627628 [GRCh38]
Chr6:145948764 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.211_231dup (p.Ala71_Glu77dup) duplication Progressive myoclonic epilepsy [RCV001367457] Chr6:145735267..145735268 [GRCh38]
Chr6:146056403..146056404 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.845A>G (p.Gln282Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV001365465] Chr6:145627567 [GRCh38]
Chr6:145948703 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.924G>A (p.Glu308=) single nucleotide variant Progressive myoclonic epilepsy [RCV001395106] Chr6:145627488 [GRCh38]
Chr6:145948624 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.745G>A (p.Val249Met) single nucleotide variant Lafora disease [RCV001421037] Chr6:145627667 [GRCh38]
Chr6:145948803 [GRCh37]
Chr6:6q24.3		 likely pathogenic|uncertain significance
NM_005670.4(EPM2A):c.348C>T (p.Asn116=) single nucleotide variant Inborn genetic diseases [RCV002456890]|Progressive myoclonic epilepsy [RCV001496496] Chr6:145686250 [GRCh38]
Chr6:146007386 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.714C>G (p.Thr238=) single nucleotide variant Progressive myoclonic epilepsy [RCV001506427] Chr6:145635249 [GRCh38]
Chr6:145956385 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.546T>C (p.His182=) single nucleotide variant Inborn genetic diseases [RCV002350875]|Progressive myoclonic epilepsy [RCV001441877] Chr6:145635417 [GRCh38]
Chr6:145956553 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.261G>A (p.Lys87=) single nucleotide variant Progressive myoclonic epilepsy [RCV001476684] Chr6:145735238 [GRCh38]
Chr6:146056374 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.684_685del (p.Ile229fs) deletion Lafora disease [RCV001781046] Chr6:145635278..145635279 [GRCh38]
Chr6:145956414..145956415 [GRCh37]
Chr6:6q24.3		 likely pathogenic
NM_005670.4(EPM2A):c.237C>T (p.Gly79=) single nucleotide variant Progressive myoclonic epilepsy [RCV001460550] Chr6:145735262 [GRCh38]
Chr6:146056398 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.159_160delinsGT (p.Ala53_Leu54=) indel Progressive myoclonic epilepsy [RCV001467689] Chr6:145735339..145735340 [GRCh38]
Chr6:146056475..146056476 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.48C>A (p.Ala16=) single nucleotide variant Progressive myoclonic epilepsy [RCV001393836] Chr6:145735451 [GRCh38]
Chr6:146056587 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.*1639C>T single nucleotide variant not provided [RCV001609026] Chr6:145625777 [GRCh38]
Chr6:145946913 [GRCh37]
Chr6:6q24.3		 benign
NM_005670.4(EPM2A):c.302-7G>A single nucleotide variant Progressive myoclonic epilepsy [RCV001404857] Chr6:145686303 [GRCh38]
Chr6:146007439 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.171G>A (p.Pro57=) single nucleotide variant Progressive myoclonic epilepsy [RCV001436534] Chr6:145735328 [GRCh38]
Chr6:146056464 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.111C>T (p.Ala37=) single nucleotide variant Progressive myoclonic epilepsy [RCV001404967]|not provided [RCV001570174] Chr6:145735388 [GRCh38]
Chr6:146056524 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.279G>A (p.Pro93=) single nucleotide variant Progressive myoclonic epilepsy [RCV001430978] Chr6:145735220 [GRCh38]
Chr6:146056356 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.666G>A (p.Arg222=) single nucleotide variant Progressive myoclonic epilepsy [RCV001444533] Chr6:145635297 [GRCh38]
Chr6:145956433 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.252C>G (p.Phe84Leu) single nucleotide variant Progressive myoclonic epilepsy [RCV001379905] Chr6:145735247 [GRCh38]
Chr6:146056383 [GRCh37]
Chr6:6q24.3		 likely pathogenic
NM_005670.4(EPM2A):c.774G>A (p.Lys258=) single nucleotide variant Progressive myoclonic epilepsy [RCV001403968] Chr6:145627638 [GRCh38]
Chr6:145948774 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.807G>A (p.Gly269=) single nucleotide variant Progressive myoclonic epilepsy [RCV001404145] Chr6:145627605 [GRCh38]
Chr6:145948741 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.156G>A (p.Leu52=) single nucleotide variant Progressive myoclonic epilepsy [RCV001416547] Chr6:145735343 [GRCh38]
Chr6:146056479 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.984G>T (p.Val328=) single nucleotide variant Progressive myoclonic epilepsy [RCV001450888] Chr6:145627428 [GRCh38]
Chr6:145948564 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.18G>A (p.Gly6=) single nucleotide variant Progressive myoclonic epilepsy [RCV001473641]|not provided [RCV001647296] Chr6:145735481 [GRCh38]
Chr6:146056617 [GRCh37]
Chr6:6q24.3		 benign|likely benign
NM_005670.4(EPM2A):c.603T>C (p.Asn201=) single nucleotide variant Progressive myoclonic epilepsy [RCV001486449] Chr6:145635360 [GRCh38]
Chr6:145956496 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.894C>T (p.Ala298=) single nucleotide variant Progressive myoclonic epilepsy [RCV001462479] Chr6:145627518 [GRCh38]
Chr6:145948654 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.204C>A (p.Ala68=) single nucleotide variant Progressive myoclonic epilepsy [RCV001476685] Chr6:145735295 [GRCh38]
Chr6:146056431 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.813C>T (p.Gly271=) single nucleotide variant Progressive myoclonic epilepsy [RCV001477593] Chr6:145627599 [GRCh38]
Chr6:145948735 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.302-2A>G single nucleotide variant Lafora disease [RCV005253828]|Progressive myoclonic epilepsy [RCV001380053] Chr6:145686298 [GRCh38]
Chr6:146007434 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.834C>T (p.Cys278=) single nucleotide variant Progressive myoclonic epilepsy [RCV001476639] Chr6:145627578 [GRCh38]
Chr6:145948714 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs) deletion Lafora disease [RCV003447596]|Progressive myoclonic epilepsy [RCV001389133] Chr6:145735360..145735391 [GRCh38]
Chr6:146056496..146056527 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.85C>G (p.Leu29Val) single nucleotide variant Lafora disease [RCV005253826]|Progressive myoclonic epilepsy [RCV001379553] Chr6:145735414 [GRCh38]
Chr6:146056550 [GRCh37]
Chr6:6q24.3		 likely pathogenic|uncertain significance
NM_005670.4(EPM2A):c.45C>A (p.Gly15=) single nucleotide variant Progressive myoclonic epilepsy [RCV001484040] Chr6:145735454 [GRCh38]
Chr6:146056590 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.989G>T (p.Ser330Ile) single nucleotide variant not provided [RCV001767840] Chr6:145627423 [GRCh38]
Chr6:145948559 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.496C>G (p.Leu166Val) single nucleotide variant Progressive myoclonic epilepsy [RCV002540488]|not provided [RCV001769186] Chr6:145635467 [GRCh38]
Chr6:145956603 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.322del (p.Arg108fs) deletion Lafora disease [RCV001783202] Chr6:145686276 [GRCh38]
Chr6:146007412 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.488A>C (p.Asn163Thr) single nucleotide variant not provided [RCV001757233] Chr6:145635475 [GRCh38]
Chr6:145956611 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.847T>A (p.Tyr283Asn) single nucleotide variant not provided [RCV001758398] Chr6:145627565 [GRCh38]
Chr6:145948701 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.690G>A (p.Trp230Ter) single nucleotide variant Abnormality of the nervous system [RCV001814452] Chr6:145635273 [GRCh38]
Chr6:145956409 [GRCh37]
Chr6:6q24.3		 likely pathogenic
NM_005670.4(EPM2A):c.59T>A (p.Leu20Gln) single nucleotide variant Progressive myoclonic epilepsy [RCV002043961] Chr6:145735440 [GRCh38]
Chr6:146056576 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.397A>G (p.Thr133Ala) single nucleotide variant Progressive myoclonic epilepsy [RCV001896393]|not provided [RCV004774510] Chr6:145686201 [GRCh38]
Chr6:146007337 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.793_794insTGCCCACC (p.His265fs) insertion Progressive myoclonic epilepsy [RCV002024769] Chr6:145627618..145627619 [GRCh38]
Chr6:145948754..145948755 [GRCh37]
Chr6:6q24.3		 likely pathogenic
GRCh37/hg19 6q24.3(chr6:145831293-145989428) copy number loss not specified [RCV002053635] Chr6:145831293..145989428 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.447T>G (p.Ile149Met) single nucleotide variant Progressive myoclonic epilepsy [RCV001988182] Chr6:145686151 [GRCh38]
Chr6:146007287 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.934C>T (p.Arg312Trp) single nucleotide variant Inborn genetic diseases [RCV002370381]|Progressive myoclonic epilepsy [RCV001894369] Chr6:145627478 [GRCh38]
Chr6:145948614 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.166G>C (p.Glu56Gln) single nucleotide variant Progressive myoclonic epilepsy [RCV002009364] Chr6:145735333 [GRCh38]
Chr6:146056469 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.477-15A>G single nucleotide variant Progressive myoclonic epilepsy [RCV001909430] Chr6:145635501 [GRCh38]
Chr6:145956637 [GRCh37]
Chr6:6q24.3		 likely benign|uncertain significance
NM_005670.4(EPM2A):c.64G>C (p.Val22Leu) single nucleotide variant Progressive myoclonic epilepsy [RCV001928053] Chr6:145735435 [GRCh38]
Chr6:146056571 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.436T>C (p.Tyr146His) single nucleotide variant Progressive myoclonic epilepsy [RCV001889791] Chr6:145686162 [GRCh38]
Chr6:146007298 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.141G>A (p.Ala47=) single nucleotide variant Progressive myoclonic epilepsy [RCV002040346] Chr6:145735358 [GRCh38]
Chr6:146056494 [GRCh37]
Chr6:6q24.3		 likely benign|uncertain significance
NM_005670.4(EPM2A):c.305A>G (p.Asn102Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV001948044] Chr6:145686293 [GRCh38]
Chr6:146007429 [GRCh37]
Chr6:6q24.3		 uncertain significance
NC_000006.11:g.(?_146056334)_(146056634_?)del deletion Progressive myoclonic epilepsy [RCV001946794] Chr6:146056334..146056634 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.767T>C (p.Leu256Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV002042792] Chr6:145627645 [GRCh38]
Chr6:145948781 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.301+1G>T single nucleotide variant Lafora disease [RCV005254015]|Progressive myoclonic epilepsy [RCV002043132]|not provided [RCV003126092] Chr6:145735197 [GRCh38]
Chr6:146056333 [GRCh37]
Chr6:6q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 6q24.2-24.3(chr6:145449900-148319443) copy number gain not specified [RCV002053634] Chr6:145449900..148319443 [GRCh37]
Chr6:6q24.2-24.3		 uncertain significance
NM_005670.4(EPM2A):c.92_124del (p.Arg31_Arg41del) deletion Progressive myoclonic epilepsy [RCV002002751] Chr6:145735375..145735407 [GRCh38]
Chr6:146056511..146056543 [GRCh37]
Chr6:6q24.3		 pathogenic|likely pathogenic
NM_005670.4(EPM2A):c.37G>C (p.Val13Leu) single nucleotide variant Progressive myoclonic epilepsy [RCV002003033] Chr6:145735462 [GRCh38]
Chr6:146056598 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.55G>A (p.Glu19Lys) single nucleotide variant Progressive myoclonic epilepsy [RCV001945364] Chr6:145735444 [GRCh38]
Chr6:146056580 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.181C>G (p.Leu61Val) single nucleotide variant Progressive myoclonic epilepsy [RCV002038264] Chr6:145735318 [GRCh38]
Chr6:146056454 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.249G>A (p.Thr83=) single nucleotide variant Progressive myoclonic epilepsy [RCV001958086] Chr6:145735250 [GRCh38]
Chr6:146056386 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.758A>G (p.His253Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV002039116] Chr6:145627654 [GRCh38]
Chr6:145948790 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.223G>A (p.Gly75Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV001881025] Chr6:145735276 [GRCh38]
Chr6:146056412 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.937G>A (p.Ala313Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV001941491] Chr6:145627475 [GRCh38]
Chr6:145948611 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.935G>A (p.Arg312Gln) single nucleotide variant Progressive myoclonic epilepsy [RCV002038394] Chr6:145627477 [GRCh38]
Chr6:145948613 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.302-1G>C single nucleotide variant Lafora disease [RCV002246579]|Progressive myoclonic epilepsy [RCV001882329] Chr6:145686297 [GRCh38]
Chr6:146007433 [GRCh37]
Chr6:6q24.3		 pathogenic|likely pathogenic
NM_005670.4(EPM2A):c.560C>G (p.Thr187Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV001974257] Chr6:145635403 [GRCh38]
Chr6:145956539 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.962T>G (p.Phe321Cys) single nucleotide variant Lafora disease [RCV005253955]|Progressive myoclonic epilepsy [RCV002014612] Chr6:145627450 [GRCh38]
Chr6:145948586 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.800A>G (p.Asn267Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV001899581] Chr6:145627612 [GRCh38]
Chr6:145948748 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.841C>T (p.Leu281Phe) single nucleotide variant Progressive myoclonic epilepsy [RCV001867780] Chr6:145627571 [GRCh38]
Chr6:145948707 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.676T>G (p.Leu226Val) single nucleotide variant Inborn genetic diseases [RCV004044136]|Progressive myoclonic epilepsy [RCV001919279] Chr6:145635287 [GRCh38]
Chr6:145956423 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.575T>C (p.Phe192Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV001902013] Chr6:145635388 [GRCh38]
Chr6:145956524 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.14T>G (p.Phe5Cys) single nucleotide variant Progressive myoclonic epilepsy [RCV001919669]|not provided [RCV002292678] Chr6:145735485 [GRCh38]
Chr6:146056621 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.934dup (p.Arg312fs) duplication Progressive myoclonic epilepsy [RCV001960562] Chr6:145627477..145627478 [GRCh38]
Chr6:145948613..145948614 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.22G>A (p.Val8Met) single nucleotide variant Progressive myoclonic epilepsy [RCV001937564] Chr6:145735477 [GRCh38]
Chr6:146056613 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.539T>C (p.Leu180Pro) single nucleotide variant Lafora disease [RCV005254007]|Progressive myoclonic epilepsy [RCV001991916] Chr6:145635424 [GRCh38]
Chr6:145956560 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.981T>G (p.Ser327=) single nucleotide variant Progressive myoclonic epilepsy [RCV001900100] Chr6:145627431 [GRCh38]
Chr6:145948567 [GRCh37]
Chr6:6q24.3		 likely benign|uncertain significance
NM_005670.4(EPM2A):c.258C>G (p.Tyr86Ter) single nucleotide variant Lafora disease [RCV005253959]|Progressive myoclonic epilepsy [RCV002035390] Chr6:145735241 [GRCh38]
Chr6:146056377 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.651G>A (p.Met217Ile) single nucleotide variant Progressive myoclonic epilepsy [RCV001907369] Chr6:145635312 [GRCh38]
Chr6:145956448 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.248C>T (p.Thr83Met) single nucleotide variant Progressive myoclonic epilepsy [RCV001917460] Chr6:145735251 [GRCh38]
Chr6:146056387 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.394G>T (p.Ala132Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV002050374] Chr6:145686204 [GRCh38]
Chr6:146007340 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.217C>G (p.Gln73Glu) single nucleotide variant Progressive myoclonic epilepsy [RCV001994241] Chr6:145735282 [GRCh38]
Chr6:146056418 [GRCh37]
Chr6:6q24.3		 uncertain significance
NC_000006.11:g.(?_145948552)_(145956642_?)del deletion Progressive myoclonic epilepsy [RCV001959006] Chr6:145948552..145956642 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.970G>T (p.Val324Phe) single nucleotide variant Progressive myoclonic epilepsy [RCV001924120] Chr6:145627442 [GRCh38]
Chr6:145948578 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.169C>A (p.Pro57Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV001979784] Chr6:145735330 [GRCh38]
Chr6:146056466 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.759_760insATGCA (p.Ala254fs) insertion Progressive myoclonic epilepsy [RCV001940330] Chr6:145627652..145627653 [GRCh38]
Chr6:145948788..145948789 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.86T>C (p.Leu29Pro) single nucleotide variant Inborn genetic diseases [RCV002562127]|Progressive myoclonic epilepsy [RCV001957672] Chr6:145735413 [GRCh38]
Chr6:146056549 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.281G>A (p.Gly94Glu) single nucleotide variant Progressive myoclonic epilepsy [RCV001881546] Chr6:145735218 [GRCh38]
Chr6:146056354 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.335A>G (p.Tyr112Cys) single nucleotide variant Progressive myoclonic epilepsy [RCV001996203] Chr6:145686263 [GRCh38]
Chr6:146007399 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.70G>T (p.Gly24Trp) single nucleotide variant Progressive myoclonic epilepsy [RCV001917070] Chr6:145735429 [GRCh38]
Chr6:146056565 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.276G>A (p.Glu92=) single nucleotide variant Progressive myoclonic epilepsy [RCV002074865] Chr6:145735223 [GRCh38]
Chr6:146056359 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.876G>T (p.Val292=) single nucleotide variant Progressive myoclonic epilepsy [RCV002086140] Chr6:145627536 [GRCh38]
Chr6:145948672 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.301+11C>G single nucleotide variant Progressive myoclonic epilepsy [RCV002126562] Chr6:145735187 [GRCh38]
Chr6:146056323 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.42C>G (p.Ala14=) single nucleotide variant Progressive myoclonic epilepsy [RCV002131345] Chr6:145735457 [GRCh38]
Chr6:146056593 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.120G>A (p.Leu40=) single nucleotide variant Progressive myoclonic epilepsy [RCV002152995] Chr6:145735379 [GRCh38]
Chr6:146056515 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.301+16del deletion Progressive myoclonic epilepsy [RCV002113621] Chr6:145735182 [GRCh38]
Chr6:146056318 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.719-5C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002211826] Chr6:145627698 [GRCh38]
Chr6:145948834 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.302-4C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002150062] Chr6:145686300 [GRCh38]
Chr6:146007436 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.477-14T>C single nucleotide variant Progressive myoclonic epilepsy [RCV002095312] Chr6:145635500 [GRCh38]
Chr6:145956636 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.302-20A>T single nucleotide variant Progressive myoclonic epilepsy [RCV002171478] Chr6:145686316 [GRCh38]
Chr6:146007452 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.234G>A (p.Pro78=) single nucleotide variant Progressive myoclonic epilepsy [RCV002092620] Chr6:145735265 [GRCh38]
Chr6:146056401 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.768G>A (p.Leu256=) single nucleotide variant Progressive myoclonic epilepsy [RCV002079968] Chr6:145627644 [GRCh38]
Chr6:145948780 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.360T>C (p.Gly120=) single nucleotide variant Progressive myoclonic epilepsy [RCV002193219] Chr6:145686238 [GRCh38]
Chr6:146007374 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.61C>T (p.Leu21=) single nucleotide variant Progressive myoclonic epilepsy [RCV002194120] Chr6:145735438 [GRCh38]
Chr6:146056574 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.302-12T>C single nucleotide variant Progressive myoclonic epilepsy [RCV002094175] Chr6:145686308 [GRCh38]
Chr6:146007444 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.301+16G>A single nucleotide variant Progressive myoclonic epilepsy [RCV002211963] Chr6:145735182 [GRCh38]
Chr6:146056318 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.759T>C (p.His253=) single nucleotide variant Progressive myoclonic epilepsy [RCV002218495] Chr6:145627653 [GRCh38]
Chr6:145948789 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.714C>T (p.Thr238=) single nucleotide variant EPM2A-related disorder [RCV004758219]|Progressive myoclonic epilepsy [RCV002120440] Chr6:145635249 [GRCh38]
Chr6:145956385 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.58C>T (p.Leu20=) single nucleotide variant Progressive myoclonic epilepsy [RCV002220336] Chr6:145735441 [GRCh38]
Chr6:146056577 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.525T>C (p.His175=) single nucleotide variant Progressive myoclonic epilepsy [RCV002144562] Chr6:145635438 [GRCh38]
Chr6:145956574 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.154C>T (p.Leu52=) single nucleotide variant Progressive myoclonic epilepsy [RCV002160753] Chr6:145735345 [GRCh38]
Chr6:146056481 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.246C>T (p.Asp82=) single nucleotide variant Progressive myoclonic epilepsy [RCV002135647] Chr6:145735253 [GRCh38]
Chr6:146056389 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.333T>C (p.Thr111=) single nucleotide variant Progressive myoclonic epilepsy [RCV002200533] Chr6:145686265 [GRCh38]
Chr6:146007401 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.377T>C (p.Ile126Thr) single nucleotide variant Lafora disease [RCV005254957]|Myoclonic epilepsy of Lafora 1 [RCV004785754] Chr6:145686221 [GRCh38]
Chr6:146007357 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.38T>C (p.Val13Ala) single nucleotide variant Inborn genetic diseases [RCV002366405] Chr6:145735461 [GRCh38]
Chr6:146056597 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.98_121del (p.Glu33_Arg41delinsGly) deletion not provided [RCV002293158] Chr6:145735378..145735401 [GRCh38]
Chr6:146056514..146056537 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.553G>C (p.Gly185Arg) single nucleotide variant not provided [RCV002474329] Chr6:145635410 [GRCh38]
Chr6:145956546 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.788_792delinsCCCTTCTGCCCAC (p.Tyr263fs) indel Inborn genetic diseases [RCV002412322] Chr6:145627620..145627624 [GRCh38]
Chr6:145948756..145948760 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.248C>A (p.Thr83Lys) single nucleotide variant Inborn genetic diseases [RCV003295743] Chr6:145735251 [GRCh38]
Chr6:146056387 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.347A>G (p.Asn116Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV002305039] Chr6:145686251 [GRCh38]
Chr6:146007387 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.874G>T (p.Val292Leu) single nucleotide variant Progressive myoclonic epilepsy [RCV002299056] Chr6:145627538 [GRCh38]
Chr6:145948674 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.716A>T (p.Glu239Val) single nucleotide variant Inborn genetic diseases [RCV002378382]|Progressive myoclonic epilepsy [RCV003098485] Chr6:145635247 [GRCh38]
Chr6:145956383 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.120G>C (p.Leu40=) single nucleotide variant EPM2A-related disorder [RCV003916455]|Inborn genetic diseases [RCV002353273]|Progressive myoclonic epilepsy [RCV005096854] Chr6:145735379 [GRCh38]
Chr6:146056515 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.783C>T (p.Ile261=) single nucleotide variant Inborn genetic diseases [RCV002412157]|Progressive myoclonic epilepsy [RCV003583208] Chr6:145627629 [GRCh38]
Chr6:145948765 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.788_791dup (p.His265fs) duplication Inborn genetic diseases [RCV002412321] Chr6:145627620..145627621 [GRCh38]
Chr6:145948756..145948757 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.407C>A (p.Thr136Asn) single nucleotide variant Inborn genetic diseases [RCV002323096] Chr6:145686191 [GRCh38]
Chr6:146007327 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.130G>A (p.Gly44Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV002295737] Chr6:145735369 [GRCh38]
Chr6:146056505 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.500G>A (p.Gly167Asp) single nucleotide variant Inborn genetic diseases [RCV002343095] Chr6:145635463 [GRCh38]
Chr6:145956599 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.369T>C (p.Cys123=) single nucleotide variant Inborn genetic diseases [RCV002353008] Chr6:145686229 [GRCh38]
Chr6:146007365 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.138G>C (p.Ala46=) single nucleotide variant Inborn genetic diseases [RCV002396649] Chr6:145735361 [GRCh38]
Chr6:146056497 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.258C>T (p.Tyr86=) single nucleotide variant Progressive myoclonic epilepsy [RCV002681310] Chr6:145735241 [GRCh38]
Chr6:146056377 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.789C>G (p.Tyr263Ter) single nucleotide variant Lafora disease [RCV002510672] Chr6:145627623 [GRCh38]
Chr6:145948759 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.58C>G (p.Leu20Val) single nucleotide variant Progressive myoclonic epilepsy [RCV002838292] Chr6:145735441 [GRCh38]
Chr6:146056577 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.159C>A (p.Ala53=) single nucleotide variant Progressive myoclonic epilepsy [RCV002795113] Chr6:145735340 [GRCh38]
Chr6:146056476 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.301+2T>C single nucleotide variant Progressive myoclonic epilepsy [RCV002866125] Chr6:145735196 [GRCh38]
Chr6:146056332 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.639T>C (p.Thr213=) single nucleotide variant Progressive myoclonic epilepsy [RCV002971771] Chr6:145635324 [GRCh38]
Chr6:145956460 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter) single nucleotide variant Lafora disease [RCV003129592]|Progressive myoclonic epilepsy [RCV003746657] Chr6:145735320 [GRCh38]
Chr6:146056456 [GRCh37]
Chr6:6q24.3		 pathogenic|likely pathogenic
NM_005670.4(EPM2A):c.117C>T (p.Arg39=) single nucleotide variant Progressive myoclonic epilepsy [RCV002640518] Chr6:145735382 [GRCh38]
Chr6:146056518 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.133A>C (p.Thr45Pro) single nucleotide variant EPM2A-related disorder [RCV003918998]|Inborn genetic diseases [RCV002738790] Chr6:145735366 [GRCh38]
Chr6:146056502 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.256T>G (p.Tyr86Asp) single nucleotide variant Progressive myoclonic epilepsy [RCV003037197] Chr6:145735243 [GRCh38]
Chr6:146056379 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.155T>G (p.Leu52Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV002820236] Chr6:145735344 [GRCh38]
Chr6:146056480 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.148G>T (p.Gly50Trp) single nucleotide variant Inborn genetic diseases [RCV002913479]|Progressive myoclonic epilepsy [RCV002913480] Chr6:145735351 [GRCh38]
Chr6:146056487 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter) single nucleotide variant Lafora disease [RCV003988883]|Progressive myoclonic epilepsy [RCV002824395] Chr6:145735201 [GRCh38]
Chr6:146056337 [GRCh37]
Chr6:6q24.3		 pathogenic|uncertain significance
NM_005670.4(EPM2A):c.96G>A (p.Trp32Ter) single nucleotide variant Progressive myoclonic epilepsy [RCV002847744] Chr6:145735403 [GRCh38]
Chr6:146056539 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.126G>T (p.Pro42=) single nucleotide variant Progressive myoclonic epilepsy [RCV003054623] Chr6:145735373 [GRCh38]
Chr6:146056509 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.171G>C (p.Pro57=) single nucleotide variant Progressive myoclonic epilepsy [RCV003081984] Chr6:145735328 [GRCh38]
Chr6:146056464 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.568A>G (p.Met190Val) single nucleotide variant Progressive myoclonic epilepsy [RCV002933436] Chr6:145635395 [GRCh38]
Chr6:145956531 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.477-19C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002933459] Chr6:145635505 [GRCh38]
Chr6:145956641 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.911A>G (p.Tyr304Cys) single nucleotide variant Progressive myoclonic epilepsy [RCV002745637] Chr6:145627501 [GRCh38]
Chr6:145948637 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.161T>C (p.Leu54Pro) single nucleotide variant Inborn genetic diseases [RCV002803900] Chr6:145735338 [GRCh38]
Chr6:146056474 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.425C>T (p.Thr142Ile) single nucleotide variant Inborn genetic diseases [RCV002874168] Chr6:145686173 [GRCh38]
Chr6:146007309 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.994_*12del (p.Ter332del) deletion Progressive myoclonic epilepsy [RCV003059071] Chr6:145627404..145627418 [GRCh38]
Chr6:145948540..145948554 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.513T>C (p.Arg171=) single nucleotide variant Progressive myoclonic epilepsy [RCV002791235] Chr6:145635450 [GRCh38]
Chr6:145956586 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.101C>T (p.Pro34Leu) single nucleotide variant Progressive myoclonic epilepsy [RCV003023124] Chr6:145735398 [GRCh38]
Chr6:146056534 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.158_159inv (p.Ala53Gly) inversion Progressive myoclonic epilepsy [RCV003006193] Chr6:145735340..145735341 [GRCh38]
Chr6:146056476..146056477 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.942A>G (p.Gln314=) single nucleotide variant Progressive myoclonic epilepsy [RCV002721135] Chr6:145627470 [GRCh38]
Chr6:145948606 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.125C>T (p.Pro42Leu) single nucleotide variant Progressive myoclonic epilepsy [RCV002720928] Chr6:145735374 [GRCh38]
Chr6:146056510 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.790G>A (p.Val264Met) single nucleotide variant Progressive myoclonic epilepsy [RCV002629426] Chr6:145627622 [GRCh38]
Chr6:145948758 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.11G>A (p.Arg4His) single nucleotide variant Progressive myoclonic epilepsy [RCV003089502] Chr6:145735488 [GRCh38]
Chr6:146056624 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.194_214dup (p.Ala71_Ala72insGluLeuAlaAlaGluGluAla) duplication Progressive myoclonic epilepsy [RCV002647066] Chr6:145735284..145735285 [GRCh38]
Chr6:146056420..146056421 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.267G>A (p.Leu89=) single nucleotide variant Progressive myoclonic epilepsy [RCV003091672]|not provided [RCV004725521] Chr6:145735232 [GRCh38]
Chr6:146056368 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.118C>A (p.Leu40Met) single nucleotide variant Progressive myoclonic epilepsy [RCV002856095] Chr6:145735381 [GRCh38]
Chr6:146056517 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.476+19T>G single nucleotide variant Progressive myoclonic epilepsy [RCV002582620] Chr6:145686103 [GRCh38]
Chr6:146007239 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.424A>G (p.Thr142Ala) single nucleotide variant Progressive myoclonic epilepsy [RCV002655022] Chr6:145686174 [GRCh38]
Chr6:146007310 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.501T>C (p.Gly167=) single nucleotide variant Progressive myoclonic epilepsy [RCV003032025] Chr6:145635462 [GRCh38]
Chr6:145956598 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.4C>A (p.Arg2Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV002584329] Chr6:145735495 [GRCh38]
Chr6:146056631 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.896A>C (p.Lys299Thr) single nucleotide variant Inborn genetic diseases [RCV003282440] Chr6:145627516 [GRCh38]
Chr6:145948652 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.122G>T (p.Arg41Met) single nucleotide variant not provided [RCV003325836] Chr6:145735377 [GRCh38]
Chr6:146056513 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.476G>A (p.Arg159Lys) single nucleotide variant Lafora disease [RCV003337862] Chr6:145686122 [GRCh38]
Chr6:146007258 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.30A>G (p.Pro10=) single nucleotide variant Progressive myoclonic epilepsy [RCV003874466] Chr6:145735469 [GRCh38]
Chr6:146056605 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.906T>C (p.Ala302=) single nucleotide variant Progressive myoclonic epilepsy [RCV005062674] Chr6:145627506 [GRCh38]
Chr6:145948642 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.528A>G (p.Val176=) single nucleotide variant Progressive myoclonic epilepsy [RCV005170219] Chr6:145635435 [GRCh38]
Chr6:145956571 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.558T>C (p.Ile186=) single nucleotide variant Progressive myoclonic epilepsy [RCV003583240] Chr6:145635405 [GRCh38]
Chr6:145956541 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.719-8del deletion Progressive myoclonic epilepsy [RCV003583286] Chr6:145627701 [GRCh38]
Chr6:145948837 [GRCh37]
Chr6:6q24.3		 benign
NM_005670.4(EPM2A):c.301+20G>A single nucleotide variant Progressive myoclonic epilepsy [RCV003836024] Chr6:145735178 [GRCh38]
Chr6:146056314 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.861G>A (p.Trp287Ter) single nucleotide variant Progressive myoclonic epilepsy [RCV003583622] Chr6:145627551 [GRCh38]
Chr6:145948687 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.243G>C (p.Val81=) single nucleotide variant Progressive myoclonic epilepsy [RCV003583338] Chr6:145735256 [GRCh38]
Chr6:146056392 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.39G>T (p.Val13=) single nucleotide variant Progressive myoclonic epilepsy [RCV003583397] Chr6:145735460 [GRCh38]
Chr6:146056596 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.81C>T (p.Pro27=) single nucleotide variant Progressive myoclonic epilepsy [RCV003583590] Chr6:145735418 [GRCh38]
Chr6:146056554 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.789C>T (p.Tyr263=) single nucleotide variant Progressive myoclonic epilepsy [RCV003816163] Chr6:145627623 [GRCh38]
Chr6:145948759 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.177G>A (p.Leu59=) single nucleotide variant Progressive myoclonic epilepsy [RCV003811884] Chr6:145735322 [GRCh38]
Chr6:146056458 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.69G>A (p.Val23=) single nucleotide variant Progressive myoclonic epilepsy [RCV003583694] Chr6:145735430 [GRCh38]
Chr6:146056566 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.168G>A (p.Glu56=) single nucleotide variant Progressive myoclonic epilepsy [RCV003823310] Chr6:145735331 [GRCh38]
Chr6:146056467 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.411T>C (p.Asn137=) single nucleotide variant Progressive myoclonic epilepsy [RCV003842601] Chr6:145686187 [GRCh38]
Chr6:146007323 [GRCh37]
Chr6:6q24.3		 likely benign
GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3 copy number gain not specified [RCV003986631] Chr6:119840686..156623091 [GRCh37]
Chr6:6q22.31-25.3		 pathogenic
NM_005670.4(EPM2A):c.698C>T (p.Thr233Ile) single nucleotide variant Inborn genetic diseases [RCV004621859]|Progressive myoclonic epilepsy [RCV003746359] Chr6:145635265 [GRCh38]
Chr6:145956401 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.270G>A (p.Lys90=) single nucleotide variant Progressive myoclonic epilepsy [RCV003746388] Chr6:145735229 [GRCh38]
Chr6:146056365 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.301+14A>G single nucleotide variant Progressive myoclonic epilepsy [RCV003746996] Chr6:145735184 [GRCh38]
Chr6:146056320 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.719-15C>T single nucleotide variant Progressive myoclonic epilepsy [RCV003747074] Chr6:145627708 [GRCh38]
Chr6:145948844 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.792G>A (p.Val264=) single nucleotide variant Progressive myoclonic epilepsy [RCV003747622] Chr6:145627620 [GRCh38]
Chr6:145948756 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.159C>T (p.Ala53=) single nucleotide variant Progressive myoclonic epilepsy [RCV003747685] Chr6:145735340 [GRCh38]
Chr6:146056476 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.201G>T (p.Ala67=) single nucleotide variant Progressive myoclonic epilepsy [RCV003747192] Chr6:145735298 [GRCh38]
Chr6:146056434 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.777A>G (p.Gly259=) single nucleotide variant Progressive myoclonic epilepsy [RCV003747546] Chr6:145627635 [GRCh38]
Chr6:145948771 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.298_299delinsTT (p.Glu100Leu) indel Progressive myoclonic epilepsy [RCV003746952] Chr6:145735200..145735201 [GRCh38]
Chr6:146056336..146056337 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.291C>T (p.Leu97=) single nucleotide variant Progressive myoclonic epilepsy [RCV003865501] Chr6:145735208 [GRCh38]
Chr6:146056344 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.81C>G (p.Pro27=) single nucleotide variant Progressive myoclonic epilepsy [RCV003823633] Chr6:145735418 [GRCh38]
Chr6:146056554 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.*1731G>A single nucleotide variant EPM2A-related disorder [RCV003964092] Chr6:145625685 [GRCh38]
Chr6:145946821 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.263T>A (p.Phe88Tyr) single nucleotide variant Myoclonic epilepsy of Lafora 1 [RCV003990560] Chr6:145735236 [GRCh38]
Chr6:146056372 [GRCh37]
Chr6:6q24.3		 likely pathogenic
NM_005670.4(EPM2A):c.177del (p.Trp60fs) deletion Myoclonic epilepsy of Lafora 1 [RCV003990684] Chr6:145735322 [GRCh38]
Chr6:146056458 [GRCh37]
Chr6:6q24.3		 likely pathogenic
NM_005670.4(EPM2A):c.*1704G>A single nucleotide variant not provided [RCV004547128] Chr6:145625712 [GRCh38]
Chr6:145946848 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.82_154del (p.Glu28fs) deletion Myoclonic epilepsy of Lafora 1 [RCV004547321] Chr6:145735345..145735417 [GRCh38]
Chr6:146056481..146056553 [GRCh37]
Chr6:6q24.3		 likely pathogenic
NC_000006.12:g.145501856A>G single nucleotide variant not specified [RCV004595441] Chr6:145501856 [GRCh38]
Chr6:145822992 [GRCh37]
Chr6:6q24.3		 benign
NC_000006.12:g.145384164G>A single nucleotide variant not specified [RCV004595445] Chr6:145384164 [GRCh38]
Chr6:145705300 [GRCh37]
Chr6:6q24.3		 benign
NC_000006.12:g.145502506G>A single nucleotide variant not specified [RCV004595446] Chr6:145502506 [GRCh38]
Chr6:145823642 [GRCh37]
Chr6:6q24.3		 benign
NM_005670.4(EPM2A):c.806G>A (p.Gly269Glu) single nucleotide variant Inborn genetic diseases [RCV004620632] Chr6:145627606 [GRCh38]
Chr6:145948742 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.301+1G>C single nucleotide variant Myoclonic epilepsy of Lafora 1 [RCV004701243] Chr6:145735197 [GRCh38]
Chr6:146056333 [GRCh37]
Chr6:6q24.3		 likely pathogenic
NM_005670.4(EPM2A):c.280G>A (p.Gly94Arg) single nucleotide variant Inborn genetic diseases [RCV004981977] Chr6:145735219 [GRCh38]
Chr6:146056355 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.244G>A (p.Asp82Asn) single nucleotide variant Inborn genetic diseases [RCV004981978] Chr6:145735255 [GRCh38]
Chr6:146056391 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.320A>G (p.Asp107Gly) single nucleotide variant Inborn genetic diseases [RCV004981979] Chr6:145686278 [GRCh38]
Chr6:146007414 [GRCh37]
Chr6:6q24.3		 uncertain significance
GRCh37/hg19 6q24.2-27(chr6:144561123-170919482)x3 copy number gain not provided [RCV004819303] Chr6:144561123..170919482 [GRCh37]
Chr6:6q24.2-27		 pathogenic
NM_005670.4(EPM2A):c.249G>C (p.Thr83=) single nucleotide variant Progressive myoclonic epilepsy [RCV005195587] Chr6:145735250 [GRCh38]
Chr6:146056386 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.342A>G (p.Glu114=) single nucleotide variant Progressive myoclonic epilepsy [RCV005162782] Chr6:145686256 [GRCh38]
Chr6:146007392 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.477-6C>T single nucleotide variant Progressive myoclonic epilepsy [RCV005126663] Chr6:145635492 [GRCh38]
Chr6:145956628 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.438T>C (p.Tyr146=) single nucleotide variant Progressive myoclonic epilepsy [RCV005130490] Chr6:145686160 [GRCh38]
Chr6:146007296 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.576C>T (p.Phe192=) single nucleotide variant Progressive myoclonic epilepsy [RCV005144763] Chr6:145635387 [GRCh38]
Chr6:145956523 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.301+16G>C single nucleotide variant Progressive myoclonic epilepsy [RCV005160667] Chr6:145735182 [GRCh38]
Chr6:146056318 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.216G>A (p.Ala72=) single nucleotide variant Progressive myoclonic epilepsy [RCV005161110] Chr6:145735283 [GRCh38]
Chr6:146056419 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.476+15A>G single nucleotide variant Progressive myoclonic epilepsy [RCV005076887] Chr6:145686107 [GRCh38]
Chr6:146007243 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.126G>A (p.Pro42=) single nucleotide variant Progressive myoclonic epilepsy [RCV005071579] Chr6:145735373 [GRCh38]
Chr6:146056509 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.719-7A>C single nucleotide variant Progressive myoclonic epilepsy [RCV005083758] Chr6:145627700 [GRCh38]
Chr6:145948836 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.552G>A (p.Leu184=) single nucleotide variant Progressive myoclonic epilepsy [RCV005069310] Chr6:145635411 [GRCh38]
Chr6:145956547 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.145G>C (p.Asp49His) single nucleotide variant Progressive myoclonic epilepsy [RCV005182708] Chr6:145735354 [GRCh38]
Chr6:146056490 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.873G>A (p.Lys291=) single nucleotide variant Progressive myoclonic epilepsy [RCV005150040] Chr6:145627539 [GRCh38]
Chr6:145948675 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.363G>A (p.Val121=) single nucleotide variant Progressive myoclonic epilepsy [RCV005152360] Chr6:145686235 [GRCh38]
Chr6:146007371 [GRCh37]
Chr6:6q24.3		 likely benign
NM_005670.4(EPM2A):c.233C>G (p.Pro78Arg) single nucleotide variant Inborn genetic diseases [RCV005330407] Chr6:145735266 [GRCh38]
Chr6:146056402 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.260A>C (p.Lys87Thr) single nucleotide variant Lafora disease [RCV005255368] Chr6:145735239 [GRCh38]
Chr6:146056375 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.836G>T (p.Gly279Val) single nucleotide variant Lafora disease [RCV005255462] Chr6:145627576 [GRCh38]
Chr6:145948712 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.559A>G (p.Thr187Ala) single nucleotide variant Lafora disease [RCV005255297] Chr6:145635404 [GRCh38]
Chr6:145956540 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.272G>C (p.Arg91Pro) single nucleotide variant Lafora disease [RCV005255356] Chr6:145735227 [GRCh38]
Chr6:146056363 [GRCh37]
Chr6:6q24.3		 likely pathogenic
NM_005670.4(EPM2A):c.262T>G (p.Phe88Val) single nucleotide variant Lafora disease [RCV005255359] Chr6:145735237 [GRCh38]
Chr6:146056373 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.659T>A (p.Leu220Gln) single nucleotide variant Lafora disease [RCV005255291] Chr6:145635304 [GRCh38]
Chr6:145956440 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.784G>T (p.Val262Leu) single nucleotide variant Inborn genetic diseases [RCV005330408] Chr6:145627628 [GRCh38]
Chr6:145948764 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.43_159del (p.Gly15_Ala53del) deletion Myoclonic epilepsy of Lafora 1 [RCV005254191] Chr6:145735340..145735456 [GRCh38]
Chr6:146056476..146056592 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.718G>A (p.Gly240Ser) single nucleotide variant Lafora disease [RCV005255286] Chr6:145635245 [GRCh38]
Chr6:145956381 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.336C>A (p.Tyr112Ter) single nucleotide variant Lafora disease [RCV005255328] Chr6:145686262 [GRCh38]
Chr6:146007398 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.323G>T (p.Arg108Leu) single nucleotide variant Lafora disease [RCV005255330] Chr6:145686275 [GRCh38]
Chr6:146007411 [GRCh37]
Chr6:6q24.3		 likely pathogenic
NM_005670.4(EPM2A):c.962T>C (p.Phe321Ser) single nucleotide variant Lafora disease [RCV005255296] Chr6:145627450 [GRCh38]
Chr6:145948586 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.601A>C (p.Asn201His) single nucleotide variant Inborn genetic diseases [RCV005330409] Chr6:145635362 [GRCh38]
Chr6:145956498 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.259A>T (p.Lys87Ter) single nucleotide variant Lafora disease [RCV005255372] Chr6:145735240 [GRCh38]
Chr6:146056376 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.71G>A (p.Gly24Glu) single nucleotide variant Lafora disease [RCV005255433] Chr6:145735428 [GRCh38]
Chr6:146056564 [GRCh37]
Chr6:6q24.3		 uncertain significance
NM_005670.4(EPM2A):c.243_246del (p.Asp82fs) deletion Lafora disease [RCV005255381] Chr6:145735253..145735256 [GRCh38]
Chr6:146056389..146056392 [GRCh37]
Chr6:6q24.3		 pathogenic
NM_005670.4(EPM2A):c.222dup (p.Gly75fs) duplication Lafora disease [RCV005255386] Chr6:145735276..145735277 [GRCh38]
Chr6:146056412..146056413 [GRCh37]
Chr6:6q24.3		 likely pathogenic
NM_005670.4(EPM2A):c.301G>A (p.Gly101Ser) single nucleotide variant Lafora disease [RCV005255429] Chr6:145735198 [GRCh38]
Chr6:146056334 [GRCh37]
Chr6:6q24.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1392
Count of miRNA genes:815
Interacting mature miRNAs:924
Transcripts:ENST00000367519, ENST00000435470, ENST00000450221, ENST00000461700, ENST00000489412, ENST00000496228
Prediction methods:Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
628704248GWAS2612477_Hvaginal microbiome measurement QTL GWAS2612477 (human)0.000002vaginal microbiome measurement6145568199145568200Human
598061092GWAS1780391_Hpancreatic fat pad amount QTL GWAS1780391 (human)5e-08pancreatic fat pad amount6145730192145730193Human
406947138GWAS596114_Hheel bone mineral density QTL GWAS596114 (human)7e-09heel bone mineral density6145460605145460606Human
407174082GWAS823058_Hovarian carcinoma QTL GWAS823058 (human)0.000004ovarian carcinoma6145686276145686277Human
598083374GWAS1802673_Hbody height QTL GWAS1802673 (human)3e-18body height6145495994145495995Human
628589561GWAS2497790_Hdiet measurement, HbA1c measurement QTL GWAS2497790 (human)0.000009blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)6145509788145509789Human
616997577GWAS2015076_Hlobe attachment QTL GWAS2015076 (human)4e-52ear lobe morphology trait (VT:0003677)ear measurement (CMO:0002667)6145491235145491236Human
596991872GWAS1111391_Hheel bone mineral density QTL GWAS1111391 (human)7e-09heel bone mineral density6145460605145460606Human
628887141GWAS2795370_Hpancreatic fat pad amount QTL GWAS2795370 (human)5e-08pancreatic fat pad amount6145730192145730193Human
597984062GWAS1703361_Hplatelet volume QTL GWAS1703361 (human)1e-21platelet volume6145688001145688002Human
598054078GWAS1773377_Hbody height QTL GWAS1773377 (human)2e-17body height6145495994145495995Human
628719332GWAS2627561_Hvaginal microbiome measurement QTL GWAS2627561 (human)0.000005vaginal microbiome measurement6145568199145568200Human
628704484GWAS2612713_Hvaginal microbiome measurement QTL GWAS2612713 (human)0.000008vaginal microbiome measurement6145568199145568200Human
597439676GWAS1535750_Hlobe attachment QTL GWAS1535750 (human)4e-52lobe attachment6145491235145491236Human
597277368GWAS1373442_Hpancreas fat measurement QTL GWAS1373442 (human)5e-08pancreas fat measurement6145730192145730193Human
628928341GWAS2836570_Hbody height QTL GWAS2836570 (human)2e-17body height6145495994145495995Human
597978762GWAS1698061_Hplatelet volume QTL GWAS1698061 (human)8e-09platelet volume6145673722145673723Human
598046613GWAS1765912_Hbody height QTL GWAS1765912 (human)8e-15body height6145444796145444797Human
626455015GWAS2268948_Haspartate aminotransferase measurement QTL GWAS2268948 (human)1e-08aspartate aminotransferase measurement6145692456145692457Human
597398184GWAS1494258_Hvaginal microbiome measurement QTL GWAS1494258 (human)0.000008vaginal microbiome measurement6145568199145568200Human
597082146GWAS1178220_Hmean platelet volume QTL GWAS1178220 (human)1e-21mean platelet volume6145688001145688002Human
407257587GWAS906563_Hvaginal microbiome measurement QTL GWAS906563 (human)0.000005vaginal microbiome measurement6145568199145568200Human
597086499GWAS1182573_Hmean platelet volume QTL GWAS1182573 (human)7e-17mean platelet volume6145688001145688002Human
628781378GWAS2689607_Hovarian carcinoma QTL GWAS2689607 (human)0.000004ovarian carcinoma6145686276145686277Human
597598754GWAS1655614_Hbody height QTL GWAS1655614 (human)3e-50body height6145495994145495995Human
597398183GWAS1494257_Hvaginal microbiome measurement QTL GWAS1494257 (human)0.000002vaginal microbiome measurement6145568199145568200Human
597438880GWAS1534954_Hinterleukin 17 measurement QTL GWAS1534954 (human)0.000004blood interleukin-17 amount (VT:0008613)6145572897145572898Human
407319416GWAS968392_Hpancreas fat measurement QTL GWAS968392 (human)5e-08pancreas fat measurement6145730192145730193Human
598051045GWAS1770344_Hbody height QTL GWAS1770344 (human)3e-17body height6145495994145495995Human
629004600GWAS2912829_Hbody height QTL GWAS2912829 (human)8e-15body height6145444796145444797Human
626454687GWAS2268620_Hserum alanine aminotransferase amount QTL GWAS2268620 (human)2e-08serum alanine aminotransferase amount6145687138145687139Human
628723894GWAS2632123_Hbody height QTL GWAS2632123 (human)1e-14body height6145479884145479885Human
407288087GWAS937063_Hvaginal microbiome measurement QTL GWAS937063 (human)0.000002vaginal microbiome measurement6145568199145568200Human
597076674GWAS1172748_Hlobe attachment QTL GWAS1172748 (human)2e-48ear lobe morphology trait (VT:0003677)ear measurement (CMO:0002667)6145646741145646742Human
628913188GWAS2821417_Hserum alanine aminotransferase amount QTL GWAS2821417 (human)2e-08serum alanine aminotransferase amount6145687138145687139Human
597537988GWAS1634062_Hbody height QTL GWAS1634062 (human)8e-15body height6145444796145444797Human
628950567GWAS2858796_Hbody height QTL GWAS2858796 (human)3e-18body height6145495994145495995Human
407288091GWAS937067_Hvaginal microbiome measurement QTL GWAS937067 (human)0.000008vaginal microbiome measurement6145568199145568200Human
596964854GWAS1084373_Hdiet measurement, HbA1c measurement QTL GWAS1084373 (human)0.000009diet measurement, HbA1c measurement6145509788145509789Human
597397625GWAS1493699_Hvaginal microbiome measurement QTL GWAS1493699 (human)0.000005vaginal microbiome measurement6145568199145568200Human
407019430GWAS668406_Hmean platelet volume QTL GWAS668406 (human)1e-21mean platelet volume6145688001145688002Human
407288353GWAS937329_Hbody height QTL GWAS937329 (human)8e-15body height6145444796145444797Human
598025932GWAS1745231_Hbody height QTL GWAS1745231 (human)3e-50body height6145495994145495995Human
406912171GWAS561147_Hlobe attachment QTL GWAS561147 (human)2e-48lobe attachment6145646741145646742Human
628988177GWAS2896406_Hbody height QTL GWAS2896406 (human)3e-50body height6145495994145495995Human
597247605GWAS1343679_Hovarian carcinoma QTL GWAS1343679 (human)0.000004ovarian carcinoma6145686276145686277Human
628912145GWAS2820374_Haspartate aminotransferase measurement QTL GWAS2820374 (human)1e-08blood aspartate transaminase amount (VT:0000203)blood aspartate aminotransferase activity level (CMO:0000580)6145692456145692457Human
407004850GWAS653826_Hinterleukin 17 measurement QTL GWAS653826 (human)0.000004interleukin 17 measurement6145572897145572898Human
407036464GWAS685440_Hmean platelet volume QTL GWAS685440 (human)7e-17mean platelet volume6145688001145688002Human
597579754GWAS1636614_Hbody height QTL GWAS1636614 (human)3e-17body height6145495994145495995Human
597582699GWAS1639559_Hbody height QTL GWAS1639559 (human)2e-17body height6145495994145495995Human
598018640GWAS1737939_Hplatelet volume QTL GWAS1737939 (human)7e-17platelet volume6145688001145688002Human
597368428GWAS1464502_Hheel bone mineral density QTL GWAS1464502 (human)7e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)6145460605145460606Human
625822266GWAS2243188_Hbody height QTL GWAS2243188 (human)1e-14body height6145479884145479885Human
406893497GWAS542473_Hmean platelet volume QTL GWAS542473 (human)8e-09mean platelet volume6145673722145673723Human
407141310GWAS790286_Hlobe attachment QTL GWAS790286 (human)4e-52lobe attachment6145491235145491236Human
597585891GWAS1642751_Hbody height QTL GWAS1642751 (human)3e-18body height6145495994145495995Human
597446883GWAS1542957_Hdiet measurement, HbA1c measurement QTL GWAS1542957 (human)0.000009diet measurement, HbA1c measurement6145509788145509789Human

Markers in Region
D6S1703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376146,017,895 - 146,018,051UniSTSGRCh37
Build 366146,059,588 - 146,059,744RGDNCBI36
Celera6146,758,251 - 146,758,407RGD
Cytogenetic Map6q24UniSTS
HuRef6143,581,097 - 143,581,253UniSTS
Marshfield Genetic Map6146.06RGD
Marshfield Genetic Map6146.06UniSTS
Genethon Genetic Map6147.0UniSTS
deCODE Assembly Map6147.52UniSTS
Whitehead-YAC Contig Map6 UniSTS
WI-13634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376145,946,516 - 145,946,645UniSTSGRCh37
Build 366145,988,209 - 145,988,338RGDNCBI36
Celera6146,686,876 - 146,687,005RGD
Cytogenetic Map6q24UniSTS
HuRef6143,510,076 - 143,510,205UniSTS
GeneMap99-GB4 RH Map6579.07UniSTS
Whitehead-RH Map6796.8UniSTS
D6S1443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376146,033,605 - 146,033,779UniSTSGRCh37
Build 366146,075,298 - 146,075,472RGDNCBI36
Celera6146,773,962 - 146,774,136RGD
Cytogenetic Map6q24UniSTS
HuRef6143,596,809 - 143,596,983UniSTS
Whitehead-RH Map6796.7UniSTS
AL035166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376145,983,677 - 145,983,816UniSTSGRCh37
Build 366146,025,370 - 146,025,509RGDNCBI36
Celera6146,724,030 - 146,724,169RGD
Cytogenetic Map6q24UniSTS
HuRef6143,547,229 - 143,547,368UniSTS
RH103579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376146,058,012 - 146,058,132UniSTSGRCh37
Build 366146,099,705 - 146,099,825RGDNCBI36
Celera6146,798,369 - 146,798,489RGD
Cytogenetic Map6q24UniSTS
HuRef6143,621,209 - 143,621,329UniSTS
GeneMap99-GB4 RH Map6579.58UniSTS
SHGC-83278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376145,992,146 - 145,992,492UniSTSGRCh37
Build 366146,033,839 - 146,034,185RGDNCBI36
Celera6146,732,500 - 146,732,846RGD
Cytogenetic Map6q24UniSTS
HuRef6143,555,350 - 143,555,696UniSTS
TNG Radiation Hybrid Map661685.0UniSTS
SHGC-78150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376145,992,475 - 145,992,766UniSTSGRCh37
Build 366146,034,168 - 146,034,459RGDNCBI36
Celera6146,732,829 - 146,733,120RGD
Cytogenetic Map6q24UniSTS
HuRef6143,555,679 - 143,555,970UniSTS
RH122690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376146,000,760 - 146,001,105UniSTSGRCh37
Build 366146,042,453 - 146,042,798RGDNCBI36
Celera6146,741,114 - 146,741,459RGD
Cytogenetic Map6q24UniSTS
HuRef6143,563,964 - 143,564,309UniSTS
TNG Radiation Hybrid Map661671.0UniSTS
SHGC-132306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376146,017,831 - 146,018,053UniSTSGRCh37
Build 366146,059,524 - 146,059,746RGDNCBI36
Celera6146,758,187 - 146,758,409RGD
Cytogenetic Map6q24UniSTS
HuRef6143,581,033 - 143,581,255UniSTS
TNG Radiation Hybrid Map661664.0UniSTS
SHGC-144778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376145,990,591 - 145,990,920UniSTSGRCh37
Build 366146,032,284 - 146,032,613RGDNCBI36
Celera6146,730,945 - 146,731,274RGD
Cytogenetic Map6q24UniSTS
HuRef6143,553,795 - 143,554,124UniSTS
TNG Radiation Hybrid Map661678.0UniSTS
136C6sp6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376146,004,134 - 146,004,376UniSTSGRCh37
Celera6146,744,488 - 146,744,730UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2435 2788 2245 4953 1724 2345 4 622 1948 464 2269 7286 6455 52 3718 849 1733 1612 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001018041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001360057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001360064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001360071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_153398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF084535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF284580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF454491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF454492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF454493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF454494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ130763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ130764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL023806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW291546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE268120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI463677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI599200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000367519   ⟹   ENSP00000356489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,625,305 - 145,735,520 (-)Ensembl
Ensembl Acc Id: ENST00000435470   ⟹   ENSP00000405913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,625,371 - 145,735,498 (-)Ensembl
Ensembl Acc Id: ENST00000450221   ⟹   ENSP00000414900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,501,583 - 145,686,219 (-)Ensembl
Ensembl Acc Id: ENST00000461700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,671,305 - 145,686,922 (-)Ensembl
Ensembl Acc Id: ENST00000489412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,635,085 - 145,671,359 (-)Ensembl
Ensembl Acc Id: ENST00000496228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,635,371 - 145,721,008 (-)Ensembl
Ensembl Acc Id: ENST00000611340   ⟹   ENSP00000480268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,625,353 - 145,736,023 (-)Ensembl
Ensembl Acc Id: ENST00000618445   ⟹   ENSP00000480339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,625,312 - 145,735,855 (-)Ensembl
Ensembl Acc Id: ENST00000638262   ⟹   ENSP00000492876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,625,491 - 145,735,498 (-)Ensembl
Ensembl Acc Id: ENST00000638554   ⟹   ENSP00000492823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,625,306 - 145,735,276 (-)Ensembl
Ensembl Acc Id: ENST00000638597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,625,996 - 145,634,682 (-)Ensembl
Ensembl Acc Id: ENST00000638717   ⟹   ENSP00000491330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,382,535 - 145,735,281 (-)Ensembl
Ensembl Acc Id: ENST00000638778   ⟹   ENSP00000491353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,627,386 - 145,686,931 (-)Ensembl
Ensembl Acc Id: ENST00000638783   ⟹   ENSP00000491338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,627,329 - 145,686,939 (-)Ensembl
Ensembl Acc Id: ENST00000639049   ⟹   ENSP00000491590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,625,304 - 145,735,470 (-)Ensembl
Ensembl Acc Id: ENST00000639106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,626,791 - 145,632,323 (-)Ensembl
Ensembl Acc Id: ENST00000639423   ⟹   ENSP00000492701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,625,304 - 145,735,986 (-)Ensembl
Ensembl Acc Id: ENST00000639465   ⟹   ENSP00000491180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,625,945 - 145,686,936 (-)Ensembl
Ensembl Acc Id: ENST00000639648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,627,442 - 145,670,411 (-)Ensembl
Ensembl Acc Id: ENST00000639649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,734,578 - 145,735,426 (-)Ensembl
Ensembl Acc Id: ENST00000639799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,625,304 - 145,721,742 (-)Ensembl
Ensembl Acc Id: ENST00000639849   ⟹   ENSP00000491224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,633,720 - 145,686,901 (-)Ensembl
Ensembl Acc Id: ENST00000639859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,626,810 - 145,641,286 (-)Ensembl
Ensembl Acc Id: ENST00000640225   ⟹   ENSP00000492179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,626,790 - 145,686,877 (-)Ensembl
Ensembl Acc Id: ENST00000640297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,635,430 - 145,735,514 (-)Ensembl
Ensembl Acc Id: ENST00000640351   ⟹   ENSP00000491251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,626,760 - 145,735,281 (-)Ensembl
Ensembl Acc Id: ENST00000640426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,671,239 - 145,686,933 (-)Ensembl
Ensembl Acc Id: ENST00000640898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,671,335 - 145,735,989 (-)Ensembl
Ensembl Acc Id: ENST00000640980   ⟹   ENSP00000491191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,627,279 - 145,735,964 (-)Ensembl
Ensembl Acc Id: ENST00000650914   ⟹   ENSP00000498790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6145,625,312 - 145,721,742 (-)Ensembl
RefSeq Acc Id: NM_001018041   ⟹   NP_001018051
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,625,305 - 145,735,520 (-)NCBI
GRCh376145,946,440 - 146,057,128 (-)NCBI
Build 366145,988,133 - 146,098,684 (-)NCBI Archive
HuRef6143,510,000 - 143,620,189 (-)ENTREZGENE
CHM1_16146,209,644 - 146,320,201 (-)NCBI
T2T-CHM13v2.06146,818,373 - 146,928,575 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001360057   ⟹   NP_001346986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,625,305 - 145,735,520 (-)NCBI
T2T-CHM13v2.06146,818,373 - 146,928,575 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001360064   ⟹   NP_001346993
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,625,305 - 145,736,023 (-)NCBI
T2T-CHM13v2.06146,818,373 - 146,929,078 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001360071   ⟹   NP_001347000
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,625,305 - 145,735,520 (-)NCBI
T2T-CHM13v2.06146,818,373 - 146,928,575 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368129   ⟹   NP_001355058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,625,305 - 145,735,520 (-)NCBI
T2T-CHM13v2.06146,818,373 - 146,928,575 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368130   ⟹   NP_001355059
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,635,080 - 145,735,520 (-)NCBI
T2T-CHM13v2.06146,828,140 - 146,928,575 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368131   ⟹   NP_001355060
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,625,305 - 145,735,520 (-)NCBI
T2T-CHM13v2.06146,818,373 - 146,928,575 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368132   ⟹   NP_001355061
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,625,305 - 145,686,877 (-)NCBI
T2T-CHM13v2.06146,818,373 - 146,879,934 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005670   ⟹   NP_005661
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,625,305 - 145,735,520 (-)NCBI
GRCh376145,946,440 - 146,057,128 (-)NCBI
Build 366145,988,133 - 146,098,684 (-)NCBI Archive
HuRef6143,510,000 - 143,620,189 (-)ENTREZGENE
CHM1_16146,209,644 - 146,320,201 (-)NCBI
T2T-CHM13v2.06146,818,373 - 146,928,575 (-)NCBI
Sequence:
RefSeq Acc Id: NR_153398
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,625,305 - 145,736,023 (-)NCBI
T2T-CHM13v2.06146,818,373 - 146,929,078 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536113   ⟹   XP_011534415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,500,743 - 145,735,520 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536116   ⟹   XP_011534418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,625,305 - 145,686,877 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011302   ⟹   XP_016866791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,625,305 - 145,674,203 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446550   ⟹   XP_024302318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,383,353 - 145,735,520 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446551   ⟹   XP_024302319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,625,305 - 145,702,473 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047419363   ⟹   XP_047275319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,631,293 - 145,735,520 (-)NCBI
RefSeq Acc Id: XM_047419364   ⟹   XP_047275320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,625,305 - 145,686,296 (-)NCBI
RefSeq Acc Id: XM_054356423   ⟹   XP_054212398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06146,818,373 - 146,956,629 (-)NCBI
RefSeq Acc Id: XM_054356424   ⟹   XP_054212399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06146,574,195 - 146,928,575 (-)NCBI
RefSeq Acc Id: XM_054356425   ⟹   XP_054212400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06146,693,861 - 146,928,575 (-)NCBI
RefSeq Acc Id: XM_054356426   ⟹   XP_054212401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06146,823,614 - 146,928,575 (-)NCBI
RefSeq Acc Id: XM_054356427   ⟹   XP_054212402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06146,818,373 - 146,879,934 (-)NCBI
RefSeq Acc Id: XM_054356428   ⟹   XP_054212403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06146,818,373 - 146,895,528 (-)NCBI
RefSeq Acc Id: XM_054356429   ⟹   XP_054212404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06146,818,373 - 146,867,262 (-)NCBI
RefSeq Acc Id: XM_054356430   ⟹   XP_054212405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06146,818,373 - 146,879,353 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001018051 (Get FASTA)   NCBI Sequence Viewer  
  NP_001346986 (Get FASTA)   NCBI Sequence Viewer  
  NP_001346993 (Get FASTA)   NCBI Sequence Viewer  
  NP_001347000 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355058 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355059 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355060 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355061 (Get FASTA)   NCBI Sequence Viewer  
  NP_005661 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534415 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534418 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866791 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302318 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302319 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275319 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275320 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212398 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212399 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212400 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212401 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212402 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212403 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212404 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212405 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC83347 (Get FASTA)   NCBI Sequence Viewer  
  AAG18377 (Get FASTA)   NCBI Sequence Viewer  
  AAH05286 (Get FASTA)   NCBI Sequence Viewer  
  AAH70047 (Get FASTA)   NCBI Sequence Viewer  
  AAO15523 (Get FASTA)   NCBI Sequence Viewer  
  AAO15524 (Get FASTA)   NCBI Sequence Viewer  
  AAO15525 (Get FASTA)   NCBI Sequence Viewer  
  AAO15526 (Get FASTA)   NCBI Sequence Viewer  
  B3EWF7 (Get FASTA)   NCBI Sequence Viewer  
  BAG51107 (Get FASTA)   NCBI Sequence Viewer  
  BAG61454 (Get FASTA)   NCBI Sequence Viewer  
  CAA10199 (Get FASTA)   NCBI Sequence Viewer  
  CAA10200 (Get FASTA)   NCBI Sequence Viewer  
  EAW47842 (Get FASTA)   NCBI Sequence Viewer  
  EAW47843 (Get FASTA)   NCBI Sequence Viewer  
  EAW47844 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000356489
  ENSP00000356489.3
  ENSP00000405913
  ENSP00000405913.2
  ENSP00000480268.1
  ENSP00000491180.1
  ENSP00000491338.1
  ENSP00000491353
  ENSP00000491353.1
  ENSP00000492701
  ENSP00000492701.1
  ENSP00000492876
  ENSP00000492876.1
GenBank Protein O95278 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001018051   ⟸   NM_001018041
- Peptide Label: isoform b
- UniProtKB: O95278 (UniProtKB/Swiss-Prot),   H0Y6I8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005661   ⟸   NM_005670
- Peptide Label: isoform a
- UniProtKB: Q9BS66 (UniProtKB/Swiss-Prot),   Q8IX25 (UniProtKB/Swiss-Prot),   Q8IX24 (UniProtKB/Swiss-Prot),   Q8IU96 (UniProtKB/Swiss-Prot),   Q6IS15 (UniProtKB/Swiss-Prot),   Q5T3F5 (UniProtKB/Swiss-Prot),   O95483 (UniProtKB/Swiss-Prot),   B4DRZ2 (UniProtKB/Swiss-Prot),   B3KMU5 (UniProtKB/Swiss-Prot),   Q9UEN2 (UniProtKB/Swiss-Prot),   O95278 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011534415   ⟸   XM_011536113
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011534418   ⟸   XM_011536116
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016866791   ⟸   XM_017011302
- Peptide Label: isoform X5
- UniProtKB: O95278 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024302318   ⟸   XM_024446550
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001346993   ⟸   NM_001360064
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001346986   ⟸   NM_001360057
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001347000   ⟸   NM_001360071
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: XP_024302319   ⟸   XM_024446551
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001355060   ⟸   NM_001368131
- Peptide Label: isoform d
RefSeq Acc Id: NP_001355058   ⟸   NM_001368129
- Peptide Label: isoform e
RefSeq Acc Id: NP_001355061   ⟸   NM_001368132
- Peptide Label: isoform e
RefSeq Acc Id: NP_001355059   ⟸   NM_001368130
- Peptide Label: isoform f
Ensembl Acc Id: ENSP00000414900   ⟸   ENST00000450221
Ensembl Acc Id: ENSP00000491330   ⟸   ENST00000638717
Ensembl Acc Id: ENSP00000491353   ⟸   ENST00000638778
Ensembl Acc Id: ENSP00000491338   ⟸   ENST00000638783
Ensembl Acc Id: ENSP00000492823   ⟸   ENST00000638554
Ensembl Acc Id: ENSP00000492876   ⟸   ENST00000638262
Ensembl Acc Id: ENSP00000491224   ⟸   ENST00000639849
Ensembl Acc Id: ENSP00000480268   ⟸   ENST00000611340
Ensembl Acc Id: ENSP00000498790   ⟸   ENST00000650914
Ensembl Acc Id: ENSP00000491590   ⟸   ENST00000639049
Ensembl Acc Id: ENSP00000491180   ⟸   ENST00000639465
Ensembl Acc Id: ENSP00000492701   ⟸   ENST00000639423
Ensembl Acc Id: ENSP00000491191   ⟸   ENST00000640980
Ensembl Acc Id: ENSP00000492179   ⟸   ENST00000640225
Ensembl Acc Id: ENSP00000491251   ⟸   ENST00000640351
Ensembl Acc Id: ENSP00000356489   ⟸   ENST00000367519
Ensembl Acc Id: ENSP00000480339   ⟸   ENST00000618445
Ensembl Acc Id: ENSP00000405913   ⟸   ENST00000435470
RefSeq Acc Id: XP_047275320   ⟸   XM_047419364
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047275319   ⟸   XM_047419363
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054212399   ⟸   XM_054356424
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054212400   ⟸   XM_054356425
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054212398   ⟸   XM_054356423
- Peptide Label: isoform X6
- UniProtKB: Q9BS66 (UniProtKB/Swiss-Prot),   Q8IX25 (UniProtKB/Swiss-Prot),   Q8IX24 (UniProtKB/Swiss-Prot),   Q8IU96 (UniProtKB/Swiss-Prot),   Q6IS15 (UniProtKB/Swiss-Prot),   Q5T3F5 (UniProtKB/Swiss-Prot),   O95483 (UniProtKB/Swiss-Prot),   O95278 (UniProtKB/Swiss-Prot),   B4DRZ2 (UniProtKB/Swiss-Prot),   B3KMU5 (UniProtKB/Swiss-Prot),   Q9UEN2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054212403   ⟸   XM_054356428
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054212402   ⟸   XM_054356427
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054212405   ⟸   XM_054356430
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054212404   ⟸   XM_054356429
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054212401   ⟸   XM_054356426
- Peptide Label: isoform X3
Protein Domains
CBM20   Tyrosine-protein phosphatase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-B3EWF7-F1-model_v2 AlphaFold B3EWF7 1-344 view protein structure

Promoters
RGD ID:7209345
Promoter ID:EPDNEW_H10418
Type:initiation region
Name:EPM2A_4
Description:EPM2A, laforin glucan phosphatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10419  EPDNEW_H10420  EPDNEW_H10421  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,735,301 - 145,735,361EPDNEW
RGD ID:7209347
Promoter ID:EPDNEW_H10419
Type:initiation region
Name:EPM2A_1
Description:EPM2A, laforin glucan phosphatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10418  EPDNEW_H10420  EPDNEW_H10421  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,735,520 - 145,735,580EPDNEW
RGD ID:7209349
Promoter ID:EPDNEW_H10420
Type:initiation region
Name:EPM2A_3
Description:EPM2A, laforin glucan phosphatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10418  EPDNEW_H10419  EPDNEW_H10421  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,735,788 - 145,735,848EPDNEW
RGD ID:7209351
Promoter ID:EPDNEW_H10421
Type:initiation region
Name:EPM2A_2
Description:EPM2A, laforin glucan phosphatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10418  EPDNEW_H10419  EPDNEW_H10420  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386145,736,021 - 145,736,081EPDNEW
RGD ID:6804030
Promoter ID:HG_KWN:55306
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000392304
Position:
Human AssemblyChrPosition (strand)Source
Build 366146,098,066 - 146,098,857 (-)MPROMDB
RGD ID:6804206
Promoter ID:HG_KWN:55307
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000324857,   NM_001018041,   OTTHUMT00000042564,   UC003QKX.1,   UC010KHR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366146,098,501 - 146,099,001 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3413 AgrOrtholog
COSMIC EPM2A COSMIC
Ensembl Genes ENSG00000112425 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000367519 ENTREZGENE
  ENST00000367519.9 UniProtKB/Swiss-Prot
  ENST00000435470 ENTREZGENE
  ENST00000435470.2 UniProtKB/Swiss-Prot
  ENST00000611340.5 UniProtKB/Swiss-Prot
  ENST00000638262 ENTREZGENE
  ENST00000638262.1 UniProtKB/Swiss-Prot
  ENST00000638778 ENTREZGENE
  ENST00000638778.1 UniProtKB/Swiss-Prot
  ENST00000638783.1 UniProtKB/Swiss-Prot
  ENST00000639423 ENTREZGENE
  ENST00000639423.1 UniProtKB/Swiss-Prot
  ENST00000639465.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
  3.90.190.10 UniProtKB/Swiss-Prot
GTEx ENSG00000112425 GTEx
HGNC ID HGNC:3413 ENTREZGENE
Human Proteome Map EPM2A Human Proteome Map
InterPro Carb-bd-like_fold UniProtKB/Swiss-Prot
  CBM20_laforin UniProtKB/Swiss-Prot
  CBM_fam20 UniProtKB/Swiss-Prot
  DSP_laforin-like UniProtKB/Swiss-Prot
  Dual-sp_phosphatase_cat-dom UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Laforin UniProtKB/Swiss-Prot
  Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot
  Tyr_Pase_AS UniProtKB/Swiss-Prot
  TYR_PHOSPHATASE_dom UniProtKB/Swiss-Prot
  TYR_PHOSPHATASE_DUAL_dom UniProtKB/Swiss-Prot
KEGG Report hsa:7957 UniProtKB/Swiss-Prot
NCBI Gene 7957 ENTREZGENE
OMIM 607566 OMIM
PANTHER LAFORIN UniProtKB/Swiss-Prot
  PTHR46864 UniProtKB/Swiss-Prot
Pfam CBM_20 UniProtKB/Swiss-Prot
  DSPc UniProtKB/Swiss-Prot
PharmGKB PA27832 PharmGKB
PROSITE CBM20 UniProtKB/Swiss-Prot
  TYR_PHOSPHATASE_1 UniProtKB/Swiss-Prot
  TYR_PHOSPHATASE_2 UniProtKB/Swiss-Prot
  TYR_PHOSPHATASE_DUAL UniProtKB/Swiss-Prot
SMART CBM_2 UniProtKB/Swiss-Prot
  DSPc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49452 UniProtKB/Swiss-Prot
  SSF52799 UniProtKB/Swiss-Prot
UniProt A0A1W2PP62_HUMAN UniProtKB/TrEMBL
  A0A1W2PPJ6_HUMAN UniProtKB/TrEMBL
  A0A1W2PPT8_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ84_HUMAN UniProtKB/TrEMBL
  A0A1W2PRC9_HUMAN UniProtKB/TrEMBL
  A0A1W2PRS5_HUMAN UniProtKB/TrEMBL
  B3EWF7 ENTREZGENE
  B3KMU5 ENTREZGENE
  B4DRZ2 ENTREZGENE
  EP2A2_HUMAN UniProtKB/Swiss-Prot
  EPM2A_HUMAN UniProtKB/Swiss-Prot
  H0Y6I8 ENTREZGENE
  H0Y7S8_HUMAN UniProtKB/TrEMBL
  O95278 ENTREZGENE
  O95483 ENTREZGENE
  Q5T3F5 ENTREZGENE
  Q6IS15 ENTREZGENE
  Q8IU96 ENTREZGENE
  Q8IX24 ENTREZGENE
  Q8IX25 ENTREZGENE
  Q9BS66 ENTREZGENE
  Q9UEN2 ENTREZGENE
UniProt Secondary B3KMU5 UniProtKB/Swiss-Prot
  B4DRZ2 UniProtKB/Swiss-Prot
  O95483 UniProtKB/Swiss-Prot
  Q5T3F5 UniProtKB/Swiss-Prot
  Q6IS15 UniProtKB/Swiss-Prot
  Q8IU96 UniProtKB/Swiss-Prot
  Q8IX24 UniProtKB/Swiss-Prot
  Q8IX25 UniProtKB/Swiss-Prot
  Q9BS66 UniProtKB/Swiss-Prot
  Q9UEN2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 EPM2A  EPM2A glucan phosphatase, laforin  EPM2A  EPM2A, laforin glucan phosphatase  Symbol and/or name change 5135510 APPROVED
2016-10-25 EPM2A  EPM2A, laforin glucan phosphatase  EPM2A  epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)  Symbol and/or name change 5135510 APPROVED