Total 91 pathogenic variants reported for Lafora disease 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) SNV
Germline		 Chr6:18122531 Pathogenic Myoclonic epilepsy of Lafora 2
Lafora disease
Condition: not provided		 Criteria Provided
Single Submitter
 CA115628 rs_28940575

3 SubmittersRCV000002704RCV000192025RCV000483691
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) SNV
Germline		 Chr6:18122402 Pathogenic Myoclonic epilepsy of Lafora 2
Lafora disease
Condition: not provided
NHLRC1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115629 rs_28940576

7 SubmittersRCV000002705RCV000192026RCV000188208RCV003952338
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) SNV
Germline		 Chr6:18122014 Likely pathogenic Myoclonic epilepsy of Lafora 2
Lafora disease
Condition: not provided		 Criteria Provided
Single Submitter
 CA115635 rs_121917876

3 SubmittersRCV000002709RCV000192028RCV001818119
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) SNV
Germline		 Chr6:145627691 Pathogenic Lafora disease
Condition: not provided
Progressive myoclonic epilepsy
Inborn genetic diseases
Myoclonic epilepsy of Lafora 1
EPM2A-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA314500 rs_104893950

15 SubmittersRCV000003244RCV000187394RCV000703218RCV002371755RCV004576870RCV004757945
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) SNV
Germline		 Chr6:145627577 Pathogenic/Likely pathogenic Condition: not provided
Progressive myoclonic epilepsy
Myoclonic epilepsy of Lafora 1
Lafora disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252542 rs_137852917

4 SubmittersRCV000675700RCV003746498RCV004576871RCV005252656
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) SNV
Germline		 Chr6:145686276 Pathogenic/Likely pathogenic Progressive myoclonic epilepsy
Lafora disease
Myoclonic epilepsy of Lafora 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252543 rs_137852915

3 SubmittersRCV001851604RCV005252657RCV004576872
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) SNV
Germline		 Chr6:145635451 Likely pathogenic Lafora disease
Progressive myoclonic epilepsy
Myoclonic epilepsy of Lafora 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252546 rs_137852916

5 SubmittersRCV000003248RCV000469417RCV004576874RCV004566675
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) SNV
Germline		 Chr6:145735405 Pathogenic/Likely pathogenic Condition: not provided
Myoclonic epilepsy of Lafora 1
Progressive myoclonic epilepsy
Lafora disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252549 rs_104893955

4 SubmittersRCV000494425RCV004576876RCV002512695RCV005252660
NM_005670.4(EPM2A):c.24G>A (p.Val8=) SNV
Germline		 Chr6:145735475 Conflicting classifications of pathogenicity not specified
Condition: not provided
Progressive myoclonic epilepsy
Inborn genetic diseases
Lafora disease		 Criteria Provided
Conflicting Classifications
 CA232477 rs_587780938

8 SubmittersRCV000186627RCV000675706RCV001081094RCV002312560RCV003224163
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) SNV
Germline		 Chr6:18122171 Pathogenic/Likely pathogenic Condition: not provided
Lafora disease
not specified
Inborn genetic diseases
Myoclonic epilepsy of Lafora 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA316028 rs_769301934

8 SubmittersRCV000188209RCV000192027RCV001169931RCV002326860RCV003989327
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) SNV
Germline		 Chr6:18122575 Conflicting classifications of pathogenicity Condition: not provided
Lafora disease
Inborn genetic diseases
NHLRC1-related disorder		 Criteria Provided
Conflicting Classifications
 CA234373 rs_139029314

12 SubmittersRCV000723909RCV001086050RCV002316968RCV003927484
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) SNV
Germline		 Chr6:18122561 Conflicting classifications of pathogenicity not specified
Inborn genetic diseases
Condition: not provided
Lafora disease
NHLRC1-related disorder
Myoclonic epilepsy of Lafora 2		 Criteria Provided
Conflicting Classifications
 CA239051 rs_146636139

9 SubmittersRCV000188197RCV002336420RCV000724005RCV001079742RCV003965245RCV005396521
NM_005670.4(EPM2A):c.902C>T (p.Pro301Leu) SNV
Germline		 Chr6:145627510 Conflicting classifications of pathogenicity Progressive myoclonic epilepsy
Lafora disease		 Criteria Provided
Conflicting Classifications
 CA314505 rs_796052428

2 SubmittersRCV003060087RCV005254687
NM_005670.4(EPM2A):c.878A>T (p.Gln293Leu) SNV
Germline		 Chr6:145627534 Pathogenic/Likely pathogenic Condition: not provided
Lafora disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA314502 rs_796052427

2 SubmittersRCV000187395RCV005252798
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) SNV
Germline		 Chr6:145627690 Conflicting classifications of pathogenicity not specified
Condition: not provided
Lafora disease
Progressive myoclonic epilepsy
EPM2A-related disorder
Inborn genetic diseases
Myoclonic epilepsy of Lafora 1		 Criteria Provided
Conflicting Classifications
 CA314503 rs_146321088

10 SubmittersRCV000187396RCV000727316RCV001331453RCV001084331RCV003967473RCV002317095RCV004799194
NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter) SNV
Germline		 Chr6:145735333 Pathogenic Condition: not provided
Lafora disease
Myoclonic epilepsy of Lafora 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA314494 rs_796052424

3 SubmittersRCV000187391RCV005252797RCV003988834
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu) SNV
Germline		 Chr6:18121516 Conflicting classifications of pathogenicity Lafora disease
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA316020 rs_78324544

4 SubmittersRCV000638342RCV002317125RCV004700571
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=) SNV
Germline		 Chr6:18121638 Conflicting classifications of pathogenicity not specified
Lafora disease
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA316014 rs_142941035

5 SubmittersRCV000188200RCV000638341RCV002372150RCV003436981
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys) SNV
Germline		 Chr6:18121926 Conflicting classifications of pathogenicity Condition: not provided
Lafora disease
Inborn genetic diseases
NHLRC1-related disorder		 Criteria Provided
Conflicting Classifications
 CA316036 rs_140850172

6 SubmittersRCV000675657RCV001081130RCV002362984RCV003937662
NM_198586.3(NHLRC1):c.551A>G (p.Asn184Ser) SNV
Germline		 Chr6:18122056 Conflicting classifications of pathogenicity Condition: not provided
Lafora disease		 Criteria Provided
Conflicting Classifications
 CA316012 rs_138667242

2 SubmittersRCV000188199RCV000691614
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=) SNV
Germline		 Chr6:18122094 Conflicting classifications of pathogenicity not specified
Lafora disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA316010 rs_148907696

4 SubmittersRCV000188198RCV000558805RCV002317124
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) SNV
Germline		 Chr6:18122129 Conflicting classifications of pathogenicity Condition: not provided
Lafora disease
Inborn genetic diseases
NHLRC1-related disorder		 Criteria Provided
Conflicting Classifications
 CA316035 rs_200595273

6 SubmittersRCV000188213RCV001078586RCV002517002RCV003967481
NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala) SNV
Germline		 Chr6:18122185 Conflicting classifications of pathogenicity Condition: not provided
Lafora disease
Inborn genetic diseases
NHLRC1-related disorder		 Criteria Provided
Conflicting Classifications
 CA316033 rs_143537405

5 SubmittersRCV000188212RCV001082176RCV002314733RCV003917716
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) SNV
Germline		 Chr6:18122221 Pathogenic/Likely pathogenic Condition: not provided
Lafora disease
Myoclonic epilepsy of Lafora 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA316031 rs_750465793

5 SubmittersRCV000188211RCV000602467RCV004800326
NM_005670.4(EPM2A):c.487A>G (p.Asn163Asp) SNV
Germline		 Chr6:145635476 Conflicting classifications of pathogenicity Condition: not provided
Progressive myoclonic epilepsy
Lafora disease		 Criteria Provided
Conflicting Classifications
 CA4035148 rs_777767978

3 SubmittersRCV000413724RCV001850991RCV005252880
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) SNV
Germline		 Chr6:145635468 Pathogenic/Likely pathogenic Condition: not provided
Progressive myoclonic epilepsy
Lafora disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4035146 rs_781291421

3 SubmittersRCV000437398RCV000638315RCV005252890
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=) SNV
Germline		 Chr6:18121617 Conflicting classifications of pathogenicity Lafora disease
Inborn genetic diseases
NHLRC1-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3649891 rs_148553723

6 SubmittersRCV000472696RCV002313232RCV003915316RCV001675909
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter) SNV
Germline		 Chr6:145735336 Pathogenic/Likely pathogenic Condition: not provided
Progressive myoclonic epilepsy
Lafora disease
Myoclonic epilepsy of Lafora 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16618251 rs_187930476

5 SubmittersRCV000485511RCV001851161RCV001782962RCV005355932
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu) SNV
Germline		 Chr6:145627667 Conflicting classifications of pathogenicity Progressive myoclonic epilepsy
Condition: not provided
Lafora disease		 Criteria Provided
Conflicting Classifications
 CA366190434 rs_1387516050

3 SubmittersRCV000556253RCV001563435RCV005252956
NM_005670.4(EPM2A):c.758A>T (p.His253Leu) SNV
Germline		 Chr6:145627654 Conflicting classifications of pathogenicity Progressive myoclonic epilepsy
Inborn genetic diseases
Lafora disease		 Criteria Provided
Conflicting Classifications
 CA4035088 rs_749937487

3 SubmittersRCV000793437RCV002388420RCV005253127
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val) SNV
Germline		 Chr6:18122032 Likely pathogenic Lafora disease Criteria Provided
Single Submitter
 CA362827327 rs_1194084403

1 SubmittersRCV000803616
NM_198586.3(NHLRC1):c.977C>A (p.Thr326Asn) SNV
Germline		 Chr6:18121630 Conflicting classifications of pathogenicity Condition: not provided
Lafora disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3649893 rs_770587249

3 SubmittersRCV000828262RCV001213699RCV002536106
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=) SNV
Germline		 Chr6:18122412 Conflicting classifications of pathogenicity Lafora disease Criteria Provided
Conflicting Classifications
 CA3650031 rs_370573413

2 SubmittersRCV001153026
NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile) SNV
Germline		 Chr6:145635403 Conflicting classifications of pathogenicity Myoclonic epilepsy, progressive, X-linked
Progressive myoclonic epilepsy
Lafora disease		 Criteria Provided
Conflicting Classifications
 CA366191421 rs_1582935082

3 SubmittersRCV000987798RCV002549688RCV005253662
NM_198586.3(NHLRC1):c.560A>C (p.His187Pro) SNV
Germline		 Chr6:18122047 Pathogenic/Likely pathogenic Lafora disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA362827497 rs_1477540228

2 SubmittersRCV001004728RCV005255638
NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter) SNV
Germline		 Chr6:18122079 Likely pathogenic Lafora disease Criteria Provided
Single Submitter
 CA362827671 rs_1403101337

1 SubmittersRCV001004859
NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys) SNV
Germline		 Chr6:145627577 Pathogenic/Likely pathogenic Progressive myoclonic epilepsy
Lafora disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4035059 rs_137852917

2 SubmittersRCV001035776RCV005253685
NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter) SNV
Germline		 Chr6:18121516 Pathogenic Lafora disease Criteria Provided
Single Submitter
 CA362824843 rs_78324544

1 SubmittersRCV001067308
NM_198586.3(NHLRC1):c.742G>T (p.Glu248Ter) SNV
Germline		 Chr6:18121865 Pathogenic Lafora disease Criteria Provided
Single Submitter
 CA362826281 rs_750055958

1 SubmittersRCV001205027
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser) SNV
Germline		 Chr6:18122246 Pathogenic Lafora disease Criteria Provided
Single Submitter
 CA3650007 rs_780082503

1 SubmittersRCV001201890
NM_005670.4(EPM2A):c.290T>G (p.Leu97Arg) SNV
Germline		 Chr6:145735209 Conflicting classifications of pathogenicity Condition: not provided
Myoclonic epilepsy of Lafora 1
Lafora disease		 Criteria Provided
Conflicting Classifications
 CA366187858 rs_1386913118

3 SubmittersRCV001311744RCV004793406RCV005253794
NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter) SNV
Unknown		 Chr6:18122239 Pathogenic Lafora disease Criteria Provided
Single Submitter
 CA362828655 rs_1783750860

1 SubmittersRCV001330611
NM_005670.4(EPM2A):c.794A>G (p.His265Arg) SNV
Germline		 Chr6:145627618 Pathogenic/Likely pathogenic Progressive myoclonic epilepsy
Lafora disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4035076 rs_201053542

2 SubmittersRCV001352138RCV005253811
NM_005670.4(EPM2A):c.85C>G (p.Leu29Val) SNV
Germline		 Chr6:145735414 Conflicting classifications of pathogenicity Progressive myoclonic epilepsy
Lafora disease		 Criteria Provided
Conflicting Classifications
 CA366188452 rs_2128649886

2 SubmittersRCV001379553RCV005253826
NM_005670.4(EPM2A):c.302-2A>G SNV
Germline		 Chr6:145686298 Pathogenic Progressive myoclonic epilepsy
Lafora disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4035191 rs_780648601

2 SubmittersRCV001380053RCV005253828
NM_198586.3(NHLRC1):c.391G>A (p.Gly131Arg) SNV
Germline		 Chr6:18122216 Likely pathogenic Lafora disease Criteria Provided
Single Submitter
 CA134960017 rs_967125703

1 SubmittersRCV001799565
NM_198586.3(NHLRC1):c.204C>A (p.Cys68Ter) SNV
Germline		 Chr6:18122403 Likely pathogenic Lafora disease Criteria Provided
Single Submitter
 CA3650028 rs_769144119

1 SubmittersRCV001823706
NM_198586.3(NHLRC1):c.782T>C (p.Leu261Pro) SNV
Germline		 Chr6:18121825 Conflicting classifications of pathogenicity Lafora disease
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA134959841 rs_879745047

2 SubmittersRCV001986585RCV005412353
NM_198586.3(NHLRC1):c.23G>A (p.Ser8Asn) SNV
Germline		 Chr6:18122584 Conflicting classifications of pathogenicity Lafora disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA362829765 rs_2150703425

2 SubmittersRCV002046148RCV004651918
NM_005670.4(EPM2A):c.302-1G>C SNV
Germline		 Chr6:145686297 Pathogenic/Likely pathogenic Progressive myoclonic epilepsy
Lafora disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA149189428 rs_369463720

3 SubmittersRCV001882329RCV002246579
NM_005670.4(EPM2A):c.258C>G (p.Tyr86Ter) SNV
Germline		 Chr6:145735241 Pathogenic Progressive myoclonic epilepsy
Lafora disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA366187926 rs_750988816

2 SubmittersRCV002035390RCV005253959
NM_005670.4(EPM2A):c.301+1G>T SNV
Germline		 Chr6:145735197 Pathogenic Progressive myoclonic epilepsy
Condition: not provided
Lafora disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA366187830 rs_1361221383

3 SubmittersRCV002043132RCV003126092RCV005254015
NM_198586.3(NHLRC1):c.438C>A (p.Asp146Glu) SNV
Germline		 Chr6:18122169 Likely pathogenic Lafora disease Criteria Provided
Single Submitter
 CA362828037 rs_200559475

1 SubmittersRCV002031969
NM_198586.3(NHLRC1):c.377T>C (p.Leu126Pro) SNV
Germline		 Chr6:18122230 Likely pathogenic Lafora disease Criteria Provided
Single Submitter
 CA134960023 rs_950907157

1 SubmittersRCV003060029
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter) SNV
Germline		 Chr6:145735201 Conflicting classifications of pathogenicity Progressive myoclonic epilepsy
Lafora disease		 Criteria Provided
Conflicting Classifications
 CA366187840 rs_1454552122

2 SubmittersRCV002824395RCV003988883
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter) SNV
Germline		 Chr6:145735320 Pathogenic/Likely pathogenic Lafora disease
Progressive myoclonic epilepsy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA366188101 rs_1332729329

3 SubmittersRCV003129592RCV003746657
NM_198586.3(NHLRC1):c.137G>A (p.Cys46Tyr) SNV
Germline		 Chr6:18122470 Likely pathogenic Lafora disease Criteria Provided
Single Submitter
 CA362829472 rs_1193718748

1 SubmittersRCV003501699
NM_198586.3(NHLRC1):c.1120G>T (p.Glu374Ter) SNV
Germline		 Chr6:18121487 Pathogenic Lafora disease Criteria Provided
Single Submitter
 CA362824672 rs_771702699

1 SubmittersRCV003608413
NM_198586.3(NHLRC1):c.602T>C (p.Phe201Ser) SNV
Germline		 Chr6:18122005 Likely pathogenic Lafora disease No Assertion Criteria Provided

1 SubmittersRCV004701244
NM_198586.3(NHLRC1):c.98T>C (p.Phe33Ser) SNV
Germline		 Chr6:18122509 Pathogenic Lafora disease Criteria Provided
Single Submitter

1 SubmittersRCV005200546
NM_005670.4(EPM2A):c.336C>A (p.Tyr112Ter) SNV
Germline		 Chr6:145686262 Pathogenic Lafora disease Criteria Provided
Single Submitter

1 SubmittersRCV005255328
NM_005670.4(EPM2A):c.323G>T (p.Arg108Leu) SNV
Germline		 Chr6:145686275 Likely pathogenic Lafora disease Criteria Provided
Single Submitter

1 SubmittersRCV005255330
NM_005670.4(EPM2A):c.272G>C (p.Arg91Pro) SNV
Germline		 Chr6:145735227 Likely pathogenic Lafora disease Criteria Provided
Single Submitter

1 SubmittersRCV005255356
NM_005670.4(EPM2A):c.259A>T (p.Lys87Ter) SNV
Germline		 Chr6:145735240 Pathogenic Lafora disease Criteria Provided
Single Submitter

1 SubmittersRCV005255372