Total 58 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

6 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

14 SubmittersRCV000003244RCV000187394RCV000703218RCV002371755RCV004576870RCV004757945
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
Single Submitter
 CA252546 rs_137852916

4 SubmittersRCV000003248RCV000469417RCV004576874RCV004566675
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 Lafora disease
not specified
Myoclonic epilepsy of Lafora 2
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA316028 rs_769301934

8 SubmittersRCV000192027RCV001169931RCV003989327RCV000188209RCV002326860
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 Condition: not provided
Lafora disease
NHLRC1-related disorder
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA239051 rs_146636139

8 SubmittersRCV000724005RCV001079742RCV003965245RCV000188197RCV002336420
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) SNV
Germline		 Chr6:145627690 Conflicting classifications of pathogenicity not specified
Condition: not provided
Progressive myoclonic epilepsy
Lafora disease
Inborn genetic diseases
EPM2A-related disorder
Myoclonic epilepsy of Lafora 1		 Criteria Provided
Conflicting Classifications
 CA314503 rs_146321088

10 SubmittersRCV000187396RCV000727316RCV001084331RCV001331453RCV002317095RCV003967473RCV004799194
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
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA316014 rs_142941035

5 SubmittersRCV000188200RCV000638341RCV003436981RCV002372150
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.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_198586.3(NHLRC1):c.990G>A (p.Gln330=) SNV
Germline		 Chr6:18121617 Conflicting classifications of pathogenicity Lafora disease
Condition: not provided
Inborn genetic diseases
NHLRC1-related disorder		 Criteria Provided
Conflicting Classifications
 CA3649891 rs_148553723

6 SubmittersRCV000472696RCV001675909RCV002313232RCV003915316
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter) SNV
Germline		 Chr6:145735336 Pathogenic/Likely pathogenic Condition: not provided
Progressive myoclonic epilepsy
Lafora disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16618251 rs_187930476

3 SubmittersRCV000485511RCV001851161RCV001782962
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val) SNV
Germline		 Chr6:18122032 Likely pathogenic Lafora disease Criteria Provided
Single Submitter
 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
 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
 rs_370573413

2 SubmittersRCV001153026
NM_198586.3(NHLRC1):c.560A>C (p.His187Pro) SNV
Unknown		 Chr6:18122047 Pathogenic Lafora disease Criteria Provided
Single Submitter

1 SubmittersRCV001004728
NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter) SNV
Germline		 Chr6:18122079 Likely pathogenic Lafora disease Criteria Provided
Single Submitter
 rs_1403101337

1 SubmittersRCV001004859
NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter) SNV
Germline		 Chr6:18121516 Pathogenic Lafora disease Criteria Provided
Single Submitter
 rs_78324544

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

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

1 SubmittersRCV001201890
NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter) SNV
Unknown		 Chr6:18122239 Pathogenic Lafora disease Criteria Provided
Single Submitter
 rs_1783750860

1 SubmittersRCV001330611
NM_005670.4(EPM2A):c.745G>A (p.Val249Met) SNV
Germline		 Chr6:145627667 Likely pathogenic Lafora disease No Assertion Criteria Provided
 rs_1387516050

1 SubmittersRCV001421037
NM_198586.3(NHLRC1):c.391G>A (p.Gly131Arg) SNV
Germline		 Chr6:18122216 Likely pathogenic Lafora disease Criteria Provided
Single Submitter
 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
 rs_769144119

1 SubmittersRCV001823706
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
 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
 rs_369463720

2 SubmittersRCV001882329RCV002246579
NM_198586.3(NHLRC1):c.438C>A (p.Asp146Glu) SNV
Germline		 Chr6:18122169 Likely pathogenic Lafora disease Criteria Provided
Single Submitter
 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

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

2 SubmittersRCV003988883RCV002824395
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

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

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

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