Total 146 pathogenic variants reported for Myoclonic dystonia 11 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter) SNV
Germline		 Chr7:94628303 Pathogenic Myoclonic dystonia 11
Condition: not provided
Inborn genetic diseases
SGCE-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA253597 rs_121908489

12 SubmittersRCV000006124RCV000713248RCV001267609RCV004742214
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter) SNV
Germline		 Chr7:94628288 Pathogenic Myoclonic dystonia 11
Condition: not provided
SGCE-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA253599 rs_121908490

9 SubmittersRCV000006125RCV000713249RCV004742215
NM_003919.3(SGCE):c.587T>G (p.Leu196Arg) SNV
Germline		 Chr7:94618833 Pathogenic Myoclonic dystonia 11 No Assertion Criteria Provided
 CA253601 rs_121908491

1 SubmittersRCV000006129
NM_003919.3(SGCE):c.1114C>T (p.Arg372Ter) SNV
Germline		 Chr7:94598914 Pathogenic Myoclonic dystonia 11
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA253602 rs_121908492

3 SubmittersRCV000006132RCV003311652
NM_003919.3(SGCE):c.606A>G (p.Thr202=) SNV
Germline		 Chr7:94618814 Conflicting classifications of pathogenicity not specified
Myoclonic dystonia 11
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA222236 rs_148979783

4 SubmittersRCV000080355RCV000289832RCV000723665
NM_003919.3(SGCE):c.709C>T (p.Arg237Ter) SNV
Germline		 Chr7:94603406 Pathogenic Condition: not provided
Myoclonic dystonia 11		 Criteria Provided
Multiple Submitters
No Conflicts
 CA222238 rs_398123812

6 SubmittersRCV000080356RCV000549530
NM_003919.3(SGCE):c.436T>A (p.Leu146Met) SNV
Germline		 Chr7:94623352 Conflicting classifications of pathogenicity Condition: not provided
Myoclonic dystonia 11
SGCE-related disorder		 Criteria Provided
Conflicting Classifications
 CA4348802 rs_752074255

4 SubmittersRCV000337420RCV001083911RCV003977788
NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln) SNV
Germline		 Chr7:94600658 Conflicting classifications of pathogenicity Myoclonic dystonia 11 Criteria Provided
Conflicting Classifications
 CA4348674 rs_764696852

3 SubmittersRCV000388028
NM_003919.3(SGCE):c.556G>A (p.Ala186Thr) SNV
Germline		 Chr7:94618864 Conflicting classifications of pathogenicity Myoclonic dystonia 11
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4348768 rs_746585235

3 SubmittersRCV000347102RCV003168564
NM_003919.3(SGCE):c.510T>C (p.Asn170=) SNV
Germline		 Chr7:94618910 Conflicting classifications of pathogenicity Myoclonic dystonia 11
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA4348777 rs_55853245

4 SubmittersRCV000307704RCV000998851RCV005407081
NM_003919.3(SGCE):c.232+1G>T SNV
Germline		 Chr7:94629718 Pathogenic/Likely pathogenic Condition: not provided
Myoclonic dystonia 11		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042613 rs_1057517990

2 SubmittersRCV000412835RCV002523920
NM_003919.3(SGCE):c.391A>G (p.Ile131Val) SNV
Germline		 Chr7:94623397 Conflicting classifications of pathogenicity Condition: not provided
Myoclonic dystonia 11
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4348814 rs_370609227

9 SubmittersRCV000416039RCV000689645RCV002469145RCV003362776
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro) SNV
Germline		 Chr7:94618869 Pathogenic/Likely pathogenic Myoclonic dystonia 11
Condition: not provided
Myoclonus-dystonia syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16618579 rs_1064794321

5 SubmittersRCV000639695RCV000713250RCV005429021
NM_003919.3(SGCE):c.193G>T (p.Glu65Ter) SNV
Germline		 Chr7:94629758 Pathogenic/Likely pathogenic Condition: not provided
Myoclonic dystonia 11		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16621859 rs_1064797339

3 SubmittersRCV000487622RCV005252918
NM_003919.3(SGCE):c.826-2A>G SNV
Germline		 Chr7:94600859 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Myoclonic dystonia 11		 Criteria Provided
Conflicting Classifications
 CA368231517 rs_1554343985

3 SubmittersRCV000518111RCV002525081RCV003615845
NM_003919.3(SGCE):c.402C>A (p.Tyr134Ter) SNV
Germline		 Chr7:94623386 Pathogenic Condition: not provided
Myoclonic dystonia 11		 Criteria Provided
Multiple Submitters
No Conflicts
 CA368236902 rs_1554355416

3 SubmittersRCV000517153RCV000987929
NM_003919.3(SGCE):c.45G>A (p.Trp15Ter) SNV
Germline		 Chr7:94656054 Conflicting classifications of pathogenicity Condition: not provided
Myoclonic dystonia 11		 Criteria Provided
Conflicting Classifications
 CA368393674 rs_1295669429

3 SubmittersRCV000523938RCV003505119
NM_003919.3(SGCE):c.470C>T (p.Pro157Leu) SNV
Germline		 Chr7:94618950 Conflicting classifications of pathogenicity Myoclonic dystonia 11 Criteria Provided
Conflicting Classifications
 CA4348786 rs_768233445

3 SubmittersRCV000557233
NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu) SNV
Germline		 Chr7:94598832 Conflicting classifications of pathogenicity Myoclonic dystonia 11 Criteria Provided
Conflicting Classifications
 CA4348607 rs_17851923

3 SubmittersRCV000639693
NM_003919.3(SGCE):c.733C>T (p.Gln245Ter) SNV
Germline		 Chr7:94603382 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368232275 rs_1554345162

1 SubmittersRCV000639686
NM_003919.3(SGCE):c.727C>T (p.Gln243Ter) SNV
Germline		 Chr7:94603388 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368232300 rs_1554345170

1 SubmittersRCV000639690
NM_003919.3(SGCE):c.841C>T (p.Gln281Ter) SNV
Germline		 Chr7:94600842 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368231426 rs_1562806242

1 SubmittersRCV000698026
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter) SNV
Germline		 Chr7:94656078 Conflicting classifications of pathogenicity Condition: not provided
Myoclonic dystonia 11		 Criteria Provided
Conflicting Classifications
 CA4348932 rs_201378067

5 SubmittersRCV000713246RCV001340319
NM_003919.3(SGCE):c.810G>A (p.Trp270Ter) SNV
Germline		 Chr7:94603305 Pathogenic/Likely pathogenic Myoclonic dystonia 11
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA368231819 rs_1562811414

4 SubmittersRCV000799864RCV000762465
NM_003919.3(SGCE):c.463+1G>A SNV
Germline		 Chr7:94623324 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368236579 rs_1584663290

1 SubmittersRCV000811007
NM_003919.3(SGCE):c.1165G>C (p.Val389Leu) SNV
Germline		 Chr7:94598863 Conflicting classifications of pathogenicity Myoclonic dystonia 11
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4348613 rs_374697567

4 SubmittersRCV000862771RCV001567616RCV005278682
NM_003919.3(SGCE):c.471G>A (p.Pro157=) SNV
Germline		 Chr7:94618949 Conflicting classifications of pathogenicity Myoclonic dystonia 11 Criteria Provided
Conflicting Classifications
 CA4348785 rs_747531940

2 SubmittersRCV001163100
NM_003919.3(SGCE):c.793C>T (p.Gln265Ter) SNV
Unknown		 Chr7:94603322 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368231947 rs_1584546131

1 SubmittersRCV000987928
NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr) SNV
Germline		 Chr7:94603303 Pathogenic/Likely pathogenic Myoclonic dystonia 11
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4348722 rs_372686312

2 SubmittersRCV000995639RCV000998848
NM_003919.3(SGCE):c.742T>A (p.Cys248Ser) SNV
Germline		 Chr7:94603373 Likely pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368232241 rs_1584546494

1 SubmittersRCV000995640
NM_003919.3(SGCE):c.314A>G (p.Gln105Arg) SNV
Germline		 Chr7:94628278 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368238161 rs_1584692239

1 SubmittersRCV000995641
NM_003919.3(SGCE):c.170T>G (p.Leu57Arg) SNV
Germline		 Chr7:94629781 Likely pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368239337 rs_1584700882

1 SubmittersRCV000995642
NM_003919.3(SGCE):c.788G>A (p.Arg263His) SNV
Germline		 Chr7:94603327 Conflicting classifications of pathogenicity Myoclonic dystonia 11
Condition: not provided
Movement disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4348724 rs_375899729

5 SubmittersRCV001051288RCV001091395RCV003483765RCV004659315
NM_003919.3(SGCE):c.109+2T>C SNV
Germline		 Chr7:94655988 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368393538 rs_2117137466

1 SubmittersRCV001378801
NM_003919.3(SGCE):c.942C>A (p.Tyr314Ter) SNV
Germline		 Chr7:94600741 Pathogenic/Likely pathogenic Myoclonic dystonia 11
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA368230780 rs_2116694543

2 SubmittersRCV001381224RCV005416531
NM_003919.3(SGCE):c.109+1G>A SNV
Germline		 Chr7:94655989 Pathogenic Myoclonic dystonia 11
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA368393541 rs_1808615750

5 SubmittersRCV001381225RCV001587387
NM_003919.3(SGCE):c.410G>A (p.Arg137His) SNV
Germline		 Chr7:94623378 Conflicting classifications of pathogenicity Myoclonic dystonia 11
SGCE-related disorder		 Criteria Provided
Conflicting Classifications
 CA4348810 rs_548306335

3 SubmittersRCV001421985RCV003946103
NM_003919.3(SGCE):c.139G>A (p.Asp47Asn) SNV
Germline		 Chr7:94629812 Conflicting classifications of pathogenicity Myoclonic dystonia 11
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4348883 rs_199787155

3 SubmittersRCV001436706RCV003246967
NM_003919.3(SGCE):c.662G>T (p.Gly221Val) SNV
Germline		 Chr7:94618758 Pathogenic Myoclonic dystonia 11 No Assertion Criteria Provided
 CA368234951 rs_2116880447

1 SubmittersRCV001796910
NM_003919.3(SGCE):c.850A>G (p.Thr284Ala) SNV
Germline		 Chr7:94600833 Conflicting classifications of pathogenicity Condition: not provided
Myoclonic dystonia 11		 Criteria Provided
Conflicting Classifications
 CA162922406 rs_986900959

2 SubmittersRCV001570157RCV002569047
NM_003919.3(SGCE):c.751G>T (p.Glu251Ter) SNV
Germline		 Chr7:94603364 Pathogenic Condition: not provided
Myoclonic dystonia 11		 Criteria Provided
Multiple Submitters
No Conflicts
 CA368232197 rs_2116723386

2 SubmittersRCV001777094RCV002544228
NM_003919.3(SGCE):c.391-1G>A SNV
Germline		 Chr7:94623398 Pathogenic Condition: not provided
Myoclonic dystonia 11		 Criteria Provided
Multiple Submitters
No Conflicts
 CA368236971 rs_1803142505

3 SubmittersRCV001837661RCV002034705
NM_003919.3(SGCE):c.463+2T>A SNV
Germline		 Chr7:94623323 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368236574 rs_2116917821

1 SubmittersRCV001933476
NM_003919.3(SGCE):c.663-2A>T SNV
Germline		 Chr7:94603454 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368232483 rs_2116724997

1 SubmittersRCV001939401
NM_003919.3(SGCE):c.1065-2A>G SNV
Germline		 Chr7:94598965 Likely pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA4348632 rs_368043832

1 SubmittersRCV002033823
NM_003919.3(SGCE):c.895G>T (p.Gly299Ter) SNV
Germline		 Chr7:94600788 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368231031 rs_765792098

1 SubmittersRCV001985370
NM_003919.3(SGCE):c.662+2T>A SNV
Germline		 Chr7:94618756 Likely pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368234941 rs_2116880438

1 SubmittersRCV002025803
NM_003919.3(SGCE):c.813C>A (p.Cys271Ter) SNV
Germline		 Chr7:94603302 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368231799 rs_2116722345

1 SubmittersRCV002007424
NM_003919.3(SGCE):c.903C>A (p.Tyr301Ter) SNV
Germline		 Chr7:94600780 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368230999 rs_1322313531

1 SubmittersRCV001993233
NM_003919.3(SGCE):c.344A>G (p.Tyr115Cys) SNV
Germline		 Chr7:94628248 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368237987 rs_2116958989

1 SubmittersRCV001941900
NM_003919.3(SGCE):c.663C>G (p.Gly221=) SNV
Germline		 Chr7:94603452 Conflicting classifications of pathogenicity Myoclonic dystonia 11
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA456492630 rs_781270494

2 SubmittersRCV001994383RCV003375520
NM_003919.3(SGCE):c.942C>G (p.Tyr314Ter) SNV
Germline		 Chr7:94600741 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368230777 rs_2116694543

1 SubmittersRCV001967209
NM_003919.3(SGCE):c.153C>G (p.Tyr51Ter) SNV
Germline		 Chr7:94629798 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368239448 rs_2116972912

1 SubmittersRCV001901477
NM_003919.3(SGCE):c.778A>T (p.Lys260Ter) SNV
Germline		 Chr7:94603337 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368232037 rs_2116722961

1 SubmittersRCV002468786
NM_003919.3(SGCE):c.491T>C (p.Phe164Ser) SNV
Germline		 Chr7:94618929 Likely pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368235927 rs_2485109639

1 SubmittersRCV002468788
NM_003919.3(SGCE):c.272T>G (p.Leu91Ter) SNV
Germline		 Chr7:94628320 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368238392 rs_2485169498

1 SubmittersRCV002468789
NM_003919.3(SGCE):c.158C>A (p.Ser53Ter) SNV
Germline		 Chr7:94629793 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368239416 rs_1231727428

1 SubmittersRCV002881919
NM_003919.3(SGCE):c.825+1G>T SNV
Germline		 Chr7:94603289 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368231695 rs_2116722242

1 SubmittersRCV002889814
NM_003919.3(SGCE):c.662+1G>C SNV
Germline		 Chr7:94618757 Likely pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368234944 rs_2485107502

1 SubmittersRCV003005907
NM_003919.3(SGCE):c.391-1G>T SNV
Germline		 Chr7:94623398 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368236967 rs_1803142505

1 SubmittersRCV003019713
NM_003919.3(SGCE):c.809G>A (p.Trp270Ter) SNV
Germline		 Chr7:94603306 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368231823 rs_2484972496

1 SubmittersRCV003047235
NM_003919.3(SGCE):c.390+2T>C SNV
Germline		 Chr7:94628200 Likely pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368237667 rs_2485167836

1 SubmittersRCV003504698
NM_003919.3(SGCE):c.110-1G>T SNV
Germline		 Chr7:94629842 Likely pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368239816 rs_2485183122

1 SubmittersRCV003616478
NM_003919.3(SGCE):c.232+1G>C SNV
Germline		 Chr7:94629718 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368238920 rs_1057517990

1 SubmittersRCV003616507
NM_003919.3(SGCE):c.235G>T (p.Glu79Ter) SNV
Germline		 Chr7:94628357 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368238579 rs_375983969

1 SubmittersRCV003616698
NM_003919.3(SGCE):c.1024C>T (p.Arg342Ter) SNV
Germline		 Chr7:94600659 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter
 CA368230413 rs_1376336723

1 SubmittersRCV003880423
NM_003919.3(SGCE):c.680G>T (p.Gly227Val) SNV
Germline		 Chr7:94603435 Likely pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter

1 SubmittersRCV004798995
NM_003919.3(SGCE):c.391-2A>T SNV
Germline		 Chr7:94623399 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter

1 SubmittersRCV005142455
NM_003919.3(SGCE):c.923T>A (p.Leu308Ter) SNV
Germline		 Chr7:94600760 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter

1 SubmittersRCV005206198
NM_003919.3(SGCE):c.208G>T (p.Glu70Ter) SNV
Germline		 Chr7:94629743 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter

1 SubmittersRCV005200634
NM_003919.3(SGCE):c.463+5G>A SNV
Unknown		 Chr7:94623320 Likely pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter

1 SubmittersRCV005430900
NM_003919.3(SGCE):c.663-3C>A SNV
Germline		 Chr7:94603455 Pathogenic Myoclonic dystonia 11 Criteria Provided
Single Submitter

1 SubmittersRCV005439228