Total 57 pathogenic variants reported for Dystonia 28 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_014727.3(KMT2B):c.1633C>T (p.Arg545Ter) SNV
Germline		 Chr19:35720980 Pathogenic/Likely pathogenic Dystonia 28, childhood-onset Criteria Provided
Multiple Submitters
No Conflicts
 CA16043947 rs_1057519279

3 SubmittersRCV000415516
NM_014727.3(KMT2B):c.7050-2A>G SNV
Germline		 Chr19:35733761 Pathogenic Dystonia 28, childhood-onset Criteria Provided
Single Submitter
 CA16043948 rs_1057519280

2 SubmittersRCV000415558
NM_014727.3(KMT2B):c.2428C>T (p.Gln810Ter) SNV
Germline		 Chr19:35721775 Likely pathogenic Dystonia 28, childhood-onset Criteria Provided
Single Submitter
 CA16043949 rs_1057519281

2 SubmittersRCV000415591
NM_014727.3(KMT2B):c.1690C>T (p.Arg564Ter) SNV
Germline		 Chr19:35721037 Pathogenic/Likely pathogenic Dystonia 28, childhood-onset Criteria Provided
Multiple Submitters
No Conflicts
 CA16043951 rs_1057519283

3 SubmittersRCV000415564
NM_014727.3(KMT2B):c.4545C>A (p.Tyr1515Ter) SNV
Germline		 Chr19:35728145 Likely pathogenic Dystonia 28, childhood-onset
Condition: not provided		 Criteria Provided
Single Submitter
 CA16043952 rs_1057519284

3 SubmittersRCV000415597RCV002251741
NM_014727.3(KMT2B):c.4931G>T (p.Cys1644Phe) SNV
Germline		 Chr19:35729980 Likely pathogenic Dystonia 28, childhood-onset Criteria Provided
Single Submitter
 CA405418702 rs_1555731819

1 SubmittersRCV000626041
NM_014727.3(KMT2B):c.1337C>T (p.Pro446Leu) SNV
Germline		 Chr19:35720684 Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_769921695

2 SubmittersRCV000662111RCV002532024
NM_014727.3(KMT2B):c.5114G>A (p.Arg1705Gln) SNV
Germline		 Chr19:35730379 Conflicting classifications of pathogenicity Dystonia 28, childhood-onset Criteria Provided
Conflicting Classifications
 rs_1555731980

2 SubmittersRCV000664055
NM_014727.3(KMT2B):c.5335C>T (p.Arg1779Ter) SNV
Germline		 Chr19:35730765 Likely pathogenic Dystonia 28, childhood-onset Criteria Provided
Single Submitter
 rs_1568379151

1 SubmittersRCV000681653
NM_014727.3(KMT2B):c.4960T>C (p.Cys1654Arg) SNV
Germline		 Chr19:35730009 Likely pathogenic Dystonia 28, childhood-onset Criteria Provided
Single Submitter
 rs_1599689373

1 SubmittersRCV000853309
NM_014727.3(KMT2B):c.424C>T (p.Arg142Ter) SNV
Germline		 Chr19:35719529 Pathogenic Dystonia 28, childhood-onset
Global developmental delay		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_748888652

2 SubmittersRCV000995570RCV001255391
NM_014727.3(KMT2B):c.3632G>A (p.Gly1211Glu) SNV
Germline		 Chr19:35725323 Likely pathogenic Dystonia 28, childhood-onset Criteria Provided
Single Submitter
 rs_1599679995

1 SubmittersRCV000995571
NM_014727.3(KMT2B):c.3700G>A (p.Glu1234Lys) SNV
Germline		 Chr19:35725536 Likely pathogenic Dystonia 28, childhood-onset Criteria Provided
Single Submitter
 rs_1599680351

1 SubmittersRCV000995572
NM_014727.3(KMT2B):c.4549C>T (p.Arg1517Ter) SNV
Germline		 Chr19:35728149 Pathogenic Dystonia 28, childhood-onset Criteria Provided
Single Submitter
 rs_1459799356

1 SubmittersRCV000995573
NM_014727.3(KMT2B):c.4847C>T (p.Ala1616Val) SNV
Germline		 Chr19:35729226 Likely pathogenic Dystonia 28, childhood-onset Criteria Provided
Multiple Submitters
No Conflicts
 rs_1599687853

2 SubmittersRCV000995574
NM_014727.3(KMT2B):c.1028G>A (p.Arg343Lys) SNV
Germline		 Chr19:35720375 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 28, childhood-onset		 Criteria Provided
Conflicting Classifications
 rs_200396386

3 SubmittersRCV001091072RCV001333774
NM_014727.3(KMT2B):c.1760C>G (p.Pro587Arg) SNV
Germline		 Chr19:35721107 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 28, childhood-onset		 Criteria Provided
Conflicting Classifications
 rs_2242519

3 SubmittersRCV001091073RCV002295327
NM_014727.3(KMT2B):c.3429+9G>A SNV
Germline		 Chr19:35724740 Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_868331986

2 SubmittersRCV001199094RCV003770223
NM_014727.3(KMT2B):c.4844C>T (p.Ser1615Leu) SNV
Germline		 Chr19:35729223 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Dystonia 28, childhood-onset		 Criteria Provided
Conflicting Classifications
 rs_2146459766

3 SubmittersRCV001379239RCV002550964RCV003336390
NM_014727.3(KMT2B):c.7348C>T (p.Arg2450Ter) SNV
Germline		 Chr19:35736962 Likely pathogenic Dystonia 28, childhood-onset No Assertion Criteria Provided
 rs_1568384928

1 SubmittersRCV001542502
NM_014727.3(KMT2B):c.4460G>A (p.Arg1487His) SNV
Germline		 Chr19:35727948 Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_753899619

2 SubmittersRCV001591672RCV002573302
NM_014727.3(KMT2B):c.7984C>T (p.Arg2662Trp) SNV
Germline		 Chr19:35738393 Likely pathogenic Dystonia 28, childhood-onset Criteria Provided
Single Submitter
 rs_2146483064

1 SubmittersRCV001775255
NM_014727.3(KMT2B):c.3206C>G (p.Ser1069Cys) SNV
Germline		 Chr19:35723879 Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_748861506

2 SubmittersRCV001837306RCV002545211
NM_014727.3(KMT2B):c.5462C>G (p.Pro1821Arg) SNV
Germline		 Chr19:35731932 Likely pathogenic Dystonia 28, childhood-onset Criteria Provided
Single Submitter
 rs_748336996

1 SubmittersRCV001837411
NM_014727.3(KMT2B):c.5621G>A (p.Arg1874Gln) SNV
Germline		 Chr19:35732091 Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1036243378

2 SubmittersRCV001839284RCV002542834
NM_014727.3(KMT2B):c.6170G>A (p.Arg2057His) SNV
Germline		 Chr19:35732719 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 28, childhood-onset		 Criteria Provided
Conflicting Classifications
 rs_374062006

2 SubmittersRCV002040670RCV003989747
NM_014727.3(KMT2B):c.5073C>T (p.Gly1691=) SNV
Germline		 Chr19:35730122 Pathogenic Dystonia 28, childhood-onset Criteria Provided
Single Submitter
 rs_2146461810

1 SubmittersRCV002037089
NM_014727.3(KMT2B):c.7470C>A (p.Phe2490Leu) SNV
Germline		 Chr19:35737183 Likely pathogenic Dystonia 28, childhood-onset Criteria Provided
Single Submitter
 rs_2146479981

1 SubmittersRCV002226887
NM_014727.3(KMT2B):c.3190C>A (p.Pro1064Thr) SNV
Germline		 Chr19:35723863 Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_1350666277

3 SubmittersRCV002266894RCV003728059RCV004047456
NM_014727.3(KMT2B):c.7921G>A (p.Ala2641Thr) SNV
Germline		 Chr19:35738330 Likely pathogenic Dystonia 28, childhood-onset
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2146482963

2 SubmittersRCV002274466RCV003234175
NM_014727.3(KMT2B):c.3917G>T (p.Cys1306Phe) SNV
Germline		 Chr19:35726267 Likely pathogenic Dystonia 28, childhood-onset No Assertion Criteria Provided

1 SubmittersRCV002291189
NM_014727.3(KMT2B):c.1603C>T (p.Arg535Cys) SNV
Germline		 Chr19:35720950 Likely pathogenic Dystonia 28, childhood-onset Criteria Provided
Single Submitter

1 SubmittersRCV002468731
NM_014727.3(KMT2B):c.7693C>G (p.Arg2565Gly) SNV
Germline		 Chr19:35737893 Likely pathogenic Dystonia 28, childhood-onset
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002468733RCV003321950
NM_014727.3(KMT2B):c.4043A>G (p.Asn1348Ser) SNV
Germline		 Chr19:35727195 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 28, childhood-onset		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002642992RCV003340531
NM_014727.3(KMT2B):c.5179G>T (p.Ala1727Ser) SNV
Germline		 Chr19:35730444 Likely pathogenic Dystonia 28, childhood-onset Criteria Provided
Single Submitter

1 SubmittersRCV003388190
NM_014727.3(KMT2B):c.5002C>T (p.Arg1668Trp) SNV
Germline		 Chr19:35730051 Likely pathogenic Dystonia 28, childhood-onset Criteria Provided
Single Submitter

1 SubmittersRCV003335868
NM_014727.3(KMT2B):c.610C>T (p.Gln204Ter) SNV
Germline		 Chr19:35719957 Pathogenic Dystonia 28, childhood-onset No Assertion Criteria Provided

1 SubmittersRCV003989456