Total 44 pathogenic variants reported for Dyggve-Melchior-Clausen syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001353214.3(DYM):c.48C>G (p.Tyr16Ter) SNV
Germline		 Chr18:49430347 Pathogenic Dyggve-Melchior-Clausen syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA116045 rs_120074161

2 SubmittersRCV000003334RCV005089150
NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter) SNV
Germline		 Chr18:49378592 Pathogenic/Likely pathogenic Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
Smith-McCort dysplasia 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116047 rs_120074162

4 SubmittersRCV000003336RCV002482820RCV001851607RCV002512699
NM_001353214.3(DYM):c.1405A>T (p.Asn469Tyr) SNV
Germline		 Chr18:49257065 Pathogenic Dyggve-Melchior-Clausen syndrome No Assertion Criteria Provided
 CA116049 rs_120074163

1 SubmittersRCV000003337
NM_001353214.3(DYM):c.1252-1G>A SNV
Germline		 Chr18:49258494 Pathogenic Dyggve-Melchior-Clausen syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA402506981 rs_1568119124

2 SubmittersRCV000003341RCV001851608
NM_001353214.3(DYM):c.422-2A>G SNV
Germline		 Chr18:49363235 Pathogenic Dyggve-Melchior-Clausen syndrome No Assertion Criteria Provided
 CA402509827 rs_1568319747

1 SubmittersRCV000003343
NM_001353214.3(DYM):c.2025+1G>A SNV
Germline		 Chr18:49097401 Pathogenic Condition: not provided
Dyggve-Melchior-Clausen syndrome		 Criteria Provided
Single Submitter
 CA235996 rs_786205511

1 SubmittersRCV000171271RCV003987403
NM_001353214.3(DYM):c.1344A>G (p.Gln448=) SNV
Germline		 Chr18:49258401 Conflicting classifications of pathogenicity Condition: not provided
Smith-McCort dysplasia
Dyggve-Melchior-Clausen syndrome		 Criteria Provided
Conflicting Classifications
 CA239916 rs_77902523

3 SubmittersRCV000174382RCV000297024RCV000404920
NM_001353214.3(DYM):c.621-2A>G SNV
Germline		 Chr18:49332008 Pathogenic Smith-McCort dysplasia 1
Dyggve-Melchior-Clausen syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA203660 rs_775414124

2 SubmittersRCV000003338RCV000003339RCV000180341
NM_001353214.3(DYM):c.1717C>T (p.Leu573=) SNV
Germline		 Chr18:49163696 Conflicting classifications of pathogenicity Dyggve-Melchior-Clausen syndrome
Smith-McCort dysplasia
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8958046 rs_145279594

5 SubmittersRCV000293421RCV000336606RCV000304877RCV000888403
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg) SNV
Germline		 Chr18:49097484 Conflicting classifications of pathogenicity Smith-McCort dysplasia
Condition: not provided
Dyggve-Melchior-Clausen syndrome
DYM-related disorder		 Criteria Provided
Conflicting Classifications
 CA8957962 rs_146000214

4 SubmittersRCV000321281RCV000353342RCV000378341RCV004021154
NM_001353214.3(DYM):c.620+4T>G SNV
Germline		 Chr18:49333724 Conflicting classifications of pathogenicity Condition: not provided
Dyggve-Melchior-Clausen syndrome
Connective tissue disorder
Smith-McCort dysplasia 1
DYM-related disorder		 Criteria Provided
Conflicting Classifications
 CA8958322 rs_201652921

6 SubmittersRCV000377528RCV001125697RCV002278306RCV001125698RCV004021225
NM_001353214.3(DYM):c.288-10G>A SNV
Germline		 Chr18:49378710 Conflicting classifications of pathogenicity Dyggve-Melchior-Clausen syndrome
Smith-McCort dysplasia 1
Condition: not provided
DYM-related disorder		 Criteria Provided
Conflicting Classifications
 CA8958429 rs_557407004

4 SubmittersRCV000271206RCV000312331RCV000372965RCV004021308
NM_001353214.3(DYM):c.1995C>T (p.Gly665=) SNV
Germline		 Chr18:49097432 Conflicting classifications of pathogenicity Dyggve-Melchior-Clausen syndrome
Smith-McCort dysplasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8957946 rs_370290857

2 SubmittersRCV000259918RCV000317373RCV001859922
NM_001353214.3(DYM):c.1977G>A (p.Leu659=) SNV
Germline		 Chr18:49097450 Conflicting classifications of pathogenicity Dyggve-Melchior-Clausen syndrome
Smith-McCort dysplasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8957951 rs_201023000

2 SubmittersRCV000268552RCV000360438RCV001399741
NM_001353214.3(DYM):c.573A>T (p.Glu191Asp) SNV
Germline		 Chr18:49333775 Conflicting classifications of pathogenicity Smith-McCort dysplasia
Dyggve-Melchior-Clausen syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8958333 rs_370414289

2 SubmittersRCV000334825RCV000375153RCV000940130
NM_001353214.3(DYM):c.1924T>C (p.Phe642Leu) SNV
Germline		 Chr18:49097503 Conflicting classifications of pathogenicity Dyggve-Melchior-Clausen syndrome
Smith-McCort dysplasia
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8957965 rs_151034190

4 SubmittersRCV000290928RCV000329327RCV001753786RCV003243082
NM_001353214.3(DYM):c.321G>A (p.Leu107=) SNV
Germline		 Chr18:49378667 Conflicting classifications of pathogenicity Dyggve-Melchior-Clausen syndrome
Condition: not provided
Smith-McCort dysplasia
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA8958423 rs_16950519

3 SubmittersRCV000341380RCV000907132RCV000402458RCV002278502
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln) SNV
Germline		 Chr18:49118787 Conflicting classifications of pathogenicity Smith-McCort dysplasia
Dyggve-Melchior-Clausen syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8958003 rs_138427861

3 SubmittersRCV000351589RCV000391081RCV000729040
NM_001353214.3(DYM):c.1251+12T>C SNV
Germline		 Chr18:49272166 Conflicting classifications of pathogenicity Dyggve-Melchior-Clausen syndrome
Smith-McCort dysplasia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8958130 rs_374105000

2 SubmittersRCV000354205RCV000402920RCV003765893
NM_001353214.3(DYM):c.208C>T (p.Arg70Ter) SNV
Germline		 Chr18:49379744 Pathogenic/Likely pathogenic Condition: not provided
Dyggve-Melchior-Clausen syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8958460 rs_768509996

4 SubmittersRCV000519107RCV001591181
NM_017653.6(DYM):c.1461-8T>G SNV
Germline		 Chr18:49163795 Conflicting classifications of pathogenicity Condition: not provided
Smith-McCort dysplasia 1
Dyggve-Melchior-Clausen syndrome		 Criteria Provided
Conflicting Classifications
 CA8958065 rs_374658638

2 SubmittersRCV000900446RCV001125614RCV001125613
NM_001353214.3(DYM):c.947-2A>G SNV
Germline		 Chr18:49282177 Pathogenic/Likely pathogenic Dyggve-Melchior-Clausen syndrome
DYM-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA300379610 rs_567638775

2 SubmittersRCV001262584RCV004035398
NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter) SNV
Germline		 Chr18:49118893 Pathogenic Dyggve-Melchior-Clausen syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8958023 rs_780873164

3 SubmittersRCV001280803RCV001871621
NM_001353214.3(DYM):c.719C>A (p.Ser240Ter) SNV
Germline		 Chr18:49331908 Pathogenic Dyggve-Melchior-Clausen syndrome Criteria Provided
Single Submitter
 CA402508933 rs_767767037

1 SubmittersRCV001328005
NM_001353214.3(DYM):c.1728+2T>C SNV
Germline		 Chr18:49163683 Pathogenic/Likely pathogenic Dyggve-Melchior-Clausen syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA402508908 rs_2087482291

2 SubmittersRCV001352909
NM_001353214.3(DYM):c.59T>A (p.Leu20Ter) SNV
Germline		 Chr18:49430336 Pathogenic Condition: not provided
Dyggve-Melchior-Clausen syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402412596 rs_2074694091

2 SubmittersRCV001783166RCV002250771
NM_001353214.3(DYM):c.610C>T (p.Arg204Ter) SNV
Germline		 Chr18:49333738 Pathogenic Dyggve-Melchior-Clausen syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8958327 rs_752868357

3 SubmittersRCV003326703RCV003561251
NM_001353214.3(DYM):c.1125+1G>A SNV
Germline		 Chr18:49281996 Likely pathogenic Dyggve-Melchior-Clausen syndrome Criteria Provided
Single Submitter
 CA402507911 rs_2094993424

1 SubmittersRCV003493995
NM_001353214.3(DYM):c.916C>T (p.Gln306Ter) SNV
Germline		 Chr18:49286464 Likely pathogenic Dyggve-Melchior-Clausen syndrome Criteria Provided
Single Submitter
 CA402508388 rs_201540129

1 SubmittersRCV003494001
NM_001353214.3(DYM):c.99G>A (p.Trp33Ter) SNV
Germline		 Chr18:49430296 Likely pathogenic Dyggve-Melchior-Clausen syndrome Criteria Provided
Single Submitter
 CA402412510 rs_2524201617

1 SubmittersRCV003340804
NM_001353214.3(DYM):c.1867C>T (p.Arg623Ter) SNV
Germline		 Chr18:49118788 Conflicting classifications of pathogenicity Dyggve-Melchior-Clausen syndrome Criteria Provided
Conflicting Classifications
 CA8958004 rs_756877451

2 SubmittersRCV003990026
NM_001353214.3(DYM):c.1626-2A>G SNV
Germline		 Chr18:49163789 Likely pathogenic Dyggve-Melchior-Clausen syndrome Criteria Provided
Single Submitter
 rs_2514909662

1 SubmittersRCV004577077
NM_001353214.3(DYM):c.421+1G>T SNV
Germline		 Chr18:49378566 Likely pathogenic Dyggve-Melchior-Clausen syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004764352