Total 26 pathogenic variants reported for Smith-McCort dysplasia 
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.396T>A (p.Tyr132Ter) SNV
Germline		 Chr18:49378592 Pathogenic/Likely pathogenic Dyggve-Melchior-Clausen syndrome
Condition: not provided
Smith-McCort dysplasia 1
Dyggve-Melchior-Clausen syndrome
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116047 rs_120074162

5 SubmittersRCV000003336RCV001851607RCV002482820RCV002512699
NM_001353214.3(DYM):c.259G>A (p.Glu87Lys) SNV
Germline		 Chr18:49379693 Pathogenic Smith-McCort dysplasia 1
Condition: not provided
DYM-related disorder		 Criteria Provided
Single Submitter
 CA116050 rs_120074164

3 SubmittersRCV000003340RCV002512700RCV004758589
NM_001353214.3(DYM):c.1789T>C (p.Cys597Arg) SNV
Germline		 Chr18:49118866 Pathogenic Smith-McCort dysplasia 1 No Assertion Criteria Provided
 CA116051 rs_120074165

1 SubmittersRCV000003344
NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln) SNV
Germline		 Chr4:139454331 Likely pathogenic Smith-McCort dysplasia 2 Criteria Provided
Single Submitter
 CA143715 rs_587776958

2 SubmittersRCV000043483
NM_031296.3(RAB33B):c.444T>A (p.Asn148Lys) SNV
Germline		 Chr4:139472880 Pathogenic Smith-McCort dysplasia 2 No Assertion Criteria Provided
 CA10602368 rs_886044716

1 SubmittersRCV000043484
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.620+4T>G SNV
Germline		 Chr18:49333724 Conflicting classifications of pathogenicity Condition: not provided
Smith-McCort dysplasia 1
DYM-related disorder
Dyggve-Melchior-Clausen syndrome
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA8958322 rs_201652921

6 SubmittersRCV000377528RCV001125698RCV004021225RCV001125697RCV002278306
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_031296.3(RAB33B):c.336C>T (p.Phe112=) SNV
Germline		 Chr4:139472772 Conflicting classifications of pathogenicity Smith-McCort dysplasia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3084001 rs_142541603

2 SubmittersRCV000328510RCV002057916
NM_031296.3(RAB33B):c.432T>C (p.Ile144=) SNV
Germline		 Chr4:139472868 Conflicting classifications of pathogenicity Smith-McCort dysplasia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3084019 rs_769999843

2 SubmittersRCV000288744RCV001850842
NM_031296.3(RAB33B):c.135C>G (p.Gly45=) SNV
Germline		 Chr4:139454330 Conflicting classifications of pathogenicity Condition: not provided
Smith-McCort dysplasia 2		 Criteria Provided
Conflicting Classifications
 CA3083947 rs_138534367

2 SubmittersRCV002057915RCV000377262
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_031296.3(RAB33B):c.211C>T (p.Arg71Ter) SNV
Germline		 Chr4:139454406 Pathogenic Smith-McCort dysplasia 2 Criteria Provided
Single Submitter
 CA358271927 rs_1085307128

2 SubmittersRCV000488447
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser) SNV
Germline		 Chr4:139472801 Conflicting classifications of pathogenicity Smith-McCort dysplasia 2 Criteria Provided
Conflicting Classifications
 CA358272776 rs_1085307129

3 SubmittersRCV000488435
NM_031296.3(RAB33B):c.490C>T (p.Gln164Ter) SNV
Germline		 Chr4:139472926 Pathogenic Smith-McCort dysplasia 2 No Assertion Criteria Provided
 CA358273047 rs_1085307131

1 SubmittersRCV000488449
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_031296.3(RAB33B):c.201G>A (p.Gly67=) SNV
Germline		 Chr4:139454396 Conflicting classifications of pathogenicity Smith-McCort dysplasia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3083960 rs_568007401

2 SubmittersRCV001147191RCV005093640
NM_031296.3(RAB33B):c.530C>T (p.Thr177Met) SNV
Germline		 Chr4:139472966 Conflicting classifications of pathogenicity Smith-McCort dysplasia 2
Condition: not provided
RAB33B-related disorder		 Criteria Provided
Conflicting Classifications
 CA3084027 rs_140381459

5 SubmittersRCV001148162RCV001573007RCV003938511
NM_031296.3(RAB33B):c.678G>A (p.Thr226=) SNV
Germline		 Chr4:139473114 Conflicting classifications of pathogenicity Smith-McCort dysplasia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3084047 rs_758182997

2 SubmittersRCV001149722RCV002070815
NM_031296.3(RAB33B):c.400C>T (p.Gln134Ter) SNV
Germline		 Chr4:139472836 Pathogenic Smith-McCort dysplasia 2
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA358272858 rs_1750416123

3 SubmittersRCV001352912RCV004584436
NM_031296.3(RAB33B):c.144C>A (p.Cys48Ter) SNV
Germline		 Chr4:139454339 Pathogenic Smith-McCort dysplasia 2 No Assertion Criteria Provided
 CA358271786 rs_2111067418

1 SubmittersRCV001420351
NM_031296.3(RAB33B):c.253C>T (p.Gln85Ter) SNV
Germline		 Chr4:139472689 Pathogenic Smith-McCort dysplasia 2 No Assertion Criteria Provided
 CA358272515 rs_2111087458

2 SubmittersRCV001420350
NM_031296.3(RAB33B):c.280C>T (p.Arg94Ter) SNV
Germline		 Chr4:139472716 Pathogenic Smith-McCort dysplasia 2 Criteria Provided
Single Submitter
 CA358272576 rs_1187861686

2 SubmittersRCV001420352
NM_001353214.3(DYM):c.107T>G (p.Leu36Arg) SNV
Unknown		 Chr18:49430288 Likely pathogenic Smith-McCort dysplasia 1 Criteria Provided
Single Submitter

1 SubmittersRCV006630841