Total 25 pathogenic variants reported for Emery-Dreifuss muscular dystrophy 1, X-linked 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000117.3(EMD):c.470G>A (p.Arg157Gln) SNV
Germline		 ChrX:154380902 Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy
not specified
Emery-Dreifuss muscular dystrophy 1, X-linked		 Criteria Provided
Conflicting Classifications
 CA325734 rs_148515772

3 SubmittersRCV000686102RCV003103716RCV003492301
NM_000117.3(EMD):c.571A>G (p.Met191Val) SNV
Germline		 ChrX:154381003 Conflicting classifications of pathogenicity not specified
Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1, X-linked		 Criteria Provided
Conflicting Classifications
 CA131133 rs_397515752

4 SubmittersRCV000035110RCV001703449RCV001852704RCV003492339
NM_000117.3(EMD):c.450-2A>G SNV
Germline		 ChrX:154380880 Pathogenic/Likely pathogenic Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1, X-linked		 Criteria Provided
Multiple Submitters
No Conflicts
 CA220368 rs_398123158

3 SubmittersRCV000078132RCV000816244RCV003492432
NM_000117.3(EMD):c.77T>C (p.Val26Ala) SNV
Germline		 ChrX:154379561 Conflicting classifications of pathogenicity not specified
X-linked Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1, X-linked		 Criteria Provided
Conflicting Classifications
 CA184862 rs_727505029

5 SubmittersRCV000156455RCV001049941RCV002408699RCV001826851RCV004719718
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) SNV
Germline		 ChrX:154380886 Conflicting classifications of pathogenicity Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
not specified
Emery-Dreifuss muscular dystrophy 1, X-linked
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA246531 rs_376456050

11 SubmittersRCV000179255RCV000616618RCV002298506RCV003491930RCV005328223
NM_000117.3(EMD):c.671C>T (p.Pro224Leu) SNV
Germline		 ChrX:154381103 Conflicting classifications of pathogenicity Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1, X-linked		 Criteria Provided
Conflicting Classifications
 CA335159 rs_782559230

6 SubmittersRCV000183446RCV000638226RCV001271620RCV003491932
NM_000117.3(EMD):c.610C>G (p.Arg204Gly) SNV
Germline		 ChrX:154381042 Conflicting classifications of pathogenicity Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1, X-linked
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA10561646 rs_782299893

5 SubmittersRCV000725843RCV001088437RCV003492028RCV004619245
NM_000117.3(EMD):c.400G>A (p.Val134Met) SNV
Germline		 ChrX:154380753 Conflicting classifications of pathogenicity Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype
Emery-Dreifuss muscular dystrophy 1, X-linked		 Criteria Provided
Conflicting Classifications
 CA337289975 rs_201250825

6 SubmittersRCV000513465RCV000701008RCV001271614RCV004992295RCV003492086
NM_000117.3(EMD):c.746A>G (p.Glu249Gly) SNV
Germline		 ChrX:154381178 Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy
Condition: not provided
Cardiovascular phenotype
Emery-Dreifuss muscular dystrophy 1, X-linked		 Criteria Provided
Conflicting Classifications
 CA10561671 rs_781947413

4 SubmittersRCV000638222RCV000827235RCV004619359RCV005392204
NM_000117.3(EMD):c.422C>T (p.Ser141Phe) SNV
Germline		 ChrX:154380775 Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1, X-linked
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA415258233 rs_1262954618

3 SubmittersRCV002015350RCV003492720RCV002331592
NM_000117.3(EMD):c.403C>T (p.His135Tyr) SNV
Germline		 ChrX:154380756 Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1, X-linked		 Criteria Provided
Conflicting Classifications
 CA10561602 rs_782110153

2 SubmittersRCV002209591RCV003492731
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter) SNV
Germline		 ChrX:154380250 Pathogenic/Likely pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked
X-linked Emery-Dreifuss muscular dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA415257822 rs_1557182431

2 SubmittersRCV003340827RCV003523160
NM_000117.3(EMD):c.441C>A (p.Cys147Ter) SNV
Unknown		 ChrX:154380794 Likely pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked Criteria Provided
Single Submitter
 CA415258322 rs_2522789929

1 SubmittersRCV003389291
NM_000117.3(EMD):c.161C>T (p.Ser54Phe) SNV
Germline		 ChrX:154379768 Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 1, X-linked
not specified		 Criteria Provided
Conflicting Classifications
 CA415257517 rs_782764813

2 SubmittersRCV003460021RCV005407160
NM_000117.3(EMD):c.512C>G (p.Ser171Ter) SNV
Germline		 ChrX:154380944 Pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked Criteria Provided
Single Submitter
 CA415258646 rs_886044901

1 SubmittersRCV004547315
NM_000117.3(EMD):c.450-1G>A SNV
Unknown		 ChrX:154380881 Likely pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked Criteria Provided
Single Submitter
 rs_2522790106

1 SubmittersRCV004576374
NM_000117.3(EMD):c.359C>A (p.Ser120Ter) SNV
Germline		 ChrX:154380327 Likely pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked Criteria Provided
Single Submitter

1 SubmittersRCV005410179