Total 44 pathogenic variants reported for Ehlers-Danlos syndrome, musculocontractural type 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro) SNV
Germline		 Chr15:40471851 Likely pathogenic Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, musculocontractural type 1		 Criteria Provided
Single Submitter
 CA281522 rs_121908257

3 SubmittersRCV000002427RCV001290021
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys) SNV
Germline		 Chr15:40472091 Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, musculocontractural type
Condition: not provided
Ehlers-Danlos syndrome, musculocontractural type 1
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281524 rs_121908258

5 SubmittersRCV000002429RCV000523135RCV001290020RCV002444414
NM_130468.4(CHST14):c.842C>T (p.Pro281Leu) SNV
Germline		 Chr15:40472055 Pathogenic Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, musculocontractural type 1		 Criteria Provided
Single Submitter
 CA281526 rs_267606729

2 SubmittersRCV000002430RCV001290019
NM_130468.4(CHST14):c.205A>T (p.Lys69Ter) SNV
Germline		 Chr15:40471418 Pathogenic Ehlers-Danlos syndrome, musculocontractural type 1 No Assertion Criteria Provided
 CA281528 rs_267606730

1 SubmittersRCV000002431
NM_130468.4(CHST14):c.866G>C (p.Cys289Ser) SNV
Germline		 Chr15:40472079 Pathogenic Ehlers-Danlos syndrome, musculocontractural type 1 No Assertion Criteria Provided
 CA281531 rs_267606731

1 SubmittersRCV000002432
NM_130468.4(CHST14):c.821G>C (p.Arg274Pro) SNV
Germline		 Chr15:40472034 Pathogenic Ehlers-Danlos syndrome, musculocontractural type 1 No Assertion Criteria Provided
 CA284651 rs_397514706

1 SubmittersRCV000043688
NM_013352.4(DSE):c.803C>T (p.Ser268Leu) SNV
Germline		 Chr6:116431086 Pathogenic Ehlers-Danlos syndrome, musculocontractural type 2 No Assertion Criteria Provided
 CA145364 rs_398122361

1 SubmittersRCV000074436
NM_130468.4(CHST14):c.807T>C (p.Asp269=) SNV
Germline		 Chr15:40472020 Conflicting classifications of pathogenicity not specified
Condition: not provided
Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA7481647 rs_139229738

7 SubmittersRCV000250602RCV000725980RCV001087570RCV002278224RCV002418090
NM_130468.4(CHST14):c.635T>C (p.Val212Ala) SNV
Germline		 Chr15:40471848 Conflicting classifications of pathogenicity not specified
Condition: not provided
Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA7481625 rs_144629123

5 SubmittersRCV000414071RCV000585577RCV001086290RCV002278648RCV002365452
NM_013352.4(DSE):c.1004G>A (p.Arg335His) SNV
Germline		 Chr6:116433436 Conflicting classifications of pathogenicity Condition: not provided
Ehlers-Danlos syndrome, musculocontractural type 2		 Criteria Provided
Conflicting Classifications
 CA3969607 rs_371480627

2 SubmittersRCV000436673RCV002522675
NM_013352.4(DSE):c.359T>C (p.Ile120Thr) SNV
Germline		 Chr6:116399609 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3969503 rs_147451395

3 SubmittersRCV001331798RCV001721458
NM_130468.4(CHST14):c.958C>T (p.Arg320Ter) SNV
Germline		 Chr15:40472171 Conflicting classifications of pathogenicity Condition: not provided
Ehlers-Danlos syndrome, musculocontractural type
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA391768194 rs_1555410784

3 SubmittersRCV000498443RCV002524105RCV003302737
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys) SNV
Germline		 Chr15:40471997 Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, musculocontractural type
Condition: not provided
Ehlers-Danlos syndrome, musculocontractural type 1
CHST14-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA391767055 rs_1247205097

6 SubmittersRCV000500082RCV001561424RCV002271341RCV003962376
NM_013352.4(DSE):c.799A>G (p.Arg267Gly) SNV
Germline		 Chr6:116431082 Pathogenic Ehlers-Danlos syndrome, musculocontractural type 2 No Assertion Criteria Provided
 CA365392721 rs_1554227382

1 SubmittersRCV000515451
NM_013352.4(DSE):c.1897G>A (p.Val633Met) SNV
Germline		 Chr6:116436365 Conflicting classifications of pathogenicity Condition: not provided
Ehlers-Danlos syndrome, musculocontractural type 2		 Criteria Provided
Conflicting Classifications
 CA3969726 rs_550208733

2 SubmittersRCV000522074RCV001490971
NM_013352.4(DSE):c.2168G>A (p.Arg723Gln) SNV
Germline		 Chr6:116436636 Conflicting classifications of pathogenicity Condition: not provided
Ehlers-Danlos syndrome, musculocontractural type 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3969774 rs_371043332

4 SubmittersRCV000520971RCV001853691RCV004023623
NM_130468.4(CHST14):c.198C>G (p.Ala66=) SNV
Germline		 Chr15:40471411 Conflicting classifications of pathogenicity Condition: not provided
Ehlers-Danlos syndrome, musculocontractural type
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA268822190 rs_1014902072

3 SubmittersRCV000595222RCV001468997RCV002420575
NM_013352.4(DSE):c.450G>A (p.Pro150=) SNV
Germline		 Chr6:116426607 Conflicting classifications of pathogenicity Condition: not provided
Ehlers-Danlos syndrome, musculocontractural type 2
Ehlers-Danlos syndrome		 Criteria Provided
Conflicting Classifications
 CA3969526 rs_773416085

3 SubmittersRCV001718950RCV002065255RCV002279414
NM_013352.4(DSE):c.2601C>T (p.Tyr867=) SNV
Germline		 Chr6:116437069 Conflicting classifications of pathogenicity not specified
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, musculocontractural type 2
DSE-related disorder		 Criteria Provided
Conflicting Classifications
 CA3969840 rs_535021192

4 SubmittersRCV000608370RCV002279400RCV002529484RCV003945480
NM_130468.4(CHST14):c.471G>A (p.Val157=) SNV
Germline		 Chr15:40471684 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
CHST14-related disorder		 Criteria Provided
Conflicting Classifications
 CA7481603 rs_200761477

6 SubmittersRCV000644873RCV001509475RCV002279464RCV002334143RCV003905742
NM_130468.4(CHST14):c.315G>A (p.Arg105=) SNV
Germline		 Chr15:40471528 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type
Cardiovascular phenotype
Ehlers-Danlos syndrome, musculocontractural type 1		 Criteria Provided
Conflicting Classifications
 rs_903042632

3 SubmittersRCV000952129RCV002320170RCV003145239
NM_130468.4(CHST14):c.765C>T (p.Gly255=) SNV
Germline		 Chr15:40471978 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_148053059

3 SubmittersRCV000900589RCV001772167RCV002390887
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln) SNV
Germline		 Chr6:116436429 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type 2
Condition: not provided
Ehlers-Danlos syndrome
DSE-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_61741781

6 SubmittersRCV000914958RCV001664547RCV002279634RCV003923214RCV004029378
NM_013352.4(DSE):c.1381G>A (p.Ala461Thr) SNV
Germline		 Chr6:116435849 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_181711422

2 SubmittersRCV001423842RCV003169338
NM_013352.4(DSE):c.2186G>A (p.Ser729Asn) SNV
Germline		 Chr6:116436654 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_779169990

2 SubmittersRCV001361393RCV002070241
NM_013352.4(DSE):c.189G>A (p.Ser63=) SNV
Germline		 Chr6:116399439 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, musculocontractural type 2		 Criteria Provided
Conflicting Classifications
 rs_953029145

2 SubmittersRCV002278022RCV003096264
NM_013352.4(DSE):c.2184G>A (p.Lys728=) SNV
Germline		 Chr6:116436652 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, musculocontractural type 2		 Criteria Provided
Conflicting Classifications
 rs_150939596

2 SubmittersRCV002278023RCV003101589
NM_130468.4(CHST14):c.711T>A (p.Tyr237Ter) SNV
Germline		 Chr15:40471924 Pathogenic Ehlers-Danlos syndrome, musculocontractural type 1 Criteria Provided
Single Submitter

1 SubmittersRCV002283597
NM_130468.4(CHST14):c.486G>A (p.Trp162Ter) SNV
Germline		 Chr15:40471699 Pathogenic Ehlers-Danlos syndrome, musculocontractural type Criteria Provided
Single Submitter

1 SubmittersRCV002653343
NM_130468.4(CHST14):c.2T>C (p.Met1Thr) SNV
Germline		 Chr15:40471215 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002815956RCV003443083
NM_130468.4(CHST14):c.922C>T (p.Gln308Ter) SNV
Germline		 Chr15:40472135 Pathogenic Ehlers-Danlos syndrome, musculocontractural type 1 Criteria Provided
Single Submitter

1 SubmittersRCV003234954