Total 16 pathogenic variants reported for Ehlers-Danlos syndrome, musculocontractural type 1

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 SubmittersRCV000002427 RCV001290021
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	7 SubmittersRCV000002429 RCV000523135 RCV001290020 RCV002444414
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 SubmittersRCV000002430 RCV001290019
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_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	7 SubmittersRCV000500082 RCV001561424 RCV002271341 RCV003962376
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	CA268822333	rs_903042632	3 SubmittersRCV000952129 RCV002320170 RCV003145239
NM_130468.4(CHST14):c.711T>A (p.Tyr237Ter)	SNV Germline	Chr15:40471924	Pathogenic	Ehlers-Danlos syndrome, musculocontractural type 1	Criteria Provided Single Submitter	CA391766744	rs_2543006302	1 SubmittersRCV002283597
NM_130468.4(CHST14):c.922C>T (p.Gln308Ter)	SNV Germline	Chr15:40472135	Pathogenic	Ehlers-Danlos syndrome, musculocontractural type 1	Criteria Provided Single Submitter	CA391768030	rs_373443856	1 SubmittersRCV003234954
NM_130468.4(CHST14):c.626T>C (p.Phe209Ser)	SNV Germline	Chr15:40471839	Likely pathogenic	Ehlers-Danlos syndrome, musculocontractural type 1	Criteria Provided Single Submitter			1 SubmittersRCV005882595