List of variants reported as likely pathogenic for facioscapulohumeral muscular dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 18p11.32(chr18:2795896-2802599)x1
NC_000018.9:g.(?_2718136)_(2743946_?)dup
NC_000018.9:g.(?_2738375)_(2802550_?)del
NM_015295.3(SMCHD1):c.1286ATC[1] (p.His430del)	rs886044914
NM_015295.3(SMCHD1):c.1647+1G>T
NM_015295.3(SMCHD1):c.1717_1720del (p.Lys572_Gln573insTer)
NM_015295.3(SMCHD1):c.182_183del (p.Cys61fs)
NM_015295.3(SMCHD1):c.2008G>T (p.Asp670Tyr)	rs2143241656
NM_015295.3(SMCHD1):c.262+1G>A
NM_015295.3(SMCHD1):c.3015dup (p.Asp1006fs)
NM_015295.3(SMCHD1):c.3323T>C (p.Leu1108Pro)	rs2143530610
NM_015295.3(SMCHD1):c.3529G>T (p.Asp1177Tyr)	rs1568280995
NM_015295.3(SMCHD1):c.3679G>C (p.Gly1227Arg)	rs1204021010
NM_015295.3(SMCHD1):c.4719+1G>T	rs886044369
NM_015295.3(SMCHD1):c.4966+5G>A	rs1598426626
NM_015295.3(SMCHD1):c.5145_5146del (p.Tyr1715_Thr1716insTer)
NM_015295.3(SMCHD1):c.790G>A (p.Glu264Lys)	rs867104086

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.