{{Rsnum
|rsid=387907319
|Chromosome=18
|Orientation=plus
|geno1=(-;-)
|geno2=(-;TGATA)
|geno3=(TGATA;TGATA)
|Gene=SMCHD1
|position=2698001
|Gene_s=SMCHD1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=18
|CLNACC=RCV000033082.3
|CLNALLE=1
|CLNDBN=Facioscapulohumeral muscular dystrophy 2
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1443:C1834671:158901:269
|CLNHGVS=NC_000018.9:g.2697999_2698003delTGATA
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=614982.0001
|Disease=Facioscapulohumeral muscular dystrophy 2
|FwdREF=TGATA
|REF=ATGATA
|RSPOS=2697998
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050060000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=387907319
|GENEINFO=SMCHD1:23347
|GENE_ID=23347
|GENE_NAME=SMCHD1
}}