{{Rsnum
|rsid=281875322
|Chromosome=18
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SMAD4
|position=51078306
|Gene_s=SMAD4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=18
|CLNACC=RCV000023061.4; RCV000059733.1
|CLNALLE=1
|CLNDBN=Myhre syndrome; not provided
|CLNDSDB=MedGen:OMIM:OMIM:Orphanet
|CLNDSDBID=C0796081:139210:603391:2588
|CLNHGVS=NC_000018.9:g.48604676A>G
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNSRCID=600993.0016; VAR_067604
|Disease=Myhre syndrome; not provided
|FwdALT=G
|FwdREF=A
|REF=A
|RSPOS=48604676
|Reversed=0
|SAO=3
|SSR=0
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050368000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=281875322
|CLNORIGIN=33
|GENEINFO=SMAD4:4089
|GENE_ID=4089
|GENE_NAME=SMAD4
}}{{PMID Auto
|PMID=22158539
|Title=Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
}}

{{PMID Auto
|PMID=22243968
|Title=A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
|OA=1
}}