{{Rsnum
|rsid=80338759
|Chromosome=X
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=MED12
|position=71127931
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=MED12
}}{{omim
|id=300188
|rsnum=80338759
|variant=0002
}}{{ClinVar
|rsid=80338759
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=70347781
|CHROM=X
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=MED12:9968
|GENE_NAME=MED12
|GENE_ID=9968
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.70347781A>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1676; 300188.0002
|CLNSIG=5
|CLNCUI=C0796022; C0796022
|CLNDBN=X-linked mental retardation with marfanoid habitus syndrome
|Disease=X-linked mental retardation with marfanoid habitus syndrome
|CLNACC=RCV000012277.11
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1676:C0796022:309520:776:422437002
}}{{PMID Auto
|PMID=6711603
|Title=A form of X-linked mental retardation with marfanoid habitus.
}}

{{PMID Auto
|PMID=17369503
|Title=The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
|OA=1
}}