{{Rsnum
|rsid=80338758
|Chromosome=X
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=MED12
|position=71127367
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=MED12
}}{{omim
|id=300188
|rsnum=80338758
|variant=0001
}}{{ClinVar
|rsid=80338758
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=70347217
|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.70347217C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1676; 300188.0001
|CLNSIG=5
|CLNCUI=C0220769; C0220769
|CLNDBN=FG syndrome
|Disease=FG syndrome
|CLNACC=RCV000012276.21
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1676:C0220769:305450:49984004
}}{{PMID|17334363}} A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.