{{Rsnum
|rsid=267607239
|Chromosome=12
|position=49022332
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=MLL2
|Gene_s=MLL2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=12
|CLNACC=RCV000007974.2
|CLNALLE=1
|CLNDBN=Kabuki make-up syndrome
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1420:NBK62111:C0796004:147920:2322:313426007
|CLNHGVS=NC_000012.11:g.49416115G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=602113.0003
|Disease=Kabuki make-up syndrome
|FwdALT=T
|FwdREF=C
|GENEINFO=KMT2D:8085
|GENE_ID=8085
|GENE_NAME=KMT2D
|REF=G
|RSPOS=49416115
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267607239
}}