{{Rsnum
|rsid=267607237
|Chromosome=12
|position=49026430
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=MLL2
|Gene_s=MLL2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=12
|CLNACC=RCV000007972.1
|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.49420213C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=602113.0001
|Disease=Kabuki make-up syndrome
|FwdALT=A
|FwdREF=G
|GENEINFO=KMT2D:8085
|GENE_ID=8085
|GENE_NAME=KMT2D
|REF=C
|RSPOS=49420213
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267607237
}}