{{Rsnum
|rsid=398123723
|Chromosome=12
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=KMT2D
|position=49026862
|Gene_s=KMT2D
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=12
|CLNACC=RCV000080142.1
|CLNALLE=1
|CLNDBN=not provided
|CLNHGVS=NC_000012.11:g.49420645C>G
|CLNSIG=4
|CLNSRC=Emory University
|CLNSRCID=8252
|Disease=not provided
|FwdALT=C
|FwdREF=G
|GENEINFO=KMT2D:8085
|GENE_ID=8085
|GENE_NAME=KMT2D
|REF=C
|RSPOS=49420645
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD
|VC=SNV
|VP=0x050060000000000002100100
|WGT=0
|dbSNPBuildID=138
|rsid=398123723
}}