{{Rsnum
|rsid=398123750
|Chromosome=12
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=KMT2D
|position=49042880
|Gene_s=KMT2D
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=12
|CLNACC=RCV000080193.1
|CLNALLE=1
|CLNDBN=not provided
|CLNHGVS=NC_000012.11:g.49436663T>C
|CLNSIG=5
|Disease=not provided
|FwdALT=G
|FwdREF=A
|GENEINFO=KMT2D:8085
|GENE_ID=8085
|GENE_NAME=KMT2D
|REF=T
|RSPOS=49436663
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD
|VC=SNV
|VP=0x050060000000000002100100
|WGT=0
|dbSNPBuildID=138
|rsid=398123750
}}