{{Rsnum
|rsid=398122929
|Chromosome=X
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=KDM6A
|position=45089911
|Gene_s=KDM6A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=X
|CLNACC=RCV000033119.22
|CLNALLE=1
|CLNDBN=Kabuki syndrome 2
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C3275495:300867:2322
|CLNHGVS=NC_000023.10:g.44949156G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=300128.0002
|Disease=Kabuki syndrome 2
|FwdALT=A
|FwdREF=G
|GENEINFO=KDM6A:7403
|GENE_ID=7403
|GENE_NAME=KDM6A
|REF=G
|RSPOS=44949156
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=138
|rsid=398122929
}}