{{Rsnum
|rsid=121918265
|Chromosome=5
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=NIPBL
|position=37057211
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=NIPBL
}}{{omim
|id=608667
|rsnum=121918265
|variant=0002
}}{{ClinVar
|rsid=121918265
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=37057313
|CHROM=5
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=NIPBL:25836
|GENE_NAME=NIPBL
|GENE_ID=25836
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.37057313A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=608667.0002
|CLNSIG=5
|CLNCUI=CN029798
|CLNDBN=Cornelia de Lange syndrome 1
|Disease=Cornelia de Lange syndrome 1
|CLNACC=RCV000002222.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1104:CN029798:122470:199
}}