{{Rsnum
|rsid=80358372
|Chromosome=5
|Orientation=plus
|geno1=(-;-)
|geno2=(-;GA)
|geno3=(GA;GA)
|Gene=NIPBL
|position=37017048
|Gene_s=NIPBL
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80358372
|Reversed=0
|FwdREF=GA
|FwdALT=
|REF=AGA
|ALT=A
|RSPOS=37017147
|CHROM=5
|dbSNPBuildID=132
|SSR=0
|SAO=0
|VP=0x050060000000000002110200
|GENEINFO=NIPBL:25836
|GENE_NAME=NIPBL
|GENE_ID=25836
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.37017150_37017151delGA
|CLNSIG=5
|CLNCUI=122470
|CLNDBN=Cornelia de Lange syndrome 1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1104:CN029798:122470:199
|Disease=Cornelia de Lange syndrome 1
|CLNACC=RCV000086380.1
}}