{{Rsnum
|rsid=121908250
|Chromosome=18
|Orientation=minus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=CCBE1
|position=59480228
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CCBE1
}}{{omim
|id=612753
|rsnum=121908250
|variant=0001
}}{{ClinVar
|rsid=121908250
|Reversed=1
|FwdREF=T
|FwdALT=A
|REF=A
|ALT=T
|RSPOS=57147460
|CHROM=18
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=CCBE1:147372
|GENE_NAME=CCBE1
|GENE_ID=147372
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000018.9:g.57147460A>T
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=612753.0001; VAR_063746
|CLNSIG=5
|CLNCUI=C0340834
|CLNDBN=Hennekam lymphangiectasia-lymphedema syndrome
|Disease=Hennekam lymphangiectasia-lymphedema syndrome
|CLNACC=RCV000000474.2
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0340834:235510:2136:234146006
}}{{PMID|19911200}} Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

{{PMID|19935664}} Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.