{{Rsnum
|rsid=180177358
|Chromosome=8
|Orientation=plus
|geno1=(-;-)
|geno2=(-;GT)
|geno3=(GT;GT)
|Gene=VPS13B
|position=99384318
|Gene_s=VPS13B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=180177358
|Reversed=0
|FwdREF=GT
|FwdALT=
|REF=GGT
|ALT=G
|RSPOS=100396545
|CHROM=8
|dbSNPBuildID=135
|SSR=0
|SAO=1
|VP=0x050068000000000002110200
|GENEINFO=VPS13B:157680
|GENE_NAME=VPS13B
|GENE_ID=157680
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.100396546_100396547delGT
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;PMC;OTHERKG;LSD;OM
|CLNACC=RCV000050070.1; RCV000058894.1
|CLNDBN=Cohen syndrome; not provided
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1482:C0265223:216550:193:56604005
|Disease=Cohen syndrome; not provided
}}{{PMID|16648375|OA=1
}} Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.