{{Rsnum
|rsid=386834101
|Chromosome=8
|position=99699823
|Orientation=plus
|geno1=(-;-)
|geno2=(-;GA)
|geno3=(GA;GA)
|Gene=VPS13B
|Gene_s=VPS13B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=plus
}}{{ClinVar
|ALT=A
|CHROM=8
|CLNACC=RCV000050094.1
|CLNALLE=1
|CLNDBN=Cohen syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1482:C0265223:216550:193:56604005
|CLNHGVS=NC_000008.10:g.100712051_100712052delGA
|CLNSIG=4
|Disease=Cohen syndrome
|FwdREF=GA
|REF=AGA
|RSPOS=100712050
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050068000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=386834101
|GENEINFO=VPS13B:157680
|GENE_ID=157680
|GENE_NAME=VPS13B
}}{{PMID Auto
|PMID=12730828
|Title=Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.
|OA=1
}}

{{PMID Auto
|PMID=15141358
|Title=Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.
|OA=1
}}