{{Rsnum
|rsid=386834067
|Chromosome=8
|position=99871657
|Orientation=plus
|geno1=(AA;AA)
|geno2=(AA;CAGTG)
|geno3=(CAGTG;CAGTG)
|Gene=VPS13B
|Gene_s=VPS13B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=AAA
|CHROM=8
|CLNACC=RCV000050054.1
|CLNALLE=1
|CLNDBN=Cohen syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1482:C0265223:216550:193:56604005
|CLNHGVS=NC_000008.10:g.100883885_100883889delCAGTGinsAA
|CLNSIG=4
|Disease=Cohen syndrome
|FwdALT=AA
|FwdREF=CAGTG
|REF=ACAGTG
|RSPOS=100883884
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050068000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=386834067
|GENEINFO=VPS13B:157680
|GENE_ID=157680
|GENE_NAME=VPS13B
}}{{PMID Auto
|PMID=16648375
|Title=Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
|OA=1
}}