{{Rsnum
|rsid=386834080
|Chromosome=8
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=VPS13B
|position=99442617
|Gene_s=VPS13B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=8
|CLNACC=RCV000050071.1
|CLNALLE=1
|CLNDBN=Cohen syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1482:C0265223:216550:193:56604005
|CLNHGVS=NC_000008.10:g.100454845C>T
|CLNSIG=4
|Disease=Cohen syndrome
|FwdALT=T
|FwdREF=C
|REF=C
|RSPOS=100454845
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=386834080
|GENEINFO=VPS13B:157680
|GENE_ID=157680
|GENE_NAME=VPS13B
}}{{PMID Auto
|PMID=17990063
|Title=Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
}}

{{PMID Auto
|PMID=20461111
|Title=High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
|OA=1
}}