{{Rsnum
|rsid=180177374
|Chromosome=8
|Orientation=plus
|geno1=(-;-)
|geno2=(-;C)
|geno3=(C;C)
|Gene=VPS13B
|position=99875504
|Gene_s=VPS13B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=180177374
|Reversed=0
|FwdALT=C
|REF=G
|ALT=GC
|RSPOS=100887727
|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.100887732dupC
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;PMC;OTHERKG;LSD;OM
|CLNACC=RCV000050057.1; RCV000058889.1
|CLNDBN=Cohen syndrome; not provided
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1482:C0265223:216550:193:56604005
|Disease=Cohen syndrome; not provided
}}{{PMID Auto
|PMID=16648375
|Title=Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
|OA=1
}}{{PMID Auto
|PMID=15141358
|Title=Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.
|OA=1
}}