{{Rsnum
|rsid=180177367
|Chromosome=8
|Orientation=plus
|geno1=(-;-)
|geno2=(-;GG)
|geno3=(GG;GG)
|Gene=VPS13B
|position=99766970
|Gene_s=VPS13B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=180177367
|Reversed=0
|FwdREF=GG
|FwdALT=
|REF=AGG
|ALT=AATGGAGC
|RSPOS=100779197
|CHROM=8
|dbSNPBuildID=138
|SSR=0
|SAO=1
|VP=0x050068000000000002100200
|GENEINFO=VPS13B:157680
|GENE_NAME=VPS13B
|GENE_ID=157680
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.100779198_100779199delGGinsATGGAGC
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;PMC;OTHERKG;LSD
|CLNACC=RCV000058904.1
|CLNDBN=not provided
|Disease=not provided
|FwdALT=ATGGAGC
}}{{PMID Auto
|PMID=16648375
|Title=Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
|OA=1
}}