{{Rsnum
|rsid=120074149
|Chromosome=8
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=VPS13B
|position=99717219
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=VPS13B
}}{{omim
|desc=[[Cohen Syndrome]]
|id=607817
|rsnum=120074149
|variant=0002
}}{{ClinVar
|rsid=120074149
|Reversed=0
|FwdREF=T
|FwdALT=G
|REF=T
|ALT=G
|RSPOS=100729447
|CHROM=8
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=VPS13B:157680
|GENE_NAME=VPS13B
|GENE_ID=157680
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.100729447T>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=607817.0002
|CLNSIG=5
|CLNCUI=C0265223
|CLNDBN=Cohen syndrome
|Disease=Cohen syndrome
|CLNACC=RCV000002953.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1482:C0265223:216550:193:56604005
}}