{{Rsnum
|rsid=28940272
|Gene=VPS13B
|Chromosome=8
|position=99820031
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.001837
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=VPS13B
}}{{omim
|desc=[[Cohen Syndrome]]
|id=607817
|rsnum=28940272
|variant=0004
}}{{ClinVar
|rsid=28940272
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=100832259
|CHROM=8
|GMAF=0.0018
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000040016110100
|GENEINFO=VPS13B:157680
|GENE_NAME=VPS13B
|GENE_ID=157680
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.100832259A>G
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=8556; 607817.0004
|CLNSIG=5
|CLNCUI=C0265223
|CLNDBN=Cohen syndrome; AllHighlyPenetrant
|Disease=Cohen syndrome; AllHighlyPenetrant
|CLNACC=RCV000002955.1; RCV000081920.1
|Tags=PM;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9982; 0.001837
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1482:C0265223:216550:193:56604005; CN169374
|COMMON=1
}}