{{Rsnum
|rsid=201108965
|Chromosome=11
|position=61393965
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=TMEM216
|Gene_s=TMEM216
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=plus
}}{{ClinVar
|ALT=A,T
|CHROM=11
|CLNACC=RCV000000221.1; RCV000024013.1; RCV000000220.2
|CLNALLE=1; 2
|CLNDBN=Joubert syndrome 2; Meckel syndrome type 2
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1325:C1842577:608091:2318; C1864148:603194:564
|CLNHGVS=NC_000011.9:g.61161437G>A; NC_000011.9:g.61161437G>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant; GeneReviews
|CLNSRCID=613277.0002; NBK1325; 613277.0001
|Disease=Joubert syndrome 2; Meckel syndrome type 2
|FwdALT=A,T
|FwdREF=G
|GENEINFO=TMEM216:51259
|GENE_ID=51259
|GENE_NAME=TMEM216
|REF=G
|RSPOS=61161437
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=201108965
}}{{PMID Auto
|PMID=20036350
|Title=Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
|OA=1
}}

{{PMID Auto
|PMID=20512146
|Title=Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
|OA=1
}}