{{Rsnum
|rsid=386834201
|Chromosome=8
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=TMEM67
|position=93758557
|Gene_s=TMEM67
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=8
|CLNACC=RCV000050195.1
|CLNALLE=1
|CLNDBN=Meckel syndrome type 3
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1846357:607361:564
|CLNHGVS=NC_000008.10:g.94770785T>A
|CLNSIG=4
|Disease=Meckel syndrome type 3
|FwdALT=A
|FwdREF=T
|REF=T
|RSPOS=94770785
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=386834201
|GENEINFO=TMEM67:91147
|GENE_ID=91147
|GENE_NAME=TMEM67
}}{{PMID Auto
|PMID=20232449
|Title=Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
|OA=1
}}