{{Rsnum
|rsid=80359850
|Chromosome=8
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ESCO2
|position=27776912
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ESCO2
}}{{omim
|id=609353
|rsnum=80359850
|variant=0006
}}{{ClinVar
|rsid=80359850
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=27634429
|CHROM=8
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=ESCO2:157570
|GENE_NAME=ESCO2
|GENE_ID=157570
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.27634429C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1153; 609353.0006
|CLNSIG=5
|CLNCUI=C0392475; C0392475
|CLNDBN=Roberts-SC phocomelia syndrome
|Disease=Roberts-SC phocomelia syndrome
|CLNACC=RCV000001810.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1153:C0392475:268300:269000:3103:48718006
}}{{PMID Auto
|PMID=3740099
|Title=SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma.
}}

{{PMID Auto
|PMID=16380922
|Title=Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
|OA=1
}}