{{Rsnum
|rsid=281875238
|Chromosome=9
|position=2116002
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SMARCA2
|Gene_s=SMARCA2
|Assembly=GRCh37.p10
|GenomeBuild=37.5
|dbSNPBuild=138
}}{{ClinVar
|ALT=T
|CHROM=9
|CLNACC=RCV000022908.1; RCV000059683.1
|CLNALLE=1
|CLNDBN=Nicolaides-Baraitser syndrome; not provided
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C1303073:601358:3051:401046009
|CLNHGVS=NC_000009.11:g.2116002C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNSRCID=600014.0001; VAR_068208
|Disease=Nicolaides-Baraitser syndrome; not provided
|FwdALT=T
|FwdREF=C
|REF=C
|RSPOS=2116002
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;SLO;OTHERKG;LSD
|VC=SNV
|VP=0x050168000000000002100100
|WGT=0
|dbSNPBuildID=137
|rsid=281875238
}}{{PMID Auto
|PMID=22366787
|Title=Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
}}