{{Rsnum
|rsid=72554028
|Gene=NKX2-5
|Chromosome=5
|position=173233001
|Orientation=minus
|GMAF=0.00551
|Gene_s=NKX2-5
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ClinVar
|rsid=72554028
|Reversed=1
|FwdREF=G
|FwdALT=A,C
|REF=C
|ALT=G,T
|RSPOS=172660004
|CHROM=5
|GMAF=0.0055
|dbSNPBuildID=130
|SSR=0
|SAO=3
|VP=0x050378000000040016110100
|GENEINFO=NKX2-5:1482
|GENE_NAME=NKX2-5
|GENE_ID=1482
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000005.9:g.172660004C>G; NC_000005.9:g.172660004C>T
|CLNSRC=Correlagen
|CLNORIGIN=1; 3
|CLNSIG=4
|CLNCUI=
|CLNDBN=Atrial septal defect 7 with or without atrioventricular conduction defects; Atrial septal defect
|Disease=Atrial septal defect 7 with or without atrioventricular conduction defects; Atrial septal defect
|CLNACC=
RCV000030338.1; RCV000030337.1
|Tags=RV;PM;TPA;PMC;S3D;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9945; 0.00551
|CLNDSDB=MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=C1862388:108900:1479; C0018817
|COMMON=1
}}{{PMID|15161646|OA=1
}} Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.

{{PMID|18976153}} Clinical and molecular analysis of thyroid hypoplasia: a population-based approach in southern Brazil.

{{PMID|19181906|OA=1
}} Investigation of somatic NKX2-5 mutations in congenital heart disease.

{{PMID|19464101}} Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale.