{{Rsnum
|rsid=4242182
|Gene=MSX2
|Chromosome=5
|position=174729165
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.2135
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=MSX2
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 78.8 | 19.5 | 1.8
| HCB | 99.3 | 0.7 | 0.0
| JPT | 94.6 | 5.4 | 0.0
| YRI | 11.0 | 38.6 | 50.3
| ASW | 24.6 | 45.6 | 29.8
| CHB | 99.3 | 0.7 | 0.0
| CHD | 95.4 | 3.7 | 0.9
| GIH | 88.9 | 10.1 | 1.0
| LWK | 10.1 | 46.8 | 43.1
| MEX | 73.7 | 26.3 | 0.0
| MKK | 19.5 | 52.6 | 27.9
| TSI | 72.5 | 24.5 | 2.9
| HapMapRevision=28
}}

{{Venter SNP
|rsid=4242182
|allele=C
|frequency=0.85
|uid=1103654298481
|type=homozygous_SNP
|hugo=MSX2
|ensembl gene=ENSG00000120149
|ensembl transcript=ENST00000239243
|sift=TOLERATED
|disease=Defects in MSX2 are the cause of craniosynostosis type 2 (CRS2) (MIM:604757); also known as craniosynostosis Boston-type (CSB). CRS2 is characterized by the premature fusion of calvarial sutures. This developmental anomaly causes abnormal skull shape.
}}

{{PMID Auto
|PMID=16319823
|Title=Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
|OA=1
}}

{{GET Evidence
|gene=MSX2
|aa_change=Met129Thr
|aa_change_short=M129T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4242182
|overall_frequency_n=8105
|overall_frequency_d=10758
|overall_frequency=0.753393
|n_genomes=48
|n_genomes_annotated=0
|n_haplomes=80
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=2
|webscore=N
}}

{{ClinVar
|ALT=C
|CAF=0.2135; 0.7865
|CHROM=5
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.174156168T>C
|CLNSIG=1
|COMMON=1
|FwdALT=C
|FwdREF=T
|GENEINFO=MSX2:4488
|GENE_ID=4488
|GENE_NAME=MSX2
|REF=T
|RSPOS=174156168
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;SLO;NSM;REF;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|VC=SNV
|VP=0x050168000a0115051f100100
|WGT=1
|dbSNPBuildID=111
|rsid=4242182
}}

{{PMID Auto
|PMID=12774039
|Title=Clinical and molecular analysis of nine families with Adams-Oliver syndrome.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}