{{Rsnum
|rsid=104893639
|Chromosome=2
|Orientation=minus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=MATN3
|position=20003167
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=AC079145.4,MATN3
}}{{omim
|id=602109
|rsnum=104893639
|variant=0005
}}{{ClinVar
|rsid=104893639
|Reversed=1
|FwdREF=T
|FwdALT=A
|REF=A
|ALT=T
|RSPOS=20202928
|CHROM=2
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=MATN3:4148
|GENE_NAME=MATN3
|GENE_ID=4148
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.20202928A>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNACC=RCV000007980.1; RCV000055879.1
|CLNDBN=SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATN3-RELATED; Spondyloepimetaphyseal dysplasia Matrilin-3 related
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1123; 602109.0005
|Disease=SPONDYLOEPIMETAPHYSEAL DYSPLASIA; Spondyloepimetaphyseal dysplasia Matrilin-3 related
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1123:C1837481:608728:156728
}}