{{Rsnum
|rsid=267606968
|Chromosome=14
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=POMT2
|position=77285520
|Gene_s=POMT2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=14
|CLNACC=RCV000003392.1
|CLNALLE=1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=NBK1291:C3150411:613150:588:899
|CLNHGVS=NC_000014.8:g.77751863C>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=607439.0019
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
|FwdALT=T
|FwdREF=G
|GENEINFO=POMT2:29954
|GENE_ID=29954
|GENE_NAME=POMT2
|REF=C
|RSPOS=77751863
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267606968
}}