{{Rsnum
|rsid=267606970
|Chromosome=14
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=POMT2
|position=77296223
|Gene_s=POMT2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=14
|CLNACC=RCV000003387.1; RCV000030875.1
|CLNALLE=1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet; MedGen:OMIM
|CLNDSDBID=NBK1291:C3150411:613150:588:899; C3150416:613156
|CLNHGVS=NC_000014.8:g.77762566C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=607439.0012; 607439.0014
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies; Congenital muscular dystrophy-dystroglycanopathy with mental retardation
|FwdALT=A
|FwdREF=G
|GENEINFO=POMT2:29954
|GENE_ID=29954
|GENE_NAME=POMT2
|REF=C
|RSPOS=77762566
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267606970
}}