{{Rsnum
|rsid=80338745
|Chromosome=2
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=LRP2
|position=169280348
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=LRP2
}}{{omim
|id=600073
|rsnum=80338745
|variant=0007
}}{{ClinVar
|rsid=80338745
|Reversed=1
|FwdREF=T
|FwdALT=G
|REF=A
|ALT=C
|RSPOS=170136858
|CHROM=2
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=LRP2:4036
|GENE_NAME=LRP2
|GENE_ID=4036
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.170136858A>C
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1878; 600073.0007
|CLNSIG=5
|CLNCUI=C1857277; C1857277
|CLNDBN=Donnai Barrow syndrome
|Disease=Donnai Barrow syndrome
|CLNACC=RCV000010064.1
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1878:C1857277:222448:2143
}}{{PMID|9475100|OA=1
}} Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.

{{PMID|17632512|OA=1
}} Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.