{{Rsnum
|rsid=111033271
|Chromosome=10
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=CDH23
|position=71793370
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CDH23
}}{{omim
|id=605516
|rsnum=111033271
|variant=0008
}}{{ClinVar
|rsid=111033271
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=73553127
|CHROM=10
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000000002110100
|GENEINFO=CDH23:64072
|GENE_NAME=CDH23
|GENE_ID=64072
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.73553127G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605516.0008
|CLNSIG=5
|CLNCUI=C1832394
|CLNDBN=Deafness, autosomal recessive 12; Hereditary hearing loss and deafness; Retinitis pigmentosa-deafness syndrome
|Disease=Deafness; Hereditary hearing loss and deafness; Retinitis pigmentosa-deafness syndrome
|CLNACC=RCV000005204.1; RCV000039246.1
|Tags=PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:SNOMED_CT; MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1434:C1832394:601386:90636; NBK1434:C0236038:95827002; C0271097:500004:231183:886:57838006
}}{{PMID|12075507|OA=1
}} CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

{{PMID|12522556}} Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

{{PMID|15353998}} Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).