{{Rsnum
|rsid=369522997
|Chromosome=1
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=USH2A
|position=216325412
|Gene_s=USH2A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=1
|CLNACC=RCV000041668.1
|CLNALLE=1
|CLNDBN=Retinitis pigmentosa-deafness syndrome
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C0271097:500004:ORPHA231183:ORPHA886:57838006
|CLNHGVS=NC_000001.11:g.216325412T>G
|CLNSIG=4
|Disease=Retinitis pigmentosa-deafness syndrome
|FwdALT=G
|FwdREF=T
|GENEINFO=USH2A:7399
|GENE_ID=7399
|GENE_NAME=USH2A
|REF=T
|RSPOS=216325412
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000a05000002110100
|WGT=1
|dbSNPBuildID=138
|rsid=369522997
|CLNORIGIN=1
|CLNSRC=ClinVar
|CLNSRCID=NM_206933.2:c.1036A>C
}}