{{Rsnum
|rsid=80044281
|Chromosome=14
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SPATA7
|position=88416794
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SPATA7
}}{{omim
|id=609868
|rsnum=80044281
|variant=0001
}}{{ClinVar
|rsid=80044281
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=88883138
|CHROM=14
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=SPATA7:55812
|GENE_NAME=SPATA7
|GENE_ID=55812
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.88883138C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1298; 609868.0001
|CLNSIG=5
|CLNCUI=C1858677
|CLNDBN=Leber congenital amaurosis 3
|Disease=Leber congenital amaurosis 3
|CLNACC=RCV000001460.2
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1298:C1858677:604232
}}{{PMID|19268277|OA=1
}} Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.