RS61751276 RPE65
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What This Variant Does
"CLNSIG=5
Associated Conditions
Leber congenital amaurosis 2
Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy
RPE65-related disorder
Inborn genetic diseases
Autosomal recessive RPE65-related disorders
RPE65-related retinopathy
Leber congenital amaurosis 2
Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis
Retinitis pigmentosa 87 with choroidal involvement
Other Variants in RPE65