RS1057518922 RPE65

Health Risk Chr 1:68431281
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What This Variant Does
"CLNSIG=5
Associated Conditions
Abnormality of vision
Abnormal electroretinogram
Congenital blindness
Retinal degeneration
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinal dystrophy
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy
Abnormality of vision
Abnormal electroretinogram
Congenital blindness
Retinal degeneration
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Other Variants in RPE65
rs61752895 rs61752871 rs62637004 rs121917744 rs61752909 rs121917745 rs62653011 rs61752904 rs62636300 rs281865520
Ask Dr. Hemsworth about this variant