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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPE65
(N301S)
Single nucleotide variant
(missense variant)
RPE65-related recessive retinopathy
GUncertain significance
RPE65
(H29R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 87 with choroidal involvement
+2 more
GUncertain significance