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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPE65
(H313R)
Single nucleotide variant
(missense variant)
RPE65-related recessive retinopathy
GPathogenic
RPE65
(V287F)
Single nucleotide variant
(missense variant)
RPE65-related recessive retinopathy
GLikely pathogenic