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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GUCY2D
(R768W)
Single nucleotide variant
(missense variant)
Choroidal dystrophy, central areolar, 1
+5 more
GPathogenic
GUCY2D
Single nucleotide variant
(splice donor variant)
Cone-rod dystrophy 6
+1 more
GPathogenic