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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE6A
(V685M)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GPathogenic
PDE6A
(R102S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 43
+3 more
GConflicting classifications of pathogenicity