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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE6A
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 43
GPathogenic
PDE6A
(Y583*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 43
+2 more
GPathogenic