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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE6A
(Q654*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 43
GPathogenic
PDE6A
(R100Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 43
+3 more
GConflicting classifications of pathogenicity
PDE6A
(D92N)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
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