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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE6A
(I453fs)
Deletion
(frameshift variant)
Autosomal recessive retinitis pigmentosa
GPathogenic
PDE6A
(R102S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity