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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE6B, PDE6B-AS1
(F247I)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 40
+3 more
GConflicting classifications of pathogenicity
PDE6B, PDE6B-AS1
(Q298* +1 more)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa
+3 more
GPathogenic