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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE6B
(A143D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDE6B-AS1, PDE6B
(L88fs +2 more)
Deletion
(frameshift variant)
Retinitis pigmentosa
GPathogenic
PDE6B
Single nucleotide variant
(intron variant)
not provided
GPathogenic
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