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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNGB1, LOC130059126
Copy number gain
Retinitis pigmentosa 45
GUncertain significance
CNGB1
(S492fs +1 more)
Deletion
(frameshift variant)
Retinitis pigmentosa 45
GPathogenic