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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE6D
(M117V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PDE6D
(R23W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance