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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA2D4
Deletion
Cone dystrophy
GLikely pathogenic
CACNA2D4
(R628*)
Single nucleotide variant
(nonsense)
Retinal cone dystrophy 4
+1 more
GConflicting classifications of pathogenicity