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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRX
(A92T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CRX
(Y142C)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 2
+4 more
GConflicting classifications of pathogenicity
CRX
(P232fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
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