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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP290
(I364M)
Single nucleotide variant
(missense variant)
not provided
+14 more
GConflicting classifications of pathogenicity
CEP290
(N212Y)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+3 more
GUncertain significance