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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP290
(N2290fs)
Deletion
(frameshift variant)
Joubert syndrome 5
+5 more
GPathogenic
CEP290
(I1059fs)
Duplication
(frameshift variant)
not provided
+6 more
GPathogenic