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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CC2D2A
(G217fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+2 more
GPathogenic
CC2D2A
(G1152R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance