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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CC2D2A
(E1259* +1 more)
Duplication
(nonsense)
Familial aplasia of the vermis
+5 more
GPathogenic
CC2D2A
(D1556V +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
+7 more
GPathogenic/Likely pathogenic