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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACR, ADM2
+34 more
Copy number loss
Chromosome 22q13 duplication syndrome
GPathogenic
A4GALT, ACR
+96 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
BIK, BRD1
+94 more
Deletion
Intellectual disability
GPathogenic
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