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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM33, ADISSP
+731 more
Copy number gain
Renal agenesis
GPathogenic
PLCB1
(R222*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 12
GPathogenic/Likely pathogenic