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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STK4
(R117*)
Single nucleotide variant
(nonsense)
STK4-related disorder
+2 more
GPathogenic
ACOT8, ACTR5
+124 more
Deletion
Focal-onset seizure
GLikely pathogenic