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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNTNAP2
(Y179C)
Single nucleotide variant
(missense variant)
Focal-onset seizure
+3 more
GLikely benign
CNTNAP2
(N454fs)
Deletion
(frameshift variant)
Cortical dysplasia-focal epilepsy syndrome
GPathogenic/Likely pathogenic