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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ2
(R547G +3 more)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
GLikely pathogenic
KCNQ2
(T274M)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GPathogenic/Likely pathogenic