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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ2
(P695L +4 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GUncertain significance
KCNQ2
(A253P)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
KCNQ2
(G30S)
Single nucleotide variant
(missense variant)
Seizure
+3 more
GConflicting classifications of pathogenicity
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