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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNA2
(Y212*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 32
GPathogenic
KCNA2
(C181Y)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 32
GUncertain significance