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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNA2
(V399M)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
KCNA2
(K247E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNA2
(D79N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 32
GUncertain significance
AHCYL1, AKNAD1
+47 more
Deletion
not provided
Gnot provided
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