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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNA2
(V406F)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 32
GPathogenic/Likely pathogenic
KCNA2
(P405L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
KCNA2
(R294H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
KCNA2
(T184I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 32
GUncertain significance
KCNA2
(R97Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 32
GUncertain significance
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