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Links from Gene

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNA2
(Q146H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNA2
(G387R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNA2
(R99G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNA2
(I409N)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 32
GUncertain significance
KCNA2
(E121G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 32
GUncertain significance
KCNA2
(A262V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 32
GLikely pathogenic
KCNA2
(M459V)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 32
GUncertain significance
KCNA2
(F302L)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 1
GLikely pathogenic
KCNA2
(V499A)
Single nucleotide variant
(missense variant +1 more)
Seizure
+1 more
GUncertain significance
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