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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ2
(R522G +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
GLikely pathogenic
KCNQ2
(Q390* +1 more)
Single nucleotide variant
(nonsense)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic/Likely pathogenic
KCNQ2
(R373I +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
GUncertain significance
KCNQ2
(M371V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
+1 more
GUncertain significance
KCNQ2
(F316L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
GUncertain significance
KCNQ2
(P308L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
+1 more
GPathogenic/Likely pathogenic
KCNQ2
(G301S)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+3 more
GPathogenic
KCNQ2
(G290S)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GPathogenic
KCNQ2
(Y280H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
+1 more
GPathogenic
KCNQ2
(G279V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
GLikely pathogenic
KCNQ2
(T274M)
Single nucleotide variant
(missense variant)
West syndrome
+3 more
GPathogenic/Likely pathogenic
KCNQ2
(W236R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
GLikely pathogenic
KCNQ2
(R201C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
KCNQ2
(N190I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
GUncertain significance
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