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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
KCNQ2
(N780T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GBenign
KCNQ2
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
KCNQ2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
KCNQ2
(R553W +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GPathogenic
KCNQ2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
KCNQ2
(V450M +3 more)
Single nucleotide variant
(missense variant)
KCNQ2-related disorder
+4 more
GBenign/Likely benign
KCNQ2
(R333W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
KCNQ2
(A306V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
+5 more
GPathogenic
KCNQ2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
KCNQ2
(G301S)
Single nucleotide variant
(missense variant)
Febrile seizures, familial, 8
+4 more
GPathogenic
KCNQ2
(R201H)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic
KCNQ2
(A196V)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GPathogenic
KCNQ2
(R144W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
KCNQ2
(S122L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
+4 more
GPathogenic/Likely pathogenic
KCNQ2
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GBenign
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