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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ2
(R871S +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GBenign/Likely benign
KCNQ2
(P638L +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
KCNQ2
(T625fs +3 more)
Duplication
(frameshift variant)
Seizures, benign familial neonatal, 1
GPathogenic
KCNQ2
(R553W +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GPathogenic
KCNQ2
Single nucleotide variant
(splice acceptor variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
KCNQ2
Single nucleotide variant
(splice acceptor variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic/Likely pathogenic
KCNQ2
Single nucleotide variant
(synonymous variant +1 more)
Seizures, benign familial neonatal, 1
GBenign
KCNQ2
(N350K)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
GLikely pathogenic
KCNQ2
(F305del)
Microsatellite
(inframe_deletion)
KCNQ2-related condition
+7 more
GPathogenic/Likely pathogenic
KCNQ2
(E254A)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
GPathogenic
KCNQ2
(G239V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNQ2
(T234A)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
GPathogenic
KCNQ2
Duplication
(inframe_insertion)
Seizures, benign familial neonatal, 1
GLikely pathogenic
KCNQ2
Insertion
(inframe_insertion)
Developmental and epileptic encephalopathy, 7
GPathogenic
KCNQ2
(T217P)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
GLikely pathogenic
KCNQ2
(R213L)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic/Likely pathogenic
KCNQ2
(R213W)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
+4 more
GPathogenic
KCNQ2
(L206P)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
GLikely pathogenic
KCNQ2
(I205V)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
GPathogenic
KCNQ2
(R201C)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
KCNQ2
(M1I)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic
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