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Items: 1 to 100 of 177

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ2, LOC125387319
Deletion
Seizures, benign familial neonatal, 1
GPathogenic
KCNQ2
Deletion
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2, LOC125387319
Deletion
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
(R871S +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GBenign/Likely benign
KCNQ2
(R853fs +4 more)
Microsatellite
(frameshift variant)
Seizures, benign familial neonatal, 1
GPathogenic
KCNQ2
(R843fs +4 more)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
KCNQ2
(G838fs +3 more)
Deletion
(frameshift variant)
not provided
GPathogenic
KCNQ2
(S855L +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
KCNQ2
(N780T +4 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+5 more
GBenign
KCNQ2
(C774fs +3 more)
Duplication
(frameshift variant)
Seizures, benign familial neonatal, 1
GPathogenic
KCNQ2
(V710fs +3 more)
Deletion
(frameshift variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GPathogenic
KCNQ2
(S641fs +3 more)
Deletion
(frameshift variant)
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
KCNQ2
(T635fs +3 more)
Deletion
(frameshift variant)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
KCNQ2
(Y644fs +4 more)
Deletion
(frameshift variant)
Seizures, benign familial neonatal, 1
GPathogenic
KCNQ2
(L637R +3 more)
Single nucleotide variant
(missense variant)
Complex neurodevelopmental disorder
+1 more
Gnot provided
KCNQ2
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
KCNQ2
(M591fs +3 more)
Deletion
(frameshift variant)
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
(R595W +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNQ2
(I592M +3 more)
Single nucleotide variant
(missense variant)
Benign Rolandic epilepsy
Gnot provided
KCNQ2
(R588S +3 more)
Single nucleotide variant
(missense variant)
Complex neurodevelopmental disorder
+1 more
Gnot provided
KCNQ2
Single nucleotide variant
(splice acceptor variant)
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
KCNQ2
Deletion
Seizures, benign familial neonatal, 1
GPathogenic
KCNQ2
(R581Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
KCNQ2
(R581G +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic
KCNQ2
(R581* +3 more)
Single nucleotide variant
(nonsense)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GPathogenic
KCNQ2
Indel
(missense variant)
not provided
GPathogenic
KCNQ2
(M578I +3 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KCNQ2
(M578V +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic/Likely pathogenic
KCNQ2
(D563E +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
Gnot provided
KCNQ2
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GBenign/Likely benign
KCNQ2
(D563N +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
+4 more
GPathogenic
KCNQ2
(Y531fs +3 more)
Duplication
(frameshift variant)
Seizures, benign familial neonatal, 1
GPathogenic
KCNQ2
(P561L +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
KCNQ2
(R560W +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
KCNQ2
(K556E +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
KCNQ2
(K526N +3 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KCNQ2
(R553L +3 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KCNQ2
(R553Q +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic
KCNQ2
(R553W +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GPathogenic
KCNQ2
(K552T +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
Gnot provided
KCNQ2
(R547W +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic/Likely pathogenic
KCNQ2
(M546V +3 more)
Single nucleotide variant
(missense variant)
not provided
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 donor variant)
not provided
GPathogenic
KCNQ2
(R541G +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
KCNQ2
(K537* +3 more)
Single nucleotide variant
(nonsense)
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
KCNQ2
(C495fs +3 more)
Deletion
(frameshift variant)
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
Single nucleotide variant
(splice donor variant)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
KCNQ2
(A501P +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
Gnot provided
KCNQ2
(L455fs +3 more)
Deletion
(frameshift variant)
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
(Q461P +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
KCNQ2
(R448* +3 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+4 more
GPathogenic
KCNQ2
Single nucleotide variant
(splice acceptor variant +1 more)
Developmental and epileptic encephalopathy, 7
+1 more
GConflicting classifications of pathogenicity
KCNQ2
(P430S)
Single nucleotide variant
(missense variant +1 more)
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
(P420L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
KCNQ2
Single nucleotide variant
(splice donor variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely pathogenic
KCNQ2
(P411del +1 more)
Microsatellite
(inframe_deletion)
Seizures, benign familial neonatal, 1
GPathogenic
KCNQ2
Single nucleotide variant
(splice donor variant)
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
KCNQ2
Microsatellite
(nonsense)
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
(K398fs +1 more)
Deletion
(frameshift variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic
KCNQ2
Single nucleotide variant
(intron variant +1 more)
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
(T376fs)
Deletion
(frameshift variant +1 more)
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
(Y374C)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
KCNQ2
Single nucleotide variant
(synonymous variant +1 more)
Seizures, benign familial neonatal, 1
GBenign
KCNQ2
(Y362C)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
(T359K)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
KCNQ2
(S358F)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
(L356V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
Gnot provided
KCNQ2
(R353H)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic
KCNQ2
(R353G)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
KCNQ2
(S352P)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
KCNQ2
(L351F)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
KCNQ2
(L351V)
Single nucleotide variant
(missense variant)
Epilepsy, benign neonatal, 1, and/or myokymia
GLikely pathogenic
KCNQ2
(W344R)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely pathogenic
KCNQ2
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 7
Gnot provided
KCNQ2
(L339R)
Single nucleotide variant
(missense variant)
Seizure
GPathogenic
KCNQ2
(A337G)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KCNQ2
(R333Q)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic
KCNQ2
(R333W)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GPathogenic
KCNQ2
(R325G)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
KCNQ2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 7
Gnot provided
KCNQ2
(Q323*)
Single nucleotide variant
(nonsense)
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
(G315R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
GPathogenic
KCNQ2
(S314fs)
Duplication
(frameshift variant)
Seizures, benign familial neonatal, 2
Gnot provided
KCNQ2
Single nucleotide variant
(splice acceptor variant)
Seizures, benign familial neonatal, 1
Gnot provided
KCNQ2
(A309V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
+1 more
GPathogenic
KCNQ2
(A306V)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
KCNQ2
(A306T)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GPathogenic
KCNQ2
(F305del)
Microsatellite
(inframe_deletion)
Seizure
+7 more
GPathogenic/Likely pathogenic
KCNQ2
(F305L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
KCNQ2
(F304S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
KCNQ2
(G301S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
KCNQ2
(T296P)
Single nucleotide variant
(missense variant)
Seizure
GLikely pathogenic
KCNQ2
(A294V)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GPathogenic
KCNQ2
(A294G)
Single nucleotide variant
(missense variant)
Complex neurodevelopmental disorder
+1 more
Gnot provided
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