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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ2
Single nucleotide variant
(3 prime UTR variant)
KCNQ2-related condition
+3 more
GBenign/Likely benign
KCNQ2
(R871S +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GBenign/Likely benign
KCNQ2
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GBenign/Likely benign
KCNQ2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KCNQ2
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GBenign/Likely benign
KCNQ2
(I834V +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
KCNQ2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
KCNQ2
(N780T +4 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign
KCNQ2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNQ2
(Y755C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
KCNQ2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign
KCNQ2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
KCNQ2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
KCNQ2
(T696M +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
KCNQ2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCNQ2
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GBenign/Likely benign
KCNQ2
(R647Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNQ2
Single nucleotide variant
(intron variant)
Seizures, benign familial neonatal, 1
+3 more
GUncertain significance
KCNQ2
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
KCNQ2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
KCNQ2
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
KCNQ2
(G576fs +3 more)
Deletion
(frameshift variant)
not provided
GPathogenic
KCNQ2
(T605S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
KCNQ2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
KCNQ2
(V543M +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GConflicting classifications of pathogenicity
KCNQ2
(E515D +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
KCNQ2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
KCNQ2
(V450M +3 more)
Single nucleotide variant
(missense variant)
KCNQ2-related condition
+4 more
GBenign/Likely benign
KCNQ2
Single nucleotide variant
(synonymous variant)
Seizures, benign familial neonatal, 1
+3 more
GConflicting classifications of pathogenicity
KCNQ2
(R448* +3 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+4 more
GPathogenic
KCNQ2
Microsatellite
(intron variant)
not specified
+2 more
GBenign
KCNQ2
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
KCNQ2
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
KCNQ2
(P420L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
KCNQ2
(P401fs +1 more)
Duplication
(frameshift variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GPathogenic/Likely pathogenic
KCNQ2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
KCNQ2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
KCNQ2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
KCNQ2
(Y374H)
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GPathogenic
KCNQ2
(Y363C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNQ2
(T287I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ2
(G281R)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
KCNQ2
(T274M)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GPathogenic/Likely pathogenic
KCNQ2
(A265T)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GPathogenic/Likely pathogenic
KCNQ2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
KCNQ2
(E254G)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
KCNQ2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
KCNQ2
(T234I)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
KCNQ2
(R214W)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic/Likely pathogenic
KCNQ2
(R213W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic
KCNQ2
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GBenign/Likely benign
KCNQ2
(K162R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNQ2
(R155C)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
KCNQ2
Single nucleotide variant
(synonymous variant)
KCNQ2-related condition
+3 more
GBenign/Likely benign
KCNQ2
(K49fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
KCNQ2
(T35fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
KCNQ2
(M1K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
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