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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ2
(P852L +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
KCNQ2
(R736Q +3 more)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
+3 more
GConflicting classifications of pathogenicity
KCNQ2
(R760C +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GUncertain significance
KCNQ2
Single nucleotide variant
(intron variant)
not provided
+3 more
GUncertain significance
KCNQ2
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GBenign/Likely benign
KCNQ2
(D563N +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GPathogenic
KCNQ2
(V543M +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
KCNQ2
(A502V +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KCNQ2
Single nucleotide variant
(synonymous variant)
Seizures, benign familial neonatal, 1
+3 more
GConflicting classifications of pathogenicity
KCNQ2
(A306V)
Single nucleotide variant
(missense variant)
KCNQ2-related disorder
+5 more
GPathogenic
KCNQ2
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GLikely benign
KCNQ2
(R213Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
+4 more
GPathogenic/Likely pathogenic
KCNQ2
(R207Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
KCNQ2
(Y127C)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GPathogenic/Likely pathogenic
KCNQ2
(S122L)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
+4 more
GPathogenic/Likely pathogenic
KCNQ2
Microsatellite
(inframe_insertion)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GUncertain significance
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