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Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNT2
(L4W)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
GUncertain significance
KCNT2
(L267H)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
GLikely pathogenic
KCNT2
(N29S)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
GUncertain significance
KCNT2
(G288*)
Single nucleotide variant
(nonsense +1 more)
Developmental and epileptic encephalopathy, 57
GUncertain significance
KCNT2
(R1019* +2 more)
Single nucleotide variant
(nonsense +1 more)
Developmental and epileptic encephalopathy, 57
GLikely pathogenic
KCNT2
(V471I +1 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
GUncertain significance
KCNT2
(D396G)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
GUncertain significance
KCNT2
(N29K)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
GUncertain significance
KCNT2
(D1030N +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
GUncertain significance
KCNT2
(I145fs)
Deletion
(frameshift variant +1 more)
Developmental and epileptic encephalopathy, 57
GLikely pathogenic
KCNT2
(Q276fs)
Deletion
(frameshift variant +1 more)
Developmental and epileptic encephalopathy, 57
GUncertain significance
KCNT2
(T506I +1 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
GLikely pathogenic
KCNT2
(R491* +1 more)
Single nucleotide variant
(nonsense +1 more)
Developmental and epileptic encephalopathy, 57
GPathogenic
KCNT2
(C305S)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
GLikely pathogenic
KCNT2
(L370R)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
GUncertain significance
KCNT2
(R345Q)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
GUncertain significance
KCNT2
(Y870C +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
GUncertain significance
KCNT2
(K366E)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
GLikely pathogenic
KCNT2
(M818V +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
GUncertain significance
KCNT2
(S760fs +2 more)
Deletion
(frameshift variant +1 more)
Developmental and epileptic encephalopathy, 57
GLikely pathogenic
KCNT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
KCNT2
(D820N +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 57
GUncertain significance
KCNT2
(F528fs +1 more)
Deletion
(frameshift variant +1 more)
Developmental and epileptic encephalopathy, 57
GLikely pathogenic
KCNT2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 57
GUncertain significance
KCNT2
(R326G)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
GUncertain significance
KCNT2
(R190P)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
GPathogenic
KCNT2
(R190H)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 57
+2 more
GConflicting classifications of pathogenicity
KCNT2
(T242N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KCNT2
(L48fs)
Deletion
(frameshift variant +1 more)
Seizure
GPathogenic
KCNT2
(K514* +1 more)
Single nucleotide variant
(nonsense +1 more)
Seizure
GLikely pathogenic
KCNT2
(F240L)
Single nucleotide variant
(missense variant +1 more)
KCNT2-related disorder
GPathogenic
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