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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNT2
(L1083R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(P1082S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(T1067I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(Q983H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(L942S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(S1002N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(K963R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
KCNT2
(K984E +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(I906M +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
KCNT2
(M771R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(M773V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(K696N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(P745S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(Y658C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KCNT2
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
KCNT2
(D595G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KCNT2
(S590L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
KCNT2
(P577A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(I574V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
KCNT2
(Q552E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(P532L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(T497A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(I493V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(L536P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KCNT2
(F499I)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(V493A)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GLikely benign
KCNT2
(P411A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(V342A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
KCNT2
(K310T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(R293Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(F258L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(K256R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
KCNT2
(T242N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KCNT2
(H219R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(R190H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
KCNT2
(I181T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(I141V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(Y124S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(L116V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(H94Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(L69F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(F44L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNT2
(V33G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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