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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNB1
(M448T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 26
GConflicting classifications of pathogenicity
KCNB1
(V402A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 26
GUncertain significance
KCNB1
(G379V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 26
GPathogenic
KCNB1
(V349F)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 26
+1 more
GPathogenic
KCNB1
(S347R)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+2 more
GPathogenic
KCNB1
(L246R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 26
GConflicting classifications of pathogenicity
KCNB1
(T210M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
KCNB1
(L208R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 26
GLikely pathogenic
KCNB1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 26
GUncertain significance
KCNB1
(L179P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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