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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNB1
(E655K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 26
GConflicting classifications of pathogenicity
KCNB1
(K309R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 26
GUncertain significance
KCNB1
(R11S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 26
GUncertain significance
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