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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNB1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 26
+1 more
GLikely benign
KCNB1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 26
+1 more
GBenign
KCNB1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 26
+3 more
GBenign/Likely benign
KCNB1
(R433*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 26
+1 more
GPathogenic/Likely pathogenic
KCNB1
(G379E)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 26
+1 more
GPathogenic/Likely pathogenic
KCNB1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 26
+1 more
GLikely benign
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