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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNT1
(L294R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
GLikely pathogenic
KCNT1
(R398Q +1 more)
Single nucleotide variant
(missense variant)
Seizure
+5 more
GPathogenic/Likely pathogenic
KCNT1
(R474H +1 more)
Single nucleotide variant
(missense variant)
KCNT1-related disorder
+5 more
GConflicting classifications of pathogenicity
KCNT1
Duplication
(nonsense)
KCNT1-related channelopathy
+1 more
GPathogenic/Likely pathogenic
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