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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(R1634Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+5 more
GPathogenic
LOC102724058, SCN1A
Deletion
(nonsense +1 more)
Epileptic encephalopathy
GPathogenic
LOC102724058, SCN1A
(N1594I +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
GLikely pathogenic
LOC102724058, SCN1A
(S1203* +5 more)
Duplication
(nonsense +1 more)
Severe myoclonic epilepsy in infancy
GPathogenic
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