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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(V1773D +5 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
SCN1A
(P346L)
Single nucleotide variant
(missense variant +2 more)
Severe myoclonic epilepsy in infancy
+1 more
GLikely pathogenic
SCN1A
(T226M)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy 6B
+6 more
GPathogenic
SCN1A
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 76
+7 more
GPathogenic
SCN1A
(S169P)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
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