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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN1A
Single nucleotide variant
(intron variant)
Severe myoclonic epilepsy in infancy
+5 more
GPathogenic
SCN1A
(P189fs)
Deletion
(frameshift variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic/Likely pathogenic