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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(L1304fs +5 more)
Microsatellite
(frameshift variant +1 more)
Severe myoclonic epilepsy in infancy
+1 more
GPathogenic
SCN1A
Single nucleotide variant
(splice donor variant)
Severe myoclonic epilepsy in infancy
+7 more
GPathogenic