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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(P1826L +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
(L1298F +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
+2 more
GConflicting classifications of pathogenicity