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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(K1065I +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
(W138L +5 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 6B
GLikely pathogenic