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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(R1585C +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+4 more
GPathogenic/Likely pathogenic
SCN1A, LOC102724058
(G1314* +5 more)
Single nucleotide variant
(nonsense +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(A121P)
Single nucleotide variant
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
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