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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STX1B
(S98N)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 9
GLikely pathogenic
STX1B
(Q56fs)
Duplication
(frameshift variant)
Generalized epilepsy with febrile seizures plus, type 9
GPathogenic