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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN1B
Single nucleotide variant
(splice acceptor variant)
Brugada syndrome 5
+1 more
GConflicting classifications of pathogenicity
SCN1B
(T179S +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 1
GUncertain significance
ALKBH6, APLP1
+79 more
Copy number loss
Generalized epilepsy with febrile seizures plus, type 1
GPathogenic
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