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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(S1505* +5 more)
Single nucleotide variant
(nonsense +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GPathogenic
LOC102724058, SCN1A
(R1202* +5 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+4 more
GPathogenic