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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(E1802K +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
SCN1A
(I448T)
Single nucleotide variant
(missense variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
+5 more
GUncertain significance