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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP1A3
(D801N +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 99
+6 more
GPathogenic
ATP1A3
Deletion
(inframe_deletion)
Epileptic encephalopathy
GLikely pathogenic