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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PACS2
(E209K +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
PACS2
(D386N +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 66
GConflicting classifications of pathogenicity