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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARL17B, KANSL1
+6 more
Deletion
Koolen-de Vries syndrome
GPathogenic
LRRC37A2, NSF
(P563R)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 96
GLikely pathogenic