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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARFGEF2
(G339R)
Single nucleotide variant
(missense variant)
Periventricular heterotopia with microcephaly, autosomal recessive
+1 more
GUncertain significance
PREX1, PTGIS
+79 more
Copy number loss
Developmental and epileptic encephalopathy, 26
GPathogenic