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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WWOX
(Y85*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+2 more
GPathogenic
WWOX
(S250* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 1
+3 more
GPathogenic/Likely pathogenic