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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WWOX
(R54*)
Single nucleotide variant
(nonsense +2 more)
Developmental and epileptic encephalopathy, 28
+2 more
GPathogenic
WWOX
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 28
GPathogenic
WWOX
Single nucleotide variant
(splice acceptor variant)
WWOX-related disorder
+4 more
GPathogenic
WWOX
(R197P +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 28
GLikely pathogenic
WWOX
Deletion
Developmental and epileptic encephalopathy, 28
GLikely pathogenic
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