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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WWOX
(E17K)
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+2 more
GConflicting classifications of pathogenicity
WWOX
Deletion
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 28
+1 more
GLikely pathogenic
WWOX
(G62*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 28
GPathogenic
WWOX
(L239R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WWOX
Deletion
Epilepsy
+1 more
GPathogenic
WWOX
Deletion
Developmental and epileptic encephalopathy, 28
GPathogenic
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