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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CELF2, CELF2-AS1
(R506G +21 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 97
GPathogenic
CELF2, CELF2-AS1
(P520S +21 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 97
GPathogenic
CELF2, CELF2-AS1
(Y280* +21 more)
Duplication
(nonsense)
Developmental and epileptic encephalopathy 97
GPathogenic
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