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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDKL5
(V27A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CDKL5
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 2
GPathogenic
CDKL5
(C199R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 2
GLikely pathogenic
CDKL5
(P895L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
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