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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDKL5
(R178W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GPathogenic
CDKL5
(P895L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 2
+3 more
GConflicting classifications of pathogenicity