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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDKL5
Single nucleotide variant
(synonymous variant)
CDKL5 disorder
GBenign
CDKL5, RS1
(E72G)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic