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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHX30
(H562R +2 more)
Single nucleotide variant
(missense variant)
Sleep abnormality
+6 more
GPathogenic
FOXG1
(Y208*)
Single nucleotide variant
(nonsense)
Rett syndrome, congenital variant
GPathogenic