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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNHG14, UBE3A
(R356* +3 more)
Single nucleotide variant
(nonsense +2 more)
Angelman syndrome
+1 more
GPathogenic
MECP2
(L398fs +2 more)
Deletion
(frameshift variant)
MECP2-related condition
+3 more
GPathogenic
MECP2
(R133C +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GPathogenic
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