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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MECP2
(R306C +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GPathogenic
MECP2
(T158M +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
+9 more
GPathogenic/Likely pathogenic