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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MECP2
(H145Y +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
+2 more
GConflicting classifications of pathogenicity
MECP2
(A358T +3 more)
Single nucleotide variant
(missense variant)
MECP2-related condition
+5 more
GBenign/Likely benign
MECP2
(A279V +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-psychosis-macroorchidism syndrome
+3 more
GConflicting classifications of pathogenicity
MECP2
(G231R +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GLikely benign
MECP2
(S134C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
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