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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MECP2
(H147fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(P342R +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
+1 more
GUncertain significance
MECP2
(R294* +3 more)
Single nucleotide variant
(nonsense)
Rett syndrome
GPathogenic
MECP2
(G176fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(R255* +3 more)
Single nucleotide variant
(nonsense)
Abnormality of the nervous system
+9 more
GPathogenic/Likely pathogenic
MECP2
(R168* +2 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+8 more
GPathogenic
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