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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDX3X
(S228* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
DDX3X
(R376C +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
+1 more
GPathogenic/Likely pathogenic
DDX3X
(P200S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
DDX3X
(R603* +3 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability
+2 more
GPathogenic
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