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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDX3X
Duplication
(inframe_insertion +2 more)
Intellectual disability, X-linked 102
GUncertain significance
DDX3X
(R125fs +2 more)
Duplication
(frameshift variant +1 more)
Intellectual disability, X-linked 102
GPathogenic
DDX3X
(Q231E +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
GLikely pathogenic
DDX3X
(K232fs +2 more)
Deletion
(frameshift variant +1 more)
Intellectual disability, X-linked 102
+1 more
GPathogenic
DDX3X
(S239* +2 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, X-linked 102
GPathogenic
DDX3X
(R480G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
DDX3X
(A497V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
DDX3X
(I514T +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
+1 more
GPathogenic/Likely pathogenic
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