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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDX3X
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 102
GLikely pathogenic
DDX3X
(P41S)
Single nucleotide variant
(missense variant +3 more)
DDX3X-related disorder
+3 more
GPathogenic/Likely pathogenic
DDX3X
(P41H)
Single nucleotide variant
(missense variant +3 more)
Intellectual disability, X-linked 102
GUncertain significance
DDX3X
(Y53* +1 more)
Single nucleotide variant
(nonsense +2 more)
Intellectual disability, X-linked 102
GPathogenic
DDX3X
(T215S +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
GUncertain significance
DDX3X
(V321del +2 more)
Microsatellite
(inframe_deletion +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DDX3X
(L392P +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
GLikely pathogenic
DDX3X
(W235G +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
+1 more
GConflicting classifications of pathogenicity
DDX3X
(E296fs +2 more)
Duplication
(frameshift variant +1 more)
Intellectual disability, X-linked 102
GPathogenic
DDX3X
(H299P +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
+1 more
GConflicting classifications of pathogenicity
DDX3X
(V327I +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
+2 more
GUncertain significance
DDX3X
(Q379* +2 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, X-linked 102
+1 more
GPathogenic
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