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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDX3X
(R79K +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 102
Gnot provided
DDX3X
(V114F +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
Gnot provided
DDX3X
(R351Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
GLikely pathogenic
DDX3X
(R362C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
DDX3X
(R376C +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
+1 more
GPathogenic/Likely pathogenic
DDX3X
(R376H +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
GPathogenic
DDX3X
(A281S +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
Gnot provided
DDX3X
(V496M +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
GLikely pathogenic
DDX3X
(H326fs +2 more)
Deletion
(frameshift variant +1 more)
X-linked intellectual disability-hypotonia-movement disorder syndrome
+3 more
GPathogenic
DDX3X
(P382S +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
Gnot provided
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