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Items: 13

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
(I198del +2 more)
Deletion
(inframe_deletion +1 more)
Intellectual disability, X-linked 102
GPathogenic
DDX3X
(R260fs +2 more)
Microsatellite
(frameshift variant +1 more)
Intellectual disability, X-linked 102
GPathogenic
DDX3X
(Y291* +2 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, X-linked 102
GPathogenic
DDX3X
(R326H +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
+2 more
GPathogenic
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
Indel
(missense variant +1 more)
Intellectual disability, X-linked 102
GPathogenic
DDX3X
(V496M +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
GLikely pathogenic
DDX3X
(G504E +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
GPathogenic
DDX3X
(I507T +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
GPathogenic
DDX3X
(H326fs +2 more)
Deletion
(frameshift variant +1 more)
X-linked intellectual disability-hypotonia-movement disorder syndrome
+3 more
GPathogenic
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