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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDX3X
(S136fs +1 more)
Duplication
(frameshift variant +2 more)
Inborn genetic diseases
+1 more
GPathogenic
DDX3X
(R13H +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
GUncertain significance
DDX3X
(R289L +2 more)
Single nucleotide variant
(missense variant +1 more)
Rare genetic intellectual disability
GLikely pathogenic
DDX3X
(H326fs +2 more)
Deletion
(frameshift variant +1 more)
X-linked intellectual disability-hypotonia-movement disorder syndrome
+3 more
GPathogenic
DDX3X
(Y339C +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
GLikely pathogenic
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