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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDK13
(K734E)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CDK13
(K734R)
Single nucleotide variant
(missense variant)
CDK13-related condition
GPathogenic
CDK13
(N842D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CDK13
(N842S)
Single nucleotide variant
(missense variant)
Global developmental delay
+4 more
GPathogenic/Likely pathogenic
CDK13
Single nucleotide variant
(splice acceptor variant)
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Gnot provided
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