U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDK13
(L403F)
Single nucleotide variant
(missense variant)
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
+1 more
GBenign/Likely benign
CDK13
Single nucleotide variant
(synonymous variant)
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
+1 more
GLikely benign
CDK13
(G717R)
Single nucleotide variant
(missense variant)
Autism spectrum disorder
+3 more
GPathogenic
CDK13
(T727I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
CDK13
(N842S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
CDK13
(G1319S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
Format
Items per page
Sort by
Choose Destination