U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDK13
(W17*)
Single nucleotide variant
(nonsense)
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
GUncertain significance
CDK13, LOC129998293
(R203C)
Single nucleotide variant
(missense variant)
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
GUncertain significance
CDK13
(N842I)
Single nucleotide variant
(missense variant)
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
GUncertain significance
CDK13
(N842S)
Single nucleotide variant
(missense variant)
Marfanoid habitus and intellectual disability
+4 more
GPathogenic/Likely pathogenic
Format
Sort by
Choose Destination