| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CDK13, LOC129998292 (A162fs) | Duplication (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | |
| | | Single nucleotide variant (missense variant) | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | |
| | | Single nucleotide variant (missense variant) | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | |
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