| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 4 +2 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | |
| | | Copy number loss | 16p13.11 microdeletion syndrome | |
| | | Deletion | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | |
| | | Copy number gain | not provided | |
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