| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion) | Cardiospondylocarpofacial syndrome | |
| | | Single nucleotide variant (nonsense) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |
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