| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (nonsense) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Severe combined immunodeficiency due to DCLRE1C deficiency | |
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