| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome 2, dominant +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome | |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome | |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome | |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | Geleophysic dysplasia +9 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | MASS syndrome +14 more | |
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