| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Brittle cornea syndrome 2 | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 2 | |
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