| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129935240, COL3A1
+11 more | Deletion | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant +1 more) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Ehlers-Danlos syndrome, type 4 | |
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