| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129937413, LOC129937414
+291 more | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Aortic aneurysm, familial thoracic 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | LOC126806792, MYLK (G54fs) | Duplication (5 prime UTR variant +1 more) | not provided | |
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