| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806791, MYLK
+1 more (D1613N +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aortic aneurysm, familial thoracic 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Aortic aneurysm, familial thoracic 7 | GConflicting classifications of pathogenicity |
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