| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | MYLK, MYLK-AS1 (A1826V +6 more) | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | GConflicting classifications of pathogenicity |
| | LOC126806791, MYLK +1 more | Single nucleotide variant (intron variant) | Connective tissue disorder +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene