| | | Single nucleotide variant (3 prime UTR variant) | Aortic aneurysm, familial thoracic 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aortic aneurysm, familial thoracic 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aortic aneurysm, familial thoracic 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +1 more | |
| | | Deletion (3 prime UTR variant) | Aortic aneurysm, familial thoracic 7 +2 more | |
| | MYLK, MYLK-AS1 (T1716I +6 more) | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +1 more | |
| | MYLK, MYLK-AS1 (D1641N +6 more) | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +2 more | |
| | MYLK, MYLK-AS1 (R1816H +6 more) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | MYLK-AS1, MYLK (R1640C +6 more) | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +2 more | |
| | MYLK, MYLK-AS1 (V1792M +6 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Microsatellite (intron variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +1 more | |
| | LOC126806791, MYLK +1 more (N1522H +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more | |
| | LOC126806791, MYLK +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +4 more | |
| | LOC126806791, MYLK +1 more (D1613N +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more | |
| | LOC126806791, MYLK +1 more (N1603S +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | LOC126806791, MYLK +1 more (D1666G +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 +2 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (synonymous variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Deletion (inframe_deletion) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Deletion (inframe_deletion) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 7 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 7 +4 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital aneurysm of ascending aorta +3 more | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 7 +2 more | |