| | | Duplication (frameshift variant) | Cryptorchidism +17 more | |
| | | Single nucleotide variant (missense variant +1 more) | Abnormal cardiovascular system morphology +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progeroid and marfanoid aspect-lipodystrophy syndrome +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Disproportionate tall stature | |
| | | 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 | |
| | | Deletion (3 prime UTR variant) | Disproportionate tall stature | |
| | | Single nucleotide variant (missense variant) | Disproportionate tall stature +2 more | |
| | | Single nucleotide variant (missense variant) | Disproportionate tall stature | |
| | | Single nucleotide variant (missense variant) | Disproportionate tall stature | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 | |
| | | Single nucleotide variant (nonsense) | Sotos syndrome +19 more | |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |