| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +2 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | |
| | COL3A1, LOC126806446 (A784V) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 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) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 +2 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Deletion (inframe_deletion) | Ehlers-Danlos syndrome, type 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Deletion (frameshift variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (synonymous variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +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) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 +3 more | |
| | | Single nucleotide variant (nonsense) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, type 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +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 provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +6 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |