| | COL5A1, LOC101448202 (C1680R) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | COL1A1, LOC126862586 (E288K) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, classic type | |
| | | Duplication | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type | |
| | | Duplication (frameshift variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type +1 more | |
| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome, classic type +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type | |
| | | Duplication | Ehlers-Danlos syndrome, classic type +1 more | |
| | | Deletion | Ehlers-Danlos syndrome, classic type +1 more | |
| | | Deletion | Ehlers-Danlos syndrome, classic type | |
| | | Deletion | Ehlers-Danlos syndrome, classic type +1 more | |
| | | Duplication | Osteogenesis imperfecta type I +1 more | |
| | | Deletion | Ehlers-Danlos syndrome, classic type +1 more | |
| | | Deletion | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | COL5A1, LOC101448202 (Q1796*) | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, classic type, 1 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, classic type, 1 | |
| | | Deletion | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type +1 more | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, classic type | |
| | | Deletion (inframe_deletion) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (synonymous variant) | COL5A1-related condition +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, classic type +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Ehlers-Danlos syndrome, classic type, 1 +2 more | |
| | | Deletion | Ehlers-Danlos syndrome, classic type | |
| | COL5A1, LOC101448202 (A1580V) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type | |
| | | Indel (inframe_indel) | Ehlers-Danlos syndrome, classic type +1 more | |
| | COL5A1, COL5A1-AS1 +1 more | Deletion | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Duplication | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, classic type, 1 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type | |
| | LOC101448202, COL5A1 (E1719*) | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, classic type | |
| | | Duplication | Osteogenesis imperfecta type I +2 more | |
| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fibromuscular dysplasia, multifocal +2 more | |
| | | Copy number loss | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome, classic type | |
| | | Duplication | Ehlers-Danlos syndrome, classic type +2 more | |
| | | Deletion | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Deletion | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Deletion | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Deletion (splice acceptor variant) | Ehlers-Danlos syndrome, classic type | |
| | | Deletion (splice acceptor variant +1 more) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Deletion | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Deletion | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Deletion | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Deletion | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type +3 more | GConflicting classifications of pathogenicity |
| | | Deletion | Osteogenesis imperfecta type I +2 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 2 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | GConflicting classifications of pathogenicity |