| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | 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, 1 +2 more | |
| | | Single nucleotide variant (missense 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) | Fibromuscular dysplasia, multifocal +8 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome type 7A +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | COL5A1-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | COL5A1-related condition +7 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | COL5A1, LOC101448202 (R1503H) | Single nucleotide variant (non-coding transcript variant +1 more) | Ehlers-Danlos syndrome, classic type, 1 | |
| | COL5A1, LOC101448202 (D1648G) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | GConflicting classifications of pathogenicity |
| | COL1A1, LOC126862586 (E288K) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |