| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, classic type, 1 +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, 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +2 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | |
| | COL5A1, LOC101448202 (E1599K) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, classic type, 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (missense variant) | 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 |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fibromuscular dysplasia, multifocal +2 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fibromuscular dysplasia, multifocal +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (synonymous variant) | Fibromuscular dysplasia, multifocal +5 more | |
| | | Deletion (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Fibromuscular dysplasia, multifocal +4 more | |
| | | Single nucleotide variant (synonymous variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Ehlers-Danlos syndrome, classic type +4 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, classic type, 1 +5 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (synonymous variant) | Fibromuscular dysplasia, multifocal +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | |
| | COL5A1, LOC101448202 (P1780H) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, classic type, 1 +4 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +2 more | |
| | | Single nucleotide variant (synonymous variant) | COL5A1-related condition +5 more | |
| | | Single nucleotide variant (intron variant) | Connective tissue disorder +3 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, classic type, 1 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, classic type, 1 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, classic type, 1 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, classic type, 1 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | COL5A1, LOC101448202 (E1599Q) | Single nucleotide variant (missense variant) | Fibromuscular dysplasia, multifocal +5 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Fibromuscular dysplasia, multifocal +4 more | |
| | | Single nucleotide variant (intron variant) | COL5A1-related condition +3 more | |
| | | Single nucleotide variant (synonymous variant) | Fibromuscular dysplasia, multifocal +4 more | |
| | | Duplication (intron variant) | COL5A1-related condition +3 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, classic type, 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (synonymous variant) | Fibromuscular dysplasia, multifocal +4 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +2 more | |
| | | 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 (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +2 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, classic type, 1 +5 more | |
| | | Single nucleotide variant (intron variant) | Fibromuscular dysplasia, multifocal +3 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |