| | | Deletion (frameshift variant) | Brittle cornea syndrome 1 | |
| | | Deletion (frameshift variant) | Brittle cornea syndrome 1 | |
| | | Deletion (frameshift variant) | Brittle cornea syndrome 1 | |
| | | Deletion (frameshift variant) | Brittle cornea syndrome 1 | |
| | | Duplication (frameshift variant) | Brittle cornea syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 | |
| | LOC130059719, ZNF469 (R3369P) | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 | |
| | | Duplication (frameshift variant) | Brittle cornea syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Brittle cornea syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 | |
| | | Deletion (frameshift variant) | Brittle cornea syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | |
| | | Duplication (inframe_insertion) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +2 more | |
| | | Single nucleotide variant (nonsense) | Brittle cornea syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (nonsense) | Brittle cornea syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | Brittle cornea syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Brittle cornea syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Brittle cornea syndrome 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Brittle cornea syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 | |
| | | Microsatellite (inframe_deletion) | Brittle cornea syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (nonsense) | Brittle cornea syndrome 1 | |
| | | Deletion (frameshift variant) | Brittle cornea syndrome 1 | |
| | | Deletion (frameshift variant) | Brittle cornea syndrome 1 | |
| | | Duplication (frameshift variant) | Brittle cornea syndrome 1 | |
| | | Deletion (frameshift variant) | Brittle cornea syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Brittle cornea syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +9 more | |
| | | Single nucleotide variant (synonymous variant) | Brittle cornea syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (synonymous variant) | Brittle cornea syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | ZNF469-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +4 more | GConflicting classifications of pathogenicity |