| | | Single nucleotide variant (3 prime UTR variant) | Brittle cornea syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Brittle cornea syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Brittle cornea syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Brittle cornea syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | PRDM5-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Deletion (frameshift variant +1 more) | Brittle cornea syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Brittle cornea syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | Cardiovascular phenotype +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Brittle cornea syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (intron variant) | Brittle cornea syndrome 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |