| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 5 +3 more | GConflicting classifications of pathogenicity |
| | ERCC6, LOC126860933 (R975Q) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cerebrooculofacioskeletal syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | COFS syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 5 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Age related macular degeneration 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |