| | | Single nucleotide variant (synonymous variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 5 +8 more | |
| | | Single nucleotide variant (missense variant) | Cerebrooculofacioskeletal syndrome 1 +7 more | |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 2 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cerebrooculofacioskeletal syndrome 1 +7 more | |
| | | Single nucleotide variant (intron variant) | DE SANCTIS-CACCHIONE SYNDROME +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +7 more | |
| | | Duplication (frameshift variant) | UV-sensitive syndrome 1 +7 more | |
| | | Single nucleotide variant (nonsense +1 more) | Cerebrooculofacioskeletal syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Premature ovarian failure 11 +6 more | |
| | ERCC6, PGBD3 (V851A +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (intron variant +1 more) | not specified +7 more | |
| | | Single nucleotide variant (splice acceptor variant) | Cerebrooculofacioskeletal syndrome 1 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Cerebrooculofacioskeletal syndrome 1 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 2 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 5 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | COFS syndrome +11 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | UV-sensitive syndrome 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 2 +8 more | |
| | | Single nucleotide variant (missense variant) | COFS syndrome +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | UV-sensitive syndrome 1 +7 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | COFS syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | ERCC6-related condition +9 more | |
| | | Single nucleotide variant (synonymous variant) | Cockayne syndrome +8 more | |
| | | Single nucleotide variant (synonymous variant) | Cockayne syndrome +8 more | |
| | | Single nucleotide variant (synonymous variant) | COFS syndrome +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | COFS syndrome +8 more | |
| | | Single nucleotide variant (nonsense) | Premature ovarian failure 11 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Cockayne syndrome +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Premature ovarian failure 11 +7 more | |
| | | Single nucleotide variant (nonsense) | Cerebrooculofacioskeletal syndrome 1 +8 more | |