| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Cockayne syndrome type 2 +4 more | |
| | | Deletion (frameshift variant) | ERCC6-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cerebrooculofacioskeletal syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cerebrooculofacioskeletal syndrome 1 | |
| | | Single nucleotide variant (nonsense) | not provided +8 more | |
| | | Single nucleotide variant (nonsense) | Cerebrooculofacioskeletal syndrome 1 +8 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | ERCC6, PGBD3 (G746D +1 more) | Single nucleotide variant (missense variant +1 more) | Premature ovarian failure 11 | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +7 more | |
| | | Insertion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Cockayne syndrome type 2 | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Cockayne syndrome type 2 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
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