| | | Single nucleotide variant (synonymous variant +1 more) | Cockayne syndrome type 1 | |
| | | Indel | Cockayne syndrome type 1 | |
| | | Deletion | Cockayne syndrome type 1 | |
| | | Deletion (frameshift variant +1 more) | Cockayne syndrome type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Cockayne syndrome type 1 | |
| | | Duplication (frameshift variant +1 more) | Cockayne syndrome type 1 | |
| | | Microsatellite (frameshift variant +1 more) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Cockayne syndrome type 1 | |
| | | Deletion (inframe_indel +1 more) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | Abnormality of the nervous system +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Cockayne syndrome type 1 +1 more | GPathogenic/Likely pathogenic |
| | ERCC8, ERCC8-AS1 (Y100* +1 more) | Single nucleotide variant (nonsense +1 more) | Cockayne syndrome type 1 | |
| | ERCC8, ERCC8-AS1 (Q133* +2 more) | Single nucleotide variant (nonsense +1 more) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | ERCC8, ERCC8-AS1 (S101T +1 more) | Single nucleotide variant (missense variant +1 more) | Cockayne syndrome type 1 | |
| | ERCC8, ERCC8-AS1 (D70N +2 more) | Single nucleotide variant (missense variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (intron variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | UV-sensitive syndrome 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant) | Cockayne syndrome type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Cockayne syndrome type 1 +1 more | GPathogenic/Likely pathogenic |
| | ERCC8, ERCC8-AS1 (W49* +1 more) | Duplication (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Cockayne syndrome type 1 | |
| | ERCC8, ERCC8-AS1 (V105fs +1 more) | Deletion (frameshift variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Cockayne syndrome type 1 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Mitochondrial complex 1 deficiency, nuclear type 10 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Cockayne syndrome type 1 | |
| | | Deletion (frameshift variant) | Cockayne syndrome type 1 | |
| | | Deletion (frameshift variant) | Cockayne syndrome type 1 | |
| | | Microsatellite (inframe_deletion) | Cockayne syndrome type 1 | |
| | | Deletion (inframe_deletion) | Cockayne syndrome type 1 +1 more | |
| | | Deletion (frameshift variant) | Cockayne syndrome type 1 | |
| | ERCC8, ERCC8-AS1 (I6fs +2 more) | Deletion (frameshift variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant) | Cockayne syndrome type 1 | |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Cockayne syndrome type 1 | |
| | | Microsatellite (inframe_deletion +1 more) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Cockayne syndrome type 1 | |
| | | Duplication (frameshift variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cockayne syndrome type 1 | |
| | ERCC8, ERCC8-AS1 (R41fs +1 more) | Indel (frameshift variant +1 more) | not provided +1 more | |
| | | Duplication (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Mitochondrial complex 1 deficiency, nuclear type 10 +3 more | |
| | | Single nucleotide variant (intron variant) | Cockayne syndrome type 1 +1 more | GPathogenic/Likely pathogenic |
| | ERCC8, ERCC8-AS1 (Y100* +1 more) | Single nucleotide variant (nonsense +1 more) | UV-sensitive syndrome 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cockayne syndrome type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | ERCC8, ERCC8-AS1 (T104S +1 more) | Single nucleotide variant (missense variant +1 more) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cockayne syndrome type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 1 | |