| | | Deletion (frameshift variant) | DE SANCTIS-CACCHIONE SYNDROME +2 more | |
| | | 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) | not provided +1 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 | |
| | | Deletion (frameshift variant) | DE SANCTIS-CACCHIONE SYNDROME +2 more | |
| | ERCC6, PGBD3 (V851A +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +8 more | |
| | | Microsatellite (frameshift variant) | DE SANCTIS-CACCHIONE SYNDROME +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | DE SANCTIS-CACCHIONE SYNDROME +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cerebrooculofacioskeletal syndrome 1 +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Cockayne syndrome type 2 +2 more | |
| | | Deletion (inframe_indel) | Cerebrooculofacioskeletal syndrome 1 +2 more | |
| | | Microsatellite (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Cockayne syndrome type 2 +2 more | |
| | ERCC6, ERCC6-PGBD3 +1 more | Insertion (inframe_insertion +1 more) | Cockayne syndrome type 2 +2 more | |
| | | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Insertion (inframe_insertion) | DE SANCTIS-CACCHIONE SYNDROME +2 more | |
| | | Indel (frameshift variant) | Cerebrooculofacioskeletal syndrome 1 +2 more | |
| | | Single nucleotide variant (nonsense) | Cerebrooculofacioskeletal syndrome 1 +2 more | |
| | | Duplication (frameshift variant) | DE SANCTIS-CACCHIONE SYNDROME +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | Cockayne syndrome type 2 +2 more | |
| | ERCC6, ERCC6-PGBD3 +1 more (E441del) | Deletion (inframe_deletion +1 more) | Cockayne syndrome type 2 +2 more | |
| | | Single nucleotide variant (splice donor variant) | Cockayne syndrome type 2 +2 more | |
| | | Microsatellite (inframe_deletion) | DE SANCTIS-CACCHIONE SYNDROME +3 more | |
| | ERCC6, ERCC6-PGBD3 +1 more (G440del) | Deletion (inframe_deletion +1 more) | Cockayne syndrome type 2 +2 more | |
| | | Microsatellite (inframe_deletion) | DE SANCTIS-CACCHIONE SYNDROME +3 more | |
| | | Single nucleotide variant (splice donor variant) | DE SANCTIS-CACCHIONE SYNDROME +3 more | |
| | | Single nucleotide variant (splice donor variant) | Cockayne syndrome type 2 +2 more | |
| | | Single nucleotide variant (splice donor variant) | DE SANCTIS-CACCHIONE SYNDROME +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | DE SANCTIS-CACCHIONE SYNDROME +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (nonsense) | DE SANCTIS-CACCHIONE SYNDROME +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | DE SANCTIS-CACCHIONE SYNDROME +3 more | |
| | | Single nucleotide variant (nonsense) | DE SANCTIS-CACCHIONE SYNDROME +3 more | GConflicting classifications of pathogenicity |
| | ERCC6, ERCC6-PGBD3 (L72fs) | Deletion (frameshift variant) | Cockayne syndrome type 2 +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Cerebrooculofacioskeletal syndrome 1 +2 more | |
| | | Single nucleotide variant (splice donor variant) | Cerebrooculofacioskeletal syndrome 1 +2 more | |
| | | Microsatellite (inframe_deletion) | Cerebrooculofacioskeletal syndrome 1 +2 more | |
| | | Duplication (inframe_insertion) | DE SANCTIS-CACCHIONE SYNDROME +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Microsatellite (inframe_insertion) | Cockayne syndrome type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cockayne syndrome type 2 +2 more | |
| | ERCC6, ERCC6-PGBD3 (A87fs) | Microsatellite (frameshift variant) | Cockayne syndrome type 2 +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | DE SANCTIS-CACCHIONE SYNDROME +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | not specified +7 more | |
| | | Duplication (frameshift variant) | DE SANCTIS-CACCHIONE SYNDROME +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | See cases +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | DE SANCTIS-CACCHIONE SYNDROME +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | DE SANCTIS-CACCHIONE SYNDROME +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Cerebrooculofacioskeletal syndrome 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | DE SANCTIS-CACCHIONE SYNDROME +4 more | |
| | | Single nucleotide variant (splice donor variant) | DE SANCTIS-CACCHIONE SYNDROME +3 more | |
| | | Single nucleotide variant (nonsense) | Cockayne syndrome type 2 +2 more | |
| | | Single nucleotide variant (splice donor variant) | DE SANCTIS-CACCHIONE SYNDROME +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | DE SANCTIS-CACCHIONE SYNDROME +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Cockayne syndrome type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Cerebrooculofacioskeletal syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Cerebrooculofacioskeletal syndrome 1 +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Cerebrooculofacioskeletal syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | ERCC6, LOC126860933 (R947*) | Single nucleotide variant (nonsense) | Cerebrooculofacioskeletal syndrome 1 +3 more | GPathogenic/Likely pathogenic |
| | ERCC6, ERCC6-PGBD3 +1 more | Microsatellite (inframe_deletion) | DE SANCTIS-CACCHIONE SYNDROME +3 more | |
| | | Single nucleotide variant (nonsense) | Cockayne syndrome type 2 +8 more | GPathogenic/Likely pathogenic |
| | ERCC6, ERCC6-PGBD3 (L199V) | Single nucleotide variant (missense variant) | Age related macular degeneration 5 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Age related macular degeneration 5 +4 more | GConflicting classifications of pathogenicity |
| | ERCC6, ERCC6-PGBD3 +1 more (F427S) | Single nucleotide variant (missense variant +1 more) | Age related macular degeneration 5 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 2 +7 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Cockayne syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | DE SANCTIS-CACCHIONE SYNDROME +4 more | |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 5 +3 more | |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 5 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Age related macular degeneration 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | DE SANCTIS-CACCHIONE SYNDROME +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | COFS syndrome +11 more | |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 5 +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Cockayne syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | DE SANCTIS-CACCHIONE SYNDROME +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | Deletion (frameshift variant) | DE SANCTIS-CACCHIONE SYNDROME +4 more | GPathogenic/Likely pathogenic |
| | | Insertion (frameshift variant) | Cerebrooculofacioskeletal syndrome 1 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | DE SANCTIS-CACCHIONE SYNDROME +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Cockayne syndrome type 2 +3 more | GPathogenic/Likely pathogenic |