| | | Single nucleotide variant (synonymous variant +1 more) | ERCC6-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | PGBD3-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | ERCC6-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | ERCC6-related condition | |
| | ERCC6, PGBD3 (T129I +1 more) | Single nucleotide variant (missense variant +1 more) | ERCC6-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | PGBD3-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | PGBD3-related condition | |
| | | Single nucleotide variant (synonymous variant) | ERCC6-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ERCC6, LOC126860933 (P938fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Indel (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ERCC6, PGBD3 (D39V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ERCC6, PGBD3 (T320A +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ERCC6, LOC126860933 (Y932N) | Single nucleotide variant (missense variant) | not provided | |
| | ERCC6, PGBD3 (L616I +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ERCC6, PGBD3 (L493fs +1 more) | Indel (frameshift variant +1 more) | not specified | |
| | ERCC6, ERCC6-PGBD3 (I240V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ERCC6, ERCC6-PGBD3 +1 more (D401N) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ERCC6, PGBD3 (Y325C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | ERCC6, ERCC6-PGBD3 +1 more (Q334R +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ERCC6, ERCC6-PGBD3 (I117V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ERCC6, LOC126860933 (H974R) | Single nucleotide variant (missense variant) | not provided | |
| | ERCC6, LOC126860933 (R961W) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | DE SANCTIS-CACCHIONE SYNDROME +2 more | |
| | ERCC6, PGBD3 (V1056I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ERCC6-PGBD3, ERCC6 (G270D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ERCC6-PGBD3, PGBD3 +1 more (R518C +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PGBD3, ERCC6 +1 more (V375M +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PGBD3, ERCC6 +1 more (R755W +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ERCC6, ERCC6-PGBD3 (N168T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ERCC6-PGBD3, PGBD3 +1 more (Q446R +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ERCC6-PGBD3, ERCC6 +1 more (L705W +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ERCC6-PGBD3, ERCC6 (D103E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PGBD3, ERCC6 +1 more (E31K +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PGBD3, ERCC6-PGBD3 +1 more (E45Q +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PGBD3, ERCC6 +1 more (F604L +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | ERCC6, LOC126860933 (A944T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ERCC6-PGBD3, ERCC6 (L137V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ERCC6-PGBD3, ERCC6 +1 more (D400H +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ERCC6, ERCC6-PGBD3 +1 more (T561M +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PGBD3, ERCC6 (R542H +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ERCC6, LOC126860933 (N922K) | Single nucleotide variant (missense variant) | not provided | |
| | ERCC6, LOC126860933 (T905I) | Single nucleotide variant (missense variant) | not provided | |
| | ERCC6, ERCC6-PGBD3 (Q112R) | Single nucleotide variant (missense variant) | not provided | |
| | ERCC6-PGBD3, ERCC6 (R134Q) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | PGBD3, ERCC6 (G929R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | ERCC6, ERCC6-PGBD3 (Q251R) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | ERCC6, LOC126860933 (T940R) | Single nucleotide variant (missense variant) | not provided | |
| | ERCC6, ERCC6-PGBD3 (A295T) | Single nucleotide variant (missense variant) | not provided | |
| | PGBD3, ERCC6 +1 more (R453Q) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ERCC6-PGBD3, ERCC6 (M245V) | Single nucleotide variant (missense variant) | not provided | |
| | ERCC6, LOC126860933 (G918S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |