| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BIVM, BIVM-ERCC5 (G270A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebrooculofacioskeletal syndrome 3 +3 more | |
| | BIVM-ERCC5, ERCC5 (R71C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | BIVM-ERCC5, ERCC5 (T105M +1 more) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | BIVM-ERCC5, ERCC5 (P132S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | BIVM-ERCC5, ERCC5 (H181R +1 more) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | BIVM-ERCC5, ERCC5 (Q184E +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BIVM-ERCC5, ERCC5 (P198A +1 more) | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | BIVM-ERCC5, ERCC5 (K293I +1 more) | Single nucleotide variant (missense variant) | Ovarian cancer +1 more | GConflicting classifications of pathogenicity |
| | BIVM-ERCC5, ERCC5 (S765C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | BIVM-ERCC5, ERCC5 (T411M +1 more) | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | BIVM-ERCC5, ERCC5 (D436V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BIVM-ERCC5, ERCC5 (S453fs +1 more) | Microsatellite (frameshift variant) | Inborn genetic diseases | |
| | BIVM-ERCC5, ERCC5 (R954W +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | BIVM-ERCC5, ERCC5 (H539Y +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | BIVM-ERCC5, ERCC5 (D1011N +1 more) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | BIVM-ERCC5, ERCC5 +1 more (M1242V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ERCC5, BIVM-ERCC5 (A874T +1 more) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | BIVM-ERCC5, ERCC5 (V940M +1 more) | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | BIVM-ERCC5, ERCC5 (A1036T +1 more) | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | BIVM-ERCC5, ERCC5 (E1520K +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BIVM-ERCC5, ERCC5 (A1105G +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BIVM-ERCC5, ERCC5 (R1174K +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |