| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| ERCC5 | 133530 | 133530 | 13q33 | 1-BP DEL, FS660TER | 0004 | XERODERMA PIGMENTOSUM, GROUP G COMBINED WITH COCKAYNE SYNDROME | 2 |
| ERCC5 | 133530 | 133530 | 13q33 | 1116delTC | | XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME | 1 |
| ERCC5 | 133530 | 133530 | 13q33 | 2801delTG | | XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME | 1 |
| ERCC5 | 133530 | 133530 | 13q33 | ALA874THR | | XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME | 2 |
| ERCC5 | 133530 | 133530 | 13q33 | ARG263TER | 0005 | XERODERMA PIGMENTOSUM, GROUP G COMBINED WITH COCKAYNE SYNDROME | 1 |
| ERCC5 | 133530 | 278780 | 13q33 | c.1115_1118delGGAA (p.Arg372Thrfs*5) | 0009 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG | 1 |
| ERCC5 | 133530 | 278780 | 13q33 | c.1494delA (p.Asp499Ilefs) | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG | 1 |
| ERCC5 | 133530 | 278780 | 13q33 | c.2573T>C (p.Leu858Pro) | 0008 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G | 1 |
| ERCC5 | 133530 | 278780 | 13q33 | c.2751delA (p.Lys917Asnfs) | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG | 1 |
| ERCC5 | 133530 | 133530 | 13q33 | GLN136TER | | XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME | 2 |
| ERCC5 | 133530 | 133530 | 13q33 | GLN16TER | | XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME | 1 |