| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| ERCC2 | 126340 | 278730 | 19q13.2-q13.3 | +T insertion (splice donor site of intron 15) | | TRICHOTHIODYSTROPHY | 1 |
| ERCC2 | 126340 | 278730 | 19q13.2-q13.3 | 18 bp deletion (1540-1557; c.1462-1479) | | TRICHOTHIODYSTROPHY | 1 |
| ERCC2 | 126340 | 278730 | 19q13.2-q13.3 | 45 bp deletion (c.2224-2268) | | XERODERMA PIGMENTOSUM, TYPE D | 1 |
| ERCC2 | 126340 | 278730 | 19q13.2-q13.3 | 78 bp deletion (106-183) | | XERODERMA PIGMENTOSUM, TYPE D | 2 |
| ERCC2 | 126340 | 278730 | 19q13.2-q13.3 | ARG112HIS | 0006 | TRICHOTHIODYSTROPHY | 1 |
| ERCC2 | 126340 | 278730 | 19q13.2-q13.3 | ARG616PRO | | TRICHOTHIODYSTROPHY | 1 |
| ERCC2 | 126340 | 278730 | 19q13.2-q13.3 | ARG658CYS | 0007 | TRICHOTHIODYSTROPHY | 1 |
| ERCC2 | 126340 | 278730 | 19q13.2-q13.3 | ARG683TRP | 0015 | XERODERMA PIGMENTOSUM, TYPE D | 8 |
| ERCC2 | 126340 | 278730 | 19q13.2-q13.3 | ARG722TRP | | TRICHOTHIODYSTROPHY | 1 |
| ERCC2 | 126340 | 278730 | 19q13.2-q13.3 | ASP681ASN | 0009 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | 1 |
| ERCC2 | 126340 | 278730 | 19q13.2-q13.3 | c.595-10G>A, p.I199Pfs*52 | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | 2 |
| ERCC2 | 126340 | 278730 | 19q13.2-q13.3 | GLN452TER | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | 1 |
| ERCC2 | 126340 | 278730 | 19q13.2-q13.3 | GLY47ARG | | XERODERMA PIGMENTOSUM, TYPE D | 1 |
| ERCC2 | 126340 | 278730 | 19q13.2-q13.3 | GLY602ASP | | XERODERMA PIGMENTOSUM, TYPE D | 2 |
| ERCC2 | 126340 | 278730 | 19q13.2-q13.3 | GLY713ARG | 0008 | TRICHOTHIODYSTROPHY | 1 |
| ERCC2 | 126340 | 278730 | 19q13.2-q13.3 | LEU461VAL | 0001 | XERODERMA PIGMENTOSUM, TYPE D | 1 |