| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Xeroderma pigmentosum, group C (XPC) | Xeroderma pigmentosum, group C | Autosomal Recessive | 3p25.1 | Deletion | XPC | c.1934del | p.(Pro645Leufs*5) | Frameshift | Nawal et al, 2021/2021 |
| Xeroderma pigmentosum, group C (XPC) | Xeroderma pigmentosum, group C | Autosomal Recessive | 3p25.1 | Substitution | XPC | c.1243 C>T | p.Arg415* | Nonsense | Nawal et al, 2021/2021 |
| Xeroderma pigmentosum, group C (XPC) | Xeroderma pigmentosum, group C | Autosomal Recessive | 3p25.1 | Substitution | XPC | c.2251-1 G>C | Splice site | Nawal et al, 2021/2021 |
