| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Amyloidosis cutis dyschromica, ACD (GPNMB) | Cutaneous amyloidosis | Autosomal Recessive | 7p15.3 | Substitution | GPNMB | c.1088G>T | p.Gly363Val | Missense | Rahman et al., 2021/2021 |
| Amyloidosis cutis dyschromica, ACD (GPNMB) | Cutaneous amyloidosis | Autosomal Recessive | 7p15.3 | Substitution | GPNMB | c.522 C>G | pIle174Met | Missense | Rahman et al., 2021/2021 |
