| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Geroderma Osteodysplastica (1q24, GORAB) | Wrinkly skin and severe osteoporosis | Autosomal Recessive | 1q24 | GORAB (SCYL1BP1) | -1_1GA>CT | Met1? | 0/Hennies et al., 2008 |
