| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Laryngo-onycho-cutaneous Syndrome (LAMA3) | Skin blistering etc | Autosomal Recessive | 18q11.2 | Insertion | LAMA3 | 118insG | Frame shift mutation | McLean et al., 2003/2003 | |
| Laryngo-onycho-cutaneous Syndrome (LAMA3) | Skin blistering etc | 18q11.2 | Insertion | LAMA3 | 151insG | McLean et al., 2003/2003 | |||
| Laryngo-onycho-cutaneous Syndrome (LAMA3) | Skin blistering etc | 18q11.2 | Nonsense | LAMA3 | 2827C>T | Arg943* | Premature Termination | McLean et al., 2003/2003 |
