| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Shabbir Syndrome (LAMA3) | abnormal larynx, nails, and hyperpigmentation in patients’ eyes | Autosomal Recessive | Duplication | LAMA3 | c.151dup | p.Val51GlyfsTer4 | predicted to undergo NMD | Ullah et al., 2023/2023 |
