| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Stickler syndrome type-IV (COL9A1) | Stickler syndrome type-IV | Autosomal Recessive | 6q13 | Insertion | COL9A1 | c.851_852insCAAT | p.(Pro285AsnfsTer20) | Premature Terminition | Zafar et al., 2025/2025 |
