| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Knobloch syndrome type 1 (COL18A1) | Knobloch syndrome, type 1 | Autosomal Recessive | 21q22.3 | Deletion | COL18A1 | c.3559_3577del | p.(Ser1187AlafsTer18) | Frameshift and Premature Terminition | Zafar et al., 2025/2025 |
