| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Centronuclear myopathy-6 with fiber-type disproportion (MAP3K20) | Centronuclear myopathy 6 with fiber-type disproportion | Autosomal Recessive | 2q31.1 | Deletion | MAP3K20 | c.456delT | p.Phe152Leufs*49 | Frameshift and Premature stop codon | Ahmad et al., 2023/2023 |
