| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Berardinelli-Seip Congenital Lipodystrophy | Muscular hypertrophy,MR,skeletal abnormalities | Autosomal Recessive | 11q12.3 | Splice site | BSCL2 | 574-2A>G | Lys256fs*48 | Frame shift mutation & PTC | Schuster et al., 2014/2014 |
