| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital generalized lipodystrophy, Type 2 | loss of adipose tissues etc | Autosomal Recessive | 11q12.3 | Deletion | BSCL2 | 636delC | Tyr213Thrfs*20 | Frame shift mutation & PTC | 0/Rahman et al., 2013 |
| Congenital generalized lipodystrophy, Type 2 | loss of adipose tissues etc | Autosomal Recessive | 11q12.3 | Splice site | BSCL2 | 574-2A>G | Tyr256fs*48 | Frame shift mutation & PTC | 0/Schuster et al., 2014 |
