| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Obesity (LEPR) | obese | Autosomal Recessive | 1p31.3 | Splice site | LEPR | 2396-1 G>T | 799-1G>T | Frame shift mutation & PTC | 0/Saeed et al., 2014 |
| Obesity (LEPR) | obese | Autosomal Recessive | 1p31.3 | Nonsense | LEPR | 1675G>A | Trp558* | Premature Termination | 0/Saeed et al., 2014 |
