| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Obesity (LEP) | Obese | Autosomal Recessive | 7q32.1 | Missense | LEP | Asn103Lys | Amino Acid Substitution | 0/Shabana et al., 2016 | |
| Obesity (LEP) | obese | Autosomal Recessive | 7q32.1 | Deletion | LEP | 133Gdel | Frame shift mutation | 0/Gibson et al., 2004 |