| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Obesity (LEPR) | obese | Autosomal Recessive | 1p31.3 | Gross Deletion | LEPR | 1.3 & 58.8 kb del | Frame shift mutation | 0/Saeed et al., 2015 | |
| Obesity (LEPR) | obese | Autosomal Recessive | 1p31.3 | Missense | LEPR | 1810T>A | Cys604Ser | Amino Acid Substitution | 0/Saeed et al., 2015 |
| Obesity (LEPR) | obese | Autosomal Recessive | 1p31.3 | Splice site | LEPR | 2396-1G>T | Frame shift mutation | 0/Saeed et al., 2015 |
