| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Obesity (MC4R) | obese | Autosomal Recessive | 18q21.32 | Missense | MC4R | 947T>C | Ile316Ser | Amino Acid Substitution | 0/Saeed et al., 2015 |
| Obesity (MC4R) | obese | Autosomal Recessive | 18q21.32 | Missense | MC4R | 482T>C | Met161Thr | Amino Acid Substitution | 0/Saeed et al., 2015 |
