| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| ALMS | dyspnea, body edema,cardiomyopathy etc | Autosomal Recessive | 2p13.1 | Gross Deletion | ALMS1 | 9911_11550del | Asn3306Lysfs*7 | Frame shift mutation & PTC | Nikopoulos et al., 2015/2015 |
