| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment (USH1G) | hearing loss | Autosomal Recessive | 17q25.1 | Missense Mutation | USH1G | 1093G >A | Asp365Asn | Missense Mutation and PTC | 0/Schrauwen I et.al,...2018 |
