| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 49 (DFNB49, TRIC, MARVELD2) | Profound hearing impairment | Autosomal Recessive | 5q12.3-q14.1 | Splice site | TRIC, MARVELD2 | IVS4+1G>A | Frame shift mutation | 0/Chishti et al., 2008 |
