Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Splice site | TMC1 | 362+18A>G | Frame shift mutation | 0/Shafique et al., 2014 |