| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 73 (DFNB73, BSND) | severe to profound hearing loss | Autosomal Recessive | 1p32.3 | Missense | BSND | 97G>C | Val33Leu | Amino Acid Substitution | 0/Shafique et al., 2014 |
