| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 74 (DFNB74, MSRB3) | Prelingual hearing impairment | Autosomal Recessive | 12q14.2-q15. | MSRB3 | 0/Waryah et al., 2009 | ||||
| Hearing Impairment 74 (DFNB74, MSRB3) | Prelingual hearing impairment | Autosomal Recessive | 12q14.2-q15. | Missense | MSRB3 | 265T>G | Cys89Gly | Amino Acid Substitution | 0/Ahmed et al., 2011 |
| Hearing Impairment 74 (DFNB74, MSRB3) | Profound hearing impairment | Autosomal Recessive | 12q14.2-q15. | Nonsense | MSRB3 | 55C>T | Arg19* | Premature Termination | 0/Ahmed et al., 2011 |
| Hearing Impaiment (MSRB3) | Hearing loss | Autosomal Recessive | 12q14.3 | MSRB3 | c.412–1G>A | Splice error | Splice error | Richard et al., 2019/2019 |
