| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 6 (DFNB6, TMIE) | Profound hearing impairment | Autosomal Recessive | 3p21 | Missense | TMIE | 92A>G | Glu31Gly | Amino Acid Substitution | 0/Santos et al., 2006 |
| Hearing Impairment 6 (DFNB6, TMIE) | Profound hearing impairment | Autosomal Recessive | 3p21 | Missense | TMIE | 241C>T | Arg81Cys | Amino Acid Substitution | 0/Santos et al., 2006 |
| Hearing Impairment 6 (DFNB6, TMIE) | Profound hearing impairment | Autosomal Recessive | 3p21 | Missense | TMIE | 241C>T | Arg81Cys | Amino Acid Substitution | 0/Naz et al., 2002 |
| Hearing Impairment 6 (DFNB6, TMIE) | Profound hearing impairment | Autosomal Recessive | 3p21 | Missense | TMIE | 274C>T | Arg92Trp | Amino Acid Substitution | 0/Naz et al., 2002 |
