| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 35 (DFNB35, ESRRB) | severe to profound hearing loss | Autosomal Recessive | 14q24.3?q34.12 | Missense | ESRRB | 1024G>T | Val342Leu | Amino Acid Substitution | 0/Collin et al., 2008 |
| Hearing Impairment 35 (DFNB35, ESRRB) | severe to profound hearing loss | Autosomal Recessive | 14q24.3?q34.12 | Missense | ESRRB | 329C>T | Ala110Val | Amino Acid Substitution | 0/Collin et al., 2008 |
| Hearing Impairment 35 (DFNB35, ESRRB) | severe to profound hearing loss | Autosomal Recessive | 14q24.3?q34.12 | Missense | ESRRB | 959T>C | Leu320Pro | Amino Acid Substitution | 0/Collin et al., 2008 |
| Hearing Impairment 35 (DFNB35, ESRRB) | severe to profound hearing loss | Autosomal Recessive | 14q24.3?q34.12 | Missense | ESRRB | 1040C>T | Leu347Pro | Amino Acid Substitution | 0/Collin et al., 2008 |
| Hearing Impairment 35 (DFNB35, ESRRB) | severe to profound hearing loss | Autosomal Recessive | 14q24.3?q34.12 | Deletion | ESRRB | 1018_1020delGAG | Glu340del | 0/Lee et al., 2011 | |
| Hearing Impaiment (ESRRB) | Hearing loss | Autosomal Recessive | 14q24.3 | Substitution | ESRRB | c.536G>A | p.(Arg179His) | Missense | Richard et al., 2019/2019 |
