| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 68 (DFNB68, S1PR2) | Prelingual hearing impairment | Autosomal Recessive | 19p13.2 | Missense | S1PR2 | 323G>C | Arg108Pro | Amino Acid Substitution | 0/Santos-Cortez et al., 2016 |
| Hearing Impairment 68 (DFNB68, S1PR2) | Prelingual hearing impairment | Autosomal Recessive | 19p13.2 | Missense | S1PR2 | 419A>G | Tyr140Cys | Amino Acid Substitution | 0/Santos-Cortez et al., 2016 |
