| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Male infertility with oligoasthenoteratozoospermia (CCDC34) | Spermatogenic failure 76 | Autosomal Recessive | 11p14.1 | Substitution | CCDC34 | c.848C>A | p.A283E | Missense | Ahmad et al., 2024/2024 |