| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Male Infertility (ACTL7A) | Spermatogenic failure 86 | Autosomal Recessive | 9q31.3 | Deletion | ACTL7A | c.149_150del | p.E50Afs*6 | Frameshift | Zhou et al, 2023/2023 |
