| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Azoospermia(ADGRG2) | male infertility | X-linked | Xp22.13 | Nonsense Mutation | ADGRG2 | 2440C>T | Arg814* | Truncated Protein | 0/Khan MJ et.al.,,,2018 |
