| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hydatidiform Mole Recurrent 2 (KHDC3L) | Repeated pregnancy loss etc | Autosomal Recessive | 6q13 | Nonsense | KHDC3L | 3G>T | Met1* | Premature Termination | 0/Parry et al., 2011 |
