| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Warburg Micro Syndrome 1 (WARBM1, RAB3GAP) | Brain, eye, & endocrine abnormalities | Autosomal Recessive | 2q21.3 | Nonsense | RAB3GAP | 1339C>T | Gln447* | Premature Termination | Aligianis et al., 2005/2005 |
| Warburg Micro Syndrome 1 (WARBM1, RAB3GAP) | Brain, eye, & endocrine abnormalities etc | Autosomal Recessive | 2q21.3 | Deletion | RAB3GAP | 2801delC | Pro934fs*1020 | Frame shift mutation & PTC | Aligianis et al., 2005/2005 |
| Warburg Micro Syndrome 1 (WARBM1, RAB3GAP) | Brain, eye, & endocrine abnormalities etc | Autosomal Recessive | 2q21.3 | Splice site | RAB3GAP | IVS7?2A>G | Frame shift mutation | Aligianis et al., 2005/2005 | |
| Warburg Micro Syndrome 1 (WARBM1, RAB3GAP) | Brain, eye, & endocrine abnormalities etc | Autosomal Recessive | 2q21.3 | Deletion | RAB3GAP | 1003delT | Cys335fs*367 | Frame shift mutation & PTC | Aligianis et al., 2005/2005 |
| Warburg Micro Syndrome 1 (WARBM1, RAB3GAP1) | Ocular, neurological, and endocrine problems etc | Autosomal Recessive | 2q21.3 | Substitution | RAB3GAP1 | c.2891A>G | p.Gln964Arg | Missense | Ullah et al., 2023/2023 |
