| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| COH1 | Ocular, neural and muscular deficits | Autosomal Recessive | 8q22 | Deletion | VPS13B | 6879delT | Phe2293Leufs*24 | Frame shift mutation & PTC | Rafiq et al., 2015/2015 |
| COH1 | Ocular, neural and muscular deficits | Autosomal Recessive | 8q22 | Gross Deletion | VPS13B | chr8:100728884_100779911del | Gly2177Alafs*16 | Frame shift mutation & PTC | Rafiq et al., 2015/2015 |
