| Disorder | Mutation | Result |
| Acral Mutilation Syndrome (AMS) | | CLEAR |
| Degenerative Myelopathy (DM) | (c.100G>A) | CLEAR |
| Exercise-Induced Collapse (EIC) | (c.767G>T) | CLEAR |
| Familial Nephropathy (FN(C)) | (c.115A>T) | CLEAR |
| Gangliosidosis GM2 | (c.283delG) | CLEAR |
| Glycogen Storage Disease VII (Phosphofructokinase deficiency) | (c.2228G>A) | CLEAR |
| Neonatal encephalopathy with seizures (NEWS) | (c.152T>G) | CLEAR |
| Osteochondrodysplasia (OCD) | | CLEAR |
| Progressive Retinal Atrophy (PRA-PRCD) (PRA-PRCD) | (c.5G>A) | CLEAR |
| Von Willebrand Disease I (VWD1) | (c.7437G>A) | CLEAR |