| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary sensory and autonomic neuropathies (HSANs) (KIF1A) | Neuropathy, hereditary sensory, type IIC | Autosomal Recessive | 2q37.3 | Deletion | KIF1A | c.2658del | p.(Ser887Profs*64) | Frameshift | Ghafoor et al., 2022/2022 |
