| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal dominant cerebellar ataxia, deafness and narcolepsy | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar ataxia +6 more | |
| | | Single nucleotide variant (missense variant) | Dyssynergia +1 more | |
Click to view in NCBI Gene