| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Charcot-Marie-Tooth disease +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant cerebellar ataxia, deafness and narcolepsy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +1 more | |
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