| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Autosomal dominant cerebellar ataxia, deafness and narcolepsy +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant cerebellar ataxia, deafness and narcolepsy +2 more | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome +3 more | |
| | | Deletion (intron variant) | Autosomal dominant cerebellar ataxia, deafness and narcolepsy +3 more | |
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