| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant cerebellar ataxia +5 more | GConflicting classifications of pathogenicity |
| | DYNC1H1, LOC126862060 (V3128F) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 13 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 13 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
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