| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O +6 more | |
| | DYNC1H1, LOC126862060 (E3048K) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O +1 more | GConflicting classifications of pathogenicity |
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