| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 2, autosomal dominant +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +20 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 2 +9 more | GConflicting classifications of pathogenicity |
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