| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 2, autosomal dominant +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial partial lipodystrophy, Dunnigan type +15 more | GConflicting classifications of pathogenicity |
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