| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LMNA, LOC126805877 (L25V +2 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 2, autosomal dominant +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +17 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal semi-dominant severe lipodystrophic laminopathy +24 more | GConflicting classifications of pathogenicity |
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