| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LMNA, LOC126805877 (E161K +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2B1 +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 2, autosomal dominant +4 more | |
Click to view in NCBI Gene