| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 2, autosomal dominant +14 more | |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lethal tight skin contracture syndrome +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 2, autosomal dominant +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +15 more | |
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