| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy +20 more | |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +12 more | |
| | | Single nucleotide variant (synonymous variant) | Primary dilated cardiomyopathy +17 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiomyopathy +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +17 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +16 more | |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +14 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2B1 +15 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +15 more | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 2, autosomal dominant +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +14 more | |
| | | Single nucleotide variant (synonymous variant) | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +16 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +17 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Lethal tight skin contracture syndrome +16 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +6 more | |