| | | Single nucleotide variant (missense variant +1 more) | Desmin-related myofibrillar myopathy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Duplication | Dilated cardiomyopathy 1I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dilated cardiomyopathy 1I | |
| | | Single nucleotide variant (missense variant +1 more) | Desmin-related myofibrillar myopathy +3 more | |
| | | Single nucleotide variant (missense variant) | Neurogenic scapuloperoneal syndrome, Kaeser type +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Desmin-related myofibrillar myopathy | |
| | | Indel (missense variant +1 more) | Desmin-related myofibrillar myopathy +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1I +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Desmin-related myofibrillar myopathy +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion +1 more) | Desmin-related myofibrillar myopathy +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Desmin-related myofibrillar myopathy +4 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1I +3 more | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1I +2 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neurogenic scapuloperoneal syndrome, Kaeser type +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neurogenic scapuloperoneal syndrome, Kaeser type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Neurogenic scapuloperoneal syndrome, Kaeser type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Dilated cardiomyopathy 1I +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Dilated cardiomyopathy 1I +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neurogenic scapuloperoneal syndrome, Kaeser type +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neurogenic scapuloperoneal syndrome, Kaeser type +2 more | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1I +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Neurogenic scapuloperoneal syndrome, Kaeser type +2 more | |
| | | Single nucleotide variant (missense variant) | Neurogenic scapuloperoneal syndrome, Kaeser type +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Neurogenic scapuloperoneal syndrome, Kaeser type +2 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +2 more | |
| | | Single nucleotide variant (nonsense) | Dilated cardiomyopathy 1I +3 more | |
| | | Single nucleotide variant (synonymous variant) | Desmin-related myofibrillar myopathy +3 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +4 more | |
| | | Deletion (frameshift variant) | Neurogenic scapuloperoneal syndrome, Kaeser type +2 more | |
| | | Single nucleotide variant (splice donor variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +6 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +3 more | |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +4 more | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1I +3 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +5 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +4 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +4 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +3 more | |
| | | Single nucleotide variant (missense variant) | Neurogenic scapuloperoneal syndrome, Kaeser type +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myofibrillar Myopathy, Dominant +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Desmin-related myofibrillar myopathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Myofibrillar Myopathy, Dominant +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Desmin-related myofibrillar myopathy +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myofibrillar Myopathy, Dominant +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myofibrillar Myopathy, Dominant +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Desmin-related myofibrillar myopathy +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Myofibrillar Myopathy, Dominant +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +5 more | |
| | | Single nucleotide variant (synonymous variant) | DES-related condition +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1I +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +4 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Myofibrillar Myopathy, Dominant +4 more | |
| | | Single nucleotide variant (intron variant) | Desmin-related myofibrillar myopathy +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1I +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Deletion | DES-related condition +10 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +7 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +4 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Myofibrillar Myopathy, Dominant +5 more | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar Myopathy, Dominant +6 more | |
| | | Single nucleotide variant (missense variant) | Respiratory insufficiency due to muscle weakness +20 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar Myopathy, Dominant +7 more | GConflicting classifications of pathogenicity |