| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1703 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935726, LOC129935727 +1665 more | Copy number gain | See cases | |
| | LOC129935713, LOC129935714 +1299 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120629, LOC110120691 +986 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Desmin-related myofibrillar myopathy +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Desmin-related myofibrillar myopathy +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Myofibrillar Myopathy, Dominant +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Duplication (5 prime UTR variant) | not provided +1 more | |
| | | Insertion (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Cardiomyopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Desmin-related myofibrillar myopathy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | DES-related disorder | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (synonymous variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (synonymous variant) | Desmin-related myofibrillar myopathy +2 more | |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar Myopathy, Dominant +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (synonymous variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Desmin-related myofibrillar myopathy | |
| | | Deletion (splice donor variant) | Megacolon | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurogenic scapuloperoneal syndrome, Kaeser type +2 more | |
| | | Single nucleotide variant (synonymous variant) | DES-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +1 more | |
| | | Insertion (inframe_insertion) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Inversion (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (synonymous variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (no sequence alteration) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar Myopathy, Dominant +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Deletion (inframe_indel) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (synonymous variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (synonymous variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurogenic scapuloperoneal syndrome, Kaeser type +4 more | |
| | | Single nucleotide variant (no sequence alteration) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar Myopathy, Dominant +7 more | |
| | | Single nucleotide variant (missense variant) | not provided | |