| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935480, LOC129935481 +1299 more | Copy number gain | See cases | |
| | LOC129935841, LOC129935842 +1148 more | Copy number gain | See cases | |
| | LOC129935871, LOC129935872 +986 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935653, DES +14 more | 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) | Myofibrillar Myopathy, Dominant +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) | Desmin-related myofibrillar myopathy +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) | Myofibrillar Myopathy, Dominant +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Cardiomyopathy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | 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) | 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 (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) | Dilated cardiomyopathy 1I +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) | 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 (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) | Desmin-related myofibrillar myopathy +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) | Primary dilated cardiomyopathy +2 more | |
| | | Single nucleotide variant (missense 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 (missense variant) | not provided +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) | Desmin-related myofibrillar myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +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) | Desmin-related myofibrillar myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (synonymous variant) | Desmin-related myofibrillar myopathy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +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) | not specified +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 | |
| | | 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) | not provided +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 | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |