| | | Copy number loss | See cases | |
| | LOC129995052, LOC129995053 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ANKHD1, ANKHD1-DT +224 more | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Limb-Girdle Muscular Dystrophy, Dominant +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Limb-Girdle Muscular Dystrophy, Dominant +2 more | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Myofibrillar Myopathy, Dominant +2 more | |
| | | Deletion (5 prime UTR variant +1 more) | Myofibrillar Myopathy, Dominant +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (intron variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | MYOT-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (intron variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Limb-Girdle Muscular Dystrophy, Dominant +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 3 | |
| | | Microsatellite (inframe_indel +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Deletion (frameshift variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (intron variant +1 more) | Myofibrillar myopathy 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | MYOT-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (intron variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (no sequence alteration +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar myopathy 3 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (intron variant +2 more) | Myofibrillar myopathy 3 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar myopathy 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar myopathy 3 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar Myopathy, Dominant +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Limb-Girdle Muscular Dystrophy, Dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | MYOT-related condition +3 more | |
| | MYOT, PKD2L2-DT (M1I +1 more) | Single nucleotide variant (missense variant +2 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 3 | |