| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Myofibrillar myopathy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Limb-Girdle Muscular Dystrophy, Dominant +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (no sequence alteration +1 more) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +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) | Myofibrillar myopathy 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | 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) | 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) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +3 more | |
| | MYOT, PKD2L2-DT (E155A +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | MYOT, PKD2L2-DT (R178H +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +5 more | GConflicting classifications of pathogenicity |
| | MYOT, PKD2L2-DT (R188I +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | MYOT, PKD2L2-DT (G191R +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 +1 more | GConflicting classifications of pathogenicity |
| | MYOT, PKD2L2-DT (G91D +1 more) | Single nucleotide variant (missense variant) | not specified +4 more | |
| | MYOT, PKD2L2-DT (S210L +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Deletion (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | MYOT, PKD2L2-DT (R219Q +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | MYOT, PKD2L2-DT (V227I +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 3 +1 more | GConflicting classifications of pathogenicity |
| | MYOT, PKD2L2-DT (I261T +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 +1 more | |
| | MYOT, PKD2L2-DT (D270H +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 +1 more | GConflicting classifications of pathogenicity |
| | MYOT, PKD2L2-DT (V312L +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | MYOT, PKD2L2-DT (E362fs +2 more) | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | MYOT, PKD2L2-DT (P376S +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 3 +1 more | |
| | MYOT, PKD2L2-DT (D286E +1 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 +4 more | GConflicting classifications of pathogenicity |
| | MYOT, PKD2L2-DT (T403S +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | MYOT, PKD2L2-DT (T422I +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | MYOT, PKD2L2-DT (A429G +2 more) | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | MYOT, PKD2L2-DT (C434R +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | MYOT, PKD2L2-DT (N467K +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 +1 more | GConflicting classifications of pathogenicity |
| | MYOT, PKD2L2-DT (L471F +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 +1 more | |
| | MYOT, PKD2L2-DT (E296G +1 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 +2 more | GConflicting classifications of pathogenicity |
| | MYOT, PKD2L2-DT (R485C +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |