| | MYOT, PKD2L2-DT (S9L +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Myofibrillar myopathy 3 | |
| | | Deletion (frameshift variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Deletion | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (G297del +2 more) | Deletion (inframe_deletion) | Myofibrillar myopathy 3 +1 more | |
| | MYOT, PKD2L2-DT (Q212* +2 more) | Single nucleotide variant (nonsense) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (L349F +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (Q360P +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (D217G +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 3 | |
| | | Deletion (intron variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (P143S +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 | |
| | PKD2L2-DT, MYOT (P192A +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (F266S +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (E178D +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (F247C +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (A34V +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Deletion (nonsense) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (T288I +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (L351F +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (S114G +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (Q42L +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (P376T +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (R4fs +2 more) | Deletion (frameshift variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (I158T +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (C167Y +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (M75R +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (T436K +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 +1 more | |
| | MYOT, PKD2L2-DT (P377T +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (R271W +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 +1 more | |
| | MYOT, PKD2L2-DT (R188K +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (M144V +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (A131V +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (E178K +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (A137T +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (A186S +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Deletion (frameshift variant +1 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (D228H +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (T170P +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (splice acceptor variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (F276L +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 +2 more | |
| | MYOT, PKD2L2-DT (R301H +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (V341I +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (R328K +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (S189L +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (T105R +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (T317S +2 more) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | MYOT, PKD2L2-DT (Q7* +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (Q187H +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (P108S +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (V237M +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (E480del +2 more) | Deletion (inframe_deletion) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (V289fs +2 more) | Duplication (frameshift variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (L180W +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (N208S +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (V152L +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant) | 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 (intron variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Myofibrillar myopathy 3 | |