| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (A186T +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MYOT, PKD2L2-DT (N330K +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Duplication | not provided | |
| | | Deletion | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (G297del +2 more) | Deletion (inframe_deletion) | not specified | |
| | MYOT, PKD2L2-DT (H213Q +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MYOT, PKD2L2-DT (L308F +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MYOT, PKD2L2-DT (Q212* +2 more) | Single nucleotide variant (nonsense) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (W168* +2 more) | Single nucleotide variant (nonsense) | MYOT-related disorder | |
| | | 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 | |
| | | 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 | |
| | | 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 | |
| | MYOT, PKD2L2-DT (P377T +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (synonymous variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (K285R +2 more) | Single nucleotide variant (missense variant) | MYOT-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (Q135P +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | MYOT, PKD2L2-DT (A196T +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MYOT, PKD2L2-DT (R271W +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 +1 more | |
| | MYOT, PKD2L2-DT (P274T +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | MYOT, PKD2L2-DT (K140M +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | MYOT, PKD2L2-DT (Q262fs +2 more) | Deletion (frameshift variant) | not specified | |
| | 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 | |
| | | Deletion | STING-associated vasculopathy with onset in infancy | |
| | ANKHD1, ANKHD1-EIF4EBP3 +53 more | Duplication | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Myofibrillar myopathy 3 | |
| | MYOT, PKD2L2-DT (Y66H +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MYOT, PKD2L2-DT (F276L +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 +2 more | |
| | MYOT, PKD2L2-DT (E311Q +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MYOT, PKD2L2-DT (E47K +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | 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 | |
| | PKD2L2-DT, MYOT (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 | |