| | MYO18B, MYO18B-AS1 (R1509T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | |
| | MYO18B, MYO18B-AS1 (R1598Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | MYO18B, MYO18B-AS1 (V1590F +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | MYO18B, MYO18B-AS1 (F1451L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MYO18B, MYO18B-AS1 (S1562fs +1 more) | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | MYO18B, MYO18B-AS1 (R1464Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | MYO18B, MYO18B-AS1 (D1584E +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | MYO18B, MYO18B-AS1 (G1490fs +1 more) | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | |
| | | Single nucleotide variant (nonsense) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | |
| | | Indel (intron variant) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | |
| | | Duplication (frameshift variant) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | MYO18B, MYO18B-AS1 (A1549S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MYO18B, MYO18B-AS1 (K1487E +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MYO18B, MYO18B-AS1 (R1467W +1 more) | Single nucleotide variant (missense variant) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more | |
| | MYO18B, MYO18B-AS1 (R1599* +1 more) | Single nucleotide variant (nonsense) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more | |
| | MYO18B, MYO18B-AS1 (C1539* +1 more) | Single nucleotide variant (nonsense) | not provided | |
| | MYO18B, MYO18B-AS1 (E1553L +1 more) | Indel (missense variant) | not provided | |
| | MYO18B, MYO18B-AS1 (E1560D +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | MYO18B, MYO18B-AS1 (A1515G +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MYO18B, MYO18B-AS1 (A1550V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MYO18B, MYO18B-AS1 (L1537Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MYO18B, MYO18B-AS1 (D1566N +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (missense variant) | not provided | |
| | MYO18B, MYO18B-AS1 (Q1503* +1 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | MYO18B, MYO18B-AS1 (Q1606R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MYO18B, MYO18B-AS1 (R1451H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MYO18B, MYO18B-AS1 (R1536C +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | MYO18B, MYO18B-AS1 (Q1574* +1 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | MYO18B, MYO18B-AS1 (H1482R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | MYO18B, MYO18B-AS1 (D1516V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MYO18B, MYO18B-AS1 (D1587V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MYO18B, MYO18B-AS1 (S1479R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MYO18B, MYO18B-AS1 (R1521H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MYO18B, MYO18B-AS1 (F1523V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | MYO18B, MYO18B-AS1 (D1454N +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MYO18B, MYO18B-AS1 (A1571S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | MYO18B-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | MYO18B, MYO18B-AS1 (E1601G +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | MYO18B, MYO18B-AS1 (R1472Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MYO18B, MYO18B-AS1 (Q1483H +1 more) | Single nucleotide variant (missense variant) | not provided | |