NM_032608.7(MYO18B):c.2848C>T (p.Gln950Ter)Pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided
β
β
ββ2026β Residue 950
NM_032608.7(MYO18B):c.3110G>A (p.Trp1037Ter)Pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided
β
β
ββ2026β Residue 1037
NM_032608.7(MYO18B):c.1385_1386del (p.Glu462fs)Pathogenic
not provided
β
β
ββ2025β Residue 462
NM_032608.7(MYO18B):c.5197C>T (p.Gln1733Ter)Pathogenic
not provided|MYO18B-related disorder
β
β
ββ2025β Residue 1733
NM_032608.7(MYO18B):c.3880_3884del (p.Arg1294fs)Pathogenic
not provided|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
β
β
ββ2025β Residue 1294
NM_032608.7(MYO18B):c.31G>T (p.Glu11Ter)Pathogenic
not provided|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
β
β
ββ2025β Residue 11
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter)Pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
β
β
ββ2025β Residue 2302
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs)Pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided
β
β
ββ2025β Residue 2220
NM_032608.7(MYO18B):c.4792C>T (p.Arg1598Ter)Pathogenic
not provided|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
β
β
ββ2025β Residue 1598
NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs)Pathogenic
Klippel-Feil syndrome|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided
β
β
ββ2025β Residue 1680
NM_032608.7(MYO18B):c.6825G>A (p.Trp2275Ter)Pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided|Inborn genetic diseases
β
β
ββ2025β Residue 2275
NM_032608.7(MYO18B):c.169C>T (p.Gln57Ter)Pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided
β
β
ββ2025β Residue 57
NM_032608.7(MYO18B):c.4796del (p.Asn1599fs)Pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided
β
β
ββ2024β Residue 1599
NM_032608.7(MYO18B):c.2626C>T (p.Arg876Ter)Pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided
β
β
ββ2024β Residue 876
NM_032608.7(MYO18B):c.4087C>T (p.Arg1363Ter)Pathogenic
not provided|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
β
β
ββ2023β Residue 1363
NM_032608.7(MYO18B):c.530del (p.Pro177fs)Pathogenic
not provided|MYO18B-related disorder
β
β
ββ2023β Residue 177
NM_032608.7(MYO18B):c.2212-1G>APathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided
β
β
ββ2023
NM_032608.7(MYO18B):c.1692+1G>ALikely pathogenic
MYO18B-related disorder|not provided
β
β
ββ2023
NM_032608.7(MYO18B):c.5884C>T (p.Arg1962Ter)Likely pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
β
βββ2026β Residue 1962
NM_032608.7(MYO18B):c.3520A>T (p.Lys1174Ter)Pathogenic
not provided
β
βββ2026β Residue 1174