MYO18B Chromosome 22
Myosin XVIIIB
Upload your DNA to see your personal genotypes for variants in MYO18B.
What This Gene Does
The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Myosin heavy chains, class XVIII
Locus Type
gene with protein product
Location
22q12.1
Ensembl
ENSG00000133454
Associated Conditions (7)
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Inborn genetic diseases
MYO18B-related disorder
See cases
Limb-girdle muscular dystrophy
Nemaline myopathy
Klippel-Feil syndrome
Key Variants
RS116601609
Conflicting classifications of pathogenicity
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Health Risk
RS117243697
Conflicting classifications of pathogenicity
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Health Risk
RS1246598364
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144405093
Conflicting classifications of pathogenicity
Inborn genetic diseases, MYO18B-related disorder, Inborn genetic diseases
Health Risk
RS147879793
Conflicting classifications of pathogenicity
MYO18B-related disorder, Inborn genetic diseases, MYO18B-related disorder
Health Risk
RS149103381
Conflicting classifications of pathogenicity
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Health Risk
RS150188738
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS183362649
Conflicting classifications of pathogenicity
MYO18B-related disorder, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MYO18B-related disorder
Health Risk
RS185802314
Conflicting classifications of pathogenicity
Inborn genetic diseases, MYO18B-related disorder, Inborn genetic diseases
Health Risk
RS189538616
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS192379299
Conflicting classifications of pathogenicity
Health Risk
RS192639023
Conflicting classifications of pathogenicity
MYO18B-related disorder, MYO18B-related disorder
Health Risk
All Variants (143)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS368091174 | Health Risk | Pathogenic | — |
| RS368416287 | Health Risk | Pathogenic | — |
| RS372939044 | Health Risk | Pathogenic | — |
| RS375819351 | Health Risk | Pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS537916951 | Health Risk | Pathogenic | — |
| RS539007966 | Health Risk | Pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS549856684 | Health Risk | Pathogenic | — |
| RS567970076 | Health Risk | Pathogenic | — |
| RS746867546 | Health Risk | Pathogenic | — |
| RS751557279 | Health Risk | Pathogenic | — |
| RS753392428 | Health Risk | Pathogenic | — |
| RS753585568 | Health Risk | Pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS757071771 | Health Risk | Pathogenic | — |
| RS758997504 | Health Risk | Pathogenic | — |
| RS759928207 | Health Risk | Pathogenic | — |
| RS763943362 | Health Risk | Pathogenic | — |
| RS766858803 | Health Risk | Pathogenic | — |
| RS770857621 | Health Risk | Pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS771068336 | Health Risk | Pathogenic | — |
| RS771822497 | Health Risk | Pathogenic | — |
| RS772181597 | Health Risk | Pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS772949800 | Health Risk | Pathogenic | — |
| RS773193391 | Health Risk | Pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS774220315 | Health Risk | Pathogenic | — |
| RS775172877 | Health Risk | Pathogenic | — |
| RS775448399 | Health Risk | Pathogenic | — |
| RS778008936 | Health Risk | Pathogenic | — |
| RS869312740 | Health Risk | Pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Nemaline myopathy, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS916672722 | Health Risk | Pathogenic | — |
| RS949998454 | Health Risk | Pathogenic | — |
| RS1191610314 | Health Risk | Pathogenic/Likely pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS1443918598 | Health Risk | Pathogenic/Likely pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS1485101622 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1569172839 | Health Risk | Pathogenic/Likely pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS17704912 | Health Risk | Pathogenic/Likely pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS2087167387 | Health Risk | Pathogenic/Likely pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS267606197 | Health Risk | Pathogenic/Likely pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS556752387 | Health Risk | Pathogenic/Likely pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS748007891 | Health Risk | Pathogenic/Likely pathogenic | MYO18B-related disorder, MYO18B-related disorder |
| RS756408696 | Health Risk | Pathogenic/Likely pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS757976244 | Health Risk | Pathogenic/Likely pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS763487608 | Health Risk | Pathogenic/Likely pathogenic | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Inborn genetic diseases, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| RS775126785 | Health Risk | Pathogenic/Likely pathogenic | MYO18B-related disorder, MYO18B-related disorder |