MYO9A
Chr 15ARmyosin IXA
Also known as: CMS24
This gene encodes an unconventional myosin that functions as an actin-based motor protein with ATPase activity and regulates neurite branching and motor neuron axon guidance. Mutations cause congenital myasthenic syndrome type 24 (presynaptic form), inherited in an autosomal recessive pattern. The gene shows significant constraint against loss-of-function variants (LOEUF 0.304), indicating intolerance to such changes.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
474 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 13 | 0 | 13 |
Likely Pathogenic | 2 | 0 | 2 | 0 | 4 |
VUS | 1 | 272 | 4 | 4 | 281 |
Likely Benign | 1 | 19 | 4 | 28 | 52 |
Benign | 0 | 12 | 51 | 9 | 72 |
Conflicting | — | 9 | |||
| Total | 4 | 303 | 74 | 41 | 431 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MYO9A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools