ARMC9
Chr 2ARarmadillo repeat containing 9
Also known as: ARM, JBTS30, KU-MEL-1, NS21
Predicted to be involved in cilium assembly and positive regulation of smoothened signaling pathway. Located in centriole and ciliary basal body. Implicated in Joubert syndrome 30. [provided by Alliance of Genome Resources, Jul 2025]
Primary Disease Associations & Inheritance
Some data sources returned errors (1)
gnomad: Error: gnomAD API error: 502
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
795 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 | 9 | 0 | 29 | 0 | 38 |
Likely Pathogenic | 13 | 4 | 2 | 1 | 20 |
VUS | 3 | 127 | 10 | 0 | 140 |
Likely Benign | 0 | 6 | 72 | 66 | 144 |
Benign | 0 | 8 | 7 | 2 | 17 |
Conflicting | — | 9 | |||
| Total | 25 | 145 | 120 | 69 | 368 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ARMC9 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
Gene2Phenotype Curations
ARMC9-related Joubert syndrome
definitiveGene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
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