ARMC9 Chromosome 2
Armadillo repeat containing 9
Upload your DNA to see your personal genotypes for variants in ARMC9.
What This Gene Does
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]
Gene Info
Gene Group
"Armadillo repeat containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
2q37.1
Ensembl
ENSG00000135931
Associated Conditions (10)
ARMC9-related Joubert syndrome
Joubert syndrome
Joubert syndrome 30
Inborn genetic diseases
Corpus callosum
agenesis of
Diabetes mellitus
ARMC9-related disorder
Dandy-Walker syndrome
Malignant tumor of urinary bladder
Key Variants
RS1114167447
Conflicting classifications of pathogenicity
ARMC9-related Joubert syndrome, Joubert syndrome, Joubert syndrome 30
Health Risk
RS138555701
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201590882
Conflicting classifications of pathogenicity
Corpus callosum, agenesis of, Diabetes mellitus
Health Risk
RS201901213
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202164814
Conflicting classifications of pathogenicity
ARMC9-related disorder, ARMC9-related disorder
Health Risk
RS2045539003
Conflicting classifications of pathogenicity
Joubert syndrome 30, Joubert syndrome 30
Health Risk
RS564939247
Conflicting classifications of pathogenicity
Health Risk
RS750247691
Conflicting classifications of pathogenicity
ARMC9-related Joubert syndrome, Joubert syndrome 30, Joubert syndrome
Health Risk
RS752980410
Conflicting classifications of pathogenicity
Joubert syndrome 30, Joubert syndrome 30
Health Risk
RS769363225
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1190417376
Likely pathogenic
Health Risk
RS1220581324
Likely pathogenic
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1114167447 | Health Risk | Conflicting classifications of pathogenicity | ARMC9-related Joubert syndrome, Joubert syndrome, Joubert syndrome 30 |
| RS138555701 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201590882 | Health Risk | Conflicting classifications of pathogenicity | Corpus callosum, agenesis of, Diabetes mellitus |
| RS201901213 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202164814 | Health Risk | Conflicting classifications of pathogenicity | ARMC9-related disorder, ARMC9-related disorder |
| RS2045539003 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 30, Joubert syndrome 30 |
| RS564939247 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750247691 | Health Risk | Conflicting classifications of pathogenicity | ARMC9-related Joubert syndrome, Joubert syndrome 30, Joubert syndrome |
| RS752980410 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 30, Joubert syndrome 30 |
| RS769363225 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1190417376 | Health Risk | Likely pathogenic | — |
| RS1220581324 | Health Risk | Likely pathogenic | — |
| RS1232994809 | Health Risk | Likely pathogenic | — |
| RS1248147660 | Health Risk | Likely pathogenic | Joubert syndrome 30, Joubert syndrome 30 |
| RS1574742486 | Health Risk | Likely pathogenic | — |
| RS201514487 | Health Risk | Likely pathogenic | — |
| RS2040982837 | Health Risk | Likely pathogenic | — |
| RS2469737879 | Health Risk | Likely pathogenic | — |
| RS2469747764 | Health Risk | Likely pathogenic | — |
| RS375762122 | Health Risk | Likely pathogenic | — |
| RS753730553 | Health Risk | Likely pathogenic | — |
| RS756655815 | Health Risk | Likely pathogenic | — |
| RS757763630 | Health Risk | Likely pathogenic | — |
| RS780265931 | Health Risk | Likely pathogenic | ARMC9-related Joubert syndrome, Joubert syndrome, Dandy-Walker syndrome |
| RS781417301 | Health Risk | Likely pathogenic | — |
| RS1189780573 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS1330612935 | Health Risk | Pathogenic | Joubert syndrome 30, Joubert syndrome 30 |
| RS1331571804 | Health Risk | Pathogenic | Joubert syndrome 30, Joubert syndrome 30 |
| RS1346443930 | Health Risk | Pathogenic | — |
| RS2039791235 | Health Risk | Pathogenic | — |
| RS2125334326 | Health Risk | Pathogenic | — |
| RS2125446588 | Health Risk | Pathogenic | — |
| RS2469664049 | Health Risk | Pathogenic | — |
| RS2469792629 | Health Risk | Pathogenic | — |
| RS2469837328 | Health Risk | Pathogenic | — |
| RS372770167 | Health Risk | Pathogenic | ARMC9-related Joubert syndrome, Joubert syndrome 30, Joubert syndrome |
| RS754385274 | Health Risk | Pathogenic | Joubert syndrome 30, Joubert syndrome 30 |
| RS757131811 | Health Risk | Pathogenic | — |
| RS763539113 | Health Risk | Pathogenic | — |
| RS1114167448 | Health Risk | Pathogenic/Likely pathogenic | ARMC9-related Joubert syndrome, Joubert syndrome 30, Joubert syndrome |
| RS1114167449 | Health Risk | Pathogenic/Likely pathogenic | ARMC9-related Joubert syndrome, Joubert syndrome 30, Joubert syndrome |
| RS753432312 | Health Risk | Pathogenic/Likely pathogenic | ARMC9-related Joubert syndrome, Joubert syndrome 30, Joubert syndrome |
| RS759799287 | Health Risk | Pathogenic/Likely pathogenic | ARMC9-related Joubert syndrome, Joubert syndrome 30, Joubert syndrome |
| RS766572502 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 30, Joubert syndrome 30 |