ARL13B Chromosome 3
ARF like GTPase 13B
Upload your DNA to see your personal genotypes for variants in ARL13B.
What This Gene Does
This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
ARF GTPase family
Locus Type
gene with protein product
Location
3q11.1-q11.2
Ensembl
ENSG00000169379
Associated Conditions (5)
Joubert syndrome 8
Inborn genetic diseases
ARL13B-related disorder
Joubert syndrome and related disorders
Joubert syndrome
Key Variants
RS112062713
Conflicting classifications of pathogenicity
Joubert syndrome 8, Inborn genetic diseases, Joubert syndrome 8
Health Risk
RS1291271388
Conflicting classifications of pathogenicity
Joubert syndrome 8, Joubert syndrome 8
Health Risk
RS1326813345
Conflicting classifications of pathogenicity
Joubert syndrome 8, Joubert syndrome 8
Health Risk
RS139780924
Conflicting classifications of pathogenicity
Joubert syndrome 8, Inborn genetic diseases, Joubert syndrome 8
Health Risk
RS139997243
Conflicting classifications of pathogenicity
Joubert syndrome 8, ARL13B-related disorder, Joubert syndrome 8
Health Risk
RS142510905
Conflicting classifications of pathogenicity
Joubert syndrome 8, Inborn genetic diseases, Joubert syndrome 8
Health Risk
RS146264035
Conflicting classifications of pathogenicity
Joubert syndrome 8, ARL13B-related disorder, Joubert syndrome 8
Health Risk
RS150821066
Conflicting classifications of pathogenicity
Joubert syndrome 8, Inborn genetic diseases, Joubert syndrome 8
Health Risk
RS199790565
Conflicting classifications of pathogenicity
Joubert syndrome 8, Inborn genetic diseases, Joubert syndrome 8
Health Risk
RS201046342
Conflicting classifications of pathogenicity
Joubert syndrome 8, Joubert syndrome 8
Health Risk
RS202125140
Conflicting classifications of pathogenicity
Joubert syndrome 8, Inborn genetic diseases, Joubert syndrome 8
Health Risk
RS2077033566
Conflicting classifications of pathogenicity
Joubert syndrome 8, Inborn genetic diseases, Joubert syndrome 8
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112062713 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Inborn genetic diseases, Joubert syndrome 8 |
| RS1291271388 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Joubert syndrome 8 |
| RS1326813345 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Joubert syndrome 8 |
| RS139780924 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Inborn genetic diseases, Joubert syndrome 8 |
| RS139997243 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, ARL13B-related disorder, Joubert syndrome 8 |
| RS142510905 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Inborn genetic diseases, Joubert syndrome 8 |
| RS146264035 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, ARL13B-related disorder, Joubert syndrome 8 |
| RS150821066 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Inborn genetic diseases, Joubert syndrome 8 |
| RS199790565 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Inborn genetic diseases, Joubert syndrome 8 |
| RS201046342 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Joubert syndrome 8 |
| RS202125140 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Inborn genetic diseases, Joubert syndrome 8 |
| RS2077033566 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Inborn genetic diseases, Joubert syndrome 8 |
| RS373173586 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Joubert syndrome 8 |
| RS375770842 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, ARL13B-related disorder, Joubert syndrome 8 |
| RS529580146 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Joubert syndrome 8 |
| RS550306731 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Inborn genetic diseases, Joubert syndrome 8 |
| RS555792435 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Joubert syndrome 8 |
| RS750183691 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Joubert syndrome 8 |
| RS758972393 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Joubert syndrome 8 |
| RS765240700 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Joubert syndrome 8 |
| RS779260568 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Joubert syndrome and related disorders, Joubert syndrome 8 |
| RS863225149 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 8, Joubert syndrome 8 |
| RS1710156502 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS2076888595 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS2107192097 | Health Risk | Likely pathogenic | Joubert syndrome 8, Joubert syndrome 8 |
| RS2471955328 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS2472122003 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS761785586 | Health Risk | Likely pathogenic | Joubert syndrome 8, Joubert syndrome 8 |
| RS786205563 | Health Risk | Likely pathogenic | — |
| RS1159609485 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS121912606 | Health Risk | Pathogenic | Joubert syndrome 8, Joubert syndrome 8 |
| RS121912607 | Health Risk | Pathogenic | Joubert syndrome 8, Joubert syndrome 8 |
| RS1362774896 | Health Risk | Pathogenic | Joubert syndrome 8, Joubert syndrome 8 |
| RS1378981995 | Health Risk | Pathogenic | Joubert syndrome 8, Joubert syndrome and related disorders, Joubert syndrome 8 |
| RS138982484 | Health Risk | Pathogenic | Joubert syndrome 8, Joubert syndrome 8 |
| RS2107111639 | Health Risk | Pathogenic | Joubert syndrome 8, Joubert syndrome 8 |
| RS2107152691 | Health Risk | Pathogenic | Joubert syndrome 8, Joubert syndrome 8 |
| RS752472169 | Health Risk | Pathogenic | Joubert syndrome 8, Joubert syndrome and related disorders, Joubert syndrome 8 |
| RS760756412 | Health Risk | Pathogenic | Joubert syndrome 8, Joubert syndrome 8 |
| RS767905644 | Health Risk | Pathogenic | Joubert syndrome 8, Joubert syndrome 8 |
| RS1180104221 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 8, Joubert syndrome 8 |
| RS121912608 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 8, Joubert syndrome and related disorders, Joubert syndrome 8 |
| RS1559971312 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 8, Joubert syndrome 8 |
| RS1560002959 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 8, Joubert syndrome, Joubert syndrome 8 |
| RS373604132 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 8, Joubert syndrome 8 |
| RS750642821 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 8, Joubert syndrome 8 |
| RS764109067 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome 8, Joubert syndrome and related disorders |