ARL6 Chromosome 3
ARF like GTPase 6
Upload your DNA to see your personal genotypes for variants in ARL6.
What This Gene Does
The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
ARF GTPase family
Locus Type
gene with protein product
Location
3q11.2
Ensembl
ENSG00000113966
Associated Conditions (11)
Retinitis pigmentosa
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
ARL6-related disorder
Retinal dystrophy
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Inborn genetic diseases
Abnormality of the eye
Autosomal recessive retinitis pigmentosa
modifier of
Key Variants
RS143739859
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Bardet-Biedl syndrome 3, Retinitis pigmentosa
Health Risk
RS148745414
Conflicting classifications of pathogenicity
Retinitis pigmentosa 55, Bardet-Biedl syndrome 3, ARL6-related disorder
Health Risk
RS184213166
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 3, Retinitis pigmentosa, Bardet-Biedl syndrome 3
Health Risk
RS201939836
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
Health Risk
RS202044896
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Retinal dystrophy
Health Risk
RS2037381055
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome
Health Risk
RS370656150
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 1
Health Risk
RS764523283
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, ARL6-related disorder
Health Risk
RS779384199
Conflicting classifications of pathogenicity
Retinitis pigmentosa 55, Bardet-Biedl syndrome 3, ARL6-related disorder
Health Risk
RS1195519595
Likely pathogenic
Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3
Health Risk
RS1324418374
Likely pathogenic
Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3
Health Risk
RS1576465252
Likely pathogenic
Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143739859 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Bardet-Biedl syndrome 3, Retinitis pigmentosa |
| RS148745414 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 55, Bardet-Biedl syndrome 3, ARL6-related disorder |
| RS184213166 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 3, Retinitis pigmentosa, Bardet-Biedl syndrome 3 |
| RS201939836 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Bardet-Biedl syndrome 3, Retinitis pigmentosa 55 |
| RS202044896 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Retinal dystrophy |
| RS2037381055 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS370656150 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 1 |
| RS764523283 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, ARL6-related disorder |
| RS779384199 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 55, Bardet-Biedl syndrome 3, ARL6-related disorder |
| RS1195519595 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3 |
| RS1324418374 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3 |
| RS1576465252 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3 |
| RS2036471593 | Health Risk | Likely pathogenic | Retinitis pigmentosa 55, Bardet-Biedl syndrome 3, Bardet-Biedl syndrome 1 |
| RS2037378158 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3 |
| RS2108053962 | Health Risk | Likely pathogenic | Abnormality of the eye, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3 |
| RS2529896839 | Health Risk | Likely pathogenic | Retinitis pigmentosa 55, Bardet-Biedl syndrome 3, Retinitis pigmentosa 55 |
| RS2529941574 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2529972867 | Health Risk | Likely pathogenic | Retinitis pigmentosa 55, Bardet-Biedl syndrome 3, ARL6-related disorder |
| RS587777805 | Health Risk | Likely pathogenic | Retinitis pigmentosa 55, Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 55 |
| RS765715798 | Health Risk | Likely pathogenic | Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3 |
| RS888140182 | Health Risk | Likely pathogenic | — |
| RS104893678 | Health Risk | Pathogenic | Bardet-Biedl syndrome 3, Bardet-Biedl syndrome, Retinitis pigmentosa 55 |
| RS104893681 | Health Risk | Pathogenic | Bardet-Biedl syndrome 3, Bardet-Biedl syndrome 3 |
| RS1057515576 | Health Risk | Pathogenic | Bardet-Biedl syndrome 3, Bardet-Biedl syndrome 3 |
| RS1402463567 | Health Risk | Pathogenic | Retinitis pigmentosa 55, Bardet-Biedl syndrome 3, Retinitis pigmentosa 55 |
| RS1434357322 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1559679965 | Health Risk | Pathogenic | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, ARL6-related disorder |
| RS2037147164 | Health Risk | Pathogenic | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, ARL6-related disorder |
| RS2037541934 | Health Risk | Pathogenic | Retinitis pigmentosa 55, Bardet-Biedl syndrome 3, ARL6-related disorder |
| RS2037751886 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2037752645 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2107977736 | Health Risk | Pathogenic | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3 |
| RS2529766743 | Health Risk | Pathogenic | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3 |
| RS2529895361 | Health Risk | Pathogenic | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3 |
| RS2529896796 | Health Risk | Pathogenic | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3 |
| RS2529939513 | Health Risk | Pathogenic | Retinitis pigmentosa 55, Retinitis pigmentosa 55 |
| RS2529939726 | Health Risk | Pathogenic | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3 |
| RS2529974016 | Health Risk | Pathogenic | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3 |
| RS2529975182 | Health Risk | Pathogenic | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3 |
| RS754763072 | Health Risk | Pathogenic | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3 |
| RS771628868 | Health Risk | Pathogenic | Retinitis pigmentosa 55, Bardet-Biedl syndrome 3, Bardet-Biedl syndrome 1 |
| RS104893679 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 1, modifier of, Bardet-Biedl syndrome 3 |
| RS104893680 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 3, Retinitis pigmentosa, Retinitis pigmentosa 55 |
| RS137854907 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 3, Retinitis pigmentosa 55 |
| RS756341249 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome |
| RS771054395 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Bardet-Biedl syndrome 3, Retinitis pigmentosa 55 |