BBS12 Chromosome 4
Bardet-Biedl syndrome 12
Upload your DNA to see your personal genotypes for variants in BBS12.
What This Gene Does
The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
Gene Info
Gene Group
Chaperonins
Locus Type
gene with protein product
Location
4q27
Ensembl
ENSG00000181004
Associated Conditions (15)
Bardet-Biedl syndrome 12
BBS12-related disorder
Bardet-Biedl syndrome
Inborn genetic diseases
Retinal dystrophy
Bardet-Biedl syndrome 1
BBS12-related ciliopathy
Retinitis pigmentosa
Inability to walk
Abnormal cardiovascular system morphology
Polydactyly
postaxial
type A1
Visual impairment
Abnormality of the nervous system
Key Variants
RS115635198
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 12, BBS12-related disorder, Bardet-Biedl syndrome
Health Risk
RS116805550
Conflicting classifications of pathogenicity
Inborn genetic diseases, BBS12-related disorder, Inborn genetic diseases
Health Risk
RS1351171130
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Inborn genetic diseases, Bardet-Biedl syndrome
Health Risk
RS1357690062
Conflicting classifications of pathogenicity
Retinal dystrophy, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
Health Risk
RS138036823
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
Health Risk
RS139278612
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 12
Health Risk
RS140895713
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
Health Risk
RS142593414
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome
Health Risk
RS143960329
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
Health Risk
RS144855583
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
Health Risk
RS1450190654
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Retinal dystrophy
Health Risk
RS145392789
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, BBS12-related disorder
Health Risk
All Variants (186)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553941404 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS1560706958 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS1560708847 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS1800908907 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS1800928352 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS1800928868 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1800931751 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS2150736431 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS2150736648 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS2150737331 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS2150737598 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS2150738027 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485075357 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS2485076903 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS2485077539 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS2485077697 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS2485077709 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS2485077960 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS2485078084 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS587777803 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Retinal dystrophy |
| RS745448288 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS746020725 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS746478265 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS752202089 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, BBS12-related disorder |
| RS752586913 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS752762669 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Retinitis pigmentosa, Bardet-Biedl syndrome |
| RS755314355 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS756061536 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, BBS12-related disorder |
| RS764074545 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS766741204 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS769588983 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, BBS12-related disorder |
| RS770218590 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Retinal dystrophy, Bardet-Biedl syndrome |
| RS770872200 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, BBS12-related disorder |
| RS779685329 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS865920726 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS974173261 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |