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 |
|---|---|---|---|
| RS1800925762 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2150736865 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2150737953 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485073340 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485073468 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485074560 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485074976 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485076250 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485076951 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485077084 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485077226 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485077616 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485077946 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485078182 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485078325 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485078351 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS774035109 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS934909698 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS1010403072 | Health Risk | Pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS1173504533 | Health Risk | Pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS121918327 | Health Risk | Pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Inability to walk |
| RS1339432710 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS1375925950 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1405082840 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1444062882 | Health Risk | Pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, BBS12-related disorder |
| RS151344630 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1553941312 | Health Risk | Pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS1553941433 | Health Risk | Pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS1553941580 | Health Risk | Pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS1578491135 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1800890010 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1800897309 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1800904262 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1800926856 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1800933874 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2150735761 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2150735809 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2150735961 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS2150736228 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2150736424 | Health Risk | Pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2150736605 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2150736616 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2150736842 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2150736854 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2150736986 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2150737232 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome |
| RS2150737344 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2150737655 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2150737680 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485071633 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |