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 |
|---|---|---|---|
| RS2485071653 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485071851 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485072020 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485072704 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485073088 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485073277 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485073388 | Health Risk | Pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485074960 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485075215 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485075555 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485075571 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485075660 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485075691 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485077068 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485077112 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485077222 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485077223 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485077370 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485077774 | Health Risk | Pathogenic | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1 |
| RS2485077890 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485078040 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485078123 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485078438 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485078441 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485078798 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485078835 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485078915 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485078970 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485079012 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS587777801 | Health Risk | Pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS587777802 | Health Risk | Pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS747904021 | Health Risk | Pathogenic | — |
| RS750185673 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS751384954 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS754448484 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS759455327 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS777861896 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1057517193 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, BBS12-related disorder |
| RS1194574169 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS1195341481 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS1269565757 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS1283655166 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, BBS12-related disorder |
| RS1365414881 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS138011813 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Retinal dystrophy, Bardet-Biedl syndrome 12 |
| RS1381368546 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS1397714772 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Abnormality of the nervous system |
| RS1553941258 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS1553941304 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Retinal dystrophy, Bardet-Biedl syndrome |
| RS1553941369 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS1553941391 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |