BBS12 Chromosome 4
Bardet-Biedl syndrome 12
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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 |
|---|---|---|---|
| RS115635198 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 12, BBS12-related disorder, Bardet-Biedl syndrome |
| RS116805550 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, BBS12-related disorder, Inborn genetic diseases |
| RS1351171130 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Inborn genetic diseases, Bardet-Biedl syndrome |
| RS1357690062 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS138036823 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome |
| RS139278612 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 12 |
| RS140895713 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS142593414 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS143960329 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS144855583 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS1450190654 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Retinal dystrophy |
| RS145392789 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, BBS12-related disorder |
| RS145489987 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, BBS12-related disorder |
| RS145847043 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS17006082 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 12 |
| RS186713451 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, BBS12-related disorder |
| RS2150736114 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS2485074365 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS34652786 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, BBS12-related disorder |
| RS369696220 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, BBS12-related disorder, Inborn genetic diseases |
| RS565073445 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS746904755 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS747159816 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, BBS12-related disorder |
| RS749107412 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS756955366 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS758217005 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Retinal dystrophy, Bardet-Biedl syndrome 12 |
| RS759088490 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 12, Retinal dystrophy, Bardet-Biedl syndrome |
| RS767068756 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Retinal dystrophy |
| RS767882942 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Inborn genetic diseases, Bardet-Biedl syndrome |
| RS770047331 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, BBS12-related disorder, Inborn genetic diseases |
| RS771456483 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Retinitis pigmentosa |
| RS771980986 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS776730549 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, BBS12-related disorder |
| RS778351153 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Inborn genetic diseases |
| RS886059058 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS886059059 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, BBS12-related disorder |
| RS1022524996 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS1177246173 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS121918328 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome, Retinal dystrophy |
| RS1284876635 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS1354316710 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS1553941255 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS1553941279 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS1553941540 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS1560707540 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS1560707962 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS1578489760 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS1578491064 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1578491070 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1800911222 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |