BBS1 Chromosome 11
Bardet-Biedl syndrome 1
Upload your DNA to see your personal genotypes for variants in BBS1.
What This Gene Does
Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
BBSome
Locus Type
gene with protein product
Location
11q13.2
Ensembl
ENSG00000174483
Associated Conditions (16)
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Inborn genetic diseases
BBS1-related disorder
Retinal dystrophy
BBS1-related ciliopathy
Retinitis pigmentosa
Thyroid cancer
nonmedullary
1
Lung cancer
Familial cancer of breast
Usher syndrome
See cases
Severe early-childhood-onset retinal dystrophy
Retinal disorder
Key Variants
RS1037134217
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Inborn genetic diseases
Health Risk
RS111358560
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, BBS1-related disorder
Health Risk
RS113994179
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
Health Risk
RS113994180
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
Health Risk
RS121917778
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, Retinal dystrophy
Health Risk
RS1316472200
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Inborn genetic diseases
Health Risk
RS141429900
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
Health Risk
RS141528309
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, BBS1-related disorder
Health Risk
RS142243482
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
Health Risk
RS142648652
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, BBS1-related disorder
Health Risk
RS143495423
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, BBS1-related disorder
Health Risk
RS143592479
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, BBS1-related disorder
Health Risk
All Variants (230)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1856478896 | Health Risk | Pathogenic | — |
| RS1856517666 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1856788934 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2134771570 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome |
| RS2134771631 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2134780429 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome |
| RS2134797289 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2134836723 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2134836882 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2134841394 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495728234 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495736635 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495736709 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495736716 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495739867 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495741498 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495752844 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495760139 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495760621 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495776917 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495779741 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495780320 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495795815 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495830146 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495830212 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495830848 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495847870 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS587777829 | Health Risk | Pathogenic | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, BBS1-related disorder |
| RS587777830 | Health Risk | Pathogenic | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, BBS1-related disorder |
| RS745656125 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Retinal dystrophy |
| RS748523268 | Health Risk | Pathogenic | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, Bardet-Biedl syndrome 1 |
| RS751753112 | Health Risk | Pathogenic | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, Bardet-Biedl syndrome 1 |
| RS762276925 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Retinitis pigmentosa, Bardet-Biedl syndrome 1 |
| RS764245266 | Health Risk | Pathogenic | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS766218865 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS775769424 | Health Risk | Pathogenic | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, BBS1-related disorder |
| RS777143614 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS778850233 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome |
| RS786204444 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, BBS1-related disorder |
| RS794727006 | Health Risk | Pathogenic | Retinal dystrophy, Bardet-Biedl syndrome, Bardet-Biedl syndrome 1 |
| RS869025204 | Health Risk | Pathogenic | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1 |
| RS869025205 | Health Risk | Pathogenic | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, Bardet-Biedl syndrome 1 |
| RS886039798 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1057516371 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, Bardet-Biedl syndrome 1 |
| RS1057517007 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, Bardet-Biedl syndrome 1 |
| RS1057517332 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome |
| RS113624356 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, Retinal dystrophy |
| RS1166022838 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Retinal dystrophy |
| RS1166459319 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome |
| RS1222159281 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome |