BBS2 Chromosome 16

Bardet-Biedl syndrome 2
256 variants 256 Health Risk

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What This Gene Does
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]
Gene Info
Gene Group
BBSome
Locus Type
gene with protein product
Location
16q13
Ensembl
ENSG00000125124
Associated Conditions (19)
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 1
Retinitis pigmentosa 74
Retinal dystrophy
Early onset severe obesity
BBS2-related disorder
Retinitis pigmentosa
Inborn genetic diseases
Cervical cancer
BBS2-related ciliopathy
Bardet-biedl syndrome 1/2
digenic
BARDET-BIEDL SYNDROME 2/6
DIGENIC
Sarcoma
Retinal disorder
Bardet-biedl syndrome 2/4
Autosomal recessive retinitis pigmentosa
Key Variants
RS11373
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 1
Health Risk
RS115328064
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, BBS2-related disorder
Health Risk
RS117033008
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 2
Health Risk
RS1375309270
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
Health Risk
RS1386789664
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS139945733
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, BBS2-related disorder
Health Risk
RS141046144
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
Health Risk
RS141563594
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinal dystrophy
Health Risk
RS141683908
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, BBS2-related disorder, Inborn genetic diseases
Health Risk
RS141731677
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, BBS2-related disorder
Health Risk
RS1430976492
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
Health Risk
RS1567575193
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome 2
Health Risk
All Variants (256)
RSID Category Clinical Significance Conditions
RS11373 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 1
RS115328064 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, BBS2-related disorder
RS117033008 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 2
RS1375309270 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS1386789664 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS139945733 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, BBS2-related disorder
RS141046144 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS141563594 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinal dystrophy
RS141683908 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS2-related disorder, Inborn genetic diseases
RS141731677 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, BBS2-related disorder
RS1430976492 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS1567575193 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome 2
RS1567584842 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS186893286 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinal dystrophy
RS191867233 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, BBS2-related disorder
RS199655331 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, BBS2-related disorder
RS200021475 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74
RS200621431 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS2288057 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Retinal dystrophy, BBS2-related disorder
RS34191306 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS368760651 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74
RS370024579 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Retinitis pigmentosa 74, Bardet-Biedl syndrome 2
RS370581600 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinal dystrophy
RS370960689 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS371851180 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS376380339 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Inborn genetic diseases
RS376715521 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS41280892 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS560910758 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, BBS2-related disorder
RS748014865 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS2-related disorder, Retinitis pigmentosa 74
RS748579225 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS749983428 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS751604858 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, BBS2-related disorder
RS755877218 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74
RS757521927 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, BBS2-related disorder
RS758548498 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74
RS759629466 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS766873519 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, BBS2-related disorder
RS768215650 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases, Bardet-Biedl syndrome
RS768647514 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, BBS2-related disorder
RS770497817 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, BBS2-related disorder
RS771297840 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS771554929 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS778543585 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 74, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS779677560 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74
RS786205498 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS797045155 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 74, Bardet-Biedl syndrome 2, Retinitis pigmentosa
RS886043059 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Retinal dystrophy, Retinitis pigmentosa 74
RS886052144 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, BBS2-related disorder
RS886052149 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
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