BBS2 (BBSome complex member BBS2) variants and mutations
BBS2 (also known as BBSome complex member BBS2) is a human protein-coding gene encoding a BBSome complex member protein. It contributes to BBSome assembly and ciliary cargo trafficking, which are required for signaling in photoreceptors, kidney, hypothalamus, and other tissues. Biallelic loss-of-function variants cause Bardet-Biedl syndrome. This analysis covers 1,104 BBS2 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, and retinitis pigmentosa. Example BBS2 variants include M1V, L2M, and L3P.
Variant analysis overview
- Gene: BBS2
- Protein: BBSome complex member BBS2
- UniProt accession: Q9BXC9
- Organism: Homo sapiens
- Variants analyzed: 1104
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 881 unspecified-consequence records; 5 splice-region variants; 83 synonymous variants; 108 missense variants; 20 frameshift variants; 3 in-frame deletions; 4 stop-gained variants; 1 protein altering variant; 1 substitution
- Prediction scores: 867 variants have prediction scores (79% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, retinitis pigmentosa, retinitis pigmentosa 74, Retinal dystrophy, Bardet-Biedl syndrome 1, hereditary disease, BBS2-related ciliopathy, polydactyly, focal segmental glomerulosclerosis, obesity due to melanocortin 4 receptor deficiency, Obesity.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable BBS2 variants
Examples include M1V, L2M, L3P, L3Q, P4L, V5M, F6L, T7I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1V (p.Met1Val), rs753338961, ClinGen CA8066155, ClinVar RCV003889735, ClinVar RCV005871359, MetaLR 0.68, MetaSVM 0.48, Uncertain significance, Retinal dystrophy; Retinitis pigmentosa 74
- L2M (p.Leu2Met), rs2144214806, ClinGen CA395988356, ClinVar RCV001939839, Ensembl rs2144214806, AlphaMissense 0.13, MetaLR 0.77, Uncertain significance, Bardet-Biedl syndrome
- L3P (p.Leu3Pro), rs1964870972, ClinGen CA395988342, ClinVar RCV001324414, ClinVar RCV002486299, AlphaMissense 0.28, MetaLR 0.56, Uncertain significance, Bardet-Biedl syndrome; Retinitis pigmentosa 74; Bardet-Biedl syndrome 2
- L3Q (p.Leu3Gln), rs1964870972, ClinGen CA395988343, ClinVar RCV001942472, ClinVar RCV005606989, AlphaMissense 0.28, MetaLR 0.56, Uncertain significance, Bardet-Biedl syndrome
- P4L (p.Pro4Leu), gnomAD rs1200784529, REVEL 0.87, CADD 29.50
- V5M (p.Val5Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F6L (p.Phe6Leu), TOPMed rs1376607344, gnomAD rs1376607344, REVEL 0.93, CADD 32.00
- T7I (p.Thr7Ile), TOPMed rs1437053685
- R11S (p.Arg11Ser), TOPMed rs1443254481, gnomAD rs1443254481, REVEL 0.29, CADD 23.30
- H12R (p.His12Arg), rs1238233777, ClinGen CA395988240, NCI-TCGA Cosmic COSV5532, cosmic curated COSV55328, REVEL 0.73, CADD 28.30, Uncertain significance, Bardet-Biedl syndrome
- K13E (p.Lys13Glu), gnomAD rs1350633457, REVEL 0.78, CADD 32.00
- K13R (p.Lys13Arg), ESP rs145463052, ExAC rs145463052, gnomAD rs145463052, REVEL 0.72, CADD 23.60
- S15N (p.Ser15Asn), TOPMed rs1964870002
- S15R (p.Ser15Arg), TOPMed rs1354385806, gnomAD rs1354385806, REVEL 0.22, CADD 22.20, Likely benign
- P16L (p.Pro16Leu), Ensembl rs1567588835
- R17* (p.Arg17Ter), TOPMed rs1398091050, gnomAD rs1398091050, Uncertain significance
- R17G (p.Arg17Gly), rs1398091050, ClinGen CA395988179, ClinVar RCV003112158, TOPMed rs1398091050, REVEL 0.34, CADD 23.00, Uncertain significance, Bardet-Biedl syndrome
- R17P (p.Arg17Pro), ExAC rs746353796, gnomAD rs746353796, REVEL 0.48, CADD 26.80
- R17Q (p.Arg17Gln), ExAC rs746353796, gnomAD rs746353796
- M18L (p.Met18Leu), TOPMed rs1964869222, Uncertain significance, Bardet-Biedl syndrome 2
- V19L (p.Val19Leu), rs1158566793, gnomAD rs1158566793, ClinGen CA395988153, ClinVar RCV003019183, REVEL 0.24, CADD 24.20, Uncertain significance, Bardet-Biedl syndrome
- V19M (p.Val19Met), rs1158566793, ClinGen CA395988155, ClinVar RCV001303734, ClinVar RCV001830201, REVEL 0.40, CADD 28.30, Uncertain significance, Inborn genetic diseases; Bardet-Biedl syndrome
- A20T (p.Ala20Thr), rs886052150, ClinGen CA10638051, ClinVar RCV000292388, gnomAD rs886052150, REVEL 0.14, CADD 20.50, Uncertain significance, Bardet-Biedl syndrome 2
- I21T (p.Ile21Thr), gnomAD rs1288699870, REVEL 0.22, CADD 25.10
- I21V (p.Ile21Val), rs1319616745, ClinGen CA395988132, ClinVar RCV002018526, ClinVar RCV002507806, REVEL 0.05, CADD 4.31, Uncertain significance, Bardet-Biedl syndrome; Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
- G22R (p.Gly22Arg), ESP rs371364141, ExAC rs371364141, TOPMed rs371364141, gnomAD rs371364141, REVEL 0.83, CADD 29.90
- R23L (p.Arg23Leu), rs1162842645, ClinGen CA395988106, ClinVar RCV001373231, ClinVar RCV001831323, REVEL 0.23, AlphaMissense 0.84, Uncertain significance, Bardet-Biedl syndrome
- R23P (p.Arg23Pro), rs1162842645, ClinGen CA395988105, ClinVar RCV001221796, ClinVar RCV005432620, AlphaMissense 0.84, MetaLR 0.25, Uncertain significance, not specified; Bardet-Biedl syndrome
- Y24* (p.Tyr24Ter), rs121908175, ClinGen CA116926, ClinVar RCV000004832, ClinVar RCV000412476, CADD 40.00, Pathogenic
- Y24C (p.Tyr24Cys), Ensembl rs2144214499
- Y24H (p.Tyr24His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G26E (p.Gly26Glu), TOPMed rs1277638084, gnomAD rs1277638084, REVEL 0.77, CADD 28.80
- T27I (p.Thr27Ile), gnomAD rs1259379121, REVEL 0.05, CADD 19.10
- T27P (p.Thr27Pro), rs776681366, ClinGen CA395988064, ClinVar RCV002805536, ClinVar RCV005019395, AlphaMissense 0.24, MetaLR 0.16, Pathogenic/Likely pathogenic, Bardet-Biedl syndrome 2; Retinitis pigmentosa 74; Bardet-Biedl syndrome
- T27S (p.Thr27Ser), ExAC rs776681366, TOPMed rs776681366, gnomAD rs776681366, REVEL 0.04, AlphaMissense 0.24, Pathogenic
- P29L (p.Pro29Leu), rs771211831, ClinGen CA8066146, cosmic curated COSV55327, ClinVar RCV000666462, REVEL 0.45, CADD 24.80, Uncertain significance, Bardet-Biedl syndrome 2; Retinal dystrophy
- P29R (p.Pro29Arg), ExAC rs771211831, TOPMed rs771211831, gnomAD rs771211831, Uncertain significance
- P29S (p.Pro29Ser), 1000Genomes rs562585023, gnomAD rs562585023, REVEL 0.36, CADD 23.40
- C30Y (p.Cys30Tyr), ExAC rs760778734, REVEL 0.69, CADD 27.90
- A32E (p.Ala32Glu), NCI-TCGA Cosmic COSV9980, cosmic curated COSV99802, REVEL 0.33, CADD 25.30, Variant assessed as somatic; moderate impact.
- A33D (p.Ala33Asp), rs797045155, ClinGen CA204968, ClinVar RCV000190987, ClinVar RCV000675055, REVEL 0.87, CADD 32.00, Conflicting interpretations, Bardet-Biedl syndrome; Bardet-Biedl syndrome 2
- A33G (p.Ala33Gly), TOPMed rs797045155, gnomAD rs797045155, REVEL 0.25, CADD 24.40, Pathogenic, in RP74
- A33V (p.Ala33Val), TOPMed rs797045155, gnomAD rs797045155, REVEL 0.23, CADD 32.00, Pathogenic, in RP74
- A34T (p.Ala34Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T37A (p.Thr37Ala), rs1284353332, ClinGen CA395987945, ClinVar RCV000529326, gnomAD rs1284353332, REVEL 0.17, CADD 18.10, Uncertain significance, Bardet-Biedl syndrome
- T37P (p.Thr37Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T37R (p.Thr37Arg), TOPMed rs1051893335, gnomAD rs1051893335, REVEL 0.11, CADD 24.60
- G38C (p.Gly38Cys), ExAC rs768699088, TOPMed rs768699088, gnomAD rs768699088, REVEL 0.72, CADD 31.00, Uncertain significance
- G38D (p.Gly38Asp), rs748872389, ClinGen CA8066138, ClinVar RCV002012208, ClinVar RCV002563529, REVEL 0.33, CADD 21.70, Uncertain significance, Inborn genetic diseases; Bardet-Biedl syndrome; not provided
- G38R (p.Gly38Arg), rs768699088, ClinGen CA395987935, ClinVar RCV003362525, REVEL 0.64, CADD 24.90, Uncertain significance, Inborn genetic diseases
- G38S (p.Gly38Ser), rs768699088, ClinGen CA8066139, NCI-TCGA Cosmic COSV5532, cosmic curated COSV55326, REVEL 0.36, CADD 23.30, Uncertain significance, Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome
- K39N (p.Lys39Asn), rs755877218, ClinGen CA395987917, ClinVar RCV001175187, ExAC rs755877218, AlphaMissense 0.70, MetaLR 0.77, Likely benign, Bardet-Biedl syndrome 2
- K39Q (p.Lys39Gln), TOPMed rs1597033227, Uncertain significance, not specified
- K39R (p.Lys39Arg), rs779677560, ClinGen CA8066137, ClinVar RCV001374287, ClinVar RCV002488187, REVEL 0.63, CADD 34.00, Conflicting interpretations, Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome
- V40F (p.Val40Phe), rs886043059, ClinGen CA10605056, ClinVar RCV000305383, ClinVar RCV000725618, REVEL 0.88, CADD 32.00, Conflicting interpretations, Retinitis pigmentosa 74; Retinal dystrophy; not provided
- V40G (p.Val40Gly), rs1964683448, ClinGen CA395986489, ClinVar RCV001341690, Ensembl rs1964683448, AlphaMissense 0.83, MetaLR 0.83, Uncertain significance, Bardet-Biedl syndrome
- I42M (p.Ile42Met), rs139945733, ClinGen CA8066105, ClinVar RCV000867744, ClinVar RCV001121842, REVEL 0.67, CADD 25.10, Conflicting interpretations, Bardet-Biedl syndrome 2; Bardet-Biedl syndrome
- I42S (p.Ile42Ser), gnomAD rs1308936851, REVEL 0.93, CADD 28.00
- H43R (p.His43Arg), gnomAD rs1372233418, REVEL 0.80, CADD 25.70
- N44I (p.Asn44Ile), ExAC rs764000508, TOPMed rs764000508, gnomAD rs764000508
- N44K (p.Asn44Lys), rs1555523987, ClinGen CA395986415, ClinVar RCV000503385, Ensembl rs1555523987, AlphaMissense 0.69, MetaLR 0.39, Uncertain significance, not specified
- N44S (p.Asn44Ser), ExAC rs764000508, TOPMed rs764000508, gnomAD rs764000508, REVEL 0.11, CADD 21.80
- N44T (p.Asn44Thr), NCI-TCGA Cosmic COSV5532, cosmic curated COSV55326, Variant assessed as somatic; moderate impact.
- P45T (p.Pro45Thr), rs2144193766, ClinGen CA395986409, cosmic curated COSV55327, ClinVar RCV001931845, AlphaMissense 0.45, MetaLR 0.49, Uncertain significance, Bardet-Biedl syndrome
- H46L (p.His46Leu), gnomAD rs1272132776, REVEL 0.83, CADD 23.20
- H46Y (p.His46Tyr), ExAC rs762792627, gnomAD rs762792627, REVEL 0.65, CADD 23.20
- T47I (p.Thr47Ile), TOPMed rs1964682649, REVEL 0.04, CADD 17.60, Uncertain significance, BBS2-related disorder
- T47S (p.Thr47Ser), gnomAD rs1425726025, REVEL 0.08, CADD 10.30
- R48Q (p.Arg48Gln), rs775577429, ClinGen CA8066102, NCI-TCGA Cosmic COSV5532, cosmic curated COSV55325, REVEL 0.18, CADD 24.00, Uncertain significance, Bardet-Biedl syndrome
- R48W (p.Arg48Trp), rs1030249829, ClinGen CA281485865, cosmic curated COSV55328, ClinVar RCV001277879, REVEL 0.45, CADD 27.20, Uncertain significance, Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
- N49D (p.Asn49Asp), rs2543741959, ClinGen CA395986343, ClinVar RCV003411355, REVEL 0.17, CADD 16.40, Uncertain significance, not provided
- H51R (p.His51Arg), rs1964682368, ClinGen CA395986298, NCI-TCGA Cosmic COSV5532, cosmic curated COSV55329, REVEL 0.20, CADD 13.20, Uncertain significance, Bardet-Biedl syndrome 2
- V52D (p.Val52Asp), rs2144193671, ClinGen CA395986278, ClinVar RCV002040809, Ensembl rs2144193671, REVEL 0.14, CADD 20.20, Uncertain significance, Bardet-Biedl syndrome
- S53G (p.Ser53Gly), Ensembl rs1964682198
- S53R (p.Ser53Arg), rs1250423040, ClinGen CA395986254, ClinVar RCV001058849, ClinVar RCV001273916, REVEL 0.13, CADD 13.50, Uncertain significance, Bardet-Biedl syndrome; Inborn genetic diseases
- S53T (p.Ser53Thr), Ensembl rs1597027805
- A54G (p.Ala54Gly), gnomAD rs1227592152, REVEL 0.25, CADD 19.70
- A54T (p.Ala54Thr), NCI-TCGA Cosmic COSV9980, cosmic curated COSV99802, Variant assessed as somatic; moderate impact.
- A54V (p.Ala54Val), NCI-TCGA Cosmic COSV5532, cosmic curated COSV55328, Variant assessed as somatic; moderate impact.
- R56G (p.Arg56Gly), gnomAD rs1182528195, REVEL 0.76, CADD 22.30
- R56K (p.Arg56Lys), Ensembl rs1964681625, REVEL 0.60, CADD 22.30
- R56S (p.Arg56Ser), cosmic curated COSV55326, gnomAD rs1964681550, REVEL 0.56, CADD 15.90
- V57I (p.Val57Ile), Ensembl rs1567584954
- F58L (p.Phe58Leu), TOPMed rs1483812430, gnomAD rs1483812430, REVEL 0.24, CADD 16.50
- Q59* (p.Gln59Ter), rs121908176, ClinGen CA253235, ClinVar RCV000004833, ClinVar RCV000587533, CADD 37.00, Pathogenic
- Q59R (p.Gln59Arg), TOPMed rs200491384, REVEL 0.38, CADD 21.10
- P61L (p.Pro61Leu), ExAC rs745430885, gnomAD rs745430885, REVEL 0.20, CADD 21.80
- P61T (p.Pro61Thr), Ensembl rs2144193503, REVEL 0.21, CADD 17.90
- L62V (p.Leu62Val), rs201860939, ClinGen CA8066100, ClinVar RCV001060812, ClinVar RCV001832544, REVEL 0.21, CADD 16.10, Uncertain significance, not specified; Bardet-Biedl syndrome; Inborn genetic diseases
- D65G (p.Asp65Gly), ExAC rs746643609, gnomAD rs746643609, REVEL 0.60, CADD 26.20, Uncertain significance
- D65N (p.Asp65Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D65V (p.Asp65Val), rs746643609, ClinGen CA8066098, ClinVar RCV001896380, ClinVar RCV004584229, REVEL 0.71, CADD 27.20, Uncertain significance, Bardet-Biedl syndrome 2; Bardet-Biedl syndrome
- S70=, rs4784677, ClinVar RCV000004838, ClinVar RCV000860491, AlphaMissense 0.24, MetaLR 0.66, Pathogenic
- S70I (p.Ser70Ile), 1000Genomes rs4784677, ESP rs4784677, ExAC rs4784677, TOPMed rs4784677, Pathogenic
- S70N (p.Ser70Asn), rs4784677, ClinGen CA8066097, cosmic curated COSV10730, ClinVar RCV000301991, REVEL 0.27, AlphaMissense 0.24, Benign, not specified; Retinitis pigmentosa 74; not provided
- S70T (p.Ser70Thr), 1000Genomes rs4784677, ESP rs4784677, ExAC rs4784677, TOPMed rs4784677, Pathogenic
- N72K (p.Asn72Lys), ESP rs375853147, ExAC rs375853147, gnomAD rs375853147, REVEL 0.62, CADD 24.20, Likely benign
- Q73* (p.Gln73Ter), rs199940492, ClinGen CA395985928, ClinVar RCV001264339, ClinVar RCV005014316, AlphaMissense 0.08, MetaLR 0.46, Likely pathogenic
- Q73E (p.Gln73Glu), rs199940492, ClinGen CA8066095, ClinVar RCV003089296, ESP rs199940492, REVEL 0.38, AlphaMissense 0.08, Likely benign, Bardet-Biedl syndrome
- A74S (p.Ala74Ser), TOPMed rs1413518152, gnomAD rs1413518152, REVEL 0.09, CADD 14.00
- V75G (p.Val75Gly), rs121908174, ClinGen CA253233, ClinVar RCV000004831, ClinVar RCV001002877, REVEL 0.90, CADD 26.90, Pathogenic/Likely pathogenic, BBS2-related ciliopathy; Retinitis pigmentosa 74; Bardet-Biedl syndrome 2
- S76N (p.Ser76Asn), Ensembl rs895169510, REVEL 0.09, AlphaMissense 0.07, Uncertain significance
- S76R (p.Ser76Arg), TOPMed rs1964679661
- S76T (p.Ser76Thr), rs895169510, ClinGen CA281485809, ClinVar RCV001926145, Ensembl rs895169510, AlphaMissense 0.07, MetaLR 0.11, Uncertain significance, Bardet-Biedl syndrome
- C77R (p.Cys77Arg), TOPMed rs1964679562, gnomAD rs1964679562
- C77S (p.Cys77Ser), TOPMed rs1964679562, gnomAD rs1964679562, REVEL 0.31, CADD 22.00
- C77W (p.Cys77Trp), TOPMed rs1964679347
- C77Y (p.Cys77Tyr), TOPMed rs1964679482, REVEL 0.69, CADD 25.70
- L78Q (p.Leu78Gln), TOPMed rs1310869146, gnomAD rs1310869146, REVEL 0.94, CADD 27.40
- T79N (p.Thr79Asn), ExAC rs780482248
- T79P (p.Thr79Pro), rs1387025330, ClinGen CA395985834, ClinVar RCV000694867, ClinVar RCV001830524, REVEL 0.62, CADD 22.70, Pathogenic/Likely pathogenic, Bardet-Biedl syndrome; Bardet-Biedl syndrome 2
- A80V (p.Ala80Val), rs1964679008, ClinGen CA395985797, ClinVar RCV001348618, gnomAD rs1964679008, REVEL 0.28, CADD 23.40, Uncertain significance, Bardet-Biedl syndrome
- G81C (p.Gly81Cys), rs750506474, ClinGen CA8066092, ClinVar RCV000673306, ClinVar RCV001075001, REVEL 0.92, CADD 26.70, Pathogenic/Likely pathogenic, Bardet-Biedl syndrome 2; Retinitis pigmentosa 74; Retinal dystrophy
- G81D (p.Gly81Asp), gnomAD rs1178237354
- V82I (p.Val82Ile), rs376883866, cosmic curated COSV55325, ESP rs376883866, ExAC rs376883866, REVEL 0.24, CADD 8.38, Uncertain significance, BBS2-related disorder
- V82L (p.Val82Leu), ESP rs376883866, ExAC rs376883866, TOPMed rs376883866, gnomAD rs376883866, REVEL 0.22, CADD 7.36, Uncertain significance
- N84I (p.Asn84Ile), NCI-TCGA Cosmic COSV5532, cosmic curated COSV55326, Variant assessed as somatic; moderate impact.
- P85H (p.Pro85His), NCI-TCGA Cosmic COSV9980, cosmic curated COSV99802, Variant assessed as somatic; moderate impact.
- P85S (p.Pro85Ser), ESP rs371970109, TOPMed rs371970109, gnomAD rs371970109, REVEL 0.30, CADD 21.60
- L87F (p.Leu87Phe), rs1473380265, ClinGen CA395985715, ClinVar RCV002914517, ClinVar RCV004733545, REVEL 0.24, CADD 22.20, Uncertain significance, Bardet-Biedl syndrome
- Y89C (p.Tyr89Cys), rs560910758, ClinGen CA8066088, ClinVar RCV000874389, ClinVar RCV001121839, REVEL 0.33, CADD 14.40, Conflicting interpretations, not specified; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome
- Y89H (p.Tyr89His), rs2543741451, ClinGen CA395985695, ClinVar RCV002627866, Uncertain significance, Bardet-Biedl syndrome
- D90G (p.Asp90Gly), rs1228731722, ClinGen CA395985677, ClinVar RCV001213840, ClinVar RCV005021511, REVEL 0.93, CADD 28.20, Likely pathogenic, Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome
- D90N (p.Asp90Asn), rs2543741427, ClinGen CA395985683, ClinVar RCV002751390, Uncertain significance, Bardet-Biedl syndrome
- A91D (p.Ala91Asp), rs2144193029, ClinGen CA395985663, ClinVar RCV001915486, Ensembl rs2144193029, AlphaMissense 0.62, MetaLR 0.16, Uncertain significance, Bardet-Biedl syndrome
- L93* (p.Leu93Ter), rs2543741373, ClinGen CA395985643, ClinVar RCV003465067, Likely pathogenic
- L93F (p.Leu93Phe), rs886042185, ClinGen CA10603910, ClinVar RCV000379296, Ensembl rs886042185, AlphaMissense 0.14, MetaLR 0.16, Uncertain significance, not provided
- V94M (p.Val94Met), ExAC rs762859210, TOPMed rs762859210, gnomAD rs762859210
- T96K (p.Thr96Lys), rs2144192969, ClinGen CA395985610, ClinVar RCV002253056, Ensembl rs2144192969, AlphaMissense 0.82, MetaLR 0.50, Uncertain significance, See cases
- Q97* (p.Gln97Ter), rs1964676925, ClinGen CA395985601, ClinVar RCV001264338, Ensembl rs1964676925, Likely pathogenic
- T98A (p.Thr98Ala), TOPMed rs1964676797, REVEL 0.47, CADD 24.30, Uncertain significance, Inborn genetic diseases
- T98N (p.Thr98Asn), gnomAD rs1214338400, REVEL 0.36, CADD 22.50
- L100F (p.Leu100Phe), NCI-TCGA Cosmic COSV9980, cosmic curated COSV99802, Variant assessed as somatic; moderate impact.
- L101* (p.Leu101Ter), rs1964676419, ClinGen CA395985543, ClinVar RCV001264337, Ensembl rs1964676419, Likely pathogenic
- A102G (p.Ala102Gly), Ensembl rs1964676278
- Y103* (p.Tyr103Ter), Ensembl rs906662502
- Y103H (p.Tyr103His), TOPMed rs1316813455, gnomAD rs1316813455, REVEL 0.95, CADD 28.20, Uncertain significance, Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
- D104A (p.Asp104Ala), rs121908179, ClinGen CA116932, ClinVar RCV000004839, ClinVar RCV000190985, REVEL 0.86, CADD 27.80, Pathogenic, Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; not provided
- D104Y (p.Asp104Tyr), NCI-TCGA Cosmic COSV5532, cosmic curated COSV55326, Variant assessed as somatic; moderate impact., in BBS2 and RP74
- V105I (p.Val105Ile), gnomAD rs1964675710
- Y106* (p.Tyr106Ter), gnomAD rs1964675433, CADD 35.00, Likely benign
- Y106C (p.Tyr106Cys), ExAC rs759489551, TOPMed rs759489551, gnomAD rs759489551, REVEL 0.25, CADD 23.10, Uncertain significance, Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
- N107S (p.Asn107Ser), rs1292834581, ClinGen CA395985442, ClinVar RCV001906834, ClinVar RCV002484417, REVEL 0.22, CADD 22.80, Uncertain significance, Bardet-Biedl syndrome; Retinitis pigmentosa 74; Bardet-Biedl syndrome 2
- S109* (p.Ser109Ter), rs181736797, ClinGen CA395985406, ClinVar RCV001381029, ClinVar RCV003462971, CADD 38.00, Pathogenic
- S109L (p.Ser109Leu), rs181736797, ClinGen CA8066083, cosmic curated COSV55328, ClinVar RCV002954203, REVEL 0.49, CADD 24.00, Uncertain significance, Inborn genetic diseases; Retinal dystrophy; Bardet-Biedl syndrome
- D110G (p.Asp110Gly), ExAC rs760138776, TOPMed rs760138776, gnomAD rs760138776
- F112L (p.Phe112Leu), rs772864503, ClinGen CA8066080, ClinVar RCV000670631, ClinVar RCV002507171, REVEL 0.96, CADD 29.20, Uncertain significance, Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome
- F112S (p.Phe112Ser), Ensembl rs1964674570
- R114S (p.Arg114Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E115* (p.Glu115Ter), rs1964674209, ClinGen CA395985290, ClinVar RCV001264336, Ensembl rs1964674209, Likely pathogenic
- V116L (p.Val116Leu), gnomAD rs1351211010, REVEL 0.57, CADD 23.30, Uncertain significance, Bardet-Biedl syndrome 2
- A117V (p.Ala117Val), TOPMed rs1964569859
- D118V (p.Asp118Val), TOPMed rs1168794394, gnomAD rs1168794394, REVEL 0.91, CADD 28.50, Uncertain significance, Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
- A120T (p.Ala120Thr), rs148808295, ClinGen CA8066063, ClinVar RCV000457908, ClinVar RCV001833591, REVEL 0.64, CADD 25.60, Uncertain significance, Bardet-Biedl syndrome 2; Retinitis pigmentosa 74; Bardet-Biedl syndrome
- A122G (p.Ala122Gly), rs17856449, ClinGen CA395984517, ClinVar RCV002000607, TOPMed rs17856449, AlphaMissense 0.14, MetaLR 0.45, Uncertain significance, Bardet-Biedl syndrome
- A122V (p.Ala122Val), rs17856449, ClinGen CA281484611, ClinVar RCV000671722, ClinVar RCV002485555, AlphaMissense 0.14, MetaLR 0.45, Uncertain significance, Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
- I123L (p.Ile123Leu), 1000Genomes rs11373, ESP rs11373, ExAC rs11373, TOPMed rs11373, Benign
- I123V (p.Ile123Val), rs11373, ClinGen CA8066062, cosmic curated COSV55325, ClinVar RCV000241605, REVEL 0.17, CADD 7.88, Conflicting interpretations, Retinitis pigmentosa 74; Early onset severe obesity; not provided
- V124M (p.Val124Met), gnomAD rs1266818075
- L125P (p.Leu125Pro), rs2144181949, ClinGen CA395984501, NCI-TCGA Cosmic COSV5532, cosmic curated COSV55325, REVEL 0.88, CADD 25.10, Uncertain significance, Bardet-Biedl syndrome 2; Bardet-Biedl syndrome
- L125R (p.Leu125Arg), UniProt VAR 066281, Likely pathogenic, Bardet-Biedl syndrome 2
- T127R (p.Thr127Arg), rs1191790453, ClinGen CA395984489, ClinVar RCV001761291, ClinVar RCV001868542, REVEL 0.28, CADD 9.16, Uncertain significance, Inborn genetic diseases; not provided; Bardet-Biedl syndrome
- L128S (p.Leu128Ser), rs1964568798, ClinGen CA395984484, ClinVar RCV003222510, AlphaMissense 0.51, MetaLR 0.77, Uncertain significance, Bardet-Biedl syndrome
- L128W (p.Leu128Trp), Ensembl rs1964568798, REVEL 0.84, AlphaMissense 0.51, Uncertain significance, Inborn genetic diseases
- G129* (p.Gly129Ter), TOPMed rs1249764192, gnomAD rs1249764192, CADD 36.00
- D130G (p.Asp130Gly), TOPMed rs1964568630, REVEL 0.30, CADD 22.50
- P134R (p.Pro134Arg), rs376306240, ClinGen CA204970, ClinVar RCV000190988, ClinVar RCV000675071, REVEL 0.93, CADD 24.40, Pathogenic/Likely pathogenic, BBS2-related ciliopathy; Retinal dystrophy; Bardet-Biedl syndrome
- P134S (p.Pro134Ser), rs1275057392, ClinGen CA395984445, cosmic curated COSV10455, ClinVar RCV001952587, REVEL 0.67, CADD 24.50, Uncertain significance, Bardet-Biedl syndrome
- L135H (p.Leu135His), rs2144181822, ClinGen CA395984438, ClinVar RCV002250852, Ensembl rs2144181822, AlphaMissense 0.78, MetaLR 0.79, Uncertain significance, Bardet-Biedl syndrome 2
- A136E (p.Ala136Glu), rs373166163, ClinGen CA8066056, ClinVar RCV002596503, ClinVar RCV003889122, REVEL 0.80, CADD 25.10, Uncertain significance, Retinal dystrophy; Bardet-Biedl syndrome
- A136G (p.Ala136Gly), rs373166163, ClinGen CA8066058, ClinVar RCV001990417, ExAC rs373166163, REVEL 0.70, CADD 25.20, Uncertain significance, Bardet-Biedl syndrome
- A136P (p.Ala136Pro), UniProt VAR 066282, Pathogenic, in BBS2
- A136V (p.Ala136Val), cosmic curated COSV10730, ExAC rs373166163, TOPMed rs373166163, gnomAD rs373166163, REVEL 0.35, CADD 20.40, Uncertain significance, Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
- I138S (p.Ile138Ser), rs1386789664, ClinGen CA395984421, ClinVar RCV000761935, ClinVar RCV001199435, AlphaMissense 0.13, MetaLR 0.55, Conflicting interpretations, Retinitis pigmentosa; not provided
- I138T (p.Ile138Thr), gnomAD rs1386789664, REVEL 0.58, AlphaMissense 0.13, Pathogenic
- G139S (p.Gly139Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact., in BBS2
- G139V (p.Gly139Val), rs121908181, ClinGen CA253240, ClinVar RCV000004846, UniProt VAR 075728, AlphaMissense 0.97, MetaLR 0.94, Pathogenic, Bardet-Biedl syndrome 2
- N141I (p.Asn141Ile), rs144680278, ClinGen CA395984404, ClinVar RCV003889734, 1000Genomes rs144680278, REVEL 0.82, CADD 25.90, Uncertain significance, Retinal dystrophy
- N141S (p.Asn141Ser), rs144680278, ClinGen CA8066054, ClinVar RCV001239677, ClinVar RCV001559167, REVEL 0.65, CADD 21.70, Uncertain significance, Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; not provided
- C142Y (p.Cys142Tyr), rs1348932407, ClinGen CA395984398, ClinVar RCV001943348, ClinVar RCV005016826, REVEL 0.87, CADD 23.80, Uncertain significance, Bardet-Biedl syndrome 2; Retinitis pigmentosa 74; Bardet-Biedl syndrome
Public BBS2 analysis runs
- BBS2 analysis run — BBS2 (1,104 variants) — completed 2026-08-22