ClinVar Miner

Variants studied for Bardet-Biedl syndrome

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
899 238 2511 3207 228 3 7017

Gene and significance breakdown #

Total genes and gene combinations: 63
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BBS2 116 42 250 480 26 0 904
BBS9 74 17 286 445 40 0 859
BBS10 148 18 250 300 11 0 712
BBS12 118 11 215 272 24 0 630
BBS4 80 27 185 282 38 1 606
BBS7 60 15 195 258 19 0 545
ASTN2, TRIM32 45 3 262 224 6 0 539
WDPCP 26 11 271 193 16 0 516
BBS1, ZDHHC24 70 27 154 266 9 1 515
BBS1 72 14 85 205 7 1 379
TTC8 19 9 199 127 11 0 363
BBS5 30 11 93 133 12 0 279
BBS5, LOC129935068 5 1 9 12 1 0 28
MKKS 13 4 5 0 3 0 24
ARL6 6 5 1 1 1 0 14
BBS7, LOC129993036 0 0 4 7 0 0 11
CEP290 0 0 7 0 3 0 10
SDCCAG8 3 6 1 0 0 0 10
MKS1 0 2 4 0 0 0 6
ALMS1 1 3 1 0 0 0 5
NPHP4 0 0 5 0 0 0 5
AKT3, SDCCAG8 0 0 4 0 0 0 4
LOC128706665, LOC128706666, MKKS 0 0 2 1 1 0 4
BBS9, RP9 1 0 2 0 0 0 3
IFT172 0 2 1 0 0 0 3
CACNG2-DT, IFT27 1 0 1 0 0 0 2
CEP290, RLIG1 0 0 1 1 0 0 2
IFT172, LOC126806173 0 1 1 0 0 0 2
RPGRIP1 0 0 2 0 0 0 2
WDR19 0 0 2 0 0 0 2
ABCB11, BBS5, DHRS9, LRP2 0 0 1 0 0 0 1
ADGRG1, ADGRG3, ADGRG5, AMFR, ARL2BP, BBS2, CCDC102A, CCDC113, CCL17, CCL22, CETP, CFAP20, CIAPIN1, CNGB1, CNOT1, COQ9, CPNE2, CSNK2A2, CX3CL1, DOK4, DRC7, GINS3, GNAO1, GOT2, HERPUD1, KATNB1, KIFC3, MIR138-2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, NDRG4, NLRC5, NUDT21, NUP93, OGFOD1, PLLP, POLR2C, PRSS54, PSME3IP1, RSPRY1, SETD6, SLC12A3, SLC38A7, SPMIP8, USB1, ZNF319 1 0 0 0 0 0 1
ADPGK, ARID3B, BBS4, CCDC33, CD276, CLK3, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, GOLGA6A, HCN4, INSYN1, ISLR, ISLR2, LMAN1L, LOXL1, MPI, NEO1, NPTN, PML, REC114, SCAMP2, SEMA7A, STOML1, STRA6, TBC1D21, UBL7, ULK3 0 0 1 0 0 0 1
AP5B1, ARL2, ATG2A, B4GAT1, BANF1, BATF2, BBS1, BRMS1, C11orf68, CAPN1, CATSPER1, CCDC85B, CD248, CDC42BPG, CDC42EP2, CDCA5, CFL1, CNIH2, CST6, CTSW, DPF2, DPP3, DRAP1, EFEMP2, EHBP1L1, EHD1, EIF1AD, FAM89B, FAU, FIBP, FOSL1, FRMD8, GAL3ST3, GPHA2, KAT5, KCNK7, KLC2, LTBP3, MAJIN, MALAT1, MAP3K11, MAP4K2, MEN1, MIR192, MIR194-2, MRPL11, MRPL49, MUS81, NAALADL1, NEAT1, NPAS4, OVOL1, PACS1, PCNX3, PELI3, POLA2, PPP2R5B, PYGM, RAB1B, RELA, RIN1, RNASEH2C, SAC3D1, SART1, SCYL1, SF1, SF3B2, SIPA1, SLC25A45, SLC29A2, SNX15, SNX32, SPDYC, SYVN1, TIGD3, TM7SF2, TMEM151A, TSGA10IP, VPS51, YIF1A, ZFPL1, ZNHIT2, ZNRD2 1 0 0 0 0 0 1
ARL6, CRYBG3, LOC129937104 0 1 0 0 0 0 1
ARL6IP6, LOC129934936 0 1 0 0 0 0 1
BBS1, DPP3, LOC130006125, ZDHHC24 0 1 0 0 0 0 1
BBS10, OSBPL8 1 0 0 0 0 0 1
BBS5, KLHL41 0 0 1 0 0 0 1
BBS5, LOC129388940 0 1 0 0 0 0 1
BBS5, LOC129935067, LOC129935068 1 0 0 0 0 0 1
BBS9, NT5C3A, RP9 1 0 0 0 0 0 1
CCDC28B 0 0 1 0 0 0 1
CEP19 1 0 0 0 0 0 1
COMT 1 0 0 0 0 0 1
EHBP1, MDH1, OTX1, PELI1, UGP2, VPS54, WDPCP 0 0 1 0 0 0 1
EML5, LOC129390658, LOC130056226, LOC130056227, LOC130056228, LOC130056229, LOC130056230, LOC130056231, LOC130056232, LOC130056233, LOC130056234, PTPN21, SPATA7, TTC8, ZC3H14 0 0 1 0 0 0 1
GLI1 0 0 1 0 0 0 1
GLI2 0 0 1 0 0 0 1
HTR2B, PSMD1 0 0 1 0 0 0 1
IFT27 1 0 0 0 0 0 1
IFT74 0 1 0 0 0 0 1
IQCB1 0 1 0 0 0 0 1
KCNAB2, NPHP4 0 1 0 0 0 0 1
LOC130061278, TSPOAP1 0 0 1 0 0 0 1
LZTFL1 1 0 0 0 0 0 1
NPHP1 1 0 0 0 0 0 1
NPHP3, NPHP3-ACAD11 0 0 1 0 0 0 1
PHLDB1 0 0 1 0 0 0 1
RPGRIP1L 0 1 0 0 0 0 1
TRAPPC3 0 1 0 0 0 0 1
TSPOAP1 1 0 0 0 0 0 1
USH2A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 787 139 2424 3198 206 0 6754
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 57 46 0 1 1 0 105
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 42 17 37 0 0 0 96
Illumina Laboratory Services, Illumina 0 0 43 7 7 0 57
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 53 0 0 0 0 0 53
GeneReviews 9 0 0 0 16 0 25
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 1 15 0 0 0 0 16
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 10 3 0 0 0 0 13
Sharon lab, Hadassah-Hebrew University Medical Center 9 4 0 0 0 0 13
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 6 3 3 0 0 0 12
Molecular Genetics Laboratory, Institute for Ophthalmic Research 8 0 0 0 0 0 8
Sydney Genome Diagnostics, Children's Hospital Westmead 2 4 2 0 0 0 8
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 3 1 0 0 0 7
Counsyl 0 5 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 3 0 0 0 0 4
Tolun Lab, Human Genetics Laboratory, Bogazici University 1 0 3 0 0 0 4
Clinical Genomics Laboratory, IWK Health Center 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
OMIM 1 0 0 0 0 0 1
Natera, Inc. 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1 0 0 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 0 0 1 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1

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