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
930 244 2514 3207 228 3 7058

Gene and significance breakdown #

Total genes and gene combinations: 64
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BBS2 117 43 250 480 26 0 906
BBS9 80 20 286 445 40 0 868
BBS10 149 18 250 300 11 0 713
BBS12 119 11 215 272 24 0 631
BBS4 88 27 185 282 38 1 614
BBS7 67 16 195 258 19 0 553
ASTN2, TRIM32 46 3 263 224 6 0 541
WDPCP 26 11 271 193 16 0 516
BBS1, ZDHHC24 70 27 154 266 9 1 515
BBS1 75 14 85 205 7 1 383
TTC8 20 9 200 127 11 0 365
BBS5 31 12 94 133 12 0 282
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, CCL17, CCL22, CETP, CFAP20, CFAP263, 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
BBS7, TRPC3 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: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 819 145 2427 3198 206 0 6795
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
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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