ClinVar Miner

Variants studied for Bardet-Biedl syndrome

Coded as:
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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
1043 286 2506 3572 223 3 7553

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 129 44 250 507 25 0 944
BBS9 88 28 289 500 41 0 940
BBS10 161 21 251 313 11 0 742
BBS4 100 32 186 329 39 1 680
BBS12 126 16 218 285 24 0 657
BBS7 80 19 197 300 18 0 609
ASTN2, TRIM32 54 2 266 251 6 0 578
WDPCP 27 13 264 239 15 0 557
BBS1, ZDHHC24 76 30 147 291 9 1 542
BBS1 80 16 86 225 7 1 410
TTC8 28 11 201 156 11 0 405
BBS5 38 15 97 154 12 0 315
BBS5, LOC129935068 7 1 9 14 1 0 32
MKKS 16 7 7 0 3 0 32
SDCCAG8 6 7 1 0 0 0 14
ARL6 7 6 1 0 0 0 13
BBS7, LOC129993036 0 0 4 8 0 0 12
ALMS1 3 3 1 0 0 0 7
MKS1 1 2 2 0 0 0 5
NPHP4 0 0 5 0 0 0 5
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
IFT172, LOC126806173 0 1 1 0 0 0 2
IFT57 0 0 2 0 0 0 2
IFT74 1 1 0 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
IMPG2 1 0 0 0 0 0 1
IQCB1 0 1 0 0 0 0 1
KCNAB2, NPHP4 0 1 0 0 0 0 1
LOC128706665, LOC128706666, MKKS 0 0 0 0 1 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
SCLT1 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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 912 165 2453 3570 208 0 7308
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 90 58 0 1 1 0 150
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 42 17 37 0 0 0 96
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
Department of Pathology and Laboratory Medicine, Sinai Health System 8 8 1 0 0 0 17
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 1 15 0 0 0 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 10 3 0 0 0 0 13
Sharon lab, Hadassah-Hebrew University Medical Center 9 4 0 0 0 0 13
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 3 5 4 0 0 0 12
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
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 3 1 0 0 0 0 4
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
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Heon Lab, The Hospital for Sick Children 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
3billion 0 0 1 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Natera, Inc. 0 0 0 0 1 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 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

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