ClinVar Miner

Variants studied for Zellweger spectrum disorders

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
826 610 3652 4026 347 12 8933

Gene and significance breakdown #

Total genes and gene combinations: 46
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PEX6 152 103 545 836 37 3 1594
PEX1 143 144 372 548 42 2 1144
PEX5 41 19 409 433 29 0 904
PEX10 94 74 287 319 20 1 726
PEX7 63 44 165 285 24 0 559
PEX16 23 14 205 307 20 1 552
PEX26 35 25 254 191 40 0 520
PEX12 84 48 211 161 13 0 476
PEX2 54 40 226 146 23 1 460
PEX13 27 4 270 153 15 0 458
GATAD1, PEX1 55 54 149 233 16 3 454
PEX14 6 4 194 191 27 0 401
PEX19 9 10 210 147 24 0 384
PEX3 6 8 45 4 8 1 71
PEX13, PUS10 4 1 32 27 0 0 64
LOC129998796, PEX1 13 8 18 21 1 0 54
LOC126805616, PEX14 1 0 15 18 4 0 35
PEX10, RER1 0 0 20 2 1 0 23
PEX11B 5 6 3 1 0 0 13
LOC130066940, PEX26 2 3 3 3 0 0 9
LOC113788293, PEX2 0 0 5 0 0 0 5
GNMT, PEX6 1 1 0 0 1 0 3
A2ML1, ACSM4, AICDA, APOBEC1, ATN1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, ENO2, FAM90A1, FOXJ2, GDF3, LPCAT3, LRRC23, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, SPSB2, TPI1, ZNF705A 0 0 1 0 0 0 1
A2ML1, ACSM4, AICDA, APOBEC1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, FAM90A1, FOXJ2, GDF3, LPCAT3, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, ZNF705A 1 0 0 0 0 0 1
ABCC10, BICRAL, BYSL, C6orf132, CCND3, CNPY3, CRIP3, CUL7, CUL9, DLK2, DNPH1, FOXP4, FRS3, GNMT, GTPBP2, GUCA1A, GUCA1B, KLC4, KLHDC3, LRRC73, MAD2L1BP, MDFI, MEA1, MED20, MRPL2, MRPS10, MRPS18A, NCR2, PEX39, PEX6, PGC, POLH, POLR1C, PPP2R5D, PRICKLE4, PRPH2, PTCRA, PTK7, RPL7L1, RRP36, RSPH9, SLC22A7, SRF, TAF8, TBCC, TFEB, TJAP1, TOMM6, TREM1, TREM2, TREML2, TREML4, TRERF1, TTBK1, UBR2, USP49, VEGFA, XPO5, YIPF3, ZNF318 1 0 0 0 0 0 1
ABCD1 0 0 1 0 0 0 1
ACAP3, ACTRT2, AGRN, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 1 0 0 0 0 0 1
ACRBP, ATN1, C12orf57, C1R, C1RL, C1S, CD27, CD4, CDCA3, CHD4, CLSTN3, COPS7A, EMG1, ENO2, GAPDH, GNB3, GPR162, IFFO1, ING4, LAG3, LPAR5, LPCAT3, LRRC23, LTBR, MIR141, MIR200C, MLF2, MRPL51, NCAPD2, NOP2, P3H3, PEX5, PHB2, PIANP, PTMS, PTPN6, RBP5, SCNN1A, SPSB2, TAPBPL, TNFRSF1A, TPI1, USP5, VAMP1, ZNF384 0 0 1 0 0 0 1
AHI1, BCLAF1, IFNGR1, IL20RA, IL22RA2, LINC02539, MAP3K5, MAP7, MTFR2, OLIG3, PDE7B, PEX7, SLC35D3, TNFAIP3 1 0 0 0 0 0 1
AP2B1, FNDC8, GAS2L2, NLE1, PEX12, RAD51D, RASL10B, SLC35G3, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, UNC45B 1 0 0 0 0 0 1
AP2B1, GAS2L2, PEX12, RASL10B, SLC35G3, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, UNC45B 0 0 1 0 0 0 1
ATP1A2, ATP1A4, CASQ1, COPA, DCAF8, DCAF8-DT, NCSTN, PEA15, PEX19 0 0 1 0 0 0 1
C1orf127, CASZ1, MASP2, PEX14, TARDBP 0 0 1 0 0 0 1
C2orf74, FAM161A, PEX13, SANBR, USP34, XPO1 0 0 1 0 0 0 1
CALML6, CFAP74, FAAP20, GABRD, GNB1, MORN1, PEX10, PRKCZ, RER1, SKI, TMEM52 0 0 1 0 0 0 1
CNPY3, GNMT, PEX6, PPP2R5D, PTCRA 0 0 1 0 0 0 1
CREB3L1, CRY2, DGKZ, FREY1, LARGE2, MAPK8IP1, PEX16, PHF21A, SLC35C1 1 0 0 0 0 0 1
CRY2, FREY1, MAPK8IP1, PEX16, SLC35C1 0 0 1 0 0 0 1
GNMT, PEX6, PPP2R5D 0 0 1 0 0 0 1
LOC129933826, LOC129933827, LOC129933828, PEX13, PUS10, SANBR 1 0 0 0 0 0 1
LOC129998796, PEX1, RBM48 0 0 0 0 1 0 1
LOC130066939, PEX26 0 0 0 0 1 0 1
MICAL3, PEX26 0 0 1 0 0 0 1
MMUT 0 0 1 0 0 0 1
PAF1, SAMD4B 0 0 1 0 0 0 1
PEX26, TUBA8 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 84
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 735 147 2814 3911 225 0 7832
Illumina Laboratory Services, Illumina 5 4 764 81 161 0 1015
Natera, Inc. 38 16 277 71 58 0 460
Counsyl 18 168 85 4 0 0 275
Baylor Genetics 78 160 21 0 0 0 256
Fulgent Genetics, Fulgent Genetics 18 12 77 14 4 0 125
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 74 46 0 0 0 0 120
Myriad Genetics, Inc. 5 77 1 0 0 0 83
OMIM 77 0 0 0 0 0 77
Genome-Nilou Lab 0 5 17 6 41 0 69
Neuberg Centre For Genomic Medicine, NCGM 0 10 12 0 0 0 21
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 1 6 0 0 0 20
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 10 7 3 0 0 0 20
Mendelics 5 2 0 1 8 0 16
Elsea Laboratory, Baylor College of Medicine 4 0 10 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 2 4 0 0 0 12
Johns Hopkins Genomics, Johns Hopkins University 5 4 1 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 4 0 0 0 0 9
3billion 1 4 2 2 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 4 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 2 6 0 0 0 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 1 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 5 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 5
Wangler Lab, Baylor College of Medicine 0 5 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 2 0 1 0 5
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 5 0 0 0 5
Revvity Omics, Revvity 0 2 2 0 0 0 4
Centogene AG - the Rare Disease Company 2 1 1 0 0 0 4
GeneReviews 0 0 0 0 0 4 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 1 0 0 0 4
Undiagnosed Diseases Network, NIH 2 2 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 0 3
MGZ Medical Genetics Center 1 0 2 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 1 1 0 0 1 0 3
Pars Genome Lab 0 0 2 1 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 1 0 0 0 0 2
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 2 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 1 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Ege University Pediatric Genetics, Ege University 1 0 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 1 0 0 0 0 2
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 2 0 0 0 0 0 2
Department of Genetics, Suzhou Beikang Medical Laboratory 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Next Generation Genetic Polyclinic 0 1 0 0 0 0 1

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