ClinVar Miner

Variants studied for Zellweger spectrum disorders

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
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Gene type:
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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
802 557 3645 4024 347 12 8868

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PEX6 146 98 543 836 37 3 1587
PEX1 138 142 371 548 42 2 1136
PEX5 41 18 409 433 29 0 904
PEX10 89 66 287 319 20 1 717
PEX16 23 13 204 307 20 1 551
PEX7 60 33 165 285 24 0 546
PEX26 35 20 254 191 40 0 516
PEX12 84 44 211 161 13 0 473
PEX13 27 3 268 153 15 0 456
PEX2 54 32 226 146 23 1 455
GATAD1, PEX1 55 54 149 232 16 3 454
PEX14 5 4 194 191 27 0 400
PEX19 9 7 210 147 24 0 382
PEX3 6 6 45 4 8 1 69
PEX13, PUS10 3 1 32 27 0 0 63
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 4 3 0 0 0 10
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
ABCC10, BICRAL, BYSL, C6orf132, C6orf226, CCND3, CNPY3, CRIP3, CUL7, CUL9, DLK2, DNPH1, FOXP4, FRS3, GNMT, GTPBP2, GUCA1A, GUCA1B, KLC4, KLHDC3, LRRC73, MAD2L1BP, MDFI, MEA1, MED20, MRPL2, MRPS10, MRPS18A, NCR2, 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
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
PEX26, TUBA8 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 718 144 2814 3911 225 0 7812
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 72 125 21 0 0 0 215
Fulgent Genetics, Fulgent Genetics 18 12 77 14 4 0 125
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 65 42 0 0 0 0 107
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
Mendelics 5 2 0 1 8 0 16
Elsea Laboratory, Baylor College of Medicine 4 0 10 0 0 0 14
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 7 6 0 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 2 4 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 5 0 0 0 11
Johns Hopkins Genomics, Johns Hopkins University 5 4 1 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 4 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 3 2 0 0 0 8
3billion 1 4 2 0 0 0 7
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 5 1 0 0 0 0 6
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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 3 0 0 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
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
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
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 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
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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 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

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