ClinVar Miner

Variants studied for glycoproteinosis

Included ClinVar conditions (23):
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
827 666 1839 3440 282 114 6543

Gene and significance breakdown #

Total genes and gene combinations: 47
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MAN2B1 160 194 403 822 54 6 1481
GNPTAB 245 183 328 736 59 84 1463
MCOLN1 71 53 147 543 25 8 768
MANBA 66 32 181 306 39 1 596
AGA 61 72 156 232 29 0 486
CTSA 44 18 132 270 19 0 466
FUCA1 57 18 108 141 12 0 320
GNPTG 27 34 109 26 6 14 184
NAGA 20 8 51 89 16 0 177
LOC126863160, NAGA 10 5 29 104 4 1 143
NEU1 28 12 32 3 5 0 75
LOC129391064, MAN2B1 7 11 15 27 1 0 54
LOC129992886, MANBA 2 1 19 34 0 0 54
LOC130063650, MAN2B1 5 4 26 23 0 0 52
FUCA1, LOC126805661 6 1 21 26 2 0 51
GNPTG, LOC130058158 0 4 33 7 0 0 39
LOC130063648, MAN2B1 2 4 12 17 0 0 34
LOC130063376, MCOLN1 3 2 4 9 1 0 16
CTSA, LOC130065974 2 0 6 7 0 0 13
FUCA1, LOC129929685 0 0 6 6 2 0 13
MCOLN1, PNPLA6 0 0 1 7 2 0 8
AGA, AGA-DT 2 6 1 0 0 0 7
CTSA, NEURL2 0 0 5 2 0 0 7
GNPTG, UNKL 0 0 4 0 1 0 5
LOC130067582, NAGA 0 0 3 1 0 0 4
GNPTAB, LOC130008555 0 0 1 0 2 0 3
CTSA, PLTP 0 0 2 0 0 0 2
MAN2B1, WDR83, WDR83OS 2 0 0 0 0 0 2
NAGA, WBP2NL 0 0 0 1 1 0 2
​intergenic 1 0 0 0 0 0 1
ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, KLF1, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, RGL3, RNASEH2A, RTBDN, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 0 0 1 0 0 0 1
ADAMTS10, ANGPTL4, CAMSAP3, CCL25, CD209, CD320, CERS4, CLEC4G, CLEC4M, CTXN1, ELAVL1, EVI5L, FBN3, FCER2, HNRNPM, KANK3, LRRC8E, MAP2K7, MARCHF2, MCEMP1, MCOLN1, MYO1F, NDUFA7, PCP2, PET100, PNPLA6, PRAM1, RAB11B, RETN, RPS28, SNAPC2, STXBP2, TGFBR3L, TIMM44, TRAPPC5, XAB2, ZNF414 0 0 1 0 0 0 1
ADGRE1, ALKBH7, ARHGEF18, C3, CAMSAP3, CCL25, CD209, CD70, CLEC4G, CLEC4M, CLPP, CRB3, CTXN1, DENND1C, ELAVL1, EVI5L, FBN3, FCER2, GPR108, GTF2F1, INSR, KHSRP, LRRC8E, MAP2K7, MBD3L2, MBD3L3, MBD3L4, MBD3L5, MCEMP1, MCOLN1, PCP2, PET100, PEX11G, PNPLA6, PSPN, RETN, SAXO5, SH2D3A, SLC25A23, SLC25A41, SNAPC2, STXBP2, TGFBR3L, TIMM44, TNFSF14, TNFSF9, TRAPPC5, TRIP10, TUBB4A, VAV1, XAB2, ZNF358, ZNF557 1 0 0 0 0 0 1
ADGRV1 0 0 1 0 0 0 1
ARHGEF18, CAMSAP3, MCOLN1, PCP2, PET100, PEX11G, PNPLA6, SAXO5, STXBP2, XAB2, ZNF358 1 0 0 0 0 0 1
BANK1, BDH2, CENPE, CISD2, MANBA, NFKB1, PPP3CA, SLC39A8, SLC9B1, SLC9B2, TACR3, UBE2D3 1 0 0 0 0 0 1
CD40, CTSA, MMP9, NCOA5, PCIF1, PLTP, SLC12A5, ZNF335 1 0 0 0 0 0 1
CDH23 0 0 1 0 0 0 1
CTSA, NEURL2, SPATA25 0 0 0 0 1 0 1
DCX 0 1 0 0 0 0 1
DIAPH1 0 0 0 1 0 0 1
FAH 0 1 0 0 0 0 1
GNPTAB, LOC124646390 0 0 0 0 1 0 1
LOC130063648, LOC130063649, MAN2B1 0 1 0 0 0 0 1
MAN2B1, ZNF564 1 0 0 0 0 0 1
NEU1, SLC44A4 1 0 0 0 0 0 1
SGCB 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 112
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 631 159 1093 3308 201 0 5392
Illumina Laboratory Services, Illumina 7 3 483 66 101 0 660
Natera, Inc. 57 16 260 112 65 0 510
Counsyl 25 136 74 5 0 0 240
Genome-Nilou Lab 62 13 49 52 52 0 228
Baylor Genetics 54 119 14 0 0 0 187
GeneReviews 41 0 0 0 0 111 149
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 86 58 0 0 0 0 144
Myriad Genetics, Inc. 6 135 1 0 0 0 142
Fulgent Genetics, Fulgent Genetics 16 19 46 16 4 0 101
OMIM 96 0 0 0 0 0 96
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 40 0 0 1 41
Revvity Omics, Revvity 14 11 15 0 0 0 40
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 2 31 1 1 0 0 35
PreventionGenetics, part of Exact Sciences 1 2 1 17 1 0 22
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 11 6 5 0 0 0 22
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 21 0 0 0 0 21
Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center 15 5 0 0 0 0 20
3billion 9 2 3 3 0 0 17
Neuberg Centre For Genomic Medicine, NCGM 4 4 9 0 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 2 2 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 6 0 0 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 8 2 0 0 0 0 10
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 3 3 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 6 0 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 4 0 0 0 0 9
Centogene AG - the Rare Disease Company 3 4 0 0 0 0 7
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 7 0 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 3 0 0 0 7
MGZ Medical Genetics Center 3 2 1 0 0 0 6
Mendelics 2 2 0 1 1 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 5 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 1 2 0 5
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 4 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 3 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 2 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 0 2 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 4 0 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 2 0 0 0 4
Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir 4 0 0 0 0 0 4
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 1 2 1 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 0 0 0 0 3
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 2 1 0 0 0 0 3
Suma Genomics 3 0 0 0 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
MyeliNeuroGene Lab, McGill University Health Center Research Institute 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 1 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Genomic Medicine Lab, University of Southampton 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 1 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 1 0 0 0 0 2
New York Genome Center 1 0 1 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Laboratory of Genomics, National Research Institute of Animal Production 0 1 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Pediatric Genetics, Postgraduate Institute of Medical Education and Research, Chandigarh (PGIMER) 0 1 0 0 0 0 1
Biochemistry And Molecular Medicine, Center For Genetics And Inherited Diseases, Taibah University 1 0 0 0 0 0 1
Centre de Recherche et de Formation en Génétique Médicale et en Neurosciences, Université des Sciences, des Techniques et des Technologies de Bamako 0 0 1 0 0 0 1

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