ClinVar Miner

Variants studied for mucopolysaccharidosis

Included ClinVar conditions (24):
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 affects association not found other not provided total
2042 1624 3226 5073 429 13 2 5 54 11159

Gene and significance breakdown #

Total genes and gene combinations: 52
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association not found other not provided total
IDUA 200 184 319 721 45 0 0 2 14 1324
HGSNAT 103 82 363 519 36 0 0 0 4 1034
NAGLU 151 140 354 473 20 0 0 0 9 1032
GALNS 217 230 370 363 42 0 1 0 9 1022
SGSH 131 143 365 463 39 0 0 0 4 996
GLB1 182 144 211 467 30 0 0 0 2 929
GNS 59 24 237 418 31 0 0 0 0 740
ARSB 120 137 249 245 36 0 0 0 0 692
IDS 288 180 84 149 26 6 0 0 3 643
IDS, LOC106050102 267 160 65 165 39 7 0 0 2 618
GUSB 60 53 164 335 24 0 0 1 0 593
HYAL1 41 9 116 195 15 0 0 0 0 357
IDUA, SLC26A1 42 24 71 119 12 0 0 2 4 248
ARSB, LOC129994126 46 49 57 105 5 0 0 0 0 224
LOC130060903, NAGLU 34 23 72 93 0 0 0 0 0 209
HGSNAT, LOC130000316 7 6 28 73 3 0 0 0 0 111
GALNS, LOC130059762, TRAPPC2L 20 11 32 42 2 0 0 0 1 94
GALNS, LOC126862447 14 11 22 33 6 0 1 0 0 74
IDS, LOC130068781 22 0 4 25 4 0 0 0 0 53
GLB1, LOC129936434, TMPPE 5 3 12 30 3 0 0 0 0 52
GUSB, LOC126860055 4 6 6 22 2 0 0 0 0 37
LOC130061900, SGSH 5 3 7 9 0 0 0 0 0 20
APRT, GALNS 0 0 1 8 9 0 0 0 0 15
GNPTAB 6 0 0 0 0 0 0 0 0 6
ARSK 3 0 1 0 0 0 0 0 0 4
HGSNAT, POMK 1 0 2 0 0 0 0 0 0 3
APRT, CDT1, GALNS, LOC126862447, LOC130059753, LOC130059754, LOC130059755, LOC130059756, LOC130059757, LOC130059758, LOC130059759, LOC130059760, PIEZO1 1 1 0 0 0 0 0 0 0 2
APRT, CDT1, GALNS, PIEZO1 1 0 1 0 0 0 0 0 0 2
GALNS, LOC126862447, LOC130059761, LOC130059762, LOC132090440, TRAPPC2L 2 0 0 0 0 0 0 0 0 2
GLB1, LOC129936434 0 0 2 0 0 0 0 0 0 2
LOC130060902, NAGLU 0 0 2 0 0 0 0 0 0 2
AFF2, CD99L2, CXorf51A, CXorf51B, EOLA1, EOLA1-DT, EOLA2, EOLA2-DT, FMR1, FMR1NB, FRAXA, FRAXE, HMGB3, HSFX1, HSFX2, HSFX3, HSFX4, IDS, LINC00850, LINC02927, LOC106050102, LOC106050103, LOC107032825, LOC107048982, LOC107048984, LOC109396974, LOC121627983, LOC122319696, LOC125467790, LOC126863338, LOC126863339, LOC126863340, LOC126863341, LOC126863342, LOC129929048, LOC129929049, LOC129929053, LOC130068774, LOC130068775, LOC130068776, LOC130068777, LOC130068778, LOC130068779, LOC130068780, LOC130068781, LOC130068782, LOC130068783, LOC130068784, LOC130068785, LOC130068786, LOC130068787, LOC130068788, LOC130068789, LOC130068790, LOC130068791, LOC130068792, LOC130068793, LOC130068794, LOC130068795, LOC130068796, LOC130068797, LOC130068798, LOC130068799, LOC130068800, LOC130068801, LOC130068802, LOC130068803, LOC130068804, LOC130068805, LOC130068806, MAGEA11, MAGEA8, MAGEA9, MAGEA9B, MAMLD1, MIR2114, MIR4330, MIR506, MIR507, MIR508, MIR509-1, MIR509-2, MIR509-3, MIR510, MIR513A1, MIR513A2, MIR513B, MIR513C, MIR514A1, MIR514A2, MIR514A3, MIR514B, MIR888, MIR890, MIR891A, MIR891B, MIR892A, MIR892B, MIR892C, MTM1, MTMR1, SLITRK2, SPANXN1, TMEM185A 1 0 0 0 0 0 0 0 0 1
AFF2, CXorf51A, CXorf51B, EOLA1, EOLA1-DT, FMR1, FMR1NB, FRAXA, FRAXE, HSFX2, HSFX3, IDS, LOC106050102, LOC106050103, LOC107032825, LOC107048982, LOC107048984, LOC109396974, LOC121627983, LOC122319696, LOC125467790, LOC126863337, LOC126863338, LOC126863339, LOC126863340, LOC126863341, LOC126863342, LOC129929048, LOC129929049, LOC129929053, LOC130068774, LOC130068775, LOC130068776, LOC130068777, LOC130068778, LOC130068779, LOC130068780, LOC130068781, LOC130068782, LOC130068783, LOC130068784, LOC130068785, LOC130068786, LOC130068787, MAGEA11, MAGEA9B, MIR506, MIR507, MIR508, MIR509-1, MIR509-2, MIR509-3, MIR510, MIR513A1, MIR513A2, MIR513B, MIR513C, MIR514A1, MIR514A2, MIR514A3, MIR514B, MIR888, MIR890, MIR891A, MIR891B, MIR892A, MIR892B, MIR892C, SLITRK2, SLITRK4, SPANXN1, SPANXN2, SPANXN3, TMEM185A, UBE2NL 0 0 1 0 0 0 0 0 0 1
AP3B1, ARSB, LHFPL2, SCAMP1 1 0 0 0 0 0 0 0 0 1
APRT, GALNS, LOC126862447, LOC130059760 1 0 0 0 0 0 0 0 0 1
APRT, GALNS, LOC130059760 0 0 0 1 0 0 0 0 0 1
ARSB, LOC123497917, LOC129994124, LOC129994125 1 0 0 0 0 0 0 0 0 1
ARSB, LOC129994124, LOC129994125 1 0 0 0 0 0 0 0 0 1
ARSK, LOC126807455 0 0 1 0 0 0 0 0 0 1
ASL, GUSB 1 0 0 0 0 0 0 0 0 1
C12orf56, CAND1, DYRK2, GNS, GRIP1, HELB, HMGA2, IRAK3, KICS2, LEMD3, LLPH, MSRB3, RASSF3, RXYLT1, SRGAP1, TBC1D30, TBK1, TMBIM4, WIF1, XPOT 1 0 0 0 0 0 0 0 0 1
CARD14, EIF4A3, RNF213, SGSH, SLC26A11 0 0 1 0 0 0 0 0 0 1
CARD14, SGSH 1 1 0 0 0 0 0 0 1 1
COASY, HSD17B1, MLX, NAGLU, PSMC3IP 0 0 1 0 0 0 0 0 0 1
FNTA, HGSNAT, POMK, POTEA 0 0 1 0 0 0 0 0 0 1
HGSNAT, LOC121740716, LOC130000316, LOC130000317, LOC130000318, LOC130000319, LOC130000320, LOC130000321, POMK 0 0 1 0 0 0 0 0 0 1
HGSNAT, POTEA 0 0 1 0 0 0 0 0 0 1
IDS, LOC106050102, LOC130068781 1 0 0 0 0 0 0 0 0 1
MOK 0 0 1 0 0 0 0 0 0 1
PITX1 0 1 0 0 0 0 0 0 0 1
RNF213, SGSH, SLC26A11 0 0 1 0 0 0 0 0 0 1
SGSH, SLC26A11 1 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 133
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association not found other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1316 409 1982 4887 314 0 0 5 0 8913
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 597 472 361 2 9 0 0 0 0 1441
Illumina Laboratory Services, Illumina 17 6 594 68 151 0 0 0 0 831
Natera, Inc. 105 14 290 144 99 0 0 0 0 652
Fulgent Genetics, Fulgent Genetics 149 277 72 14 3 0 0 0 0 515
Counsyl 58 184 154 38 1 0 0 1 0 436
Genome-Nilou Lab 68 60 137 37 87 0 0 0 0 389
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 217 102 0 0 0 0 0 0 0 319
Baylor Genetics 95 102 17 0 0 0 0 0 0 214
Revvity Omics, Revvity 40 37 72 0 0 0 0 0 0 149
OMIM 133 0 0 0 0 0 0 0 0 133
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 53 35 7 0 0 0 0 0 0 95
Neuberg Centre For Genomic Medicine, NCGM 25 27 32 0 0 0 0 0 0 84
Myriad Genetics, Inc. 9 67 5 0 0 0 0 0 0 81
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 47 9 0 2 0 0 0 0 0 58
GeneReviews 7 0 0 0 0 0 0 0 49 56
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 38 15 2 0 0 0 0 0 0 55
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 7 13 7 8 10 0 0 0 0 45
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 15 14 11 2 1 0 0 0 0 43
Mendelics 14 8 6 4 7 0 0 0 0 39
IIFP, CONICET-UNLP 31 0 0 0 1 0 0 0 0 32
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 19 9 1 1 2 0 0 0 0 32
Genomic Research Center, Shahid Beheshti University of Medical Sciences 19 6 4 1 0 0 0 0 0 30
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 14 12 2 0 0 0 0 0 0 28
3billion, Medical Genetics 10 5 1 10 0 0 0 0 0 26
Pars Genome Lab 0 0 0 3 22 0 0 0 0 25
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 11 0 0 0 13 0 0 0 24
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 9 0 0 1 11 0 0 0 0 21
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 8 1 0 2 9 0 0 0 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 3 7 0 0 0 0 0 0 19
Juno Genomics, Hangzhou Juno Genomics, Inc 5 7 3 0 0 0 0 0 0 15
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 12 3 0 0 0 0 0 0 0 15
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 9 2 2 0 0 0 2 0 0 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 5 0 0 0 0 0 0 0 12
MGZ Medical Genetics Center 6 4 2 0 0 0 0 0 0 12
MOLECULAR BIOLOGY LABORATORY, INSTITUTO NACIONAL DE PEDIATRIA 7 3 0 0 0 0 0 0 0 10
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 6 4 0 0 0 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 4 3 2 0 0 0 0 0 0 9
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 3 1 2 0 3 0 0 0 0 9
New York Genome Center 1 0 8 0 0 0 0 0 0 9
Centogene AG - the Rare Disease Company 6 1 1 0 0 0 0 0 0 8
Medical Molecular Genetics Department, National Research Center 8 0 0 0 0 0 0 0 0 8
Undiagnosed Diseases Network, NIH 6 0 2 0 0 0 0 0 0 8
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 7 0 0 0 0 0 0 0 0 7
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 5 2 0 0 0 0 0 0 0 7
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 5 1 0 0 0 0 0 0 0 6
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 0 3 0 0 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 1 2 0 0 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 2 0 1 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 4 0 0 1 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 2 0 0 0 0 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 0 0 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 3 0 0 0 0 0 0 0 5
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 1 2 0 0 0 0 0 0 5
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 3 1 1 0 0 0 0 0 0 5
Lifecell International Pvt. Ltd 2 3 0 0 0 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 2 0 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 2 0 0 0 0 0 0 0 4
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 2 0 0 0 0 0 0 0 4
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 4 0 0 0 0 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 3 1 0 0 0 0 0 0 0 4
Genomics England Pilot Project, Genomics England 3 1 0 0 0 0 0 0 0 4
MVZ Medizinische Genetik Mainz 1 1 2 0 0 0 0 0 0 4
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 3 0 0 0 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 2 1 0 0 0 0 0 0 0 3
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 2 0 0 0 1 0 0 0 0 3
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 3 0 0 0 0 0 0 0 3
Laboratory of Molecular Genetics, CHU Rennes 3 0 0 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 1 0 0 0 0 0 3
Ege University Pediatric Genetics, Ege University 0 0 3 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 3 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 1 0 0 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 2 0 0 0 0 0 0 0 3
DASA 3 0 0 0 0 0 0 0 0 3
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 2 0 0 0 0 0 0 0 3
Dr.Nikuei Genetic Center 3 0 0 0 0 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 0 0 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 0 0 0 0 0 0 0 2
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 2 0 0 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 2 0 0 0 0 0 0 0 0 2
NxGen MDx 0 2 0 0 0 0 0 0 0 2
Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir 2 0 0 0 0 0 0 0 0 2
Institute of Medical Genetics, Medical University of Vienna 1 1 0 0 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 1 1 0 0 0 0 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 0 2 0 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 0 0 1
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 0 0 0 1
GENETICS INSTITUTE, National university of Colombia 1 0 0 0 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 1 0 0 0 0 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 0 1 0 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 1 0 0 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 0 0 0 1
Center for Medical Genetics, GenVams Trust 1 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, Ahvaz Jundishapur University of Medical Sciences 0 1 0 0 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 0 0 0 1 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 0 0 0 1
Precision Medical Center, Wuhan Children's Hospital 0 1 0 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 1 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 0 0 0 1
Department of Ophthalmology, Southwest Medical University 1 0 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 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 0 0 0 1
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center 0 1 0 0 0 0 0 0 0 1
Laboratorio De Medicina Genomica, Universidad Icesi 0 1 0 0 0 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 0 0 0 0 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 1 0 0 0 0 0 0 0 0 1

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