ClinVar Miner

Variants studied for Mucopolysaccharidosis, MPS-II

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
587 351 191 326 69 13 5 1361

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
IDS 293 186 100 149 26 6 3 667
IDS, LOC106050102 270 164 85 153 39 7 2 637
IDS, LOC130068781 22 1 4 24 4 0 0 53
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 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 1
IDS, LOC106050102, LOC130068781 1 0 0 0 0 0 0 1
IDUA 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 482 273 13 0 0 0 0 768
Labcorp Genetics (formerly Invitae), Labcorp 96 22 134 309 66 0 0 627
Revvity Omics, Revvity 10 19 45 0 0 0 0 74
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 38 15 2 0 0 0 0 55
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 44 0 0 0 0 0 0 44
Genome-Nilou Lab 20 6 3 4 3 0 0 36
IIFP, CONICET-UNLP 31 0 0 0 1 0 0 32
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 11 0 0 0 13 0 24
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 15 6 2 0 0 0 0 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 8 0 0 0 0 0 21
Natera, Inc. 0 0 0 11 3 0 0 14
OMIM 13 0 0 0 0 0 0 13
Fulgent Genetics, Fulgent Genetics 0 7 0 4 0 0 0 11
Myriad Genetics, Inc. 1 10 0 0 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 3 3 5 0 0 0 0 11
MOLECULAR BIOLOGY LABORATORY, INSTITUTO NACIONAL DE PEDIATRIA 7 3 0 0 0 0 0 10
3billion 2 2 2 1 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 2 0 0 0 0 0 7
MGZ Medical Genetics Center 3 1 1 0 0 0 0 5
Mendelics 2 1 0 1 1 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 1 0 0 0 0 5
GeneReviews 0 0 0 0 0 0 4 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 1 0 0 0 0 4
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 2 2 0 0 0 0 0 4
Baylor Genetics 0 1 2 0 0 0 0 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 1 0 0 0 0 0 3
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 1 2 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 1 0 0 0 3
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 2 1 0 0 0 0 0 3
Chaochun Lab, Department of Endocrinology, Children's Hospital, Zhejiang University School Of Medicine 1 1 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 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 2
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 1 0 0 0 1 0 0 2
Variantyx, Inc. 0 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 0 1
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 0 0 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 0 1
Counsyl 1 0 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Gansu Provincial Maternity and Child Care Hospital 1 0 0 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1
Molecular Genetic Laboratory, Kuwait Medical Genetic Center 0 0 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 1 0 0 0 0 0 1

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