ClinVar Miner

Variants studied for Mucopolysaccharidosis, MPS-II

Coded as:
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 not provided total
212 97 126 305 68 13 5 767

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 112 49 70 136 26 6 3 368
IDS, LOC106050102 91 48 51 145 38 7 2 358
IDS, LOC130068781 7 0 3 24 4 0 0 37
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: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 79 20 100 291 66 0 0 556
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
Revvity Omics, Revvity 10 14 13 0 0 0 0 37
Genome-Nilou Lab 20 6 3 4 3 0 0 36
IIFP, CONICET-UNLP 31 0 0 0 1 0 0 32
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 12 2 2 0 0 0 0 16
Natera, Inc. 0 0 0 11 3 0 0 14
OMIM 13 0 0 0 0 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 5 0 0 0 0 0 12
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 2 6 3 0 0 0 0 11
MOLECULAR BIOLOGY LABORATORY, INSTITUTO NACIONAL DE PEDIATRIA 7 3 0 0 0 0 0 10
Myriad Genetics, Inc. 0 9 0 0 0 0 0 9
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 2 0 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 2 2 3 0 0 0 0 7
MGZ Medical Genetics Center 3 1 1 0 0 0 0 5
Mendelics 2 1 1 0 1 0 0 5
GeneReviews 0 0 0 0 0 0 4 4
Fulgent Genetics, Fulgent Genetics 0 0 0 4 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 1 0 0 0 0 4
Baylor Genetics 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
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 1 0 0 0 0 0 3
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 2 1 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 2 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic 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
Counsyl 1 0 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 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
New York Genome Center 0 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 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
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 0 1
DASA 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

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