ClinVar Miner

Variants studied for Mucopolysaccharidosis, MPS-IV-A

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 association not found not provided total
223 206 411 406 57 2 10 1120

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not found not provided total
GALNS 190 189 356 338 41 1 9 948
GALNS, LOC130059762, TRAPPC2L 17 7 31 38 2 0 1 88
GALNS, LOC126862447 11 9 22 30 6 1 0 68
APRT, GALNS 0 0 1 0 8 0 0 9
APRT, CDT1, GALNS, LOC126862447, LOC130059753, LOC130059754, LOC130059755, LOC130059756, LOC130059757, LOC130059758, LOC130059759, LOC130059760, PIEZO1 1 1 0 0 0 0 0 2
GALNS, LOC126862447, LOC130059761, LOC130059762, LOC132090440, TRAPPC2L 2 0 0 0 0 0 0 2
APRT, CDT1, GALNS, PIEZO1 0 0 1 0 0 0 0 1
APRT, GALNS, LOC126862447, LOC130059760 1 0 0 0 0 0 0 1
IDUA 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not found not provided total
Invitae 159 53 98 391 41 0 0 742
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 75 106 253 1 4 0 0 439
Genome-Nilou Lab 29 34 26 13 34 0 0 136
Illumina Laboratory Services, Illumina 1 3 61 9 27 0 0 101
Revvity Omics, Revvity 17 10 20 0 0 0 0 47
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 11 14 2 0 0 0 0 27
Fulgent Genetics, Fulgent Genetics 6 5 6 1 2 0 0 20
OMIM 18 0 0 0 0 0 0 18
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 6 5 1 0 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 2 5 5 0 0 0 0 12
GeneReviews 0 0 0 0 0 0 10 10
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 6 4 0 0 0 0 0 10
Mendelics 3 4 0 0 2 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 2 2 0 0 0 0 9
3billion 5 2 1 0 0 0 0 8
Centogene AG - the Rare Disease Company 4 1 1 0 0 0 0 6
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 2 0 1 0 0 2 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 0 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 0 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 2 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 0 2 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 0 3
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
Suma Genomics 0 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 0 1

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