ClinVar Miner

Variants studied for oligosaccharidosis

Included ClinVar conditions (16):
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
492 466 1218 2220 185 8 4227

Gene and significance breakdown #

Total genes and gene combinations: 33
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MAN2B1 162 210 406 858 54 6 1531
MANBA 69 46 185 319 39 1 624
AGA 64 85 157 243 29 0 509
CTSA 48 34 132 282 19 0 489
FUCA1 58 30 107 157 12 0 345
NAGA 22 12 51 98 16 0 191
LOC126863160, NAGA 11 8 29 109 4 1 151
NEU1 28 12 32 3 5 0 75
LOC129391064, MAN2B1 7 12 16 30 1 0 59
FUCA1, LOC126805661 6 3 21 28 2 0 55
LOC129992886, MANBA 2 1 19 35 0 0 55
LOC130063650, MAN2B1 5 4 26 23 0 0 52
LOC130063648, MAN2B1 2 4 12 17 0 0 34
FUCA1, LOC129929685 0 1 6 6 2 0 14
CTSA, LOC130065974 2 0 6 7 0 0 13
CTSA, NEURL2 0 0 5 2 0 0 7
LOC130067582, NAGA 0 0 3 1 0 0 4
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
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
ADGRV1 0 0 1 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
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: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 381 118 850 2162 137 0 3648
Illumina Laboratory Services, Illumina 3 2 299 41 73 0 418
Fulgent Genetics, Fulgent Genetics 25 106 38 9 4 0 182
Baylor Genetics 45 114 8 0 0 0 167
Natera, Inc. 20 3 80 32 32 0 167
Genome-Nilou Lab 55 10 21 30 30 0 146
Counsyl 5 75 21 4 0 0 105
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 52 40 0 0 0 0 92
OMIM 63 0 0 0 0 0 63
Myriad Genetics, Inc. 3 52 0 0 0 0 55
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 40 0 0 1 41
Revvity Omics, Revvity 11 9 13 0 0 0 33
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 21 0 0 0 0 21
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 3 4 0 0 0 14
3billion, Medical Genetics 5 1 2 3 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 2 2 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 4 5 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 6 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 5 0 6
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 6 0 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 2 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 4
MGZ Medical Genetics Center 2 1 1 0 0 0 4
Centogene AG - the Rare Disease Company 2 2 0 0 0 0 4
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 4 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 3 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 2 0 3
New York Genome Center 1 1 1 0 0 0 3
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 1 1 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 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
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Mendelics 0 0 0 0 1 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Laboratory of Genomics, National Research Institute of Animal Production 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 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
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1
Solve-RD Consortium 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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