ClinVar Miner

Variants studied for qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan

Included ClinVar conditions (33):
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
381 328 1461 1266 176 5 3438

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POMT1 120 90 337 433 61 0 972
POMT2 77 68 374 444 45 3 968
CRPPA 49 13 151 122 22 0 352
FKRP 41 89 152 22 11 1 286
GMPPB 32 18 124 111 6 0 281
FKTN 22 43 136 20 16 0 223
POMK 20 1 118 77 8 1 222
CRPPA, LOC129998005 6 0 19 7 3 0 35
LOC130056177, POMT2 0 0 13 6 3 0 22
GMPPB, LOC129936764 2 0 6 8 1 0 17
LOC130056175, POMT2 4 5 8 4 0 0 16
CRPPA, LOC129998004 3 0 8 4 0 0 15
CRPPA, LOC129389757 1 0 4 4 0 0 9
LOC130056176, POMT2 0 0 1 4 0 0 5
LARGE1 0 0 3 0 0 0 3
CRPPA, LOC129389758 2 0 0 0 0 0 2
FKRP, LOC130064775, STRN4 1 0 1 0 0 0 2
HGSNAT, POMK 0 0 2 0 0 0 2
ABL1, AIF1L, EXOSC2, FAM78A, FIBCD1, LAMC3, NUP214, PLPP7, POMT1, PRDM12, PRRC2B, QRFP 0 0 1 0 0 0 1
ANKMY2, BZW2, CRPPA, LOC129998004, LOC129998005, LOC129998006, LRRC72, SOSTDC1 1 0 0 0 0 0 1
B4GAT1 0 1 0 0 0 0 1
DAG1 0 0 1 0 0 0 1
FNTA, HOOK3, LOC129389983, LOC130000310, LOC130000311, LOC130000312, LOC130000313, LOC130000314, LOC130000315, MIR4469, POMK, RNF170, THAP1 0 0 1 0 0 0 1
MYH1, MYHAS 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 79
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 250 61 1002 1200 117 0 2630
Illumina Laboratory Services, Illumina 1 0 240 39 47 0 327
Baylor Genetics 74 157 14 1 0 0 246
Fulgent Genetics, Fulgent Genetics 18 13 121 13 3 0 168
Natera, Inc. 9 3 102 9 7 0 130
Counsyl 7 49 34 6 0 0 96
OMIM 87 0 1 0 0 0 88
Genome-Nilou Lab 1 0 10 2 26 0 39
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 2 9 0 0 0 21
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 6 4 0 0 0 16
MGZ Medical Genetics Center 3 7 5 0 0 0 15
Myriad Genetics, Inc. 2 12 0 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 3 0 0 0 0 12
Athena Diagnostics 2 0 0 0 9 0 11
3billion 2 5 4 0 0 0 11
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 4 4 0 0 0 10
New York Genome Center 3 4 3 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 4 0 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 1 1 7 0 0 0 9
Mendelics 1 1 2 0 3 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 2 2 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 5 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 1 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 1 0 1 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 2 2 2 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 1 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 4 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 4
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 1 1 0 0 4
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 2 2 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 2 0 0 0 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 1 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 0 4
Center for Genetic Medicine Research, Children's National Medical Center 0 3 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 1 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 1 0 0 0 3
Phosphorus, Inc. 0 0 1 0 2 0 3
Genomic Medicine Lab, University of California San Francisco 1 1 1 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 1 0 1 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
DASA 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GeniaGeo, Laboratorio Genia 1 0 0 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Institute of Cell Biology and Neurobiology, Charite - Universitaetsmedizin Berlin 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
James R Lupski Laboratory, Baylor College Of Medicine 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Dept. of Pathology and Cell Biology, NewYork-Presbyterian Hospital/Columbia University Irving Medical Center 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 0 1 0 0 0 1

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