ClinVar Miner

Variants studied for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation

Included ClinVar conditions (23):
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
398 185 2055 1768 200 3 4481

Gene and significance breakdown #

Total genes and gene combinations: 46
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PIGN 124 74 365 523 47 0 1112
PIGG 67 19 423 397 38 1 926
PIGO 62 17 483 341 21 1 895
ST3GAL5 35 14 159 167 11 0 370
MYO19, PIGW 7 3 171 95 7 1 279
PIGA 15 17 131 74 33 0 259
PIGT 18 9 94 97 12 0 222
PIGM 2 1 61 10 9 0 82
LOC129934236, ST3GAL5 6 1 30 31 4 0 71
PIGV 7 3 50 4 7 0 68
PIGL 5 4 36 2 5 0 49
PGAP3 27 12 7 0 2 0 39
PGAP2 9 7 9 0 0 0 25
LOC132090498, PIGN 0 1 0 11 2 0 14
LOC132090497, PIGN 1 1 5 7 0 0 13
PIGG, ZNF721 1 0 8 0 0 0 9
LOC129934233, ST3GAL5 0 0 0 4 1 0 5
MIR6812, PIGT 0 0 0 4 1 0 5
PIGY, PYURF 1 0 3 0 0 0 4
LOC130001694, PIGO 0 0 2 1 0 0 3
PIGN, RELCH, TNFRSF11A 1 0 2 0 0 0 3
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, PIGW, SYNRG, TADA2A 0 0 2 0 0 0 2
ARHGEF39, ARID3C, ATOSB, CA9, CCDC107, CCL19, CCL21, CCL27, CD72, CIMIP2B, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FANCG, GALT, GBA2, IL11RA, MSMP, NPR2, PHF24, PIGO, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, SPATA31F1, SPATA31G1, STOML2, TESK1, TLN1, TPM2, UNC13B, VCP 1 0 1 0 0 0 2
BCL2, HMSD, KDSR, PHLPP1, PIGN, RELCH, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, TNFRSF11A, VPS4B, ZCCHC2 1 0 1 0 0 0 2
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 0 1 0 0 0 0 1
AATF, ACACA, DHRS11, GGNBP2, LHX1, MRM1, MYO19, PIGW 0 0 1 0 0 0 1
ACE2, AP1S2, ASB11, ASB9, BMX, CA5B, CLTRN, FANCB, INE2, MOSPD2, PIGA, PIR, VEGFD, ZRSR2 1 0 0 0 0 0 1
ACE2, AP1S2, BMX, CA5B, CLTRN, INE2, PIGA, PIR, VEGFD, ZRSR2 0 0 1 0 0 0 1
ARHGEF39, ARID3C, ATOSB, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CIMIP2B, CLTA, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FAM221B, FANCG, GALT, GBA2, GLIPR2, GNE, HINT2, HRCT1, IL11RA, MSMP, NPR2, OR13J1, OR2S2, PHF24, PIGO, RECK, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, SPATA31F1, SPATA31G1, STOML2, TESK1, TLN1, TMEM8B, TPM2, UNC13B, VCP 1 0 0 0 0 0 1
ATP5ME, CPLX1, DGKQ, FGFRL1, GAK, IDUA, MYL5, PCGF3, PDE6B, PIGG, SLC26A1, SLC49A3, TMEM175 1 0 0 0 0 0 1
ATP5ME, CPLX1, DGKQ, GAK, IDUA, MYL5, PCGF3, PDE6B, PIGG, SLC26A1, SLC49A3, TMEM175, ZNF721 1 0 0 0 0 0 1
ATXN2, LOC130008791 0 0 1 0 0 0 1
GGNBP2, MYO19, PIGW 0 0 1 0 0 0 1
LOC129934229, LOC129934230, LOC129934231, LOC129934232, LOC129934233, LOC129934234, LOC129934235, LOC129934236, ST3GAL5 0 0 1 0 0 0 1
LOC130060313, PIGL 0 0 1 0 0 0 1
LOC130062624, LOC130062625, LOC130062626, LOC130062627, LOC130062628, LOC130062629, LOC130062630, LOC130062631, LOC132090496, LOC132090497, LOC132090498, LOC132090499, LOC132090500, LOC132090501, LOC132090899, PIGN, RELCH, TNFRSF11A 0 0 1 0 0 0 1
LOC132090496, LOC132090497, LOC132090498, LOC132090499, LOC132090899, PIGN 1 0 0 0 0 0 1
LOC132090496, PIGN 0 1 0 0 0 0 1
PDE6B, PIGG, ZNF721 1 0 0 0 0 0 1
PIGB 0 0 1 0 0 0 1
PIGG, ZNF141, ZNF718, ZNF721, ZNF732 0 0 1 0 0 0 1
PIGW 0 0 1 0 0 0 1
PIGY 1 0 0 0 0 0 1
POLR1A, ST3GAL5 0 0 1 0 0 0 1
SETD5 0 0 1 0 0 0 1
SPTBN1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 91
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 303 81 1799 1747 174 0 4104
Illumina Laboratory Services, Illumina 6 2 152 16 27 0 203
Baylor Genetics 12 12 58 0 0 0 82
OMIM 72 0 0 0 0 0 72
Fulgent Genetics, Fulgent Genetics 10 19 17 7 2 0 55
Revvity Omics, Revvity 9 11 18 0 0 0 38
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 4 17 0 0 0 28
Genome-Nilou Lab 0 0 0 0 22 0 22
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 5 0 0 0 0 21
Genetic Services Laboratory, University of Chicago 1 0 18 0 0 0 19
Mendelics 5 6 5 1 2 0 19
Neuberg Centre For Genomic Medicine, NCGM 2 7 9 0 0 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 5 7 0 0 0 15
3billion, Medical Genetics 8 4 2 1 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 4 5 5 0 0 0 14
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 10 0 0 0 12
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 5 0 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 1 0 0 10
New York Genome Center 0 2 8 0 0 0 10
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 9 0 0 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 4 0 0 0 0 9
Centogene AG - the Rare Disease Company 1 1 6 0 0 0 8
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 7 0 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 5 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 5 0 0 0 0 5
MGZ Medical Genetics Center 3 1 1 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 1 1 3 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 2 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 0 1 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 1 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 1 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 1 0 0 0 4
Institute of Human Genetics, Cologne University 0 3 0 0 0 0 3
Institute of Experimental Medicine, Department of Genetics, Istanbul University 3 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 2 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 0 3
Institute of Human Genetics, University of Goettingen 1 0 1 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 2
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 2 0 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
Daryl Scott Lab, Baylor College of Medicine 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Clinical genetics, CHU Grenoble-Alpes 2 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 1 1 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 2 0 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Shanghai First Maternity and Infant Hospital, Tongji University 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford 0 0 0 1 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Corniche Hospital, Abu Dhabi, Abu Dhabi Health Services Co - SEHA 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Prenatal Diagnosis Center, Peking University People's Hospital 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 0 1 0 0 0 1

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