ClinVar Miner

Variants studied for disorder of GPI anchor biosynthesis

Included ClinVar conditions (35):
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 risk factor not provided total
465 220 2115 1771 226 3 4 4655

Gene and significance breakdown #

Total genes and gene combinations: 58
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
PIGN 124 74 365 523 47 0 0 1112
PIGG 67 19 423 397 38 0 1 926
PIGO 62 17 483 341 21 0 1 895
ST3GAL5 35 14 159 167 11 0 0 370
MYO19, PIGW 7 3 171 95 7 0 1 279
PIGA 26 24 134 74 33 0 0 278
PIGT 18 9 95 97 12 3 0 226
PIGM 2 1 61 10 9 0 0 82
LOC129934236, ST3GAL5 6 1 30 31 4 0 0 71
PIGV 7 3 50 4 7 0 0 68
PIGL 5 4 36 2 5 0 0 49
PIGQ 6 5 9 3 18 0 1 40
PGAP3 27 12 7 0 2 0 0 39
GPAA1 12 10 16 0 0 0 0 31
PGAP2 9 7 9 0 0 0 0 25
PIGB 7 2 9 0 3 0 0 20
C1orf105, PIGC 4 4 10 0 2 0 0 17
PIGS 10 4 5 0 0 0 0 16
LOC132090498, PIGN 0 1 0 11 2 0 0 14
LOC132090497, PIGN 1 1 5 7 0 0 0 13
PIGK 9 0 1 0 3 0 0 13
PIGG, ZNF721 1 0 8 0 0 0 0 9
LOC129934233, ST3GAL5 0 0 0 4 1 0 0 5
MIR6812, PIGT 0 0 0 4 1 0 0 5
PIGP 2 2 3 0 0 0 0 5
PIGY, PYURF 1 0 3 0 0 0 0 4
GPAA1, LOC130001364 0 1 2 0 0 0 0 3
LOC130001694, PIGO 0 0 2 1 0 0 0 3
PIGN, RELCH, TNFRSF11A 1 0 2 0 0 0 0 3
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, PIGW, SYNRG, TADA2A 0 0 2 0 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 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 0 2
CCPG1, DNAAF4-CCPG1, PIGB 1 0 1 0 0 0 0 2
GPHN, PIGH 2 0 1 0 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 0 1
AATF, ACACA, DHRS11, GGNBP2, LHX1, MRM1, MYO19, PIGW 0 0 1 0 0 0 0 1
ACE2, AP1S2, ASB11, ASB9, BMX, CA5B, CLTRN, FANCB, INE2, MOSPD2, PIGA, PIR, VEGFD, ZRSR2 1 0 0 0 0 0 0 1
ACE2, AP1S2, BMX, CA5B, CLTRN, INE2, PIGA, PIR, VEGFD, ZRSR2 0 0 1 0 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 0 1
ATP5ME, CPLX1, DGKQ, FGFRL1, GAK, IDUA, MYL5, PCGF3, PDE6B, PIGG, SLC26A1, SLC49A3, TMEM175 1 0 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 0 1
ATXN2, LOC130008791 0 0 1 0 0 0 0 1
C18orf32, RPL17-C18orf32 1 0 0 0 0 0 0 1
GGNBP2, MYO19, PIGW 0 0 1 0 0 0 0 1
GPHN, LOC130055900, PIGH 1 0 0 0 0 0 0 1
LOC110806306 1 0 0 0 0 0 0 1
LOC129934229, LOC129934230, LOC129934231, LOC129934232, LOC129934233, LOC129934234, LOC129934235, LOC129934236, ST3GAL5 0 0 1 0 0 0 0 1
LOC130060313, PIGL 0 0 1 0 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 0 1
LOC132090496, LOC132090497, LOC132090498, LOC132090499, LOC132090899, PIGN 1 0 0 0 0 0 0 1
LOC132090496, PIGN 0 1 0 0 0 0 0 1
PDE6B, PIGG, ZNF721 1 0 0 0 0 0 0 1
PIGG, ZNF141, ZNF718, ZNF721, ZNF732 0 0 1 0 0 0 0 1
PIGW 0 0 1 0 0 0 0 1
PIGY 1 0 0 0 0 0 0 1
POLR1A, ST3GAL5 0 0 1 0 0 0 0 1
SETD5 0 0 1 0 0 0 0 1
SPTBN1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 102
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 303 81 1799 1747 174 0 0 4104
Illumina Laboratory Services, Illumina 6 2 153 16 27 0 0 204
OMIM 128 0 0 0 0 1 0 129
Baylor Genetics 14 13 71 0 0 0 0 98
Revvity Omics, Revvity 9 14 32 0 0 0 0 55
Fulgent Genetics, Fulgent Genetics 10 19 17 7 2 0 0 55
Genome-Nilou Lab 0 0 0 0 48 0 0 48
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 4 19 0 0 0 0 32
Mendelics 8 9 6 1 2 0 0 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 7 0 0 0 0 0 24
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 7 11 0 0 0 0 22
Neuberg Centre For Genomic Medicine, NCGM 3 7 11 0 0 0 0 21
Genetic Services Laboratory, University of Chicago 1 0 18 0 0 0 0 19
3billion, Medical Genetics 8 6 2 3 0 0 0 19
Institute of Human Genetics, University of Leipzig Medical Center 4 6 7 0 0 0 0 17
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 9 5 0 0 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 2 0 0 0 14
New York Genome Center 0 4 10 0 0 0 0 14
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 10 0 0 0 0 12
SIB Swiss Institute of Bioinformatics 0 11 1 0 0 0 0 12
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 9 0 0 0 0 2 0 11
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 5 0 0 0 0 0 10
Centogene AG - the Rare Disease Company 1 1 6 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 4 0 0 0 0 8
MGZ Medical Genetics Center 3 2 2 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 5 0 0 0 0 7
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 7 0 0 0 0 0 0 7
Pangenia Genomics, Pangenia Inc. 0 5 2 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 0 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 5 0 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 0 1 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 1 1 3 0 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 2 2 1 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 2 1 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 1 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 1 0 0 0 0 4
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 2 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 3 0 0 0 0 0 3
Institute of Experimental Medicine, Department of Genetics, Istanbul University 3 0 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 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 0 3
Laboratory of Medical Genetics, University of Torino 1 0 2 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 2 0 0 0 0 3
DASA 2 1 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 1 0 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 0 2
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 2 0 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 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 0 2
Clinical genetics, CHU Grenoble-Alpes 2 0 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 1 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 1 1 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 2 0 0 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Shanghai First Maternity and Infant Hospital, Tongji University 0 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 0 1
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford 0 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 0 0 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 1 0 0 0 0 1
Gastroenterology Department, Qilu Hospital of Shandong University 0 0 1 0 0 0 0 1
AUSL-IRCCS di Reggio Emilia, Arcispedale Santa Maria Nuova 0 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Corniche Hospital, Abu Dhabi, Abu Dhabi Health Services Co - SEHA 0 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 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 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1
Prenatal Diagnosis Center, Peking University People's Hospital 0 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 0 1 0 0 0 0 1

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