ClinVar Miner

Variants studied for hyperphosphatasia-intellectual disability syndrome

Included ClinVar conditions (9):
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
112 42 726 385 37 2 1257

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PIGO 58 17 481 297 21 1 844
MYO19, PIGW 7 3 167 83 7 1 263
PIGV 7 3 50 4 7 0 68
PGAP3 26 11 7 0 2 0 38
PGAP2 9 6 8 0 0 0 23
PIGY, PYURF 1 0 3 0 0 0 4
LOC130001694, PIGO 0 0 2 1 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
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
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
GGNBP2, MYO19, PIGW 0 0 1 0 0 0 1
PIGB 0 0 1 0 0 0 1
PIGG 1 0 0 0 0 0 1
PIGL 0 1 0 0 0 0 1
PIGW 0 0 1 0 0 0 1
PIGY 1 0 0 0 0 0 1
SETD5 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 57 6 610 372 27 0 1072
Illumina Laboratory Services, Illumina 1 1 87 10 16 0 115
OMIM 30 0 0 0 0 0 30
Baylor Genetics 3 3 18 0 0 0 24
Fulgent Genetics, Fulgent Genetics 2 1 10 4 1 0 18
Revvity Omics, Revvity 4 4 9 0 0 0 17
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 9 0 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 7 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 3 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 1 0 0 8
New York Genome Center 0 2 5 0 0 0 7
Mendelics 0 2 3 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 1 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 3 0 0 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 0 5
Centogene AG - the Rare Disease Company 0 1 3 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 0 0 0 0 4
3billion 2 1 1 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 1 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Institute of Experimental Medicine, Department of Genetics, Istanbul University 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 2 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 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
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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 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
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 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 1
Solve-RD Consortium 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

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