ClinVar Miner

Variants studied for disorder of multiple glycosylation

Included ClinVar conditions (30):
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 affects not provided total
484 250 2625 2341 358 1 19 5715

Gene and significance breakdown #

Total genes and gene combinations: 78
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
GNE 125 129 355 379 18 1 12 901
COG5 53 16 347 262 40 0 0 678
SEC23B 46 22 88 291 33 0 0 455
PGM3 46 8 129 234 10 0 1 420
DOLK 8 0 286 128 9 0 0 413
COG7 7 4 194 195 27 0 2 399
SLC35C1 8 4 157 100 18 0 0 274
SLC35A2 30 13 74 93 47 0 1 256
COG1 5 3 138 87 15 0 0 228
COG6 15 6 109 55 24 0 1 194
SRD5A3 10 4 92 37 17 0 0 155
COG4 11 5 66 50 20 0 0 149
COG2 5 1 42 55 11 0 0 113
COG8 4 2 64 32 10 0 0 102
ADNP, DPM1 10 6 51 38 3 0 0 101
DPM2 7 2 42 43 6 0 0 95
MPDU1 5 6 43 15 8 0 1 69
DOP1A, PGM3 6 2 26 32 4 0 0 68
LOC126862987, SEC23B 12 2 8 42 7 0 0 68
DPM1 5 1 29 27 2 0 0 61
DPM1, LOC130066166 3 1 36 24 1 0 0 59
SLC35A1 5 3 16 25 6 0 0 52
DPM3 13 1 27 6 3 0 1 48
CAD 10 4 28 3 1 0 0 45
COG1, LOC126862634 4 0 18 19 1 0 0 41
COG5, LOC129389837 2 2 17 9 1 0 0 30
COG1, VCF1 0 0 18 8 1 0 0 26
COG7, LOC130058658 1 1 11 13 0 0 0 25
COG1, LOC130061576 1 0 13 10 2 0 0 24
COG5, DUS4L, DUS4L-BCAP29 1 1 13 4 2 0 0 21
COG8, LOC130059304 2 1 11 6 2 0 0 19
DPM2, LOC130002675 0 0 11 0 1 0 0 12
B4GALT1 3 0 5 2 2 0 0 11
COG1, LOC125316790 0 0 7 2 2 0 0 11
COG5, HBP1 0 0 10 1 0 0 0 11
COG1, LOC130061577 0 0 7 4 0 0 0 10
COG8, PDF 0 0 6 0 2 0 0 8
CAD, LOC126806172 0 0 4 0 0 0 0 4
LOC130005625, SLC35C1 0 0 4 0 0 0 0 4
TMEM199 4 0 0 0 0 0 0 4
CCDC115 1 0 2 0 0 0 0 3
COG8, LOC130059305 0 0 1 2 0 0 0 3
COG8, LOC130059306 0 0 1 3 0 0 0 3
DOLK, NUP188 0 0 2 0 1 0 0 3
ACP2, AGBL2, AMBRA1, ARFGAP2, ARHGAP1, ATG13, C1QTNF4, CELF1, CHRM4, CKAP5, CREB3L1, CRY2, CSTPP1, DDB2, DGKZ, F2, FAM180B, FNBP4, FREY1, HARBI1, KBTBD4, LARGE2, LRP4, MADD, MAPK8IP1, MDK, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, PACSIN3, PEX16, PHF21A, PSMC3, PTPMT1, RAPSN, SLC35C1, SLC39A13, SPI1, ZNF408 1 0 1 0 0 0 0 2
CAD, LOC126806171 0 0 2 0 0 0 0 2
COG2, LOC129932756 0 0 0 2 0 0 0 2
COG5, DUS4L 2 0 0 0 0 0 0 2
GNE, LOC130001749 0 0 1 1 0 0 0 2
ADNP, DPM1, LOC130066166 1 0 0 0 0 0 0 1
ADNP, DPM1, MOCS3 1 0 0 0 0 0 0 1
AGT, ARV1, C1orf131, C1orf198, CAPN9, COG2, FAM89A, GALNT2, GNPAT, PGBD5, TRIM67, TTC13 1 0 0 0 0 0 0 1
AK1, BBLN, CDK9, CFAP157, CIZ1, DPM2, EEIG1, ENG, FPGS, LCN2, LOC102723566, LOC106783495, LOC108281127, LOC113839508, LOC113839509, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC114827831, LOC116216099, LOC116216100, LOC124310649, LOC124310650, LOC124310651, LOC126860771, LOC129390114, LOC130002649, LOC130002650, LOC130002651, LOC130002652, LOC130002653, LOC130002654, LOC130002655, LOC130002656, LOC130002657, LOC130002658, LOC130002659, LOC130002660, LOC130002661, LOC130002662, LOC130002663, LOC130002664, LOC130002665, LOC130002666, LOC130002667, LOC130002668, LOC130002669, LOC130002670, LOC130002671, LOC130002672, LOC130002673, LOC130002674, LOC130002675, LOC130002676, LOC130002677, LOC130002678, LOC130002679, LOC130002680, LOC130002681, LOC130002682, LOC130002683, LOC130002684, LOC130002685, LOC130002686, LOC130002687, LOC130002688, LOC130002689, LOC130002690, LOC130002691, LOC130002692, LOC130002693, LOC130002694, LRSAM1, MIR2861, MIR3911, MIR3960, MIR4672, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6, STXBP1, TOR2A, TTC16 0 0 1 0 0 0 0 1
AK1, BBLN, CDK9, CFAP157, CIZ1, DPM2, EEIG1, ENG, FPGS, LCN2, LRSAM1, MIR2861, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16 1 0 0 0 0 0 0 1
AKAP4, ARAF, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CDK16, CFP, CLCN5, DGKK, EBP, ELK1, ERAS, FOXP3, FTSJ1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, INE1, KCND1, LINC01560, MAGIX, MIR502, MIR532, NDUFB11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM10, RBM3, SHROOM4, SLC35A2, SLC38A5, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SUV39H1, SYN1, SYP, TBC1D25, TFE3, TIMM17B, TIMP1, UBA1, USP11, USP27X, UXT, WAS, WDR13, WDR45, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81 0 0 1 0 0 0 0 1
AKAP4, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CLCN5, DGKK, EBP, ERAS, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, KCND1, MAGIX, MIR502, MIR532, NUDT10, NUDT11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM3, SHROOM4, SLC35A2, SUV39H1, SYP, TBC1D25, TFE3, TIMM17B, USP27X, WAS, WDR13, WDR45 0 0 1 0 0 0 0 1
BANF2, DZANK1, KAT14, MGME1, OVOL2, PET117, POLR3F, RBBP9, RRBP1, SEC23B, SNX5, ZNF133 1 0 0 0 0 0 0 1
BCAP29, COG5, DUS4L, SLC26A4 1 0 0 0 0 0 0 1
CACNA1F, CCDC120, CCDC22, CLCN5, EBP, ERAS, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, KCND1, MAGIX, MIR502, MIR532, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM3, SLC35A2, SUV39H1, SYP, TBC1D25, TFE3, TIMM17B, USP27X, WAS, WDR13, WDR45 0 0 1 0 0 0 0 1
CCDC115, LOC129934769 1 0 0 0 0 0 0 1
CCDC120, GRIPAP1, KCND1, OTUD5, PIM2, PQBP1, PRAF2, SLC35A2, TFE3, WDR45 0 0 1 0 0 0 0 1
CEP290 1 0 0 0 0 0 0 1
COG4, FCSK, LOC125177345, LOC130059335, LOC130059336, LOC130059337, LOC130059338, LOC130059339, LOC130059340, ST3GAL2 1 0 0 0 0 0 0 1
COG5, DUS4L, DUS4L-BCAP29, LOC129999121 0 0 1 0 0 0 0 1
COG5, DUS4L, GPR22 1 0 0 0 0 0 0 1
COG5, GPR22 0 0 1 0 0 0 0 1
COG7, EARS2, GGA2, NDUFAB1, PALB2, SCNN1B, SCNN1G, UBFD1 0 0 1 0 0 0 0 1
CRY2, FREY1, MAPK8IP1, PEX16, SLC35C1 0 0 1 0 0 0 0 1
DOP1A, ME1, PGM3, PRSS35, RWDD2A, SNAP91, TPBG, UBE3D 1 0 0 0 0 0 0 1
ERAS, GATA1, GLOD5, HDAC6, PCSK1N, PQBP1, SLC35A2, SUV39H1, TIMM17B, WAS 0 0 1 0 0 0 0 1
LOC100996842, MPDU1 0 0 1 0 0 0 0 1
LOC130060544, TMEM199 0 0 0 1 0 0 0 1
LOC130068257, LOC130068258, SLC35A2 1 0 0 0 0 0 0 1
ME1, PGM3, RWDD2A 1 0 0 0 0 0 0 1
MPDU1, SOX15 0 0 1 0 0 0 0 1
POLR3F, RBBP9, SEC23B 0 0 1 0 0 0 0 1
RARS2, SLC35A1 0 0 0 0 1 0 0 1
SARM1 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 101
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Labcorp Genetics (formerly Invitae), Labcorp 337 75 1895 2247 286 0 0 4840
Illumina Laboratory Services, Illumina 4 3 614 72 99 0 0 792
Baylor Genetics 38 41 73 0 0 0 0 152
OMIM 122 0 0 0 0 0 0 122
Fulgent Genetics, Fulgent Genetics 12 8 68 25 3 0 0 116
Natera, Inc. 17 5 59 4 4 0 0 89
Counsyl 5 44 35 0 0 0 0 84
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 22 16 0 0 0 0 0 38
Genome-Nilou Lab 0 0 1 2 33 0 0 36
Revvity Omics, Revvity 3 4 28 0 0 0 0 35
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 3 12 1 0 0 0 25
Neuberg Centre For Genomic Medicine, NCGM 4 6 15 0 0 0 0 25
Mendelics 7 5 3 2 3 0 0 20
Myriad Genetics, Inc. 5 15 0 0 0 0 0 20
Juno Genomics, Hangzhou Juno Genomics, Inc 3 7 4 0 0 0 0 14
3billion 3 3 2 4 0 0 0 12
GeneReviews 0 0 0 0 0 0 10 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 5 0 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 5 0 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 2 2 0 0 8
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 7 1 0 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 4 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 0 7
New York Genome Center 0 3 4 0 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 3 0 0 0 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 3 3 0 0 0 0 0 6
MGZ Medical Genetics Center 3 1 1 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 3 0 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 1 0 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 3 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 1 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 1 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 0 4
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 2 1 1 0 0 0 0 4
Department of Hepatology, Children's Hospital of Fudan University 4 0 0 0 0 0 0 4
Suma Genomics 3 0 1 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 1 2 0 1 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 3 0 0 0 0 4
Sema4, Sema4 2 0 1 0 0 0 0 3
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 2 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 2 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 1 2 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 1 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 2 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 1 1 0 0 0 0 0 2
Bicknell laboratory, University of Otago 2 0 0 0 0 0 0 2
GenePathDx, GenePath diagnostics 2 0 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 0 2
Neurology Department, Peking University First Hospital 1 1 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 1 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 1 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 2
Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 2 0 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 0 2
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 1 1 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 0 2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 1 0 0 0 0 0 2
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 2 0 0 0 0 0 0 2
Lifecell International Pvt. Ltd 2 0 0 0 0 0 0 2
Research Laboratories, P. D. Hinduja Hospital & MRC 0 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 2 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 1 0 0 0 0 1
FirmaLab, FirmaLab 1 0 0 0 0 0 0 1
Leiden Muscular Dystrophy (DPM3) 0 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 1
Emory University School of Medicine, Department of Human Genetics, Emory University 1 0 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 0 0 0 0 0 1
Unidade de Bioquimica Genetica, Centro Hospitalar do Porto 1 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 0 1
DNA Laboratuvarlari GHTM 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 0 1
Precision Medical Center, Wuhan Children's Hospital 0 1 0 0 0 0 0 1
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory 1 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 0 1 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.