ClinVar Miner

Variants studied for congenital disorder of glycosylation type I

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
294 184 1486 557 278 9 2591

Gene and significance breakdown #

Total genes and gene combinations: 43
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PMM2 81 76 128 60 19 0 304
ALG13 3 1 155 82 34 0 272
DOLK 6 1 151 52 9 0 203
ALG6 25 26 70 74 15 0 190
MPI 15 29 74 52 14 1 164
RFT1 8 2 107 17 22 0 147
ALG12 12 4 73 21 20 0 116
ALG2 2 2 75 28 8 1 113
DPAGT1 10 5 76 26 3 0 109
PGM1 18 3 53 22 15 1 99
SRD5A3 6 1 70 9 16 0 98
ALG9 4 0 70 12 11 0 97
ALG3 10 3 47 9 5 0 67
ALG8 12 3 39 12 11 0 66
ALG1 13 11 21 10 11 0 60
DPM2 4 1 39 8 6 0 55
DPM1 5 2 35 13 0 0 50
ATP6V0A2 5 0 14 11 16 0 46
ADNP, DPM1 7 0 27 9 2 0 45
MPDU1 4 4 27 3 6 0 41
DDOST 2 1 14 8 9 2 36
ALG11 6 1 21 2 3 0 33
ALG11, UTP14C 3 0 22 1 6 0 32
CAD 7 3 17 1 0 0 27
DPM3 4 1 17 1 2 1 24
STT3B 1 0 7 7 8 1 24
NUS1 3 1 12 3 2 0 20
LOC100996842, MPDU1 1 0 5 2 0 1 8
SSR4 8 1 0 0 0 0 8
DPAGT1, HMBS 0 0 3 2 3 1 7
ABAT, PMM2, TMEM186 1 0 5 0 0 0 6
ALG1, EEF2KMT 0 2 3 0 1 0 6
DOLK, NUP188 0 0 2 0 1 0 3
MAGT1 2 0 1 0 0 0 3
STT3A 2 0 1 0 0 0 3
ABCG4, C2CD2L, CBL, CCDC153, DPAGT1, HINFP, NLRX1, PDZD3 1 0 1 0 0 0 2
ADM2, ALG12, ARSA, CHKB, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, ODF3B, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP 1 0 0 0 0 0 1
AK1, BBLN, CDK9, CFAP157, CIZ1, DPM2, ENG, FAM102A, FPGS, LCN2, LOC102723566, LOC106783495, LOC108281127, LOC113839508, LOC113839509, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC114827831, LOC116216099, LOC116216100, LRSAM1, MIR2861, MIR3911, MIR3960, MIR4672, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16 0 0 1 0 0 0 1
ALG11, ATP7B, UTP14C 0 0 1 0 0 0 1
ALG13, DCX 0 0 1 0 0 0 1
AP4E1 1 0 0 0 0 0 1
IDH3G, PLXNB3, SRPK3, SSR4 1 0 0 0 0 0 1
MPDU1, SOX15 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 129 51 694 485 179 0 1538
Illumina Clinical Services Laboratory,Illumina 8 0 688 63 107 0 866
OMIM 149 0 1 0 0 0 150
Counsyl 6 81 50 4 1 0 142
Baylor Genetics 19 3 65 0 0 0 87
Natera, Inc. 15 3 24 10 17 0 69
Integrated Genetics/Laboratory Corporation of America 25 10 0 0 0 0 35
Fulgent Genetics,Fulgent Genetics 9 3 9 1 0 0 22
Mendelics 5 8 1 2 2 0 18
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 5 0 0 1 11 0 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 3 9 0 0 0 13
GeneReviews 12 0 0 0 0 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 5 1 0 1 0 11
Genome Diagnostics Laboratory,University Medical Center Utrecht 5 1 0 3 1 0 10
GenomeConnect, ClinGen 0 0 0 0 0 8 8
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 4 4 0 0 0 0 8
Myriad Women's Health, Inc. 6 2 0 0 0 0 8
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 5 2 0 0 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 1 1 5 0 0 0 7
Institute of Human Genetics, Klinikum rechts der Isar 4 3 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 2 0 0 7
Pediatric Metabolic Diseases,Hacettepe University 4 3 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 5 1 0 0 0 6
Lab Thiel (Congenital Disorders of Glycosylation),Center for Child and Adolescent Medicine 5 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 2 0 0 0 5
Biochemistry and Genetic Laboratory,APHP Bichat Claude Bernard Hospital 3 2 0 0 0 0 5
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 4 0 0 0 0 0 4
Undiagnosed Diseases Network,NIH 1 3 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 2 0 0 2 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 3 0 0 0 1 0 4
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 3 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 0 3
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute 3 0 0 0 0 0 3
Daryl Scott Lab,Baylor College of Medicine 3 0 0 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 2 0 1 0 0 0 3
New York Genome Center 0 2 1 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Dobyns Lab,Seattle Children's Research Institute 2 0 0 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 0 0 0 0 2
Neurology Department,Peking University First Hospital 1 1 0 0 0 0 2
Medical Genetics Laboratory,Bambino Gesù Children's Hospital 0 2 0 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 1 1 0 0 0 2
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 1 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Leiden Muscular Dystrophy (DPM3) 0 0 0 0 0 1 1
Service de Génétique Moléculaire,Hôpital Robert Debré 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Kasturba Medical College, Manipal University 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
DNA Laboratuvarlari GHTM 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Department of Medical Genetics,Faculty of Medicine, Istanbul University 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
Pediatric Neurology and Rare Diseases Department, Hospital Sant Joan de Deu 1 0 0 0 0 0 1

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