ClinVar Miner

Variants studied for congenital disorder of glycosylation type I

Included ClinVar conditions (32):
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
200 131 363 39 42 8 731

Gene and significance breakdown #

Total genes and gene combinations: 36
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PMM2 48 58 32 2 3 0 115
ALG13 2 0 52 7 5 0 66
DOLK 6 1 46 2 0 0 55
ALG6 10 20 21 3 2 0 52
MPI 8 21 16 2 6 1 52
PGM1 14 0 23 13 4 1 52
ALG2 2 0 33 2 1 0 38
DPAGT1 10 4 22 1 0 0 36
ALG12 9 2 15 1 2 0 29
ALG1 11 10 8 1 3 0 27
DPM1 4 0 18 3 0 0 25
RFT1 8 1 9 0 0 0 18
ALG8 7 1 5 0 4 0 16
ALG3 10 2 4 0 0 0 15
ADNP, DPM1 6 0 7 0 1 0 14
DPM2 2 0 8 0 3 0 13
SRD5A3 6 1 6 0 0 0 13
DPM3 3 1 8 1 0 1 12
ALG11 4 0 5 0 2 0 11
ALG9 4 0 5 0 2 0 11
CAD 6 2 0 1 0 0 8
DDOST 2 1 3 0 0 2 8
MPDU1 4 3 2 0 0 0 8
NUS1 2 1 5 0 0 0 7
ATP6V0A2 1 0 3 0 2 0 6
STT3B 1 0 3 0 1 1 6
SSR4 5 1 0 0 0 0 5
LOC100996842, MPDU1 1 0 1 0 0 1 3
ALG1, EEF2KMT 0 1 1 0 0 0 2
ALG11, UTP14C 2 0 0 0 0 0 2
ABAT, PMM2, TMEM186 1 0 0 0 0 0 1
AK1, C9orf16, 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 0 0 0 0 1 0 1
ALG11, ATP7B, UTP14C 0 0 1 0 0 0 1
DPAGT1, HMBS 0 0 0 0 0 1 1
STT3A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 51 17 264 16 27 0 375
Counsyl 12 82 50 4 1 0 149
OMIM 134 0 1 0 0 0 135
Illumina Clinical Services Laboratory,Illumina 8 0 30 13 2 0 53
Fulgent Genetics,Fulgent Genetics 9 3 9 1 0 0 22
Integrated Genetics/Laboratory Corporation of America 17 4 0 0 0 0 21
Mendelics 5 8 1 2 2 0 18
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 5 0 0 1 11 0 17
Baylor Genetics 11 1 2 0 0 0 14
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 3 9 0 0 0 13
GeneReviews 12 0 0 0 0 0 12
Genome Diagnostics Laboratory,University Medical Center Utrecht 5 1 0 3 1 0 10
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 4 4 0 0 0 0 8
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 1 5 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Institute of Human Genetics,Klinikum rechts der Isar 3 3 0 0 0 0 6
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
Undiagnosed Diseases Network,NIH 1 3 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 2 0 0 0 4
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
Broad Institute Rare Disease Group,Broad Institute 2 0 1 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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
Biochemistry and Genetic Laboratory,APHP Bichat Claude Bernard Hospital 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Leiden Muscular Dystrophy (DPM3) 0 0 0 0 0 1 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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 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
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

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