ClinVar Miner

Variants studied for congenital disorder of glycosylation type II

Included ClinVar conditions (19):
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
83 21 163 10 10 1 284

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MOGS 6 2 54 3 3 0 68
SLC35A2 11 7 11 2 1 0 32
SLC35C1 4 3 22 4 0 0 31
COG5 5 1 16 0 1 0 23
COG6 9 2 8 0 0 1 19
COG4 6 1 8 0 3 0 18
MGAT2 9 0 9 0 0 0 18
COG7 3 3 6 0 0 0 12
COG1 3 0 6 0 0 0 9
COG2 3 0 5 0 1 0 9
COG8 3 1 4 0 0 0 8
SLC39A8 6 0 2 0 0 0 8
SLC35A1 4 0 3 0 0 0 7
TMEM165 4 0 2 0 1 0 6
TMEM199 4 0 0 0 0 0 4
COG1, FAM104A 0 0 3 0 0 0 3
B4GALT1 1 0 1 0 0 0 2
CCDC115 2 0 0 0 0 0 2
COG8, NIP7 0 0 1 1 0 0 2
CCDC120, GRIPAP1, KCND1, OTUD5, PIM2, PQBP1, PRAF2, SLC35A2, TFE3, WDR45 0 0 1 0 0 0 1
COG5, DUS4L, DUS4L-BCAP29 0 1 0 0 0 0 1
ERAS, GATA1, GLOD5, HDAC6, PCSK1N, PQBP1, SLC35A2, SUV39H1, TIMM17B, WAS 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 8 3 141 8 7 0 167
OMIM 57 0 0 0 0 0 57
Mendelics 1 4 3 0 3 0 11
Fulgent Genetics,Fulgent Genetics 1 0 7 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 3 0 0 0 6
Illumina Clinical Services Laboratory,Illumina 0 0 6 0 0 0 6
Broad Institute Rare Disease Group,Broad Institute 0 0 5 0 0 0 5
Lab Thiel (Congenital Disorders of Glycosylation),Center for Child and Adolescent Medicine 4 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 0 0 3
University of Washington Center for Mendelian Genomics,University of Washington 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 2 0 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 2 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
Metabolic Research Unit,Children's University Hospital Muenster 2 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 1 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 1 0 0 0 0 2
Molecular Diagnostic Laboratory,Shanghai Children's Medical Center 2 0 0 0 0 0 2
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 1 1 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 0 0 0 0 1
Unidade de Bioquimica Genetica,Centro Hospitalar do Porto 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1

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