ClinVar Miner

Variants studied for congenital disorder of glycosylation type II

Included ClinVar conditions (21):
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
128 36 808 231 152 1 1271

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MOGS 8 3 127 24 13 0 174
SLC35C1 5 2 110 27 17 0 154
COG5 16 3 109 23 19 0 150
COG6 10 2 83 22 18 1 125
COG1 5 0 67 23 14 0 98
COG7 3 3 68 24 12 0 98
SLC35A2 22 9 27 23 16 0 96
MGAT2 9 0 61 6 4 0 75
COG8 6 1 44 11 10 0 64
COG4 8 2 22 16 10 0 57
COG2 3 1 17 15 7 0 43
TMEM165 4 0 21 2 4 0 29
SLC35A1 4 2 5 10 1 0 20
COG5, DUS4L, DUS4L-BCAP29 1 1 11 2 2 0 17
SLC39A8 6 4 4 0 0 0 13
COG5, HBP1 0 0 10 1 0 0 11
COG1, FAM104A 0 0 8 1 0 0 9
COG8, PDF 0 0 6 0 2 0 8
GALNT2 5 3 0 0 0 0 6
TMEM199 6 0 0 0 0 0 6
B4GALT1 3 0 3 0 0 0 5
DNAAF2, MGAT2 0 0 0 0 3 0 3
ATP6AP2 2 0 0 0 0 0 2
CCDC115 2 0 0 0 0 0 2
ACP2, AGBL2, AMBRA1, ARFGAP2, ARHGAP1, ATG13, C11orf49, C11orf94, C1QTNF4, CELF1, CHRM4, CKAP5, CREB3L1, CRY2, DDB2, DGKZ, F2, FAM180B, FNBP4, HARBI1, KBTBD4, LARGE2, LRP4, MADD, MAPK8IP1, MDK, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, PACSIN3, PEX16, PHF21A, PSMC3, PTPMT1, RAPSN, SLC35C1, SLC39A13, SPI1, ZNF408 0 0 1 0 0 0 1
C11orf94, CRY2, MAPK8IP1, PEX16, SLC35C1 0 0 1 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 1
CCDC120, GRIPAP1, KCND1, OTUD5, PIM2, PQBP1, PRAF2, SLC35A2, TFE3, WDR45 0 0 1 0 0 0 1
ERAS, GATA1, GLOD5, HDAC6, PCSK1N, PQBP1, SLC35A2, SUV39H1, TIMM17B, WAS 0 0 1 0 0 0 1
SARM1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 21 7 367 193 100 0 688
Illumina Clinical Services Laboratory,Illumina 0 0 402 39 56 0 497
OMIM 77 0 0 0 0 0 77
Baylor Genetics 9 2 47 0 0 0 58
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 2 1 4 0 0 0 7
Broad Institute Rare Disease Group, Broad Institute 0 0 6 1 0 0 7
University of Washington Center for Mendelian Genomics, University of Washington 3 2 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 2 1 0 4
SIB Swiss Institute of Bioinformatics 2 2 0 0 0 0 4
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
Department of Hepatology,Children's Hospital of Fudan University 4 0 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 2 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 1 2 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 2 0 0 0 3
Centogene AG - the Rare Disease Company 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
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Department of Medical Genetics and 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
New York Genome Center 0 1 1 0 0 0 2
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 1 0 1 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Kasturba Medical College, Manipal University 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
Kids Research, The Children's Hospital at Westmead 0 1 0 0 0 0 1
Nilou-Genome Lab 0 0 0 1 0 0 1

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