ClinVar Miner

Variants studied for MOGS-congenital disorder of glycosylation

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
25 12 268 204 18 516

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MOGS 22 12 245 186 16 470
LOC129934128, MOGS 2 0 23 18 2 45
ACTG2, ALMS1, AUP1, BOLA3, C2orf78, C2orf81, CCDC142, CCT7, CYP26B1, DCTN1, DGUOK, DOK1, DQX1, DUSP11, EGR4, EMX1, EXOC6B, FBXO41, HTRA2, INO80B, LBX2, LOXL3, MOB1A, MOGS, MRPL53, MTHFD2, NAT8, NAT8B, NOTO, PCGF1, PRADC1, RAB11FIP5, RTKN, SFXN5, SLC4A5, SMYD5, SPR, STAMBP, TET3, TLX2, TPRKB, TTC31, WBP1, WDR54 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 20 2 261 198 17 498
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 5 6 12
Fulgent Genetics, Fulgent Genetics 1 1 8 2 0 12
Revvity Omics, Revvity 2 2 3 0 0 7
OMIM 4 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
Baylor Genetics 1 0 2 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 0 1 0 3
3billion 0 0 0 3 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 1

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