Variants studied for Congenital disorder of glycosylation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	total
6	53	295	123	53	528

Gene and significance breakdown #

Total genes and gene combinations: 56

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
TUSC3	0	0	94	13	12	119
RPN2	0	0	54	51	12	117
PGM1	0	0	20	13	2	35
ALG1	2	29	1	0	0	30
DDOST, PINK1	0	0	10	11	6	27
ALG9	0	0	20	1	0	21
SRD5A3	0	4	9	1	1	15
B4GALT1	0	0	11	2	0	13
COG6	0	0	6	4	2	12
DPAGT1	0	9	0	0	0	9
MROH8, RPN2	0	0	1	8	0	9
MGAT2	0	0	8	0	0	8
RARS2, SLC35A1	0	0	1	3	3	7
DNAAF2, MGAT2	0	0	0	2	4	6
DPAGT1, HMBS	0	0	2	1	3	6
DPAGT1, LOC126861360	0	3	3	0	0	6
MPDU1	0	0	5	1	0	6
PMM2	1	0	4	1	0	6
TMEM165	0	0	2	2	2	6
ALG6	0	0	3	2	0	5
COG7	0	0	4	0	1	5
ALG12	0	0	3	1	0	4
SLC35A1	0	0	4	0	0	4
ADNP, DPM1	0	0	1	2	0	3
ALG13	0	3	0	0	0	3
ALG2	0	0	3	0	0	3
ALG8	0	0	2	0	1	3
COG1, LOC130061576	0	0	2	0	1	3
RFT1	0	0	3	0	0	3
ALG11, ATP7B	0	0	0	0	2	2
COG5	0	0	1	1	0	2
COG5, HBP1	0	0	1	1	0	2
COG8	0	0	2	0	0	2
DDOST	0	0	2	0	0	2
LOC129992612, TMEM165	0	0	2	0	0	2
MAGT1	2	0	0	0	0	2
ALG1, EEF2KMT	0	1	0	0	0	1
ALG1, LOC130058384	0	1	0	0	0	1
ALG11, UTP14C	0	0	1	0	0	1
ALG12, LOC130067776	0	0	0	1	0	1
ALG3	0	0	1	0	0	1
COG1	0	0	1	0	0	1
COG1, LOC126862634	0	0	1	0	0	1
COG5, DUS4L, DUS4L-BCAP29	0	0	1	0	0	1
COG8, PDF	0	0	1	0	0	1
DOLK, NUP188	0	0	0	1	0	1
LOC129992613, TMEM165	0	0	0	0	1	1
LOC130005625, SLC35C1	0	0	1	0	0	1
LOC130055539, MGAT2	0	0	1	0	0	1
MAN2B2	0	0	1	0	0	1
MPI	0	0	1	0	0	1
NUS1	1	0	0	0	0	1
SLC35A2	0	1	0	0	0	1
SLC35C1	0	0	1	0	0	1
SLC37A4	0	1	0	0	0	1
SSR3	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	238	64	41	343
Invitae	0	0	55	59	12	126
University of Washington Center for Mendelian Genomics, University of Washington	0	52	0	0	0	52
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	2	0	0	0	0	2
Center for Human Genetics, University of Leuven	2	0	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	0	0	1
Reproductive Health Research and Development, BGI Genomics	1	0	0	0	0	1
Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital	0	0	1	0	0	1
Research Laboratories, P. D. Hinduja Hospital & MRC	0	1	0	0	0	1

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