Variants studied for hypertriglyceridemia

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	risk factor	total
8	5	8	1	5	5	28

Gene and significance breakdown #

Total genes and gene combinations: 11

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	total
CREB3L3	2	2	1	1	2	2	9
APOA5	2	2	3	0	0	2	7
CELA2A	4	0	0	0	0	0	4
intergenic	0	0	1	0	0	0	1
APOA5, LOC108491825	0	0	0	0	1	1	1
APOA5, ZPR1	0	1	0	0	0	0	1
CREB3L3, LOC125371455	0	0	0	0	1	0	1
GCKR	0	0	1	0	0	0	1
LIPI	0	0	1	0	0	0	1
LPL	0	0	1	0	0	0	1
RP1	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	total
OMIM	1	0	1	0	1	5	8
Fulgent Genetics, Fulgent Genetics	0	1	0	1	4	0	6
Mani Lab, Yale Cardiovascular Research Center, Yale University	4	0	0	0	0	0	4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	2	0	0	0	3
Institute of Human Genetics, University of Leipzig Medical Center	0	0	2	0	0	0	2
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation	1	1	0	0	0	0	2
New York Genome Center	0	0	2	0	0	0	2
Baylor Genetics	1	0	0	0	0	0	1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital	0	0	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	1	0	0	0	0	1
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile	1	0	0	0	0	0	1
DASA	0	1	0	0	0	0	1
Department of Human Genetics, Hannover Medical School	0	1	0	0	0	0	1

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