ClinVar Miner

Variants studied for Pseudoxanthoma elasticum

Coded as:
Minimum submission review status: Collection method:
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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
358 10 6 5 21 2 385

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ABCC6 356 9 5 5 21 2 381
ABCC1, ABCC6, CEP20, LOC112340382, LOC113939949, MYH11, NDE1 1 0 0 0 0 0 1
ABCC1, ABCC6, CEP20, LOC112340382, MYH11 1 0 0 0 0 0 1
ABCC2 0 1 0 0 0 0 1
XYLT2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PXE International 347 4 0 0 19 0 370
OMIM 25 0 0 0 0 0 25
Reproductive Health Research and Development,BGI Genomics 0 1 1 4 1 0 7
Mendelics 2 2 0 0 2 0 6
Sharon lab,Hadassah-Hebrew University Medical Center 2 3 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Genetic Services Laboratory,University of Chicago 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Baylor Genetics 0 0 0 1 0 0 1
Medical Genetics UMG,Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 1 0 0 0 0 0 1

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