ClinVar Miner

Variants studied for autosomal recessive inherited pseudoxanthoma elasticum

Included ClinVar conditions (5):
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
90 120 150 12 32 2 387

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ABCC6 88 119 148 12 32 2 382
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
LOC102723692, XYLT1 0 0 1 0 0 0 1
XYLT2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PXE International 73 114 145 7 31 0 370
OMIM 25 0 0 0 0 0 25
Fulgent Genetics,Fulgent Genetics 5 0 2 0 0 0 7
Reproductive Health Research and Development,BGI Genomics 0 1 1 4 1 0 7
Mendelics 2 2 0 0 2 0 6
Baylor Genetics 3 0 1 1 0 0 5
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
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Medical Genetics UMG,Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 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 Fairview: 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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