ClinVar Miner

Variants studied for PI4KA-related disorder

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 total
19 12 23 32 26 109

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PI4KA 17 12 23 32 26 107
PAH 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
PreventionGenetics, part of Exact Sciences 0 3 3 32 6 44
Genome-Nilou Lab 0 0 0 0 20 20
OMIM 14 0 0 0 0 14
Baylor Genetics 1 0 6 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 3 0 0 4
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 4 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 0 2
3billion 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Mendelics 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 1
DASA 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1

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