ClinVar Miner

Variants studied for bone Paget disease

Included ClinVar conditions (10):
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
43 9 469 276 64 835

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SQSTM1 30 3 320 224 34 588
TNFRSF11A 0 0 65 19 10 94
TNFRSF11B 6 1 39 3 15 64
LOC129995449, SQSTM1 0 2 14 25 1 41
MRNIP, SQSTM1 0 0 14 3 2 19
LOC130062628, TNFRSF11A 3 0 5 2 1 11
LOC112997583, SQSTM1 0 1 7 0 1 9
ZNF687 2 1 3 0 0 4
ADAMTS2, C5orf60, CANX, CBY3, GRM6, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SQSTM1, ZNF354C, ZNF879 0 0 1 0 0 1
ADAMTS2, C5orf60, CANX, CBY3, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SQSTM1 0 0 1 0 0 1
COLEC10, TNFRSF11B 1 0 0 0 0 1
DOCK6 0 1 0 0 0 1
SAMD12, TNFRSF11B 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 28 5 310 233 32 608
Illumina Laboratory Services, Illumina 1 1 166 40 38 246
OMIM 15 0 0 0 0 15
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 4 2 6
Fulgent Genetics, Fulgent Genetics 0 0 3 2 0 5
Genome-Nilou Lab 0 0 0 0 5 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 2 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 3
Revvity Omics, Revvity 0 1 1 0 0 2
Mendelics 1 0 1 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Endocrinology, CHU de Quebec-Université Laval 0 1 0 0 0 1

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