ClinVar Miner

Variants studied for Peutz-Jeghers syndrome

Coded as:
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Gene type:
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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
224 67 979 822 84 6 1982

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 not provided total
STK11 203 63 872 756 77 6 1793
LOC130062899, STK11 7 3 96 65 6 0 161
ABCA7, ARHGAP45, ARID3A, CFD, CNN2, ELANE, GPX4, GRIN3B, KISS1R, MED16, POLR2E, R3HDM4, SBNO2, STK11, TMEM259, WDR18 4 0 2 0 0 0 6
CBARP, STK11 0 0 3 1 0 0 4
LOC110006317, LOC110006318, LOC121627843, LOC125371447, LOC130062896, LOC130062897, LOC130062898, LOC130062899, STK11 2 0 2 0 0 0 4
LOC110006318, STK11 2 1 1 0 0 0 4
LOC110006317, LOC110006318, LOC121627843, LOC125371447, LOC130062896, LOC130062897, LOC130062898, STK11 1 0 2 0 0 0 3
LOC130062895, STK11 0 0 1 0 1 0 2
ABCA7, ARHGAP45, ARID3A, ATP5F1D, AZU1, BSG, C2CD4C, CBARP, CDC34, CFD, CIRBP, CNN2, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GPX4, GRIN3B, GZMM, HCN2, KISS1R, MADCAM1, MED16, MIDN, MIER2, MISP, ODF3L2, PALM, PLPP2, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, R3HDM4, RNF126, SBNO2, SHC2, STK11, THEG, TMEM259, TPGS1, WDR18 1 0 0 0 0 0 1
LOC110006317, LOC110006318, LOC121627843, LOC125371447, LOC130062894, LOC130062895, LOC130062896, LOC130062897, LOC130062898, LOC130062899, STK11 1 0 0 0 0 0 1
LOC110006317, LOC121627843, LOC125371447, LOC130062896, LOC130062897, LOC130062898, STK11 1 0 0 0 0 0 1
LOC110006318, LOC130062899, STK11 1 0 0 0 0 0 1
LOC130062894, LOC130062895, STK11 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 186 25 753 759 42 0 1765
Genome-Nilou Lab 30 13 350 104 8 0 505
All of Us Research Program, National Institutes of Health 1 0 182 165 3 0 351
Myriad Genetics, Inc. 30 10 46 21 31 0 138
Illumina Laboratory Services, Illumina 0 0 83 11 27 0 121
Counsyl 0 2 59 56 1 0 118
Mendelics 2 1 22 19 4 0 48
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 7 12 0 19
OMIM 15 0 1 0 0 0 16
MGZ Medical Genetics Center 2 1 12 0 0 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 5 0 0 0 0 14
Database of Curated Mutations (DoCM) 0 10 0 0 0 0 10
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 9 0 0 0 9
Pathway Genomics 2 0 4 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 4 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Revvity Omics, Revvity 0 0 4 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 2 0 0 0 4
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 3 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 2 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 1
Zhongshan School of Medicine, Sun Yat-Sen University 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 1
National Molecular Genetics Centre of Cancer Research, N.N. Alexandrov National Cancer Centre of Belarus 1 0 0 0 0 0 1
Institutes of Biomedical Sciences, Shanxi University 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 1 0 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Department of Medical Genetics, Hue University of Medicine and Pharmacy 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Dr. Arun Seshachalam & Co, Dr. GVN Cancer Institute 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Barretos Cancer Hospital 0 1 0 0 0 0 1
Arcensus 1 0 0 0 0 0 1

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