ClinVar Miner

Variants studied for endometrial disorder

Included ClinVar conditions (17):
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 affects association not provided total
203 261 1073 56 27 2 8 11 1635

Gene and significance breakdown #

Total genes and gene combinations: 48
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association not provided total
MSH6 132 123 621 14 5 0 0 0 892
MSH3 7 98 331 2 0 0 0 1 439
DHFR, MSH3 0 15 48 1 1 0 0 0 65
PMS2 14 2 9 8 16 0 0 0 49
CDH1 8 2 18 10 1 0 0 1 39
MSH2 7 1 4 5 1 0 0 0 18
MLH3 1 1 9 3 0 0 0 0 14
MLH1 8 0 2 2 1 0 0 0 13
FGFR2 2 10 0 0 0 0 0 0 10
LOC126807437, MSH3 0 2 7 0 0 0 0 0 9
BRCA2 4 0 3 1 0 0 0 0 8
BRCA1 5 0 1 1 0 0 0 0 7
PTEN 4 0 1 0 0 0 2 0 7
PALB2 0 0 2 4 0 0 0 0 6
ATM 3 0 2 0 0 0 0 0 5
CHEK2 2 0 2 0 0 0 0 0 4
CTNNB1, LOC126806658 0 3 0 0 0 0 1 0 4
LOC129933707, MSH6 0 0 4 0 0 0 0 0 4
APC 0 0 2 0 0 0 1 0 3
EGFR 0 0 0 0 0 0 0 3 3
KRAS 0 0 0 0 0 0 1 2 3
POLD1 0 0 1 2 0 0 0 0 3
ATM, C11orf65 0 0 1 1 0 0 0 0 2
MUTYH 2 0 0 0 0 0 0 0 2
PIK3CA 0 1 0 0 0 0 0 1 2
TP53 0 0 0 1 0 0 1 0 2
​intergenic 0 0 1 0 0 0 0 0 1
ABCA3, BRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, LOC112340386, LOC112340387, LOC129390754, LOC130058211, LOC130058212, LOC130058213, LOC130058214, LOC130058215, LOC130058216, LOC130058217, LOC130058218, LOC130058219, LOC130058220, LOC130058221, LOC130058222, LOC130058223, LOC130058224, LOC130058225, LOC130058226, LOC130058227, LOC130058228, MIR1225, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR6511B1, MIR940, MLST8, PGP, PKD1, RAB26, RNPS1, SNHG19, SNORD60, TRAF7, TSC2 0 0 1 0 0 0 0 0 1
ALK, ARHGEF33, ATL2, BIRC6, CAPN13, CAPN14, CDC42EP3, CDKL4, CEBPZ, CRIM1, CYP1B1, DHX57, DPY30, EHD3, EIF2AK2, EML4, FAM98A, FEZ2, GALM, GALNT14, GEMIN6, GPATCH11, HEATR5B, HNRNPLL, LBH, LCLAT1, LINC02898, LTBP1, MAP4K3, MEMO1, MORN2, NDUFAF7, NLRC4, PKDCC, PRKD3, QPCT, RASGRP3, RMDN2, SLC30A6, SLC8A1, SOS1, SOS1-IT1, SPAST, SRD5A2, SRSF7, STRN, SULT6B1, THUMPD2, TMEM178A, TTC27, VIT, XDH, YIPF4, YPEL5 0 1 0 0 0 0 0 0 1
AREL1, MLH3 1 0 0 0 0 0 0 0 1
ARID1A 0 0 0 0 0 0 1 0 1
ATR 0 0 0 0 0 0 0 1 1
BARD1 1 0 0 0 0 0 0 0 1
BLM 1 0 0 0 0 0 0 0 1
BRAF 0 0 0 0 0 0 0 1 1
CDH1, LOC130059290 0 0 0 0 1 0 0 0 1
CDH1, TANGO6 0 1 0 0 0 0 0 0 1
CDKN2A 0 0 0 0 0 0 1 0 1
ERBB2 0 0 0 0 0 0 0 1 1
FAM163A 0 0 1 0 0 0 0 0 1
FGFR3, LOC116158483, LOC129992009, LOC129992010, LOC129992011, LOC129992012, TACC3 0 1 0 0 0 0 0 0 1
IL1B 0 0 0 0 0 1 0 0 1
IL1F10, IL1RN, IL36A, IL36B, IL36G, IL36RN, LOC112806039, LOC122817730, LOC126806315, LOC129934600, LOC129934601, LOC129934602, LOC129934603 0 0 1 0 0 0 0 0 1
LOC129390903, RAD51C 0 0 1 0 0 0 0 0 1
POLE 0 0 0 0 1 0 0 0 1
RAD51C 1 0 0 0 0 0 0 0 1
STK11 0 0 0 1 0 0 0 0 1
TNF 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association not provided total
Baylor Genetics 108 230 975 1 0 0 0 0 1314
Department of Pathology and Laboratory Medicine, Sinai Health System 46 6 39 27 20 0 0 0 138
Fulgent Genetics, Fulgent Genetics 19 5 77 25 6 0 0 0 132
CZECANCA consortium 31 1 0 0 0 0 0 0 32
Database of Curated Mutations (DoCM) 0 13 0 0 0 0 0 1 14
OMIM 10 0 0 0 0 0 0 0 10
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 0 0 8 8
Martignetti Lab, Icahn School of Medicine at Mount Sinai 0 0 0 0 0 0 8 0 8
Mendelics 6 0 1 0 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 4 1 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 5 0 0 0 0 0 6
Centogene AG - the Rare Disease Company 1 2 0 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 0 0 0 3
Precision Medicine Oncology, Rutgers Cancer Institute of New Jersey 0 2 1 0 0 0 0 0 3
Laboratorio de Investigación del Departamento de Salud, Universidad Iberoamericana A.C. 0 0 1 0 0 2 0 0 3
CSER _CC_NCGL, University of Washington 1 0 0 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 0 2
Western Connecticut Health Network, Rudy L. Ruggles Biomedical Research Institute 2 0 0 0 0 0 0 0 2
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 0 0 2 0 0 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 0 1
Department of Pathology, Brigham and Women's Hospital 0 1 0 0 0 0 0 0 1
ACT Genomics, 0 0 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 1 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 1 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 1 0 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 1

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