ClinVar Miner

Variants studied for female reproductive organ cancer

Included ClinVar conditions (52):
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 association established risk allele not provided total
558 751 1483 125 418 2 1 19 3310

Gene and significance breakdown #

Total genes and gene combinations: 156
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele not provided total
MSH6 142 133 656 15 16 0 0 0 949
MSH3 8 101 352 2 0 0 0 0 461
TP53 98 137 2 1 0 0 0 2 234
BRIP1 26 40 107 35 11 0 0 2 214
BRCA1 75 11 3 2 4 0 0 0 95
MLH3 1 5 81 3 6 0 0 0 95
BRCA2 41 14 12 2 14 0 0 0 81
CDH1 9 7 47 10 4 0 0 1 76
DHFR, MSH3 0 15 54 1 1 0 0 0 71
PMS2 14 7 8 9 23 0 0 0 61
ERBB2 1 0 35 0 0 0 0 2 38
FGFR3 13 0 14 5 1 0 0 1 34
MSH2 12 5 7 5 5 0 0 0 34
PIK3CA 11 8 16 0 0 0 0 1 34
PRKN 10 10 9 5 3 0 0 0 34
PTEN 16 10 3 0 1 1 0 0 30
PALB2 1 3 8 7 6 0 0 1 26
RECQL4 0 12 0 0 14 0 0 0 26
APC 0 7 2 0 14 0 0 0 23
ATM 6 0 6 1 8 0 0 0 21
RAD51C 11 7 3 0 1 0 0 0 21
MLH1 8 0 3 2 6 0 0 0 19
MT-CYB 0 19 0 3 1 0 0 0 19
ATM, C11orf65 2 3 6 1 6 0 0 0 18
TSC2 0 11 0 0 7 0 0 0 18
AKT1 1 0 13 1 0 0 0 0 15
ALK 0 5 0 0 10 0 0 0 15
AR 0 8 0 0 7 0 0 0 15
BARD1 1 5 3 1 5 0 0 0 15
BRCA1, LOC126862571 13 2 0 0 0 0 0 0 15
MUC16 0 15 0 0 0 0 0 0 15
CHEK2 6 0 8 0 0 0 0 0 14
RET 0 4 0 0 10 0 0 0 14
EGFR 0 4 0 0 6 0 0 3 13
RAD51D, RAD51L3-RFFL 9 3 0 0 0 0 0 1 13
WRN 0 4 0 0 9 0 0 0 13
BLM 1 3 0 0 8 0 0 0 12
DICER1 0 4 0 0 8 0 0 0 12
FLCN 0 4 0 0 8 0 0 0 12
PDGFRA 0 5 0 0 6 0 0 0 11
PTCH1 0 4 0 0 7 0 0 0 11
LOC126807437, MSH3 0 3 7 0 0 0 0 0 10
TSHR 0 6 0 0 4 0 0 0 10
AXIN2 0 3 0 0 6 0 0 0 9
BIVM-ERCC5, ERCC5 0 5 0 0 4 0 0 0 9
EXT1 0 2 0 0 6 0 0 0 8
FANCA 0 2 0 0 6 0 0 0 8
FANCG 0 2 0 0 6 0 0 0 8
KIT 0 2 0 0 6 0 0 0 8
MSR1 0 5 0 0 3 0 0 0 8
PMS1 0 2 0 0 6 0 0 0 8
STK11 0 0 1 3 4 0 0 0 8
TSC1 0 1 0 0 7 0 0 0 8
ERCC3 0 1 0 0 6 0 0 0 7
EXT2 0 4 0 0 3 0 0 0 7
MET 0 2 0 0 5 0 0 0 7
RB1 0 3 1 0 3 0 0 0 7
AOPEP, FANCC 0 4 1 0 1 0 0 0 6
ELAC2 0 2 0 0 4 0 0 0 6
ERCC4 0 2 0 0 4 0 0 0 6
FANCD2, LOC107303338 0 4 0 0 2 0 0 0 6
MRE11 0 1 1 0 4 0 0 0 6
NBN 2 2 0 0 2 0 0 0 6
FANCE 0 2 0 0 3 0 0 0 5
FH 0 5 0 0 0 0 0 0 5
MAP3K1 4 1 0 0 0 0 0 0 5
NF1 0 0 0 0 5 0 0 0 5
RAD50 0 1 0 0 4 0 0 0 5
RNASEL 0 2 0 0 3 0 0 0 5
XPC 0 3 0 0 2 0 0 0 5
BUB1B 0 1 0 0 3 0 0 0 4
CDKN1B 0 2 0 0 2 0 0 0 4
CTNNB1, LOC126806658 2 1 0 1 0 0 0 0 4
CTNNB1, LOC126806659 2 0 1 1 0 0 0 0 4
ERCC2 0 3 0 0 1 0 0 0 4
HMMR 0 2 0 0 2 0 0 0 4
KRAS 1 0 0 0 0 0 0 3 4
LOC129933707, MSH6 0 0 4 0 0 0 0 0 4
MT-TT 0 4 2 0 0 0 0 0 4
POLD1 0 0 1 3 0 0 0 0 4
POLE 1 0 0 1 1 0 1 0 4
TRIM24 0 1 0 0 3 0 0 0 4
FANCD2, FANCD2OS 0 1 0 0 2 0 0 0 3
FANCF 0 1 0 0 2 0 0 0 3
LOC107982234, WT1 0 1 0 0 2 0 0 0 3
LOC129390903, RAD51C 0 1 1 0 1 0 0 0 3
MUTYH 2 0 0 0 1 0 0 0 3
MXI1 0 2 0 0 1 0 0 0 3
NTRK1 0 3 0 0 0 0 0 0 3
RAD50, TH2LCRR 0 1 0 0 2 0 0 0 3
SDHAF2 0 1 0 0 2 0 0 0 3
SDHB 0 0 0 0 3 0 0 0 3
TRIM33 0 0 0 0 3 0 0 0 3
CDKN2A 0 1 0 0 1 0 0 0 2
CTNNB1 0 0 0 2 0 0 0 0 2
CYLD 0 0 0 0 2 0 0 0 2
FANCA, ZNF276 0 1 0 0 1 0 0 0 2
FANCE, LOC129996245 0 0 0 0 2 0 0 0 2
FGFR2 2 0 0 0 0 0 0 0 2
HNF1A 0 1 0 0 1 0 0 0 2
HNF1B 0 1 0 0 1 0 0 0 2
KIF1B 0 1 0 0 1 0 0 0 2
KLC1, XRCC3 0 0 0 0 2 0 0 0 2
LOC110011216, PHOX2B 0 0 0 0 2 0 0 0 2
LOC126859871, PRKN 0 0 0 2 0 0 0 0 2
LOC130062899, STK11 0 0 1 1 0 0 0 0 2
RAD50, TH2-LCR, TH2LCRR 0 2 0 0 0 0 0 0 2
SLC49A4 0 0 0 0 2 0 0 0 2
TMEM127 0 2 0 0 0 0 0 0 2
VHL 0 0 0 0 2 0 0 0 2
XPA 0 1 0 0 1 0 0 0 2
​intergenic 0 1 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
AR, LOC109504725 0 0 0 0 1 0 0 0 1
AREL1, MLH3 1 0 0 0 0 0 0 0 1
ARID1A 0 0 0 0 0 1 0 0 1
BIVM-ERCC5, ERCC5, LOC126861834 0 0 0 0 1 0 0 0 1
BMPR1A 0 1 0 0 0 0 0 0 1
BRAF 0 0 0 0 0 0 0 1 1
BUB1B, BUB1B-PAK6 0 0 0 0 1 0 0 0 1
C12orf43, HNF1A 0 0 0 0 1 0 0 0 1
CBL 0 1 0 0 0 0 0 0 1
CDC73 0 0 0 0 1 0 0 0 1
CDH1, LOC130059290 0 0 0 0 1 0 0 0 1
CDH1, TANGO6 0 1 0 0 0 0 0 0 1
CDK4, TSPAN31 0 0 0 0 1 0 0 0 1
CDKN2A, LOC130001603 1 0 0 0 0 0 0 0 1
DDB2, LOC126861205 0 0 0 0 1 0 0 0 1
EPCAM 0 0 0 0 1 0 0 0 1
ERCC4, LOC130058543 0 1 0 0 0 0 0 0 1
FANCC 0 0 1 0 0 0 0 0 1
FANCM 1 0 0 0 0 0 0 0 1
FGFR3, LOC116158483, LOC129992009, LOC129992010, LOC129992011, LOC129992012, TACC3 0 1 0 0 0 0 0 0 1
GATA3 0 0 0 0 0 0 0 1 1
GPC3 0 0 0 0 1 0 0 0 1
HRAS, LRRC56 0 0 0 0 1 0 0 0 1
LOC100507346, PTCH1 0 0 0 0 1 0 0 0 1
LOC126860438, NBN 0 0 1 0 0 0 0 0 1
LOC129931243, TRIM33 0 0 0 0 1 0 0 0 1
LOC129937389, SLC49A4 0 0 0 0 1 0 0 0 1
LOC129999452, TRIM24 0 0 0 0 1 0 0 0 1
LOC130061311, RAD51C 1 0 0 0 0 0 0 0 1
MEN1 0 0 0 0 1 0 0 0 1
NQO2 0 0 0 0 1 0 0 0 1
OPCML 1 0 0 0 0 0 0 0 1
PHB1 0 0 0 0 1 0 0 0 1
PHOX2B 0 0 0 0 1 0 0 0 1
PPM1D 0 1 0 0 0 0 0 0 1
RAD51 0 0 0 0 1 0 0 0 1
RRAS2 1 0 0 0 0 0 0 0 1
SDHC 0 0 0 0 1 0 0 0 1
SMARCA4 0 0 0 0 1 0 0 0 1
SMARCB1 0 1 0 0 0 0 0 0 1
WT1 0 0 0 0 1 0 0 0 1
XRCC3 0 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele not provided total
Baylor Genetics 108 230 975 1 0 0 0 0 1314
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 231 0 0 370 0 0 0 601
Fulgent Genetics, Fulgent Genetics 49 28 373 43 10 0 0 0 503
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 220 166 0 0 0 0 0 0 386
Department of Pathology and Laboratory Medicine, Sinai Health System 51 7 70 40 23 0 0 0 191
Counsyl 8 33 103 34 11 0 0 0 189
CZECANCA consortium 43 4 0 0 0 0 0 0 47
Department of Zoology Govt. MVM College 0 24 0 0 0 0 0 0 24
OMIM 19 0 0 0 0 0 0 0 19
3DMed Clinical Laboratory Inc 11 1 6 1 0 0 0 0 19
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 14 3 0 0 0 0 0 0 17
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University 0 15 0 0 0 0 0 0 15
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 0 0 14 14
University Health Network, Princess Margaret Cancer Centre 12 1 1 0 0 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 0 6 1 0 0 0 0 13
BRCAlab, Lund University 11 2 0 0 0 0 0 0 13
Juno Genomics, Hangzhou Juno Genomics, Inc 6 3 2 0 0 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 5 0 1 1 2 0 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 1 1 0 0 0 0 0 9
CSER _CC_NCGL, University of Washington 2 0 5 1 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 6 0 0 0 0 0 8
Mendelics 6 0 1 0 0 0 0 0 7
Leiden Open Variation Database 4 0 3 0 0 0 0 0 7
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 0 3 3 1 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 0 0 0 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 0 0 4 1 0 0 0 0 5
China-NCC-Department of Gynecologic Oncology, Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College 5 0 0 0 0 0 0 0 5
Solve-RD Consortium 0 5 0 0 0 0 0 0 5
GeneKor MSA 4 0 0 0 0 0 0 0 4
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 3 1 0 0 0 0 0 0 4
Western Connecticut Health Network, Rudy L. Ruggles Biomedical Research Institute 3 0 1 0 0 0 0 0 4
King Laboratory, University of Washington 3 0 0 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 2 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 3 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 1 0 1 0 0 0 0 0 2
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 1 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 0 0 0 0 0 0 2
Human Cancer Genomic Research, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 0 0 0 2
ACT Genomics, 0 0 1 1 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 2 0 0 0 0 0 0 0 2
Martignetti Lab, Icahn School of Medicine at Mount Sinai 0 0 0 0 0 2 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 0 0 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
Division of Medical Genetics, University of Washington 0 0 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 0 0 1
Swisher Lab, University of Washington 0 1 0 0 0 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 1 0 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 0 0 1
Gynecological Pathology Laboratory, Kaohsiung Medical University Chung-Ho Memorial Hospital 0 0 0 0 0 0 1 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
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 0 0 0 0 0 0 0 1

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