Variants studied for female reproductive system neoplasm

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
586	1095	1353	139	434	30	1	134	3680

Gene and significance breakdown #

Total genes and gene combinations: 190

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	established risk allele	not provided	total
MSH6	141	130	621	14	16	0	0	0	911
MSH3	7	98	331	2	0	0	0	1	439
TP53	98	265	2	1	0	0	0	2	361
BRIP1	26	40	107	35	11	0	0	2	214
NLRP7	8	1	60	8	8	0	0	41	112
NCR1, NLRP7	8	5	28	6	7	0	0	69	109
BRCA1	75	11	3	2	4	0	0	0	95
BRCA2	41	14	12	2	14	0	0	0	81
DHFR, MSH3	0	15	48	1	1	0	0	0	65
PMS2	14	7	8	9	23	0	0	0	61
PIK3CA	12	52	3	0	0	0	0	1	57
CDH1	9	5	18	10	4	0	0	1	45
MSH2	12	5	7	5	5	0	0	0	34
PTEN	17	14	3	0	1	1	0	0	33
FGFR3	11	0	13	5	1	0	0	1	31
CTNNB1, LOC126806658	2	28	0	1	0	0	0	0	30
MED12	0	0	0	0	0	28	0	0	28
PALB2	2	3	8	7	6	0	0	1	27
PRKN	5	7	8	5	3	0	0	0	26
RECQL4	0	12	0	0	14	0	0	0	26
MLH3	1	5	9	3	6	0	0	0	24
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
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
FBXW7	0	15	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
ERBB2	1	12	0	0	0	0	0	2	14
FGFR2	2	14	0	0	0	0	0	0	14
HRAS, LRRC56	0	13	0	0	1	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
PTCH1	0	4	1	0	7	0	0	0	12
NRAS	0	11	0	0	0	0	0	0	11
PDGFRA	0	5	0	0	6	0	0	0	11
BRAF	2	7	0	0	0	0	0	1	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
KRAS	6	1	0	0	0	0	0	3	9
LOC126807437, MSH3	0	2	7	0	0	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
MEI1	3	2	3	1	0	0	0	0	8
MSR1	0	5	0	0	3	0	0	0	8
NFE2L2	0	8	0	0	0	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
POLE	1	4	0	1	1	0	1	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
FH	0	6	0	0	0	0	0	0	6
KHDC3L	4	1	1	0	1	0	0	0	6
MRE11	0	1	1	0	4	0	0	0	6
NBN	2	2	0	0	2	0	0	0	6
B2M	0	5	0	0	0	0	0	0	5
ERBB3	0	5	0	0	0	0	0	0	5
FANCE	0	2	0	0	3	0	0	0	5
MAP3K1	4	1	0	0	0	0	0	0	5
MTOR	0	5	0	0	0	0	0	0	5
NF1	0	0	0	0	5	0	0	0	5
PPP2R1A	0	5	0	0	0	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
CREBBP	0	4	0	0	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
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
SMAD4	0	4	0	0	0	0	0	0	4
SPOP	0	4	0	0	0	0	0	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
GNAS	0	3	0	0	0	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
MAP2K1	0	3	0	0	0	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
RAC1	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
TOP6BL	2	1	1	0	0	0	0	0	3
TRIM33	0	0	0	0	3	0	0	0	3
XPO1	0	3	0	0	0	0	0	0	3
AKT1	1	1	0	1	0	0	0	0	2
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
EP300	0	2	0	0	0	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
GNAI2	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
PIK3R1	0	2	0	0	0	0	0	0	2
RAD50, TH2-LCR, TH2LCRR	0	2	0	0	0	0	0	0	2
RHEB	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
U2AF1	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
ABCB1	0	0	0	0	0	0	0	1	1
ABCG2	0	0	0	0	0	0	0	1	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
ATR	0	0	0	0	0	0	0	1	1
BIVM-ERCC5, ERCC5, LOC126861834	0	0	0	0	1	0	0	0	1
BMPR1A	0	1	0	0	0	0	0	0	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
DLX3	0	1	0	0	0	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
HMGA2	0	0	1	0	0	0	0	0	1
KIR3DL1, NLRP7	0	0	1	0	0	0	0	1	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
MAPK1	0	1	0	0	0	0	0	0	1
MEN1	0	0	0	0	1	0	0	0	1
MYCN, MYCNOS	0	1	0	0	0	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
SOS1	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: 77

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	established risk allele	not provided	total
Baylor Genetics	108	230	976	1	0	0	0	0	1315
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	0	231	0	0	370	0	0	0	601
Database of Curated Mutations (DoCM)	17	421	0	0	0	0	0	3	433
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne	220	166	0	0	0	0	0	0	386
Fulgent Genetics, Fulgent Genetics	37	8	99	43	10	0	0	0	197
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
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	0	0	0	0	0	0	0	111	111
Illumina Laboratory Services, Illumina	2	0	83	11	11	0	0	0	107
CZECANCA consortium	43	4	0	0	0	0	0	0	47
OMIM	42	0	0	0	0	0	0	0	42
Rajkovic Lab, University of Pittsburgh	0	0	0	0	0	28	0	0	28
Department of Zoology Govt. MVM College	0	24	0	0	0	0	0	0	24
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana	6	1	7	1	0	0	0	0	15
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
Juno Genomics, Hangzhou Juno Genomics, Inc	6	4	4	0	0	0	0	0	14
University Health Network, Princess Margaret Cancer Centre	12	1	1	0	0	0	0	0	14
BRCAlab, Lund University	11	2	0	0	0	0	0	0	13
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	1	0	2	3	6	0	0	0	12
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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	3	0	6	0	0	0	0	0	9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	7	1	0	0	0	0	0	0	8
CSER _CC_NCGL, University of Washington	2	0	5	1	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
Neuberg Centre For Genomic Medicine, NCGM	0	1	6	0	0	0	0	0	7
Genetics and Molecular Pathology, SA Pathology	1	0	4	1	0	0	0	0	6
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	1	4	0	0	0	5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	5	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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	3	1	0	0	0	0	0	0	4
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	2	0	0	0	0	0	3
GenomeConnect, ClinGen	0	0	0	0	0	0	0	3	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
Revvity Omics, Revvity	1	0	1	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
SIB Swiss Institute of Bioinformatics	0	1	1	0	0	0	0	0	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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	1	0	0	0	0	0	2
Medical Genetics Laboratory, Tarbiat Modares University	0	2	0	0	0	0	0	0	2
Molecular Genetics Lab, CHRU Brest	2	0	0	0	0	0	0	0	2
Yatsenko Laboratory, Magee-Womens Research Institute, University of Pittsburgh	0	1	0	1	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
Clinical Bioinformatic Lab, Royan Institute	0	1	0	0	0	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	0	1	0	0	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
Dr.Nikuei Genetic Center	0	1	0	0	0	0	0	0	1

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