ClinVar Miner

Variants studied for uterine disorder

Included ClinVar conditions (62):
Minimum submission review status: Collection method:
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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 affects association not provided total
272 288 1356 78 44 2 36 120 2153

Gene and significance breakdown #

Total genes and gene combinations: 85
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association not provided total
MSH6 137 129 656 15 5 0 0 0 935
MSH3 8 101 352 2 0 0 0 0 461
NLRP7 8 1 60 8 8 0 0 41 112
NCR1, NLRP7 8 5 28 6 7 0 0 69 109
MLH3 1 1 81 3 0 0 0 0 86
DHFR, MSH3 0 15 54 1 1 0 0 0 71
CDH1 8 4 47 10 1 0 0 1 70
PMS2 14 3 8 8 16 0 0 0 49
FGFR3 13 0 14 5 1 0 0 0 33
MED12 0 0 0 0 0 0 28 0 28
MSH2 9 2 4 5 1 0 0 0 21
MLH1 8 0 2 2 1 0 0 0 13
BRCA2 7 0 3 1 0 0 0 0 11
LOC126807437, MSH3 0 3 7 0 0 0 0 0 10
BRCA1 6 0 1 1 0 0 0 0 8
MEI1 3 2 3 1 0 0 0 0 8
PALB2 2 0 2 4 0 0 0 0 8
PTEN 4 1 1 0 0 0 2 0 8
ATM 4 0 2 0 0 0 0 0 6
KHDC3L 4 1 1 0 1 0 0 0 6
​intergenic 1 1 3 0 0 0 0 0 5
CHEK2 3 0 2 0 0 0 0 0 5
LOC129933707, MSH6 0 0 4 0 0 0 0 0 4
APC 0 0 2 0 0 0 1 0 3
ATM, C11orf65 1 0 1 1 0 0 0 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
TOP6BL 2 1 1 0 0 0 0 0 3
TP53 1 0 0 1 0 0 1 0 3
BRIP1 1 0 0 1 0 0 0 0 2
CC2D2A 2 0 0 0 0 0 0 0 2
DYNC2H1 2 0 0 0 0 0 0 0 2
FGFR2 2 0 0 0 0 0 0 0 2
GALC 0 2 0 0 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
PKHD1 1 0 1 0 0 0 0 0 2
RAD51C 1 1 0 0 0 0 0 0 2
TMEM67 0 2 0 0 0 0 0 0 2
XDH 0 0 2 0 0 0 0 0 2
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
ABCC5, ABCF3, ALG3, AP2M1, B3GNT5, C3orf70, CAMK2N2, CHRD, CLCN2, DVL3, ECE2, EEF1AKMT4, EEF1AKMT4-ECE2, EHHADH, EIF2B5, EIF2B5-DT, EIF4G1, EPHB3, FAM131A, HTR3C, HTR3D, HTR3E, IGF2BP2, KLHL24, KLHL6, LAMP3, LINC01839, LINC01840, LINC02054, LINC02069, LIPH, LOC107986163, LOC112935913, LOC121048724, LOC121048725, LOC121725166, LOC123453200, LOC123453201, LOC123453202, LOC123453203, LOC123464470, LOC123464471, LOC123464472, LOC123464473, LOC123464474, LOC126806886, LOC126806887, LOC126806888, LOC126806889, LOC126806890, LOC126806891, LOC126806892, LOC126806893, LOC126806894, LOC126806895, LOC126806896, LOC129389185, LOC129389186, LOC129389187, LOC129389188, LOC129938008, LOC129938009, LOC129938010, LOC129938011, LOC129938012, LOC129938013, LOC129938014, LOC129938015, LOC129938016, LOC129938017, LOC129938018, LOC129938019, LOC129938020, LOC129938021, LOC129938022, LOC129938023, LOC129938024, LOC129938025, LOC129938026, LOC129938027, LOC129938028, LOC129938029, LOC129938030, LOC129938031, LOC129938032, LOC129938033, LOC129938034, LOC129938035, LOC129938036, LOC129938037, LOC129938038, LOC129938039, LOC129938040, LOC129938041, LOC129938042, LOC129938043, LOC129938044, LOC129938045, LOC129938046, LOC129938047, LOC129938048, LOC129938049, LOC129938050, LOC129938051, LOC129938052, LOC129938053, LOC129938054, LOC129938055, LOC129938056, LOC129938057, LOC129938058, LOC129938059, LOC129938060, LOC129938061, LOC129938062, LOC129938063, LOC129938064, LOC129938065, LOC129938066, LOC129938067, LOC129938068, LOC129938069, LOC129938070, LOC129938071, LOC129938072, LOC129938073, LOC129938074, LOC129938075, LOC129938076, LOC129938077, LOC129938078, LOC129938079, LOC129938080, LOC129938081, LOC129938082, MAGEF1, MAP3K13, MAP6D1, MCCC1, MCF2L2, MIR1224, MIR4448, MIR5588, PARL, POLR2H, PSMD2, SENP2, SNHG33, SNORA63D, SNORA63E, SNORD66, THPO, TMEM41A, VPS8, VWA5B2, YEATS2 1 0 0 0 0 0 0 0 1
ADCY3, CENPO, DNAJC27, DNMT3A, DTNB, EFR3B, NCOA1, POMC, PTRHD1 0 0 1 0 0 0 0 0 1
ADD1, ADRA2C, ATP5ME, C4orf48, CPLX1, CRIPAK, CTBP1, DGKQ, DOK7, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GRK4, HAUS3, HGFAC, HTT, IDUA, LETM1, LRPAP1, MAEA, MFSD10, MSANTD1, MXD4, MYL5, NAT8L, NELFA, NKX1-1, NOP14, NSD2, PCGF3, PDE6B, PIGG, POLN, RGS12, RNF212, RNF4, SH3BP2, SLBP, SLC26A1, SLC49A3, SPON2, TACC3, TMEM129, TMEM175, TNIP2, UVSSA, ZFYVE28, ZNF721 1 0 0 0 0 0 0 0 1
ADRA2B, ANKRD23, ANKRD36, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM4, DUSP2, FAHD2B, FAM178B, FER1L5, ITPRIPL1, KANSL3, LMAN2L, NCAPH, SEMA4C, SNRNP200, STARD7, TMEM127 1 0 0 0 0 0 0 0 1
AGPAT2, C9orf163, DIPK1B, EGFL7, MIR126, NOTCH1, SEC16A 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
ARID5B 0 0 1 0 0 0 0 0 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
CHL1, CNTN4, CNTN6, CRBN, IL5RA, LRRN1, SETMAR, TRNT1 0 1 0 0 0 0 0 0 1
CTNNB1, LOC126806658 0 0 0 0 0 0 1 0 1
DDX23 0 1 0 0 0 0 0 0 1
DLX3 0 1 0 0 0 0 0 0 1
DNM3, DNM3OS, MIR199A2, MIR214, MIR3120 0 1 0 0 0 0 0 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
FH 0 1 0 0 0 0 0 0 1
GRIN2B 0 1 0 0 0 0 0 0 1
HDAC8 1 0 0 0 0 0 0 0 1
HMGA2 0 0 1 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
INF2 0 0 1 0 0 0 0 0 1
KIR3DL1, NLRP7 0 0 1 0 0 0 0 1 1
LOC129390903, RAD51C 0 0 1 0 0 0 0 0 1
LSM1 0 0 1 0 0 0 0 0 1
MFSD2A 1 0 0 0 0 0 0 0 1
NGLY1 0 0 1 0 0 0 0 0 1
NIPBL 0 1 0 0 0 0 0 0 1
OPHN1 0 1 0 0 0 0 0 0 1
PNPO 1 0 0 0 0 0 0 0 1
POLE 0 0 0 0 1 0 0 0 1
PTCH1 0 0 1 0 0 0 0 0 1
RPL17, RPL17-C18orf32 0 1 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: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association not provided total
Baylor Genetics 108 230 976 1 0 0 0 0 1315
Fulgent Genetics, Fulgent Genetics 36 23 299 32 7 0 0 0 397
Department of Pathology and Laboratory Medicine, Sinai Health System 46 7 38 28 20 0 0 0 139
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 33 0 0 0 0 0 0 0 33
Rajkovic Lab, University of Pittsburgh 0 0 0 0 0 0 28 0 28
Centre for Mendelian Genomics, University Medical Centre Ljubljana 10 8 8 1 0 0 0 0 27
Juno Genomics, Hangzhou Juno Genomics, Inc 7 3 4 0 0 0 0 0 14
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 1 0 2 3 6 0 0 0 12
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
Neuberg Centre For Genomic Medicine, NCGM 0 1 6 0 0 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 5 0 0 0 0 0 7
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
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 1 2 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 0 0 4
Medical Genetics Laboratory, CHRU Nancy 2 2 0 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 1 2 0 0 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 0 0 2
Revvity Omics, Revvity 1 0 1 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 1 0 0 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 2 0 0 0 0 0 2
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 2 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
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
Yatsenko Laboratory, Magee-Womens Research Institute, University of Pittsburgh 0 1 0 1 0 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 0 1
Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), Unidad de Investigacion Traslacional (UIT), Hospital de Niños Dr. Ricardo Gutiérrez 1 0 0 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 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
Wendy Chung Laboratory, Columbia University Medical Center 0 0 1 0 0 0 0 0 1
ACT Genomics, 0 0 0 1 0 0 0 0 1
Human Genetics Department, Tarbiat Modares University 1 0 0 0 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 0 0 1 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 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
Dr.Nikuei Genetic Center 0 1 0 0 0 0 0 0 1

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