ClinVar Miner

Variants from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne with conflicting interpretations

Location: France  Primary collection method: clinical testing
Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
919 226 2 205 17 9 80 279

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne pathogenic likely pathogenic uncertain significance likely benign benign affects association established risk allele pathogenic, low penetrance protective risk factor other
pathogenic 1 91 24 2 3 2 0 0 1 1 0 1
likely pathogenic 112 1 29 1 2 0 0 0 0 1 0 1
uncertain significance 13 14 0 12 6 0 1 1 0 1 1 1
likely benign 6 1 4 0 5 0 0 0 0 1 0 1
benign 0 0 0 1 0 0 0 0 0 0 0 0
drug response 2 0 0 1 0 0 0 0 0 0 0 2

Submitter to submitter summary #

Total submitters: 179
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Invitae 0 95 0 39 8 2 11 58
OMIM 0 127 0 35 0 2 16 53
Institute of Human Genetics, University of Leipzig Medical Center 0 48 0 14 5 0 5 24
Revvity Omics, Revvity 0 27 0 19 0 0 3 22
Baylor Genetics 0 59 0 16 0 0 6 21
Illumina Laboratory Services, Illumina 0 30 0 8 9 0 6 21
GeneDx 0 10 0 15 2 1 2 18
3billion 0 55 0 15 0 0 1 16
Counsyl 0 17 0 9 1 0 5 15
CeGaT Center for Human Genetics Tuebingen 0 6 0 9 1 0 5 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 40 0 10 0 0 0 10
Fulgent Genetics, Fulgent Genetics 0 41 0 6 0 0 4 10
Genome-Nilou Lab 0 21 0 9 0 0 1 10
MGZ Medical Genetics Center 0 33 0 8 0 0 1 9
Natera, Inc. 0 18 0 8 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 14 0 7 0 0 1 8
Mendelics 0 25 0 4 2 0 1 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 40 0 5 0 0 2 7
SIB Swiss Institute of Bioinformatics 0 4 0 6 0 0 1 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 17 0 3 0 0 4 7
Neuberg Centre For Genomic Medicine, NCGM 0 13 0 4 0 0 3 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 5 0 5 1 0 1 6
Myriad Genetics, Inc. 0 19 0 4 2 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 13 0 5 0 0 2 6
Genetic Services Laboratory, University of Chicago 0 25 0 3 0 0 2 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 9 0 5 0 0 0 5
PreventionGenetics, part of Exact Sciences 0 6 0 3 1 0 2 5
Eurofins Ntd Llc (ga) 0 2 0 2 1 3 2 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 15 0 5 0 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 4 0 5 0 0 1 5
New York Genome Center 0 7 0 4 1 1 1 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 17 0 4 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 9 0 3 1 0 1 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 3 1 0 2 4
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 3 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 34 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 8 0 4 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 0 8 0 3 0 0 2 4
Genetics and Molecular Pathology, SA Pathology 0 14 0 4 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 15 0 4 1 0 1 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 3 1 0 1 4
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 3 0 3 0 0 1 4
Athena Diagnostics Inc 0 2 0 3 1 0 1 3
Centogene AG - the Rare Disease Company 0 15 0 3 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 3 1 0 1 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 7 0 2 0 1 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 3 0 0 1 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 2 0 3 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 4 0 2 0 0 1 3
Undiagnosed Diseases Network, NIH 0 7 0 2 1 0 2 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1418 3 0 3 1 0 1 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 6 0 3 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 7 0 2 0 0 2 3
Paris Brain Institute, Inserm - ICM 0 1 0 3 0 0 0 3
DASA 0 16 0 3 0 0 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 8 0 0 2 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 2 0 2 0 0 1 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 6 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 0 2 1 0 1 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 0 2
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 0 2 0 0 1 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 2 0 0 1 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 5 0 1 1 0 1 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 0 1 0 0 1 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 8 0 2 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 3 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 4 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 0 1 0 0 1 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 11 0 1 0 0 1 2
Johns Hopkins Genomics, Johns Hopkins University 0 11 0 2 0 0 0 2
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 0 0 0 0 2 0 2
Institute for Human Genetics, University Hospital Essen 0 1 0 2 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 0 2 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 2 0 0 1 2
Lifecell International Pvt. Ltd 0 5 0 2 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 6 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 7 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 5 0 1 0 0 1 2
Ambry Genetics 0 11 0 0 1 0 1 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 0 0 0 1 1
Institute of Human Genetics, University of Ulm 0 0 0 1 0 0 0 1
Sharing Clinical Reports Project (SCRP) 0 5 0 1 0 0 0 1
GeneReviews 0 51 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1 1
Blueprint Genetics 0 2 0 1 0 0 0 1
IIFP, CONICET-UNLP 0 0 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA2) 0 4 0 1 0 0 0 1
RettBASE 0 3 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 6 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 1 0 0 0 0 1 1
Center for Medical Genetics Ghent, University of Ghent 0 2 0 0 0 0 1 1
CHU Sainte-Justine Research Center, University of Montreal 0 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 0 1
Deafness Gene Diagnosis, Xijing Hospital 0 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 4 0 1 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 0 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 8 0 1 0 0 0 1
Neurogenetics of motion laboratory, Montreal Neurological Institute 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 4 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 6 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 0 1 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 1 0 0 1 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 2 0 1 0 0 0 1
Medical Biochemical Genetics, National Human Genome institute, NIH, National Institutes of Health 0 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 10 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 5 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 2 0 0 1 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 0 0 0 1 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 7 0 1 0 0 0 1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 6 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 1 1 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 1 1 0 1 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 1 0 0 1 1
Flegel Lab, National Institutes of Health 0 0 0 1 0 0 1 1
Genetics Department, University Hospital of Toulouse 0 0 0 1 0 0 1 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 2 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 3 0 1 0 0 1 1
ClinGen PAH Variant Curation Expert Panel 0 3 0 1 0 0 0 1
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 1 0 1 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 1 1 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 1 0 0 1 0 1 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 0 0 0 0 0 1 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 4 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 1 0 0 0 1
Genesis Genome Database 0 0 0 0 0 0 1 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 10 0 1 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 0 1 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 5 0 1 0 0 0 1
Rare Disease Group, University of Exeter 0 1 0 1 0 0 1 1
Central Laboratory, The First Hospital of Lanzhou University 0 0 0 1 0 0 1 1
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 0 0 0 0 1 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 0 0 1 0 0 1 1
GenomeConnect - Simons Searchlight 0 5 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 0 1 0 0 0 1
Genetics Department, University Hospital of Angers 0 0 0 1 0 0 0 1
Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax 0 0 0 1 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 1 0 0 0 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 1 0 0 1 1
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 0 0 0 0 0 0 1 1
Cytogenetics, Genetics Associates, Inc. 0 0 0 1 0 0 1 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 0 0 1 0 0 0 1
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 0 1 0 0 0 0 1 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 1 0 0 0 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 1 0 0 1 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 4 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 0 0 1 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 279
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
CYP2C9*2 rs1799853 0.08975
CYP2C9*3 rs1057910 0.04900
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His) rs104894951 0.00126
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952 0.00041
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983 0.00034
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser) rs150932144 0.00034
NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser) rs113718290 0.00030
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro) rs200530055 0.00029
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg) rs201428088 0.00029
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427 0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_020191.4(MRPS22):c.509G>A (p.Arg170His) rs119478059 0.00012
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) rs762114560 0.00007
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) rs375661404 0.00007
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met) rs148412181 0.00006
NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln) rs780538558 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000531.6(OTC):c.148G>A (p.Gly50Arg) rs67486158 0.00005
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286 0.00003
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg) rs748436953 0.00003
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_003184.4(TAF2):c.2531C>T (p.Pro844Leu) rs750451843 0.00002
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912 0.00002
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) rs202238194 0.00002
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) rs778050996 0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104 0.00002
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter) rs397507634 0.00001
NM_000181.4(GUSB):c.1145G>A (p.Arg382His) rs764018631 0.00001
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821 0.00001
NM_000317.3(PTS):c.78G>T (p.Leu26Phe) rs1317230624 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000755.5(CRAT):c.962G>A (p.Arg321His) rs138665095 0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs) rs967826828 0.00001
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961 0.00001
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646 0.00001
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser) rs769218623 0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter) rs745993071 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr) rs1424516740 0.00001
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209 0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_053025.4(MYLK):c.901C>T (p.Gln301Ter) rs545515041 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-ND1):m.1494C>T rs267606619
NC_012920.1(MT-ND1):m.1555A>G rs267606617
NC_012920.1(MT-ND3):m.10197G>A rs267606891
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs) rs763462603
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) rs866706988
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys) rs397515624
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu) rs201660407
NM_000478.6(ALPL):c.1333T>C (p.Ser445Pro) rs1553415041
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly) rs2146717703
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811
NM_001032221.6(STXBP1):c.325+2_325+3del rs1554776853
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001042492.3(NF1):c.590C>G (p.Thr197Arg) rs1597658021
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn) rs1553956958
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) rs1555710726
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) rs267608382
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys) rs886039429
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs) rs753324947
NM_001242896.3(DEPDC5):c.232del (p.Arg78fs) rs2082695884
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.673C>T (p.Arg225Ter) rs1057518991
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val) rs2142884433
NM_001347721.2(DYRK1A):c.1213-2A>G rs1601315812
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs) rs1602131859
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp) rs1553567473
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs) rs1583513256
NM_001375524.1(TRRAP):c.3127G>A (p.Ala1043Thr) rs1562945106
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn) rs1568763104
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) rs766020802
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001655.5(ARCN1):c.654-15A>G rs1591385240
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs) rs1555264243
NM_003011.4(SET):c.130_133del (p.Arg44fs) rs1554776342
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003086.4(SNAPC4):c.2527+1G>A
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003309.4(TSPYL1):c.725_726del (p.Val242fs) rs775957625
NM_003470.3(USP7):c.2596C>T (p.Gln866Ter) rs2141167019
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004044.7(ATIC):c.406G>A (p.Ala136Thr) rs1575116846
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser) rs1064794963
NM_004429.5(EFNB1):c.499+1G>A rs1556107481
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) rs1984243311
NM_005052.3(RAC3):c.191A>G (p.Tyr64Cys) rs2043443851
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005262.3(GFER):c.219del (p.Cys74fs) rs1597063051
NM_005262.3(GFER):c.259-25_259-24del rs1597063303
NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr) rs1603217815
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005862.3(STAG1):c.659A>G (p.His220Arg) rs1057519153
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg) rs1057517991
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys) rs1057521924
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) rs1724343994
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro) rs1762136390
NM_006513.4(SARS1):c.638G>T (p.Arg213Leu) rs539161490
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006593.4(TBR1):c.1118A>G (p.Gln373Arg) rs1553510492
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.3661C>T (p.Arg1221Trp) rs2151199464
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_006950.3(SYN1):c.1439dup (p.Leu481fs) rs1556857481
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp) rs879255685
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter) rs1597461100
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter) rs2034353033
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp) rs2033536147
NM_013275.6(ANKRD11):c.7618C>T (p.Arg2540Trp) rs1555523386
NM_013275.6(ANKRD11):c.7736G>A (p.Arg2579His)
NM_013450.4(BAZ2B):c.2105dup (p.Ser703fs)
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) rs1589088690
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_014423.4(AFF4):c.758C>T (p.Pro253Leu)
NM_014423.4(AFF4):c.761C>G (p.Thr254Ser) rs786205679
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp) rs786205680
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_016032.4(ZDHHC9):c.496G>A (p.Asp166Asn) rs2124105757
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs) rs775657157
NM_017646.6(TRIT1):c.334del (p.Arg112fs) rs536000212
NM_017654.4(SAMD9):c.2945G>A (p.Arg982His) rs1554336974
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter) rs1563625351
NM_017780.4(CHD7):c.7164+1G>A rs2129644267
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018297.4(NGLY1):c.1481_1488del (p.His494fs) rs1575612023
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu) rs1057522978
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020975.6(RET):c.1879+1G>A rs1588873476
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer) rs886039767
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr) rs1554204921
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) rs587784200
NM_022893.4(BCL11A):c.154C>T (p.Gln52Ter) rs886037868
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_024339.5(THOC6):c.135C>A (p.Tyr45Ter) rs772533643
NM_024577.4(SH3TC2):c.3676-8G>A rs772823083
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter) rs1588553447
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_078480.3(PUF60):c.1381-2A>G rs1057518681
NM_078480.3(PUF60):c.24+1G>C rs1064795388
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter) rs1554227215
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs) rs1554581504
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_152641.4(ARID2):c.400dup (p.Gln134fs) rs2138082983
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578
NM_182931.3(KMT2E):c.1099_1103dup (p.Glu369fs) rs1797574932
Single allele

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