ClinVar Miner

Variants from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego: Collection method of the submission from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego:
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
426 277 0 225 1 15 77 267

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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego pathogenic likely pathogenic uncertain significance likely benign benign association drug response established risk allele likely risk allele pathogenic, low penetrance protective risk factor other
pathogenic 0 144 26 3 3 2 1 0 1 1 1 4 5
likely pathogenic 81 0 48 2 1 0 0 1 0 0 0 1 0
uncertain significance 1 1 0 1 1 0 0 0 0 0 1 0 1

Submitter to submitter summary #

Total submitters: 155
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 0 163 0 35 0 2 19 56
GeneDx 0 128 0 25 1 0 8 32
OMIM 0 98 0 21 0 7 0 28
Revvity Omics, Revvity Omics 0 94 0 13 0 0 7 20
Counsyl 0 22 0 16 0 0 3 19
Baylor Genetics 0 88 0 12 0 0 4 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 71 0 11 0 0 5 16
Illumina Laboratory Services, Illumina 0 35 0 10 0 0 7 16
Preventiongenetics, part of Exact Sciences 0 30 0 9 0 0 3 12
Eurofins Ntd Llc (ga) 0 43 0 5 1 2 4 9
Fulgent Genetics, Fulgent Genetics 0 58 0 8 0 0 0 8
Broad Institute Rare Disease Group, Broad Institute 0 15 0 3 0 0 5 8
Ambry Genetics 0 26 0 3 0 0 4 7
Natera, Inc. 0 40 0 5 0 0 1 6
Mendelics 0 18 0 6 0 0 0 6
Color Diagnostics, LLC DBA Color Health 0 14 0 3 0 0 3 6
Institute of Human Genetics, University of Leipzig Medical Center 0 26 0 5 0 0 1 6
Genome-Nilou Lab 0 27 0 5 0 0 1 6
Genetic Services Laboratory, University of Chicago 0 40 0 4 0 0 1 5
MGZ Medical Genetics Center 0 22 0 5 0 0 0 5
LDLR-LOVD, British Heart Foundation 0 3 0 4 0 0 1 5
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 6 0 5 0 0 0 5
CeGaT Center for Human Genetics Tuebingen 0 54 0 4 1 0 1 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 38 0 5 0 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 12 0 4 1 0 1 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 29 0 4 1 0 1 5
Athena Diagnostics Inc 0 15 0 3 0 0 2 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 23 0 2 0 0 2 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 36 0 4 0 0 0 4
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 2 0 3 0 0 1 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 8 0 3 0 0 1 4
Robarts Research Institute, Western University 0 2 0 3 0 0 1 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 4 0 0 1 4
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 2 0 2 0 0 2 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 14 0 4 1 0 1 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 5 0 1 0 1 2 4
Fundacion Hipercolesterolemia Familiar 0 0 0 3 0 0 1 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 5 0 3 0 0 1 4
Myriad Genetics, Inc. 0 16 0 3 0 0 1 4
3billion 0 30 0 4 0 0 0 4
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 1 0 1 0 0 3 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 10 0 4 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 27 0 2 0 0 1 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 22 0 3 0 0 0 3
Centogene AG - the Rare Disease Company 0 17 0 3 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 19 0 2 0 0 1 3
CSER _CC_NCGL, University of Washington 0 1 0 1 0 0 2 3
Clinical Genetics and Genomics, Karolinska University Hospital 0 10 0 3 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 3 0 0 1 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 13 0 3 0 0 0 3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 2 0 0 1 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 7 0 3 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 0 3 0 1 0 0 2 3
Iberoamerican FH Network 0 1 0 2 0 0 1 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 27 0 3 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 10 0 3 0 0 0 3
Suma Genomics 0 4 0 1 0 0 2 3
Genomics England Pilot Project, Genomics England 0 4 0 3 0 0 0 3
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 6 0 2 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 3 0 1 0 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 36 0 2 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 2 0 0 0 0 2 2
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 4 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 8 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2 2
UCLA Clinical Genomics Center, UCLA 0 2 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 4 0 2 0 0 1 2
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 4 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 4 0 2 0 0 0 2
Neurogenetics Laboratory - MEYER, AOU Meyer 0 1 0 1 0 0 1 2
Undiagnosed Diseases Network, NIH 0 9 0 1 0 0 2 2
Genetics and Molecular Pathology, SA Pathology 0 21 0 2 0 0 0 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 5 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 31 0 2 0 0 0 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 0 0 2 0 0 0 2
deCODE genetics, Amgen 0 0 0 2 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 5 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 9 0 1 0 0 1 2
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 2 0 0 0 2
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 5 0 2 0 0 0 2
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 0 1 1 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 16 0 1 0 0 1 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 7 0 1 0 0 0 1
Claritas Genomics 0 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 6 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 5 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 36 0 1 0 0 1 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 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
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 15 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 0 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 1 1
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 0 0 0 1 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 8 0 1 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 13 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 3 0 0 0 1 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 1 0 0 1 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 4 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 11 0 0 0 0 1 1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 0 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 0 1 0 0 0 1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 1 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 966 3 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 2 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 0 0 0 1 1
Leiden Open Variation Database 0 2 0 0 0 0 1 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 0 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 21 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 2 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 6 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 0 0 1 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 1 0 0 1 0 1 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
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 0 4 0 0 0 1 0 1
CFTR-France 0 3 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 5 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 3 0 1 0 0 0 1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 4 0 0 0 0 1 1
Clinical Genomics Program, Stanford Medicine 0 2 0 0 0 0 1 1
Rare Disease Group, University of Exeter 0 0 0 1 0 0 1 1
Molecular Genetics laboratory, Necker Hospital 0 0 0 1 0 0 0 1
Central Laboratory, The First Hospital of Lanzhou University 0 0 0 0 0 0 1 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 0 0 0 1 1
New York Genome Center 0 15 0 1 0 0 1 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 1 1
Molecular Genetics Lab, CHRU Brest 0 2 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 0 1 0 0 0 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 0 0 0 0 0 1 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 0 0 1 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
DASA 0 14 0 1 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 2 0 1 0 0 0 1
H3Africa Consortium 0 1 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 0 0 1 0 0 0 1
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 1 0 0 1 1
Cytogenetics, Genetics Associates, Inc. 0 0 0 0 0 0 1 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 267
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys) rs79717168 0.00108
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu) rs74830677 0.00068
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_015836.4(WARS2):c.938A>T (p.Lys313Met) rs145867327 0.00035
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057 0.00010
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) rs930347206 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp) rs779598020 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu) rs755946598 0.00006
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter) rs369437593 0.00006
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_001242882.2(NAXD):c.922C>T (p.Arg308Cys) rs767778853 0.00005
NM_152906.7(TANGO2):c.605+1G>A rs372949028 0.00005
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) rs121917724 0.00004
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter) rs367797185 0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 0.00004
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg) rs780085174 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105 0.00003
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu) rs1207147043 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter) rs376699648 0.00003
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654 0.00003
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu) rs879255639 0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000285.4(PEPD):c.833G>A (p.Gly278Asp) rs121917723 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp) rs780517804 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg) rs386833755 0.00002
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) rs376328153 0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) rs760345680 0.00002
NM_031885.5(BBS2):c.118G>T (p.Val40Phe) rs886043059 0.00002
NM_000094.4(COL7A1):c.7485+5G>A rs988031901 0.00001
NM_000097.7(CPOX):c.1171C>T (p.Arg391Trp) rs375923779 0.00001
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530 0.00001
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro) rs1356375715 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610 0.00001
NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys) rs775204908 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys) rs771076819 0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys) rs747249619 0.00001
NM_001358530.2(MOCS1):c.1150+20G>A rs752653792 0.00001
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00001
NM_003361.4(UMOD):c.326T>A (p.Val109Glu) rs780462125 0.00001
NM_003560.4(PLA2G6):c.2035-2A>G rs1602057157 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_005051.3(QARS1):c.477G>A (p.Trp159Ter) rs776344968 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_006208.3(ENPP1):c.749C>T (p.Pro250Leu) rs754659608 0.00001
NM_006767.4(LZTR1):c.263+1G>A rs761241914 0.00001
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717 0.00001
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp) rs121908081 0.00001
NM_020442.6(VARS2):c.1468C>T (p.Arg490Ter) rs778868393 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923 0.00001
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter) rs752764598 0.00001
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter) rs879255683 0.00001
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val) rs776631396 0.00001
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
NM_000048.4(ASL):c.571C>G (p.Arg191Gly) rs143508372
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs) rs1566260198
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys) rs137852654
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.1108+1G>T rs1057517734
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg) rs421016
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000257.4(MYH7):c.1664A>G (p.Asn555Ser) rs876661215
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000335.5(SCN5A):c.1140+1G>A rs730880210
NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys) rs199473108
NM_000335.5(SCN5A):c.4427A>C (p.Lys1476Thr)
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) rs866706988
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro) rs796891223
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg) rs137852322
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000481.4(AMT):c.16del (p.Ser6fs) rs1553638907
NM_000481.4(AMT):c.797T>C (p.Leu266Pro) rs2049051428
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000531.6(OTC):c.608C>T (p.Ser203Phe) rs72558410
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs) rs1568537774
NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys) rs1600989183
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_001032386.2(SUOX):c.1390_1391del (p.Leu464fs) rs1592831898
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) rs121434491
NM_001040142.2(SCN2A):c.5485C>T (p.Leu1829Phe) rs1553463676
NM_001072.4(UGT1A6):c.862-6799_862-6798insTA rs1559406508
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del) rs750862009
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001134673.4(NFIA):c.2T>C (p.Met1Thr) rs1553148514
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp) rs587777003
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001165963.4(SCN1A):c.5168C>T (p.Ser1723Phe) rs796053099
NM_001170629.2(CHD8):c.4204C>T (p.Arg1402Ter) rs1334692966
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter) rs748956593
NM_001267550.2(TTN):c.86474T>G (p.Leu28825Ter) rs794729297
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001292034.3(TAB2):c.1764+1G>A rs1782223593
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val) rs2138711868
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn) rs1568763104
NM_001395891.1(CLASP1):c.196-562G>T rs370715569
NM_001395891.1(CLASP1):c.196-607G>A rs180755563
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg) rs794727472
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.2427G>A (p.Trp809Ter) rs745516434
NM_002185.5(IL7R):c.704C>G (p.Ser235Ter) rs766555082
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004247.4(EFTUD2):c.2562-2_2562-1del rs2050474390
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) rs1588585570
NM_004646.4(NPHS1):c.621del (p.Ser208fs) rs2146828521
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs) rs758657421
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005909.5(MAP1B):c.907C>T (p.Arg303Ter) rs1554054831
NM_006009.4(TUBA1A):c.1246G>A (p.Gly416Ser) rs1057521986
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val) rs121918025
NM_006218.4(PIK3CA):c.3012G>A (p.Met1004Ile) rs2108429272
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro) rs1762136390
NM_006545.5(NPRL2):c.932+1G>A rs1703621639
NM_006767.4(LZTR1):c.209A>G (p.Lys70Arg)
NM_006767.4(LZTR1):c.2127dup (p.Ile710fs)
NM_006767.4(LZTR1):c.677C>T (p.Pro226Leu) rs2147964011
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_007315.4(STAT1):c.1168A>G (p.Met390Val) rs1574648919
NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu) rs141970072
NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter) rs1383727273
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro) rs2142289928
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu) rs200626873
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020988.3(GNAO1):c.604G>A (p.Val202Ile) rs1297388989
NM_022114.4(PRDM16):c.213del (p.Val72fs) rs1569798933
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs) rs1064795649
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_054012.4(ASS1):c.774-2A>G rs1588496214
NM_078480.3(PUF60):c.389G>A (p.Arg130His) rs1554643584
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_139276.3(STAT3):c.82A>G (p.Met28Val) rs2145013673
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs) rs763527391
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs) rs1555850842
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly) rs1555873985
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val) rs761516140
NM_198576.4(AGRN):c.5011C>T (p.Arg1671Ter)
Single allele

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