ClinVar Miner

Variants from Knight Diagnostic Laboratories,Oregon Health and Sciences University with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Knight Diagnostic Laboratories,Oregon Health and Sciences University: Collection method of the submission from Knight Diagnostic Laboratories,Oregon Health and Sciences University:
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 Variants with at least 2 submissions 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 kind of conflict
44 58 19 38 51 15 30 121

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
Knight Diagnostic Laboratories,Oregon Health and Sciences University pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor other
pathogenic 15 18 13 4 5 0 2 3 1 9 7
likely pathogenic 21 1 8 7 4 1 2 2 1 0 1
uncertain significance 2 2 3 46 24 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 150
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Invitae 0 84 0 6 36 0 8 49
GeneDx 0 75 0 9 23 0 6 37
Illumina Clinical Services Laboratory,Illumina 0 44 0 5 12 0 7 24
Ambry Genetics 0 38 0 1 19 0 2 22
OMIM 0 42 0 6 0 14 2 21
GeneReviews 0 20 15 3 0 0 1 18
Color 0 7 0 0 18 0 0 18
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 49 0 7 8 1 1 17
Counsyl 0 46 0 10 3 0 4 16
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 52 0 6 4 3 3 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 25 0 3 7 0 4 14
Integrated Genetics/Laboratory Corporation of America 0 33 0 2 9 0 1 12
Mendelics 0 22 0 3 7 0 2 12
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 2 3 0 6 0 0 9
Genetic Services Laboratory, University of Chicago 0 15 0 4 4 1 0 9
PreventionGenetics,PreventionGenetics 0 6 0 0 7 0 1 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 12 0 0 3 0 5 8
Baylor Genetics 0 28 0 5 0 0 1 6
Athena Diagnostics Inc 0 10 0 4 1 0 2 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 16 0 1 3 0 2 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 0 3 0 0 3 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 3 0 0 0 0 5 5
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 6 0 0 4 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 5 0 1 2 0 1 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 12 0 0 3 0 1 4
Blueprint Genetics 0 7 0 0 2 0 2 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 4 0 0 1 4
Center for Human Genetics, Inc 0 2 0 0 3 0 0 3
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 1 0 3 0 0 0 3
PharmGKB 0 0 0 0 0 3 0 3
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 1 0 1 2 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 5 0 0 3 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 2 0 0 1 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 7 0 0 2 0 1 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 1 0 0 2 3
ClinGen CDH1 Variant Curation Expert Panel 0 0 0 0 3 0 0 3
Reproductive Health Research and Development,BGI Genomics 0 13 0 2 0 0 1 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 5 0 1 0 0 1 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 7 0 0 1 0 1 2
Fulgent Genetics,Fulgent Genetics 0 44 0 2 0 0 0 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 1 0 0 0 2
CSER _CC_NCGL, University of Washington 0 14 0 0 2 0 0 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 2 0 0 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 2 0 1 1 0 0 2
True Health Diagnostics 0 6 0 0 2 0 0 2
ClinGen Hearing Loss Variant Curation Expert Panel, 0 1 0 1 0 0 1 2
Center for Computational Genomics and Data Science,University of Alabama 0 0 0 0 0 2 0 2
Collagen Diagnostic Laboratory,University of Washington 0 0 0 1 0 0 0 1
Molecular Otolaryngology and Renal Research Laboratories,University of Iowa Hospital and Clinics 0 0 0 1 0 0 0 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 1 0 0 0 0 1 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 0 0 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 1 0 0 0 1
Michigan Medical Genetics Laboratories,University of Michigan 0 1 0 0 1 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 0 0 1 0 0 1 1
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 0 0 0 1 0 0 1
PXE International 0 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 8 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 1 0 1 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 0 0 1 0 0 0 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 0 1
University of British Columbia 0 0 0 1 0 0 0 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 1 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 0 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 0 0 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Science and Research Branch, Islamic Azad University,Islamic Azad University 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 4 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 12 0 1 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Centre of Medical Genetics, University of Antwerp 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 1 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 0 0 0 1 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 204 18 0 1 0 0 0 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 1 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 0 1 0 0 0 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 1 0 0 0 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 0 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 0 0 0 1 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 0 0 1 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 1 0 0 1 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 1 0 0 0 1
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 1 0 0 1 0 0 1
Geschwind lab,University of California Los Angeles 0 0 0 1 0 1 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 1 0 0 0 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 1 0 0 0 1
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 2 0 1 0 0 0 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 1 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 1 0 1 0 0 0 1
Zuffardi lab,University of Pavia 0 0 0 1 0 0 0 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 0 1
Robarts Research Institute,Western University 0 1 0 1 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 1 0 0 1 1
Tim Yu lab,Boston Children's Hospital 0 0 0 1 0 0 0 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 1 0 0 0 1
Medical Genetics Laboratory,Aldo Moro University of Bari 0 0 0 1 0 0 0 1
Herman Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 0 0 1 0 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 0 0 1 1
Department of Medical Sciences,Uppsala University 0 0 0 1 0 0 0 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 0 0 1 1
Yang An-Suei Laboratory,Academia Sinica 0 0 0 1 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 1 0 0 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 0 1
Flegel Lab,National Institutes of Health 0 0 0 1 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 5 0 1 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 0 0 0 1
Emory University School of Medicine, Department of Human Genetics,Emory University 0 0 0 1 0 0 0 1
Clinical genetics,CHU Grenoble-Alpes 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 0 0 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 4 0 0 1 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 1 0 0 1 1
Medical Genetics Summaries 0 0 0 0 0 1 0 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 1 0 0 0 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 0 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 3 0 1 0 0 0 1
Raymond Lab,University of Cambridge 0 0 0 1 0 0 0 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 0 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
Department of Molecular Innovation in Lipidology, National Cerebral & Cardiovascular Center Reseach Institute 0 0 0 0 1 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 2 0 0 1 0 0 1
Inherited Eye Disorders lab,UCL Institute of Ophthalmology 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 0 1 0 0 1
Clinical Genetics Research Group,Karolinska Institutet 0 0 0 1 0 0 0 1
Difficult and Complicated Liver Diseases and Artificial Liver Center,Beijing You An Hospital, Capital Medical University 0 0 0 1 0 0 0 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 121
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073
NM_000059.3(BRCA2):c.7995T>C (p.Asp2665=) rs200757418
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.4346T>G (p.Val1449Gly) rs79011683
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000100.3(CSTB):c.214_215TC[2] (p.Leu73fs) rs796943858
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000137.3(FAH):c.81+2T>A rs772895065
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000157.4(GBA):c.1604G>A (p.Arg535His) rs75822236
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173
NM_000222.2(KIT):c.1195G>A (p.Val399Ile) rs143707288
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000251.2(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000251.2(MSH2):c.942+28_942+29del rs11309117
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000410.3(HFE):c.187C>G (p.His63Asp) rs1799945
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000527.4(LDLR):c.2579C>T (p.Ala860Val) rs13306505
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.14670G>C (p.Val4890=) rs773080803
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) rs886051795
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983
NM_001031681.2(CTNS):c.414G>A (p.Trp138Ter) rs113994205
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035511.2(SDHC):c.424G>A (p.Ala142Thr) rs182629842
NM_001048171.1(MUTYH):c.283C>T (p.Arg95Trp) rs765123255
NM_001079823.2(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584
NM_001135599.3(TGFB2):c.1137G>A (p.Pro379=) rs142741166
NM_001135599.3(TGFB2):c.440C>T (p.Pro147Leu) rs149533093
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783
NM_001168338.1(PLG):c.112A>G (p.Lys38Glu) rs73015965
NM_001232.3(CASQ2):c.567C>G (p.Phe189Leu) rs146664754
NM_001256850.1(TTN):c.91981+4T>C rs373514079
NM_001258281.1(MSH2):c.744+29del rs11309117
NM_001267550.2(TTN):c.11311+1080del rs58651353
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met) rs748516947
NM_002474.3(MYH11):c.5787-4707C>A rs111588143
NM_002474.3(MYH11):c.5787-4708C>G rs200884440
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004572.3(PKP2):c.2150C>T (p.Pro717Leu) rs144018320
NM_004572.3(PKP2):c.953A>C (p.His318Pro) rs181098323
NM_004612.4(TGFBR1):c.52_54GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004614.5(TK2):c.323C>T (p.Thr108Met) rs137854431
NM_005327.5(HADH):c.676T>C (p.Tyr226His) rs146036912
NM_005609.4(PYGM):c.425-26A>G rs764313717
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_007300.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_012222.2(MUTYH):c.527A>G (p.Tyr176Cys) rs34612342
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) rs772136379
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_018129.4(PNPO):c.448_451del (p.Pro150fs) rs796052872
NM_024022.3(TMPRSS3):c.1276G>A (p.Ala426Thr) rs56264519
NM_024022.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991
NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs) rs386834157
NM_025114.3(CEP290):c.6645+1G>A rs201218801
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172
NM_144672.4(OTOA):c.828del (p.Ser277fs) rs751447996
NM_172057.2(KCNH2):c.78C>T (p.Ala26=) rs200324802
NM_201596.3(CACNB2):c.121-4T>G rs74120235
NM_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
Single allele
UGT1A1*6 rs4148323

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