ClinVar Miner

Variants from University of Washington Center for Mendelian Genomics, University of Washington with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from University of Washington Center for Mendelian Genomics, University of Washington: Collection method of the submission from University of Washington Center for Mendelian Genomics, University of Washington:
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
990 97 0 237 7 6 60 290

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
University of Washington Center for Mendelian Genomics, University of Washington pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective other
pathogenic 0 3 1 0 0 0 0 0 0
likely pathogenic 233 0 47 9 3 1 1 1 1
uncertain significance 1 3 0 4 0 0 0 0 0
likely benign 0 0 3 0 1 0 0 0 0
confers sensitivity 2 0 0 0 2 1 0 0 0

Submitter to submitter summary #

Total submitters: 83
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
Dan Cohn Lab,University Of California Los Angeles 0 8 0 119 0 0 18 137
OMIM 0 41 0 46 0 3 3 52
Invitae 0 2 0 13 0 0 15 27
SBielas Lab, Department of Human Genetics,University of Michigan 0 0 0 15 0 0 0 15
GeneDx 0 9 0 9 1 0 5 14
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 0 5 1 0 4 9
Cole/Wambach Lab,Washington University in St. Louis 0 1 0 9 0 0 0 9
UW Hindbrain Malformation Research Program,University of Washington 0 0 0 7 0 0 0 7
Undiagnosed Diseases Network,NIH 0 0 0 0 0 0 7 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 4 0 4 0 0 2 6
Dobyns Lab,Seattle Children's Research Institute 0 1 0 6 0 0 0 6
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center 0 0 0 5 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 0 4 0 0 0 4
Counsyl 0 0 0 2 0 0 2 4
Illumina Clinical Services Laboratory,Illumina 0 2 0 2 0 0 2 4
Center for Statistical Genetics, Columbia University 0 9 0 4 0 0 0 4
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 1 0 0 3 0 1 4
Krakow/Cohn Lab,University of California, Los Angeles 0 0 0 4 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 0 2 0 0 1 3
Ambry Genetics 0 4 0 1 2 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 3 0 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 2 0 1 0 1 3 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 14 0 1 0 0 3 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 0 3 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 1 3
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 0 4 0 3 0 0 0 3
Baylor Genetics 0 0 0 1 0 0 1 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 2 0 0 0 2
PreventionGenetics, PreventionGenetics 0 0 0 0 0 0 2 2
Integrated Genetics/Laboratory Corporation of America 0 3 0 1 1 0 0 2
Mendelics 0 0 0 2 0 0 0 2
GeneReviews 0 0 0 2 0 0 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 0 0 1 0 1 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 2 0 0 1 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 2 0 0 1 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 0 2 2
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 1 0 2 0 0 1 2
New York Genome Center 0 0 0 1 0 0 1 2
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 0 0 2 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 0 0 1 1
Collagen Diagnostic Laboratory,University of Washington 0 0 0 1 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 0 0 1 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1 1
Institute of Human Genetics, Klinikum rechts der Isar 0 0 0 1 0 0 0 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 0 1 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 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
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 0 1 0 1
Hereditary Research Laboratory, Bethlehem University 0 0 0 1 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 0 0 0 0 0 1 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 0 1
Kasturba Medical College, Manipal University 0 0 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
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 1 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 0 0 1 1
Reichenberger Lab, Center for Regenerative Medicine and Skeletal Development,UConn Health Center 0 0 0 1 0 0 0 1
Flegel Lab,National Institutes of Health 0 0 0 1 0 0 0 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 1 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 0 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 0 0 1 0 0 0 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde 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
DESAM Institute,Near East University 0 0 0 1 0 0 0 1
Central Laboratory,The First Hospital of Lanzhou University 0 0 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 0 0 0 0 0 0 1 1
Wilkie Group, Clinical Genetics Lab, WIMM,University of Oxford 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 290
Download table as spreadsheet
HGVS dbSNP
NM_000138.4(FBN1):c.2093C>T (p.Pro698Leu) rs764827921
NM_000138.4(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000346.4(SOX9):c.1177C>T (p.Gln393Ter) rs1598176852
NM_000346.4(SOX9):c.1180C>T (p.Arg394Ter) rs1057518216
NM_000346.4(SOX9):c.1234C>T (p.Gln412Ter) rs1341243329
NM_000346.4(SOX9):c.957C>G (p.Tyr319Ter) rs1324081394
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000511.6(FUT2):c.418A>T (p.Ile140Phe) rs1047781
NM_000511.6(FUT2):c.461G>A (p.Trp154Ter) rs601338
NM_000511.6(FUT2):c.604C>T (p.Arg202Ter) rs1800028
NM_001003722.1(GLE1):c.2078C>T (p.Ser693Phe) rs1564162129
NM_001009999.3(KDM1A):c.1739A>G (p.Asp580Gly) rs864309716
NM_001042475.3(CEP85L):c.232+1G>T
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) rs121918325
NM_001128840.3(CACNA1D):c.1220+597C>T rs759274321
NM_001128840.3(CACNA1D):c.1220+678_1220+679insGGG rs398122827
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr) rs876657970
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp) rs587777003
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter) rs376699648
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089
NM_001190274.2(FBXO11):c.319_320del (p.Leu107fs)
NM_001199397.2(NEK1):c.1122A>C (p.Glu374Asp) rs992324423
NM_001199397.2(NEK1):c.1226G>A (p.Trp409Ter) rs985064686
NM_001199397.2(NEK1):c.1618C>T (p.Arg540Ter) rs758677637
NM_001199397.2(NEK1):c.2886-1G>A rs773496891
NM_001199397.2(NEK1):c.418G>A (p.Gly140Arg) rs1301705612
NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs) rs752878896
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531
NM_001267550.2(TTN):c.73568del (p.Pro24523fs) rs1559415567
NM_001291412.2(SON):c.245-3285del rs886039776
NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter)
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)
NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp)
NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)
NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter)
NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys)
NM_001308120.2(TOGARAM1):c.5182C>T (p.Arg1728Ter)
NM_001330504.1(ALG1):c.440C>T (p.Ser147Leu) rs28939378
NM_001330504.1(ALG1):c.854+3A>G rs369160589
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001377.3(DYNC2H1):c.10042+2T>G rs1261505725
NM_001377.3(DYNC2H1):c.10099C>T (p.Arg3367Cys) rs200710887
NM_001377.3(DYNC2H1):c.10105T>C (p.Phe3369Leu) rs1555081345
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser) rs769053227
NM_001377.3(DYNC2H1):c.10918del (p.Leu3640fs) rs759649136
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val) rs369614706
NM_001377.3(DYNC2H1):c.11597del (p.Ser3866fs) rs1555098222
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709
NM_001377.3(DYNC2H1):c.12806T>C (p.Leu4269Ser) rs1555143920
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly) rs368654019
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu) rs770569272
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His) rs770380730
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) rs137853030
NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=) rs1178331074
NM_001377.3(DYNC2H1):c.2225T>G (p.Met742Arg) rs774610143
NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp) rs1555043520
NM_001377.3(DYNC2H1):c.3095del (p.Gln1032fs) rs1555049536
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs) rs755338872
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941
NM_001377.3(DYNC2H1):c.4162_4170dup (p.Val1388_Thr1390dup) rs1555051720
NM_001377.3(DYNC2H1):c.4418T>C (p.Ile1473Thr) rs1555052511
NM_001377.3(DYNC2H1):c.4553G>A (p.Cys1518Tyr) rs1555053115
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969
NM_001377.3(DYNC2H1):c.5558+2T>C rs762666243
NM_001377.3(DYNC2H1):c.5612del (p.Thr1871fs) rs1555056464
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536
NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs) rs1380132788
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val) rs963717773
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291
NM_001377.3(DYNC2H1):c.6161G>C (p.Cys2054Ser) rs1555057838
NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile) rs771511132
NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp) rs753662982
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.7277G>T (p.Arg2426Leu) rs373521030
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) rs537704873
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646
NM_001377.3(DYNC2H1):c.7663G>A (p.Val2555Met) rs746195428
NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys) rs758155107
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) rs200614421
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln) rs397514635
NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr) rs1196317554
NM_001377.3(DYNC2H1):c.8197G>T (p.Gly2733Cys) rs969015057
NM_001377.3(DYNC2H1):c.8311+1G>A rs1555068270
NM_001377.3(DYNC2H1):c.8434del (p.Ser2812fs) rs1555068636
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) rs137853032
NM_001377.3(DYNC2H1):c.8590del (p.Ala2864fs) rs1555070451
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001377.3(DYNC2H1):c.9045T>G (p.Asp3015Glu) rs794727767
NM_001377.3(DYNC2H1):c.9353+1G>A rs776407305
NM_001377.3(DYNC2H1):c.9760_9764del (p.Trp3253_Lys3254insTer) rs1218198013
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637
NM_001499.2(GLE1):c.1706G>A (p.Arg569His) rs121434407
NM_001499.2(GLE1):c.1750C>T (p.Arg584Trp) rs765269946
NM_001734.5(C1S):c.880T>C (p.Cys294Arg) rs886040975
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu) rs886040974
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001791.4(CDC42):c.203G>A (p.Arg68Gln) rs1553196096
NM_001791.4(CDC42):c.247T>C (p.Ser83Pro) rs1553196101
NM_001791.4(CDC42):c.476C>T (p.Ala159Val) rs1553196134
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys) rs797044916
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys) rs199984052
NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) rs869312821
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) rs752746786
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.301A>G (p.Met101Val) rs869312825
NM_002074.5(GNB1):c.976G>A (p.Ala326Thr) rs869312826
NM_002296.4(LBR):c.1174G>A (p.Gly392Arg) rs1236962991
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln) rs754049402
NM_002386.3(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.3(MC1R):c.515G>T (p.Ser172Ile) rs376670171
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter) rs1601319501
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004281.3(BAG3):c.211C>T (p.Arg71Trp) rs387906874
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile) rs587776961
NM_006214.4(PHYH):c.1010_1012dup (p.Leu338_Ter339insHis) rs566116760
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) rs145404396
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006416.5(SLC35A1):c.467C>G (p.Thr156Arg) rs578205635
NM_006416.5(SLC35A1):c.586G>A (p.Glu196Lys) rs1554166844
NM_006531.5(IFT88):c.2087G>C (p.Arg696Pro) rs373832683
NM_007055.4(POLR3A):c.*18C>T rs1248039821
NM_007055.4(POLR3A):c.1572+1G>A rs141484643
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232
NM_007055.4(POLR3A):c.2617-1G>A rs181087667
NM_007055.4(POLR3A):c.3243-2A>G rs1462460124
NM_007055.4(POLR3A):c.3337-11T>C rs1564613755
NM_007055.4(POLR3A):c.3337-5T>A rs368905417
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) rs1168641193
NM_007055.4(POLR3A):c.490+1G>A rs1564623882
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018
NM_012090.5(MACF1):c.10617+444_15577-288del
NM_012090.5(MACF1):c.14116G>C (p.Gly4706Arg) rs1488808726
NM_012090.5(MACF1):c.15530G>T (p.Cys5177Phe) rs1557668270
NM_012090.5(MACF1):c.15682G>T (p.Asp5228Tyr) rs1557670503
NM_012090.5(MACF1):c.15688T>G (p.Cys5230Gly) rs1557670515
NM_012090.5(MACF1):c.15689G>T (p.Cys5230Phe) rs1557670520
NM_012224.3(NEK1):c.1685_1686del (p.Arg562fs) rs1554053289
NM_012224.3(NEK1):c.1784del (p.Ser595fs) rs1362848762
NM_012224.3(NEK1):c.214+1G>A rs1049502301
NM_012224.3(NEK1):c.599_602del (p.Lys200fs) rs1554075284
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728
NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys) rs775551492
NM_013432.5(TONSL):c.1602_1612del (p.Ala536fs) rs1586692058
NM_013432.5(TONSL):c.1837G>T (p.Val613Leu) rs778625348
NM_013432.5(TONSL):c.2407C>T (p.Gln803Ter) rs769100855
NM_013432.5(TONSL):c.2638_2647delinsGG (p.Arg880fs) rs1586687279
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp) rs755575416
NM_013432.5(TONSL):c.329G>A (p.Trp110Ter) rs1002531030
NM_013432.5(TONSL):c.3589T>C (p.Ser1197Pro) rs1586681982
NM_013432.5(TONSL):c.595G>A (p.Glu199Lys) rs1335783881
NM_013432.5(TONSL):c.866-1G>C rs1424148372
NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser) rs149108037
NM_014714.4(IFT140):c.1010-1G>A rs770185023
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)
NM_015021.3(ZNF292):c.6578A>C (p.Tyr2193Ser) rs1554208945
NM_015650.4(TRAF3IP1):c.1358C>G (p.Ser453Cys) rs146820102
NM_015650.4(TRAF3IP1):c.1368-1del rs764906529
NM_015650.4(TRAF3IP1):c.169G>A (p.Glu57Lys) rs769651861
NM_015650.4(TRAF3IP1):c.988-1G>C rs372499275
NM_015693.4(INTU):c.1288C>T (p.Arg430Cys) rs1227833863
NM_015693.4(INTU):c.1628G>A (p.Arg543His) rs34027211
NM_016004.5(IFT52):c.931G>A (p.Glu311Lys) rs145672738
NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys) rs76483206
NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs) rs1554581674
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) rs1554593049
NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg) rs1554597512
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) rs1554597716
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3209del (p.Val1070fs) rs1554597952
NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs) rs1554599462
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4835del (p.Asn1612fs) rs1554601654
NM_017780.4(CHD7):c.5210+2T>C rs1554602587
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter) rs1021645395
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_017780.4(CHD7):c.925C>T (p.Gln309Ter) rs1436515577
NM_018051.5(DYNC2I1):c.1777C>T (p.Arg593Trp) rs776300442
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575
NM_020338.4(ZMIZ1):c.2758dup (p.Gln920fs) rs777843533
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508
NM_020779.4(WDR35):c.1400+3A>G rs776631281
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020779.4(WDR35):c.2489A>T (p.Asp830Val) rs1553316926
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe) rs1553753582
NM_020800.3(IFT80):c.487_490del (p.Leu163fs) rs1553764834
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn) rs372576954
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_021070.4(LTBP3):c.132del (p.Pro45fs) rs1286042594
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_024072.4(DDX54):c.892C>T (p.Leu298Phe) rs1593005589
NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp) rs1553516687
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) rs79746977
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro) rs759086770
NM_025077.4(TOE1):c.307G>A (p.Ala103Thr) rs371848318
NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr) rs148067486
NM_025077.4(TOE1):c.518T>G (p.Val173Gly) rs777030573
NM_025077.4(TOE1):c.658G>A (p.Glu220Lys) rs1570621473
NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys) rs759662469
NM_025103.4(IFT74):c.120+2dup rs551515830
NM_025129.5(FUZ):c.851G>T (p.Arg284Leu) rs368721486
NM_025129.5(FUZ):c.98_111+9del rs548706733
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg) rs1215108056
NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter) rs772599282
NM_025132.4(WDR19):c.3484-2A>C rs1553918403
NM_025132.4(WDR19):c.3565+1G>A rs587777352
NM_025132.4(WDR19):c.3716+1G>A rs1191056931
NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr) rs745603321
NM_025132.4(WDR19):c.475G>A (p.Asp159Asn) rs1451698951
NM_025132.4(WDR19):c.746T>C (p.Phe249Ser) rs1553905326
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857
NM_025185.4(TANC2):c.1219+1G>A
NM_025185.4(TANC2):c.4405del (p.Arg1469fs)
NM_025185.4(TANC2):c.4447C>T (p.Gln1483Ter)
NM_025185.4(TANC2):c.4449del (p.Gln1483fs)
NM_032656.4(DHX37):c.1399C>G (p.Leu467Val) rs149331610
NM_052844.3(DYNC2I2):c.1177G>A (p.Gly393Ser) rs587777096
NM_052844.3(DYNC2I2):c.1480C>T (p.Gln494Ter) rs751323441
NM_052844.3(DYNC2I2):c.1567_1582del (p.Glu523fs) rs1554770453
NM_052844.3(DYNC2I2):c.544C>T (p.Arg182Trp) rs555811074
NM_052844.3(DYNC2I2):c.935T>C (p.Phe312Ser) rs1554771175
NM_052854.4(CREB3L1):c.928AAG[2] (p.Lys312del) rs1555222973
NM_052873.3(IFT43):c.8A>G (p.Asp3Gly) rs144776609
NM_138927.3(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_138927.3(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138927.3(SON):c.6002_6003insCC (p.Arg2002fs) rs886039775
NM_138927.4(SON):c.5549_5550del (p.Arg1850fs) rs886039774
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196
NM_147127.5(EVC2):c.1713dup (p.Asn572fs) rs1553836165
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323
NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln) rs878855336
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser) rs878855337
NM_152707.4(SLC25A16):c.92G>T (p.Arg31Leu) rs771745123
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619
NM_153717.3(EVC):c.1886+5G>T rs794726665
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr) rs267607574
NM_173477.5(USH1G):c.854dup (p.Ala286fs) rs1567939718
NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr) rs763320093
NM_177924.5(ASAH1):c.1154T>C (p.Leu385Pro) rs368345612
NM_206933.3(USH2A):c.908G>A (p.Arg303His) rs371777049
Single allele

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