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 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
128 174 5 124 67 14 39 209

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 established risk allele pathogenic, low penetrance risk factor other
pathogenic 3 62 15 1 3 1 2 4 3 0
likely pathogenic 54 2 18 3 2 1 4 0 2 1
uncertain significance 2 1 0 55 19 0 0 0 0 0
likely benign 0 0 3 0 5 0 0 0 0 0
benign 0 0 3 3 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 119
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 0 106 0 28 39 3 11 80
Illumina Laboratory Services, Illumina 0 75 0 10 15 0 5 30
Baylor Genetics 0 76 0 19 1 0 3 23
OMIM 0 75 0 13 0 5 2 20
Counsyl 0 14 0 12 3 0 3 18
Mendelics 0 28 0 5 7 0 3 15
GeneDx 0 35 0 6 7 0 1 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 55 0 14 0 0 0 14
Revvity Omics, Revvity 0 45 0 9 3 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 12 0 10 0 0 2 12
Ambry Genetics 0 23 0 1 6 4 0 11
Natera, Inc. 0 41 0 8 0 0 3 11
Myriad Genetics, Inc. 0 45 0 7 4 0 0 11
Genetic Services Laboratory, University of Chicago 0 24 0 8 1 1 0 10
Fulgent Genetics, Fulgent Genetics 0 66 0 10 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 50 0 8 0 0 1 9
Color Diagnostics, LLC DBA Color Health 0 14 0 4 3 1 1 9
PreventionGenetics, part of Exact Sciences 0 10 0 4 4 0 0 8
Sema4, Sema4 0 13 0 2 5 0 1 8
Institute of Human Genetics, University of Leipzig Medical Center 0 22 0 5 0 0 3 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 18 0 2 3 0 1 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 37 0 5 1 0 0 6
MGZ Medical Genetics Center 0 22 0 5 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 8 0 3 2 0 0 5
Genome-Nilou Lab 0 29 0 2 2 0 1 5
3billion 0 24 0 4 0 0 1 5
Eurofins Ntd Llc (ga) 0 22 0 1 1 0 2 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 13 0 4 0 0 0 4
CeGaT Center for Human Genetics Tuebingen 0 18 0 3 1 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 14 0 2 1 0 1 4
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 1 0 2 0 0 2 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 14 0 1 2 0 1 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 16 0 2 2 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 7 0 3 0 0 1 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 7 0 3 0 0 0 3
Clinical Genetics, Academic Medical Center 0 1 0 2 1 0 0 3
GeneReviews 0 53 3 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 7 0 2 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 8 1 1 0 0 1 3
GeneKor MSA 0 4 0 2 0 1 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 4 0 2 0 0 1 3
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 2 0 2 0 0 1 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 10 0 3 0 0 0 3
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 0 0 0 0 0 0 3 3
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto 0 0 0 0 3 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 10 0 1 0 0 1 2
Elsea Laboratory, Baylor College of Medicine 0 1 0 0 0 0 2 2
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 0 2 0 0 2
CSER _CC_NCGL, University of Washington 0 3 0 0 1 0 1 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 6 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 1 1 0 0 2
Undiagnosed Diseases Network, NIH 0 7 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 17 0 1 0 0 1 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 5 0 0 0 2 0 2
True Health Diagnostics 0 6 0 1 0 1 0 2
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 0 0 0 2 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 0 11 0 2 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 2 0 0 0 2
Suma Genomics 0 2 0 0 0 0 2 2
Genomics England Pilot Project, Genomics England 0 7 0 2 0 0 0 2
All of Us Research Program, National Institutes of Health 0 8 0 1 1 0 0 2
Athena Diagnostics Inc 0 6 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 14 0 1 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 2 0 0 1 0 0 1
Molecular Otolaryngology and Renal Research Laboratories, University of Iowa Hospital and Clinics 0 0 0 1 0 0 0 1
Institute for Human Genetics, University Medical Center Freiburg 0 1 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 22 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 1 0 0 0 1
Michigan Medical Genetics Laboratories, University of Michigan 0 0 0 0 1 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 5 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 16 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 4 0 0 0 1 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 0 0 1 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 3 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 8 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 15 0 1 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 2 0 0 1 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 4 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 5 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 1 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 2 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 19 0 1 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 0 0 1 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 8 0 0 1 0 0 1
Department of Molecular Innovation in Lipidology, National Cerebral & Cardiovascular Center Reseach Institute 0 0 0 0 1 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 1 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
Genetics and Genomics Program, Sidra Medicine 0 0 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 6 0 0 0 0 1 1
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 2 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 3 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 3 0 0 0 0 1 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 0 1 0 0 0 1
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 0 0 0 0 0 0 1 1
DASA 0 16 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 7 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 7 0 1 0 0 0 1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 0 0 1 0 0 0 1
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 1 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 15 0 1 0 0 0 1
Arcensus 0 2 0 1 0 0 0 1
BRCAlab, Lund University 0 0 0 0 1 0 0 1
Dunham Lab, University of Washington 0 1 0 0 0 0 1 1
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 0 0 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 0 1 0 0 0 1
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 0 5 0 1 0 0 0 1
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 209
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
UGT1A1*6 rs4148323 0.00891
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) rs35018800 0.00499
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_015175.3(NBEAL2):c.5103C>T (p.Phe1701=) rs199537643 0.00260
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837 0.00216
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_003001.5(SDHC):c.*78G>A rs182629842 0.00182
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His) rs202106628 0.00140
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193 0.00109
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631 0.00095
NM_201596.3(CACNB2):c.121-4T>G rs74120235 0.00088
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506 0.00080
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys) rs144291418 0.00063
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe) rs111391222 0.00061
NM_000222.3(KIT):c.1195G>A (p.Val399Ile) rs143707288 0.00059
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr) rs140614903 0.00054
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr) rs201692549 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457 0.00047
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983 0.00034
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met) rs148056371 0.00032
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172 0.00032
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys) rs139334561 0.00024
NM_004366.6(CLCN2):c.2062C>T (p.Arg688Trp) rs368380934 0.00024
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_032040.5(CCDC8):c.43C>T (p.Arg15Trp) rs200189331 0.00022
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser) rs201022212 0.00019
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718 0.00015
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_006231.4(POLE):c.3670G>T (p.Ala1224Ser) rs369338222 0.00011
NM_006231.4(POLE):c.3671C>T (p.Ala1224Val) rs375208564 0.00011
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_000540.3(RYR1):c.14670G>C (p.Val4890=) rs773080803 0.00010
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115 0.00010
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_003114.5(SPAG1):c.897_901del (p.Lys301fs) rs751845138 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met) rs748516947 0.00008
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile) rs369055628 0.00008
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166 0.00007
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584 0.00006
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln) rs143076166 0.00006
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val) rs13306505 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) rs121917724 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320 0.00004
NM_001005242.3(PKP2):c.953A>C (p.His318Pro) rs181098323 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=) rs142741166 0.00004
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala) rs28939717 0.00004
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter) rs775623164 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) rs886051795 0.00002
NM_001351169.2(NT5C2):c.1099C>T (p.Arg367Ter) rs769873284 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln) rs771180054 0.00002
NM_005422.4(TECTA):c.5977C>T (p.Arg1993Ter) rs760574657 0.00002
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000059.4(BRCA2):c.7995T>C (p.Asp2665=) rs200757418 0.00001
NM_000137.4(FAH):c.81+2T>A rs772895065 0.00001
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile) rs375974046 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646 0.00001
NM_000540.3(RYR1):c.12251G>A (p.Arg4084His) rs779380542 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000251.3(MSH2):c.942+28_942+29del rs11309117
NM_000251.3(MSH2):c.942+29del rs11309117
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000548.5(TSC2):c.1137G>A (p.Glu379=) rs1057519260
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter) rs1057519469
NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala) rs200884440
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter) rs1588354762
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs) rs1064793130
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs) rs745744124
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) rs515726210
NM_018129.4(PNPO):c.448_451del (p.Pro150fs) rs796052872
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) rs201268862
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032634.4(PIGO):c.2191dup (p.Arg731fs) rs760848629
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_144672.4(OTOA):c.828del (p.Ser277fs) rs751447996
Single allele

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