ClinVar Miner

Variants from Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City with conflicting interpretations

Location: Saudi Arabia  Primary collection method: clinical testing
Minimum review status of the submission from Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City: Collection method of the submission from Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City:
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
417 198 0 208 8 1 96 280

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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance
pathogenic 0 101 20 1 1 1
likely pathogenic 102 0 42 7 2 0
uncertain significance 14 17 0 3 3 0
likely benign 0 1 1 0 0 0
benign 1 0 2 5 0 0

Submitter to submitter summary #

Total submitters: 131
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 77 0 67 0 0 34 101
Invitae 0 87 0 25 4 1 22 52
OMIM 0 99 0 41 0 0 7 48
Baylor Genetics 0 111 0 31 0 0 12 43
Revvity Omics, Revvity 0 48 0 25 0 0 10 35
Illumina Laboratory Services, Illumina 0 11 0 7 2 0 11 20
Fulgent Genetics, Fulgent Genetics 0 36 0 12 1 0 6 19
Counsyl 0 19 0 11 1 0 5 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 34 0 10 1 0 3 14
Genome-Nilou Lab 0 33 0 11 0 0 3 14
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 23 0 13 0 0 0 13
Natera, Inc. 0 24 0 8 0 0 4 12
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 14 0 11 0 0 0 11
3billion 0 24 0 9 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 0 23 0 7 0 0 0 7
Genetic Services Laboratory, University of Chicago 0 16 0 6 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 11 0 5 0 0 1 6
Mendelics 0 17 0 5 0 0 1 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 3 0 0 3 6
Myriad Genetics, Inc. 0 11 0 4 0 0 2 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 18 0 3 0 0 2 5
Neuberg Centre For Genomic Medicine, NCGM 0 15 0 3 0 0 2 5
MGZ Medical Genetics Center 0 10 0 4 0 0 0 4
Centogene AG - the Rare Disease Company 0 32 0 4 0 0 0 4
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 0 4 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 4 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 6 0 2 0 0 2 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 7 0 2 0 0 1 3
SIB Swiss Institute of Bioinformatics 0 5 0 2 0 0 1 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 6 0 1 0 0 2 3
Reproductive Health Research and Development, BGI Genomics 0 3 0 2 0 0 1 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 4 0 0 0 0 2 2
GeneDx 0 7 0 0 0 0 2 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 1 0 0 1 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 0 2 0 0 0 2
Eurofins Ntd Llc (ga) 0 6 0 1 0 0 1 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 10 0 2 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 4 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 1 0 0 1 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 4 0 2 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 7 0 1 0 0 1 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 1 0 2 0 0 0 2
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 3 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 2 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 2 0 0 0 2
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 0 0 2 0 0 0 2
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 0 0 1 0 0 1 2
Suma Genomics 0 2 0 0 0 0 2 2
DASA 0 8 0 2 0 0 0 2
All of Us Research Program, National Institutes of Health 0 2 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 8 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 0 0 0 0 1 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 2 0 0 0 0 1 1
Institute for Human Genetics, University Medical Center Freiburg 0 1 0 0 0 0 1 1
Elsea Laboratory, Baylor College of Medicine 0 3 0 0 0 0 1 1
BloodGenetics 0 0 0 1 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 1 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 3 0 1 0 0 0 1
Blueprint Genetics 0 3 0 0 0 0 1 1
Pathway Genomics 0 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 5 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 0 1 1
UW Hindbrain Malformation Research Program, University of Washington 0 6 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 0 0 1 0 0 0 1
Center for Human Genetics, University of Leuven 0 0 0 1 0 0 0 1
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 1 0 1 0 0 0 1
Neurogenetics Laboratory, GH Pitie Salpetriere APHP 0 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 3 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 0 2 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 3 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 2 0 0 1 0 0 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 1 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 2 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 0 0 0 0 1 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 6 0 1 0 0 0 1
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre 0 0 0 0 0 0 1 1
Iberoamerican FH Network 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 4 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 3 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 0 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 2 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 9 0 1 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 5 0 1 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 0 0 0 0 1 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 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
Human Genetics Section, Sidra Medicine 0 0 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 4 0 1 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 0 0 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 2 0 1 0 0 0 1
New York Genome Center 0 10 0 0 0 0 1 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 2 0 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 0 1 0 0 0 1
Allergy Immunology Laboratory, Postgraduate Institute of Medical Education and Research, Chandigarh 0 0 0 1 0 0 0 1
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 0 0 0 0 0 1 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1 1
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 1 0 0 0 1
Houlden Lab, UCL Institute of Neurology 0 0 0 1 0 0 0 1
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 2 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 9 0 1 0 0 0 1
Arcensus 0 0 0 1 0 0 0 1
Dunham Lab, University of Washington 0 3 0 0 0 0 1 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 280
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
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_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173 0.00462
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro) rs199742668 0.00240
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu) rs145740834 0.00045
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_003721.4(RFXANK):c.188-11C>T rs201545133 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908 0.00014
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp) rs200865845 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511 0.00008
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter) rs142375551 0.00008
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val) rs111033609 0.00006
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033 0.00004
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter) rs201045495 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer) rs587783735 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) rs606231276 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) rs572278771 0.00003
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln) rs113994028 0.00002
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp) rs775651976 0.00002
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter) rs730882240 0.00002
NM_017950.4(CCDC40):c.2832+360C>T rs1567813319 0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673 0.00001
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780 0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys) rs1327401976 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508 0.00001
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00001
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp) rs752858869 0.00001
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter) rs777327250 0.00001
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00001
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479 0.00001
NM_001379286.1(ZNF423):c.3274G>A (p.Val1092Ile) rs759221881 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_003235.5(TG):c.6725G>A (p.Arg2242His) rs2069566 0.00001
NM_003764.4(STX11):c.173T>C (p.Leu58Pro) rs431905512 0.00001
NM_004092.4(ECHS1):c.88+5G>A rs761464256 0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met) rs748571395 0.00001
NM_012216.4(MID2):c.1558G>A (p.Gly520Ser) rs750972972 0.00001
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter) rs764260054 0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) rs1304109530 0.00001
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) rs754867753 0.00001
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275 0.00001
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu) rs764053964 0.00001
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter) rs774005569 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_205861.3(DHDDS):c.724G>A (p.Glu242Lys) rs1229969030 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala) rs1597534120
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser) rs398123088
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter) rs1249398093
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) rs1593726081
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter) rs867425110
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000123.4(ERCC5):c.2427del (p.Asp809fs) rs777455688
NM_000138.5(FBN1):c.5917+1G>T rs363808
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000155.4(GALT):c.650T>C (p.Leu217Pro) rs111033741
NM_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545
NM_000159.4(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp) rs1587908683
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000383.4(AIRE):c.44G>A (p.Arg15His) rs179363876
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs) rs746844753
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000492.4(CFTR):c.1993A>T (p.Thr665Ser) rs1177201180
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000521.4(HEXB):c.1169+3_1169+10del rs398123444
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg) rs1592380743
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) rs398123498
NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly) rs587777067
NM_001032386.2(SUOX):c.520del (p.Asp174fs) rs1565798380
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter) rs1596891223
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042646.3(TRAK1):c.1759dup (p.His587fs) rs1559390743
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001080467.3(MYO5B):c.1829C>A (p.Ser610Ter) rs753160864
NM_001080467.3(MYO5B):c.4765G>T (p.Glu1589Ter) rs762039116
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His) rs863225436
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn) rs1977170764
NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs) rs1566212378
NM_001164277.2(SLC37A4):c.985+1G>A rs1943553565
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe) rs1574568704
NM_001174089.2(SLC4A11):c.2018+1G>A rs2067654837
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter) rs764333096
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs) rs1601419986
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) rs1275489527
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) rs1556401714
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter) rs1578999313
NM_001371928.1(AHDC1):c.994C>T (p.Gln332Ter) rs1571242220
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter) rs1289499829
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378778.1(MPDZ):c.5278G>A (p.Ala1760Thr) rs1554644827
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro) rs730882250
NM_001673.5(ASNS):c.1193A>G (p.Tyr398Cys) rs1166271142
NM_001887.4(CRYBB1):c.171del (p.Asn58fs) rs1064793935
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_002187.3(IL12B):c.320dup (p.Glu108fs) rs587776807
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser) rs121918104
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003394.4(WNT10B):c.338-1G>C rs1163162816
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003721.4(RFXANK):c.271+1G>C rs759667201
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003721.4(RFXANK):c.713-1G>A rs2060720733
NM_003742.4(ABCB11):c.936G>T (p.Gln312His) rs770497192
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser) rs367638648
NM_004273.5(CHST3):c.503T>G (p.Ile168Ser) rs1589509307
NM_004628.5(XPC):c.1872+1G>C rs1559374923
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) rs759314410
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser) rs1601071085
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val) rs752600100
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005138.3(SCO2):c.2T>C (p.Met1Thr) rs1603441682
NM_005476.7(GNE):c.796C>T (p.Arg266Trp) rs121908621
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) rs137852763
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg) rs1315777461
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys) rs1942168488
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006096.4(NDRG1):c.944-1G>T rs1588216753
NM_006295.3(VARS1):c.1341G>T (p.Met447Ile) rs1581645904
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006642.5(SDCCAG8):c.1853+1G>A rs1573930690
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser) rs150736372
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_007262.5(PARK7):c.191_192del (p.Glu64fs) rs1553122929
NM_012144.4(DNAI1):c.1311+2T>A rs1587085165
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_013328.4(PYCR2):c.529G>A (p.Gly177Arg) rs1239964151
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014956.5(CEP164):c.347del (p.Lys116fs) rs751277203
NM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter) rs1585190351
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter) rs755138493
NM_017414.4(USP18):c.1073+1G>A rs1602534094
NM_017946.4(FKBP14):c.197+5_197+8del rs747353360
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018238.4(AGK):c.72G>A (p.Trp24Ter) rs1587053244
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter) rs1589625941
NM_018838.5(NDUFA12):c.4G>T (p.Glu2Ter) rs1411237396
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter) rs1555374290
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) rs1553281318
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_021147.5(CCNO):c.425del (p.Pro142fs) rs752527657
NM_022095.4(ZNF335):c.3158C>T (p.Pro1053Leu) rs768092083
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs) rs1570452214
NM_022356.4(P3H1):c.570_571del (p.Gly191fs) rs1553143741
NM_023067.4(FOXL2):c.313_315del (p.Asn105del) rs1057516154
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) rs886039814
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly) rs1565941025
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter) rs756783990
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter) rs556752387
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn) rs558425417
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu) rs201623252
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) rs763706988
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter) rs104894113
NM_138272.3(MPIG6B):c.149dup (p.Ala52fs) rs1807027560
NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro) rs1572611822
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly) rs141090506
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152281.3(GORAB):c.231dup (p.Pro78fs) rs1571243797
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg) rs730880295
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) rs121912543
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_198239.2(CCN6):c.246del (p.Glu84fs) rs797044438
NM_213653.4(HJV):c.497A>G (p.His166Arg) rs1553769663

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