ClinVar Miner

Variants from Genomic Research Center, Shahid Beheshti University of Medical Sciences with conflicting interpretations

Location: Iran, Islamic Republic of — Primary collection method: clinical testing
Minimum review status of the submission from Genomic Research Center, Shahid Beheshti University of Medical Sciences: Collection method of the submission from Genomic Research Center, Shahid Beheshti University of Medical Sciences:
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
1131 361 15 136 121 12 180 393

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
Genomic Research Center, Shahid Beheshti University of Medical Sciences pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other
pathogenic 12 53 32 4 7 0 4 4
likely pathogenic 65 1 48 11 11 0 1 0
uncertain significance 67 40 2 80 55 1 3 0
likely benign 8 0 10 0 14 0 0 0
benign 1 1 2 6 0 0 0 0

Submitter to submitter summary #

Total submitters: 119
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 0 146 0 32 95 0 59 184
OMIM 0 76 0 38 1 8 53 99
GeneDx 0 105 0 25 28 0 39 91
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 94 0 17 21 0 23 61
Illumina Clinical Services Laboratory,Illumina 0 72 0 12 17 0 22 49
Counsyl 0 54 0 20 6 0 20 46
Ambry Genetics 0 49 0 12 17 0 14 43
Mendelics 0 26 0 8 10 0 20 38
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 46 0 9 11 0 17 37
GeneReviews 0 14 12 14 1 0 10 37
Integrated Genetics/Laboratory Corporation of America 0 41 0 10 5 0 8 23
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 16 0 6 7 0 10 23
Genetic Services Laboratory, University of Chicago 0 31 0 6 5 1 9 21
PreventionGenetics,PreventionGenetics 0 18 0 2 15 0 5 21
CeGaT Praxis fuer Humangenetik Tuebingen 0 32 0 2 6 0 13 21
Athena Diagnostics Inc 0 20 0 5 10 0 6 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 33 0 5 6 0 9 20
Fulgent Genetics,Fulgent Genetics 0 46 0 9 4 0 6 19
Baylor Genetics 0 36 0 9 1 0 7 17
Color 0 20 0 2 8 0 6 16
Quest Diagnostics Nichols Institute San Juan Capistrano 0 15 0 3 5 0 3 11
Institute of Human Genetics,Klinikum rechts der Isar 0 11 0 3 0 0 6 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 5 0 4 1 0 5 9
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 20 0 1 5 0 1 7
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 4 0 0 2 7
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 24 0 1 5 0 1 7
Reproductive Health Research and Development,BGI Genomics 0 4 0 3 0 0 4 7
Sharing Clinical Reports Project (SCRP) 0 15 0 1 5 0 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 9 0 1 4 0 1 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 3 0 2 1 0 3 6
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 4 2 0 2 0 1 5
RettBASE 0 2 0 3 2 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1680 200 0 2 0 0 3 5
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 3 0 0 0 0 5 5
Michigan Medical Genetics Laboratories,University of Michigan 0 10 0 0 4 0 0 4
Blueprint Genetics 0 1 0 0 1 0 3 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 5 0 3 0 0 1 4
SIB Swiss Institute of Bioinformatics 0 2 0 2 0 0 2 4
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 5 0 2 0 0 2 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 10 0 0 4 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 4 0 0 0 0 3 3
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 2 0 0 3 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 12 0 1 2 0 0 3
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 1 0 1 0 0 2 3
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 1 0 2 3
Institute for Ophthalmic Research,University Tuebingen 0 0 0 2 0 0 1 3
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 2 0 0 1 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 0 2 3
True Health Diagnostics 0 0 0 0 3 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 3 3
Broad Institute Rare Disease Group,Broad Institute 0 2 0 0 0 0 3 3
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 3 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 0 1 0 0 1 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 1 2
PXE International 0 0 0 0 0 0 2 2
Breast Cancer Information Core (BIC) (BRCA2) 0 5 0 0 1 0 1 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 0 0 0 2 2
CSER _CC_NCGL, University of Washington 0 2 0 0 1 0 1 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 1 0 0 1 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 2 2
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 10 0 1 0 0 1 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 4 0 2 0 0 0 2
Research and Development, ARUP Laboratories 0 1 0 0 0 0 2 2
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 0 0 0 0 0 2 2
Department of Pathology and Molecular Medicine,Queen's University 0 1 0 0 2 0 0 2
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 4 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 5 0 0 2 0 0 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 0 0 2 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 10 0 1 1 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 0 0 1 0 0 1 2
Center for Human Genetics, Inc 0 4 0 1 0 0 0 1
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 0 0 0 0 0 1 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 10 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 1 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 0 0 1 0 0 0 1
GenMed Metabolism Lab 0 0 0 1 0 0 0 1
Wellcome Centre for Mitochondrial Research,Newcastle University 0 1 0 0 0 0 1 1
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità 0 0 0 1 0 0 0 1
Pathway Genomics 0 1 0 1 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 0 0 1 1
Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences,The Chinese University of Hong Kong, Hong Kong 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 1 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 0 1 0 0 1
Bone Marrow Failure laboratory,Queen Mary University London 0 0 0 0 0 0 1 1
Tulane Cancer Center,Tulane University 0 0 0 0 0 0 1 1
GeneKor MSA 0 14 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 0 0 0 0 0 0 1 1
Neurogenetics of motion laboratory,Montreal Neurological Institute 0 0 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 0 0 0 0 1 1
Chelly Lab, Institut de Génétique et de Biologie Moléculaire et Cellulaire,Strasbourg University - CNRS UMR 7104 - Inserm U 964 0 0 0 0 0 0 1 1
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 2 0 0 1 0 0 1
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University,Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 3 0 0 1 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 1 0 1
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 0 0 1 0 1 1
Human Genetics - Radboudumc,Radboudumc 0 0 0 0 0 0 1 1
Center of Medical Genetics and Primary Health Care 0 2 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 0 0 0 1 1
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 9 0 0 1 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 0 1 0 0 1
AlTemaimi Lab, Faculty of Medicine,Kuwait University 0 0 0 0 0 0 1 1
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 0 0 0 0 0 0 1 1
Inherited Neuropathy Consortium 0 1 0 0 0 0 1 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 0 0 1
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer 0 0 0 0 0 0 1 1
Center of Medical Genetics,Central South University 0 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 0 0 0 0 0 1 1
ClinGen PTEN Variant Curation Expert Panel 0 0 0 0 1 0 0 1
Uitto Lab,Thomas Jefferson University 0 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 0 1
Department of Pediatrics, Gifu University 0 0 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 393
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613
NM_000044.6(AR):c.1370_1372GCG[20] (p.Gly471_Gly473dup)
NM_000047.2(ARSL):c.1189G>A (p.Gly397Arg) rs201424543
NM_000048.4(ASL):c.1079T>C (p.Met360Thr) rs875989948
NM_000051.3(ATM):c.2921+1G>T rs587781558
NM_000051.3(ATM):c.7816A>G (p.Ile2606Val) rs376824528
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs80359306
NM_000059.3(BRCA2):c.6841+80_6841+83del rs11571661
NM_000059.3(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055
NM_000059.3(BRCA2):c.8395del (p.Arg2799fs) rs80359709
NM_000059.3(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000071.2(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000071.2(CBS):c.770C>T (p.Thr257Met) rs758236584
NM_000086.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_000086.2(CLN3):c.790+3A>C rs386833738
NM_000094.3(COL7A1):c.682+1G>A rs775288140
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000131.4(F7):c.1109G>T (p.Cys370Phe) rs121964927
NM_000137.3(FAH):c.1062+5G>A rs80338901
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000157.4(GBA):c.1246G>A (p.Gly416Ser) rs121908311
NM_000157.4(GBA):c.703T>C (p.Ser235Pro) rs1064644
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) rs552184470
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr) rs137853341
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000211.5(ITGB2):c.329-6C>T rs9983887
NM_000211.5(ITGB2):c.381C>T (p.Ile127=) rs483352812
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268
NM_000243.2(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000249.3(MLH1):c.1637A>G (p.Lys546Arg) rs587779954
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000286.3(PEX12):c.530_532AAC[1] (p.Gln178del) rs61752102
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) rs28936697
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785
NM_000310.3(PPT1):c.535C>T (p.Arg179Cys) rs560471003
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp) rs121918729
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000401.3(EXT2):c.1277G>A (p.Arg426Gln) rs138187791
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) rs72555372
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360
NM_000406.2(GNRHR):c.317A>G (p.Gln106Arg) rs104893836
NM_000427.3(LORICRIN):c.112_114GGC[5] (p.Gly41dup) rs770195151
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) rs759202962
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459
NM_000495.5(COL4A5):c.2510-33A>G rs104886358
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000526.5(KRT14):c.88C>T (p.Arg30Cys) rs201069984
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464
NM_000536.4(RAG2):c.218G>A (p.Arg73His) rs762407838
NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.2(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198
NM_000540.2(RYR1):c.844C>T (p.Arg282Trp) rs1057518970
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu) rs1064796396
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000900.5(MGP):c.157A>G (p.Lys53Glu) rs1801716
NM_000965.4(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_001009894.3(C12orf29):c.*807_*808CT[1] rs569673313
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs) rs80359859
NM_001017922.2(ERMAP):c.169G>A (p.Gly57Arg) rs56025238
NM_001024630.4(RUNX2):c.217del (p.Ala73fs) rs1554384228
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001042723.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001067.4(TOP2A):c.1737+5G>A rs140672916
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His) rs587782989
NM_001082.5(CYP4F2):c.648-7C>A rs3093221
NM_001083602.2(PTCH1):c.1124G>A (p.Arg375His) rs767273237
NM_001099922.3(ALG13):c.2754_2756ACC[14] (p.Pro945del) rs750710267
NM_001101426.4(CRPPA):c.1105_1107GTT[3] (p.Val372del) rs587777798
NM_001110792.1(MECP2):c.45_47dupAGG (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381
NM_001110792.2(MECP2):c.6_8CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001111125.3(IQSEC2):c.3054G>A (p.Thr1018=) rs782748833
NM_001123383.1(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_001126105.2(SLC7A7):c.149T>A (p.Met50Lys) rs386833811
NM_001126112.2(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_001126131.2(POLG):c.126_128GCA[12] (p.Gln55dup) rs41550117
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001130144.2(LTBP3):c.989C>T (p.Pro330Leu) rs28403592
NM_001130987.2(DYSF):c.2864+1G>A rs199954546
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054
NM_001139.3(ALOX12B):c.1566G>T (p.Pro522=)
NM_001139.3(ALOX12B):c.527+2T>G rs1555643304
NM_001142604.2(PPT1):c.181C>T (p.Arg61Ter) rs386833649
NM_001144967.3(NEDD4L):c.2677G>A (p.Glu893Lys) rs879255597
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280
NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys) rs556548077
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) rs74315438
NM_001162426.2(TSC1):c.568C>T (p.Arg190Cys) rs118203400
NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001164266.1(LTBP3):c.-272_-270CTG[13] rs71036212
NM_001165927.1(MKS1):c.485+1G>A rs201933838
NM_001168272.1(ITPR1):c.3849C>T (p.Asn1283=) rs182840163
NM_001171.5(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762
NM_001171.5(ABCC6):c.2247+22T>G rs72664298
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035
NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly) rs529580146
NM_001193466.2(KANSL1):c.112G>A (p.Gly38Ser) rs770738115
NM_001193466.2(KANSL1):c.889C>T (p.Arg297Cys) rs772236084
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser) rs146370051
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001234.5(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys) rs139626312
NM_001256047.1(C19orf12):c.391A>G (p.Lys131Glu) rs146170087
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990
NM_001267550.2(TTN):c.94906G>A (p.Asp31636Asn) rs776793953
NM_001271208.2(NEB):c.24219+1G>A rs755239192
NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs) rs1344099907
NM_001271223.2(OBSCN):c.35T>A (p.Phe12Tyr) rs191837710
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424
NM_001287174.2(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257
NM_001287174.2(ABCC8):c.4261C>T (p.Arg1421Cys) rs28938469
NM_001318245.2(MYO18B):c.7348C>T (p.Arg2450Trp) rs149103381
NM_001318825.1(HEXA):c.1544G>A (p.Arg515His) rs121907955
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys) rs761386688
NM_001330504.1(ALG1):c.494G>A (p.Arg165Gln) rs201975029
NM_001348803.2(ZBTB20):c.1811A>C (p.Lys604Thr) rs483353069
NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001358530.2(MOCS1):c.1506_1507AG[1] (p.Glu503fs) rs397518419
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105
NM_001360.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001365068.1(ASTN2):c.2806+26807G>A rs3747835
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001620.3(AHNAK):c.10589A>G (p.Lys3530Arg) rs143895650
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886
NM_001848.2(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993
NM_001848.2(COL6A1):c.2911G>A (p.Val971Met) rs769795690
NM_001849.3(COL6A2):c.1817-8C>A rs750444649
NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_001902.6(CTH):c.200C>T (p.Thr67Ile) rs28941785
NM_001918.4(DBT):c.75_76del (p.Cys26fs) rs768832921
NM_002052.5(GATA4):c.487C>T (p.Pro163Ser) rs387906769
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys) rs200180113
NM_002666.5(PLIN1):c.902C>T (p.Thr301Met) rs74407840
NM_002693.2(POLG):c.1721G>A (p.Arg574Gln) rs764287987
NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) rs769827124
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_002834.4(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_003000.2(SDHB):c.178A>G (p.Thr60Ala) rs34599281
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358
NM_003124.5(SPR):c.628C>T (p.Arg210Trp) rs200845457
NM_003156.3(STIM1):c.1928G>A (p.Arg643His) rs140080199
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn) rs199935023
NM_003880.3(CCN6):c.738_739GT[1] (p.Cys247fs) rs727503755
NM_003895.3(SYNJ1):c.2023G>A (p.Val675Ile) rs373820739
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004006.2(DMD):c.4115C>T (p.Ala1372Val) rs759108067
NM_004006.2(DMD):c.9479G>A (p.Arg3160His) rs771392678
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219
NM_004321.7(KIF1A):c.223C>T (p.Arg75Trp) rs778224699
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004366.6(CLCN2):c.1795G>A (p.Asp599Asn) rs141242566
NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) rs398124119
NM_004369.3(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017
NM_004369.3(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys) rs201299366
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_004563.4(PCK2):c.577C>T (p.Arg193Ter) rs753706965
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe) rs150401343
NM_004992.3(MECP2):c.1163_1197del (p.Pro388fs) rs267608589
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser) rs371816961
NM_005105.4(RBM8A):c.-21G>A rs139428292
NM_005105.4(RBM8A):c.67+32G>C rs201779890
NM_005120.3(MED12):c.6241_6243CAG[7] (p.Gln2086dup) rs786200971
NM_005198.4(CHKB):c.138G>T (p.Glu46Asp)
NM_005272.4(GNAT2):c.481C>T (p.Arg161Ter) rs745308973
NM_005557.4(KRT16):c.539C>T (p.Ala180Val) rs142750223
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_005603.6(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006
NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) rs568371168
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273
NM_005932.4(MIPEP):c.1670T>C (p.Met557Thr) rs139684349
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526
NM_006182.4(DDR2):c.508A>T (p.Thr170Ser) rs201573606
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084
NM_006432.4(NPC2):c.190+5G>A rs80358268
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006766.5(KAT6A):c.893C>T (p.Thr298Ile) rs199732997
NM_007055.4(POLR3A):c.1909+22G>A rs191875469
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn) rs563130304
NM_007294.3(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.3(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007300.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007300.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007300.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_012213.3(MLYCD):c.1328G>C (p.Gly443Ala) rs200278015
NM_012222.2(MUTYH):c.1138del (p.Ala382fs) rs587778536
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167
NM_012470.3(TNPO3):c.2542del (p.Tyr848fs) rs773574448
NM_013444.3(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile) rs143877538
NM_014270.5(SLC7A9):c.605-3C>A rs749913021
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014625.3(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014687.4(RUBCN):c.593C>T (p.Pro198Leu) rs145980033
NM_014845.5(FIG4):c.834A>T (p.Lys278Asn) rs138048706
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625
NM_015100.4(POGZ):c.1426C>T (p.Arg476Trp) rs267598016
NM_015120.4(ALMS1):c.36_38GGA[17] (p.Glu27_Glu29dup) rs55889738
NM_015335.4(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter) rs397514487
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015570.4(AUTS2):c.1295C>A (p.Pro432His) rs767529359
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) rs797045567
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497
NM_016218.3(POLK):c.410C>T (p.Ser137Phe) rs863225454
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016335.5(PRODH):c.1562= (p.Arg521=) rs450046
NM_016335.5(PRODH):c.865T>A (p.Leu289Met) rs137852934
NM_016937.4(POLA1):c.3604G>C (p.Asp1202His) rs41548013
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter) rs76308115
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017613.4(DONSON):c.82A>C (p.Ser28Arg) rs768071555
NM_017636.4(TRPM4):c.1150+1G>A rs200132598
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter) rs572380130
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) rs201735454
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170
NM_018480.5(TMEM126B):c.635G>T (p.Gly212Val) rs141542003
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_018706.7(DHTKD1):c.467dup (p.Thr157fs) rs1554791360
NM_018849.3(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_018896.5(CACNA1G):c.1931G>A (p.Cys644Tyr) rs200203979
NM_018941.3(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321
NM_020376.4(PNPLA2):c.1430C>T (p.Pro477Leu) rs142588621
NM_020549.4(CHAT):c.620G>A (p.Arg207His) rs764497513
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930
NM_020717.3(SHROOM4):c.436C>T (p.Arg146Trp) rs189694750
NM_020751.3(COG6):c.1746+2T>G rs1555280464
NM_020785.2(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) rs373365707
NM_020944.3(GBA2):c.786+9C>A rs374309697
NM_020987.5(ANK3):c.2902G>C (p.Asp968His) rs730882195
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063
NM_022336.4(EDAR):c.1024+16del rs3833574
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022336.4(EDAR):c.750C>T (p.Ser250=) rs260632
NM_022893.4(BCL11A):c.386-24278G>A rs11886868
NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) rs121909633
NM_024312.5(GNPTAB):c.3250-2A>G rs875989952
NM_024728.2(SUGCT):c.322C>T (p.Arg108Ter) rs137852862
NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly) rs201629827
NM_025114.3(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149
NM_030787.3(CFHR5):c.993C>A (p.Cys331Ter) rs751010317
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750
NM_032578.3(MYPN):c.3583G>A (p.Val1195Met) rs71534280
NM_033056.4(PCDH15):c.2361_2363TGT[2] (p.Val790del) rs483352837
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390
NM_033629.6(TREX1):c.-26-1G>A rs749323787
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636
NM_133379.5(TTN):c.1800+1G>A rs397517497
NM_138270.4(ATRX):c.5854_5856TCT[2] (p.Ser1954del) rs782391479
NM_138691.2(TMC1):c.236+1G>A rs775428246
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144639.3(UROC1):c.854G>A (p.Trp285Ter)
NM_144773.3(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448
NM_145262.4(GLYCTK):c.457C>T (p.Arg153Trp) rs199906865
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_172107.3(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846
NM_182894.3(VSX2):c.679C>T (p.Arg227Trp) rs121912545
NM_182914.2(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343
NM_183065.4(TMEM107):c.*755C>T rs75008470
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463
NM_198129.3(LAMA3):c.4246G>A (p.Val1416Met) rs77331026
NM_213599.2(ANO5):c.155A>G rs143777403
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535
m.9804G>A rs200613617

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