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
969 314 16 111 64 10 135 289

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 risk factor other
pathogenic 11 47 27 4 3 4 4
likely pathogenic 53 3 43 10 7 1 0
uncertain significance 43 23 2 47 28 2 0
likely benign 5 0 6 0 8 0 0
benign 1 1 2 5 0 0 0

Submitter to submitter summary #

Total submitters: 96
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 91 0 18 27 0 38 82
GeneDx 0 92 0 24 22 0 30 75
OMIM 0 72 0 32 0 8 32 71
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 82 0 17 20 0 19 56
Counsyl 0 51 0 20 6 0 16 42
Illumina Clinical Services Laboratory,Illumina 0 65 0 12 16 0 16 42
Ambry Genetics 0 42 0 10 14 0 10 34
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 35 1 6 8 0 11 26
GeneReviews 0 11 11 7 0 0 7 25
Genetic Services Laboratory, University of Chicago 0 30 0 6 5 1 8 20
PreventionGenetics 0 16 0 1 15 0 5 20
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 12 0 6 6 0 7 19
Integrated Genetics/Laboratory Corporation of America 0 39 0 9 3 0 5 17
Color 0 19 0 2 8 0 6 16
Fulgent Genetics 0 44 0 9 4 0 2 15
CeGaT Praxis fuer Humangenetik Tuebingen 0 8 0 1 3 0 7 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 25 0 3 4 0 3 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 5 0 4 1 0 5 9
Athena Diagnostics Inc 0 17 0 1 4 0 3 8
Baylor Miraca Genetics Laboratories, 0 13 0 2 1 0 4 7
Quest Diagnostics Nichols Institute San Juan Capistrano 0 13 0 2 3 0 2 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
Sharing Clinical Reports Project (SCRP) 0 15 0 1 5 0 0 6
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 19 0 1 5 0 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 9 0 1 4 0 1 6
RettBASE 0 2 0 3 2 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1393 174 0 2 0 0 3 5
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 3 0 2 0 0 3 5
Biesecker Lab/Human Development Section,National Institutes of Health 0 4 2 0 1 0 1 4
Michigan Medical Genetics Laboratories,University of Michigan 0 10 0 0 4 0 0 4
SIB Swiss Institute of Bioinformatics 0 1 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
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 12 0 1 2 0 0 3
Mendelics 0 7 0 1 0 0 2 3
Institute of Human Genetics,Klinikum rechts der Isar 0 5 0 2 0 0 1 3
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 0 0 1 0 2 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 5 0 3 0 0 0 3
Institute for Ophthalmic Research,University Tuebingen 0 0 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
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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 2 0 0 2 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 1 0 1 0 0 1 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 1 2
Blueprint Genetics, 0 1 0 0 0 0 2 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 Medical Center 0 2 0 0 1 0 1 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 2 0 0 0 0 2 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 2 0 0 0 2
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 10 0 1 0 0 1 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
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 5 0 1 0 0 1 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 10 0 1 1 0 0 2
Center for Human Genetics, Inc 0 4 0 1 0 0 0 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 9 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 0 0 0 0 1 1
GenMed Metabolism Lab 0 0 0 1 0 0 0 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 1 0 0 0 0 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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 1 0 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 13 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 3 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology,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
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
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
ARUP Institute,ARUP Laboratories 0 1 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 0 0 0 1 0 0 1
AlTemaimi Lab, Faculty of Medicine,Kuwait University 0 0 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
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

All variants with conflicting interpretations #

Total variants: 289
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000017.3(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.3(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000043.5(FAS):c.183G>A (p.Lys61=) rs3218613
NM_000048.3(ASL):c.1079T>C (p.Met360Thr) rs875989948
NM_000050.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636
NM_000051.3(ATM):c.2921+1G>T rs587781558
NM_000051.3(ATM):c.7816A>G (p.Ile2606Val) rs376824528
NM_000053.3(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.3(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.3(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109
NM_000057.3(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.6841+80_6841+83delTTAA rs11571661
NM_000059.3(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055
NM_000059.3(BRCA2):c.8395delA (p.Arg2799Aspfs) rs80359709
NM_000059.3(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000094.3(COL7A1):c.682+1G>A rs775288140
NM_000131.4(F7):c.1109G>T (p.Cys370Phe) rs121964927
NM_000137.2(FAH):c.1062+5G>A rs80338901
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000155.3(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000159.3(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000166.5(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000168.5(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_000193.3(SHH):c.1147G>A (p.Ala383Thr) rs137853341
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000199.3(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000209.3(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000211.4(ITGB2):c.329-6C>T rs9983887
NM_000211.4(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_000249.3(MLH1):c.1637A>G (p.Lys546Arg) rs587779954
NM_000257.3(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.3(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_000262.2(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.3(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596
NM_000263.3(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000286.2(PEX12):c.533_535delAAC (p.Gln178del) rs61752102
NM_000286.2(PEX12):c.959C>T (p.Ser320Phe) rs28936697
NM_000293.2(PHKB):c.400G>A (p.Asp134Asn) rs144486825
NM_000293.2(PHKB):c.574A>G (p.Ile192Val) rs117218785
NM_000310.3(PPT1):c.490C>T (p.Arg164Ter) rs386833649
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000348.3(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250
NM_000359.2(TGM1):c.1559A>G (p.Glu520Gly) rs142404759
NM_000368.4(TSC1):c.568C>T (p.Arg190Cys) rs118203400
NM_000372.4(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000404.3(GLB1):c.1051C>T (p.Arg351Ter) rs72555372
NM_000404.3(GLB1):c.443G>A (p.Arg148His) rs745864233
NM_000406.2(GNRHR):c.317A>G (p.Gln106Arg) rs104893836
NM_000435.2(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000441.1(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000443.3(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_000487.5(ARSA):c.931G>A (p.Gly311Ser) rs74315459
NM_000500.7(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951
NM_000520.5(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.5(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000531.5(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000536.3(RAG2):c.218G>A (p.Arg73His) rs762407838
NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_000540.2(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198
NM_000540.2(RYR1):c.844C>T (p.Arg282Trp) rs1057518970
NM_000543.4(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000548.4(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000642.2(AGL):c.334A>G (p.Ile112Val) rs147024351
NM_000642.2(AGL):c.4221dupA (p.Leu1408Ilefs) rs786204655
NM_000748.2(CHRNB2):c.1291G>C (p.Val431Leu) rs1064796396
NM_000784.3(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_001005741.2(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_001005741.2(GBA):c.703T>C (p.Ser235Pro) rs1064644
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362
NM_001017420.2(ESCO2):c.1111dupA (p.Thr371Asnfs) rs80359859
NM_001018073.2(PCK2):c.577C>T (p.Arg193Ter) rs753706965
NM_001024630.3(RUNX2):c.217delG (p.Ala73Argfs) rs1554384228
NM_001031726.3(C19orf12):c.424A>G (p.Lys142Glu) rs146170087
NM_001033855.2(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102
NM_001038603.2(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957
NM_001039141.2(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032
NM_001042432.1(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_001042432.1(CLN3):c.790+3A>C rs386833738
NM_001044385.2(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His) rs587782989
NM_001080522.2(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430
NM_001083607.2(PTCH1):c.869G>A (p.Arg290His) rs767273237
NM_001099922.2(ALG13):c.2796_2798delACC (p.Pro945del) rs750710267
NM_001101426.3(CRPPA):c.1114_1116delGTT (p.Val372del) rs587777798
NM_001110792.1(MECP2):c.45_47dupAGG (p.Gly16dup) rs587783744
NM_001126105.2(SLC7A7):c.149T>A (p.Met50Lys) rs386833811
NM_001126335.1(SLC7A9):c.605-3C>A rs749913021
NM_001127180.1(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001128425.1(MUTYH):c.1147delC (p.Ala385Profs) rs587778536
NM_001139.3(ALOX12B):c.527+2T>G rs1555643304
NM_001144967.2(NEDD4L):c.2677G>A (p.Glu893Lys) rs879255597
NM_001145079.1(COG6):c.1746+2T>G rs1555280464
NM_001164342.2(ZBTB20):c.1811A>C (p.Lys604Thr) rs483353069
NM_001171.5(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762
NM_001171.5(ABCC6):c.2247+22T>G rs72664298
NM_001193466.1(KANSL1):c.112G>A (p.Gly38Ser) rs770738115
NM_001193466.1(KANSL1):c.889C>T (p.Arg297Cys) rs772236084
NM_001198799.2(ASCC1):c.953A>G (p.Asn318Ser) rs146370051
NM_001198896.1(ACY1):c.841C>T (p.Arg281Cys) rs121912698
NM_001256850.1(TTN):c.102712C>T (p.Gln34238Ter) rs757082154
NM_001256850.1(TTN):c.1800+1G>A rs397517497
NM_001256850.1(TTN):c.25577C>T (p.Thr8526Met) rs72648990
NM_001271208.1(NEB):c.24219+1G>A rs755239192
NM_001281723.2(BTD):c.106G>A (p.Gly36Ser) rs119103232
NM_001282228.1(ADA2):c.13G>A (p.Gly5Arg) rs202134424
NM_001287174.1(ABCC8):c.4261C>T (p.Arg1421Cys) rs28938469
NM_001317040.1(GLB1):c.745C>T (p.Arg249Cys) rs72555360
NM_001318825.1(HEXA):c.1544G>A (p.Arg515His) rs121907955
NM_001351297.1(ABCC8):c.1060G>A (p.Ala354Thr) rs145136257
NM_001351527.1(SETX):c.1504C>T (p.Arg502Trp) rs534723946
NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001360.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001360.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001399.4(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001844.4(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898
NM_001844.4(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886
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_001918.3(DBT):c.75_76delAT (p.Cys26Trpfs) rs768832921
NM_002052.4(GATA4):c.487C>T (p.Pro163Ser) rs387906769
NM_002103.4(GYS1):c.162_163del (p.Asp56Argfs) rs587777375
NM_002206.2(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529
NM_002222.5(ITPR1):c.3822C>T (p.Asn1274=) rs182840163
NM_002241.4(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074
NM_002693.2(POLG):c.156_158dupGCA (p.Gln55_Pro56insGln) rs41550117
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) rs769827124
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_002834.4(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002977.3(SCN9A):c.1964A>G (p.Lys655Arg) rs121908919
NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) rs141268327
NM_003000.2(SDHB):c.178A>G (p.Thr60Ala) rs34599281
NM_003060.3(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732
NM_003124.4(SPR):c.628C>T (p.Arg210Trp) rs200845457
NM_003156.3(STIM1):c.1928G>A (p.Arg643His) rs140080199
NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003494.3(DYSF):c.2810+1G>A rs199954546
NM_003494.3(DYSF):c.383G>A (p.Gly128Glu) rs34997054
NM_003560.3(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_003560.3(PLA2G6):c.991G>A (p.Asp331Asn) rs199935023
NM_003895.3(SYNJ1):c.2023G>A (p.Val675Ile) rs373820739
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004006.2(DMD):c.9479G>A (p.Arg3160His) rs771392678
NM_004321.7(KIF1A):c.223C>T (p.Arg75Trp) rs778224699
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004328.4(BCS1L):c.613G>A (p.Val205Ile) rs148278887
NM_004366.5(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_004370.5(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277
NM_004519.3(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004562.2(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_004586.2(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe) rs150401343
NM_004992.3(MECP2):c.-143_-138dup rs398123566
NM_004992.3(MECP2):c.1163_1197del35 (p.Pro388Hisfs) rs267608589
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_005105.4(RBM8A):c.-21G>A rs139428292
NM_005105.4(RBM8A):c.67+32G>C rs201779890
NM_005120.2(MED12):c.6256_6258dupCAG (p.Gln2086_Ile2087insGln) rs786200971
NM_005272.3(GNAT2):c.481C>T (p.Arg161Ter) rs745308973
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_005603.6(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006
NM_005687.4(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_005943.4(MOCS1):c.*365_*366del rs397518419
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755
NM_006019.3(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526
NM_006214.3(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006245.3(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266
NM_006343.2(MERTK):c.1450G>A (p.Gly484Ser) rs527236084
NM_006432.4(NPC2):c.190+5G>A rs80358268
NM_006493.2(CLN5):c.524T>G (p.Leu175Ter) rs386833972
NM_006623.3(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007215.3(POLG2):c.1417G>A (p.Asp473Asn) rs563130304
NM_007294.3(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.3(BRCA1):c.1504_1508delTTAAA (p.Leu502Alafs) rs80357888
NM_007294.3(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.3(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.3(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_012210.3(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835
NM_012414.3(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167
NM_014043.3(CHMP2B):c.85A>G (p.Ile29Val) rs63750818
NM_014467.2(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014625.3(NPHS2):c.467dup (p.Leu156Phefs) rs528833893
NM_014985.3(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_015047.2(EMC1):c.245C>T (p.Thr82Met) rs869320625
NM_015120.4(ALMS1):c.72_77dupGGAGGA (p.Glu29_Ala30insGluGlu) rs55889738
NM_015335.4(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015426.4(POC1A):c.241C>T (p.Arg81Ter) rs397514487
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.2(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015570.3(AUTS2):c.1295C>A (p.Pro432His) rs767529359
NM_016035.4(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016042.3(EXOSC3):c.572G>A (p.Gly191Asp) rs797045567
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016218.3(POLK):c.410C>T (p.Ser137Phe) rs863225454
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016335.4(PRODH):c.1562A>G (p.Gln521Arg) rs450046
NM_016335.4(PRODH):c.865T>A (p.Leu289Met) rs137852934
NM_016953.3(PDE11A):c.919C>T (p.Arg307Ter) rs76308115
NM_017613.3(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017613.3(DONSON):c.82A>C (p.Ser28Arg) rs768071555
NM_017636.3(TRPM4):c.1150+1G>A rs200132598
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter) rs572380130
NM_017721.4(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054
NM_017721.4(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391
NM_017745.5(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_017777.3(MKS1):c.515+1G>A rs201933838
NM_017825.3(ADPRHL2):c.1004T>G (p.Val335Gly)
NM_018136.4(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436
NM_018136.4(ASPM):c.933C>G (p.Ser311Arg) rs563858170
NM_018538.3(ERMAP):c.169G>A (p.Gly57Arg) rs56025238
NM_018706.6(DHTKD1):c.467dupA (p.Thr157Aspfs) rs1554791360
NM_018941.3(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019109.4(ALG1):c.827G>A (p.Arg276Gln) rs201975029
NM_020041.2(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321
NM_020549.4(CHAT):c.620G>A (p.Arg207His) rs764497513
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His)
NM_020705.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_020944.2(GBA2):c.786+9C>A rs374309697
NM_022336.3(EDAR):c.1024+16delA rs3833574
NM_022336.3(EDAR):c.1056C>T (p.Cys352=) rs12623957
NM_022336.3(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022336.3(EDAR):c.750C>T (p.Ser250=) rs260632
NM_024312.4(GNPTAB):c.3250-2A>G rs875989952
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.3068dup (p.Glu1026Argfs) rs312262752
NM_025265.3(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_032354.4(TMEM107):c.*755C>T rs75008470
NM_032645.4(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_033056.3(PCDH15):c.2367_2369delTGT (p.Val790del) rs483352837
NM_033071.3(SYNE1):c.14050C>T (p.Leu4684Phe) rs41301343
NM_033629.5(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_033629.6(TREX1):c.-26-1G>A
NM_052845.3(MMAB):c.571C>T (p.Arg191Trp) rs376128990
NM_080645.2(COL12A1):c.1796A>G (p.Asn599Ser) rs755536829
NM_133436.3(ASNS):c.146G>A (p.Arg49Gln) rs769236847
NM_138691.2(TMC1):c.236+1G>A rs775428246
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144773.3(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_145262.3(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448
NM_152419.2(HGSNAT):c.1345dupG (p.Asp449Glyfs) rs483352894
NM_152490.4(B3GALNT2):c.169G>A (p.Val57Met) rs142756842
NM_152618.2(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_153676.3(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_170707.3(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_176787.4(PIGN):c.996T>G (p.Ile332Met) rs1060499763
NM_177924.4(ASAH1):c.125C>T (p.Thr42Met) rs145873635
NM_182894.2(VSX2):c.679C>T (p.Arg227Trp) rs121912545
NM_182914.2(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398
NM_194248.2(OTOF):c.245G>A (p.Arg82His) rs149766574
NM_194248.2(OTOF):c.2498A>T (p.Gln833Leu) rs191568463
NM_194442.2(LBR):c.1114C>T (p.Arg372Cys) rs200180113
NM_198239.1(CCN6):c.794_795delGT (p.Cys265Leufs) rs727503755
NM_207122.1(EXT2):c.1178G>A (p.Arg393Gln) rs138187791
NM_213599.2(ANO5):c.155A>G rs143777403
NM_213607.2(CCDC103):c.461A>C (p.His154Pro) rs145457535
m.9804G>A rs200613617

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