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 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
1559 309 12 125 87 7 130 326

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 drug response risk factor other
pathogenic 10 41 23 2 4 3 1 1
likely pathogenic 65 2 24 4 1 0 0 0
uncertain significance 55 34 0 39 27 0 3 0
likely benign 5 0 16 0 11 0 0 0
benign 2 0 9 9 0 0 0 0

Submitter to submitter summary #

Total submitters: 96
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 0 138 0 26 36 0 42 104
OMIM 0 69 0 31 3 4 43 80
Illumina Clinical Services Laboratory,Illumina 0 70 0 12 26 0 13 50
GeneReviews 0 21 10 12 1 0 7 30
Counsyl 0 38 0 17 1 0 10 28
Baylor Genetics 0 45 0 15 1 0 11 27
GeneDx 0 24 0 7 5 0 15 27
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 16 0 6 6 0 8 20
Mendelics 0 25 0 4 2 0 11 17
Integrated Genetics/Laboratory Corporation of America 0 34 0 7 2 0 6 15
Natera, Inc. 0 23 0 4 5 0 6 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 10 0 3 3 0 6 12
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 31 0 4 5 0 3 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 16 0 5 4 0 3 12
Fulgent Genetics,Fulgent Genetics 0 26 0 5 0 0 6 11
PreventionGenetics, PreventionGenetics 0 3 0 3 4 0 1 8
Institute of Human Genetics, Klinikum rechts der Isar 0 13 0 3 0 0 4 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 12 0 3 0 0 4 7
Institute of Human Genetics, University of Leipzig Medical Center 0 14 0 3 0 0 4 7
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 3 0 3 0 0 4 7
Genetic Services Laboratory, University of Chicago 0 15 0 1 0 1 4 6
Ambry Genetics 0 5 0 1 3 0 2 6
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 3 0 0 2 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 5 1 1 0 0 4 6
Myriad Women's Health, Inc. 0 21 0 3 0 0 3 6
Breast Cancer Information Core (BIC) (BRCA1) 0 5 0 0 5 0 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 8 0 2 1 0 2 5
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 3 0 2 0 0 3 5
Elsea Laboratory,Baylor College of Medicine 0 2 0 2 0 0 2 4
Centogene AG - the Rare Disease Company 0 2 0 3 0 0 1 4
Sharing Clinical Reports Project (SCRP) 0 15 0 3 1 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 5 0 2 0 0 2 4
SIB Swiss Institute of Bioinformatics 0 1 0 2 0 0 2 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 8 0 3 0 0 1 4
Broad Institute Rare Disease Group, Broad Institute 0 4 0 1 0 0 3 4
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 2 0 0 0 0 4 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 4 0 2 0 0 1 3
Michigan Medical Genetics Laboratories,University of Michigan 0 5 0 3 0 0 0 3
Blueprint Genetics 0 2 0 1 1 0 1 3
PharmGKB 0 0 0 0 0 3 0 3
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 22 0 3 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 4 0 2 0 0 1 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 1 0 0 2 3
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 2 0 2 0 0 1 3
Reproductive Health Research and Development,BGI Genomics 0 2 0 0 0 0 3 3
Nilou-Genome Lab 0 3 0 1 0 0 2 3
Athena Diagnostics Inc 0 5 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 2 0 0 0 0 2 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 1 0 0 0 0 2 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 2 0 0 0 2
RettBASE 0 2 0 1 0 0 1 2
GeneKor MSA 0 1 0 1 1 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 6 0 1 0 0 1 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 0 1 2
Research and Development, ARUP Laboratories 0 1 0 0 0 0 2 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 0 0 0 2 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 6 0 1 0 0 1 2
Johns Hopkins Genomics, Johns Hopkins University 0 3 0 1 0 0 1 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 2 0 0 0 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 4 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 0 0 1 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 5 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
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 9 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2181 12 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 0 0 0 1 1
Pathway Genomics 0 1 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 4 0 0 0 0 1 1
University Children's Hospital, University of Zurich 0 1 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 0 0 0 1 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
Neurology Department,Peking University First Hospital 0 0 0 0 0 0 1 1
Kasturba Medical College, Manipal University 0 0 0 1 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 0 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 1 0 1 0 0 0 1
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 0 0 0 0 0 0 1 1
ClinGen PAH Variant Curation Expert Panel 0 3 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1 1
Uitto Lab,Thomas Jefferson University 0 0 0 1 0 0 0 1
Department of Pediatrics, Gifu University 0 0 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 2 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 0 1 0 0 0 1
Laboratory of Genetics in Ophthalmology,Institut Imagine 0 1 0 0 0 0 1 1
New York Genome Center 0 0 0 0 0 0 1 1
GenomeConnect - Simons Searchlight 0 0 0 1 0 0 0 1
Pediatrics, MediClubGeorgia 0 0 0 1 0 0 0 1
Department of Medical Laboratory Science, Faculty of Allied Health Sciences,University of Peradeniya 0 0 0 0 0 0 1 1
ATS em Genética Clínica,Universidade Federal do Rio Grande do Sul 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 326
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144
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_000047.2(ARSL):c.1189G>A (p.Gly397Arg) rs201424543
NM_000048.4(ASL):c.1079T>C (p.Met360Thr) rs875989948
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs80359306
NM_000059.3(BRCA2):c.6841+80_6841+83del rs11571661
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055
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_000080.4(CHRNE):c.506A>T (p.Gln169Leu) rs148370803
NM_000086.2(CLN3):c.790+3A>C rs386833738
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000104.3(CYP1B1):c.1169G>A (p.Arg390His) rs56010818
NM_000137.4(FAH):c.1062+5G>A rs80338901
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr) rs137853341
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_000243.3(MEFV):c.2080A>G rs61752717
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225
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_000264.5(PTCH1):c.1322G>A (p.Arg441His) rs767273237
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825
NM_000310.3(PPT1):c.535C>T (p.Arg179Cys) rs560471003
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
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_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
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.2027T>A (p.Leu676Gln) rs111033318
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459
NM_000489.5(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000506.5(F2):c.*97G>A rs1799963
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.2(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198
NM_000540.3(RYR1):c.5920C>T (p.Arg1974Trp)
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_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000789.4(ACE):c.2858G>A (p.Arg953Gln) rs143507892
NM_000900.5(MGP):c.157A>G (p.Lys53Glu) rs1801716
NM_000965.4(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs) rs80359859
NM_001017922.2(ERMAP):c.169G>A (p.Gly57Arg) rs56025238
NM_001031726.3(C19orf12):c.424A>G (p.Lys142Glu) rs146170087
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
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_001082.5(CYP4F2):c.648-7C>A rs3093221
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del) rs56717389
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001110792.1(MECP2):c.45_47dupAGG (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
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.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001126105.2(SLC7A7):c.149T>A (p.Met50Lys) rs386833811
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001126131.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_001130987.2(DYSF):c.2864+1G>A rs199954546
NM_001139.3(ALOX12B):c.1566G>T (p.Pro522=) rs936466427
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)
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) rs74315438
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala) rs755371528
NM_001163817.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001165927.1(MKS1):c.485+1G>A rs201933838
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035
NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly) rs529580146
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser) rs146370051
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del) rs727503701
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990
NM_001271208.2(NEB):c.24219+1G>A rs755239192
NM_001271208.2(NEB):c.24325G>T (p.Glu8109Ter) rs1218073575
NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs) rs1344099907
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424
NM_001321336.1(SPATA22):c.-73-12212dup rs756198538
NM_001330504.1(ALG1):c.494G>A (p.Arg165Gln) rs201975029
NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs) rs397518419
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105
NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys) rs763256222
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_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs) rs768027510
NM_001556.3(IKBKB):c.1933C>T (p.Arg645Trp) rs753922163
NM_001609.3(ACADSB):c.1128+3A>T rs760423996
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_001848.3(COL6A1):c.850G>A rs121912938
NM_001849.3(COL6A2):c.1817-8C>A rs750444649
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_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys) rs200180113
NM_002335.4(LRP5):c.199G>A (p.Ala67Thr) rs544861971
NM_002354.3(EPCAM):c.831A>G rs115283528
NM_002618.4(PEX13):c.383G>T (p.Gly128Val) rs554152771
NM_002693.2(POLG):c.3527C>T (p.Ser1176Leu) rs776031396
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_003156.3(STIM1):c.1928G>A (p.Arg643His) rs140080199
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_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004006.2(DMD):c.9479G>A (p.Arg3160His) rs771392678
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056
NM_004369.3(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017
NM_004369.3(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys) rs201299366
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_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser) rs371816961
NM_005105.5(RBM8A):c.-21G>A rs139428292
NM_005105.5(RBM8A):c.67+32G>C rs201779890
NM_005198.4(CHKB):c.138G>T (p.Glu46Asp) rs752292240
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys) rs142016804
NM_005603.6(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_005710.2(PQBP1):c.778C>T (p.Arg260Ter) rs781987043
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273
NM_005957.5(MTHFR):c.379C>T rs769381688
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502
NM_006432.4(NPC2):c.190+5G>A rs80358268
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln)
NM_007055.4(POLR3A):c.1909+22G>A rs191875469
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_012213.3(MLYCD):c.1328G>C (p.Gly443Ala) rs200278015
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167
NM_012470.3(TNPO3):c.2542del (p.Tyr848fs) rs773574448
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
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_014845.5(FIG4):c.834A>T (p.Lys278Asn) rs138048706
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625
NM_015335.4(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) rs200780796
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016035.5(COQ4):c.458C>T (p.Ala153Val)
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498
NM_016327.3(UPB1):c.105-2A>G rs138081800
NM_016335.5(PRODH):c.865T>A (p.Leu289Met) rs137852934
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter) rs572380130
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) rs201735454
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436
NM_018480.5(TMEM126B):c.635G>T (p.Gly212Val) rs141542003
NM_018706.5(DHTKD1):c.2185G>A rs117225135
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_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) rs377320336
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_020987.5(ANK3):c.2902G>C (p.Asp968His) rs730882195
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
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_022915.5(MRPL44):c.313C>T rs144037629
NM_023035.3(CACNA1A):c.4186G>A (p.Val1396Met) rs794727411
NM_024728.2(SUGCT):c.322C>T (p.Arg108Ter) rs137852862
NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly) rs201629827
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) rs11558436
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149
NM_031448.5(C19orf12):c.371dup (p.Met124fs) rs1568326754
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp) rs200389929
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_033380.3(COL4A5):c.2510-33A>G rs104886358
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_052843.4(OBSCN):c.35T>A (p.Phe12Tyr) rs191837710
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634
NM_144772.3(NAXE):c.326dup (p.Thr110fs) rs779820587
NM_144773.3(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
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_172107.4(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.13331G>A (p.Arg4444Gln) rs139075013
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604
NM_198239.2(CCN6):c.740_741del (p.Cys247fs) rs727503755
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) rs1554131502
NM_213599.2(ANO5):c.155A>G rs143777403
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535

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