ClinVar Miner

Variants from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute with conflicting interpretations

Location: Canada — Primary collection method: clinical testing
Minimum review status of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute: Collection method of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute:
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
190 232 1 230 170 9 105 422

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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other
pathogenic 1 54 6 1 0 0 0 0
likely pathogenic 37 0 46 3 1 0 0 0
uncertain significance 25 30 0 98 31 0 1 0
likely benign 4 2 60 0 83 0 1 1
benign 1 0 9 56 0 0 1 0
risk factor 3 1 2 2 1 2 0 2
other 1 1 1 1 1 0 1 0

Submitter to submitter summary #

Total submitters: 80
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 0 287 0 89 79 4 35 207
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 260 0 66 41 3 29 139
GeneDx 0 287 0 54 39 1 25 119
Ambry Genetics 0 213 0 54 36 3 10 103
Illumina Clinical Services Laboratory,Illumina 0 42 0 46 24 2 3 74
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 79 0 21 31 2 2 56
Color 0 75 0 18 27 1 7 53
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 67 0 20 19 5 5 49
Blueprint Genetics 0 62 0 15 10 1 17 43
Integrated Genetics/Laboratory Corporation of America 0 55 0 16 18 3 2 39
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 55 0 15 18 1 5 39
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 32 0 18 20 1 0 39
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 53 0 19 13 0 6 38
OMIM 0 28 0 7 3 7 21 36
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 50 0 17 12 1 4 34
CeGaT Praxis fuer Humangenetik Tuebingen 0 37 0 0 20 2 6 28
Mendelics 0 26 0 13 8 1 3 25
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 13 0 11 5 0 3 19
PreventionGenetics,PreventionGenetics 0 58 0 15 3 0 0 18
CSER _CC_NCGL, University of Washington 0 34 0 9 8 0 1 18
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 13 0 10 6 0 0 16
Robarts Research Institute,Western University 0 9 0 9 6 0 1 16
Athena Diagnostics Inc 0 11 0 9 5 1 0 15
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 17 0 6 2 0 7 15
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 10 0 7 2 1 1 11
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 20 0 6 2 0 1 9
LDLR-LOVD, British Heart Foundation 0 10 0 7 1 0 1 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 24 0 4 4 0 1 9
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 6 0 6 1 0 1 8
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 23 0 7 1 0 0 8
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 10 0 4 0 0 3 7
Genetic Services Laboratory, University of Chicago 0 7 0 2 4 0 0 6
Quest Diagnostics Nichols Institute San Juan Capistrano 0 6 0 2 4 0 0 6
Center for Medical Genetics Ghent,University of Ghent 0 9 0 4 0 0 2 6
Center for Human Genetics,University of Leuven 0 8 0 5 0 0 1 6
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 4 0 4 2 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 1 2 1 2 6
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 11 0 2 1 0 3 6
Iberoamerican FH Network 0 2 0 3 1 0 1 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 6 0 2 0 1 1 4
Fulgent Genetics,Fulgent Genetics 0 35 0 3 1 0 0 4
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 11 0 3 0 0 1 4
Fundacion Hipercolesterolemia Familiar 0 3 0 4 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 3 0 1 2 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 5 0 0 3 0 0 3
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 4 0 3 0 0 0 3
Phosphorus, Inc. 0 5 0 1 1 0 1 3
Center for Human Genetics, Inc 0 3 0 2 0 0 0 2
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 6 0 2 0 0 0 2
GeneReviews 0 2 1 0 0 0 1 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 0 0 0 0 2 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 3 0 1 0 1 0 2
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 1 0 0 1 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 1 0 0 1 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 1 0 1 0 0 1 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 1 0 1 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 2 0 0 0 2
ClinGen RASopathy Variant Curation Expert Panel 0 1 0 2 0 0 0 2
Gharavi Laboratory,Columbia University 0 2 0 2 0 0 0 2
Pharmacogenomics Lab,Chungbuk National University 0 0 0 0 0 2 0 2
Klaassen Lab,Charite University Medicine Berlin 0 0 0 1 1 0 0 2
Baylor Genetics 0 1 0 0 0 0 1 1
Collagen Diagnostic Laboratory,University of Washington 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 1 0 0 0 1
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 48 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 0 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 6 0 0 0 0 1 1
Medical Research Institute,Tokyo Medical and Dental University 0 1 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 1 0 0 1
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 0 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 0 0 0 0 1 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 3 0 0 1 0 0 1
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 1 0 1 0 0 0 1
Cardiology unit,Meyer University Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 422
Download table as spreadsheet
HGVS dbSNP
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358
NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000109.4(DMD):c.*23_*35del rs752332058
NM_000138.4(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.4(FBN1):c.2080G>T (p.Glu694Ter) rs1060501024
NM_000138.4(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.4(FBN1):c.2216G>A (p.Cys739Tyr) rs1555399378
NM_000138.4(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.4(FBN1):c.5073_5075AAG[1] (p.Arg1692del) rs1555396789
NM_000138.4(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1622dup (p.Glu542fs) rs1555122143
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.221C>TT rs1555123743
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.2994G>A (p.Gln998=) rs1555120639
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile) rs397516002
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664
NM_000256.3(MYBPC3):c.3404_3406ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878
NM_000256.3(MYBPC3):c.357del (p.Ala120fs) rs869025463
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) rs551888783
NM_000256.3(MYBPC3):c.3694A>T (p.Lys1232Ter) rs397516035
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser) rs730880573
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.821+1G>A rs397516073
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile) rs727503262
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) rs121913630
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187
NM_000257.4(MYH7):c.3592G>T (p.Asp1198Tyr) rs730880778
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) rs373514686
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu) rs727503277
NM_000257.4(MYH7):c.646C>G (p.Leu216Val) rs772488436
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000258.2(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285
NM_000364.4(TNNT2):c.445C>T (p.Arg149Cys) rs397516465
NM_000364.4(TNNT2):c.490-1G>C rs111344408
NM_000364.4(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_000364.4(TNNT2):c.68-5_68-3delinsTT rs397516362
NM_000364.4(TNNT2):c.755C>T (p.Ala252Val) rs369181536
NM_000364.4(TNNT2):c.775G>A (p.Glu259Lys) rs727504488
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.3(APOB):c.13477_13479CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu) rs12714214
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu) rs12714097
NM_000384.3(APOB):c.26_34TGGCGCTGC[1] (p.9_11LAL[1]) rs17240441
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser) rs72653077
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser) rs1801699
NM_000384.3(APOB):c.6636_6638TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr) rs72653092
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095
NM_000384.3(APOB):c.9445G>A (p.Asp3149Asn) rs759354804
NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser) rs142422341
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000527.4(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
NM_000527.4(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.4(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.4(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.4(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.4(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.4(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) rs201777030
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948
NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala) rs35131433
NM_001005242.2(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) rs773204795
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu) rs144045691
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871
NM_001035.3(RYR2):c.5756G>A (p.Arg1919Gln) rs199893812
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=) rs755520825
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663
NM_001080116.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335
NM_001103.3(ACTN2):c.1235C>T (p.Thr412Met) rs139515659
NM_001103.3(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154
NM_001103.3(ACTN2):c.1307A>C (p.Glu436Ala) rs199955427
NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) rs121434525
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr) rs200112094
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) rs200271618
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219
NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val) rs397516618
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) rs942077
NM_001134363.3(RBM20):c.90G>A (p.Arg30=) rs35141404
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu) rs149678604
NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly) rs144158934
NM_001232.3(CASQ2):c.421-15C>G rs199939582
NM_001234.5(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_001256850.1(TTN):c.92569+1G>C rs727505319
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001267550.2(TTN):c.104950del (p.Glu34984fs) rs727503533
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279
NM_001267550.2(TTN):c.11311+5478T>G rs72648908
NM_001267550.2(TTN):c.11312-5194_11312-5162dup rs397517815
NM_001267550.2(TTN):c.22743_22744CT[1] (p.Ser7582fs) rs779549899
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476
NM_001267550.2(TTN):c.39731_39748TTGCTCCTGAAGAGGAAA[1] (p.13244_13249IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.40576_40578GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.587_589AAG[2] (p.Glu198del) rs771898264
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.91839dup (p.Val30614fs) rs730880365
NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=) rs182422055
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) rs727504331
NM_001276345.2(TNNT2):c.451del (p.Arg151fs) rs730881115
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile) rs397516482
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247
NM_001354691.2(RAF1):c.-7_-6delinsAT rs876657965
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe) rs141405267
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser) rs376051686
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821
NM_002230.4(JUP):c.213T>C (p.Asp71=) rs7405731
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425
NM_002471.3(MYH6):c.1108C>T (p.Arg370Trp) rs753444140
NM_002471.3(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.3(MYH6):c.166G>A (p.Gly56Arg) rs28711516
NM_002471.3(MYH6):c.1763A>C (p.Asp588Ala) rs142992009
NM_002471.3(MYH6):c.2579G>A (p.Arg860His) rs115845031
NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002471.3(MYH6):c.3195G>C (p.Gln1065His) rs267606904
NM_002471.3(MYH6):c.3302T>C (p.Val1101Ala) rs365990
NM_002471.3(MYH6):c.3347G>A (p.Arg1116His) rs369247906
NM_002471.3(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550
NM_002471.3(MYH6):c.4011G>A (p.Ser1337=) rs451794
NM_002471.3(MYH6):c.4136C>T (p.Thr1379Met) rs145611185
NM_002471.3(MYH6):c.4369G>A (p.Glu1457Lys) rs267606905
NM_002471.3(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506
NM_002471.3(MYH6):c.4527G>A (p.Glu1509=) rs34855944
NM_002471.3(MYH6):c.4595G>T (p.Arg1532Leu) rs34330111
NM_002471.3(MYH6):c.4778A>T (p.Gln1593Leu) rs45574136
NM_002471.3(MYH6):c.4838T>C (p.Val1613Ala) rs61742476
NM_002471.3(MYH6):c.4914T>C (p.Ala1638=) rs178640
NM_002471.3(MYH6):c.4986G>A (p.Ala1662=) rs77416370
NM_002471.3(MYH6):c.5476_5477delinsAA (p.Gly1826Asn) rs878854502
NM_002471.3(MYH6):c.5598A>G (p.Leu1866=) rs17091278
NM_002471.3(MYH6):c.622G>A (p.Asp208Asn) rs142027794
NM_002471.3(MYH6):c.635C>T (p.Ala212Val) rs780456381
NM_002471.3(MYH6):c.824T>A (p.Ile275Asn) rs201327273
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002880.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_002880.3(RAF1):c.923C>T (p.Pro308Leu) rs5746220
NM_003239.4(TGFB3):c.293C>T (p.Ser98Leu) rs142047577
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003319.4(TTN):c.13282+39166del rs1553868981
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) rs7124801
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg) rs185980145
NM_003673.3(TCAP):c.313G>C (p.Glu105Gln) rs146906267
NM_003673.3(TCAP):c.34_36GAG[1] (p.Glu13del) rs397516862
NM_004006.2(DMD):c.1028G>A (p.Arg343His) rs61733589
NM_004006.2(DMD):c.1731A>T (p.Glu577Asp) rs150199251
NM_004006.2(DMD):c.1934A>G (p.Asp645Gly) rs147822019
NM_004006.2(DMD):c.2143A>T (p.Thr715Ser) rs16998350
NM_004006.2(DMD):c.2291A>G (p.Asn764Ser) rs199588981
NM_004006.2(DMD):c.2391T>G (p.Asn797Lys) rs72468681
NM_004006.2(DMD):c.2827C>T (p.Arg943Cys) rs199986217
NM_004006.2(DMD):c.3419A>T (p.His1140Leu) rs201297190
NM_004006.2(DMD):c.4529A>G (p.Lys1510Arg) rs72468638
NM_004006.2(DMD):c.6571C>T (p.Arg2191Trp) rs149322279
NM_004006.2(DMD):c.7712G>A (p.Arg2571Gln) rs371588290
NM_004006.2(DMD):c.9352G>T (p.Ala3118Ser) rs200928985
NM_004281.3(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.3(BAG3):c.463G>A (p.Ala155Thr) rs61756328
NM_004281.3(BAG3):c.653G>A (p.Arg218Gln) rs201638005
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.4(DSP):c.5555G>A (p.Arg1852His) rs193922669
NM_004415.4(DSP):c.5744G>A (p.Arg1915His) rs146617683
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.4(DSP):c.8496_8507ATCTCGCTCCGG[1] (p.2827_2830SGSR[4]) rs397516971
NM_004415.4(DSP):c.939+1G>A rs727504443
NM_004572.3(PKP2):c.1576A>G (p.Thr526Ala) rs397516999
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884
NM_004572.3(PKP2):c.1759G>A (p.Val587Ile) rs146102241
NM_004572.3(PKP2):c.2062T>C (p.Ser688Pro) rs144601090
NM_004572.3(PKP2):c.2299+1G>A rs794729116
NM_004572.3(PKP2):c.2392A>G (p.Thr798Ala) rs112592855
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004572.3(PKP2):c.791C>T (p.Ala264Val) rs62001016
NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_004612.4(TGFBR1):c.52_54GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004980.4(KCND3):c.5C>A (p.Ala2Glu) rs201340369
NM_005691.3(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969
NM_005691.3(ABCC9):c.4570T>A (p.Leu1524Ile) rs139703258
NM_005691.3(ABCC9):c.4571T>A (p.Leu1524Ter) rs150631550
NM_005691.3(ABCC9):c.4572_4573insT (p.Val1525fs) rs761784169
NM_005751.4(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633
NM_005751.4(AKAP9):c.2945C>A (p.Ser982Tyr) rs374340343
NM_005751.4(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935
NM_005751.4(AKAP9):c.80C>T (p.Ser27Leu) rs142401936
NM_005902.4(SMAD3):c.207-26869C>A rs958007552
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463
NM_006073.4(TRDN):c.1598-6dup rs147062785
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr) rs45539535
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890
NM_007078.3(LDB3):c.1606G>A (p.Val536Ile) rs113817827
NM_007078.3(LDB3):c.1609del (p.Gln537fs) rs727503129
NM_007078.3(LDB3):c.273G>A (p.Thr91=) rs45613039
NM_013995.2(LAMP2):c.1171G>A (p.Val391Ile) rs144140265
NM_013995.2(LAMP2):c.586A>T (p.Thr196Ser) rs138991195
NM_013995.2(LAMP2):c.591G>A (p.Val197=) rs201030806
NM_013995.2(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_013995.2(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_014000.2(VCL):c.1555A>C (p.Ile519Leu) rs141033098
NM_014000.2(VCL):c.2827C>G (p.Pro943Ala) rs71579375
NM_014000.2(VCL):c.590C>T (p.Thr197Ile) rs189242810
NM_014000.2(VCL):c.829C>A (p.Leu277Met) rs71579353
NM_014391.2(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751
NM_014391.2(ANKRD1):c.319G>T (p.Val107Leu) rs114435632
NM_014391.2(ANKRD1):c.827C>T (p.Ala276Val) rs35550482
NM_015627.2(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521
NM_016492.5(RANGRF):c.181G>T (p.Glu61Ter) rs140704891
NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1]) rs113100797
NM_017636.4(TRPM4):c.618G>A (p.Ser206=) rs142788545
NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys) rs145771389
NM_020433.4(JPH2):c.1380G>A (p.Ala460=) rs531877510
NM_020433.4(JPH2):c.572C>G (p.Pro191Arg) rs554853074
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355
NM_024334.2(TMEM43):c.169G>A (p.Ala57Thr) rs151010429
NM_024334.2(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492
NM_024334.2(TMEM43):c.82C>T (p.Arg28Trp) rs35028636
NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp) rs113449357
NM_024334.2(TMEM43):c.953C>T (p.Ala318Val) rs11924644
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.608G>A (p.Arg203His) rs758527425
NM_032578.3(MYPN):c.1790G>A (p.Arg597His) rs150911078
NM_032578.3(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_032578.3(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730
NM_032578.3(MYPN):c.59A>G (p.Tyr20Cys) rs140148105
NM_033337.2(CAV3):c.-1G>A rs74377241
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033337.2(CAV3):c.443G>A (p.Arg148Gln) rs140575619
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_144573.3(NEXN):c.733G>A (p.Gly245Arg) rs1166698
NM_144573.3(NEXN):c.856C>T (p.Arg286Trp) rs199917913
NM_147185.3(AKAP9):c.4004_4006dup (p.Leu1336_Glu1337insGln) rs10644111
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906
NM_172056.2(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_172056.2(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_172056.2(KCNH2):c.66dup (p.Glu23Ter) rs1554431441
NM_172057.2(KCNH2):c.1433C>T (p.Ser478Leu) rs121912510
NM_172057.2(KCNH2):c.1670A>C (p.Lys557Thr) rs1805123
NM_172057.2(KCNH2):c.1718C>T (p.Ala573Val) rs77331749
NM_172057.2(KCNH2):c.1843C>G (p.Leu615Val) rs199473012
NM_172057.2(KCNH2):c.2105T>C (p.Leu702Pro) rs886039064
NM_172057.2(KCNH2):c.2120G>T (p.Arg707Leu) rs36210421
NM_172201.1(KCNE2):c.22A>G (p.Thr8Ala) rs2234916
NM_174936.3(PCSK9):c.1405C>T (p.Arg469Trp) rs141502002
NM_174936.3(PCSK9):c.63_65dupGCT rs35574083
NM_181798.1(KCNQ1):c.1132C>T (p.Gln378Ter) rs397508091
NM_181798.1(KCNQ1):c.1319T>C (p.Ile440Thr) rs199472805
NM_181798.1(KCNQ1):c.517G>A (p.Ala173Thr) rs120074187
NM_181798.1(KCNQ1):c.538_540+9del rs794728557
NM_181798.1(KCNQ1):c.643C>T (p.Leu215Phe) rs199472760
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) rs12720458
NM_181798.1(KCNQ1):c.754T>C (p.Trp252Arg) rs199472768
NM_198056.2(SCN5A):c.1141-3C>A rs41312433
NM_198056.2(SCN5A):c.1428_1431del (p.Ser476fs) rs794728906
NM_198056.2(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230
NM_198056.2(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691
NM_198056.2(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124
NM_198056.2(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_198056.2(SCN5A):c.2678G>A (p.Arg893His) rs199473172
NM_198056.2(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198056.2(SCN5A):c.3578G>A (p.Arg1193Gln) rs41261344
NM_198056.2(SCN5A):c.3878T>C (p.Phe1293Ser) rs41311127
NM_198056.2(SCN5A):c.4981G>A (p.Gly1661Arg) rs199473292
NM_198056.2(SCN5A):c.52C>T (p.Arg18Trp) rs199473044
NM_198056.2(SCN5A):c.5360G>A (p.Ser1787Asn) rs199473316
NM_198056.2(SCN5A):c.5494C>G (p.Gln1832Glu) rs199473320
NM_198056.2(SCN5A):c.5851G>T (p.Val1951Leu) rs41315493
NM_198056.2(SCN5A):c.5938G>T (p.Val1980Phe) rs772258197
NM_198056.2(SCN5A):c.6010T>C (p.Phe2004Leu) rs41311117
NM_198056.2(SCN5A):c.656G>A (p.Arg219His) rs878855296
NM_198056.2(SCN5A):c.659C>T (p.Thr220Ile) rs45620037

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.