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
105 141 1 118 86 4 57 219

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 risk factor other
pathogenic 1 29 3 0 0 0 0
likely pathogenic 22 0 29 1 0 0 0
uncertain significance 12 18 0 47 14 1 0
likely benign 3 0 32 0 40 1 1
benign 1 0 5 27 0 0 0
other 1 1 1 1 1 1 0

Submitter to submitter summary #

Total submitters: 60
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 0 140 0 44 39 2 25 110
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 165 0 35 22 1 19 77
GeneDx 0 172 0 34 24 0 14 72
Ambry Genetics 0 133 0 31 19 1 6 57
Biesecker Lab/Human Development Section,National Institutes of Health 0 45 0 13 18 1 1 33
Illumina Clinical Services Laboratory,Illumina 0 20 0 22 8 1 1 32
Color 0 22 0 10 13 0 4 27
Blueprint Genetics, 0 27 0 7 8 1 9 25
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 41 0 8 9 2 5 24
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 37 0 10 11 0 3 24
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 31 0 9 8 0 5 22
OMIM 0 14 0 5 2 3 13 21
Integrated Genetics/Laboratory Corporation of America 0 30 0 7 8 1 2 18
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 4 0 7 2 0 2 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 26 0 4 4 1 1 10
PreventionGenetics 0 34 0 8 2 0 0 10
CSER_CC_NCGL; University of Washington Medical Center 0 23 0 3 6 0 1 10
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 13 0 3 4 0 1 8
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 7 0 2 2 0 3 7
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 3 0 3 3 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 9 0 3 2 0 1 6
Center for Human Genetics,University of Leuven 0 4 0 5 0 0 1 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 8 0 3 2 0 1 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 4 1 1 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 14 0 4 1 0 0 5
Athena Diagnostics Inc 0 2 0 2 2 0 0 4
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 4 0 1 2 0 1 4
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 8 0 1 0 0 3 4
Fulgent Genetics 0 22 0 3 0 0 0 3
Center for Medical Genetics Ghent,University of Ghent 0 5 0 2 0 0 1 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 4 0 0 3 0 0 3
Center for Human Genetics, Inc 0 2 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 2 0 1 1 0 0 2
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 0 0 2 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 0 0 0 0 2 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 3 0 0 2 0 0 2
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 1 1 0 0 2
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 0 0 2 0 0 0 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 0 0 2 0 0 0 2
Iberoamerican FH Network 0 0 0 1 1 0 0 2
ClinGen RASopathy Variant Curation Expert Panel, 0 1 0 2 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 0 2 0 0 0 2
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
GeneReviews 0 1 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 0 0 0 0 1 0 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 0 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 2 0 0 0 0 1 1
Medical Research Institute,Tokyo Medical and Dental University 0 0 0 0 0 1 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 1 0 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
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 1 0 0 0 1
Phosphorus, Inc. 0 4 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
Fundacion Hipercolesterolemia Familiar 0 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 2 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 219
Download table as spreadsheet
HGVS dbSNP
NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
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.5076_5078delAAG (p.Arg1692del) rs1555396789
NM_000138.4(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458
NM_000218.2(KCNQ1):c.1135T>C (p.Trp379Arg) rs199472768
NM_000218.2(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.2(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187
NM_000218.2(KCNQ1):c.919_921+9delGTGGTAAGTCGG rs794728557
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.2863C>G (p.Leu955Val) rs199473012
NM_000238.3(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
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.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
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.2670G>A (p.Trp890Ter) rs397515982
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.3407_3409delACT (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878
NM_000256.3(MYBPC3):c.357delA (p.Ala120Profs) rs869025463
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
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.551dupT (p.Lys185Glufs) 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.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000257.3(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.3(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.3(MYH7):c.1816G>A (p.Val606Met) rs121913627
NM_000257.3(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.3(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540
NM_000257.3(MYH7):c.4817G>A (p.Arg1606His) rs373514686
NM_000257.3(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.3(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
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.2681A>G (p.Glu894Gly) rs397516161
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000363.4(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.4(TNNI3):c.557G>A (p.Arg186Gln) rs397516357
NM_000363.4(TNNI3):c.592C>G (p.Leu198Val) rs727504285
NM_000364.3(TNNT2):c.68-5_68-3delinsTT rs397516362
NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000384.2(APOB):c.6639_6641delTGA (p.Asp2213del) rs541497967
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.259T>G (p.Trp87Gly) rs121908025
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000719.6(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948
NM_001001430.2(TNNT2):c.330T>G (p.Phe110Leu) rs727504331
NM_001001430.2(TNNT2):c.518G>A (p.Arg173Gln) rs397516471
NM_001001430.2(TNNT2):c.754G>A (p.Glu252Lys) rs727504488
NM_001001430.2(TNNT2):c.773A>T (p.Lys258Ile) rs397516482
NM_001001430.2(TNNT2):c.860G>A (p.Trp287Ter) rs727504247
NM_001005242.2(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001010874.4(TECRL):c.587G>A (p.Arg196Gln) rs773204795
NM_001018004.1(TPM1):c.775A>G (p.Lys259Glu) rs144045691
NM_001018005.1(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001018005.1(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001035.2(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.2(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871
NM_001035.2(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.2(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663
NM_001080114.1(LDB3):c.1205A>C (p.Gln402Pro) rs138951890
NM_001080114.1(LDB3):c.781G>A (p.Ala261Thr) rs45539535
NM_001103.3(ACTN2):c.1235C>T (p.Thr412Met) rs139515659
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_001122606.1(LAMP2):c.1093+2514G>A rs144140265
NM_001134363.2(RBM20):c.1286T>C (p.Leu429Pro) rs61735272
NM_001134363.2(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001134363.2(RBM20):c.1907G>A (p.Arg636His) rs267607004
NM_001134363.2(RBM20):c.3261_3262delCCinsG (p.Ser1087Argfs) rs727504763
NM_001134363.2(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219
NM_001134363.2(RBM20):c.3623C>T (p.Ala1208Val) rs397516618
NM_001134363.2(RBM20):c.3667G>C (p.Glu1223Gln) rs942077
NM_001134363.2(RBM20):c.90G>A (p.Arg30=) rs35141404
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001148.4(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340
NM_001148.4(ANK2):c.9286A>G (p.Ser3096Gly) rs144158934
NM_001232.3(CASQ2):c.421-15C>G rs199939582
NM_001256850.1(TTN):c.21794_21795delCT (p.Ser7265Trpfs) rs779549899
NM_001256850.1(TTN):c.35228_35245del18 (p.Ile11743_Glu11748del) rs139512154
NM_001256850.1(TTN):c.39349C>T (p.Arg13117Ter) rs140743001
NM_001256850.1(TTN):c.48730G>T (p.Glu16244Ter) rs727503607
NM_001256850.1(TTN):c.92569+1G>C rs727505319
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001267550.2(TTN):c.30683-2del1 rs1553868981
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001306210.1(TGFBR1):c.70_78delGCGGCGGCG rs11466445
NM_001943.4(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.4(DSG2):c.1550C>T (p.Ala517Val) rs200509948
NM_001943.4(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.4(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.4(DSG2):c.391G>A (p.Ala131Thr) rs373542380
NM_002230.2(JUP):c.2089A>T (p.Met697Leu) rs1126821
NM_002230.2(JUP):c.213T>C (p.Asp71=) rs7405731
NM_002230.3(JUP):c.1507G>A (p.Gly503Ser) rs376051686
NM_002290.4(LAMA4):c.1256T>C (p.Met419Thr) rs200112094
NM_002294.2(LAMP2):c.586A>T (p.Thr196Ser) rs138991195
NM_002294.2(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002294.2(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
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.3010G>T (p.Ala1004Ser) rs143978652
NM_002471.3(MYH6):c.3302T>C (p.Val1101Ala) rs365990
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.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.5598A>G (p.Leu1866=) rs17091278
NM_002471.3(MYH6):c.635C>T (p.Ala212Val) rs780456381
NM_002471.3(MYH6):c.824T>A (p.Ile275Asn) rs201327273
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_003242.5(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.5(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003476.4(CSRP3):c.10T>C (p.Trp4Arg) rs45550635
NM_003673.3(TCAP):c.313G>C (p.Glu105Gln) rs146906267
NM_003673.3(TCAP):c.37_39delGAG (p.Glu13del) rs397516862
NM_004006.2(DMD):c.2291A>G (p.Asn764Ser) rs199588981
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_004415.3(DSP):c.2596C>T (p.Arg866Cys) rs142429411
NM_004415.3(DSP):c.3923G>A (p.Arg1308Gln) rs184154918
NM_004415.3(DSP):c.5167G>C (p.Glu1723Gln) rs142803672
NM_004415.3(DSP):c.5218G>A (p.Glu1740Lys) rs142885240
NM_004415.3(DSP):c.5555G>A (p.Arg1852His) rs193922669
NM_004415.3(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.3(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
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.1759G>A (p.Val587Ile) rs146102241
NM_004572.3(PKP2):c.2299+1G>A rs794729116
NM_004572.3(PKP2):c.2509delA (p.Ser837Valfs) rs727504432
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_005572.3(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_005751.4(AKAP9):c.2945C>A (p.Ser982Tyr) rs374340343
NM_005902.3(SMAD3):c.207-26869C>A rs958007552
NM_005902.3(SMAD3):c.508A>G (p.Ile170Val) rs35874463
NM_007078.2(LDB3):c.1606G>A (p.Val536Ile) rs113817827
NM_007078.2(LDB3):c.1609delC (p.Gln537Argfs) rs727503129
NM_014000.2(VCL):c.1555A>C (p.Ile519Leu) rs141033098
NM_014000.2(VCL):c.590C>T (p.Thr197Ile) rs189242810
NM_014391.2(ANKRD1):c.319G>T (p.Val107Leu) rs114435632
NM_014391.2(ANKRD1):c.827C>T (p.Ala276Val) rs35550482
NM_016203.3(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521
NM_017636.3(TRPM4):c.2283_2294delCCGCTGCGGGGG (p.Cys763_Arg766del) rs113100797
NM_017636.3(TRPM4):c.618G>A (p.Ser206=) rs142788545
NM_017636.3(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_021991.3(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_021991.3(JUP):c.425G>A (p.Arg142His) rs41283425
NM_024422.4(DSC2):c.172T>G (p.Phe58Val) rs138749562
NM_024422.4(DSC2):c.1787C>T (p.Ala596Val) rs148185335
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.216C>G (p.Cys72Trp) rs116840776
NM_033337.2(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_053025.3(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_133379.3(TTN):c.15285_15317dup (p.Glu5112_Ala5113insThrLeuGluArgTyrSerThrProProGlyGlu) rs397517815
NM_144573.3(NEXN):c.733G>A (p.Gly245Arg) rs1166698
NM_144573.3(NEXN):c.856C>T (p.Arg286Trp) rs199917913
NM_170707.3(LMNA):c.1609-3C>G rs267607581
NM_170707.3(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_198056.2(SCN5A):c.1428_1431delCAAG (p.Ser476Argfs) rs794728906
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.5494C>G (p.Gln1832Glu) rs199473320
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

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