ClinVar Miner

Variants from Blueprint Genetics, with conflicting interpretations

Location: Finland — Primary collection method: clinical testing
Minimum review status of the submission from Blueprint Genetics,: Collection method of the submission from Blueprint Genetics,:
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
546 258 4 170 169 9 111 396

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
Blueprint Genetics, pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other
pathogenic 3 55 6 2 0 1 2 2
likely pathogenic 71 1 60 7 1 0 1 0
uncertain significance 17 25 0 99 30 0 3 0
likely benign 5 3 60 0 37 0 0 0
benign 1 0 8 7 0 0 0 0
risk factor 1 1 2 3 1 0 0 2

Submitter to submitter summary #

Total submitters: 81
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 0 260 0 62 82 2 37 181
GeneDx 0 237 0 60 74 1 34 168
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 170 0 37 49 3 33 121
Ambry Genetics 0 140 0 35 51 2 25 111
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 48 0 15 16 4 7 42
Color 0 37 0 12 26 0 6 42
OMIM 0 48 0 14 2 7 19 40
Integrated Genetics/Laboratory Corporation of America 0 53 0 15 21 2 3 40
Biesecker Lab/Human Development Section,National Institutes of Health 0 35 0 12 25 1 2 39
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 49 0 10 12 0 10 32
Illumina Clinical Services Laboratory,Illumina 0 44 0 1 24 2 3 30
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 36 0 11 11 0 3 25
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 27 0 7 8 1 9 25
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 29 0 6 10 1 1 18
CSER_CC_NCGL; University of Washington Medical Center 0 22 0 3 10 0 4 17
Center for Medical Genetics Ghent,University of Ghent 0 14 0 10 2 0 2 14
PreventionGenetics 0 4 0 3 9 0 0 11
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 14 0 4 4 0 3 11
Center for Human Genetics, Inc 0 14 0 1 8 0 1 10
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 7 0 7 0 0 2 9
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 7 0 4 4 0 1 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 13 0 2 3 0 2 7
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 8 0 6 0 0 1 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 13 0 5 0 0 2 7
Genetic Services Laboratory, University of Chicago 0 8 0 1 5 0 0 6
GeneReviews 0 5 3 3 0 0 0 6
Fulgent Genetics 0 30 0 4 0 0 2 6
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 12 0 3 3 0 0 6
Center for Human Genetics,University of Leuven 0 18 0 3 0 0 3 6
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 6 0 1 4 0 1 6
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 4 0 1 2 0 2 5
Robarts Research Institute,Western University 0 1 0 4 1 0 0 5
Athena Diagnostics Inc 0 8 0 1 2 0 1 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 7 0 1 2 0 1 4
Baylor Miraca Genetics Laboratories, 0 8 0 1 0 0 2 3
LDLR-LOVD, British Heart Foundation 0 3 0 3 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 4 0 1 2 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 0 0 0 2 1 3
Database of Curated Mutations (DoCM) 0 2 0 3 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 9 0 0 0 1 1 2
Collagen Diagnostic Laboratory,University of Washington 0 0 0 2 0 0 0 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 6 0 2 0 0 0 2
Counsyl 0 9 0 0 0 0 2 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 2 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 0 0 0 2 2
Blueprint Genetics, 1183 15 0 0 2 0 0 2
Nyegaard lab; Aarhus University 0 0 0 2 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 2 2
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 0 0 1 0 0 1 2
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 0 0 1 1 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 5 0 0 2 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 10 0 2 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 1 0 1 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 6 0 1 0 0 1 2
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 3 0 1 0 0 1 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 3 0 2 0 0 0 2
ClinGen RASopathy Variant Curation Expert Panel, 0 11 0 1 1 0 0 2
Gharavi Laboratory,Columbia University 0 5 0 1 0 0 1 2
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 39 0 0 1 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 7 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 2 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 1 0 0 0 1
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 0 1 0 0 1
Department of Neurology, University Hospital of Strasbourg 0 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 4 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 2 0 0 0 0 1 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 1 0 1 0 0 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 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
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 3 0 1 0 0 0 1
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 3 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
Fundacion Hipercolesterolemia Familiar 0 3 0 1 0 0 0 1
Iberoamerican FH Network 0 3 0 1 0 0 0 1
Medical & Molecular Genetics Group,University of Lincoln 0 1 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 3 0 1 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine,University of Washington 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 396
Download table as spreadsheet
HGVS dbSNP
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.2123G>T (p.Gly708Val) rs111929073
NM_000090.3(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000093.4(COL5A1):c.4230+5C>T rs142248898
NM_000093.4(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.4(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000138.4(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.1496G>A (p.Cys499Tyr) rs587782944
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.4(FBN1):c.2861G>A (p.Arg954His) rs112911555
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.4(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777
NM_000138.4(FBN1):c.338C>G (p.Ser113Cys) rs869025403
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.4210+1G>A rs730880106
NM_000138.4(FBN1):c.4337-1G>T rs1555397424
NM_000138.4(FBN1):c.4453T>C (p.Cys1485Arg) rs730880101
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.7039_7040delAT (p.Met2347Valfs) rs794728319
NM_000138.4(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.4(FBN1):c.7151_7152delTG (p.Val2384Glyfs) rs869025423
NM_000138.4(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.8521G>T (p.Glu2841Ter) rs587782948
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.5(KCNE1):c.29C>T (p.Thr10Met) rs144917638
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177
NM_000238.3(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.3(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_000238.3(KCNH2):c.1847A>G (p.Tyr616Cys) rs199472946
NM_000238.3(KCNH2):c.2320G>T (p.Asp774Tyr) rs199472995
NM_000238.3(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441
NM_000238.3(KCNH2):c.2692+8G>A rs200032281
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.3133C>T (p.Leu1045Phe) rs199473025
NM_000238.3(KCNH2):c.473-7C>T rs146570628
NM_000238.3(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_000238.3(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_000238.3(KCNH2):c.982C>T (p.Arg328Cys) rs199473505
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) rs397515884
NM_000256.3(MYBPC3):c.1153_1168delGTGGAACTGGCTGACC (p.Val385Metfs) rs869025465
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1641_1642delGT (p.Tyr548Profs) rs398123279
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019
NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val) rs730880553
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys) rs727503194
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191
NM_000256.3(MYBPC3):c.206G>A (p.Arg69Gln) rs397515945
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565
NM_000256.3(MYBPC3):c.2441_2443delAGA (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2490dupT (p.His831Serfs) rs397515966
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2864_2865delCT (p.Pro955Argfs) rs397515990
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln) rs727504235
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter) rs397516010
NM_000256.3(MYBPC3):c.3297dupG (p.Tyr1100Valfs) rs397516014
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469
NM_000256.3(MYBPC3):c.3407_3409delACT (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120
NM_000256.3(MYBPC3):c.357delA (p.Ala120Profs) rs869025463
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala) rs727505267
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.833delG (p.Gly278Glufs) rs727503212
NM_000256.3(MYBPC3):c.913_914delTT (p.Phe305Profs) rs397516080
NM_000256.3(MYBPC3):c.927-9G>A rs397516083
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000257.2(MYH7):c.1888+1G>A rs113186231
NM_000257.2(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647
NM_000257.2(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000257.3(MYH7):c.1106G>C (p.Arg369Pro) rs397516089
NM_000257.3(MYH7):c.1193G>A (p.Gly398Glu) rs730880158
NM_000257.3(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.3(MYH7):c.1816G>A (p.Val606Met) rs121913627
NM_000257.3(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.3(MYH7):c.2348G>A (p.Arg783His) rs397516142
NM_000257.3(MYH7):c.2539_2541delAAG (p.Lys847del) rs397516155
NM_000257.3(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_000257.3(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.3(MYH7):c.298G>A (p.Ala100Thr) rs730880154
NM_000257.3(MYH7):c.3622G>A (p.Asp1208Asn) rs730880781
NM_000257.3(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202
NM_000257.3(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244
NM_000257.3(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340
NM_000257.3(MYH7):c.5562G>A (p.Thr1854=) rs368706722
NM_000257.3(MYH7):c.789A>G (p.Ile263Met) rs730880855
NM_000257.3(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962
NM_000257.4(MYH7):c.3337-3dup rs45504498
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201
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.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.2(MYL3):c.451G>A (p.Ala151Thr) rs869025486
NM_000335.4(SCN5A):c.1714_1715delGCinsTT (p.Ala572Phe) rs730880211
NM_000335.4(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.393-5C>A rs368678204
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.4(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000363.4(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.4(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000363.4(TNNI3):c.508C>T (p.Arg170Trp) rs727503504
NM_000363.4(TNNI3):c.526G>A (p.Val176Met) rs727503501
NM_000363.4(TNNI3):c.557G>A (p.Arg186Gln) rs397516357
NM_000363.4(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000364.3(TNNT2):c.136G>C (p.Ala46Pro) rs397516447
NM_000364.3(TNNT2):c.753G>T (p.Glu251Asp) rs45466197
NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000366.5(TPM1):c.375-3C>T rs202228866
NM_000384.2(APOB):c.10294C>G (p.Gln3432Glu) rs1042023
NM_000384.2(APOB):c.6639_6641delTGA (p.Asp2213del) rs541497967
NM_000393.3(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.3(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200
NM_000393.4(COL5A2):c.3471+8A>T rs367643805
NM_000410.3(HFE):c.187C>G (p.His63Asp) rs1799945
NM_000410.3(HFE):c.193A>T (p.Ser65Cys) rs1800730
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000432.3(MYL2):c.141C>A (p.Asn47Lys) rs199474808
NM_000432.3(MYL2):c.173G>A (p.Arg58Gln) rs104894369
NM_000432.3(MYL2):c.239C>A (p.Thr80Asn) rs587782965
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.4(LDLR):c.1478_1479delCT (p.Ser493Cysfs) rs869025453
NM_000527.4(LDLR):c.1486_1487delGG (p.Gly496Hisfs) rs869025454
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000719.6(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706
NM_000719.6(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000722.3(CACNA2D1):c.2264G>C (p.Ser755Thr) rs151327713
NM_000724.3(CACNB2):c.169-8C>T rs374465425
NM_001001430.2(TNNT2):c.613C>T (p.Arg205Trp) rs45586240
NM_001001430.2(TNNT2):c.690-4G>T rs201753429
NM_001005242.2(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001018004.1(TPM1):c.775A>G (p.Lys259Glu) rs144045691
NM_001018005.1(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.1(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001035.2(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.2(RYR2):c.11570A>G (p.Tyr3857Cys) rs587782975
NM_001035.2(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.2(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.2(RYR2):c.14635C>A (p.Gln4879Lys) rs730880200
NM_001035.2(RYR2):c.1847C>T (p.Ser616Leu) rs730880187
NM_001035.2(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.2(RYR2):c.2389G>A (p.Gly797Arg) rs200121281
NM_001035.2(RYR2):c.2630A>C (p.His877Pro) rs561321743
NM_001035.2(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624
NM_001035.2(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.2(RYR2):c.365G>A (p.Arg122His) rs727503396
NM_001035.2(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897
NM_001035.2(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663
NM_001037.4(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001037.4(SCN1B):c.448+112G>A rs72558026
NM_001040113.1(MYH11):c.1892G>A (p.Arg631His) rs201991156
NM_001040113.1(MYH11):c.4625G>A (p.Arg1542Gln) rs137934837
NM_001040113.1(MYH11):c.5357C>T (p.Thr1786Met) rs201960644
NM_001040113.1(MYH11):c.760C>T (p.Arg254Cys) rs150759461
NM_001040114.1(MYH11):c.3787_3789delAAG (p.Lys1263del) rs730880147
NM_001040114.1(MYH11):c.4694C>T (p.Thr1565Met) rs111854563
NM_001105206.2(LAMA4):c.1962G>A (p.Ala654=) rs140246538
NM_001129835.1(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_001129838.1(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_001129841.1(CACNA1C):c.2548_2550delGAG (p.Glu850del) rs575583988
NM_001134363.2(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.2(RBM20):c.1907G>A (p.Arg636His) rs267607004
NM_001134363.2(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392
NM_001134363.2(RBM20):c.3545G>A (p.Arg1182His) rs563762318
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001135599.3(TGFB2):c.475C>T (p.Arg159Ter) rs869025531
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001135602.2(GLB1):c.913C>T (p.Leu305Phe) rs34421970
NM_001141945.1(ACTA2):c.419C>T (p.Ala140Val) rs397516683
NM_001141945.2(ACTA2):c.115C>T (p.Arg39Cys) rs112901682
NM_001148.4(ANK2):c.10708G>A (p.Glu3570Lys) rs180843436
NM_001148.4(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705
NM_001148.4(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198
NM_001148.4(ANK2):c.6206G>A (p.Arg2069His) rs149645600
NM_001167623.1(CACNA1C):c.1204G>A (p.Gly402Ser) rs587782933
NM_001167819.1(FHL1):c.764G>C (p.Cys255Ser) rs869025431
NM_001171610.1(LDB3):c.466G>A (p.Ala156Thr) rs200596619
NM_001204.6(BMPR2):c.1276G>C (p.Gly426Arg) rs869025367
NM_001256267.1(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801
NM_001256267.1(MYPN):c.3886T>A (p.Ser1296Thr) rs199585352
NM_001256850.1(TTN):c.39358C>T (p.Pro13120Ser) rs192766485
NM_001256850.1(TTN):c.90492C>A (p.Phe30164Leu) rs587780983
NM_001267550.1(TTN):c.33513_33515dup (p.Glu11172_Tyr11173insGlu) rs368327166
NM_001267550.2(TTN):c.105514_105516delTCT (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.12870dupA (p.Val4291Serfs) rs869025556
NM_001267550.2(TTN):c.41609-2A>C rs730880244
NM_001267550.2(TTN):c.50858-3C>T rs587782987
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001282625.1(LMNA):c.448A>G (p.Thr150Ala) rs58917027
NM_001390.4(DTNA):c.1249C>T (p.Arg417Trp) rs199867593
NM_001885.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_001927.3(DES):c.1048C>T (p.Arg350Trp) rs62636492
NM_001927.3(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.3(DES):c.635G>A (p.Arg212Gln) rs144261171
NM_001943.3(DSG2):c.1072G>A (p.Ala358Thr) rs758537946
NM_001943.3(DSG2):c.1643G>A (p.Arg548His) rs551034751
NM_001943.3(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001943.4(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.4(DSG2):c.1063G>A (p.Ala355Thr) rs201046640
NM_001943.4(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.4(DSG2):c.2192A>C (p.Gln731Pro) rs202063433
NM_001943.4(DSG2):c.3059_3062delAGAG (p.Glu1020Alafs) rs397516706
NM_001999.3(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_002230.2(JUP):c.1035G>C (p.Lys345Asn) rs150194093
NM_002230.2(JUP):c.1366G>A (p.Val456Ile) rs78437817
NM_002230.2(JUP):c.1807G>T (p.Val603Leu) rs200327969
NM_002230.2(JUP):c.560C>T (p.Ala187Val) rs782370709
NM_002230.2(JUP):c.902A>G (p.Glu301Gly) rs782058451
NM_002290.4(LAMA4):c.1978G>T (p.Asp660Tyr) rs397516720
NM_002294.2(LAMP2):c.795C>A (p.Cys265Ter) rs730880483
NM_002294.2(LAMP2):c.929-5T>C rs375341409
NM_002471.3(MYH6):c.1763A>C (p.Asp588Ala) rs142992009
NM_002471.3(MYH6):c.2591C>T (p.Thr864Met) rs200153625
NM_002471.3(MYH6):c.3893C>T (p.Ala1298Val) rs368588052
NM_002471.3(MYH6):c.4136C>T (p.Thr1379Met) rs145611185
NM_002471.3(MYH6):c.643-5C>T rs199859986
NM_002471.3(MYH6):c.67C>T (p.Arg23Cys) rs587782959
NM_002667.4(PLN):c.116T>G (p.Leu39Ter) rs111033560
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002880.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002880.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_003036.3(SKI):c.1081G>A (p.Gly361Ser) rs759663808
NM_003036.3(SKI):c.1568C>T (p.Ser523Leu) rs730880212
NM_003098.2(SNTA1):c.589C>T (p.Arg197Trp) rs530603992
NM_003098.2(SNTA1):c.784A>C (p.Thr262Pro) rs200316080
NM_003242.5(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.5(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003476.4(CSRP3):c.299G>A (p.Arg100His) rs138218523
NM_003673.3(TCAP):c.421C>G (p.Pro141Ala) rs45509691
NM_003803.3(MYOM1):c.1978C>G (p.Pro660Ala) rs201104206
NM_003803.3(MYOM1):c.3190C>T (p.His1064Tyr) rs755409090
NM_004006.2(DMD):c.1337A>G (p.His446Arg) rs72468699
NM_004006.2(DMD):c.5701G>A (p.Ala1901Thr) rs201302282
NM_004333.5(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004415.2(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.2(DSP):c.2684A>G (p.Tyr895Cys) rs367752002
NM_004415.2(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.2(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.2(DSP):c.4886G>T (p.Ser1629Ile) rs200243976
NM_004415.2(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.2(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.2(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.2(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004415.2(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_004415.3(DSP):c.2131_2132delAG (p.Ser711Cysfs) rs587782927
NM_004415.3(DSP):c.2569G>A (p.Gly857Ser) rs548695484
NM_004415.3(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.3(DSP):c.598-4G>A rs747448946
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297
NM_004572.3(PKP2):c.1378+1G>C rs397516994
NM_004572.3(PKP2):c.1576A>G (p.Thr526Ala) rs397516999
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.1613G>A (p.Trp538Ter) rs193922672
NM_004572.3(PKP2):c.1974A>G (p.Gln658=) rs138901574
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004612.2(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636
NM_004612.3(TGFBR1):c.935G>A (p.Gly312Asp) rs869025535
NM_004646.3(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695
NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482
NM_004949.4(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_004949.4(DSC2):c.1901G>A (p.Arg634His) rs200475862
NM_004949.4(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_004949.4(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_004980.4(KCND3):c.641A>G (p.Lys214Arg) rs142744204
NM_005343.2(HRAS):c.64C>A (p.Gln22Lys) rs121917757
NM_005477.2(HCN4):c.458A>G (p.Glu153Gly) rs560874115
NM_005572.3(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_005633.3(SOS1):c.3703C>T (p.Pro1235Ser) rs397517168
NM_005691.3(ABCC9):c.1909G>A (p.Val637Ile) rs113542001
NM_005726.5(TSFM):c.856C>T (p.Gln286Ter) rs201754030
NM_005751.4(AKAP9):c.1099G>A (p.Val367Met) rs138161478
NM_005751.4(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373
NM_005751.4(AKAP9):c.4825_4826delAGinsCA (p.Arg1609Gln) rs786205707
NM_005751.4(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935
NM_005751.4(AKAP9):c.8656A>G (p.Ile2886Val) rs143283097
NM_005902.3(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.3(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_006393.2(NEBL):c.267C>G (p.Tyr89Ter) rs147622517
NM_006440.4(TXNRD2):c.174C>T (p.Ala58=) rs767236339
NM_006888.4(CALM1):c.161A>T (p.Asn54Ile) rs267607276
NM_006888.5(CALM1):c.293A>G (p.Asn98Ser) rs267607277
NM_007078.2(LDB3):c.1049C>T (p.Thr350Ile) rs200796750
NM_007078.2(LDB3):c.352G>A (p.Val118Met) rs35507268
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_014000.2(VCL):c.1555A>C (p.Ile519Leu) rs141033098
NM_014000.2(VCL):c.1907A>G (p.His636Arg) rs71579374
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_015141.3(GPD1L):c.370A>G (p.Ile124Val) rs72552293
NM_015141.3(GPD1L):c.520G>A (p.Glu174Lys) rs112122950
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017636.3(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325
NM_017636.3(TRPM4):c.1682A>C (p.Asp561Ala) rs56355369
NM_017636.3(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856
NM_017636.3(TRPM4):c.308A>G (p.Tyr103Cys) rs144781529
NM_020433.4(JPH2):c.482C>A (p.Thr161Lys) rs587782951
NM_022436.2(ABCG5):c.978delA (p.Glu326Aspfs) rs869025350
NM_022844.2(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_024422.3(DSC2):c.2368_2370delGGA (p.Gly790del) rs377272752
NM_024422.3(DSC2):c.2687_2688insGA (p.Ala897Lysfs) rs200056085
NM_024422.4(DSC2):c.1264-4G>A rs377439942
NM_024422.4(DSC2):c.1559T>C (p.Ile520Thr) rs561310777
NM_024422.4(DSC2):c.2497C>T (p.Arg833Cys) rs142410803
NM_032578.3(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_032578.3(MYPN):c.59A>G (p.Tyr20Cys) rs140148105
NM_032588.3(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_033337.2(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_133378.4(TTN):c.13451-7C>T rs371785683
NM_133378.4(TTN):c.17672-4A>G rs72648965
NM_133378.4(TTN):c.23117A>G (p.Tyr7706Cys) rs199557654
NM_133378.4(TTN):c.23131A>G (p.Ile7711Val) rs72648994
NM_133378.4(TTN):c.26542C>T (p.His8848Tyr) rs72650011
NM_133378.4(TTN):c.28999G>A (p.Glu9667Lys) rs199620003
NM_133378.4(TTN):c.30515_30517delAAG (p.Glu10172del) rs397517549
NM_133378.4(TTN):c.32164C>A (p.Pro10722Thr) rs72650064
NM_133378.4(TTN):c.32704+8delA rs727504922
NM_133378.4(TTN):c.37704G>T (p.Lys12568Asn) rs72677225
NM_133378.4(TTN):c.49259-3C>T rs375979145
NM_133378.4(TTN):c.55885A>G (p.Ile18629Val) rs72646855
NM_133378.4(TTN):c.96856G>C (p.Val32286Leu) rs55866005
NM_133378.4(TTN):c.97070A>C (p.Glu32357Ala) rs201218828
NM_133378.4(TTN):c.9955G>A (p.Val3319Ile) rs375533809
NM_133379.4(TTN):c.2227G>A (p.Ala743Thr) rs370728359
NM_133432.3(TTN):c.19402G>A (p.Ala6468Thr) rs730880239
NM_133432.3(TTN):c.30950G>A (p.Arg10317Gln) rs202076328
NM_144573.3(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197
NM_144573.3(NEXN):c.835C>T (p.Arg279Cys) rs146245480
NM_144573.3(NEXN):c.865-5G>A rs727505353
NM_145046.4(CALR3):c.245A>G (p.Lys82Arg) rs142951029
NM_170707.3(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.3(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_170707.3(LMNA):c.646C>T (p.Arg216Cys) rs794728591
NM_170707.3(LMNA):c.859delG (p.Ala287Leufs) rs59564495
NM_170707.3(LMNA):c.937-8C>A rs751707982
NM_170707.3(LMNA):c.976T>A (p.Ser326Thr) rs56851164
NM_172201.1(KCNE2):c.79C>T (p.Arg27Cys) rs74315449
NM_176795.4(HRAS):c.277A>G (p.Ile93Val) rs587782949
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_182914.2(SYNE2):c.7898A>G (p.Asn2633Ser) rs190582637
NM_198056.2(SCN5A):c.103G>A (p.Gly35Ser) rs199473552
NM_198056.2(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_198056.2(SCN5A):c.2770G>A (p.Val924Ile) rs199473177
NM_198056.2(SCN5A):c.3352C>T (p.Gln1118Ter) rs869025520
NM_198056.2(SCN5A):c.4850_4852delTCT (p.Phe1617del) rs749697698
NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His) rs28937316
NM_198056.2(SCN5A):c.52C>T (p.Arg18Trp) rs199473044
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) rs137854601
NM_198056.2(SCN5A):c.559A>G (p.Thr187Ala) rs869025517
NM_198056.2(SCN5A):c.568C>G (p.Arg190Gly) rs199473068
NM_198056.2(SCN5A):c.5851G>A (p.Val1951Met) rs41315493
NM_198056.2(SCN5A):c.6016C>G (p.Pro2006Ala) rs45489199
NM_201571.3(CACNB2):c.1558G>A (p.Gly520Ser) rs730880059
NM_201590.2(CACNB2):c.1044+4_1044+7dupAGTA rs1456201116

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.