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 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
4356 459 3 182 68 9 106 342

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 drug response protective risk factor other
pathogenic 3 99 19 2 0 1 1 2 0
likely pathogenic 62 0 53 4 1 0 0 0 0
uncertain significance 8 21 0 34 7 2 0 0 2
likely benign 0 1 26 0 18 0 0 0 0
benign 0 0 4 4 0 0 0 0 0
risk factor 1 2 1 1 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 87
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
GeneDx 0 216 0 34 16 0 30 80
Invitae 0 85 0 16 13 1 17 47
Ambry Genetics 0 79 0 15 10 0 6 31
NIHR Bioresource Rare Diseases, University of Cambridge 0 20 0 29 0 0 1 30
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 80 0 9 6 0 12 27
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 54 0 10 5 0 12 27
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 26 0 14 4 0 4 22
Integrated Genetics/Laboratory Corporation of America 0 46 0 12 5 0 4 21
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 33 0 8 4 0 8 20
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 10 0 8 0 0 7 15
OMIM 0 35 0 8 0 5 1 14
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 7 0 6 2 1 2 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 55 0 2 7 0 2 11
Illumina Clinical Services Laboratory,Illumina 0 14 0 1 6 0 3 10
Center for Medical Genetics Ghent,University of Ghent 0 7 0 9 0 0 1 10
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 24 0 7 0 0 2 9
Athena Diagnostics Inc 0 16 0 6 0 0 2 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 9 0 3 1 0 3 7
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 4 0 3 3 0 0 6
Genetic Services Laboratory, University of Chicago 0 8 0 1 3 0 1 5
GeneReviews 0 4 3 2 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 21 0 5 0 0 0 5
CSER _CC_NCGL, University of Washington 0 8 0 2 1 0 2 5
Color Health, Inc 0 14 0 1 4 0 0 5
Robarts Research Institute,Western University 0 1 0 4 1 0 0 5
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 6 0 2 0 0 2 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 16 0 4 0 0 0 4
PharmGKB 0 0 0 0 0 3 0 3
LDLR-LOVD, British Heart Foundation 0 3 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 1 1 0 1 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 10 0 2 1 0 0 3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 6 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 3 0 1 1 0 1 3
Gharavi Laboratory,Columbia University 0 14 0 2 1 0 0 3
Baylor Genetics 0 11 0 1 0 0 1 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 5 0 2 0 0 0 2
Collagen Diagnostic Laboratory,University of Washington 0 0 0 2 0 0 0 2
PreventionGenetics, PreventionGenetics 0 2 0 2 0 0 0 2
Mendelics 0 3 0 1 0 1 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 6 0 2 0 0 0 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
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 1 0 1 0 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 3 0 2 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 2 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 1 0 0 1 2
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 2 0 2 0 0 0 2
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research 0 4 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 4 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 7 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 0 1 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 1 0 0 0 1
Natera, Inc. 0 4 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 1 0 0 0 1
RettBASE 0 2 0 1 0 0 0 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 0 0 0 0 0 1 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 0 0 0 0 1 1
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 0 1 0 0 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 1 0 0 0 0 1 1
Medical Research Institute,Tokyo Medical and Dental University 0 0 0 0 0 1 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 0 0 0 0 1 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 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 de Lille - CHRU de Lille 0 3 0 1 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 2 0 0 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 3 0 0 0 0 1 1
Department of Genetics,Fundacion Jimenez Diaz University Hospital 0 0 0 0 0 0 1 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
Immunogenetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 3 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 0 0 1 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 2 0 1 0 0 0 1
Genetics and Genomics Program,Sidra Medicine 0 0 0 0 1 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 0 0 0 0 1 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 0 0 0 0 1 1
Department of Vascular Biology,Beijing Anzhen Hospital 0 1 0 1 0 0 0 1
Loeys Lab,Universiteit Antwerpen 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 342
Download table as spreadsheet
HGVS dbSNP
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr) rs11569541
NM_000065.4(C6):c.2381+2T>C rs76202909
NM_000090.3(COL3A1):c.1232G>A (p.Gly411Glu) rs886038816
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.2445+19A>G rs776819930
NM_000090.3(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_000138.4(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.4(FBN1):c.1379G>A (p.Cys460Tyr) rs1597581001
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.2127A>C (p.Ala709=) rs886038990
NM_000138.4(FBN1):c.3020T>G (p.Leu1007Arg) rs794728200
NM_000138.4(FBN1):c.4210+1G>A rs730880106
NM_000138.4(FBN1):c.4337-1G>T rs1555397424
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.4935G>A (p.Val1645=) rs886038897
NM_000138.4(FBN1):c.5015G>A (p.Cys1672Tyr) rs140627
NM_000138.4(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.4(FBN1):c.6037+1G>A rs1064796636
NM_000138.4(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.4(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.5(FBN1):c.3712G>A rs794728208
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs) rs869025423
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.640-801G>A rs199473684
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg) rs1567961680
NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter)
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu) rs878853343
NM_000215.3(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) rs144917638
NM_000238.3(KCNH2):c.2692+8G>A rs200032281
NM_000238.3(KCNH2):c.3133C>T (p.Leu1045Phe) rs199473025
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_000256.3(MYBPC3):c.1223+1G>A rs730880639
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893
NM_000256.3(MYBPC3):c.1622dup (p.Glu542fs) rs1555122143
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191
NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met) rs564378953
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) 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.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val) rs397515993
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs) rs397516014
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter) rs730880600
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val) rs727504259
NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter) rs730880604
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.821+1G>A rs397516073
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625
NM_000257.4(MYH7):c.1632C>T (p.Thr544=) rs587781089
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) 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.2163G>T (p.Arg721Ser) rs730880734
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173
NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu) rs727503254
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161
NM_000257.4(MYH7):c.29G>C (p.Gly10Ala) rs730880826
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
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.4487A>C (p.Glu1496Ala) rs397516218
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.707T>C (p.Val236Ala) rs397516262
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000267.3(NF1):c.61-7486G>T rs1597617010
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000328.3(RPGR):c.1905+521_1905+522del rs730882261
NM_000328.3(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) rs1571158279
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser) rs149071415
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.4253+5G>A rs61750138
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.4773+3A>G rs759672616
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val) rs367839100
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6386+1G>A rs745654673
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) rs730881069
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724
NM_000363.5(TNNI3):c.526G>A (p.Val176Met) rs727503501
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970
NM_000410.3(HFE):c.193A>T (p.Ser65Cys) rs1800730
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000527.4(LDLR):c.1186+1G>T rs730880131
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs) rs869025454
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000554.6(CRX):c.118C>T (p.Arg40Trp)
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673
NM_000554.6(CRX):c.594_606del (p.Ser199fs)
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) rs104894505
NM_001018005.2(TPM1):c.375-3C>T rs202228866
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs) rs878853382
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001134363.3(RBM20):c.3574-6C>G rs762069628
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001135599.3(TGFB2):c.905dup (p.Asn302fs) rs863223796
NM_001142279.2(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del) rs730880049
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198
NM_001204.7(BMPR2):c.1276G>C (p.Gly426Arg) rs869025367
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.7057+2dup rs765019023
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter) rs794729286
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser) rs397516451
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val) rs369181536
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001278074.1(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_001282225.2(ADA2):c.144dup (p.Arg49fs) rs756881285
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile) rs146597836
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_001351834.2(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_001354689.3(RAF1):c.1232G>T (p.Arg411Met) rs587782972
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001354689.3(RAF1):c.785A>T (p.Asn262Ile) rs730881010
NM_001354689.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687
NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001770.5(CD19):c.1303+1G>C rs372929312
NM_001927.4(DES):c.735G>A (p.Glu245=) rs267607486
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_002474.3(MYH11):c.1871G>A (p.Arg624His) rs201991156
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) rs201960644
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu) rs730880212
NM_003098.2(SNTA1):c.784A>C (p.Thr262Pro) rs200316080
NM_003239.4(TGFB3):c.646+13T>C rs780891440
NM_003239.4(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) rs121909074
NM_003361.3(UMOD):c.317G>T (p.Cys106Phe) rs398123697
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys) rs397516881
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_004517.4(ILK):c.157T>A (p.Leu53Met) rs200336608
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe) rs863223812
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp) rs869025541
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) rs748531024
NM_004980.4(KCND3):c.641A>G (p.Lys214Arg) rs142744204
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) rs121913535
NM_005214.5(CTLA4):c.118G>A (p.Val40Met) rs1553657378
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) rs369106578
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757
NM_005633.3(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.3(SOS1):c.1654A>T (p.Arg552Trp) rs137852814
NM_005691.3(ABCC9):c.1909G>A (p.Val637Ile) rs113542001
NM_005751.4(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397
NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg) rs863223737
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006231.3(POLE):c.3373C>T (p.Arg1125Ter) rs139603739
NM_006269.2(RP1):c.121T>C (p.Tyr41His) rs746359399
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424
NM_006767.4(LZTR1):c.2463dup (p.Asp822fs) rs781251567
NM_006904.6(PRKDC):c.3709G>A (p.Ala1237Thr) rs191531119
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) rs1556318633
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268
NM_012452.2(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012452.2(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621
NM_012452.2(TNFRSF13B):c.568G>C (p.Gly190Arg) rs150101848
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098
NM_014249.4(NR2E3):c.119-2A>C rs2723341
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) rs377257254
NM_014646.2(LPIN2):c.1168+6C>T rs200130790
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048
NM_017617.5(NOTCH1):c.3172-5C>T rs762077987
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999
NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys) rs144781529
NM_018400.3(SCN3B):c.60T>G (p.Ser20Arg) rs771342044
NM_020366.3(RPGRIP1):c.2465_2468dup (p.Ala824fs)
NM_020366.3(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148fs) rs527847958
NM_022124.6(CDH23):c.2398-1G>T rs751788879
NM_022436.3(ABCG5):c.978del (p.Glu326fs) rs869025350
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) rs387907206
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val) rs777976050
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152778.3(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_153240.5(NPHP3):c.406del (p.Thr136fs) rs1379989124
NM_153240.5(NPHP3):c.974T>C (p.Leu325Pro) rs1560014265
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg) rs766285779
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751
NM_172056.2(KCNH2):c.77-5C>T rs72549419
NM_172056.2(KCNH2):c.982C>T (p.Arg328Cys) rs199473505
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.3352C>T (p.Gln1118Ter) rs869025520
NM_198056.2(SCN5A):c.4978A>G (p.Ile1660Val) rs199473625
NM_198056.2(SCN5A):c.568C>G (p.Arg190Gly) rs199473068
NM_198056.2(SCN5A):c.739G>C (p.Val247Leu) rs199473078
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040
NM_201253.3(CRB1):c.2230C>A (p.Arg744=) rs150412614
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del)
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) rs749746650
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)
NM_201253.3(CRB1):c.4006-10A>G
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) rs1571848744
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
Single allele

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