ClinVar Miner

Variants from CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario with conflicting interpretations

Location: Canada — Primary collection method: clinical testing
Minimum review status of the submission from CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario: Collection method of the submission from CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario:
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
2631 636 10 257 207 3 21 442

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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 10 1 0 0 3
likely pathogenic 6 1 7 1 0 0
uncertain significance 3 7 1 120 14 0
likely benign 1 0 57 4 120 0
benign 0 1 23 123 4 0

Submitter to submitter summary #

Total submitters: 37
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
Color Health, Inc 0 514 0 130 107 0 7 244
GeneDx 0 122 0 35 20 0 2 57
Integrated Genetics/Laboratory Corporation of America 0 55 0 26 15 0 2 43
Illumina Clinical Services Laboratory,Illumina 0 14 0 23 15 0 1 39
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 68 0 33 5 0 0 38
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 9 3 16 0 0 28
Department of Pathology and Laboratory Medicine,Sinai Health System 0 28 0 19 7 0 1 27
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 18 0 7 18 0 0 25
Quest Diagnostics Nichols Institute San Juan Capistrano 0 84 0 15 8 0 2 25
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 27 0 14 7 0 0 21
Invitae 0 25 0 10 8 0 2 20
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 36 0 13 5 0 0 18
PreventionGenetics, PreventionGenetics 0 52 0 13 4 0 0 17
Mayo Clinic Laboratories, Mayo Clinic 0 32 0 15 2 0 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 0 30 0 10 4 0 1 15
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 26 0 2 8 0 1 11
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 21 0 11 0 0 0 11
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 14 0 8 2 0 1 11
Genetic Services Laboratory, University of Chicago 0 22 0 5 2 0 0 7
Department of Pathology and Molecular Medicine,Queen's University 0 7 0 5 1 0 1 7
Blueprint Genetics 0 4 0 3 3 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 5 0 4 2 0 0 6
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 2 0 4 1 0 0 5
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 6 0 3 2 0 0 5
CSER _CC_NCGL, University of Washington 0 0 0 0 4 0 0 4
OMIM 0 0 0 0 0 3 0 3
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 3703 3 0 2 1 0 0 3
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 0 0 2 0 0 1 3
GeneKor MSA 0 13 0 2 0 0 1 3
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 0 0 2 0 0 1 3
Ambry Genetics 0 8 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 1 1 0 0 2
King Laboratory,University of Washington 0 0 0 0 1 0 0 1
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 0 0 1 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 18 0 0 0 0 1 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
CZECANCA consortium 0 10 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 442
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.2254_2257del (p.Asp752fs) rs80359326
NM_000059.3(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.3(BRCA2):c.3420T>C (p.Ser1140=) rs118093942
NM_000059.3(BRCA2):c.3672C>T (p.Gly1224=) rs587780650
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4094G>A (p.Cys1365Tyr) rs80358657
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.3(BRCA2):c.8386C>T (p.Pro2796Ser) rs146120136
NM_000059.3(BRCA2):c.8417C>T (p.Ser2806Leu) rs587782785
NM_000059.3(BRCA2):c.8918G>A (p.Arg2973His) rs80359143
NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) rs79483201
NM_000059.3(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His) rs80358398
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln) rs371454630
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr) rs374769365
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr) rs144784912
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.4(BRCA2):c.6738A>G (p.Pro2246=) rs760272304
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899
NM_000059.4(BRCA2):c.708T>C (p.His236=) rs185506536
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.4(BRCA2):c.7435+6G>A rs81002852
NM_000059.4(BRCA2):c.7436-4A>G rs81002904
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.4(BRCA2):c.9155G>A (p.Arg3052Gln) rs80359171
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000090.3(COL3A1):c.2287C>T (p.Pro763Ser) rs771671892
NM_000090.3(COL3A1):c.2700C>T (p.Gly900=) rs112164939
NM_000090.3(COL3A1):c.3117T>C (p.Ser1039=) rs1559061716
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000138.4(FBN1):c.1821T>C (p.Asp607=) rs149133920
NM_000138.4(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.6054C>T (p.Val2018=) rs542953863
NM_000138.4(FBN1):c.6302C>T (p.Thr2101Met) rs200816828
NM_000138.4(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu) rs363831
NM_000138.4(FBN1):c.7560G>A (p.Thr2520=) rs760425899
NM_000138.4(FBN1):c.783T>C (p.Asn261=) rs113721547
NM_000138.4(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000138.5(FBN1):c.1029G>A (p.Gly343=) rs75655780
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile) rs139058991
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606
NM_000138.5(FBN1):c.2645C>T rs794728195
NM_000138.5(FBN1):c.2855-9C>T rs140590
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.5(FBN1):c.3463+3A>G rs80344206
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=) rs138574576
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000251.3(MSH2):c.942+24_942+29del rs11309117
NM_000256.3(MYBPC3):c.1038C>T (p.Arg346=) rs758016271
NM_000256.3(MYBPC3):c.1104G>A (p.Lys368=) rs1565628536
NM_000256.3(MYBPC3):c.1282T>C (p.Leu428=) rs758253767
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293
NM_000256.3(MYBPC3):c.2034T>C (p.Ala678=) rs757832991
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) rs727503181
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381
NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys) rs780449220
NM_000256.3(MYBPC3):c.3190+4C>T rs571457875
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) rs551888783
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=) rs368221517
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906
NM_000256.3(MYBPC3):c.534G>T (p.Val178=) rs759249105
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499
NM_000256.3(MYBPC3):c.906-7G>T rs397516079
NM_000256.3(MYBPC3):c.927-9G>A rs397516083
NM_000257.4(MYH7):c.1000-7C>T rs200129563
NM_000257.4(MYH7):c.2859C>T (p.Asp953=) rs370800700
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.3147G>A (p.Glu1049=) rs1216521596
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643
NM_000257.4(MYH7):c.3157C>T (p.Arg1053Trp) rs730880903
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.3993C>T (p.His1331=) rs200288088
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=) rs150552664
NM_000257.4(MYH7):c.4659C>T (p.His1553=) rs570079347
NM_000257.4(MYH7):c.4668C>A (p.Gly1556=) rs762762532
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311
NM_000257.4(MYH7):c.4992C>T (p.Asn1664=) rs763538103
NM_000257.4(MYH7):c.5013C>T (p.Ile1671=) rs779978846
NM_000257.4(MYH7):c.5178G>A (p.Gln1726=) rs747252861
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.930T>C (p.Tyr310=) rs111626355
NM_000257.4(MYH7):c.968T>C (p.Ile323Thr) rs397516275
NM_000258.2(MYL3):c.411G>T (p.Leu137=) rs2233265
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) rs145520567
NM_000258.3(MYL3):c.92G>A (p.Arg31His) rs199639940
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000363.5(TNNI3):c.373-10= rs7252610
NM_000363.5(TNNI3):c.384G>A (p.Leu128=) rs373130533
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000432.3(MYL2):c.275-7G>A rs373241541
NM_000432.3(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000432.3(MYL2):c.92_93+1del rs751392310
NM_000432.3(MYL2):c.94-3C>T rs112865045
NM_000432.4(MYL2):c.243G>T (p.Val81=) rs368851472
NM_000432.4(MYL2):c.279G>A (p.Ala93=) rs28645088
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.2(TPM1):c.774C>T (p.Asp258=) rs762282433
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811
NM_001035.3(RYR2):c.10324-4A>G rs72751287
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966
NM_001035.3(RYR2):c.10725+4A>T rs116444428
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882
NM_001035.3(RYR2):c.11811C>T (p.His3937=)
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=) rs768161152
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780
NM_001035.3(RYR2):c.2204-7C>G rs147479514
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=) rs566157997
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001035.3(RYR2):c.3720C>T (p.Ala1240=) rs750335699
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253
NM_001035.3(RYR2):c.4101A>G (p.Lys1367=) rs376792533
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001035.3(RYR2):c.463+6C>T rs397516533
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser) rs200070226
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=) rs369323506
NM_001035.3(RYR2):c.5241C>G (p.Gly1747=) rs533362755
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) rs200318013
NM_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=) rs759314800
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=) rs762521873
NM_001035.3(RYR2):c.8896-9T>C rs773401697
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp) rs751551400
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) rs183262122
NM_001105206.3(LAMA4):c.572G>A (p.Gly191Glu) rs782010849
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001234.5(CAV3):c.417C>T (p.Val139=) rs147250678
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520
NM_001267550.2(TTN):c.29042-2A>C rs6716782
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001276345.2(TNNT2):c.200-4C>G rs397516448
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832
NM_001276345.2(TNNT2):c.610-10C>T rs375547142
NM_001276345.2(TNNT2):c.63T>G (p.Val21=) rs397516477
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682
NM_001613.4(ACTA2):c.417G>A (p.Gln139=) rs111265233
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770
NM_001943.5(DSG2):c.1920C>T (p.Gly640=) rs775642244
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser) rs150864240
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_002471.3(MYH6):c.3979-8del rs193922652
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys) rs111404182
NM_002474.3(MYH11):c.2802G>A (p.Glu934=) rs138977949
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=) rs149980738
NM_002474.3(MYH11):c.3651+5_3651+11delinsG rs371843272
NM_002474.3(MYH11):c.3651+6_3651+11del rs371843272
NM_002474.3(MYH11):c.3652-6C>T rs193922630
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) rs150033906
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) rs76890940
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) rs774511118
NM_002474.3(MYH11):c.5787-4707C>G rs111588143
NM_002474.3(MYH11):c.5787-4708C>G rs200884440
NM_002474.3(MYH11):c.5787-4714dup rs747392139
NM_002474.3(MYH11):c.5787-4727C>T rs745371874
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708
NM_003242.6(TGFBR2):c.94+16245G>A rs61732532
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.4(DSP):c.3282G>A (p.Lys1094=) rs2491080
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964
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.4526G>A (p.Arg1509Lys) rs577061462
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) rs200421954
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.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072
NM_004415.4(DSP):c.7848G>A (p.Ser2616=) rs148798300
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059
NM_004415.4(DSP):c.8508_8517delinsGTCCCGCAGT (p.Gly2836_Ser2839=) rs1561706189
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004572.3(PKP2):c.1558A>G (p.Ile520Val) rs763749576
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_004572.3(PKP2):c.1974A>G (p.Gln658=) rs138901574
NM_004572.3(PKP2):c.2300-21_2300-20del rs200266270
NM_004572.3(PKP2):c.406G>A (p.Val136Met) rs567795321
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del) rs11466445
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=) rs748062476
NM_005159.5(ACTC1):c.129+6C>G rs564151494
NM_005159.5(ACTC1):c.903A>G (p.Leu301=) rs138347995
NM_005902.4(SMAD3):c.1010-10T>C rs1179340088
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln) rs863223765
NM_005902.4(SMAD3):c.401-7C>T rs774268232
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile) rs202094530
NM_005902.4(SMAD3):c.798G>A (p.Ser266=) rs761391442
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp) rs387906850
NM_007078.3(LDB3):c.690-4A>G rs45529531
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.547+14del rs273902771
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met) rs80357374
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter) rs80357251
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.4(BRCA1):c.3093T>A (p.Ile1031=) rs786204265
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys) rs200432771
NM_007294.4(BRCA1):c.4986+6T>C rs80358086
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.4(BRCA1):c.594-2A>C rs80358033
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.81-6T>C rs80358179
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810
NM_016203.4(PRKAG2):c.*2C>T rs199559205
NM_016203.4(PRKAG2):c.1053G>A (p.Glu351=) rs767902787
NM_016203.4(PRKAG2):c.1234-6G>A rs780341115
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) rs767613486
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) rs148791216
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu) rs757900380
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met) rs148056866
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr) rs200736454
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999
NM_024334.2(TMEM43):c.-3A>T rs763829810
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742
NM_024422.6(DSC2):c.474+5C>T rs397517400
NM_024422.6(DSC2):c.669A>G (p.Pro223=) rs923697621
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_053025.4(MYLK):c.24C>G (p.Ala8=) rs78118111
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=) rs147735490
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1749G>A (p.Ser583=) rs970494454
NM_170707.4(LMNA):c.1931G>A (p.Arg644His) rs368386019
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204

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