ClinVar Miner

Variants with conflicting interpretations studied for Arrhythmogenic right ventricular cardiomyopathy

Coded as:
Minimum review status of the submission for Arrhythmogenic right ventricular cardiomyopathy: Y axis collection method of the submission for Arrhythmogenic right ventricular cardiomyopathy:
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
235 347 1 204 173 2 12 364

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 conditions
Arrhythmogenic right ventricular cardiomyopathy pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor
pathogenic 0 6 0 0 0 0 0
likely pathogenic 33 0 6 2 1 0 0
uncertain significance 3 5 1 136 60 0 1
likely benign 2 2 42 0 165 1 1
benign 0 0 8 16 0 0 0

Condition to condition summary #

Total conditions: 40
Download table as spreadsheet
Condition 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
not specified 0 56 0 149 129 0 5 269
Cardiomyopathy 0 49 0 132 80 0 4 209
Cardiovascular phenotype 0 55 0 99 72 0 3 171
not provided 0 71 0 60 42 0 4 102
Catecholaminergic polymorphic ventricular tachycardia 0 141 0 38 34 0 0 72
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 0 25 0 47 22 0 0 66
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 11 0 24 14 0 1 37
Arrhythmogenic right ventricular cardiomyopathy 889 24 1 16 14 0 2 33
Arrhythmogenic right ventricular cardiomyopathy, type 10 0 12 0 11 15 0 5 28
Arrhythmogenic right ventricular cardiomyopathy, type 11 0 6 0 8 10 0 1 19
Ectodermal dysplasia skin fragility syndrome 0 127 0 5 7 0 0 12
Epidermolysis bullosa, lethal acantholytic 0 127 0 5 7 0 0 12
Skin fragility woolly hair syndrome 0 127 0 5 7 0 0 12
Arrhythmogenic right ventricular cardiomyopathy, type 5 0 3 1 5 4 0 0 10
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 0 3 0 5 5 0 0 10
Cardiac arrhythmia 0 1 0 5 2 0 0 7
Primary familial hypertrophic cardiomyopathy 0 3 0 2 5 0 0 7
Xeroderma pigmentosum 0 13 0 6 1 0 0 7
Arrhythmogenic right ventricular cardiomyopathy, type 8 0 3 0 1 4 0 0 5
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 0 3 0 1 4 0 0 5
Loeys-Dietz syndrome 4 0 3 0 1 4 0 0 5
Arrhythmia 0 0 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy; Sudden unexplained death 0 0 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia, familial 1 0 0 0 1 0 0 0 1
Arrhythmogenic ventricular cardiomyopathy 0 1 0 1 0 0 0 1
Brugada syndrome 0 2 0 0 1 0 0 1
Cardiomyopathy, arrhythmogenic right ventricular dysplasia 0 0 0 0 0 0 1 1
Catecholaminergic polymorphic ventricular tachycardia type 1 0 1 0 0 1 0 0 1
Dilated cardiomyopathy 1BB 0 0 0 0 0 1 0 1
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8; Epidermolysis bullosa, lethal acantholytic; Skin fragility woolly hair syndrome; Keratosis palmoplantaris striata II; Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 0 1 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 19 0 0 0 0 1 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 0 0 1 0 0 1
Long QT syndrome 0 0 0 1 0 0 0 1
Naxos disease 0 49 0 1 0 0 0 1
Palmoplantar blistering; Skin fragility with non-scarring blistering 0 0 0 0 1 0 0 1
Paroxysmal familial ventricular fibrillation 1 0 0 0 0 0 0 1 1
Primary dilated cardiomyopathy; Migraine; Hemiplegia 0 0 0 0 1 0 0 1
Right ventricular cardiomyopathy 0 0 0 0 0 0 1 1
Xeroderma pigmentosum, group C 0 0 0 1 0 0 0 1
cisplatin response - Toxicity/ADR 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 364
Download table as spreadsheet
HGVS dbSNP
NM_000238.3(KCNH2):c.3133C>T (p.Leu1045Phe) rs199473025
NM_001005242.2(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_001005242.2(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001035.2(RYR2):c.10008G>A (p.Glu3336=) rs753175584
NM_001035.2(RYR2):c.10017C>T (p.His3339=) rs376439588
NM_001035.2(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.2(RYR2):c.1006-12C>T rs367998175
NM_001035.2(RYR2):c.10231-4T>C rs117180147
NM_001035.2(RYR2):c.10231-5C>T rs186326951
NM_001035.2(RYR2):c.10503C>T (p.Thr3501=) rs2797441
NM_001035.2(RYR2):c.1053A>G (p.Thr351=) rs187565743
NM_001035.2(RYR2):c.10641G>A (p.Thr3547=) rs144256966
NM_001035.2(RYR2):c.10776C>T (p.Ser3592=) rs2685301
NM_001035.2(RYR2):c.11039+7T>C rs569571855
NM_001035.2(RYR2):c.11476+15C>T rs192323827
NM_001035.2(RYR2):c.11557+14C>T rs374155447
NM_001035.2(RYR2):c.11766G>A (p.Glu3922=) rs774625105
NM_001035.2(RYR2):c.11835C>T (p.Val3945=) rs78939657
NM_001035.2(RYR2):c.11880+13_11880+16delACTG rs199562036
NM_001035.2(RYR2):c.11963-11T>C rs790889
NM_001035.2(RYR2):c.11988C>T (p.Gly3996=) rs56226196
NM_001035.2(RYR2):c.12027C>T (p.Asn4009=) rs763374929
NM_001035.2(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.2(RYR2):c.1218G>A (p.Ser406=) rs147389346
NM_001035.2(RYR2):c.13260+14A>G rs141528541
NM_001035.2(RYR2):c.13593G>A (p.Lys4531=) rs548313130
NM_001035.2(RYR2):c.1359C>T (p.Ser453=) rs3765097
NM_001035.2(RYR2):c.13656T>C (p.His4552=) rs397516512
NM_001035.2(RYR2):c.13665C>T (p.Ile4555=) rs375213838
NM_001035.2(RYR2):c.13740G>A (p.Thr4580=) rs115854664
NM_001035.2(RYR2):c.13783-6A>G rs790901
NM_001035.2(RYR2):c.13913+12A>C rs790900
NM_001035.2(RYR2):c.13977G>A (p.Glu4659=) rs78369334
NM_001035.2(RYR2):c.13983C>T (p.Tyr4661=) rs138498780
NM_001035.2(RYR2):c.1404G>A (p.Glu468=) rs768538183
NM_001035.2(RYR2):c.14299-12A>G rs41267519
NM_001035.2(RYR2):c.14421C>T (p.Asp4807=) rs75206601
NM_001035.2(RYR2):c.14481C>T (p.Ile4827=) rs114303476
NM_001035.2(RYR2):c.14703G>C (p.Val4901=) rs201371633
NM_001035.2(RYR2):c.14756+12C>T rs2275693
NM_001035.2(RYR2):c.14809-15C>G rs790897
NM_001035.2(RYR2):c.1519G>A (p.Val507Ile) rs16835270
NM_001035.2(RYR2):c.1611G>A (p.Leu537=) rs78281932
NM_001035.2(RYR2):c.1612+13A>G rs368200572
NM_001035.2(RYR2):c.1612+14T>C rs2045955
NM_001035.2(RYR2):c.1776A>T (p.Gly592=) rs72549414
NM_001035.2(RYR2):c.1863C>T (p.His621=) rs17686573
NM_001035.2(RYR2):c.2046A>G (p.Thr682=) rs116098815
NM_001035.2(RYR2):c.2204-7C>G rs147479514
NM_001035.2(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.2(RYR2):c.2301G>T (p.Ser767=) rs117588730
NM_001035.2(RYR2):c.2397-6C>T rs78165942
NM_001035.2(RYR2):c.2574G>A (p.Thr858=) rs367992907
NM_001035.2(RYR2):c.2643A>C (p.Ile881=) rs751869107
NM_001035.2(RYR2):c.2760G>A (p.Glu920=) rs186181155
NM_001035.2(RYR2):c.2772G>A (p.Leu924=) rs780664060
NM_001035.2(RYR2):c.2973A>G (p.Ser991=) rs2253273
NM_001035.2(RYR2):c.3030T>C (p.Asp1010=) rs138064129
NM_001035.2(RYR2):c.3105C>T (p.Tyr1035=) rs747358776
NM_001035.2(RYR2):c.3537T>C (p.Gly1179=) rs397516526
NM_001035.2(RYR2):c.4044G>A (p.Lys1348=) rs755391572
NM_001035.2(RYR2):c.4068C>T (p.Pro1356=) rs199821105
NM_001035.2(RYR2):c.4094C>T (p.Ala1365Val) rs373261115
NM_001035.2(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512
NM_001035.2(RYR2):c.4597-11delA rs3841805
NM_001035.2(RYR2):c.4605G>A (p.Pro1535=) rs201916326
NM_001035.2(RYR2):c.464-8A>C rs10925391
NM_001035.2(RYR2):c.4684-11C>T rs7546045
NM_001035.2(RYR2):c.4684-5G>C rs7522981
NM_001035.2(RYR2):c.4695T>C (p.Pro1565=) rs368826662
NM_001035.2(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.2(RYR2):c.4740G>A (p.Pro1580=) rs79811945
NM_001035.2(RYR2):c.4941G>A (p.Gln1647=) rs727504997
NM_001035.2(RYR2):c.4989C>T (p.Ala1663=) rs147060179
NM_001035.2(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.2(RYR2):c.5373C>A (p.Thr1791=) rs765283048
NM_001035.2(RYR2):c.5400A>G (p.Lys1800=) rs3820216
NM_001035.2(RYR2):c.5571G>A (p.Pro1857=) rs371934582
NM_001035.2(RYR2):c.5586C>T (p.Asp1862=) rs193922628
NM_001035.2(RYR2):c.5619A>G (p.Ala1873=) rs373282364
NM_001035.2(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858
NM_001035.2(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871
NM_001035.2(RYR2):c.576+7G>C rs10925392
NM_001035.2(RYR2):c.5763G>A (p.Arg1921=) rs886046270
NM_001035.2(RYR2):c.577-14G>A rs148019277
NM_001035.2(RYR2):c.6555+6G>A rs372661934
NM_001035.2(RYR2):c.6689-12T>C rs370972311
NM_001035.2(RYR2):c.677-11T>A rs10754602
NM_001035.2(RYR2):c.684C>T (p.Leu228=) rs72549417
NM_001035.2(RYR2):c.6906T>C (p.Leu2302=) rs707189
NM_001035.2(RYR2):c.6928+4G>A rs79862521
NM_001035.2(RYR2):c.7038A>C (p.Ala2346=) rs116601686
NM_001035.2(RYR2):c.7365C>T (p.Asp2455=) rs72549416
NM_001035.2(RYR2):c.7488C>T (p.Leu2496=) rs143906555
NM_001035.2(RYR2):c.7542G>A (p.Leu2514=) rs371088367
NM_001035.2(RYR2):c.7806C>T (p.His2602=) rs684923
NM_001035.2(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134
NM_001035.2(RYR2):c.828A>G (p.Arg276=) rs180711819
NM_001035.2(RYR2):c.8437-7dupG rs148246251
NM_001035.2(RYR2):c.8448C>T (p.Asp2816=) rs144876996
NM_001035.2(RYR2):c.849-8T>C rs16835237
NM_001035.2(RYR2):c.8493T>C (p.Val2831=) rs755660659
NM_001035.2(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813
NM_001035.2(RYR2):c.8913T>C (p.Ile2971=) rs755520825
NM_001035.2(RYR2):c.9067+10C>T rs372631657
NM_001035.2(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001035.2(RYR2):c.9435T>C (p.Ser3145=) rs774657844
NM_001035.2(RYR2):c.9449+8T>A rs60777199
NM_001035.2(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642
NM_001035.2(RYR2):c.9666C>T (p.Ala3222=) rs116442127
NM_001035.2(RYR2):c.9867G>A (p.Gly3289=) rs190537182
NM_001943.3(DSG2):c.1592T>G (p.Phe531Cys) rs200484060
NM_001943.3(DSG2):c.1643G>A (p.Arg548His) rs551034751
NM_001943.3(DSG2):c.1773_1774delTG (p.Cys591Terfs) rs397516703
NM_001943.3(DSG2):c.2234C>T (p.Thr745Met) rs727504783
NM_001943.3(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001943.3(DSG2):c.523+2T>C rs397516709
NM_001943.4(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.4(DSG2):c.1174G>A (p.Val392Ile) rs193922639
NM_001943.4(DSG2):c.1280+10_1280+11delAG rs876657791
NM_001943.4(DSG2):c.137G>A (p.Arg46Gln) rs121913008
NM_001943.4(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.4(DSG2):c.147C>T (p.Arg49=) rs531036279
NM_001943.4(DSG2):c.1543G>A (p.Val515Ile) rs2230235
NM_001943.4(DSG2):c.15G>C (p.Pro5=) rs772663614
NM_001943.4(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.4(DSG2):c.1880-2A>G rs397514038
NM_001943.4(DSG2):c.1914A>G (p.Gly638=) rs200395484
NM_001943.4(DSG2):c.2137G>A (p.Glu713Lys) rs79241126
NM_001943.4(DSG2):c.217-5G>T rs80073511
NM_001943.4(DSG2):c.2192A>C (p.Gln731Pro) rs202063433
NM_001943.4(DSG2):c.2318G>A (p.Arg773Lys) rs2278792
NM_001943.4(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.4(DSG2):c.2505A>G (p.Thr835=) rs1042769
NM_001943.4(DSG2):c.2587A>C (p.Met863Leu) rs16962093
NM_001943.4(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.4(DSG2):c.3061_3062delAG (p.Ser1021Leufs) rs397516706
NM_001943.4(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
NM_001943.4(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_001943.4(DSG2):c.3243C>T (p.Val1081=) rs11542379
NM_001943.4(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489
NM_001943.4(DSG2):c.3321T>C (p.Val1107=) rs1791235
NM_001943.4(DSG2):c.391G>A (p.Ala131Thr) rs373542380
NM_001943.4(DSG2):c.473T>G (p.Val158Gly) rs191143292
NM_001943.4(DSG2):c.524-9T>A rs11876289
NM_001943.4(DSG2):c.6G>A (p.Ala2=) rs368809971
NM_001943.4(DSG2):c.706A>G (p.Thr236Ala) rs727502985
NM_001943.4(DSG2):c.852T>C (p.Asn284=) rs62095193
NM_001943.4(DSG2):c.861C>T (p.Asn287=) rs2230233
NM_001943.4(DSG2):c.877A>G (p.Ile293Val) rs2230234
NM_001943.4(DSG2):c.990C>T (p.Asn330=) rs140575919
NM_001943.4(DSG2):c.991G>A (p.Glu331Lys) rs121913012
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) rs373598034
NM_002230.2(JUP):c.1035G>C (p.Lys345Asn) rs150194093
NM_002230.2(JUP):c.1054+7A>T rs371988639
NM_002230.2(JUP):c.1055-14delT rs140002183
NM_002230.2(JUP):c.1224C>T (p.Leu408=) rs2230408
NM_002230.2(JUP):c.1366G>A (p.Val456Ile) rs78437817
NM_002230.2(JUP):c.1563A>G (p.Ala521=) rs149926974
NM_002230.2(JUP):c.1806C>T (p.Arg602=) rs781934535
NM_002230.2(JUP):c.1824G>A (p.Leu608=) rs376043057
NM_002230.2(JUP):c.1854C>T (p.Ala618=) rs782176670
NM_002230.2(JUP):c.2086+13C>T rs199935213
NM_002230.2(JUP):c.2089A>T (p.Met697Leu) rs1126821
NM_002230.2(JUP):c.213T>C (p.Asp71=) rs7405731
NM_002230.2(JUP):c.546G>A (p.Ser182=) rs202038498
NM_002230.2(JUP):c.560C>T (p.Ala187Val) rs782370709
NM_002230.2(JUP):c.902A>G (p.Glu301Gly) rs782058451
NM_002230.2(JUP):c.909+6C>T rs193922705
NM_003239.4(TGFB3):c.1081-14A>G rs201379167
NM_003239.4(TGFB3):c.1122C>G (p.Ala374=) rs4252345
NM_003239.4(TGFB3):c.1230A>G (p.Lys410=) rs373100223
NM_003239.4(TGFB3):c.293C>T (p.Ser98Leu) rs142047577
NM_003239.4(TGFB3):c.294G>A (p.Ser98=) rs778214495
NM_003239.4(TGFB3):c.339G>A (p.Gly113=) rs886050798
NM_003239.4(TGFB3):c.646+13T>C rs780891440
NM_003239.4(TGFB3):c.744C>A (p.Ile248=) rs45477900
NM_004415.2(DSP):c.*9T>A rs11558732
NM_004415.2(DSP):c.105G>A (p.Gly35=) rs77445784
NM_004415.2(DSP):c.1206G>A (p.Lys402=) rs150422458
NM_004415.2(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.2(DSP):c.1481A>T (p.Tyr494Phe) rs28763961
NM_004415.2(DSP):c.1488G>A (p.Thr496=) rs35820473
NM_004415.2(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.2(DSP):c.2247A>G (p.Leu749=) rs28763963
NM_004415.2(DSP):c.2346C>T (p.Asp782=) rs139071827
NM_004415.2(DSP):c.2422C>T (p.Arg808Cys) rs150339369
NM_004415.2(DSP):c.2673T>C (p.Tyr891=) rs146407262
NM_004415.2(DSP):c.2684A>G (p.Tyr895Cys) rs367752002
NM_004415.2(DSP):c.269A>G (p.Gln90Arg) rs188516326
NM_004415.2(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.2(DSP):c.2773C>T (p.Arg925Trp) rs145933612
NM_004415.2(DSP):c.2774G>A (p.Arg925Gln) rs139799237
NM_004415.2(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.2(DSP):c.3160_3169delAAGAACAAAT (p.Lys1054Serfs) rs397516932
NM_004415.2(DSP):c.3303C>T (p.Tyr1101=) rs372440854
NM_004415.2(DSP):c.3510G>A (p.Glu1170=) rs28763964
NM_004415.2(DSP):c.3616T>A (p.Leu1206Ile) rs151115778
NM_004415.2(DSP):c.3650C>T (p.Thr1217Met) rs535202724
NM_004415.2(DSP):c.3862A>C (p.Lys1288Gln) rs138907450
NM_004415.2(DSP):c.3963G>A (p.Gln1321=) rs61731476
NM_004415.2(DSP):c.4065T>C (p.Tyr1355=) rs148478829
NM_004415.2(DSP):c.4141A>T (p.Thr1381Ser) rs77758574
NM_004415.2(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.2(DSP):c.4383G>A (p.Glu1461=) rs140029036
NM_004415.2(DSP):c.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.2(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
NM_004415.2(DSP):c.4531C>T (p.Gln1511Ter) rs397516940
NM_004415.2(DSP):c.4588G>T (p.Val1530Phe) rs141227126
NM_004415.2(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_004415.2(DSP):c.4741A>G (p.Lys1581Glu) rs186842903
NM_004415.2(DSP):c.4773G>A (p.Arg1591=) rs28763968
NM_004415.2(DSP):c.478C>T (p.Arg160Ter) rs397516943
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.5283C>T (p.Asn1761=) rs763355815
NM_004415.2(DSP):c.5304G>C (p.Gly1768=) rs530612211
NM_004415.2(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.2(DSP):c.5513G>A (p.Arg1838His) rs377715841
NM_004415.2(DSP):c.5523A>C (p.Ser1841=) rs730882116
NM_004415.2(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789
NM_004415.2(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.2(DSP):c.6038G>A (p.Arg2013Gln) rs557263443
NM_004415.2(DSP):c.6390T>C (p.Ala2130=) rs28763969
NM_004415.2(DSP):c.6678T>A (p.Gly2226=) rs149070106
NM_004415.2(DSP):c.7125G>A (p.Gly2375=) rs141709096
NM_004415.2(DSP):c.7278T>C (p.Tyr2426=) rs78843072
NM_004415.2(DSP):c.7548G>A (p.Arg2516=) rs756527780
NM_004415.2(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.2(DSP):c.7734C>T (p.Ser2578=) rs28763970
NM_004415.2(DSP):c.7883T>C (p.Leu2628Pro) rs147484870
NM_004415.2(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004415.2(DSP):c.7995G>A (p.Thr2665=) rs35379048
NM_004415.2(DSP):c.8019C>T (p.Asp2673=) rs144275591
NM_004415.2(DSP):c.8175C>A (p.Arg2725=) rs11558731
NM_004415.2(DSP):c.8191T>C (p.Tyr2731His) rs201397978
NM_004415.2(DSP):c.8300C>A (p.Thr2767Asn) rs34884895
NM_004415.2(DSP):c.8301C>G (p.Thr2767=) rs145362059
NM_004415.2(DSP):c.8455A>C (p.Met2819Leu) rs138329459
NM_004415.2(DSP):c.8467C>G (p.Pro2823Ala) rs142717240
NM_004415.2(DSP):c.8481C>T (p.Ser2827=) rs151029175
NM_004415.2(DSP):c.8605A>G (p.Ile2869Val) rs28763971
NM_004415.2(DSP):c.889G>A (p.Asp297Asn) rs201930322
NM_004415.2(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004415.2(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_004415.2(DSP):c.943C>T (p.Arg315Cys) rs200476515
NM_004415.3(DSP):c.1696G>A (p.Ala566Thr) rs148147581
NM_004415.3(DSP):c.1743C>T (p.Ala581=) rs139095230
NM_004415.3(DSP):c.1903+7T>C rs28763962
NM_004415.3(DSP):c.2596C>T (p.Arg866Cys) rs142429411
NM_004415.3(DSP):c.264C>T (p.Ile88=) rs727502997
NM_004415.3(DSP):c.273+10C>T rs56148603
NM_004415.3(DSP):c.3147G>A (p.Ser1049=) rs756341143
NM_004415.3(DSP):c.3923G>A (p.Arg1308Gln) rs184154918
NM_004415.3(DSP):c.4180C>T (p.Gln1394Ter) rs140474226
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.5316T>C (p.Asp1772=) rs376186141
NM_004415.3(DSP):c.5544G>A (p.Arg1848=) rs727503004
NM_004415.3(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.3(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.3(DSP):c.9C>T (p.Cys3=) rs769032973
NM_004572.3(PKP2):c.-15G>T rs886049325
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116
NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_004572.3(PKP2):c.1116T>C (p.Ala372=) rs142742483
NM_004572.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986
NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297
NM_004572.3(PKP2):c.1170+2T>A rs397516987
NM_004572.3(PKP2):c.1171-10T>C rs200122872
NM_004572.3(PKP2):c.1211dupT (p.Val406Serfs) rs397516989
NM_004572.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_004572.3(PKP2):c.1323G>T (p.Arg441=) rs3748278
NM_004572.3(PKP2):c.1378+1G>C rs397516994
NM_004572.3(PKP2):c.14delG (p.Gly5Alafs) rs397516996
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.1584G>A (p.Thr528=) rs727504098
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.1643delG (p.Gly548Valfs) rs794729137
NM_004572.3(PKP2):c.1671C>T (p.Asn557=) rs535581825
NM_004572.3(PKP2):c.1688+1G>A rs397517003
NM_004572.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884
NM_004572.3(PKP2):c.1759G>A (p.Val587Ile) rs146102241
NM_004572.3(PKP2):c.1760delT (p.Val587Alafs) rs397517009
NM_004572.3(PKP2):c.1821dupT (p.Val608Cysfs) rs397517010
NM_004572.3(PKP2):c.1952_1955dupGAAG (p.Ser652Argfs) rs397517013
NM_004572.3(PKP2):c.2028G>A (p.Trp676Ter) rs193922673
NM_004572.3(PKP2):c.2087A>G (p.Asn696Ser) rs140852019
NM_004572.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.2203C>T (p.Arg735Ter) rs121434421
NM_004572.3(PKP2):c.2299+7C>T rs74072938
NM_004572.3(PKP2):c.2365A>G (p.Ile789Val) rs551045165
NM_004572.3(PKP2):c.2431C>A (p.Arg811Ser) rs139734328
NM_004572.3(PKP2):c.2489+13_2489+14insC rs149968852
NM_004572.3(PKP2):c.2489+1G>T rs111517471
NM_004572.3(PKP2):c.2509delA (p.Ser837Valfs) rs727504432
NM_004572.3(PKP2):c.306C>A (p.Ser102=) rs376613662
NM_004572.3(PKP2):c.337-2A>T rs786204389
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.533dupT (p.His179Alafs) rs769220833
NM_004572.3(PKP2):c.611G>A (p.Arg204His) rs755215178
NM_004572.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004572.3(PKP2):c.772A>T (p.Lys258Ter) rs727504430
NM_004572.3(PKP2):c.791C>T (p.Ala264Val) rs62001016
NM_004572.3(PKP2):c.819G>A (p.Pro273=) rs3748279
NM_004628.4(XPC):c.*133G>A rs377250919
NM_004628.4(XPC):c.*684G>C rs1126547
NM_004628.4(XPC):c.*96C>G rs2229090
NM_004628.4(XPC):c.2815C>A (p.Gln939Lys) rs2228001
NM_004949.4(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_004949.4(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_004949.4(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_004949.4(DSC2):c.942+13_942+15dupTTA rs5823783
NM_021991.3(JUP):c.1377G>T (p.Leu459=) rs147370522
NM_021991.3(JUP):c.1653+10C>A rs73983658
NM_021991.3(JUP):c.1774-13C>T rs116772523
NM_021991.3(JUP):c.2047-14C>G rs116666639
NM_021991.3(JUP):c.405C>T (p.Asp135=) rs17850807
NM_021991.3(JUP):c.425G>A (p.Arg142His) rs41283425
NM_021991.3(JUP):c.867C>T (p.Thr289=) rs2230407
NM_024334.2(TMEM43):c.*115T>C rs1043943
NM_024334.2(TMEM43):c.*719G>T rs3796308
NM_024334.2(TMEM43):c.*771_*775delCAAAA rs141474582
NM_024334.2(TMEM43):c.*8C>T rs192707412
NM_024334.2(TMEM43):c.163-14C>T rs113745859
NM_024334.2(TMEM43):c.163-3delC rs371706980
NM_024334.2(TMEM43):c.222C>T (p.Pro74=) rs34099410
NM_024334.2(TMEM43):c.246G>A (p.Pro82=) rs376098518
NM_024334.2(TMEM43):c.279C>T (p.Gly93=) rs149883381
NM_024334.2(TMEM43):c.333G>A (p.Pro111=) rs774276092
NM_024334.2(TMEM43):c.504A>T (p.Lys168Asn) rs4685076
NM_024334.2(TMEM43):c.536T>C (p.Met179Thr) rs2340917
NM_024334.2(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492
NM_024334.2(TMEM43):c.777C>T (p.His259=) rs143958148
NM_024334.2(TMEM43):c.797G>A (p.Arg266Gln) rs193922707
NM_024334.2(TMEM43):c.82C>T (p.Arg28Trp) rs35028636
NM_024334.2(TMEM43):c.909C>T (p.Ser303=) rs35100587
NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp) rs113449357
NM_024334.2(TMEM43):c.953C>T (p.Ala318Val) rs11924644
NM_024422.3(DSC2):c.111A>G (p.Leu37=) rs12954874
NM_024422.3(DSC2):c.2326A>G (p.Ile776Val) rs1893963
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.1719C>T (p.Asn573=) rs140167653
NM_024422.4(DSC2):c.1787C>T (p.Ala596Val) rs148185335
NM_024422.4(DSC2):c.1788G>A (p.Ala596=) rs146161960
NM_024422.4(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.4(DSC2):c.2430G>A (p.Arg810=) rs755276378
NM_024422.4(DSC2):c.2497C>T (p.Arg833Cys) rs142410803
NM_024422.4(DSC2):c.270G>A (p.Glu90=) rs138643506
NM_024422.4(DSC2):c.32A>G (p.Asn11Ser) rs868333
NM_024422.4(DSC2):c.351A>G (p.Thr117=) rs117812913
NM_024422.4(DSC2):c.631-2A>G rs397514042
NM_024422.4(DSC2):c.663T>A (p.Tyr221Ter) rs145476705
NM_024422.4(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.4(DSC2):c.854T>C (p.Ile285Thr) rs199918720
NM_133378.4(TTN):c.49259-3C>T rs375979145
NM_145046.4(CALR3):c.245A>G (p.Lys82Arg) rs142951029
NM_198056.2(SCN5A):c.52C>T (p.Arg18Trp) rs199473044

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.