ClinVar Miner

Variants with conflicting interpretations studied for Primary familial hypertrophic cardiomyopathy

Coded as:
Minimum review status of the submission for Primary familial hypertrophic cardiomyopathy: Y axis collection method of the submission for Primary familial hypertrophic 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
286 219 2 163 82 2 99 307

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
Primary familial hypertrophic cardiomyopathy pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 87 11 2 0 0
likely pathogenic 81 1 61 2 0 0
uncertain significance 15 25 1 57 20 2
likely benign 1 0 18 0 12 0
benign 0 0 5 12 0 0

Condition to condition summary #

Total conditions: 94
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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 provided 0 215 0 89 17 0 40 142
Hypertrophic cardiomyopathy 0 166 1 71 15 0 30 115
not specified 0 90 0 17 54 0 42 109
Cardiovascular phenotype 0 133 0 37 19 0 18 73
Cardiomyopathy 0 67 1 12 21 0 13 46
Primary familial hypertrophic cardiomyopathy 719 56 0 29 2 0 6 37
Familial hypertrophic cardiomyopathy 4 0 32 0 21 2 0 11 33
Familial hypertrophic cardiomyopathy 1 0 25 0 22 3 0 7 32
Dilated Cardiomyopathy, Dominant 0 10 0 4 7 0 2 12
Left ventricular noncompaction cardiomyopathy 0 4 0 4 5 0 2 10
Arrhythmogenic right ventricular cardiomyopathy 0 3 0 2 5 0 0 7
Familial hypertrophic cardiomyopathy 10 0 6 0 2 2 0 3 6
Familial hypertrophic cardiomyopathy 14 0 4 0 1 4 0 0 5
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 0 11 0 2 0 0 3 5
Primary dilated cardiomyopathy 0 14 0 2 2 0 1 5
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 0 7 0 0 4 0 0 4
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 0 3 0 0 4 0 0 4
Familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; Myopathy, distal, 1; Scapuloperoneal myopathy, MYH7-related 0 8 0 4 0 0 0 4
Inborn genetic diseases 0 2 0 1 1 0 2 4
Familial hypertrophic cardiomyopathy 2 0 3 0 3 0 0 0 3
Familial hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 0 9 0 2 0 0 1 3
Left ventricular noncompaction 10 0 6 0 0 2 0 2 3
Myopathy, distal, 1 0 1 0 1 3 0 0 3
Myosin storage myopathy 0 1 0 1 3 0 0 3
Noonan syndrome 0 1 0 3 0 0 0 3
Scapuloperoneal myopathy 0 1 0 1 3 0 0 3
Wolff-Parkinson-White pattern 0 3 0 1 0 0 2 3
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 1 0 1 1 0 0 2
Brugada syndrome 0 2 0 0 2 0 0 2
Brugada syndrome 1 0 0 0 0 0 0 2 2
Catecholaminergic polymorphic ventricular tachycardia 0 1 0 0 2 0 0 2
Dilated cardiomyopathy 1A 0 2 0 1 0 0 1 2
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 0 4 0 0 2 0 0 2
Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 0 1 0 0 2 0 0 2
Dilated cardiomyopathy 2A; Familial restrictive cardiomyopathy 1; Dilated cardiomyopathy 1FF; Familial hypertrophic cardiomyopathy 7 0 0 0 2 0 0 0 2
Ectodermal dysplasia skin fragility syndrome 0 1 0 0 2 0 0 2
Epidermolysis bullosa, lethal acantholytic 0 1 0 0 2 0 0 2
Familial hypertrophic cardiomyopathy 6 0 1 0 2 0 0 0 2
Familial hypertrophic cardiomyopathy 7 0 2 0 2 0 0 1 2
Familial restrictive cardiomyopathy 0 0 0 2 0 0 0 2
Left ventricular noncompaction 6 0 2 0 0 0 0 2 2
Skin fragility woolly hair syndrome 0 1 0 0 2 0 0 2
ANKRD1-related dilated cardiomyopathy 0 0 0 1 0 0 0 1
Alpha-B crystallinopathy 0 0 0 0 1 0 0 1
Arrhythmia 0 0 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 10 0 0 0 0 1 0 1 1
Arrhythmogenic right ventricular cardiomyopathy, type 11 0 1 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 0 0 0 0 1 0 0 1
Camptocormia 0 0 0 1 0 0 0 1
Cardiac arrest 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type 2 0 0 0 0 0 0 1 1
Congenital muscular dystrophy, LMNA-related 0 0 0 0 0 0 1 1
Costello syndrome 0 0 0 0 0 0 1 1
Death in early adulthood 0 0 0 1 0 0 0 1
Death in infancy 0 0 0 0 0 0 1 1
Dilated cardiomyopathy 1AA 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1BB 0 0 0 0 0 1 0 1
Dilated cardiomyopathy 1EE 0 0 0 0 0 0 1 1
Dilated cardiomyopathy 1II 0 0 0 0 1 0 1 1
Dilated cardiomyopathy 1KK 0 1 0 0 1 0 0 1
Dilated cardiomyopathy 1N; Primary familial hypertrophic cardiomyopathy 0 1 0 1 0 0 0 1
Dilated cardiomyopathy 1W 0 1 0 0 1 0 0 1
Distal myopathy Markesbery-Griggs type 0 2 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 11 0 0 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 0 1 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 14; Sudden cardiac death 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; Myopathy, distal, 1; Scapuloperoneal myopathy, MYH7-related 0 0 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 20 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 3 0 2 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 8 0 2 0 1 0 0 0 1
Familial restrictive cardiomyopathy 1 0 1 0 1 0 0 0 1
Hereditary myopathy with early respiratory failure 0 2 0 0 1 0 0 1
Increased left ventricular wall thickness 0 1 0 0 0 0 1 1
LEOPARD syndrome 2; Noonan syndrome 5; Cardiomyopathy, dilated, 1NN 0 0 0 1 0 0 0 1
Left ventricular hypertrophy 0 1 0 0 0 0 1 1
Left ventricular noncompaction 9 0 0 0 1 0 0 0 1
Limb-Girdle Muscular Dystrophy, Recessive 0 2 0 0 1 0 0 1
Limb-girdle muscular dystrophy 0 0 0 1 0 0 0 1
Long QT syndrome 3 0 0 0 0 1 0 0 1
Long qt syndrome 3, acquired, susceptibility to 0 0 0 0 0 1 0 1
MYBPC3-Related Disorders 0 2 0 1 0 0 0 1
MYH7-Related Disorders 0 0 0 0 0 0 1 1
MYL2-Related Disorders 0 0 0 0 0 0 1 1
Myofibrillar Myopathy, Dominant 0 1 0 0 1 0 0 1
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 0 1 0 1 0 0 0 1
Myopathy, early-onset, with fatal cardiomyopathy 0 2 0 0 1 0 0 1
Naxos disease 0 0 0 0 1 0 0 1
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 0 1 0 0 1 0 0 1
Nemaline Myopathy, Recessive 0 0 0 1 0 0 0 1
Posterior polar cataract 0 0 0 0 1 0 0 1
Rasopathy 0 3 0 0 0 0 1 1
Severe combined immunodeficiency disease; Immunodeficiency; Lymphopenia; Abnormality of cellular immune system; Abnormality of T cell physiology; Combined immunodeficiency 0 0 0 1 0 0 0 1
Sudden cardiac death 0 0 0 1 0 0 0 1
Total anomalous pulmonary venous return 0 0 0 1 1 0 0 1

All variants with conflicting interpretations #

Total variants: 307
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HGVS dbSNP
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.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1370C>T (p.Thr457Met) rs370538243
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916
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.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys) rs727503194
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299
NM_000256.3(MYBPC3):c.1863C>T (p.Phe621=) rs193922378
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter) rs397515942
NM_000256.3(MYBPC3):c.206G>A (p.Arg69Gln) rs397515945
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
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.2394dupT (p.Gly799Trpfs) rs730880341
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2441_2443delAGA (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655
NM_000256.3(MYBPC3):c.2490dupT (p.His831Serfs) rs397515966
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.26-2A>G rs376395543
NM_000256.3(MYBPC3):c.2610dupC (p.Ser871Glnfs) rs397515979
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp) rs727504418
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2833_2834delCG (p.Arg945Glyfs) rs397515987
NM_000256.3(MYBPC3):c.2864_2865delCT (p.Pro955Argfs) rs397515990
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.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln) rs727504235
NM_000256.3(MYBPC3):c.3049G>A (p.Glu1017Lys) rs368180702
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile) rs397516002
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958
NM_000256.3(MYBPC3):c.3217dupC (p.Arg1073Profs) rs730880668
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter) rs397516010
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377
NM_000256.3(MYBPC3):c.3297dupG (p.Tyr1100Valfs) rs397516014
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469
NM_000256.3(MYBPC3):c.3332_3335dupAGTG (p.Trp1112Terfs) rs730880337
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.3491-2A>T rs397516022
NM_000256.3(MYBPC3):c.357delA (p.Ala120Profs) rs869025463
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171
NM_000256.3(MYBPC3):c.3624dupC (p.Lys1209Glnfs) rs397516029
NM_000256.3(MYBPC3):c.3628-41_3628-17delAGCCTGGATGGCTTCCCTCCCTCTC rs36212066
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000256.3(MYBPC3):c.3735delC (p.Phe1246Leufs) rs397516038
NM_000256.3(MYBPC3):c.3742_3759dup18 (p.Cys1253_Arg1254insGlyGlyIleTyrValCys) rs193922384
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr) rs397516041
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile) rs397516045
NM_000256.3(MYBPC3):c.459delC (p.Ile154Leufs) rs397516052
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053
NM_000256.3(MYBPC3):c.505+5G>C rs727503219
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000256.3(MYBPC3):c.551dupT (p.Lys185Glufs) rs397516059
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.772+1G>A rs397516072
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.821+1G>A rs397516073
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
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.932C>A (p.Ser311Ter) rs193922386
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000257.2(MYH7):c.1273G>A (p.Gly425Arg) rs397516097
NM_000257.2(MYH7):c.1370T>C (p.Ile457Thr) rs397516103
NM_000257.2(MYH7):c.2788G>A (p.Glu930Lys) rs397516171
NM_000257.2(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.3(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.3(MYH7):c.115G>A (p.Val39Met) rs376160714
NM_000257.3(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.3(MYH7):c.1491G>T (p.Glu497Asp) rs267606911
NM_000257.3(MYH7):c.1727A>G (p.His576Arg) rs727504238
NM_000257.3(MYH7):c.1750G>A (p.Gly584Ser) rs121913626
NM_000257.3(MYH7):c.1816G>A (p.Val606Met) rs121913627
NM_000257.3(MYH7):c.1954A>G (p.Arg652Gly) rs727504239
NM_000257.3(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.3(MYH7):c.2183C>T (p.Ala728Val) rs121913644
NM_000257.3(MYH7):c.2221G>A (p.Gly741Arg) rs121913632
NM_000257.3(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.3(MYH7):c.2471T>C (p.Val824Ala) rs727503255
NM_000257.3(MYH7):c.2539_2541delAAG (p.Lys847del) rs397516155
NM_000257.3(MYH7):c.2543A>G (p.Glu848Gly) rs727504311
NM_000257.3(MYH7):c.2555T>C (p.Met852Thr) rs397516157
NM_000257.3(MYH7):c.2606G>A (p.Arg869His) rs202141173
NM_000257.3(MYH7):c.2644C>G (p.Gln882Glu) rs397516160
NM_000257.3(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.3(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.3(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.3(MYH7):c.2791_2793delGAG (p.Glu931del) rs397516172
NM_000257.3(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540
NM_000257.3(MYH7):c.3346G>A (p.Glu1116Lys) rs727504274
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.438G>T (p.Lys146Asn) rs397516212
NM_000257.3(MYH7):c.4817G>A (p.Arg1606His) rs373514686
NM_000257.3(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340
NM_000257.3(MYH7):c.5305C>A (p.Leu1769Met) rs139222507
NM_000257.3(MYH7):c.5561C>T (p.Thr1854Met) rs372381770
NM_000257.3(MYH7):c.596C>T (p.Ala199Val) rs727504283
NM_000257.3(MYH7):c.619A>C (p.Lys207Gln) rs727504273
NM_000257.3(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.3(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.3(MYH7):c.767G>A (p.Gly256Glu) rs121913633
NM_000257.3(MYH7):c.789A>G (p.Ile263Met) rs730880855
NM_000257.3(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000257.3(MYH7):c.976G>C (p.Ala326Pro) rs372731424
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.1358G>A (p.Arg453His) rs397516101
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) rs121913638
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) rs121913630
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771
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.4909G>A (p.Ala1637Thr) rs141122361
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.77C>T (p.Ala26Val) rs186964570
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.2(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000258.2(MYL3):c.235G>A (p.Val79Ile) rs150634297
NM_000258.2(MYL3):c.281G>A (p.Arg94His) rs199474703
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.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000363.4(TNNI3):c.373-10G= rs7252610
NM_000363.4(TNNI3):c.422G>A (p.Arg141Gln) rs397516347
NM_000363.4(TNNI3):c.433C>T (p.Arg145Trp) rs104894724
NM_000363.4(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.4(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000363.4(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000363.4(TNNI3):c.485G>C (p.Arg162Pro) rs397516354
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_000363.4(TNNI3):c.586G>A (p.Asp196Asn) rs104894727
NM_000363.4(TNNI3):c.592C>G (p.Leu198Val) rs727504285
NM_000363.4(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249
NM_000364.3(TNNT2):c.136G>C (p.Ala46Pro) rs397516447
NM_000364.3(TNNT2):c.294+7G>A rs45490292
NM_000364.3(TNNT2):c.753G>T (p.Glu251Asp) rs45466197
NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000432.3(MYL2):c.*10C>T rs193922452
NM_000432.3(MYL2):c.141C>A (p.Asn47Lys) rs199474808
NM_000432.3(MYL2):c.170-19T>C rs115522476
NM_000432.3(MYL2):c.170G>A (p.Gly57Glu) rs199474809
NM_000432.3(MYL2):c.173G>A (p.Arg58Gln) rs104894369
NM_000432.3(MYL2):c.239C>A (p.Thr80Asn) rs587782965
NM_000432.3(MYL2):c.260G>C (p.Gly87Ala) rs397516399
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000432.3(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000432.3(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_001001430.2(TNNT2):c.244G>A (p.Gly82Arg) rs727504255
NM_001001430.2(TNNT2):c.257A>C (p.Asp86Ala) rs397516455
NM_001001430.2(TNNT2):c.275G>A (p.Arg92Gln) rs121964856
NM_001001430.2(TNNT2):c.281G>A (p.Arg94His) rs397516457
NM_001001430.2(TNNT2):c.291G>T (p.Lys97Asn) rs397516459
NM_001001430.2(TNNT2):c.330T>G (p.Phe110Leu) rs727504331
NM_001001430.2(TNNT2):c.388C>T (p.Arg130Cys) rs397516463
NM_001001430.2(TNNT2):c.536C>T (p.Ser179Phe) rs727504246
NM_001001430.2(TNNT2):c.758A>G (p.Lys253Arg) rs3730238
NM_001001430.2(TNNT2):c.773A>T (p.Lys258Ile) rs397516482
NM_001001430.2(TNNT2):c.857G>A (p.Arg286His) rs141121678
NM_001001430.2(TNNT2):c.860G>A (p.Trp287Ter) rs727504247
NM_001001430.2(TNNT2):c.861G>A (p.Trp287Ter) rs730881116
NM_001018004.1(TPM1):c.775A>G (p.Lys259Glu) rs144045691
NM_001018005.1(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.1(TPM1):c.457C>G (p.His153Asp) rs397516372
NM_001018005.1(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001018005.1(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.1(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.1(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001035.2(RYR2):c.2630A>C (p.His877Pro) rs561321743
NM_001035.2(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663
NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001167819.1(FHL1):c.764G>C (p.Cys255Ser) rs869025431
NM_001256267.1(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801
NM_001256850.1(TTN):c.90492C>A (p.Phe30164Leu) rs587780983
NM_001885.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_001927.3(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001943.4(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_002230.2(JUP):c.1035G>C (p.Lys345Asn) rs150194093
NM_002290.4(LAMA4):c.1256T>C (p.Met419Thr) rs200112094
NM_002294.2(LAMP2):c.-23_-15delGTCGCCGCC rs193922648
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.3010G>T (p.Ala1004Ser) rs143978652
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.4595G>T (p.Arg1532Leu) rs34330111
NM_002471.3(MYH6):c.643-5C>T rs199859986
NM_002667.4(PLN):c.116T>G (p.Leu39Ter) rs111033560
NM_002880.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
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_003673.3(TCAP):c.313G>C (p.Glu105Gln) rs146906267
NM_003673.3(TCAP):c.316C>T (p.Arg106Cys) rs45578741
NM_003803.3(MYOM1):c.1978C>G (p.Pro660Ala) rs201104206
NM_004415.2(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.2(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
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.598-4G>A rs747448946
NM_004517.3(ILK):c.255+4C>T rs371539613
NM_004517.3(ILK):c.282T>C (p.Asn94=) rs143552228
NM_004517.3(ILK):c.65A>G (p.Asn22Ser) rs114115159
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.1576A>G (p.Thr526Ala) rs397516999
NM_004949.4(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_005159.4(ACTC1):c.129+19_129+20insT rs386134228
NM_005159.4(ACTC1):c.129+23dupC rs148433308
NM_005159.4(ACTC1):c.301G>A (p.Glu101Lys) rs193922680
NM_005159.4(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005633.3(SOS1):c.3703C>T (p.Pro1235Ser) rs397517168
NM_006393.2(NEBL):c.267C>G (p.Tyr89Ter) rs147622517
NM_006440.4(TXNRD2):c.174C>T (p.Ala58=) rs767236339
NM_014000.2(VCL):c.1907A>G (p.His636Arg) rs71579374
NM_014391.2(ANKRD1):c.827C>T (p.Ala276Val) rs35550482
NM_016203.3(PRKAG2):c.1030C>T (p.His344Tyr) rs727504392
NM_016203.3(PRKAG2):c.1199C>A (p.Thr400Asn) rs28938173
NM_016203.3(PRKAG2):c.1516G>C (p.Glu506Gln) rs267606978
NM_020433.4(JPH2):c.482C>A (p.Thr161Lys) rs587782951
NM_024422.3(DSC2):c.2687_2688insGA (p.Ala897Lysfs) rs200056085
NM_024422.4(DSC2):c.1264-4G>A rs377439942
NM_032588.3(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_033337.2(CAV3):c.191C>G (p.Thr64Ser) rs121909280
NM_133378.4(TTN):c.17672-4A>G rs72648965
NM_133378.4(TTN):c.23117A>G (p.Tyr7706Cys) rs199557654
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.55885A>G (p.Ile18629Val) rs72646855
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.835C>T (p.Arg279Cys) rs146245480
NM_144573.3(NEXN):c.856C>T (p.Arg286Trp) rs199917913
NM_170707.3(LMNA):c.1609-3C>G rs267607581
NM_170707.3(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_170707.3(LMNA):c.976T>A (p.Ser326Thr) rs56851164
m.4295A>G rs121434467

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