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
197 160 2 103 101 2 88 253

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 39 8 2 2 0
likely pathogenic 48 1 45 4 0 0
uncertain significance 16 29 1 74 28 2
likely benign 1 0 17 0 13 0
benign 0 0 5 12 0 0

Condition to condition summary #

Total conditions: 95
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 provided 0 151 0 61 62 0 40 157
not specified 0 96 0 18 59 0 37 109
Hypertrophic cardiomyopathy 0 106 1 51 9 0 28 88
Cardiovascular phenotype 0 103 0 24 19 0 16 58
Cardiomyopathy 0 60 1 11 25 0 12 48
Familial hypertrophic cardiomyopathy 4 0 29 0 18 4 0 10 30
Familial hypertrophic cardiomyopathy 1 0 20 0 10 4 0 7 21
Primary familial hypertrophic cardiomyopathy 568 29 0 9 2 0 2 13
Dilated Cardiomyopathy, Dominant 0 12 0 4 7 0 2 12
Left ventricular noncompaction cardiomyopathy 0 5 0 4 5 0 2 10
Arrhythmogenic right ventricular cardiomyopathy 0 4 0 2 5 0 0 7
Familial hypertrophic cardiomyopathy 10 0 5 0 1 1 0 2 4
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 0 6 0 0 0 0 4 4
Inborn genetic diseases 0 2 0 0 1 0 3 4
Primary dilated cardiomyopathy 0 14 0 2 1 0 1 4
Left ventricular noncompaction 10 0 5 0 0 2 0 2 3
Left ventricular noncompaction 6 0 1 0 0 0 0 3 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
Brugada syndrome 0 3 0 0 2 0 0 2
Brugada syndrome 1 0 1 0 0 0 0 2 2
Dilated cardiomyopathy 1A 0 2 0 1 0 0 1 2
Dilated cardiomyopathy 1EE 0 0 0 0 0 0 2 2
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 0 3 0 0 2 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 dilated cardiomyopathy 0 2 0 2 0 0 0 2
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 6 0 2 0 0 0 2
Familial hypertrophic cardiomyopathy 2 0 1 0 2 0 0 1 2
Familial hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 0 7 0 1 0 0 1 2
Familial hypertrophic cardiomyopathy 7 0 0 0 1 0 0 1 2
Familial restrictive cardiomyopathy 0 0 0 2 0 0 0 2
Long QT syndrome 0 0 0 1 1 0 0 2
Skin fragility woolly hair syndrome 0 1 0 0 2 0 0 2
Ventricular fibrillation 0 0 0 0 2 0 0 2
Wolff-Parkinson-White pattern 0 4 0 0 0 0 2 2
Alpha-B crystallinopathy 0 0 0 0 1 0 0 1
Amyloidogenic transthyretin amyloidosis 0 1 0 1 0 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 0 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 2 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
Cardiomyopathy; Heart failure, systolic 0 0 0 1 0 0 0 1
Cardiomyopathy; Supraventricular tachycardia 0 0 0 0 1 0 0 1
Charcot-Marie-Tooth disease, type 2 0 2 0 0 0 0 1 1
Congenital muscular dystrophy, LMNA-related 0 0 0 0 0 0 1 1
Congestive heart failure; Hypertrophic cardiomyopathy 0 0 0 0 1 0 0 1
Costello syndrome 0 0 0 0 0 0 1 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 1FF 0 0 0 1 0 0 0 1
Dilated cardiomyopathy 1II 0 0 0 0 0 0 1 1
Dilated cardiomyopathy 2A; Familial restrictive cardiomyopathy 1; Dilated cardiomyopathy 1FF; Familial hypertrophic cardiomyopathy 7 0 1 0 1 0 0 0 1
Dilated cardiomyopathy with woolly hair and keratoderma 0 0 0 0 1 0 0 1
Distal myopathy Markesbery-Griggs type 0 2 0 0 1 0 0 1
Fabry disease 0 1 0 1 0 0 1 1
Familial hypertrophic cardiomyopathy 11 0 0 0 1 0 0 0 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 8 0 1 0 0 0 0 1 1
Familial restrictive cardiomyopathy 1 0 0 0 1 0 0 0 1
Increased left ventricular wall thickness 0 1 0 0 0 0 1 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 0 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
Limb-Girdle Muscular Dystrophy, Recessive 0 2 0 0 1 0 0 1
Long QT syndrome 3 0 0 0 0 1 0 0 1
Long QT syndrome; Hypertrophic cardiomyopathy 0 0 0 1 0 0 0 1
Long QT syndrome; Hypertrophic cardiomyopathy; Sudden unexplained death 0 0 0 0 1 0 0 1
Long qt syndrome 3, acquired, susceptibility to 0 0 0 0 0 1 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 with postural muscle atrophy, X-linked 0 1 0 1 0 0 0 1
Myopathy, early-onset, with fatal cardiomyopathy 0 2 0 0 1 0 0 1
Myopathy, myofibrillar, 9, with early respiratory failure 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
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Neuromuscular Diseases 0 1 0 1 0 0 0 1
Rasopathy 0 4 0 0 0 0 1 1
Restrictive cardiomyopathy 0 0 0 1 0 0 0 1
Restrictive cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 1 0 0 0 1
Supraventricular tachycardia 0 0 0 0 0 0 1 1
Total anomalous pulmonary venous return 0 0 0 1 1 0 0 1
Ventricular tachycardia; Dilated cardiomyopathy 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 253
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HGVS dbSNP
NM_000116.5(TAZ):c.700-5C>T rs782731479
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) rs397515884
NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs) rs869025465
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377
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.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
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+4A>T rs397515916
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1639_1640GT[1] (p.Tyr548fs) 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.206G>A (p.Arg69Gln) rs397515945
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722
NM_000256.3(MYBPC3):c.221C>TT rs1555123743
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260
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.2429G>A (p.Arg810His) rs375675796
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2432_2434AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000256.3(MYBPC3):c.26-2A>G rs376395543
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) 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.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln) rs727504235
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.3253G>T (p.Glu1085Ter) rs397516010
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs) rs397516014
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469
NM_000256.3(MYBPC3):c.3404_3406ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120
NM_000256.3(MYBPC3):c.357del (p.Ala120fs) rs869025463
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171
NM_000256.3(MYBPC3):c.3694A>T (p.Lys1232Ter) rs397516035
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195
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.530G>A (p.Arg177His) rs201012766
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.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.821+1G>A rs397516073
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) 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.961G>A (p.Val321Met) rs200119454
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.115G>A (p.Val39Met) rs376160714
NM_000257.4(MYH7):c.1318G>A (p.Val440Met) rs397516098
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>A (p.Gly584Ser) rs121913626
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
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.2183C>T (p.Ala728Val) rs121913644
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly) rs727504311
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173
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.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540
NM_000257.4(MYH7):c.3622G>A (p.Asp1208Asn) rs730880781
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.4135G>A (p.Ala1379Thr) rs397516202
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771
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.4817G>A (p.Arg1606His) rs373514686
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.5243G>A (p.Cys1748Tyr) rs200303340
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) rs139222507
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln) rs727504273
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu) rs727503277
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000257.4(MYH7):c.789A>G (p.Ile263Met) rs730880855
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.2(MYL3):c.235G>A (p.Val79Ile) rs150634297
NM_000258.2(MYL3):c.451G>A (p.Ala151Thr) rs869025486
NM_000258.2(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000363.5(TNNI3):c.373-10= rs7252610
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000363.5(TNNI3):c.526G>A (p.Val176Met) rs727503501
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249
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.173G>A (p.Arg58Gln) rs104894369
NM_000432.3(MYL2):c.239C>A (p.Thr80Asn) rs587782965
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu) rs144045691
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663
NM_001099404.1(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_001103.3(ACTN2):c.1307A>C (p.Glu436Ala) rs199955427
NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr) rs200112094
NM_001105206.3(LAMA4):c.2614C>G (p.Pro872Ala) rs180931319
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.2089G>A (p.Gly697Arg) rs376463335
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr) rs370728359
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654
NM_001267550.2(TTN):c.2775+4G>A rs548681281
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) rs199620003
NM_001267550.2(TTN):c.34241_34243AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064
NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr) rs730880239
NM_001267550.2(TTN):c.57770G>A (p.Arg19257Gln) rs202076328
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu) rs587780983
NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile) rs375533809
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro) rs397516447
NM_001276345.2(TNNT2):c.294+7G>A rs45490292
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) rs727504331
NM_001276345.2(TNNT2):c.451del (p.Arg151fs) rs730881115
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile) rs397516482
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) rs141121678
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_001330.3(CTF1):c.274G>A (p.Ala92Thr) rs2234933
NM_001354691.2(RAF1):c.-7_-6delinsAT rs876657965
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093
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.3347G>A (p.Arg1116His) rs369247906
NM_002471.3(MYH6):c.4136C>T (p.Thr1379Met) rs145611185
NM_002471.3(MYH6):c.4369G>A (p.Glu1457Lys) rs267606905
NM_002471.3(MYH6):c.4595G>T (p.Arg1532Leu) rs34330111
NM_002471.3(MYH6):c.643-5C>T rs199859986
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_003476.5(CSRP3):c.16G>A (p.Gly6Arg) rs185980145
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_004006.2(DMD):c.5723A>T (p.Asp1908Val) rs145266970
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.4(DSP):c.5379+8C>G rs771984464
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.4(DSP):c.598-4G>A rs747448946
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_004517.4(ILK):c.157T>A (p.Leu53Met) rs200336608
NM_004517.4(ILK):c.631C>T (p.Arg211Cys) rs140322345
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_004572.3(PKP2):c.2392A>G (p.Thr798Ala) rs112592855
NM_005159.5(ACTC1):c.129+18dup rs148433308
NM_005159.5(ACTC1):c.129+19_129+20insT rs386134228
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680
NM_005633.3(SOS1):c.3703C>T (p.Pro1235Ser) rs397517168
NM_006440.5(TXNRD2):c.174C>T (p.Ala58=) rs767236339
NM_013995.2(LAMP2):c.-32_-24GTCGCCGCC[1] rs193922648
NM_014000.2(VCL):c.1907A>G (p.His636Arg) rs71579374
NM_014391.2(ANKRD1):c.820T>C (p.Tyr274His) rs377074932
NM_014391.2(ANKRD1):c.827C>T (p.Ala276Val) rs35550482
NM_020433.4(JPH2):c.482C>A (p.Thr161Lys) rs587782951
NM_022114.4(PRDM16):c.2296G>A (p.Gly766Ser) rs199998420
NM_024422.6(DSC2):c.1264-4G>A rs377439942
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_032578.3(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801
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_144573.3(NEXN):c.835C>T (p.Arg279Cys) rs146245480
NM_144573.3(NEXN):c.856C>T (p.Arg286Trp) rs199917913
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164
NM_198056.2(SCN5A):c.3578G>A (p.Arg1193Gln) rs41261344
NM_198056.2(SCN5A):c.4534C>T (p.Arg1512Trp) rs137854602
NM_213569.2(NEBL):c.357+73473C>G rs147622517
m.4295A>G rs121434467

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