ClinVar Miner

Variants with conflicting interpretations studied for Primary dilated cardiomyopathy

Coded as:
Minimum review status of the submission for Primary dilated cardiomyopathy: Y axis collection method of the submission for Primary dilated 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
448 208 4 121 66 0 71 235

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 dilated cardiomyopathy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 4 20 3 0 0
likely pathogenic 67 0 51 2 0
uncertain significance 7 12 0 32 5
likely benign 5 3 30 0 12
benign 0 0 5 27 0

Condition to condition summary #

Total conditions: 86
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 0 115 0 67 25 0 27 117
not specified 0 103 0 32 37 0 18 85
Cardiovascular phenotype 0 82 0 24 19 0 9 52
Cardiomyopathy 0 35 0 19 11 0 4 34
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 0 21 0 10 4 0 14 28
Charcot-Marie-Tooth disease, type 2 0 9 0 9 2 0 4 15
Hypertrophic cardiomyopathy 0 15 0 8 3 0 2 13
Primary dilated cardiomyopathy 855 26 0 5 1 0 4 10
Dilated cardiomyopathy 1DD 0 4 0 4 2 0 3 9
Dilated cardiomyopathy 1A 0 4 3 3 0 0 0 6
Brugada syndrome 0 4 0 1 4 0 0 5
Dilated cardiomyopathy 1G 0 9 0 3 0 0 2 5
Primary familial hypertrophic cardiomyopathy 0 14 0 2 2 0 1 5
Dilated cardiomyopathy 1KK 0 1 0 1 2 0 3 4
Familial dilated cardiomyopathy 0 3 0 3 0 0 1 4
Dilated Cardiomyopathy, Dominant 0 5 0 3 0 0 0 3
Dilated cardiomyopathy 1W 0 0 0 0 0 0 3 3
Duchenne muscular dystrophy 0 2 0 2 1 0 0 3
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 0 4 0 1 0 0 2 3
Left ventricular noncompaction cardiomyopathy 0 2 0 2 1 0 0 3
Arrhythmia 0 0 0 0 2 0 0 2
Arrhythmogenic right ventricular cardiomyopathy, type 10 0 0 0 1 0 0 1 2
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 0 2 0 1 0 0 1 2
Dilated cardiomyopathy 1T 0 0 0 0 2 0 0 2
Distal myopathy Markesbery-Griggs type 0 2 0 0 1 0 1 2
Familial hypertrophic cardiomyopathy 14 0 1 0 0 2 0 0 2
Familial hypertrophic cardiomyopathy 22 0 0 0 0 0 0 2 2
Familial hypertrophic cardiomyopathy 4 0 3 0 1 0 0 1 2
Hereditary myopathy with early respiratory failure 0 1 0 0 1 0 1 2
Hutchinson-Gilford syndrome 0 0 0 1 0 0 1 2
Left ventricular noncompaction 6 0 2 0 1 0 0 1 2
Left ventricular noncompaction 9 0 0 0 2 0 0 0 2
Loeys-Dietz syndrome 2 0 0 0 1 1 0 0 2
Myofibrillar myopathy 1 0 1 0 2 0 0 0 2
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 0 3 0 2 0 0 0 2
Myopathy, distal, 1 0 0 0 2 0 0 0 2
ANKRD1-related dilated cardiomyopathy 0 4 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 2 0 0 1 0 0 1
Atrioventricular septal defect 4 0 0 0 0 1 0 0 1
Benign scapuloperoneal muscular dystrophy with cardiomyopathy 0 1 1 0 0 0 0 1
Cardiac arrest 0 0 0 1 0 0 0 1
Cardiac arrhythmia 0 0 0 0 1 0 0 1
Charcot-Marie-Tooth disease 0 0 0 0 0 0 1 1
Congenital muscular dystrophy, LMNA-related 0 0 0 1 0 0 0 1
Dilated cardiomyopathy 0 3 0 1 0 0 0 1
Dilated cardiomyopathy 1AA 0 0 0 0 0 0 1 1
Dilated cardiomyopathy 1BB 0 0 0 1 0 0 0 1
Dilated cardiomyopathy 1C 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1CC 0 0 0 1 0 0 0 1
Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 0 0 0 0 0 0 1 1
Dilated cardiomyopathy 1E 0 2 0 0 0 0 1 1
Dilated cardiomyopathy 1EE 0 0 0 0 0 0 1 1
Dilated cardiomyopathy 1HH 0 1 0 1 0 0 0 1
Dilated cardiomyopathy 1I 0 0 0 1 0 0 0 1
Dilated cardiomyopathy 1M 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1S 0 4 0 0 0 0 1 1
Dilated cardiomyopathy 1S; Myopathy, distal, 1 0 0 0 1 0 0 0 1
Dilated cardiomyopathy 1Y 0 0 0 0 0 0 1 1
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 0 4 0 0 1 0 0 1
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Benign scapuloperoneal muscular dystrophy with cardiomyopathy; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy 2; Mandibuloacral dysostosis; Limb-girdle muscular dystrophy, type 1B; Lethal tight skin contracture syndrome; Congenital muscular dystrophy, LMNA-related; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0 0 0 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 0 1 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 12 0 0 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 14; Sudden cardiac death 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 15 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 2 0 0 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 9 0 3 0 0 0 0 1 1
Familial partial lipodystrophy 0 0 0 1 0 0 0 1
Heart-hand syndrome, Slovenian type 0 0 0 1 0 0 0 1
Left ventricular noncompaction 10 0 1 0 0 1 0 1 1
Lethal tight skin contracture syndrome 0 0 0 1 0 0 0 1
Limb-Girdle Muscular Dystrophy, Recessive 0 1 0 1 0 0 0 1
Limb-girdle muscular dystrophy, type 2G 0 0 0 1 0 0 0 1
Limb-girdle muscular dystrophy, type 2J 0 5 0 0 0 0 1 1
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 0 0 0 1 0 0 0 1
Long QT syndrome 0 1 0 1 0 0 0 1
Mandibuloacral dysplasia 0 0 0 1 0 0 0 1
Myofibrillar Myopathy, Dominant 0 0 0 1 0 0 0 1
Myofibrillar myopathy, ZASP-related 0 3 0 0 1 0 0 1
Myopathy, early-onset, with fatal cardiomyopathy 0 3 0 0 0 0 1 1
Nonsyndromic hearing loss and deafness 0 0 0 0 0 0 1 1
Scapuloperoneal weakness 0 0 0 1 0 0 0 1
Sudden cardiac death 0 0 0 1 0 0 0 1
TTN-Related Disorders 0 2 0 0 0 0 1 1
Total anomalous pulmonary venous return 0 0 0 1 1 0 0 1
Wolff-Parkinson-White pattern 0 2 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 235
Download table as spreadsheet
HGVS dbSNP
NM_000109.3(DMD):c.9658T>C (p.Phe3220Leu) rs141392048
NM_000238.3(KCNH2):c.3133C>T (p.Leu1045Phe) rs199473025
NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val) rs730880553
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000257.2(MYH7):c.1888+1G>A rs113186231
NM_000257.2(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647
NM_000257.2(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000257.3(MYH7):c.1128C>A (p.Asp376Glu) rs2231126
NM_000257.3(MYH7):c.1477_1478delAT (p.Met493Valfs) rs727504336
NM_000257.3(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_000257.3(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.3(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.3(MYH7):c.5562G>A (p.Thr1854=) rs368706722
NM_000257.3(MYH7):c.732+1G>A rs730880850
NM_000257.3(MYH7):c.842G>C (p.Arg281Thr) rs730880856
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) rs121913642
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) rs727503254
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000335.4(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339
NM_000335.4(SCN5A):c.3832G>A (p.Val1278Ile) rs199473341
NM_000335.4(SCN5A):c.393-5C>A rs368678204
NM_000335.4(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942
NM_000363.4(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_001001430.2(TNNT2):c.391C>T (p.Arg131Trp) rs74315380
NM_001001430.2(TNNT2):c.392G>C (p.Arg131Pro) rs397516464
NM_001001430.2(TNNT2):c.430C>T (p.Arg144Trp) rs483352832
NM_001001430.2(TNNT2):c.514G>T (p.Ala172Ser) rs730881097
NM_001001430.2(TNNT2):c.517C>T (p.Arg173Trp) rs727503512
NM_001001430.2(TNNT2):c.518G>A (p.Arg173Gln) rs397516471
NM_001001430.2(TNNT2):c.613C>T (p.Arg205Trp) rs45586240
NM_001018005.1(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.1(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.1(TPM1):c.479G>A (p.Arg160His) rs199476311
NM_001035.2(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624
NM_001035.2(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897
NM_001080114.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001080116.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338
NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) rs121434525
NM_001134363.2(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001134363.2(RBM20):c.1898C>T (p.Pro633Leu)
NM_001134363.2(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.2(RBM20):c.1907G>A (p.Arg636His) rs267607004
NM_001134363.2(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001134363.2(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392
NM_001134363.2(RBM20):c.3261_3262delCCinsG (p.Ser1087Argfs) rs727504763
NM_001134363.2(RBM20):c.3545G>A (p.Arg1182His) rs563762318
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001256267.1(MYPN):c.3886T>A (p.Ser1296Thr) rs199585352
NM_001256850.1(TTN):c.102454+1G>A rs112188483
NM_001256850.1(TTN):c.11454delT (p.Asn3818Lysfs) rs727503658
NM_001256850.1(TTN):c.1800+1G>A rs397517497
NM_001256850.1(TTN):c.28091-2A>C rs6716782
NM_001256850.1(TTN):c.30812-1G>A rs202234172
NM_001256850.1(TTN):c.36687delA (p.Val12230Serfs) rs397517565
NM_001256850.1(TTN):c.37675_37676insG (p.Met12559Serfs) rs1553742630
NM_001256850.1(TTN):c.38621dupT (p.Phe12875Ilefs) rs752856716
NM_001256850.1(TTN):c.38677C>T (p.Gln12893Ter) rs727504499
NM_001256850.1(TTN):c.39349C>T (p.Arg13117Ter) rs140743001
NM_001256850.1(TTN):c.39358C>T (p.Pro13120Ser) rs192766485
NM_001256850.1(TTN):c.39361C>T (p.Arg13121Ter) rs770767998
NM_001256850.1(TTN):c.44423-1G>A rs869312070
NM_001256850.1(TTN):c.46816+1G>C rs727504799
NM_001256850.1(TTN):c.4724_4728delTGAAA (p.Met1575Serfs) rs756433029
NM_001256850.1(TTN):c.48470delG (p.Gly16157Alafs) rs794729324
NM_001256850.1(TTN):c.48730G>T (p.Glu16244Ter) rs727503607
NM_001256850.1(TTN):c.54282delG (p.Glu18094Aspfs) rs397517643
NM_001256850.1(TTN):c.56953C>T (p.Arg18985Ter) rs72646846
NM_001256850.1(TTN):c.57294T>A (p.Tyr19098Ter) rs727503586
NM_001256850.1(TTN):c.58102C>T (p.Arg19368Ter) rs368452607
NM_001256850.1(TTN):c.63526C>T (p.Arg21176Ter) rs371678190
NM_001256850.1(TTN):c.66398G>A (p.Trp22133Ter) rs727503567
NM_001256850.1(TTN):c.67057_67063delGCATATGinsTA (p.Ala22353Terfs) rs794729338
NM_001256850.1(TTN):c.69415C>T (p.Arg23139Ter) rs794729285
NM_001256850.1(TTN):c.76955_76956delTT (p.Phe25652Cysfs) rs727504660
NM_001256850.1(TTN):c.81514G>T (p.Glu27172Ter) rs868494032
NM_001256850.1(TTN):c.86916dupA (p.Val28973Serfs) rs730880365
NM_001256850.1(TTN):c.87361_87365dupAAAAG (p.Ser29122Argfs) rs756367933
NM_001256850.1(TTN):c.88243C>T (p.Arg29415Ter) rs72648250
NM_001256850.1(TTN):c.88974delT (p.Phe29658Leufs) rs397517758
NM_001256850.1(TTN):c.89257delCinsTCTAGCAG (p.Pro29753Serfs) rs727503547
NM_001256850.1(TTN):c.92569+1G>C rs727505319
NM_001256850.1(TTN):c.94066+1G>A rs112240298
NM_001256850.1(TTN):c.94071delA (p.Lys31357Asnfs) rs727504535
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184
NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter) rs869312102
NM_001267550.2(TTN):c.12870dupA (p.Val4291Serfs) rs869025556
NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter) rs869312103
NM_001267550.2(TTN):c.27328+5G>A rs397517521
NM_001267550.2(TTN):c.39044-9T>A rs184888200
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.41609-2A>C rs730880244
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580
NM_001267550.2(TTN):c.50858-3C>T rs587782987
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72669delT (p.Asp24224Ilefs) rs727504531
NM_001267550.2(TTN):c.76115dupA (p.Asn25372Lysfs) rs774604740
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) rs869312118
NM_001267550.2(TTN):c.86821+2T>A rs397517735
NM_001267550.2(TTN):c.87716delG (p.Gly29239Aspfs) rs869312028
NM_001267550.2(TTN):c.98299_98300delAG (p.Arg32767Glyfs) rs397517776
NM_001282624.1(LMNA):c.342C>G (p.Asn114Lys) rs28933091
NM_001282625.1(LMNA):c.448A>G (p.Thr150Ala) rs58917027
NM_001390.4(DTNA):c.1249C>T (p.Arg417Trp) rs199867593
NM_001927.3(DES):c.1048C>T (p.Arg350Trp) rs62636492
NM_001927.3(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.3(DES):c.1375G>A (p.Val459Ile) rs73991549
NM_001943.3(DSG2):c.1072G>A (p.Ala358Thr) rs758537946
NM_001943.4(DSG2):c.3059_3062delAGAG (p.Glu1020Alafs) rs397516706
NM_002052.4(GATA4):c.822C>T (p.Cys274=) rs55980825
NM_002290.4(LAMA4):c.1978G>T (p.Asp660Tyr) rs397516720
NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002471.3(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506
NM_002471.3(MYH6):c.67C>T (p.Arg23Cys) rs587782959
NM_002667.4(PLN):c.116T>G (p.Leu39Ter) rs111033560
NM_003276.2(TMPO):c.1277C>T (p.Pro426Leu) rs141443652
NM_003276.2(TMPO):c.2068C>T (p.Arg690Cys) rs17028450
NM_003319.4(TTN):c.35311C>T (p.Arg11771Ter) rs757231565
NM_003319.4(TTN):c.57895C>T (p.Arg19299Ter) rs770038577
NM_003476.4(CSRP3):c.10T>C (p.Trp4Arg) rs45550635
NM_003673.3(TCAP):c.157C>T (p.Gln53Ter) rs104894655
NM_003803.3(MYOM1):c.1978C>G (p.Pro660Ala) rs201104206
NM_004006.2(DMD):c.1337A>G (p.His446Arg) rs72468699
NM_004006.2(DMD):c.2245A>G (p.Ile749Val) rs771803281
NM_004006.2(DMD):c.3406A>T (p.Thr1136Ser) rs3827462
NM_004006.2(DMD):c.5701G>A (p.Ala1901Thr) rs201302282
NM_004100.4:c.724_(804_?)del
NM_004281.3(BAG3):c.1363G>A (p.Glu455Lys) rs397516881
NM_004281.3(BAG3):c.367C>T (p.Arg123Ter) rs387906875
NM_004281.3(BAG3):c.730C>T (p.Gln244Ter) rs876657634
NM_004415.2(DSP):c.5513G>A (p.Arg1838His) rs377715841
NM_004415.3(DSP):c.2131_2132delAG (p.Ser711Cysfs) rs587782927
NM_004415.3(DSP):c.2569G>A (p.Gly857Ser) rs548695484
NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) rs149930872
NM_005572.3(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs) rs58013325
NM_005572.3(LMNA):c.356+1G>C rs794728589
NM_005572.3(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_005572.3(LMNA):c.673C>T (p.Arg225Ter) rs60682848
NM_005726.5(TSFM):c.856C>T (p.Gln286Ter) rs201754030
NM_006393.2(NEBL):c.120A>G (p.Glu40=) rs397517203
NM_006393.2(NEBL):c.1728T>C (p.Asp576=) rs1528182
NM_006393.2(NEBL):c.1775C>A (p.Ala592Glu) rs146275785
NM_006393.2(NEBL):c.180G>C (p.Lys60Asn) rs41277374
NM_006393.2(NEBL):c.1838G>A (p.Arg613Gln) rs151035799
NM_006393.2(NEBL):c.1869+8C>G rs188529864
NM_006393.2(NEBL):c.191A>G (p.Lys64Arg) rs71578975
NM_006393.2(NEBL):c.1962+7A>G rs371630900
NM_006393.2(NEBL):c.205A>G (p.Thr69Ala) rs780384504
NM_006393.2(NEBL):c.2080C>T (p.Arg694Trp) rs114875104
NM_006393.2(NEBL):c.2445G>A (p.Val815=) rs578252294
NM_006393.2(NEBL):c.2482A>G (p.Ile828Val) rs143930021
NM_006393.2(NEBL):c.267C>G (p.Tyr89Ter) rs147622517
NM_006393.2(NEBL):c.480+3A>G rs71578983
NM_006393.2(NEBL):c.604G>A (p.Gly202Arg) rs137973321
NM_006393.2(NEBL):c.682C>G (p.Gln228Glu) rs143644290
NM_006393.2(NEBL):c.82-4A>G rs368268112
NM_006440.4(TXNRD2):c.1077C>T (p.Asp359=) rs147383232
NM_006440.4(TXNRD2):c.1137G>C (p.Val379=) rs184640901
NM_006440.4(TXNRD2):c.1407C>A (p.Asn469Lys) rs200063300
NM_006440.4(TXNRD2):c.462C>T (p.Tyr154=) rs182857388
NM_006440.4(TXNRD2):c.529-5C>T rs766288973
NM_006440.4(TXNRD2):c.529-6C>T rs116054286
NM_006440.4(TXNRD2):c.64G>A (p.Val22Met) rs370819229
NM_006440.4(TXNRD2):c.650C>A (p.Ser217Tyr) rs201913959
NM_006440.4(TXNRD2):c.683-6C>T rs757160421
NM_006440.4(TXNRD2):c.763G>C (p.Gly255Arg) rs76079250
NM_006440.4(TXNRD2):c.816C>T (p.Gly272=) rs144584524
NM_006440.4(TXNRD2):c.858G>C (p.Arg286Ser) rs201503021
NM_006440.4(TXNRD2):c.933C>T (p.Thr311=) rs187065627
NM_007078.2(LDB3):c.1051A>G (p.Thr351Ala) rs138251566
NM_007078.2(LDB3):c.2092G>A (p.Ala698Thr) rs45577134
NM_014000.2(VCL):c.1713delA (p.Ala573Hisfs) rs779488376
NM_014000.2(VCL):c.2828_2829delCT (p.Pro943Argfs) rs781036800
NM_014000.2(VCL):c.562C>T (p.Arg188Ter) rs397517244
NM_014391.2(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476
NM_014391.2(ANKRD1):c.313C>T (p.Pro105Ser) rs148189486
NM_014391.2(ANKRD1):c.319G>T (p.Val107Leu) rs114435632
NM_014391.2(ANKRD1):c.827C>T (p.Ala276Val) rs35550482
NM_024422.4(DSC2):c.1559T>C (p.Ile520Thr) rs561310777
NM_032578.3(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_032578.3(MYPN):c.458A>G (p.Lys153Arg) rs199476401
NM_032578.3(MYPN):c.59A>G (p.Tyr20Cys) rs140148105
NM_133378.4(TTN):c.10361-1G>A rs869312099
NM_133378.4(TTN):c.26542C>T (p.His8848Tyr) rs72650011
NM_133378.4(TTN):c.3100G>A (p.Val1034Met) rs142951505
NM_133378.4(TTN):c.32854G>C (p.Val10952Leu) rs587780488
NM_133378.4(TTN):c.79095_79098delAAAG (p.Gly26368Terfs) rs727504856
NM_133437.4(TTN):c.10670dup (p.Leu3558Thrfs) rs778172350
NM_144573.3(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197
NM_144573.3(NEXN):c.865-5G>A rs727505353
NM_170707.2(LMNA):c.1609-1G>A rs111569862
NM_170707.2(LMNA):c.781_783delAAG (p.Lys261del) rs58978449
NM_170707.2(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_170707.3(LMNA):c.1106T>C (p.Leu369Pro) rs397517886
NM_170707.3(LMNA):c.1112_1115dup (p.Glu372Aspfs) rs397517888
NM_170707.3(LMNA):c.1129C>T (p.Arg377Cys) rs397517889
NM_170707.3(LMNA):c.1157+16G>A rs534807
NM_170707.3(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.3(LMNA):c.1303C>T (p.Arg435Cys) rs150840924
NM_170707.3(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.3(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.3(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.3(LMNA):c.16C>T (p.Gln6Ter) rs61046466
NM_170707.3(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.3(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.3(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.3(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.3(LMNA):c.646C>T (p.Arg216Cys) rs794728591
NM_170707.3(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.3(LMNA):c.749C>T (p.Ala250Val) rs397517907
NM_170707.3(LMNA):c.859delG (p.Ala287Leufs) rs59564495
NM_170707.3(LMNA):c.937-8C>A rs751707982
NM_170707.3(LMNA):c.949G>A (p.Glu317Lys) rs56816490
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) rs794728602
NM_198056.2(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_201555.1(FHL2):c.109G>T (p.Ala37Ser) rs74575749
NM_201555.1(FHL2):c.192C>T (p.Ala64=) rs199943518
NM_201555.1(FHL2):c.321C>T (p.Thr107=) rs139644436
NM_201555.1(FHL2):c.85G>A (p.Val29Met) rs56284940
NM_213569.2(NEBL):c.357+73457dup rs57918610

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