Familial isolated dilated cardiomyopathy
General Information (adopted from Orphanet):
Synonyms, Signs: |
Familial or idiopathic dilated cardiomyopathy |
Number of Symptoms | 28 |
OrphanetNr: | 154 |
OMIM Id: |
302045
600884 601154 601493 601494 604145 604288 604765 605582 606685 607482 607487 608569 609909 609915 611407 611615 611878 611879 611880 612158 612877 613122 613172 613252 613286 613424 613426 613642 613694 613697 613740 613881 614672 615184 615235 615248 615373 615396 |
ICD-10: |
I42.0 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | < 50 of 100 000 |
Inheritance: |
Autosomal recessive Multifactorial Monogenic Autosomal dominant 20301486 [IBIS] |
Age of onset: |
All ages 20301486 [IBIS] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Familial dilated cardiomyopathy
-Rare cardiac disease -Rare genetic disease Qualitative or quantitative defects of dystrophin -Rare genetic disease |
Symptom Information:
|
(HPO:0008625) | Severe sensorineural hearing impairment | Occasional [Orphanet] occasional [HPO] | 10769282 | IBIS | 150 / 7739 | |
|
(HPO:0008527) | Congenital sensorineural hearing impairment | Occasional [Orphanet] occasional [HPO] | 10769282 | IBIS | 165 / 7739 | |
|
(HPO:0000407) | Sensorineural hearing impairment | Occasional [Orphanet] | 9426039 | IBIS | 524 / 7739 | |
|
(HPO:0012378) | Fatigue | 20301486 | IBIS | 50 / 7739 | ||
|
(HPO:0000972) | Palmoplantar hyperkeratosis | Occasional [Orphanet] occasional [HPO] | 8682558 | IBIS | 41 / 7739 | |
|
(HPO:0007447) | Diffuse palmoplantar hyperkeratosis | Occasional [Orphanet] occasional [HPO] | 8682558 | IBIS | 8 / 7739 | |
|
(HPO:0011968) | Feeding difficulties | 9290498 | IBIS | 240 / 7739 | ||
|
(HPO:0000982) | Palmoplantar keratoderma | Occasional [Orphanet] | 8682558 | IBIS | 40 / 7739 | |
|
(HPO:0001279) | Syncope | 14581388 | IBIS | 94 / 7739 | ||
|
(HPO:0001297) | Stroke | 20301486 | IBIS | 44 / 7739 | ||
|
(HPO:0001962) | Palpitations | 14581388 | IBIS | 62 / 7739 | ||
|
(HPO:0001711) | Abnormality of the left ventricle | 23022708 | IBIS | 22 / 7739 | ||
|
(HPO:0001635) | Congestive heart failure | 20301486 | IBIS | 232 / 7739 | ||
|
(HPO:0011675) | Arrhythmia | 20301486 | IBIS | 226 / 7739 | ||
|
(HPO:0001907) | Thromboembolism | 20301486 | IBIS | 15 / 7739 | ||
|
(HPO:0000969) | Edema | 20301486 | IBIS | 117 / 7739 | ||
|
(HPO:0003236) | Elevated serum creatine phosphokinase | Occasional [Orphanet] | 10904833 | IBIS | 214 / 7739 | |
|
(HPO:0002789) | Tachypnea | 15626312 | IBIS | 48 / 7739 | ||
|
(HPO:0002094) | Dyspnea | 20301486 | IBIS | 132 / 7739 | ||
|
(HPO:0003198) | Myopathy | Occasional [Orphanet] | 14581388 | IBIS | 151 / 7739 | |
|
(HPO:0100578) | Lipoatrophy | Occasional [Orphanet] | 23329710 | IBIS | 30 / 7739 | |
|
(MedDRA:10000188) | Abnormal weight gain | 9290498 | IBIS | 2 / 7739 | ||
|
(HPO:0012735) | Cough | 10448494 | IBIS | 24 / 7739 | ||
|
(MedDRA:10071436) | Systolic dysfunction | 20301486 | IBIS | 13 / 7739 | ||
|
(HPO:0001699) | Sudden death | 25498755 | IBIS | 34 / 7739 | ||
|
(OMIM) | Left ventricular enlargement | 20301486 | IBIS | 9 / 7739 | ||
|
(MedDRA:10031123) | Orthopnoea | 20301486 | IBIS | 1 / 7739 | ||
|
(OMIM) | Abnormal sweating | 9290498 | IBIS | 2 / 7739 |
Associated genes:
LDB3; TNNT2; SCN5A; TTN; DES; EYA4; SGCD; CSRP3; ABCC9; MYH7; TMPO; PSEN1; PSEN2; VCL; FKTN; TPM1; TNNC1; ACTN2; DSG2; NEXN; RBM20; MYH6; TNNI3; SDHA; BAG3; CRYAB; LAMA4; MYPN; PRDM16; MYBPC3; |
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|---|---|---|
ABCC9 | rs121909304 | pathogenic | RCV000008640.2 |
ACTC1 | rs121912673 | pathogenic | RCV000019988.26 |
ACTC1 | rs121912674 | pathogenic | RCV000019989.27 |
ACTC1 | rs397517065 | likely pathogenic | RCV000038333.2 |
ACTC1 | rs727504379 | likely pathogenic | RCV000154537.1 |
ACTN2 | rs121434525 | pathogenic | RCV000019977.29 |
ACTN2 | rs727502886 | pathogenic | RCV000169904.6 |
ACTN2 | rs786205144 | pathogenic | RCV000169907.5 |
BAG3 | rs387906874 | pathogenic | RCV000023349.2 |
BAG3 | rs387906876 | pathogenic | RCV000023352.2 |
BAG3 | rs397514506 | pathogenic | RCV000032660.2 |
BAG3 | rs397514507 | pathogenic | RCV000032661.2 |
BAG3 | rs727502897 | likely pathogenic | RCV000150174.1 |
BAG3 | rs727505109 | likely pathogenic | RCV000156562.1 |
BAG3 | rs727505283 | likely pathogenic | RCV000156812.1 |
CRYAB | rs141638421 | pathogenic | RCV000034838.28 |
CRYAB | rs150516929 | pathogenic | RCV000034839.24 |
CSRP3 | rs137852764 | pathogenic | RCV000009325.3 |
CSRP3 | rs137852765 | likely pathogenic | RCV000150369.1 |
DES | rs121913002 | pathogenic | RCV000018318.28 |
DES | rs62636491 | likely pathogenic | RCV000171830.1 |
DES | rs62636495 | pathogenic | RCV000037240.2 |
DMD | rs104894787 | pathogenic | RCV000150054.3 |
DMD | rs104894790 | pathogenic | RCV000150053.2 |
DMD | rs104894797 | pathogenic | RCV000150055.3 |
DMD | rs1064325 | pathogenic | RCV000080659.4 |
DMD | rs128625229 | pathogenic | RCV000150056.2 |
DMD | rs128626235 | pathogenic | RCV000150071.2 |
DMD | rs128626242 | pathogenic | RCV000150070.2 |
DMD | rs128626245 | pathogenic | RCV000150068.2 |
DMD | rs128626249 | pathogenic | RCV000150066.2 |
DMD | rs128626250 | pathogenic | RCV000150065.2 |
DMD | rs128626251 | pathogenic | RCV000150064.3 |
DMD | rs128627255 | pathogenic | RCV000012030.17 |
DMD | rs128627256 | pathogenic | RCV000150057.3 |
DMD | rs199774535 | pathogenic | RCV000152881.3 |
DMD | rs201361100 | pathogenic | RCV000179207.1 |
DMD | rs201366610 | pathogenic | RCV000150069.2 |
DMD | rs373804251 | pathogenic | RCV000080682.4 |
DMD | rs398122853 | pathogenic | RCV000150072.3 |
DMD | rs398123827 | pathogenic | RCV000080404.4 |
DMD | rs398123828 | pathogenic | RCV000080405.4 |
DMD | rs398123830 | pathogenic | RCV000080410.4 |
DMD | rs398123831 | pathogenic | RCV000080412.3 |
DMD | rs398123832 | pathogenic | RCV000080413.4 |
DMD | rs398123833 | pathogenic | RCV000080414.3 |
DMD | rs398123834 | pathogenic | RCV000080415.4 |
DMD | rs398123835 | pathogenic | RCV000080416.3 |
DMD | rs398123837 | pathogenic | RCV000080419.4 |
DMD | rs398123838 | pathogenic | RCV000080420.3 |
DMD | rs398123840 | pathogenic | RCV000080422.4 |
DMD | rs398123842 | pathogenic | RCV000080426.3 |
DMD | rs398123844 | pathogenic | RCV000080428.3 |
DMD | rs398123845 | pathogenic | RCV000080430.3 |
DMD | rs398123852 | pathogenic | RCV000080439.4 |
DMD | rs398123853 | pathogenic | RCV000080440.3 |
DMD | rs398123854 | pathogenic | RCV000080441.3 |
DMD | rs398123856 | pathogenic | RCV000080447.3 |
DMD | rs398123857 | pathogenic | RCV000080448.4 |
DMD | rs398123858 | pathogenic | RCV000080449.3 |
DMD | rs398123859 | pathogenic | RCV000080450.3 |
DMD | rs398123861 | pathogenic | RCV000080453.4 |
DMD | rs398123862 | pathogenic | RCV000080454.4 |
DMD | rs398123863 | pathogenic | RCV000080458.4 |
DMD | rs398123864 | pathogenic | RCV000080460.3 |
DMD | rs398123865 | pathogenic | RCV000080461.4 |
DMD | rs398123866 | pathogenic | RCV000080465.3 |
DMD | rs398123867 | pathogenic | RCV000080469.4 |
DMD | rs398123868 | pathogenic | RCV000080470.3 |
DMD | rs398123869 | pathogenic | RCV000080471.3 |
DMD | rs398123870 | pathogenic | RCV000080473.4 |
DMD | rs398123871 | pathogenic | RCV000080475.3 |
DMD | rs398123872 | pathogenic | RCV000080476.4 |
DMD | rs398123873 | pathogenic | RCV000080477.3 |
DMD | rs398123874 | pathogenic | RCV000080478.3 |
DMD | rs398123875 | pathogenic | RCV000080479.4 |
DMD | rs398123876 | pathogenic | RCV000080480.3 |
DMD | rs398123877 | pathogenic | RCV000080483.3 |
DMD | rs398123880 | pathogenic | RCV000080486.3 |
DMD | rs398123881 | pathogenic | RCV000080487.3 |
DMD | rs398123882 | pathogenic | RCV000080489.4 |
DMD | rs398123883 | pathogenic | RCV000080492.4 |
DMD | rs398123884 | pathogenic | RCV000080493.4 |
DMD | rs398123885 | pathogenic | RCV000080494.3 |
DMD | rs398123887 | pathogenic | RCV000080496.4 |
DMD | rs398123888 | pathogenic | RCV000080499.4 |
DMD | rs398123889 | pathogenic | RCV000080500.3 |
DMD | rs398123890 | pathogenic | RCV000080502.3 |
DMD | rs398123891 | pathogenic | RCV000080503.3 |
DMD | rs398123893 | pathogenic | RCV000080506.3 |
DMD | rs398123894 | pathogenic | RCV000080507.3 |
DMD | rs398123895 | pathogenic | RCV000080508.4 |
DMD | rs398123901 | pathogenic | RCV000080514.3 |
DMD | rs398123903 | pathogenic | RCV000080518.4 |
DMD | rs398123905 | pathogenic | RCV000080520.3 |
DMD | rs398123908 | pathogenic | RCV000080523.3 |
DMD | rs398123908 | pathogenic | RCV000080524.3 |
DMD | rs398123909 | pathogenic | RCV000080525.4 |
DMD | rs398123910 | pathogenic | RCV000080526.4 |
DMD | rs398123912 | pathogenic | RCV000080530.3 |
DMD | rs398123913 | pathogenic | RCV000080531.4 |
DMD | rs398123914 | pathogenic | RCV000080532.3 |
DMD | rs398123916 | pathogenic | RCV000080534.3 |
DMD | rs398123917 | pathogenic | RCV000080535.3 |
DMD | rs398123918 | pathogenic | RCV000080537.3 |
DMD | rs398123919 | pathogenic | RCV000080538.3 |
DMD | rs398123920 | pathogenic | RCV000080539.3 |
DMD | rs398123921 | pathogenic | RCV000080540.3 |
DMD | rs398123923 | pathogenic | RCV000080542.4 |
DMD | rs398123927 | pathogenic | RCV000080563.3 |
DMD | rs398123929 | pathogenic | RCV000080565.3 |
DMD | rs398123930 | pathogenic | RCV000080567.3 |
DMD | rs398123932 | pathogenic | RCV000080569.3 |
DMD | rs398123934 | pathogenic | RCV000080572.4 |
DMD | rs398123935 | pathogenic | RCV000080573.4 |
DMD | rs398123936 | pathogenic | RCV000080574.4 |
DMD | rs398123937 | pathogenic | RCV000080578.4 |
DMD | rs398123938 | pathogenic | RCV000080581.3 |
DMD | rs398123939 | pathogenic | RCV000080582.3 |
DMD | rs398123941 | pathogenic | RCV000080584.3 |
DMD | rs398123942 | pathogenic | RCV000080586.4 |
DMD | rs398123943 | pathogenic | RCV000080590.3 |
DMD | rs398123944 | pathogenic | RCV000080591.3 |
DMD | rs398123945 | pathogenic | RCV000080594.4 |
DMD | rs398123946 | pathogenic | RCV000080595.4 |
DMD | rs398123947 | pathogenic | RCV000080598.3 |
DMD | rs398123948 | pathogenic | RCV000080601.4 |
DMD | rs398123949 | pathogenic | RCV000080603.4 |
DMD | rs398123950 | pathogenic | RCV000080608.3 |
DMD | rs398123953 | pathogenic | RCV000080613.3 |
DMD | rs398123954 | pathogenic | RCV000080614.3 |
DMD | rs398123955 | pathogenic | RCV000080615.3 |
DMD | rs398123957 | pathogenic | RCV000080617.4 |
DMD | rs398123958 | pathogenic | RCV000080618.3 |
DMD | rs398123959 | pathogenic | RCV000080619.3 |
DMD | rs398123960 | pathogenic | RCV000080620.3 |
DMD | rs398123961 | pathogenic | RCV000080623.4 |
DMD | rs398123962 | pathogenic | RCV000080624.4 |
DMD | rs398123963 | pathogenic | RCV000080625.3 |
DMD | rs398123964 | pathogenic | RCV000080626.3 |
DMD | rs398123969 | pathogenic | RCV000080631.3 |
DMD | rs398123970 | pathogenic | RCV000080633.3 |
DMD | rs398123971 | pathogenic | RCV000080634.3 |
DMD | rs398123972 | pathogenic | RCV000080635.3 |
DMD | rs398123973 | pathogenic | RCV000080636.3 |
DMD | rs398123974 | pathogenic | RCV000080637.3 |
DMD | rs398123977 | pathogenic | RCV000080641.3 |
DMD | rs398123979 | pathogenic | RCV000080643.4 |
DMD | rs398123980 | pathogenic | RCV000080644.3 |
DMD | rs398123981 | pathogenic | RCV000080648.4 |
DMD | rs398123983 | pathogenic | RCV000080650.3 |
DMD | rs398123985 | pathogenic | RCV000080652.3 |
DMD | rs398123987 | pathogenic | RCV000080654.3 |
DMD | rs398123990 | pathogenic | RCV000080658.3 |
DMD | rs398123991 | pathogenic | RCV000080660.3 |
DMD | rs398123992 | pathogenic | RCV000080661.3 |
DMD | rs398123993 | pathogenic | RCV000080666.4 |
DMD | rs398123995 | pathogenic | RCV000080668.3 |
DMD | rs398123997 | pathogenic | RCV000080671.3 |
DMD | rs398123998 | pathogenic | RCV000080672.3 |
DMD | rs398123999 | pathogenic | RCV000080674.4 |
DMD | rs398124000 | pathogenic | RCV000080676.3 |
DMD | rs398124001 | pathogenic | RCV000080677.4 |
DMD | rs398124002 | pathogenic | RCV000080679.4 |
DMD | rs398124003 | pathogenic | RCV000080680.3 |
DMD | rs398124004 | pathogenic | RCV000080684.4 |
DMD | rs398124005 | pathogenic | RCV000080685.4 |
DMD | rs398124007 | pathogenic | RCV000080687.3 |
DMD | rs398124008 | pathogenic | RCV000080688.3 |
DMD | rs398124011 | pathogenic | RCV000080696.3 |
DMD | rs398124012 | pathogenic | RCV000080698.3 |
DMD | rs398124013 | pathogenic | RCV000080699.3 |
DMD | rs398124032 | pathogenic | RCV000080736.4 |
DMD | rs398124033 | pathogenic | RCV000080738.3 |
DMD | rs398124034 | pathogenic | RCV000080739.3 |
DMD | rs398124035 | pathogenic | RCV000080741.3 |
DMD | rs398124036 | pathogenic | RCV000080743.4 |
DMD | rs398124037 | pathogenic | RCV000080744.3 |
DMD | rs398124038 | pathogenic | RCV000080745.3 |
DMD | rs398124039 | pathogenic | RCV000080746.3 |
DMD | rs398124040 | pathogenic | RCV000080747.3 |
DMD | rs398124042 | pathogenic | RCV000080751.4 |
DMD | rs398124043 | pathogenic | RCV000080752.3 |
DMD | rs398124044 | pathogenic | RCV000080753.4 |
DMD | rs398124049 | pathogenic | RCV000080763.3 |
DMD | rs398124050 | pathogenic | RCV000080765.4 |
DMD | rs398124052 | pathogenic | RCV000080767.4 |
DMD | rs398124053 | pathogenic | RCV000080768.4 |
DMD | rs398124054 | pathogenic | RCV000080770.3 |
DMD | rs398124055 | pathogenic | RCV000080771.3 |
DMD | rs398124056 | pathogenic | RCV000080772.3 |
DMD | rs398124057 | pathogenic | RCV000080773.3 |
DMD | rs398124058 | pathogenic | RCV000080774.4 |
DMD | rs398124059 | pathogenic | RCV000080775.3 |
DMD | rs398124060 | pathogenic | RCV000080778.4 |
DMD | rs398124061 | pathogenic | RCV000080779.3 |
DMD | rs398124062 | pathogenic | RCV000080780.3 |
DMD | rs398124068 | pathogenic | RCV000080795.3 |
DMD | rs398124070 | pathogenic | RCV000080797.4 |
DMD | rs398124072 | pathogenic | RCV000080800.3 |
DMD | rs398124073 | pathogenic | RCV000080801.3 |
DMD | rs398124074 | pathogenic | RCV000080803.4 |
DMD | rs398124075 | pathogenic | RCV000080804.4 |
DMD | rs398124076 | pathogenic | RCV000080808.3 |
DMD | rs398124078 | pathogenic | RCV000080816.4 |
DMD | rs398124080 | pathogenic | RCV000080821.4 |
DMD | rs398124081 | pathogenic | RCV000080822.3 |
DMD | rs398124082 | pathogenic | RCV000080823.3 |
DMD | rs398124082 | pathogenic | RCV000152759.3 |
DMD | rs398124084 | pathogenic | RCV000080825.3 |
DMD | rs398124091 | pathogenic | RCV000080835.4 |
DMD | rs398124092 | pathogenic | RCV000080837.4 |
DMD | rs398124093 | pathogenic | RCV000080838.3 |
DMD | rs398124094 | pathogenic | RCV000080839.4 |
DMD | rs398124094 | pathogenic | RCV000080840.4 |
DMD | rs398124096 | pathogenic | RCV000080843.4 |
DMD | rs398124099 | pathogenic | RCV000080848.3 |
DMD | rs398124100 | pathogenic | RCV000080854.4 |
DMD | rs398124103 | pathogenic | RCV000080859.3 |
DMD | rs398124104 | pathogenic | RCV000080861.3 |
DMD | rs398124105 | pathogenic | RCV000080862.3 |
DMD | rs398124106 | pathogenic | RCV000080863.4 |
DMD | rs72468700 | pathogenic | RCV000080445.4 |
DMD | rs727503802 | pathogenic | RCV000152768.3 |
DMD | rs727503836 | pathogenic | RCV000152918.3 |
DMD | rs727503844 | pathogenic | RCV000176399.1 |
DMD | rs727503850 | pathogenic | RCV000152964.3 |
DMD | rs727503858 | pathogenic | RCV000153001.3 |
DMD | rs727503864 | pathogenic | RCV000153013.3 |
DMD | rs754896795 | pathogenic | RCV000178665.1 |
DMD | rs794726994 | pathogenic | RCV000173793.1 |
DMD | rs794727357 | pathogenic | RCV000176297.1 |
DMD | rs794727422 | pathogenic | RCV000176664.1 |
DMD | rs794727661 | pathogenic | RCV000178435.1 |
DMD | rs794727672 | pathogenic | RCV000178530.1 |
DMD | rs794727862 | pathogenic | RCV000179870.1 |
DMD | rs794727890 | pathogenic | RCV000180066.1 |
DNAJB6 | rs387907150 | pathogenic | RCV000179004.1 |
DSG2 | rs200830807 | likely pathogenic | RCV000171834.1 |
FKTN | rs119463993 | pathogenic | RCV000003364.3 |
FKTN | rs119463994 | pathogenic | RCV000003365.3 |
LAMA4 | rs372615994 | pathogenic | RCV000043518.5 |
LAMA4 | rs387907365 | pathogenic | RCV000043519.3 |
LDB3 | rs121908334 | pathogenic | RCV000036847.2 |
LDB3 | rs121908336 | pathogenic | RCV000004995.3 |
LDB3 | rs121908337 | pathogenic | RCV000004997.3 |
LDB3 | rs121908338 | pathogenic | RCV000004998.3 |
LDB3 | rs121908339 | pathogenic | RCV000004999.3 |
LDB3 | rs45487699 | pathogenic | RCV000004996.3 |
LDB3 | rs45514002 | pathogenic | RCV000005000.4 |
LMNA | rs111569862 | likely pathogenic | RCV000156608.1 |
LMNA | rs11575937 | pathogenic | RCV000041318.2 |
LMNA | rs267607554 | pathogenic | RCV000041382.2 |
LMNA | rs267607573 | likely pathogenic | RCV000041360.2 |
LMNA | rs267607578 | likely pathogenic | RCV000154177.2 |
LMNA | rs267607593 | pathogenic | RCV000041369.2 |
LMNA | rs267607594 | likely pathogenic | RCV000041352.2 |
LMNA | rs267607646 | pathogenic | RCV000041344.2 |
LMNA | rs28928900 | pathogenic | RCV000015566.25 |
LMNA | rs28933090 | pathogenic | RCV000015568.25 |
LMNA | rs28933091 | pathogenic | RCV000015572.26 |
LMNA | rs28933092 | pathogenic | RCV000015573.26 |
LMNA | rs28933093 | pathogenic | RCV000015598.26 |
LMNA | rs386134243 | likely pathogenic | RCV000154175.1 |
LMNA | rs397517886 | likely pathogenic | RCV000041305.2 |
LMNA | rs397517887 | likely pathogenic | RCV000041306.2 |
LMNA | rs397517888 | likely pathogenic | RCV000041307.2 |
LMNA | rs397517889 | likely pathogenic | RCV000041308.2 |
LMNA | rs397517893 | likely pathogenic | RCV000041317.2 |
LMNA | rs397517895 | likely pathogenic | RCV000041321.2 |
LMNA | rs397517904 | likely pathogenic | RCV000041353.2 |
LMNA | rs397517906 | likely pathogenic | RCV000041361.3 |
LMNA | rs397517907 | likely pathogenic | RCV000041363.2 |
LMNA | rs397517908 | likely pathogenic | RCV000041364.2 |
LMNA | rs397517909 | likely pathogenic | RCV000041366.2 |
LMNA | rs397517911 | likely pathogenic | RCV000041375.2 |
LMNA | rs397517915 | pathogenic | RCV000041381.2 |
LMNA | rs56771886 | pathogenic | RCV000015581.21 |
LMNA | rs56816490 | likely pathogenic | RCV000041379.2 |
LMNA | rs56851164 | likely pathogenic | RCV000041383.2 |
LMNA | rs56984562 | pathogenic | RCV000041325.4 |
LMNA | rs56984562 | pathogenic | RCV000022641.21 |
LMNA | rs57077886 | pathogenic | RCV000015599.25 |
LMNA | rs57508089 | likely pathogenic | RCV000041309.2 |
LMNA | rs58013325 | likely pathogenic | RCV000041320.2 |
LMNA | rs58596362 | pathogenic | RCV000150957.1 |
LMNA | rs58917027 | likely pathogenic | RCV000041350.2 |
LMNA | rs58978449 | likely pathogenic | RCV000041365.2 |
LMNA | rs59026483 | pathogenic | RCV000177232.1 |
LMNA | rs59270054 | pathogenic | RCV000156060.1 |
LMNA | rs59301204 | likely pathogenic | RCV000041384.2 |
LMNA | rs60682848 | pathogenic | RCV000056001.3 |
LMNA | rs60890628 | pathogenic | RCV000015612.25 |
LMNA | rs61046466 | pathogenic | RCV000041328.2 |
LMNA | rs61195471 | pathogenic | RCV000055999.2 |
LMNA | rs61295588 | pathogenic | RCV000056000.1 |
LMNA | rs61672878 | pathogenic | RCV000015587.21 |
LMNA | rs727504833 | likely pathogenic | RCV000156173.1 |
LMNA | rs80338938 | pathogenic | RCV000015574.25 |
MYH6 | rs143978652 | pathogenic | RCV000015214.25 |
MYH6 | rs267606905 | pathogenic | RCV000015215.25 |
MYH6 | rs267606906 | pathogenic | RCV000015213.25 |
MYH7 | rs121913642 | pathogenic | RCV000015164.25 |
MYH7 | rs121913643 | pathogenic | RCV000015165.25 |
MYH7 | rs121913645 | pathogenic | RCV000015168.21 |
MYH7 | rs121913646 | pathogenic | RCV000015169.26 |
MYH7 | rs201865159 | likely pathogenic | RCV000171838.1 |
MYH7 | rs377491278 | likely pathogenic | RCV000035741.2 |
MYH7 | rs397516089 | pathogenic | RCV000035698.3 |
MYH7 | rs397516123 | likely pathogenic | RCV000035749.2 |
MYH7 | rs397516142 | likely pathogenic | RCV000035784.2 |
MYH7 | rs397516187 | likely pathogenic | RCV000035858.2 |
MYH7 | rs397516190 | likely pathogenic | RCV000035861.2 |
MYH7 | rs397516252 | likely pathogenic | RCV000035978.2 |
MYH7 | rs397516253 | likely pathogenic | RCV000035980.2 |
MYH7 | rs397516258 | likely pathogenic | RCV000035988.2 |
MYH7 | rs45544633 | likely pathogenic | RCV000151238.1 |
MYH7 | rs606231324 | pathogenic | RCV000154447.1 |
MYH7 | rs727503249 | likely pathogenic | RCV000151246.1 |
MYH7 | rs727503253 | pathogenic | RCV000151258.1 |
MYH7 | rs727504401 | likely pathogenic | RCV000154578.1 |
MYPN | rs140148105 | pathogenic | RCV000043546.2 |
MYPN | rs71534278 | pathogenic | RCV000043541.2 |
MYPN | rs71534280 | pathogenic | RCV000043543.2 |
MYPN | rs71584501 | pathogenic | RCV000043540.2 |
NEXN | rs137853197 | pathogenic | RCV000000354.2 |
NEXN | rs137853198 | pathogenic | RCV000000355.2 |
PLN | rs111033559 | pathogenic | RCV000014606.25 |
PLN | rs111033560 | pathogenic | RCV000171826.1 |
PLN | rs111033560 | pathogenic | RCV000014607.25 |
PLN | rs397516784 | pathogenic | RCV000037582.2 |
PRDM16 | rs201654872 | pathogenic | RCV000054521.2 |
PRDM16 | rs202115331 | pathogenic | RCV000054523.2 |
PRDM16 | rs397514744 | pathogenic | RCV000054522.2 |
PSEN2 | rs63750197 | pathogenic | RCV000009400.3 |
RBM20 | rs267607001 | pathogenic | RCV000000293.3 |
RBM20 | rs267607002 | pathogenic | RCV000170520.2 |
RBM20 | rs267607003 | pathogenic | RCV000000292.3 |
RBM20 | rs267607004 | pathogenic | RCV000000295.4 |
RBM20 | rs267607005 | pathogenic | RCV000000296.2 |
RBM20 | rs727504859 | likely pathogenic | RCV000156214.1 |
SCN5A | rs137854607 | pathogenic | RCV000058706.2 |
SCN5A | rs137854607 | pathogenic | RCV000010009.2 |
SCN5A | rs137854618 | pathogenic | RCV000010003.4 |
SCN5A | rs199473161 | pathogenic | RCV000058500.2 |
SCN5A | rs199473337 | likely pathogenic | RCV000058823.2 |
SCN5A | rs199473341 | pathogenic | RCV000058606.2 |
SCN5A | rs199473642 | pathogenic | RCV000058689.2 |
SCN5A | rs397514450 | pathogenic | RCV000010008.2 |
SCN5A | rs45546039 | pathogenic | RCV000032639.4 |
SCN5A | rs45563942 | pathogenic | RCV000032640.2 |
SCN5A | rs45620037 | pathogenic | RCV000030889.2 |
SDHA | rs137852768 | pathogenic | RCV000009286.3 |
TCAP | rs104894655 | likely pathogenic | RCV000037790.2 |
TCAP | rs149585781 | pathogenic | RCV000170302.4 |
TCAP | rs773317399 | pathogenic | RCV000170301.4 |
TCAP | rs775636212 | pathogenic | RCV000170303.4 |
TMPO | rs17028450 | pathogenic | RCV000013544.24 |
TNNC1 | rs104893823 | pathogenic | RCV000013254.22 |
TNNI3 | rs267607129 | pathogenic | RCV000013244.22 |
TNNI3 | rs267607130 | pathogenic | RCV000013243.24 |
TNNI3 | rs397516352 | likely pathogenic | RCV000036298.2 |
TNNI3 | rs397516355 | pathogenic | RCV000036303.2 |
TNNI3 | rs397516356 | likely pathogenic | RCV000036305.2 |
TNNI3 | rs397516359 | likely pathogenic | RCV000036309.2 |
TNNT2 | rs483352832 | pathogenic | RCV000119344.2 |
TPM1 | rs104894501 | pathogenic | RCV000013275.16 |
TPM1 | rs104894505 | pathogenic | RCV000013274.22 |
TPM1 | rs199476310 | likely pathogenic | RCV000036322.2 |
TPM1 | rs199476311 | likely pathogenic | RCV000036336.2 |
TPM1 | rs199476317 | pathogenic | RCV000036354.2 |
TPM1 | rs397516363 | likely pathogenic | RCV000036316.2 |
TPM1 | rs397516364 | likely pathogenic | RCV000036318.2 |
TPM1 | rs397516369 | likely pathogenic | RCV000036327.2 |
TPM1 | rs397516370 | likely pathogenic | RCV000036328.2 |
TPM1 | rs397516371 | likely pathogenic | RCV000036330.2 |
TPM1 | rs397516373 | likely pathogenic | RCV000036335.2 |
TPM1 | rs397516487 | likely pathogenic | RCV000036630.2 |
TPM1 | rs727504389 | likely pathogenic | RCV000154548.1 |
TTN | rs139517732 | pathogenic | RCV000013492.17 |
TTN | rs147879266 | pathogenic | RCV000013494.23 |
TTN | rs267607155 | pathogenic | RCV000013486.23 |
TTN | rs267607157 | pathogenic | RCV000013491.17 |
TTN | rs267607158 | pathogenic | RCV000013493.17 |
TTN | rs371678190 | likely pathogenic | RCV000152238.1 |
TTN | rs397517497 | likely pathogenic | RCV000039959.2 |
TTN | rs397517547 | likely pathogenic | RCV000040169.2 |
TTN | rs397517565 | likely pathogenic | RCV000040217.2 |
TTN | rs397517576 | likely pathogenic | RCV000040246.2 |
TTN | rs397517580 | likely pathogenic | RCV000040256.2 |
TTN | rs397517584 | likely pathogenic | RCV000040267.2 |
TTN | rs397517586 | likely pathogenic | RCV000040273.2 |
TTN | rs397517587 | likely pathogenic | RCV000040274.2 |
TTN | rs397517589 | likely pathogenic | RCV000040282.2 |
TTN | rs397517601 | likely pathogenic | RCV000040317.2 |
TTN | rs397517620 | likely pathogenic | RCV000040362.2 |
TTN | rs397517624 | likely pathogenic | RCV000040383.2 |
TTN | rs397517626 | likely pathogenic | RCV000040385.2 |
TTN | rs397517628 | likely pathogenic | RCV000040389.2 |
TTN | rs397517631 | likely pathogenic | RCV000040399.2 |
TTN | rs397517633 | likely pathogenic | RCV000040401.2 |
TTN | rs397517643 | likely pathogenic | RCV000040417.2 |
TTN | rs397517664 | likely pathogenic | RCV000040507.2 |
TTN | rs397517679 | likely pathogenic | RCV000040543.2 |
TTN | rs397517689 | pathogenic | RCV000040571.3 |
TTN | rs397517695 | likely pathogenic | RCV000040593.2 |
TTN | rs397517696 | likely pathogenic | RCV000040594.2 |
TTN | rs397517698 | likely pathogenic | RCV000040597.2 |
TTN | rs397517721 | likely pathogenic | RCV000040667.2 |
TTN | rs397517735 | likely pathogenic | RCV000040727.2 |
TTN | rs397517741 | likely pathogenic | RCV000040755.2 |
TTN | rs397517749 | likely pathogenic | RCV000040767.2 |
TTN | rs397517750 | likely pathogenic | RCV000040769.2 |
TTN | rs397517758 | likely pathogenic | RCV000040804.2 |
TTN | rs397517787 | likely pathogenic | RCV000040926.2 |
TTN | rs397517830 | likely pathogenic | RCV000041089.2 |
TTN | rs557312035 | likely pathogenic | RCV000156557.1 |
TTN | rs72646831 | likely pathogenic | RCV000040391.2 |
TTN | rs72646846 | likely pathogenic | RCV000040445.3 |
TTN | rs727503537 | likely pathogenic | RCV000152167.1 |
TTN | rs727503546 | likely pathogenic | RCV000152183.1 |
TTN | rs727503547 | likely pathogenic | RCV000152184.1 |
TTN | rs727503550 | likely pathogenic | RCV000152195.1 |
TTN | rs727503552 | likely pathogenic | RCV000152198.1 |
TTN | rs727503557 | likely pathogenic | RCV000152204.1 |
TTN | rs727503559 | likely pathogenic | RCV000152206.1 |
TTN | rs727503565 | likely pathogenic | RCV000152223.1 |
TTN | rs727503567 | likely pathogenic | RCV000152227.1 |
TTN | rs727503586 | likely pathogenic | RCV000152265.1 |
TTN | rs727503598 | likely pathogenic | RCV000152296.1 |
TTN | rs727503602 | likely pathogenic | RCV000152307.1 |
TTN | rs727503607 | likely pathogenic | RCV000152318.1 |
TTN | rs727503615 | likely pathogenic | RCV000152330.1 |
TTN | rs727503636 | likely pathogenic | RCV000152375.1 |
TTN | rs727503658 | likely pathogenic | RCV000152420.1 |
TTN | rs727503697 | likely pathogenic | RCV000152508.1 |
TTN | rs727504184 | likely pathogenic | RCV000177503.1 |
TTN | rs727504198 | pathogenic | RCV000175258.1 |
TTN | rs727504452 | likely pathogenic | RCV000155429.1 |
TTN | rs727504466 | likely pathogenic | RCV000155591.1 |
TTN | rs727504499 | likely pathogenic | RCV000155637.1 |
TTN | rs727504531 | likely pathogenic | RCV000155681.1 |
TTN | rs727504535 | likely pathogenic | RCV000155686.1 |
TTN | rs727504550 | likely pathogenic | RCV000155712.1 |
TTN | rs727504589 | likely pathogenic | RCV000155762.1 |
TTN | rs727504646 | likely pathogenic | RCV000155909.1 |
TTN | rs727504655 | likely pathogenic | RCV000155919.1 |
TTN | rs727504660 | likely pathogenic | RCV000155924.1 |
TTN | rs727504679 | likely pathogenic | RCV000155948.1 |
TTN | rs727504782 | likely pathogenic | RCV000156100.1 |
TTN | rs727504799 | likely pathogenic | RCV000156125.1 |
TTN | rs727504825 | likely pathogenic | RCV000156164.1 |
TTN | rs727504843 | likely pathogenic | RCV000156186.1 |
TTN | rs727504851 | likely pathogenic | RCV000156200.1 |
TTN | rs727504856 | likely pathogenic | RCV000156206.1 |
TTN | rs727505014 | likely pathogenic | RCV000156437.1 |
TTN | rs727505076 | likely pathogenic | RCV000156516.1 |
TTN | rs727505224 | likely pathogenic | RCV000156722.1 |
TTN | rs727505284 | likely pathogenic | RCV000156813.1 |
TTN | rs727505288 | likely pathogenic | RCV000156817.1 |
TTN | rs727505319 | likely pathogenic | RCV000156861.1 |
TTN | rs727505352 | likely pathogenic | RCV000156911.1 |
TTN | rs730880343 | likely pathogenic | RCV000154660.1 |
TTN | rs730880365 | likely pathogenic | RCV000156488.1 |
TTN | rs763822931 | likely pathogenic | RCV000176816.1 |
TTN | rs771511344 | likely pathogenic | RCV000190634.1 |
TTN | rs786205398 | likely pathogenic | RCV000171846.1 |
TTN | rs794727467 | likely pathogenic | RCV000176899.1 |
TTN | rs794727468 | likely pathogenic | RCV000176901.1 |
TTN | rs794727539 | likely pathogenic | RCV000177487.1 |
TTN | rs797044683 | likely pathogenic | RCV000176244.1 |
TTN | rs797044692 | likely pathogenic | RCV000176604.1 |
VCL | rs121917776 | pathogenic | RCV000012980.16 |
VCL | rs397517234 | likely pathogenic | RCV000038802.2 |
VCL | rs397517237 | likely pathogenic | RCV000171847.1 |
VCL | rs397517239 | likely pathogenic | RCV000038823.2 |
VCL | rs397517244 | likely pathogenic | RCV000038833.2 |
VCL | rs397517245 | likely pathogenic | RCV000038836.2 |
VCL | rs727503738 | likely pathogenic | RCV000152646.1 |
VCL | rs727503741 | likely pathogenic | RCV000152653.1 |
VCL | rs727504381 | likely pathogenic | RCV000154540.1 |
VCL | rs727505159 | likely pathogenic | RCV000156630.1 |