Familial isolated hypertrophic cardiomyopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 23 |
| OrphanetNr: | 155 |
| OMIM Id: |
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| ICD-10: |
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| 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: | <= 200 of 100 000 |
| Inheritance: |
Multifactorial Monogenic Autosomal dominant 20301725 [IBIS] |
| Age of onset: |
All ages 20301725 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare familial disorder with hypertrophic cardiomyopathy
-Rare cardiac disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0001278) | Orthostatic hypotension | 20301725 | IBIS | 24 / 7739 | ||
|
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(HPO:0100749) | Chest pain | 20301725 | IBIS | 92 / 7739 | ||
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(HPO:0012670) | Orthostatic syncope | 20301725 | IBIS | 2 / 7739 | ||
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(HPO:0001685) | Myocardial fibrosis | 20301725 | IBIS | 30 / 7739 | ||
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(HPO:0001712) | Left ventricular hypertrophy | 20301725 | IBIS | 76 / 7739 | ||
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(HPO:0011103) | Abnormality of the left ventricular outflow tract | 20301725 | IBIS | 12 / 7739 | ||
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(HPO:0001670) | Asymmetric septal hypertrophy | 20301725 | IBIS | 19 / 7739 | ||
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(HPO:0001645) | Sudden cardiac death | 20301725 | IBIS | 84 / 7739 | ||
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(HPO:0004308) | Ventricular arrhythmia | 20301725 | IBIS | 46 / 7739 | ||
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(HPO:0001633) | Abnormality of the mitral valve | 20301725 | IBIS | 69 / 7739 | ||
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(HPO:0001653) | Mitral regurgitation | 20301725 | IBIS | 64 / 7739 | ||
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(HPO:0000822) | Hypertension | 20301725 | IBIS | 224 / 7739 | ||
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(HPO:0011025) | Abnormality of cardiovascular system physiology | 20301725 | IBIS | 41 / 7739 | ||
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(HPO:0001682) | Subaortic stenosis | 13499764 | IBIS | 17 / 7739 | ||
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(HPO:0005110) | Atrial fibrillation | 20301725 | IBIS | 71 / 7739 | ||
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(HPO:0001962) | Palpitations | 20301725 | IBIS | 62 / 7739 | ||
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(HPO:0001907) | Thromboembolism | 20301725 | IBIS | 15 / 7739 | ||
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(HPO:0005957) | Breathing dysregulation | 20301725 | IBIS | 6 / 7739 | ||
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(HPO:0002875) | Exertional dyspnea | 20301725 | IBIS | 29 / 7739 | ||
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(OMIM) | Myocyte disarray on cardiac biopsy | 21831889 | IBIS | 6 / 7739 | ||
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(IBIS) | Impaired left ventricular relaxation | 20301725 | IBIS | 1 / 7739 | ||
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(MedDRA:10052337) | Diastolic dysfunction | 20301725 | IBIS | 14 / 7739 | ||
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(MedDRA:10036653) | Presyncope | 20301725 | IBIS | 4 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| ACTC1 | rs121912675 | pathogenic | RCV000019990.27 |
| ACTC1 | rs121912676 | pathogenic | RCV000019991.27 |
| ACTC1 | rs193922680 | pathogenic | RCV000029295.3 |
| ACTC1 | rs193922681 | likely pathogenic | RCV000029294.1 |
| ACTC1 | rs267606628 | pathogenic | RCV000019995.27 |
| ACTC1 | rs267606629 | pathogenic | RCV000019994.27 |
| ACTC1 | rs767734253 | likely pathogenic | RCV000201495.1 |
| ACTN2 | rs200248944 | likely pathogenic | RCV000171827.1 |
| ACTN2 | rs200248944 | pathogenic | RCV000169901.3 |
| ACTN2 | rs727502886 | pathogenic | RCV000169905.5 |
| ACTN2 | rs727502886 | pathogenic | RCV000150148.1 |
| ACTN2 | rs786204949 | pathogenic | RCV000169900.3 |
| ACTN2 | rs786204950 | pathogenic | RCV000169902.3 |
| ACTN2 | rs786204951 | pathogenic | RCV000169903.4 |
| ANKRD1 | rs145387010 | likely pathogenic | RCV000171828.1 |
| CALR3 | rs142951029 | pathogenic | RCV000023894.3 |
| CAV3 | rs121909280 | pathogenic | RCV000008785.3 |
| CSRP3 | rs104894204 | pathogenic | RCV000009322.2 |
| CSRP3 | rs104894205 | pathogenic | RCV000009323.3 |
| CSRP3 | rs137852765 | pathogenic | RCV000009326.3 |
| CSRP3 | rs142019584 | likely pathogenic | RCV000201497.1 |
| CSRP3 | rs281865416 | pathogenic | RCV000009324.3 |
| DES | rs267607490 | likely pathogenic | RCV000155027.2 |
| JPH2 | rs140740776 | pathogenic | RCV000023411.2 |
| JPH2 | rs387906897 | pathogenic | RCV000023409.2 |
| JPH2 | rs387906898 | pathogenic | RCV000023410.2 |
| JPH2 | rs587782951 | likely pathogenic | RCV000143902.2 |
| LAMP2 | rs193922649 | likely pathogenic | RCV000030113.1 |
| LDB3 | rs145983824 | pathogenic | RCV000170304.3 |
| LDB3 | rs45487699 | pathogenic | RCV000170300.3 |
| MT-TG | rs121434475 | pathogenic | RCV000010235.4 |
| MT-TI | rs121434467 | pathogenic | RCV000010226.2 |
| MT-TI | rs121434470 | pathogenic | RCV000010229.2 |
| MYBPC3 | rs111437311 | pathogenic | RCV000151121.1 |
| MYBPC3 | rs112738974 | pathogenic | RCV000035478.4 |
| MYBPC3 | rs112738974 | pathogenic | RCV000161124.1 |
| MYBPC3 | rs112738974 | pathogenic | RCV000035479.2 |
| MYBPC3 | rs113358486 | likely pathogenic | RCV000035564.3 |
| MYBPC3 | rs113358486 | pathogenic | RCV000161117.1 |
| MYBPC3 | rs121909374 | pathogenic | RCV000201915.1 |
| MYBPC3 | rs121909374 | pathogenic | RCV000035424.4 |
| MYBPC3 | rs121909375 | pathogenic | RCV000009145.3 |
| MYBPC3 | rs121909378 | pathogenic | RCV000009135.4 |
| MYBPC3 | rs187830361 | likely pathogenic | RCV000154174.1 |
| MYBPC3 | rs187830361 | likely pathogenic | RCV000030283.4 |
| MYBPC3 | rs190228518 | pathogenic | RCV000201869.1 |
| MYBPC3 | rs193922379 | likely pathogenic | RCV000030284.1 |
| MYBPC3 | rs193922383 | pathogenic | RCV000154181.1 |
| MYBPC3 | rs193922383 | pathogenic | RCV000030289.4 |
| MYBPC3 | rs193922384 | pathogenic | RCV000030290.1 |
| MYBPC3 | rs193922386 | likely pathogenic | RCV000030293.1 |
| MYBPC3 | rs193922386 | pathogenic | RCV000151149.1 |
| MYBPC3 | rs199728019 | likely pathogenic | RCV000157307.1 |
| MYBPC3 | rs199865688 | pathogenic | RCV000054797.5 |
| MYBPC3 | rs200399246 | likely pathogenic | RCV000168793.1 |
| MYBPC3 | rs200411226 | pathogenic | RCV000171824.1 |
| MYBPC3 | rs200411226 | likely pathogenic | RCV000201509.1 |
| MYBPC3 | rs200625851 | pathogenic | RCV000054800.4 |
| MYBPC3 | rs201078659 | likely pathogenic | RCV000035681.2 |
| MYBPC3 | rs36211723 | likely pathogenic | RCV000161126.2 |
| MYBPC3 | rs36211723 | likely pathogenic | RCV000030282.3 |
| MYBPC3 | rs36212066 | likely pathogenic | RCV000154274.2 |
| MYBPC3 | rs367947846 | pathogenic | RCV000154309.1 |
| MYBPC3 | rs368121566 | likely pathogenic | RCV000149885.1 |
| MYBPC3 | rs368765949 | likely pathogenic | RCV000201437.1 |
| MYBPC3 | rs371061770 | likely pathogenic | RCV000148658.1 |
| MYBPC3 | rs371401403 | pathogenic | RCV000023054.4 |
| MYBPC3 | rs371401403 | likely pathogenic | RCV000171835.1 |
| MYBPC3 | rs373746463 | pathogenic | RCV000009133.3 |
| MYBPC3 | rs373746463 | pathogenic | RCV000035581.3 |
| MYBPC3 | rs373746463 | likely pathogenic | RCV000035582.3 |
| MYBPC3 | rs375471260 | likely pathogenic | RCV000201432.1 |
| MYBPC3 | rs375675796 | likely pathogenic | RCV000201483.1 |
| MYBPC3 | rs375882485 | pathogenic | RCV000035406.3 |
| MYBPC3 | rs375882485 | pathogenic | RCV000161122.2 |
| MYBPC3 | rs376395543 | pathogenic | RCV000161119.1 |
| MYBPC3 | rs376395543 | likely pathogenic | RCV000035512.3 |
| MYBPC3 | rs387906397 | pathogenic | RCV000009152.5 |
| MYBPC3 | rs387907267 | pathogenic | RCV000030699.6 |
| MYBPC3 | rs397514752 | pathogenic | RCV000054804.3 |
| MYBPC3 | rs397515884 | likely pathogenic | RCV000157306.1 |
| MYBPC3 | rs397515888 | pathogenic | RCV000035372.2 |
| MYBPC3 | rs397515889 | pathogenic | RCV000035373.2 |
| MYBPC3 | rs397515891 | pathogenic | RCV000035376.2 |
| MYBPC3 | rs397515893 | likely pathogenic | RCV000035378.2 |
| MYBPC3 | rs397515894 | pathogenic | RCV000035379.2 |
| MYBPC3 | rs397515895 | pathogenic | RCV000035383.2 |
| MYBPC3 | rs397515896 | pathogenic | RCV000035388.2 |
| MYBPC3 | rs397515897 | pathogenic | RCV000035391.2 |
| MYBPC3 | rs397515902 | likely pathogenic | RCV000035397.2 |
| MYBPC3 | rs397515903 | pathogenic | RCV000035398.2 |
| MYBPC3 | rs397515905 | likely pathogenic | RCV000035403.3 |
| MYBPC3 | rs397515910 | likely pathogenic | RCV000035413.3 |
| MYBPC3 | rs397515910 | pathogenic | RCV000161129.1 |
| MYBPC3 | rs397515912 | likely pathogenic | RCV000168782.1 |
| MYBPC3 | rs397515912 | likely pathogenic | RCV000168781.1 |
| MYBPC3 | rs397515916 | likely pathogenic | RCV000035422.3 |
| MYBPC3 | rs397515920 | pathogenic | RCV000035427.2 |
| MYBPC3 | rs397515925 | pathogenic | RCV000035432.3 |
| MYBPC3 | rs397515926 | pathogenic | RCV000035435.2 |
| MYBPC3 | rs397515931 | pathogenic | RCV000035446.2 |
| MYBPC3 | rs397515932 | pathogenic | RCV000151111.1 |
| MYBPC3 | rs397515933 | pathogenic | RCV000035448.2 |
| MYBPC3 | rs397515934 | pathogenic | RCV000035449.2 |
| MYBPC3 | rs397515935 | pathogenic | RCV000035450.2 |
| MYBPC3 | rs397515937 | pathogenic | RCV000157326.1 |
| MYBPC3 | rs397515937 | pathogenic | RCV000009136.4 |
| MYBPC3 | rs397515942 | pathogenic | RCV000035459.2 |
| MYBPC3 | rs397515943 | pathogenic | RCV000035460.2 |
| MYBPC3 | rs397515944 | pathogenic | RCV000035461.2 |
| MYBPC3 | rs397515947 | pathogenic | RCV000035464.2 |
| MYBPC3 | rs397515948 | pathogenic | RCV000035465.2 |
| MYBPC3 | rs397515952 | pathogenic | RCV000035470.3 |
| MYBPC3 | rs397515954 | pathogenic | RCV000035473.3 |
| MYBPC3 | rs397515960 | pathogenic | RCV000035483.2 |
| MYBPC3 | rs397515963 | pathogenic | RCV000157312.1 |
| MYBPC3 | rs397515963 | pathogenic | RCV000162332.1 |
| MYBPC3 | rs397515963 | pathogenic | RCV000035487.3 |
| MYBPC3 | rs397515965 | pathogenic | RCV000035490.2 |
| MYBPC3 | rs397515966 | likely pathogenic | RCV000157328.1 |
| MYBPC3 | rs397515966 | pathogenic | RCV000035493.2 |
| MYBPC3 | rs397515970 | pathogenic | RCV000201921.1 |
| MYBPC3 | rs397515970 | pathogenic | RCV000035500.2 |
| MYBPC3 | rs397515972 | likely pathogenic | RCV000035502.2 |
| MYBPC3 | rs397515973 | pathogenic | RCV000035503.2 |
| MYBPC3 | rs397515974 | pathogenic | RCV000154489.1 |
| MYBPC3 | rs397515975 | pathogenic | RCV000035507.2 |
| MYBPC3 | rs397515977 | pathogenic | RCV000035509.3 |
| MYBPC3 | rs397515979 | pathogenic | RCV000035514.2 |
| MYBPC3 | rs397515982 | pathogenic | RCV000035519.2 |
| MYBPC3 | rs397515987 | pathogenic | RCV000035530.2 |
| MYBPC3 | rs397515991 | pathogenic | RCV000035538.2 |
| MYBPC3 | rs397515992 | pathogenic | RCV000035540.2 |
| MYBPC3 | rs397515992 | pathogenic | RCV000201916.1 |
| MYBPC3 | rs397515995 | pathogenic | RCV000035544.2 |
| MYBPC3 | rs397516000 | likely pathogenic | RCV000168808.1 |
| MYBPC3 | rs397516001 | pathogenic | RCV000035556.2 |
| MYBPC3 | rs397516005 | pathogenic | RCV000035563.4 |
| MYBPC3 | rs397516005 | pathogenic | RCV000154167.1 |
| MYBPC3 | rs397516006 | pathogenic | RCV000035565.2 |
| MYBPC3 | rs397516007 | pathogenic | RCV000035566.3 |
| MYBPC3 | rs397516008 | pathogenic | RCV000035567.3 |
| MYBPC3 | rs397516010 | pathogenic | RCV000035569.2 |
| MYBPC3 | rs397516013 | pathogenic | RCV000035575.2 |
| MYBPC3 | rs397516014 | pathogenic | RCV000035576.2 |
| MYBPC3 | rs397516014 | likely pathogenic | RCV000157318.1 |
| MYBPC3 | rs397516019 | pathogenic | RCV000035589.2 |
| MYBPC3 | rs397516020 | pathogenic | RCV000009137.4 |
| MYBPC3 | rs397516022 | likely pathogenic | RCV000168818.1 |
| MYBPC3 | rs397516022 | pathogenic | RCV000035592.3 |
| MYBPC3 | rs397516023 | pathogenic | RCV000035593.2 |
| MYBPC3 | rs397516024 | likely pathogenic | RCV000035595.2 |
| MYBPC3 | rs397516028 | likely pathogenic | RCV000201471.1 |
| MYBPC3 | rs397516030 | pathogenic | RCV000035602.2 |
| MYBPC3 | rs397516031 | pathogenic | RCV000035603.2 |
| MYBPC3 | rs397516032 | pathogenic | RCV000035604.2 |
| MYBPC3 | rs397516035 | pathogenic | RCV000035608.2 |
| MYBPC3 | rs397516037 | pathogenic | RCV000035610.3 |
| MYBPC3 | rs397516038 | likely pathogenic | RCV000035612.2 |
| MYBPC3 | rs397516039 | pathogenic | RCV000154451.1 |
| MYBPC3 | rs397516040 | likely pathogenic | RCV000035616.3 |
| MYBPC3 | rs397516041 | likely pathogenic | RCV000035618.2 |
| MYBPC3 | rs397516042 | pathogenic | RCV000035619.2 |
| MYBPC3 | rs397516044 | likely pathogenic | RCV000035621.2 |
| MYBPC3 | rs397516045 | likely pathogenic | RCV000035622.2 |
| MYBPC3 | rs397516047 | pathogenic | RCV000035624.2 |
| MYBPC3 | rs397516049 | pathogenic | RCV000035626.2 |
| MYBPC3 | rs397516052 | pathogenic | RCV000035630.3 |
| MYBPC3 | rs397516056 | pathogenic | RCV000035639.2 |
| MYBPC3 | rs397516056 | likely pathogenic | RCV000168745.1 |
| MYBPC3 | rs397516057 | pathogenic | RCV000035640.2 |
| MYBPC3 | rs397516058 | pathogenic | RCV000035645.2 |
| MYBPC3 | rs397516059 | pathogenic | RCV000035646.2 |
| MYBPC3 | rs397516061 | pathogenic | RCV000035650.2 |
| MYBPC3 | rs397516067 | pathogenic | RCV000035659.2 |
| MYBPC3 | rs397516068 | likely pathogenic | RCV000168751.1 |
| MYBPC3 | rs397516068 | likely pathogenic | RCV000035660.2 |
| MYBPC3 | rs397516070 | pathogenic | RCV000035663.3 |
| MYBPC3 | rs397516073 | pathogenic | RCV000035667.3 |
| MYBPC3 | rs397516073 | pathogenic | RCV000155722.2 |
| MYBPC3 | rs397516074 | pathogenic | RCV000035668.4 |
| MYBPC3 | rs397516076 | pathogenic | RCV000035671.2 |
| MYBPC3 | rs397516082 | pathogenic | RCV000035682.2 |
| MYBPC3 | rs398123279 | pathogenic | RCV000151119.1 |
| MYBPC3 | rs573821685 | pathogenic | RCV000151075.1 |
| MYBPC3 | rs573916965 | likely pathogenic | RCV000168764.1 |
| MYBPC3 | rs587776699 | pathogenic | RCV000009149.4 |
| MYBPC3 | rs587776700 | pathogenic | RCV000009150.4 |
| MYBPC3 | rs587782957 | likely pathogenic | RCV000143911.1 |
| MYBPC3 | rs587782958 | likely pathogenic | RCV000143916.2 |
| MYBPC3 | rs727503166 | likely pathogenic | RCV000168827.1 |
| MYBPC3 | rs727503170 | likely pathogenic | RCV000151064.2 |
| MYBPC3 | rs727503172 | pathogenic | RCV000151070.2 |
| MYBPC3 | rs727503174 | pathogenic | RCV000151074.2 |
| MYBPC3 | rs727503176 | pathogenic | RCV000151078.1 |
| MYBPC3 | rs727503178 | pathogenic | RCV000151080.1 |
| MYBPC3 | rs727503180 | pathogenic | RCV000151082.2 |
| MYBPC3 | rs727503182 | pathogenic | RCV000151085.1 |
| MYBPC3 | rs727503184 | pathogenic | RCV000151088.1 |
| MYBPC3 | rs727503186 | pathogenic | RCV000151091.1 |
| MYBPC3 | rs727503187 | pathogenic | RCV000151093.1 |
| MYBPC3 | rs727503190 | pathogenic | RCV000023053.5 |
| MYBPC3 | rs727503192 | pathogenic | RCV000168791.1 |
| MYBPC3 | rs727503192 | pathogenic | RCV000151107.1 |
| MYBPC3 | rs727503195 | likely pathogenic | RCV000168786.1 |
| MYBPC3 | rs727503197 | pathogenic | RCV000151117.1 |
| MYBPC3 | rs727503203 | pathogenic | RCV000151138.2 |
| MYBPC3 | rs727503204 | pathogenic | RCV000151139.1 |
| MYBPC3 | rs727503209 | pathogenic | RCV000151145.1 |
| MYBPC3 | rs727503210 | pathogenic | RCV000151146.1 |
| MYBPC3 | rs727503211 | pathogenic | RCV000151147.1 |
| MYBPC3 | rs727503212 | pathogenic | RCV000151152.1 |
| MYBPC3 | rs727503217 | pathogenic | RCV000151164.1 |
| MYBPC3 | rs727503218 | likely pathogenic | RCV000168747.1 |
| MYBPC3 | rs727503219 | pathogenic | RCV000151167.1 |
| MYBPC3 | rs727503220 | likely pathogenic | RCV000151171.1 |
| MYBPC3 | rs727504234 | pathogenic | RCV000168759.1 |
| MYBPC3 | rs727504248 | pathogenic | RCV000154220.1 |
| MYBPC3 | rs727504252 | pathogenic | RCV000154225.1 |
| MYBPC3 | rs727504265 | pathogenic | RCV000154248.1 |
| MYBPC3 | rs727504276 | pathogenic | RCV000154279.1 |
| MYBPC3 | rs727504279 | likely pathogenic | RCV000154284.1 |
| MYBPC3 | rs727504287 | likely pathogenic | RCV000201476.1 |
| MYBPC3 | rs727504288 | likely pathogenic | RCV000157327.1 |
| MYBPC3 | rs727504288 | likely pathogenic | RCV000168801.1 |
| MYBPC3 | rs727504289 | pathogenic | RCV000154302.1 |
| MYBPC3 | rs727504305 | pathogenic | RCV000154354.1 |
| MYBPC3 | rs727504321 | pathogenic | RCV000154411.2 |
| MYBPC3 | rs727504329 | pathogenic | RCV000154425.1 |
| MYBPC3 | rs727504333 | pathogenic | RCV000154442.1 |
| MYBPC3 | rs727504334 | pathogenic | RCV000154446.1 |
| MYBPC3 | rs727504349 | pathogenic | RCV000154470.1 |
| MYBPC3 | rs727504366 | pathogenic | RCV000154502.1 |
| MYBPC3 | rs727504371 | pathogenic | RCV000154510.1 |
| MYBPC3 | rs727504380 | likely pathogenic | RCV000154539.1 |
| MYBPC3 | rs727504390 | pathogenic | RCV000154552.1 |
| MYBPC3 | rs727504418 | likely pathogenic | RCV000154612.1 |
| MYBPC3 | rs727504423 | pathogenic | RCV000154619.1 |
| MYBPC3 | rs727505152 | pathogenic | RCV000156620.1 |
| MYBPC3 | rs730880138 | likely pathogenic | RCV000157315.1 |
| MYBPC3 | rs730880140 | likely pathogenic | RCV000157317.1 |
| MYBPC3 | rs730880142 | likely pathogenic | RCV000157323.1 |
| MYBPC3 | rs730880143 | likely pathogenic | RCV000157324.1 |
| MYBPC3 | rs730880335 | pathogenic | RCV000154272.1 |
| MYBPC3 | rs730880336 | pathogenic | RCV000154299.2 |
| MYBPC3 | rs730880337 | pathogenic | RCV000154325.1 |
| MYBPC3 | rs730880361 | pathogenic | RCV000156319.1 |
| MYBPC3 | rs730880362 | pathogenic | RCV000156329.1 |
| MYBPC3 | rs730880366 | pathogenic | RCV000156505.1 |
| MYBPC3 | rs730880531 | likely pathogenic | RCV000168772.1 |
| MYBPC3 | rs730880618 | pathogenic | RCV000168743.1 |
| MYBPC3 | rs730880649 | pathogenic | RCV000201914.1 |
| MYBPC3 | rs749310275 | likely pathogenic | RCV000201491.1 |
| MYBPC3 | rs769167548 | likely pathogenic | RCV000201486.1 |
| MYBPC3 | rs786204324 | pathogenic | RCV000168738.1 |
| MYBPC3 | rs786204327 | likely pathogenic | RCV000168748.1 |
| MYBPC3 | rs786204329 | pathogenic | RCV000168752.1 |
| MYBPC3 | rs786204332 | likely pathogenic | RCV000168756.1 |
| MYBPC3 | rs786204338 | likely pathogenic | RCV000168773.1 |
| MYBPC3 | rs786204339 | likely pathogenic | RCV000168774.1 |
| MYBPC3 | rs786204340 | likely pathogenic | RCV000168779.1 |
| MYBPC3 | rs786204352 | likely pathogenic | RCV000168805.1 |
| MYBPC3 | rs786204362 | likely pathogenic | RCV000168826.1 |
| MYH6 | rs267606904 | likely pathogenic | RCV000171836.1 |
| MYH6 | rs267606904 | pathogenic | RCV000015212.25 |
| MYH6 | rs267606907 | pathogenic | RCV000015210.21 |
| MYH7 | rs121913624 | pathogenic | RCV000035708.2 |
| MYH7 | rs121913624 | pathogenic | RCV000015157.21 |
| MYH7 | rs121913624 | pathogenic | RCV000015143.26 |
| MYH7 | rs121913625 | pathogenic | RCV000035717.2 |
| MYH7 | rs121913625 | pathogenic | RCV000015190.21 |
| MYH7 | rs121913626 | likely pathogenic | RCV000035744.2 |
| MYH7 | rs121913627 | pathogenic | RCV000035750.5 |
| MYH7 | rs121913628 | pathogenic | RCV000035824.2 |
| MYH7 | rs121913629 | pathogenic | RCV000015149.25 |
| MYH7 | rs121913630 | pathogenic | RCV000035771.2 |
| MYH7 | rs121913630 | likely pathogenic | RCV000201494.1 |
| MYH7 | rs121913631 | pathogenic | RCV000035820.2 |
| MYH7 | rs121913632 | likely pathogenic | RCV000168865.1 |
| MYH7 | rs121913632 | pathogenic | RCV000162338.2 |
| MYH7 | rs121913632 | likely pathogenic | RCV000035778.2 |
| MYH7 | rs121913632 | likely pathogenic | RCV000035779.2 |
| MYH7 | rs121913632 | likely pathogenic | RCV000154255.1 |
| MYH7 | rs121913633 | pathogenic | RCV000036002.2 |
| MYH7 | rs121913633 | pathogenic | RCV000015155.25 |
| MYH7 | rs121913634 | pathogenic | RCV000015156.25 |
| MYH7 | rs121913636 | pathogenic | RCV000015159.21 |
| MYH7 | rs121913637 | pathogenic | RCV000035768.2 |
| MYH7 | rs121913637 | pathogenic | RCV000015160.26 |
| MYH7 | rs121913638 | pathogenic | RCV000035767.2 |
| MYH7 | rs121913639 | pathogenic | RCV000015162.25 |
| MYH7 | rs121913640 | pathogenic | RCV000015150.25 |
| MYH7 | rs121913641 | likely pathogenic | RCV000201464.1 |
| MYH7 | rs121913641 | pathogenic | RCV000035770.2 |
| MYH7 | rs121913644 | pathogenic | RCV000015167.25 |
| MYH7 | rs121913651 | pathogenic | RCV000015176.25 |
| MYH7 | rs121913654 | pathogenic | RCV000015182.26 |
| MYH7 | rs138049878 | likely pathogenic | RCV000168875.1 |
| MYH7 | rs145532615 | likely pathogenic | RCV000168882.1 |
| MYH7 | rs148808089 | pathogenic | RCV000162335.1 |
| MYH7 | rs186964570 | likely pathogenic | RCV000168831.1 |
| MYH7 | rs193922387 | likely pathogenic | RCV000030315.1 |
| MYH7 | rs193922388 | likely pathogenic | RCV000030316.1 |
| MYH7 | rs193922390 | likely pathogenic | RCV000030320.3 |
| MYH7 | rs199577321 | likely pathogenic | RCV000168830.1 |
| MYH7 | rs200303340 | likely pathogenic | RCV000157365.1 |
| MYH7 | rs200939753 | likely pathogenic | RCV000171839.1 |
| MYH7 | rs201895208 | likely pathogenic | RCV000171840.1 |
| MYH7 | rs2069544 | likely pathogenic | RCV000168869.1 |
| MYH7 | rs267606908 | pathogenic | RCV000015185.26 |
| MYH7 | rs267606908 | pathogenic | RCV000035817.2 |
| MYH7 | rs267606910 | pathogenic | RCV000015186.25 |
| MYH7 | rs267606911 | likely pathogenic | RCV000035727.2 |
| MYH7 | rs267606911 | pathogenic | RCV000015184.25 |
| MYH7 | rs2754158 | likely pathogenic | RCV000201448.1 |
| MYH7 | rs3218713 | pathogenic | RCV000036000.2 |
| MYH7 | rs3218714 | pathogenic | RCV000035707.2 |
| MYH7 | rs36211715 | pathogenic | RCV000157361.2 |
| MYH7 | rs369437262 | likely pathogenic | RCV000168915.1 |
| MYH7 | rs369940645 | likely pathogenic | RCV000201453.1 |
| MYH7 | rs373514686 | likely pathogenic | RCV000201450.1 |
| MYH7 | rs376754645 | likely pathogenic | RCV000168870.1 |
| MYH7 | rs376897125 | likely pathogenic | RCV000201440.1 |
| MYH7 | rs397516087 | likely pathogenic | RCV000201479.1 |
| MYH7 | rs397516097 | likely pathogenic | RCV000035712.2 |
| MYH7 | rs397516098 | likely pathogenic | RCV000035713.2 |
| MYH7 | rs397516101 | likely pathogenic | RCV000201462.1 |
| MYH7 | rs397516101 | likely pathogenic | RCV000035718.2 |
| MYH7 | rs397516110 | likely pathogenic | RCV000201470.1 |
| MYH7 | rs397516113 | likely pathogenic | RCV000168857.1 |
| MYH7 | rs397516115 | likely pathogenic | RCV000154263.1 |
| MYH7 | rs397516121 | likely pathogenic | RCV000035747.2 |
| MYH7 | rs397516127 | likely pathogenic | RCV000168861.1 |
| MYH7 | rs397516130 | pathogenic | RCV000162340.1 |
| MYH7 | rs397516132 | likely pathogenic | RCV000035763.2 |
| MYH7 | rs397516142 | likely pathogenic | RCV000157360.1 |
| MYH7 | rs397516152 | likely pathogenic | RCV000035798.2 |
| MYH7 | rs397516153 | likely pathogenic | RCV000151268.1 |
| MYH7 | rs397516155 | likely pathogenic | RCV000201461.1 |
| MYH7 | rs397516155 | likely pathogenic | RCV000143922.2 |
| MYH7 | rs397516156 | likely pathogenic | RCV000035803.2 |
| MYH7 | rs397516157 | likely pathogenic | RCV000201446.1 |
| MYH7 | rs397516161 | likely pathogenic | RCV000162341.2 |
| MYH7 | rs397516166 | likely pathogenic | RCV000035818.2 |
| MYH7 | rs397516170 | likely pathogenic | RCV000168878.1 |
| MYH7 | rs397516171 | pathogenic | RCV000035826.2 |
| MYH7 | rs397516171 | likely pathogenic | RCV000151255.1 |
| MYH7 | rs397516172 | likely pathogenic | RCV000035827.2 |
| MYH7 | rs397516178 | likely pathogenic | RCV000035841.2 |
| MYH7 | rs397516187 | likely pathogenic | RCV000168889.1 |
| MYH7 | rs397516209 | likely pathogenic | RCV000168835.1 |
| MYH7 | rs397516212 | likely pathogenic | RCV000035907.2 |
| MYH7 | rs397516212 | pathogenic | RCV000162334.1 |
| MYH7 | rs397516248 | likely pathogenic | RCV000168917.1 |
| MYH7 | rs397516264 | likely pathogenic | RCV000035995.2 |
| MYH7 | rs397516264 | likely pathogenic | RCV000162339.1 |
| MYH7 | rs397516269 | likely pathogenic | RCV000201434.1 |
| MYH7 | rs397516269 | pathogenic | RCV000036004.2 |
| MYH7 | rs397516272 | likely pathogenic | RCV000201478.1 |
| MYH7 | rs587782962 | pathogenic | RCV000143923.3 |
| MYH7 | rs727503246 | likely pathogenic | RCV000168900.1 |
| MYH7 | rs727503252 | likely pathogenic | RCV000151257.1 |
| MYH7 | rs727503264 | likely pathogenic | RCV000151284.1 |
| MYH7 | rs727503269 | pathogenic | RCV000151296.1 |
| MYH7 | rs727503271 | likely pathogenic | RCV000151300.1 |
| MYH7 | rs727503278 | likely pathogenic | RCV000172887.1 |
| MYH7 | rs727504238 | likely pathogenic | RCV000172889.1 |
| MYH7 | rs727504239 | likely pathogenic | RCV000172892.1 |
| MYH7 | rs727504239 | pathogenic | RCV000154205.1 |
| MYH7 | rs727504240 | likely pathogenic | RCV000154206.1 |
| MYH7 | rs727504241 | pathogenic | RCV000154207.1 |
| MYH7 | rs727504267 | likely pathogenic | RCV000154253.1 |
| MYH7 | rs727504274 | likely pathogenic | RCV000168887.1 |
| MYH7 | rs727504274 | likely pathogenic | RCV000154273.1 |
| MYH7 | rs727504299 | likely pathogenic | RCV000201447.1 |
| MYH7 | rs727504310 | likely pathogenic | RCV000168873.1 |
| MYH7 | rs727504320 | likely pathogenic | RCV000168867.1 |
| MYH7 | rs727504336 | pathogenic | RCV000168853.1 |
| MYH7 | rs727504409 | likely pathogenic | RCV000154595.1 |
| MYH7 | rs727505132 | likely pathogenic | RCV000156591.1 |
| MYH7 | rs727505202 | likely pathogenic | RCV000201463.1 |
| MYH7 | rs730880159 | likely pathogenic | RCV000157355.1 |
| MYH7 | rs730880160 | likely pathogenic | RCV000157357.1 |
| MYH7 | rs730880876 | likely pathogenic | RCV000201501.1 |
| MYH7 | rs763538103 | likely pathogenic | RCV000201468.1 |
| MYH7 | rs767148171 | likely pathogenic | RCV000201485.1 |
| MYH7 | rs786205905 | likely pathogenic | RCV000172883.1 |
| MYL2 | rs104894363 | pathogenic | RCV000015108.25 |
| MYL2 | rs104894369 | pathogenic | RCV000157369.1 |
| MYL2 | rs104894369 | pathogenic | RCV000015111.26 |
| MYL2 | rs104894370 | pathogenic | RCV000015112.25 |
| MYL2 | rs121913658 | pathogenic | RCV000015110.25 |
| MYL2 | rs143139258 | likely pathogenic | RCV000036404.3 |
| MYL2 | rs199474809 | likely pathogenic | RCV000036384.2 |
| MYL2 | rs397516398 | likely pathogenic | RCV000036385.2 |
| MYL2 | rs397516399 | likely pathogenic | RCV000036387.2 |
| MYL2 | rs397516406 | likely pathogenic | RCV000036408.2 |
| MYL2 | rs397516407 | likely pathogenic | RCV000036409.2 |
| MYL2 | rs397516408 | likely pathogenic | RCV000036410.2 |
| MYL2 | rs587782965 | likely pathogenic | RCV000143928.1 |
| MYL2 | rs587782965 | likely pathogenic | RCV000154517.1 |
| MYL2 | rs727503296 | likely pathogenic | RCV000151360.1 |
| MYL2 | rs727503297 | likely pathogenic | RCV000151362.1 |
| MYL2 | rs786205430 | likely pathogenic | RCV000171842.1 |
| MYL3 | rs104893748 | pathogenic | RCV000015105.21 |
| MYL3 | rs104893749 | likely pathogenic | RCV000201878.1 |
| MYL3 | rs104893749 | pathogenic | RCV000015106.21 |
| MYL3 | rs104893750 | pathogenic | RCV000015107.21 |
| MYL3 | rs139794067 | pathogenic | RCV000151369.1 |
| MYL3 | rs150634297 | likely pathogenic | RCV000148716.1 |
| MYL3 | rs199474703 | likely pathogenic | RCV000036020.2 |
| MYL3 | rs730880162 | likely pathogenic | RCV000157372.1 |
| MYOZ2 | rs140126678 | pathogenic | RCV000023466.3 |
| MYOZ2 | rs199476398 | pathogenic | RCV000023465.3 |
| MYPN | rs140148105 | pathogenic | RCV000043545.2 |
| MYPN | rs71534278 | pathogenic | RCV000043542.2 |
| NEXN | rs146245480 | pathogenic | RCV000023985.2 |
| NEXN | rs387907079 | pathogenic | RCV000023984.2 |
| PLN | rs111033560 | pathogenic | RCV000022712.25 |
| PLN | rs111033560 | pathogenic | RCV000151666.1 |
| PLN | rs397516784 | pathogenic | RCV000157421.1 |
| PLN | rs794729210 | likely pathogenic | RCV000184030.1 |
| PRKAG2 | rs121908987 | pathogenic | RCV000007249.6 |
| PRKAG2 | rs121908988 | pathogenic | RCV000007250.3 |
| PRKAG2 | rs121908989 | pathogenic | RCV000007253.4 |
| PRKAG2 | rs121908991 | pathogenic | RCV000038920.2 |
| PRKAG2 | rs267606976 | pathogenic | RCV000007256.5 |
| PRKAG2 | rs267606977 | pathogenic | RCV000007257.3 |
| PRKAG2 | rs267606979 | pathogenic | RCV000007259.2 |
| PRKAG2 | rs397517264 | likely pathogenic | RCV000038916.2 |
| PRKAG2 | rs397517283 | likely pathogenic | RCV000038962.2 |
| PRKAG2 | rs587776643 | pathogenic | RCV000007251.3 |
| PRKAG2 | rs727504392 | likely pathogenic | RCV000154556.1 |
| TNNC1 | rs267607123 | pathogenic | RCV000013255.23 |
| TNNC1 | rs267607124 | pathogenic | RCV000013258.24 |
| TNNC1 | rs267607125 | pathogenic | RCV000013256.23 |
| TNNC1 | rs267607126 | pathogenic | RCV000013257.24 |
| TNNC1 | rs397514616 | pathogenic | RCV000033053.22 |
| TNNI3 | rs104894724 | pathogenic | RCV000013231.24 |
| TNNI3 | rs104894725 | pathogenic | RCV000013232.22 |
| TNNI3 | rs104894727 | likely pathogenic | RCV000148897.1 |
| TNNI3 | rs104894727 | pathogenic | RCV000013234.22 |
| TNNI3 | rs104894728 | pathogenic | RCV000013235.23 |
| TNNI3 | rs104894729 | likely pathogenic | RCV000157534.1 |
| TNNI3 | rs104894729 | likely pathogenic | RCV000154466.1 |
| TNNI3 | rs104894729 | pathogenic | RCV000154212.1 |
| TNNI3 | rs121917760 | likely pathogenic | RCV000036292.2 |
| TNNI3 | rs193922409 | likely pathogenic | RCV000030565.1 |
| TNNI3 | rs267607127 | pathogenic | RCV000013245.24 |
| TNNI3 | rs267607128 | pathogenic | RCV000013247.16 |
| TNNI3 | rs368861241 | likely pathogenic | RCV000168952.1 |
| TNNI3 | rs397516340 | likely pathogenic | RCV000036268.2 |
| TNNI3 | rs397516341 | likely pathogenic | RCV000036273.2 |
| TNNI3 | rs397516344 | likely pathogenic | RCV000036283.2 |
| TNNI3 | rs397516347 | likely pathogenic | RCV000036290.3 |
| TNNI3 | rs397516349 | likely pathogenic | RCV000036295.3 |
| TNNI3 | rs397516351 | pathogenic | RCV000036297.2 |
| TNNI3 | rs397516353 | pathogenic | RCV000036299.3 |
| TNNI3 | rs397516354 | likely pathogenic | RCV000036301.2 |
| TNNI3 | rs397516354 | likely pathogenic | RCV000036300.3 |
| TNNI3 | rs397516357 | pathogenic | RCV000036306.2 |
| TNNI3 | rs397516357 | pathogenic | RCV000157533.1 |
| TNNI3 | rs727503499 | likely pathogenic | RCV000152072.1 |
| TNNI3 | rs727503501 | likely pathogenic | RCV000157532.1 |
| TNNI3 | rs727503503 | pathogenic | RCV000152076.1 |
| TNNI3 | rs727503504 | likely pathogenic | RCV000197009.1 |
| TNNI3 | rs727504243 | likely pathogenic | RCV000168956.1 |
| TNNI3 | rs727504275 | likely pathogenic | RCV000154276.1 |
| TNNI3 | rs727504365 | likely pathogenic | RCV000154501.1 |
| TNNI3 | rs77615401 | pathogenic | RCV000013233.23 |
| TNNT2 | rs111377893 | likely pathogenic | RCV000152095.1 |
| TNNT2 | rs111377893 | pathogenic | RCV000036621.2 |
| TNNT2 | rs121964856 | pathogenic | RCV000013220.17 |
| TNNT2 | rs121964857 | pathogenic | RCV000013222.23 |
| TNNT2 | rs121964857 | likely pathogenic | RCV000148898.1 |
| TNNT2 | rs121964858 | pathogenic | RCV000013223.16 |
| TNNT2 | rs141121678 | likely pathogenic | RCV000148899.1 |
| TNNT2 | rs141121678 | likely pathogenic | RCV000168979.1 |
| TNNT2 | rs200754249 | pathogenic | RCV000149450.1 |
| TNNT2 | rs367785431 | likely pathogenic | RCV000168978.1 |
| TNNT2 | rs376923877 | likely pathogenic | RCV000154493.1 |
| TNNT2 | rs397516455 | likely pathogenic | RCV000036571.2 |
| TNNT2 | rs397516457 | likely pathogenic | RCV000036575.3 |
| TNNT2 | rs397516457 | likely pathogenic | RCV000036576.2 |
| TNNT2 | rs397516463 | likely pathogenic | RCV000036583.2 |
| TNNT2 | rs45578238 | pathogenic | RCV000168972.1 |
| TNNT2 | rs727504244 | likely pathogenic | RCV000168964.1 |
| TNNT2 | rs727504245 | likely pathogenic | RCV000168965.1 |
| TNNT2 | rs727504246 | likely pathogenic | RCV000154216.1 |
| TNNT2 | rs727504255 | likely pathogenic | RCV000154228.1 |
| TNNT2 | rs727504277 | likely pathogenic | RCV000154282.1 |
| TNNT2 | rs727504331 | likely pathogenic | RCV000154437.2 |
| TNNT2 | rs74315379 | likely pathogenic | RCV000168968.1 |
| TPM1 | rs104894502 | pathogenic | RCV000013271.24 |
| TPM1 | rs104894503 | pathogenic | RCV000013272.23 |
| TPM1 | rs104894503 | pathogenic | RCV000036340.4 |
| TPM1 | rs104894504 | pathogenic | RCV000013273.23 |
| TPM1 | rs193922410 | likely pathogenic | RCV000030569.1 |
| TPM1 | rs199476315 | likely pathogenic | RCV000036627.3 |
| TPM1 | rs199476316 | likely pathogenic | RCV000143959.1 |
| TPM1 | rs397516372 | likely pathogenic | RCV000036333.2 |
| TPM1 | rs397516390 | likely pathogenic | RCV000036361.2 |
| TPM1 | rs397516486 | likely pathogenic | RCV000036629.2 |
| TPM1 | rs727503518 | likely pathogenic | RCV000152120.1 |
| TPM1 | rs727504264 | likely pathogenic | RCV000154247.1 |
| TPM1 | rs727504290 | likely pathogenic | RCV000154303.1 |
| TPM1 | rs727504354 | likely pathogenic | RCV000154482.1 |
| TPM1 | rs730881151 | likely pathogenic | RCV000201492.1 |
| TTN | rs28933405 | pathogenic | RCV000013484.24 |
| TTN | rs368200299 | likely pathogenic | RCV000196059.1 |
| VCL | rs121917776 | pathogenic | RCV000012981.22 |
| VCL | rs71579353 | pathogenic | RCV000012982.16 |