Familial isolated hypertrophic cardiomyopathy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 23
OrphanetNr: 155
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

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: Sort by abundance 

1
(HPO:0001278) Orthostatic hypotension 20301725 IBIS 24 / 7739
2
(HPO:0100749) Chest pain 20301725 IBIS 92 / 7739
3
(HPO:0012670) Orthostatic syncope 20301725 IBIS 2 / 7739
4
(HPO:0001685) Myocardial fibrosis 20301725 IBIS 30 / 7739
5
(HPO:0001712) Left ventricular hypertrophy 20301725 IBIS 76 / 7739
6
(HPO:0011103) Abnormality of the left ventricular outflow tract 20301725 IBIS 12 / 7739
7
(HPO:0001670) Asymmetric septal hypertrophy 20301725 IBIS 19 / 7739
8
(HPO:0001645) Sudden cardiac death 20301725 IBIS 84 / 7739
9
(HPO:0004308) Ventricular arrhythmia 20301725 IBIS 46 / 7739
10
(HPO:0001633) Abnormality of the mitral valve 20301725 IBIS 69 / 7739
11
(HPO:0001653) Mitral regurgitation 20301725 IBIS 64 / 7739
12
(HPO:0000822) Hypertension 20301725 IBIS 224 / 7739
13
(HPO:0011025) Abnormality of cardiovascular system physiology 20301725 IBIS 41 / 7739
14
(HPO:0001682) Subaortic stenosis 13499764 IBIS 17 / 7739
15
(HPO:0005110) Atrial fibrillation 20301725 IBIS 71 / 7739
16
(HPO:0001962) Palpitations 20301725 IBIS 62 / 7739
17
(HPO:0001907) Thromboembolism 20301725 IBIS 15 / 7739
18
(HPO:0005957) Breathing dysregulation 20301725 IBIS 6 / 7739
19
(HPO:0002875) Exertional dyspnea 20301725 IBIS 29 / 7739
20
(OMIM) Myocyte disarray on cardiac biopsy 21831889 IBIS 6 / 7739
21
(IBIS) Impaired left ventricular relaxation 20301725 IBIS 1 / 7739
22
(MedDRA:10052337) Diastolic dysfunction 20301725 IBIS 14 / 7739
23
(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 RCV000150148.1
ACTN2 rs727502886 pathogenic RCV000169905.5
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 RCV000035479.2
MYBPC3 rs112738974 pathogenic RCV000035478.4
MYBPC3 rs112738974 pathogenic RCV000161124.1
MYBPC3 rs113358486 likely pathogenic RCV000035564.3
MYBPC3 rs113358486 pathogenic RCV000161117.1
MYBPC3 rs121909374 pathogenic RCV000035424.4
MYBPC3 rs121909374 pathogenic RCV000201915.1
MYBPC3 rs121909375 pathogenic RCV000009145.3
MYBPC3 rs121909378 pathogenic RCV000009135.4
MYBPC3 rs187830361 likely pathogenic RCV000030283.4
MYBPC3 rs187830361 likely pathogenic RCV000154174.1
MYBPC3 rs190228518 pathogenic RCV000201869.1
MYBPC3 rs193922379 likely pathogenic RCV000030284.1
MYBPC3 rs193922383 pathogenic RCV000030289.4
MYBPC3 rs193922383 pathogenic RCV000154181.1
MYBPC3 rs193922384 pathogenic RCV000030290.1
MYBPC3 rs193922386 pathogenic RCV000151149.1
MYBPC3 rs193922386 likely pathogenic RCV000030293.1
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 RCV000030282.3
MYBPC3 rs36211723 likely pathogenic RCV000161126.2
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 likely pathogenic RCV000171835.1
MYBPC3 rs371401403 pathogenic RCV000023054.4
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 likely pathogenic RCV000035512.3
MYBPC3 rs376395543 pathogenic RCV000161119.1
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 pathogenic RCV000161129.1
MYBPC3 rs397515910 likely pathogenic RCV000035413.3
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 RCV000009136.4
MYBPC3 rs397515937 pathogenic RCV000157326.1
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 RCV000035487.3
MYBPC3 rs397515963 pathogenic RCV000162332.1
MYBPC3 rs397515963 pathogenic RCV000157312.1
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 RCV000154167.1
MYBPC3 rs397516005 pathogenic RCV000035563.4
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 RCV000035660.2
MYBPC3 rs397516068 likely pathogenic RCV000168751.1
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 RCV000151107.1
MYBPC3 rs727503192 pathogenic RCV000168791.1
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 RCV000168801.1
MYBPC3 rs727504288 likely pathogenic RCV000157327.1
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 RCV000015157.21
MYH7 rs121913624 pathogenic RCV000035708.2
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 likely pathogenic RCV000201494.1
MYH7 rs121913630 pathogenic RCV000035771.2
MYH7 rs121913631 pathogenic RCV000035820.2
MYH7 rs121913632 likely pathogenic RCV000035778.2
MYH7 rs121913632 pathogenic RCV000162338.2
MYH7 rs121913632 likely pathogenic RCV000168865.1
MYH7 rs121913632 likely pathogenic RCV000154255.1
MYH7 rs121913632 likely pathogenic RCV000035779.2
MYH7 rs121913633 pathogenic RCV000015155.25
MYH7 rs121913633 pathogenic RCV000036002.2
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 pathogenic RCV000035770.2
MYH7 rs121913641 likely pathogenic RCV000201464.1
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 RCV000035817.2
MYH7 rs267606908 pathogenic RCV000015185.26
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 RCV000143922.2
MYH7 rs397516155 likely pathogenic RCV000201461.1
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 likely pathogenic RCV000151255.1
MYH7 rs397516171 pathogenic RCV000035826.2
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 pathogenic RCV000154205.1
MYH7 rs727504239 likely pathogenic RCV000172892.1
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 RCV000015111.26
MYL2 rs104894369 pathogenic RCV000157369.1
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 RCV000154517.1
MYL2 rs587782965 likely pathogenic RCV000143928.1
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 RCV000151666.1
PLN rs111033560 pathogenic RCV000022712.25
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 RCV000154466.1
TNNI3 rs104894729 likely pathogenic RCV000157534.1
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 RCV000157533.1
TNNI3 rs397516357 pathogenic RCV000036306.2
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 likely pathogenic RCV000148898.1
TNNT2 rs121964857 pathogenic RCV000013222.23
TNNT2 rs121964858 pathogenic RCV000013223.16
TNNT2 rs141121678 likely pathogenic RCV000168979.1
TNNT2 rs141121678 likely pathogenic RCV000148899.1
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 RCV000036576.2
TNNT2 rs397516457 likely pathogenic RCV000036575.3
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

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