Hypertrophic cardiomyopathy

Disease Term Disease ID Gene Symbol Classification References Source
Hypertrophic Cardiomyopathy C0007194 ACTC1 Causal Pathogenic evidence from ClinVar 10330430, 10966831, 16267253, 16611632, 16675844, 17611253, 18506004, 19799913, 21622575, 21839045, 22563033, 22643837, 23604709, 24309898, 24736382, 25239116, 27532257, 30681346 ClinVar
ALPK3 Causal Pathogenic evidence from ClinVar 11418590, 21441111, 26846950, 27106955 ClinVar
BRAF Causal Pathogenic evidence from ClinVar 16439621, 16474404 ClinVar
CACNA1C Causal Pathogenic evidence from ClinVar 26253506 ClinVar
GLA Causal Pathogenic evidence from ClinVar 7504405, 7575533, 7911050, 8395937, 10666480, 11828341, 11914245, 15702404, 17555407, 19621417, 19823873, 20031620, 20821055, 21598360, 21972175, 22437327, 23109060, 23568732, 27532257, 27554049, 27595546, 27931613, 28082092, 28377241, 28430823, 29018006 ClinVar
LAMP2 Causal Pathogenic evidence from ClinVar 15673802, 16217705, 18555174, 19318653, 19373884, 20445193, 21896538, 22695892 ClinVar
LMNA Causal Pathogenic evidence from ClinVar - ClinVar
MRPL44 Causal Pathogenic evidence from ClinVar - ClinVar
MYBPC3 Causal Pathogenic evidence from ClinVar 2943217, 7493025, 7493026, 9048664, 9218526, 9241277, 9503187, 9541100, 9541104, 9562578, 9631872, 10424815, 10610770, 10736283, 11499718, 11499719, 11815426, 11835941, 11847170, 12110947, 12202917, 12386147, 12601548, 12628722, 12707239, 12787675, 12788380, 12818575, 12951062, 12974739, 14563344, 14613868, 15114369, 15519027, 15563892, 15671604, 15769446, 16061003, 16181148, 16199542, 16335287, 16566405, 16679492, 16715312, 16858239, 17081393, 17394878, 17908752, 17937428, 18258667, 18273486, 18374358, 18403758, 18409188, 18467358, 18533079, 18713777, 18761664, 18803133, 18809796, 18957093, 19150014, 19151713, 19273718, 19356534, 19574547, 19590044, 19659763, 19808356, 19858127, 20019025, 20031602, 20031618, 20031619, 20128375, 20159828, 20173211, 20201939, 20215591, 20359594, 20378854, 20414521, 20433692, 20439259, 20474083, 20505798, 20542340, 20624503, 20738943, 20800588, 20864638, 21088121, 21165360, 21239446, 21302287, 21310275, 21415409, 21425739, 21488307, 21551322, 21750094, 21817903, 21835286, 21835 ClinVar
MYH6 Causal Pathogenic evidence from ClinVar 6234108, 10388558, 11815426, 15998695, 24309898, 27483260, 29741611 ClinVar
MYH7 Causal Pathogenic evidence from ClinVar 1430197, 1552912, 1634614, 1638703, 1944483, 1975517, 2062450, 2144212, 7581410, 7662452, 7731997, 7789380, 7796500, 7848441, 7874131, 7883988, 8250038, 8254035, 8268932, 8281650, 8282798, 8335820, 8435239, 8483915, 8514894, 8533830, 8614836, 8655135, 8788376, 9001794, 9058851, 9062359, 9140824, 9140839, 9154300, 9172070, 9544842, 9822100, 9826622, 9829907, 9874056, 10024460, 10065021, 10086390, 10328076, 10521296, 10567705, 10662815, 10725281, 10750581, 10764406, 10862102, 10882745, 10957787, 11113006, 11133230, 11186938, 11196015, 11227787, 11377367, 11424919, 11433818, 11498078, 11861413, 11904418, 11968089, 12081993, 12084606, 12473556, 12566107, 12707239, 12818575, 12820698, 12881443, 12951062, 12953063, 12974739, 12975303, 12975413, 14520662, 15000344, 15001446, 15008060, 15322983, 15358028, 15483641, 15519027, 15528230, 15550524, 15556047, 15563892, 15699387, 15856146, 15858117, 16199542, 16267253, 16335287, 16352453, 16504640, 16630449, 16630450, 16650083, 16715312, 16858239, 16918501, 16938236, 17097 ClinVar
MYL2 Causal Pathogenic evidence from ClinVar 8673105, 9527842, 9535554, 9724616, 10948063, 11102452, 12404107, 12668451, 12818575, 14594949, 16076902, 16751284, 17606808, 18533079, 18929571, 20855589, 21723297, 21835320, 21896538, 23343568, 23727233, 25611685, 26187847, 26497160, 26914223, 27532257 ClinVar
MYL3 Causal Pathogenic evidence from ClinVar 8417110, 8673105, 9927691, 11174330, 12021217, 12707239, 16267253, 16675844, 18403758, 18409188, 19035361, 20031618, 21239446, 21262909, 21823217, 22131351, 23283745, 23426552, 25086479, 25342278, 25611685, 25910212, 26443374, 26779504, 27483260, 27532257, 28658286 ClinVar
MYOZ2 Causal Pathogenic evidence from ClinVar 11114196, 17347475, 18591919, 22987565 ClinVar
PLN Causal Pathogenic evidence from ClinVar 12639993, 16235537, 17655857, 21167350, 21332051, 23861362 ClinVar
PRKAG2 Causal Pathogenic evidence from ClinVar 7657794, 11112354, 11371514, 11407343, 11827995, 12782567, 14519435, 14722619, 15611370, 15673802, 15877279, 16339829, 16487706, 16716659, 16836667, 17483151, 17597581, 17711718, 18403758, 19787389, 19808419, 20005292, 20031621, 20600102, 23741347, 23778007, 23829931, 25092788, 25611685, 26729852, 27532257, 28009297 ClinVar
PTPN11 Causal Pathogenic evidence from ClinVar 12058348, 14961557, 15121796, 15520399, 15712196, 16358218, 16377799, 16638574, 17935252, 18372317, 18849586, 19133693, 19825837, 20308328, 20493809, 20535210, 20883402, 21365175, 21910245, 22190897, 22411627, 22555271, 22585553, 22681964, 23317994, 23457302, 23813970, 24037001, 24451042, 24767283, 24775816, 24935154, 25544017, 25884655, 25917897, 26337637, 27238887, 27484170, 28681392 ClinVar
RAF1 Causal Pathogenic evidence from ClinVar 17603482, 17603483 ClinVar
TCAP Causal Pathogenic evidence from ClinVar 9350988, 12507422, 15582318, 16352453 ClinVar
TMEM43 Causal Pathogenic evidence from ClinVar - ClinVar
TNNC1 Causal Pathogenic evidence from ClinVar 11385718, 16302972, 18572189, 19439414, 20459070, 20566645, 20925115, 21056975, 21262074, 22489623, 22815480, 23425245, 24260207, 26304555, 26341255, 26779504, 26976709, 27604170, 28473771, 28533433 ClinVar
TNNI3 Causal Pathogenic evidence from ClinVar 3144325, 9241277, 10731705, 10806205, 11055985, 11724573, 11735257, 11801593, 11815426, 11853553, 12044157, 12242271, 12531876, 12707239, 12746413, 12860912, 14575308, 15070570, 15607392, 15698845, 15718266, 15867176, 15961398, 15992656, 16020591, 16199542, 16274223, 16288990, 16335287, 16352453, 16531415, 16950368, 17027633, 17463320, 17599605, 17932326, 18269819, 18403758, 18408133, 18409188, 18430738, 18548271, 18801787, 19035361, 19289050, 19449150, 19645627, 19651143, 19715700, 20031618, 20161772, 20569525, 20617149, 20624503, 20641121, 20800588, 21239446, 21310275, 21511876, 21533915, 21799269, 21896538, 22086914, 22301726, 22429680, 22675533, 22876777, 23270746, 23540544, 23906401, 23967088, 24113344, 24510615, 25524337, 25611685, 25940119, 26169204, 26914223, 27532257, 27557662, 27600940, 28790153 ClinVar
TNNT2 Causal Pathogenic evidence from ClinVar 1934353, 7898523, 8205619, 8951566, 8958207, 9060892, 9201030, 9637714, 10085122, 10330428, 10405326, 10449439, 10521296, 10525521, 10529204, 10617660, 10731693, 11034944, 11060294, 11113119, 11158969, 11346248, 11560853, 11606294, 11684629, 11968089, 12084606, 12186860, 12473556, 12707239, 12746413, 12860912, 12923187, 14636924, 14640471, 14654368, 14722098, 15563892, 15568820, 15623536, 15631686, 15769782, 15923195, 16115294, 16326803, 16538283, 17456375, 17612745, 17932326, 18029407, 18258667, 18403758, 18506004, 18533079, 18651846, 18809796, 19087273, 19150014, 19253838, 19487599, 19880069, 19914256, 19996403, 20031602, 20414521, 20439259, 20624503, 21185001, 21245263, 22321274, 22334656, 22579624, 22675533, 22857948, 23074333, 23233322, 23283745, 23396983, 23494605, 23539503, 24367593, 24691700, 25524337, 26507537, 26914223, 27532257, 27721798, 28073646, 28420666, 28735292, 28973951 ClinVar
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy 155 ACTC1 Causal Pathogenic evidence from ClinVar - ClinVar
CSRP3 Causal Pathogenic evidence from ClinVar - ClinVar
FLNC Causal Pathogenic evidence from ClinVar - ClinVar
JPH2 Causal Pathogenic evidence from ClinVar - ClinVar
MYBPC3 Causal Pathogenic evidence from ClinVar - ClinVar
MYH6 Causal Pathogenic evidence from ClinVar - ClinVar
MYH7 Causal Pathogenic evidence from ClinVar - ClinVar
MYL2 Causal Pathogenic evidence from ClinVar - ClinVar
MYL3 Causal Pathogenic evidence from ClinVar - ClinVar
MYOZ2 Causal Pathogenic evidence from ClinVar - ClinVar
NEXN Causal Pathogenic evidence from ClinVar - ClinVar
PLN Causal Pathogenic evidence from ClinVar - ClinVar
PRKAG2 Causal Pathogenic evidence from ClinVar - ClinVar
TCAP Causal Pathogenic evidence from ClinVar - ClinVar
TNNC1 Causal Pathogenic evidence from ClinVar - ClinVar
TNNI3 Causal Pathogenic evidence from ClinVar - ClinVar
Familial Hypertrophic Cardiomyopathy Type 4 C1861862 BRAF Causal Pathogenic evidence from ClinVar - ClinVar
MYBPC3 Causal Pathogenic evidence from ClinVar 2073894, 7493025, 7493026, 7744002, 8655135, 9048664, 9440712, 9541104, 9541115, 9562578, 9631872, 10424815, 10610770, 11230104, 11499718, 11499719, 11815426, 11909824, 12117842, 12379228, 12601548, 12628722, 12707239, 12818575, 12881443, 12951062, 12974739, 14563344, 14613868, 15114369, 15249187, 15358028, 15519027, 15563892, 15769446, 15856146, 16004897, 16199542, 16335287, 16566405, 16831826, 16858239, 17560888, 17908752, 18337725, 18374358, 18403758, 18409188, 18414213, 18533079, 18929575, 18957093, 19150014, 19273718, 19356534, 19574547, 19808356, 19858127, 20031602, 20031618, 20045868, 20159828, 20173211, 20186049, 20359594, 20378854, 20433692, 20474083, 20505798, 20530761, 20624503, 20738943, 21185001, 21239446, 21302287, 21511876, 21835320, 21839045, 22057632, 22115648, 22267749, 22765922, 22907696, 23054336, 23283745, 23299917, 23396983, 23711808, 23782526, 23840593, 23861362, 23980194, 24033266, 24093860, 24464755, 24510615, 24793961, 25031304, 25210889, 25335496, 25342278, 25524337, 25611685, 25637 ClinVar
NCF1 Causal Pathogenic evidence from ClinVar - ClinVar
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 352563 MRPL44 Causal Pathogenic evidence from ClinVar - ClinVar
Hypertrophic obstructive cardiomyopathy C4551472 MYBPC3 Causal Pathogenic evidence from ClinVar 22076249, 23816408, 25566086, 27994558 ClinVar
MYH6 Causal Pathogenic evidence from ClinVar 15998695, 29741611 ClinVar
MYH7 Causal Pathogenic evidence from ClinVar 29686627, 29741611 ClinVar
MYL2 Causal Pathogenic evidence from ClinVar 9527842 ClinVar
RAF1 Causal Pathogenic evidence from ClinVar 17603482, 17603483 ClinVar
TNNT2 Causal Pathogenic evidence from ClinVar 19087273 ClinVar
Hypertrophic cardiomyopathy without obstruction C0340425 PTPN11 Causal Pathogenic evidence from ClinVar 11704759, 11992261, 12634870, 15834506, 16166557, 17020470, 17641779 ClinVar