| Cardiomyopathies |
C0878544 |
TMEM43
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TNNC1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TNNI3
|
Causal
Pathogenic evidence from ClinVar
|
17587482 |
ClinVar |
|
TNNT2
|
Causal
Pathogenic evidence from ClinVar
|
14745153, 17587482 |
ClinVar |
|
TPM1
|
Causal
Pathogenic evidence from ClinVar
|
27177193, 27532257, 28359939, 29024827, 29517769 |
ClinVar |
|
TTN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TTR
|
Causal
Pathogenic evidence from ClinVar
|
30120737, 31118583 |
ClinVar |
|
VCL
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Cardiomyopathy, Dilated |
C0007193 |
TMEM43
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TNNC1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TNNI3
|
Causal
Pathogenic evidence from ClinVar
|
15070570, 22464770, 24503780, 27532257 |
ClinVar |
|
TNNT2
|
Causal
Pathogenic evidence from ClinVar
|
11106718, 11684629, 11773635, 11862580, 12923187, 14654368, 15464434, 15542288, 15623536, 15769782, 15923195, 17556660, 17932326, 18506004, 18612386, 19253838, 19324435, 19412328, 19477965, 20031601, 20079745, 20978592, 21551322, 22464770, 22517884, 22675533, 23074333, 23383212, 23539503, 24119082, 24205113, 24367593, 24503780, 24992688, 27153395, 28669108, 29367539, 31333075, 31568572 |
ClinVar |
|
TPM1
|
Causal
Pathogenic evidence from ClinVar
|
11106625, 20117437, 20215591, 20530761, 21310275, 21483645 |
ClinVar |
|
TSFM
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TTN
|
Causal
Pathogenic evidence from ClinVar
|
10051295, 11788824, 11846417, 12145747, 15802564, 16733766, 17444505, 18948003, 22335739, 23418287, 24119082, 24503780, 25163546, 25448463, 25589632, 26315439, 26735901, 26899768, 27869827, 28716623, 28941705, 30536954 |
ClinVar |
|
VCL
|
Causal
Pathogenic evidence from ClinVar
|
16949038, 17785437 |
ClinVar |
| Cardiomyopathy, Dilated, 1z |
C2678475 |
TNNC1
|
Causal
Pathogenic evidence from ClinVar
|
15542288, 20186049, 27532257, 30681346 |
ClinVar |
| Cardiomyopathy, Familial Hypertrophic, 13 |
C2750472 |
TNNC1
|
Causal
Pathogenic evidence from ClinVar
|
11385718, 16302972, 18572189, 19439414, 20186049, 27532257, 30681346 |
ClinVar |
| Familial dilated cardiomyopathy |
C0340427 |
TNNC1
|
Causal
Pathogenic evidence from ClinVar
|
15542288 |
ClinVar |
|
TNNI3
|
Causal
Pathogenic evidence from ClinVar
|
15070570, 19590045 |
ClinVar |
|
TNNT2
|
Causal
Pathogenic evidence from ClinVar
|
11684629, 15542288 |
ClinVar |
|
TPM1
|
Causal
Pathogenic evidence from ClinVar
|
11273725 |
ClinVar |
|
TTN
|
Causal
Pathogenic evidence from ClinVar
|
11788824 |
ClinVar |
|
VCL
|
Causal
Pathogenic evidence from ClinVar
|
11815424 |
ClinVar |
| Cardiomyopathies, Primary |
C0033141 |
TNNI3
|
Causal
Pathogenic evidence from ClinVar
|
17587482 |
ClinVar |
|
TNNT2
|
Causal
Pathogenic evidence from ClinVar
|
14745153, 17587482 |
ClinVar |
| Cardiomyopathy, Dilated, 1FF |
C2750091 |
TNNI3
|
Causal
Pathogenic evidence from ClinVar
|
12860912, 15607392, 15698845, 19590045, 20186049, 21511876, 21533915, 21846512, 22876777, 30681346 |
ClinVar |
| CARDIOMYOPATHY, DILATED, 2A (disorder) |
C2678474 |
TNNI3
|
Causal
Pathogenic evidence from ClinVar
|
12860912, 15607392, 15698845, 19590045, 20186049, 21511876, 21533915, 21846512, 22876777, 30681346 |
ClinVar |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 |
C1860752 |
TNNI3
|
Causal
Pathogenic evidence from ClinVar
|
9241277, 10806205, 11735257, 11815426, 12707239, 12860912, 12974739, 15607392, 15698845, 16199542, 20186049, 21511876, 21533915, 21799269, 22429680, 22876777, 23270746, 24113344, 30681346 |
ClinVar |
| Cardiomyopathy, Familial Idiopathic |
C1449563 |
TNNI3
|
Causal
Pathogenic evidence from ClinVar
|
15070570 |
ClinVar |
|
TNNT2
|
Causal
Pathogenic evidence from ClinVar
|
17556660, 19477965 |
ClinVar |
|
TTN
|
Causal
Pathogenic evidence from ClinVar
|
11846417, 17444505, 27869827 |
ClinVar |
| CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) |
C1861861 |
TNNI3
|
Causal
Pathogenic evidence from ClinVar
|
12531876, 12860912, 15607392, 15698845, 20186049, 21511876, 21533915, 22876777, 30681346 |
ClinVar |
| Cardiomyopathy, Hypertrophic, Familial |
C0949658 |
TNNI3
|
Causal
Pathogenic evidence from ClinVar
|
9241277, 10806205, 11735257, 11801593, 11815426, 12531876, 12707239, 12860912, 15607392, 15698845, 15992656, 16199542, 16335287, 16352453, 16531415, 17027633, 17463320, 18402758, 18403758, 18408133, 18423659, 19289050, 19645627, 19651143, 20031618, 20035081, 20161772, 20624503, 20641121, 21239446, 21310275, 21533915, 21777381, 21799269, 21839045, 21896538, 22112859, 22429680, 22675533, 22765922, 22876777, 23283745, 23540544, 23610579, 24111713, 24704860, 25086479, 25132132, 25239116, 25524337, 25611685, 25940119, 26440512, 26506446, 26914223, 27532257, 27557662, 28356264, 28498465, 28790153 |
ClinVar |
|
TNNT2
|
Causal
Pathogenic evidence from ClinVar
|
8951566, 9060892, 9241277, 10521296, 11346248, 11560853, 12600890, 12860912 |
ClinVar |
|
TPM1
|
Causal
Pathogenic evidence from ClinVar
|
7729014, 7898523, 8205619, 8523464, 9060904, 9241277, 9245729, 9822100, 10400910, 11606294, 12860912, 14734051, 18403758, 18409188, 18533079, 20031602, 20117437, 20965760, 21310275, 21551322, 21835320, 22112859, 22462493, 23204897, 23539503, 23700264, 23771913, 24510615, 25242052, 25524337, 25548289, 25607779, 26960954, 27177193, 27532257, 27600940, 27639548, 28600229, 28603979 |
ClinVar |
| Familial isolated restrictive cardiomyopathy |
75249 |
TNNI3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TNNT2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CARDIOMYOPATHY, DILATED, 1D (disorder) |
C1832243 |
TNNT2
|
Causal
Pathogenic evidence from ClinVar
|
2003160, 7898523, 8205619, 8951566, 9060892, 9140840, 9201030, 9788962, 10085122, 10449439, 10525521, 10617660, 10731693, 10978365, 11034944, 11060291, 11106718, 11113119, 11158969, 11606294, 11684629, 11773635, 12186860, 12707239, 12860912, 12923187, 12974739, 14636924, 14654368, 14722098, 15542288, 15563892, 15623536, 15769782, 15923195, 15958377, 16326803, 17456375, 17932326, 18349139, 18403758, 18506004, 18606313, 18651846, 19087273, 19324435, 19487599, 20031601, 20057144, 20079745, 20159828, 20186049, 20439259, 20624503, 20978592, 21310275, 21551322, 21683708, 21846512, 22144547, 22260945, 22334656, 22517884, 22579624, 22675533, 22857948, 23233322, 23283745, 23349452, 23383212, 23396983, 23494605, 23539503, 23663841, 24033266, 24119082, 24205113, 24367593, 24480310, 24691700, 24792744, 24793961, 24992688, 25031304, 25524337, 26498512, 26507537, 26656454, 26914223, 27036851, 27532257, 28408708, 30681346 |
ClinVar |
| Cardiomyopathy, Familial Hypertrophic, 1 (disorder) |
C3495498 |
TNNT2
|
Causal
Pathogenic evidence from ClinVar
|
9154300, 12860912, 12974739, 15958377, 20031601, 20057144, 23283745, 25611685 |
ClinVar |
| Cardiomyopathy, Familial Hypertrophic, 2 |
C1861864 |
TNNT2
|
Causal
Pathogenic evidence from ClinVar
|
2003160, 7898523, 8205619, 8951566, 8989109, 9060892, 9140840, 9201030, 9482583, 9788962, 10085122, 10449439, 10525521, 10617660, 10731693, 10978365, 11034944, 11060291, 11106718, 11113119, 11158969, 11606294, 11684629, 11773635, 12186860, 12707239, 12860912, 12923187, 12974739, 14636924, 14654368, 14722098, 15542288, 15563892, 15623536, 15769782, 15923195, 15958377, 16199542, 16326803, 17456375, 17932326, 18349139, 18403758, 18506004, 18606313, 18651846, 19087273, 19324435, 19487599, 20031601, 20057144, 20079745, 20159828, 20186049, 20439259, 20624503, 20978592, 21310275, 21551322, 21683708, 21846512, 22144547, 22260945, 22334656, 22517884, 22579624, 22675533, 22857948, 23233322, 23283745, 23349452, 23383212, 23396983, 23494605, 23539503, 23663841, 24033266, 24119082, 24205113, 24367593, 24480310, 24691700, 24792744, 24793961, 24992688, 25031304, 25524337, 26498512, 26507537, 26656454, 26914223, 27036851, 27532257, 28408708, 30681346 |
ClinVar |
| CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) |
C2676271 |
TNNT2
|
Causal
Pathogenic evidence from ClinVar
|
2003160, 7898523, 8205619, 8951566, 9060892, 9140840, 9201030, 9788962, 10085122, 10449439, 10525521, 10617660, 10731693, 10978365, 11034944, 11060291, 11106718, 11113119, 11158969, 11606294, 11684629, 11773635, 12186860, 12707239, 12860912, 12923187, 12974739, 14636924, 14654368, 14722098, 15542288, 15563892, 15623536, 15769782, 15923195, 15958377, 16326803, 17456375, 17932326, 18349139, 18403758, 18506004, 18606313, 18651846, 19087273, 19324435, 19487599, 20031601, 20057144, 20079745, 20159828, 20186049, 20439259, 20624503, 20978592, 21310275, 21551322, 21683708, 21846512, 22144547, 22260945, 22334656, 22517884, 22579624, 22675533, 22857948, 23233322, 23283745, 23349452, 23383212, 23396983, 23494605, 23539503, 23663841, 24033266, 24119082, 24205113, 24367593, 24480310, 24691700, 24792744, 24793961, 24992688, 25031304, 25524337, 26498512, 26507537, 26656454, 26914223, 27036851, 27532257, 28408708, 30681346 |
ClinVar |
| Cardiomyopathy, Dilated, 1y |
C2678476 |
TPM1
|
Causal
Pathogenic evidence from ClinVar
|
11273725, 20117437, 20186049, 21310275, 21551322, 23539503, 25241052, 25525159, 25548289, 27532257, 30681346 |
ClinVar |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder) |
C1861863 |
TPM1
|
Causal
Pathogenic evidence from ClinVar
|
7898523, 8205619, 8523464, 9822100, 12860912, 12974739, 16365313, 18409188, 18414213, 20031602, 20117437, 20186049, 21310275, 21551322, 23170982, 23396983, 23539503, 23771913, 24033266, 24510615, 25241052, 25524337, 25525159, 25548289, 25611685, 26960954, 27376658, 27532257, 30681346 |
ClinVar |
| Cardiomyopathy, Dilated, 1g |
C1858763 |
TTN
|
Causal
Pathogenic evidence from ClinVar
|
11788824, 11846417, 12145747, 15728284, 16465475, 17444505, 18948003, 20186049, 21520333, 22335739, 22526018, 23418287, 23486992, 23606733, 23975875, 24105469, 24119082, 24395473, 24444549, 24636144, 24980681, 25163546, 25214167, 25448463, 25500009, 25589632, 25739468, 26084686, 26315439, 26701604, 26735901, 26899768, 27353043, 27532257, 27813223, 27868403, 27869827, 28045975, 28416588, 28611029, 28877744, 29057560, 31251381 |
ClinVar |
| CARDIOMYOPATHY, DILATED, 1S |
C1834481 |
TTN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 |
C1861065 |
TTN
|
Causal
Pathogenic evidence from ClinVar
|
10462489, 20186049, 22335739, 27869827, 29575618 |
ClinVar |
| Left ventricular noncompaction cardiomyopathy |
C4021133 |
TTN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Cardiomyopathy, Dilated, 1w |
C1969639 |
VCL
|
Causal
Pathogenic evidence from ClinVar
|
11815424, 16236538, 20186049, 27532257, 28369730 |
ClinVar |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 |
C2750459 |
VCL
|
Causal
Pathogenic evidence from ClinVar
|
16712796, 20186049, 27532257, 28369730 |
ClinVar |