HCM
MCID: FML032
MIFTS: 65

Familial Hypertrophic Cardiomyopathy (HCM) malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories
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Summaries for Familial Hypertrophic Cardiomyopathy

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21Genetics Home Reference, 47OMIM, 33MalaCards
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Fully expand this MalaCard
Genetics Home Reference:21 Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Cardiac hypertrophy often begins in adolescence or young adulthood, although it can develop at any time throughout life.

MalaCards: Familial Hypertrophic Cardiomyopathy, also known as idiopathic hypertrophic subaortic stenosis, is related to hypertrophic cardiomyopathy and myocarditis. An important gene associated with Familial Hypertrophic Cardiomyopathy is CAV3 (caveolin 3), and among its related pathways are RhoGDI Pathway and Actin Nucleation by ARP-WASP Complex. The compounds ryanodine and polyacrylamide have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and skin, and related mouse phenotypes are homeostasis/metabolism and muscle.

Description from OMIM:47 613251, 613255, 613873, 613874, 115196 613243, 612124, 192600, 613838, 613876, 613690, 612098, 608758, 115197, 600858, 613875, 115195, 608751, 613765 more

Aliases & Classifications for Familial Hypertrophic Cardiomyopathy

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8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 62UMLS, 20GeneTests, 47OMIM, 35MeSH, 40NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases


Aliases & Descriptions:

familial hypertrophic cardiomyopathy 8 43 21 10
idiopathic hypertrophic subaortic stenosis 43 21 62
cardiomyopathy familial hypertrophic 43 20
hereditary ventricular hypertrophy 43 21
asymmetric septal hypertrophy 43 62
cardiomyopathy, hypertrophic, familial 62
familial asymmetric septal hypertrophy 21
cardiomyopathy, familial hypertrophic 47
hcm 21


Related Diseases for Familial Hypertrophic Cardiomyopathy

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17GeneCards, 18GeneDecks
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Diseases in the Familial Hypertrophic Cardiomyopathy family:

Hypertrophic Cardiomyopathy Cav3-Related Hypertrophic Cardiomyopathy
Myh7-Related Familial Hypertrophic Cardiomyopathy Tnnt2-Related Familial Hypertrophic Cardiomyopathy
Tpm1-Related Familial Hypertrophic Cardiomyopathy Mybpc3-Related Familial Hypertrophic Cardiomyopathy
Tnni3-Related Familial Hypertrophic Cardiomyopathy Myl3-Related Familial Hypertrophic Cardiomyopathy
Myl2-Related Familial Hypertrophic Cardiomyopathy Ttn-Related Familial Hypertrophic Cardiomyopathy
Actc1-Related Familial Hypertrophic Cardiomyopathy Myh6-Related Familial Hypertrophic Cardiomyopathy
Tcap-Related Familial Hypertrophic Cardiomyopathy Csrp3-Related Familial Hypertrophic Cardiomyopathy
Tnnc1-Related Familial Hypertrophic Cardiomyopathy Actn2-Related Familial Hypertrophic Cardiomyopathy
Myoz2-Related Familial Hypertrophic Cardiomyopathy Nexn-Related Familial Hypertrophic Cardiomyopathy
Pln-Related Familial Hypertrophic Cardiomyopathy Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Familial Hypertrophic, 2 Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 13 Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 16 Cardiomyopathy, Familial Hypertrophic, 18
Cardiomyopathy, Familial Hypertrophic, 21 Cardiomyopathy, Familial Hypertrophic 6
Cardiomyopathy, Familial Hypertrophic, 15 Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Familial Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic, 10
Cardiomyopathy, Familial Hypertrophic, 14 Cardiomyopathy, Familial Hypertrophic, 1
Cardiomyopathy, Familial Hypertrophic, 11 Cardiomyopathy, Familial Hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 19 Cardiomyopathy, Familial Hypertrophic, 7
Cardiomyopathy, Familial Hypertrophic 17 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

Diseases related to Familial Hypertrophic Cardiomyopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 104)
idRelated DiseaseScoreTop Affiliating Genes
1hypertrophic cardiomyopathy32.2MYBPC3, MYH7
2myocarditis30.9TNNT2, TNNI3, MYH6
3myocardial infarction30.6MYL3, TNNI3, TNNT2
4diastolic heart failure30.3TTN
5long qt syndrome30.0CAV3, MYH7
6dilated cardiomyopathy29.9TNNT2, TNNI3, TPM1, MYBPC3, MYH7, MYH6
7noonan syndrome29.8TTN, TNNT2, MYBPC3, MYH7, MYH6, TCAP
8angiodysplasia10.5
9discrete subaortic stenosis10.5
10acute myocarditis10.5
11hypertension10.4
12left ventricular outflow tract obstruction10.4
13dextrocardia10.3
14tetralogy of fallot10.3
15subacute bacterial endocarditis10.3
16dumping syndrome10.3
17endocarditis10.3
18subvalvular aortic stenosis10.3
19wolff-parkinson-white syndrome10.3
20familial hypertrophic cardiomyopathy with wolff-parkinson-white syndrome, prkag2-related10.3
21myh7-related familial hypertrophic cardiomyopathy10.3
22tnnt2-related familial hypertrophic cardiomyopathy10.3
23tpm1-related familial hypertrophic cardiomyopathy10.3
24mybpc3-related familial hypertrophic cardiomyopathy10.3
25tnni3-related familial hypertrophic cardiomyopathy10.3
26myl3-related familial hypertrophic cardiomyopathy10.3
27myl2-related familial hypertrophic cardiomyopathy10.3
28ttn-related familial hypertrophic cardiomyopathy10.3
29actc1-related familial hypertrophic cardiomyopathy10.3
30myh6-related familial hypertrophic cardiomyopathy10.3
31tcap-related familial hypertrophic cardiomyopathy10.3
32csrp3-related familial hypertrophic cardiomyopathy10.3
33tnnc1-related familial hypertrophic cardiomyopathy10.3
34actn2-related familial hypertrophic cardiomyopathy10.3
35myoz2-related familial hypertrophic cardiomyopathy10.3
36nexn-related familial hypertrophic cardiomyopathy10.3
37pln-related familial hypertrophic cardiomyopathy10.3
38cardiomyopathy, familial hypertrophic, 2010.3
39cardiomyopathy, familial hypertrophic, 210.3
40cardiomyopathy, familial hypertrophic, 910.3
41cardiomyopathy, familial hypertrophic, 1310.3
42cardiomyopathy, familial hypertrophic, 810.3
43cardiomyopathy, familial hypertrophic, 1610.3
44cardiomyopathy, familial hypertrophic, 1810.3
45cardiomyopathy, familial hypertrophic, 2110.3
46cardiomyopathy, familial hypertrophic 610.3
47cardiomyopathy, familial hypertrophic, 1510.3
48cardiomyopathy, familial hypertrophic, 1210.3
49cardiomyopathy, familial hypertrophic, 410.3
50cardiomyopathy, familial hypertrophic, 1010.3

Graphical network of the top 20 diseases related to Familial Hypertrophic Cardiomyopathy:



Diseases related to familial hypertrophic cardiomyopathy

Symptoms for Familial Hypertrophic Cardiomyopathy

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47OMIM
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Symptoms by clinical synopsis from OMIM:

192600

Clinical features from OMIM:

613251, 613255, 613873, 613874, 115196, 613243, 612124, 192600, 613838, 613876 613690, 612098, 608758, 115197, 600858, 613875, 115195, 608751, 613765 more

Drugs & Therapeutics for Familial Hypertrophic Cardiomyopathy

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Familial Hypertrophic Cardiomyopathy

Search NIH Clinical Center for Familial Hypertrophic Cardiomyopathy

Genetic Tests for Familial Hypertrophic Cardiomyopathy

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20GeneTests
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Genetic tests related to Familial Hypertrophic Cardiomyopathy:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy20 TTN

Anatomical Context for Familial Hypertrophic Cardiomyopathy

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33MalaCards
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MalaCards organs/tissues related to Familial Hypertrophic Cardiomyopathy:

33
Heart, Testes, Skin, Brain, Smooth muscle, Skeletal muscle

Animal Models for Familial Hypertrophic Cardiomyopathy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Familial Hypertrophic Cardiomyopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.0CAV3, TNNT2, TTN, MYBPC3, MYH6, SLC25A4
2MP:00053696.4TNNT2, SLC25A4, CAV3, PLN, ACTC1, TCAP
3MP:00053856.1SLC25A4, TNNI3, TNNT2, TPM1, MYBPC3, MYH6

Publications for Familial Hypertrophic Cardiomyopathy

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52PubMed
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Articles related to Familial Hypertrophic Cardiomyopathy:

(show top 50)    (show all 285)
idTitleAuthorsYear
1
Fast diastolic swinging motion of the mitral valve as a clinical marker of familial hypertrophic cardiomyopathy in genetically affected young children without left ventricular hypertrophy: a new role for noninvasive imaging? (23557229)
2013
2
Familial hypertrophic cardiomyopathy: is the Frank-Starling law kaput? (23704214)
2013
3
Reversible heart failure with left ventricular dysfunction in a postpartum woman with familial hypertrophic cardiomyopathy. (23841251)
2013
4
Discrete effects of A57G-myosin essential light chain mutation associated with familial hypertrophic cardiomyopathy. (23748425)
2013
5
Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach. (22334656)
2012
6
The development of familial hypertrophic cardiomyopathy: from mutation to bedside. (21158848)
2011
7
Abnormal heart rate regulation in murine hearts with familial hypertrophic cardiomyopathy-related cardiac troponin T mutations. (21131475)
2011
8
Facilitated cross-bridge interactions with thin filaments by familial hypertrophic cardiomyopathy mutations in I+-tropomyosin. (22187526)
2011
9
A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. (19645038)
2009
10
Severe heart failure and early mortality in a double-mutation mouse model of familial hypertrophic cardiomyopathy. (18362229)
2008
11
Rescue of tropomyosin-induced familial hypertrophic cardiomyopathy mice by transgenesis. (17416600)
2007
12
Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations. (16267621)
2006
13
Diltiazem treatment prevents diastolic heart failure in mice with familial hypertrophic cardiomyopathy. (16214409)
2006
14
Molecular insights from a novel cardiac troponin I mouse model of familial hypertrophic cardiomyopathy. (16950368)
2006
15
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. (14672715)
2004
16
Familial hypertrophic cardiomyopathy: clinical features, molecular genetics and molecular genetic testing. (14711353)
2004
17
Altered signaling surrounding the C-lobe of cardiac troponin C in myofilaments containing an alpha-tropomyosin mutation linked to familial hypertrophic cardiomyopathy. (14519438)
2003
18
Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy. (11857753)
2002
19
Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy. (12117842)
2002
20
Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. (11371514)
2001
21
Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy. (11303515)
2001
22
Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. (10764406)
2000
23
Phenotypic variation of familial hypertrophic cardiomyopathy caused by the Phe(110)-->Ile mutation in cardiac troponin T. (10965086)
2000
24
Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy. (10882745)
2000
25
Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy. (10085122)
1999
26
Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain. (10329202)
1999
27
Screening for familial hypertrophic cardiomyopathy using brain natriuretic peptide. (10365292)
1999
28
Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction. (10400910)
1999
29
Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene. (10563488)
1999
30
Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants. (10529204)
1999
31
Familial hypertrophic cardiomyopathy. (10386271)
1999
32
Familial hypertrophic cardiomyopathy. Genetic characterization. (10531696)
1999
33
Familial hypertrophic cardiomyopathy: a paradigm of the cardiac hypertrophic response to injury. (9800880)
1998
34
Genetic heterogeneity for familial hypertrophic cardiomyopathy in Chinese: analysis of six Chinese kindreds. (10374350)
1998
35
Familial hypertrophic cardiomyopathy. Cardiac ultrasonic abnormalities in genetically affected subjects without echocardiographic evidence of left ventricular hypertrophy. (9568454)
1998
36
Missing pieces: myosin binding protein C truncations in familial hypertrophic cardiomyopathy. (9048665)
1997
37
Penetrance of familial hypertrophic cardiomyopathy. (9219008)
1997
38
Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome progressing to ventricular dilation. (8644606)
1996
39
Doppler echocardiography in familial hypertrophic cardiomyopathy: the French Cooperative Study. (10150472)
1995
40
Genetic testing for familial hypertrophic cardiomyopathy in newborn infants. A positive screening test for an untreatable condition provides psychological relief from uncertainty. (7646731)
1995
41
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. (7493025)
1995
42
Familial hypertrophic cardiomyopathy. Nonsense versus missense mutations. (7796493)
1995
43
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. (8205619)
1994
44
Exclusion of genes coding for proteins of the cytoskeleton and the extracellular matrix in familial hypertrophic cardiomyopathy using a candidate gene approach. (8221230)
1993
45
Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene. (8254035)
1993
46
Apical hypertrophic cardiomyopathy of the Japanese type: occurrence with familial hypertrophic cardiomyopathy in a family. (1462925)
1992
47
Familial hypertrophic cardiomyopathy associated with spontaneous complete heart block. (1765747)
1991
48
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. (2811944)
1989
49
Familial hypertrophic cardiomyopathy mimicing typical dilated cardiomyopathy. (3773227)
1986
50
Familial hypertrophic cardiomyopathy and preexcitation. (6229172)
1984

Variations for Familial Hypertrophic Cardiomyopathy

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Familial Hypertrophic Cardiomyopathy:

64 (show all 172)
id Symbol AA change Variation ID SNP ID
1CAV3p.Thr64SerVAR_029543
2MYH7p.Ala26ValVAR_004566rs186964570
3MYH7p.Val59IleVAR_004567
4MYH7p.Arg143GlnVAR_004568
5MYH7p.Arg249GlnVAR_004569rs3218713
6MYH7p.Gly256GluVAR_004570
7MYH7p.Ile263ThrVAR_004571
8MYH7p.Met349ThrVAR_004572
9MYH7p.Arg403LeuVAR_004573
10MYH7p.Arg403GlnVAR_004574
11MYH7p.Arg403TrpVAR_004575rs3218714
12MYH7p.Arg453CysVAR_004576
13MYH7p.Phe513CysVAR_004577
14MYH7p.Gly584ArgVAR_004578
15MYH7p.Asp587ValVAR_004579
16MYH7p.Asn602SerVAR_004580
17MYH7p.Val606MetVAR_004581
18MYH7p.Lys615AsnVAR_004582
19MYH7p.Gly716ArgVAR_004583
20MYH7p.Arg719TrpVAR_004584
21MYH7p.Arg723CysVAR_004585
22MYH7p.Pro731LeuVAR_004586
23MYH7p.Ile736MetVAR_004587
24MYH7p.Gly741ArgVAR_004588
25MYH7p.Gly741TrpVAR_004589
26MYH7p.Asp778GlyVAR_004590
27MYH7p.Ala797ThrVAR_004591rs3218716
28MYH7p.Arg870HisVAR_004592rs36211715
29MYH7p.Leu908ValVAR_004593
30MYH7p.Glu924LysVAR_004594
31MYH7p.Glu930LysVAR_004595
32MYH7p.Glu935LysVAR_004597
33MYH7p.Glu949LysVAR_004598
34MYH7p.Glu743AspVAR_014199
35MYH7p.Arg719GlnVAR_017749
36MYH7p.Ala728ValVAR_017750
37MYH7p.Val39MetVAR_019845
38MYH7p.Thr188AsnVAR_019846
39MYH7p.Arg204HisVAR_019847
40MYH7p.Asn232SerVAR_019848
41MYH7p.Ala355ThrVAR_019849
42MYH7p.Ala428ValVAR_019850
43MYH7p.Ile443ThrVAR_019851
44MYH7p.Asn479SerVAR_019852
45MYH7p.Glu483LysVAR_019853
46MYH7p.Met659IleVAR_019854
47MYH7p.Arg663HisVAR_019855
48MYH7p.Arg663SerVAR_019856
49MYH7p.Arg671CysVAR_019857
50MYH7p.Gly733GluVAR_019858
51MYH7p.Gly768ArgVAR_019859
52MYH7p.Asp778GluVAR_019860
53MYH7p.Arg787HisVAR_019861
54MYH7p.Met852ThrVAR_019862
55MYH7p.Arg869GlyVAR_019863
56MYH7p.Leu1135ArgVAR_019865
57MYH7p.Glu1218GlnVAR_019866
58MYH7p.Thr1377MetVAR_019867
59MYH7p.Ala1379ThrVAR_019868
60MYH7p.Arg1382TrpVAR_019869
61MYH7p.Ala1777ThrVAR_019871
62MYH7p.Thr124IleVAR_020797
63MYH7p.Tyr162CysVAR_020798
64MYH7p.Asn187LysVAR_020799
65MYH7p.Arg190ThrVAR_020800
66MYH7p.Gln222LysVAR_020801
67MYH7p.Phe244LeuVAR_020802
68MYH7p.Val320MetVAR_020803
69MYH7p.Leu390ValVAR_020804
70MYH7p.Val406MetVAR_020805
71MYH7p.Glu499LysVAR_020806rs3218715
72MYH7p.Gln595ArgVAR_020807
73MYH7p.Leu601ValVAR_020808
74MYH7p.Arg694CysVAR_020809
75MYH7p.Asn696SerVAR_020810
76MYH7p.Arg712LeuVAR_020811
77MYH7p.Arg723GlyVAR_020812
78MYH7p.Ser782AsnVAR_020813
79MYH7p.Glu846GlnVAR_020814
80MYH7p.Arg869CysVAR_020815
81MYH7p.Arg870CysVAR_020816rs36211715
82MYH7p.Met877LysVAR_020817
83MYH7p.Glu1555LysVAR_020820
84MYH7p.Ser1776GlyVAR_020821
85MYH7p.Arg143TrpVAR_029431
86MYH7p.Val411IleVAR_029432
87MYH7p.Ala430GluVAR_029433
88MYH7p.Leu517MetVAR_029435
89MYH7p.Gly584SerVAR_029436
90MYH7p.Arg694HisVAR_029437
91MYH7p.Gln734GluVAR_029438
92MYH7p.Ile736ThrVAR_029439
93MYH7p.Leu796PheVAR_029440
94MYH7p.Val824IleVAR_029441
95MYH7p.Cys905PheVAR_029442
96MYH7p.Glu924GlnVAR_029443
97MYH7p.Asp928AsnVAR_029444
98MYH7p.Met515ValVAR_039562
99MYH7p.Arg858CysVAR_039563
100MYH7p.Tyr115HisVAR_042762
101MYH7p.Arg143GlyVAR_042763
102MYH7p.Lys146AsnVAR_042764
103MYH7p.Ser148IleVAR_042765
104MYH7p.Val186LeuVAR_042766
105MYH7p.Ala196ThrVAR_042767
106MYH7p.Lys207GlnVAR_042769
107MYH7p.Pro211LeuVAR_042770
108MYH7p.Leu227ValVAR_042771
109MYH7p.Ile263MetVAR_042772
110MYH7p.Phe312CysVAR_042773
111MYH7p.Glu328GlyVAR_042774
112MYH7p.Lys351GluVAR_042775
113MYH7p.Lys383AsnVAR_042776
114MYH7p.Ala385ValVAR_042777
115MYH7p.Val404LeuVAR_042778
116MYH7p.Val404MetVAR_042779
117MYH7p.Gly407ValVAR_042780
118MYH7p.Gly425ArgVAR_042782
119MYH7p.Met435ThrVAR_042783
120MYH7p.Val440MetVAR_042784
121MYH7p.Lys450GluVAR_042786
122MYH7p.Lys450ThrVAR_042787
123MYH7p.Arg453HisVAR_042788
124MYH7p.Glu500AlaVAR_042789
125MYH7p.Tyr501CysVAR_042790
126MYH7p.Ile511PheVAR_042791
127MYH7p.Ile511ThrVAR_042792
128MYH7p.Met515ArgVAR_042793
129MYH7p.Gly571ArgVAR_042795
130MYH7p.His576ArgVAR_042796
131MYH7p.Lys615GlnVAR_042797
132MYH7p.Arg663CysVAR_042798
133MYH7p.Val698AlaVAR_042799
134MYH7p.Gln734ProVAR_042800
135MYH7p.Ala742GluVAR_042801
136MYH7p.Val763GlyVAR_042802
137MYH7p.Glu774ValVAR_042803
138MYH7p.Asp778ValVAR_042804
139MYH7p.Met822LeuVAR_042805
140MYH7p.Met822ThrVAR_042806
141MYH7p.Gly823GluVAR_042807
142MYH7p.Arg858HisVAR_042809rs2856897
143MYH7p.Arg869HisVAR_042810rs202141173
144MYH7p.Gln882GluVAR_042811
145MYH7p.Glu894GlyVAR_042812
146MYH7p.Ala901GlyVAR_042813
147MYH7p.Asp906GlyVAR_042814
148MYH7p.Glu921LysVAR_042815
149MYH7p.Glu927LysVAR_042816
150MYH7p.Glu931LysVAR_042817
151MYH7p.Asp953HisVAR_042818
152MYH7p.Gly1057AspVAR_042820
153MYH7p.Gly1057SerVAR_042821
154MYH7p.Asn1327LysVAR_042823
155MYH7p.Glu1356LysVAR_042824
156MYH7p.Arg1420TrpVAR_042825
157MYH7p.Ala1454ThrVAR_042827
158MYH7p.Lys1459AsnVAR_042828
159MYH7p.Thr1513SerVAR_042830
160MYH7p.Arg1712TrpVAR_042834
161MYH7p.Glu1753LysVAR_042836
162MYH7p.Glu1768LysVAR_042837
163MYH7p.Thr1854MetVAR_042838
164MYH7p.Glu1883LysVAR_042839
165MYH7p.Thr1929MetVAR_042842
166MYH7p.Val763MetVAR_045926
167MYH7p.Arg787CysVAR_045927
168MYH7p.Leu1414MetVAR_045928
169MYLK2p.Ala87ValVAR_014197rs121908107
170MYLK2p.Ala95GluVAR_014198rs121908108
171TCAPp.Thr137IleVAR_029447
172TCAPp.Arg153HisVAR_029448

Clinvar genetic disease variations for Familial Hypertrophic Cardiomyopathy:

1 (show all 140)
id Gene Name Type Significance SNP ID Assembly Location
1TNNT2NM_000364.3(TNNT2): c.266T> A (p.Ile89Asn)single nucleotide variantPathogenicrs121964855GRCh37Chr 1, 201334766: 201334766
2TNNT2NM_000364.3(TNNT2): c.305G> A (p.Arg102Gln)single nucleotide variantPathogenicrs121964856GRCh37Chr 1, 201334425: 201334425
3TNNI3NM_000363.4(TNNI3): c.433C> G (p.Arg145Gly)single nucleotide variantPathogenicrs104894724GRCh37Chr 19, 55665514: 55665514
4TNNI3NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp)single nucleotide variantPathogenicrs104894724GRCh37Chr 19, 55665514: 55665514
5TPM1NM_001018005.1(TPM1): c.523G> A (p.Asp175Asn)single nucleotide variantPathogenicrs104894503GRCh37Chr 15, 63353098: 63353098
6MYL2NM_000432.3(MYL2): c.173G> A (p.Arg58Gln)single nucleotide variantPathogenicrs104894369GRCh37Chr 12, 111352091: 111352091
7MYH7NM_000257.3(MYH7): c.1208G> A (p.Arg403Gln)single nucleotide variantPathogenicrs121913624GRCh37Chr 14, 23898487: 23898487
8MYH7NM_000257.3(MYH7): c.746G> A (p.Arg249Gln)single nucleotide variantPathogenicrs3218713GRCh37Chr 14, 23900677: 23900677
9MYH7NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys)single nucleotide variantPathogenicrs121913625GRCh37Chr 14, 23898214: 23898214
10MYH7NM_000257.3(MYH7): c.1750G> C (p.Gly584Arg)single nucleotide variantLikely pathogenic, Pathogenicrs121913626GRCh37Chr 14, 23896932: 23896932
11MYH7NM_000257.3(MYH7): c.1816G> A (p.Val606Met)single nucleotide variantPathogenicrs121913627GRCh37Chr 14, 23896866: 23896866
12MYH7NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys)single nucleotide variantPathogenicrs121913628GRCh37Chr 14, 23893268: 23893268
13MYH7NM_000257.3(MYH7): c.2167C> T (p.Arg723Cys)single nucleotide variantPathogenicrs121913630GRCh37Chr 14, 23895023: 23895023
14MYH7NM_000257.3(MYH7): c.2722C> G (p.Leu908Val)single nucleotide variantPathogenicrs121913631GRCh37Chr 14, 23893316: 23893316
15MYH7NM_000257.3(MYH7): c.2221G> C (p.Gly741Arg)single nucleotide variantPathogenicrs121913632GRCh37Chr 14, 23894969: 23894969
16MYH7NM_000257.3(MYH7): c.767G> A (p.Gly256Glu)single nucleotide variantPathogenicrs121913633GRCh37Chr 14, 23900656: 23900656
17MYH7NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp)single nucleotide variantPathogenicrs3218714GRCh37Chr 14, 23898488: 23898488
18MYH7NM_000257.3(MYH7): c.2155C> T (p.Arg719Trp)single nucleotide variantPathogenicrs121913637GRCh37Chr 14, 23895180: 23895180
19MYH7NM_000257.3(MYH7): c.2146G> A (p.Gly716Arg)single nucleotide variantPathogenicrs121913638GRCh37Chr 14, 23895189: 23895189
20MYH7NM_000257.3(MYH7): c.2156G> A (p.Arg719Gln)single nucleotide variantPathogenicrs121913641GRCh37Chr 14, 23895179: 23895179
21MYH7NM_000257.3(MYH7): c.2609G> A (p.Arg870His)single nucleotide variantPathogenicrs36211715GRCh37Chr 14, 23894048: 23894048
22MYH7NM_000257.3(MYH7): c.1491G> T (p.Glu497Asp)single nucleotide variantLikely pathogenic, Pathogenicrs267606911GRCh37Chr 14, 23897796: 23897796
23MYH7NM_000257.3(MYH7): c.2717A> G (p.Asp906Gly)single nucleotide variantPathogenicrs267606908GRCh37Chr 14, 23893321: 23893321
24NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys)single nucleotide variantPathogenicrs193922680GRCh37Chr 15, 35085599: 35085599
25TPM1NM_001018005.1(TPM1): c.574G> A (p.Glu192Lys)single nucleotide variantLikely pathogenic, Pathogenicrs199476315GRCh37Chr 15, 63353922: 63353922
26MYBPC3NM_000256.3(MYBPC3): c.3408C> A (p.Tyr1136Ter)single nucleotide variantLikely pathogenic, Pathogenicrs193922383GRCh37Chr 11, 47354447: 47354447
27MYBPC3NM_000256.3(MYBPC3): c.2827C> T (p.Arg943Ter)single nucleotide variantPathogenicrs387907267GRCh37Chr 11, 47356671: 47356671
28MYH7NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del)deletionLikely pathogenic, Pathogenicrs367543052GRCh37Chr 14, 23884685: 23884687
29MYBPC3NM_000256.3(MYBPC3): c.1156G> T (p.Glu386Ter)single nucleotide variantPathogenicrs397515888GRCh37Chr 11, 47365110: 47365110
30MYBPC3NM_000256.3(MYBPC3): c.1168delC (p.His390Metfs)deletionPathogenicrs397515889GRCh37Chr 11, 47365098: 47365098
31MYBPC3NM_000256.3(MYBPC3): c.1224-2A> Gsingle nucleotide variantPathogenicrs397515891GRCh37Chr 11, 47364815: 47364815
32MYBPC3NM_000256.3(MYBPC3): c.1235_1236delTT (p.Phe412Terfs)deletionPathogenicrs397515894GRCh37Chr 11, 47364687: 47364688
33MYBPC3NM_000256.3(MYBPC3): c.1273C> T (p.Gln425Ter)single nucleotide variantPathogenicrs397515895GRCh37Chr 11, 47364650: 47364650
34MYBPC3NM_000256.3(MYBPC3): c.1310delT (p.Val437Glyfs)deletionPathogenicrs397515896GRCh37Chr 11, 47364613: 47364613
35MYBPC3NM_000256.3(MYBPC3): c.1351+2T> Csingle nucleotide variantPathogenicrs397515897GRCh37Chr 11, 47364570: 47364570
36MYBPC3NM_000256.3(MYBPC3): c.1458-1G> Asingle nucleotide variantPathogenicrs397515903GRCh37Chr 11, 47364296: 47364296
37MYBPC3NM_000256.3(MYBPC3): c.1504C> T (p.Arg502Trp)single nucleotide variantPathogenicrs375882485GRCh37Chr 11, 47364249: 47364249
38MYBPC3NM_000256.3(MYBPC3): c.1505G> A (p.Arg502Gln)single nucleotide variantPathogenicrs397515907GRCh37Chr 11, 47364248: 47364248
39MYBPC3NM_000256.3(MYBPC3): c.1575T> G (p.Tyr525Ter)single nucleotide variantPathogenicrs397515910GRCh37Chr 11, 47364178: 47364178
40MYBPC3NM_000256.3(MYBPC3): c.1693A> T (p.Lys565Ter)single nucleotide variantPathogenicrs397515920GRCh37Chr 11, 47363639: 47363639
41MYBPC3NM_000256.3(MYBPC3): c.177_187delAGAGGGCACAC (p.Glu60Alafs)deletionPathogenicrs397515925GRCh37Chr 11, 47372895: 47372905
42MYBPC3NM_000256.3(MYBPC3): c.1800delA (p.Lys600Asnfs)deletionPathogenicrs397515926GRCh37Chr 11, 47362786: 47362786
43MYBPC3NM_000256.3(MYBPC3): c.1863delC (p.Phe621Leufs)deletionPathogenicrs397515931GRCh37Chr 11, 47362723: 47362723
44MYBPC3NM_000256.3(MYBPC3): c.1892delT (p.Phe631Serfs)deletionPathogenicrs397515933GRCh37Chr 11, 47362694: 47362694
45MYBPC3NM_000256.3(MYBPC3): c.1895delT (p.Met632Argfs)deletionPathogenicrs397515934GRCh37Chr 11, 47362691: 47362691
46MYBPC3NM_000256.3(MYBPC3): c.1897+1G> Asingle nucleotide variantPathogenicrs397515935GRCh37Chr 11, 47362688: 47362688
47MYBPC3NM_000256.3(MYBPC3): c.1928-2A> Gsingle nucleotide variantPathogenicrs397515937GRCh37Chr 11, 47361343: 47361343
48MYBPC3NM_000256.3(MYBPC3): c.2048G> A (p.Trp683Ter)single nucleotide variantPathogenicrs397515942GRCh37Chr 11, 47361221: 47361221
49MYBPC3NM_000256.3(MYBPC3): c.2013_2016delCCCTinsGG (p.Pro672Aspfs)indelPathogenicrs397515943GRCh37Chr 11, 47361253: 47361256
50MYBPC3NM_000256.3(MYBPC3): c.2040dupT (p.Val681Cysfs)duplicationPathogenicrs397515944GRCh37Chr 11, 47361228: 47361229
51MYBPC3NM_000256.3(MYBPC3): c.2096delC (p.Pro699Glnfs)deletionPathogenicrs397515947GRCh37Chr 11, 47360927: 47360927
52MYBPC3NM_000256.3(MYBPC3): c.2113dupA (p.Thr705Asnfs)duplicationPathogenicrs397515948GRCh37Chr 11, 47360909: 47360910
53MYBPC3NM_000256.3(MYBPC3): c.2163delC (p.Glu722Argfs)deletionPathogenicrs397515952GRCh37Chr 11, 47360216: 47360216
54MYBPC3NM_000256.3(MYBPC3): c.2182G> T (p.Glu728Ter)single nucleotide variantPathogenicrs397515954GRCh37Chr 11, 47360197: 47360197
55MYBPC3NM_000256.3(MYBPC3): c.2308+1G> Asingle nucleotide variantPathogenicrs112738974GRCh37Chr 11, 47360070: 47360070
56MYBPC3NM_000256.3(MYBPC3): c.2308+1G> Tsingle nucleotide variantPathogenicrs112738974GRCh37Chr 11, 47360070: 47360070
57MYBPC3NM_000256.3(MYBPC3): c.2309-2A> Gsingle nucleotide variantPathogenicrs111729952GRCh37Chr 11, 47359347: 47359347
58MYBPC3NM_000256.3(MYBPC3): c.2311dupG (p.Val771Glyfs)duplicationPathogenicrs397515960GRCh37Chr 11, 47359342: 47359343
59MYBPC3NM_000256.3(MYBPC3): c.2373dupG (p.Trp792Valfs)duplicationPathogenicrs397515963GRCh37Chr 11, 47359280: 47359281
60MYBPC3NM_000256.3(MYBPC3): c.2454G> A (p.Trp818Ter)single nucleotide variantPathogenicrs397515965GRCh37Chr 11, 47359090: 47359090
61MYBPC3NM_000256.3(MYBPC3): c.2490dupT (p.His831Serfs)duplicationPathogenicrs397515966GRCh37Chr 11, 47359053: 47359054
62MYBPC3NM_000256.3(MYBPC3): c.2524dupT (p.Tyr842Leufs)duplicationPathogenicrs397515970GRCh37Chr 11, 47359019: 47359020
63MYBPC3NM_000256.3(MYBPC3): c.2534_2538delGCGTC (p.Arg845Leufs)deletionPathogenicrs397515973GRCh37Chr 11, 47359006: 47359010
64MYBPC3NM_000256.3(MYBPC3): c.2541C> G (p.Tyr847Ter)single nucleotide variantPathogenicrs397515974GRCh37Chr 11, 47359003: 47359003
65MYBPC3NM_000256.3(MYBPC3): c.2556_2557delCGinsTCT (p.Gly853Leufs)indelPathogenicrs397515975GRCh37Chr 11, 47358987: 47358988
66MYBPC3NM_000256.3(MYBPC3): c.2558delG (p.Gly853Alafs)deletionPathogenicrs397515977GRCh37Chr 11, 47358986: 47358986
67MYBPC3NM_000256.3(MYBPC3): c.26-2A> Gsingle nucleotide variantPathogenicrs376395543GRCh37Chr 11, 47373058: 47373058
68MYBPC3NM_000256.3(MYBPC3): c.2610dupC (p.Ser871Glnfs)duplicationPathogenicrs397515979GRCh37Chr 11, 47357554: 47357555
69MYBPC3NM_000256.3(MYBPC3): c.2670G> A (p.Trp890Ter)single nucleotide variantPathogenicrs397515982GRCh37Chr 11, 47357495: 47357495
70MYBPC3NM_000256.3(MYBPC3): c.2833_2834delCG (p.Arg945Glyfs)deletionPathogenicrs397515987GRCh37Chr 11, 47356664: 47356665
71MYBPC3NM_000256.3(MYBPC3): c.2864_2865delCT (p.Pro955Argfs)deletionPathogenicrs397515990GRCh37Chr 11, 47356633: 47356634
72MYBPC3NM_000256.3(MYBPC3): c.2905+1G> Asingle nucleotide variantPathogenicrs397515991GRCh37Chr 11, 47356592: 47356592
73MYBPC3NM_000256.3(MYBPC3): c.2905+1G> Csingle nucleotide variantPathogenicrs397515991GRCh37Chr 11, 47356592: 47356592
74MYBPC3NM_000256.3(MYBPC3): c.2905C> T (p.Gln969Ter)single nucleotide variantPathogenicrs397515992GRCh37Chr 11, 47356593: 47356593
75MYBPC3NM_000256.3(MYBPC3): c.2943_2947delGACCA (p.Gln981Hisfs)deletionPathogenicrs397515995GRCh37Chr 11, 47355520: 47355524
76MYBPC3NM_000256.3(MYBPC3): c.3040delC (p.Leu1014Trpfs)deletionPathogenicrs397515997GRCh37Chr 11, 47355258: 47355258
77MYBPC3NM_000256.3(MYBPC3): c.3068dupA (p.Asn1023Lysfs)duplicationPathogenicrs397516001GRCh37Chr 11, 47355229: 47355230
78MYBPC3NM_000256.3(MYBPC3): c.3181C> T (p.Gln1061Ter)single nucleotide variantPathogenicrs397516005GRCh37Chr 11, 47355117: 47355117
79MYBPC3NM_000256.3(MYBPC3): c.3190+2T> Gsingle nucleotide variantPathogenicrs113358486GRCh37Chr 11, 47355106: 47355106
80MYBPC3NM_000256.3(MYBPC3): c.3233G> A (p.Trp1078Ter)single nucleotide variantPathogenicrs397516006GRCh37Chr 11, 47354842: 47354842
81MYBPC3NM_000256.3(MYBPC3): c.3192dupC (p.Lys1065Glnfs)duplicationPathogenicrs397516007GRCh37Chr 11, 47354882: 47354883
82MYBPC3NM_000256.3(MYBPC3): c.3226_3227insT (p.Asp1076Valfs)insertionPathogenicrs397516008GRCh37Chr 11, 47354848: 47354849
83MYBPC3NM_000256.3(MYBPC3): c.3253G> T (p.Glu1085Ter)single nucleotide variantPathogenicrs397516010GRCh37Chr 11, 47354822: 47354822
84MYBPC3NM_000256.3(MYBPC3): c.3293G> A (p.Trp1098Ter)single nucleotide variantPathogenicrs397516013GRCh37Chr 11, 47354782: 47354782
85MYBPC3NM_000256.3(MYBPC3): c.3297dupG (p.Tyr1100Valfs)duplicationPathogenicrs397516014GRCh37Chr 11, 47354777: 47354778
86MYBPC3NM_000256.3(MYBPC3): c.3330+5G> Csingle nucleotide variantPathogenicrs373746463GRCh37Chr 11, 47354740: 47354740
87MYBPC3NM_000256.3(MYBPC3): c.3476_3479dupTTAT (p.Pro1161Tyrfs)duplicationPathogenicrs397516019GRCh37Chr 11, 47354376: 47354379
88MYBPC3NM_000256.3(MYBPC3): c.3490+1G> Asingle nucleotide variantPathogenicrs397516020GRCh37Chr 11, 47354364: 47354364
89MYBPC3NM_000256.3(MYBPC3): c.3491-2A> Tsingle nucleotide variantPathogenicrs397516022GRCh37Chr 11, 47354255: 47354255
90MYBPC3NM_000256.3(MYBPC3): c.350delC (p.Pro117Leufs)deletionPathogenicrs397516023GRCh37Chr 11, 47372109: 47372109
91MYBPC3NM_000256.3(MYBPC3): c.3624dupC (p.Lys1209Glnfs)duplicationPathogenicrs397516029GRCh37Chr 11, 47354119: 47354120
92MYBPC3NM_000256.3(MYBPC3): c.3624delC (p.Lys1209Serfs)deletionPathogenicrs397516030GRCh37Chr 11, 47354120: 47354120
93MYBPC3NM_000256.3(MYBPC3): c.3627+1G> Asingle nucleotide variantPathogenicrs397516031GRCh37Chr 11, 47354116: 47354116
94MYBPC3NM_000256.3(MYBPC3): c.362delC (p.Pro121Argfs)deletionPathogenicrs397516032GRCh37Chr 11, 47372097: 47372097
95MYBPC3NM_000256.3(MYBPC3): c.3694A> T (p.Lys1232Ter)single nucleotide variantPathogenicrs397516035GRCh37Chr 11, 47353743: 47353743
96MYBPC3NM_000256.3(MYBPC3): c.3697C> T (p.Gln1233Ter)single nucleotide variantPathogenicrs397516037GRCh37Chr 11, 47353740: 47353740
97MYBPC3NM_000256.3(MYBPC3): c.3811C> T (p.Arg1271Ter)single nucleotide variantPathogenicrs397516042GRCh37Chr 11, 47353626: 47353626
98MYBPC3NM_000256.3(MYBPC3): c.431_432delGT (p.Gly144Alafs)deletionPathogenicrs397516047GRCh37Chr 11, 47371638: 47371639
99MYBPC3NM_000256.3(MYBPC3): c.436dupA (p.Thr146Asnfs)duplicationPathogenicrs397516049GRCh37Chr 11, 47371633: 47371634
100MYBPC3NM_000256.3(MYBPC3): c.459delC (p.Ile154Leufs)deletionPathogenicrs397516052GRCh37Chr 11, 47371611: 47371611
101MYBPC3NM_000256.3(MYBPC3): c.506-1G> Tsingle nucleotide variantPathogenicrs397516056GRCh37Chr 11, 47371474: 47371474
102MYBPC3NM_000256.3(MYBPC3): c.506-2A> Csingle nucleotide variantPathogenicrs397516057GRCh37Chr 11, 47371475: 47371475
103MYBPC3NM_000256.3(MYBPC3): c.540_559del20 (p.Ala181Cysfs)deletionPathogenicrs397516058GRCh37Chr 11, 47371420: 47371439
104MYBPC3NM_000256.3(MYBPC3): c.613C> T (p.Gln205Ter)single nucleotide variantPathogenicrs397516061GRCh37Chr 11, 47371366: 47371366
105MYBPC3NM_000256.3(MYBPC3): c.655-1G> Asingle nucleotide variantPathogenicrs397516067GRCh37Chr 11, 47370093: 47370093
106MYBPC3NM_000256.3(MYBPC3): c.772+1G> Asingle nucleotide variantPathogenicrs397516072GRCh37Chr 11, 47369974: 47369974
107MYBPC3NM_000256.3(MYBPC3): c.821+1G> Asingle nucleotide variantPathogenicrs397516073GRCh37Chr 11, 47369407: 47369407
108MYBPC3NM_000256.3(MYBPC3): c.772G> A (p.Glu258Lys)single nucleotide variantPathogenicrs397516074GRCh37Chr 11, 47369975: 47369975
109MYBPC3NM_000256.3(MYBPC3): c.821+2T> Csingle nucleotide variantPathogenicrs397516076GRCh37Chr 11, 47369406: 47369406
110MYBPC3NM_000256.3(MYBPC3): c.821+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397516077GRCh37Chr 11, 47369403: 47369403
111MYBPC3NM_000256.3(MYBPC3): c.913_914delTT (p.Phe305Profs)deletionPathogenicrs397516080GRCh37Chr 11, 47368190: 47368191
112MYBPC3NM_000256.3(MYBPC3): c.927-2A> Gsingle nucleotide variantPathogenicrs397516082GRCh37Chr 11, 47367923: 47367923
113MYBPC3NM_000256.3(MYBPC3): c.927-9G> Asingle nucleotide variantPathogenicrs397516083GRCh37Chr 11, 47367930: 47367930
114MYBPC3NM_000256.3(MYBPC3): c.984_1054del71 (p.Pro329Glnfs)deletionPathogenicGRCh37Chr 11, 47367794: 47367864
115MYH7NM_000257.3(MYH7): c.1988G> A (p.Arg663His)single nucleotide variantPathogenicrs371898076GRCh37Chr 14, 23896042: 23896042
116MYH7NM_000257.3(MYH7): c.2167C> G (p.Arg723Gly)single nucleotide variantPathogenicrs121913630GRCh37Chr 14, 23895023: 23895023
117MYH7NM_000257.3(MYH7): c.2221G> A (p.Gly741Arg)single nucleotide variantPathogenicrs121913632GRCh37Chr 14, 23894969: 23894969
118MYH7NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr)single nucleotide variantPathogenicrs3218716GRCh37Chr 14, 23894525: 23894525
119MYH7NM_000257.3(MYH7): c.2513C> T (p.Pro838Leu)single nucleotide variantLikely pathogenic, Pathogenicrs397516153GRCh37Chr 14, 23894144: 23894144
120MYH7NM_000257.3(MYH7): c.2744T> C (p.Leu915Pro)single nucleotide variantPathogenicrs397516166GRCh37Chr 14, 23893294: 23893294
121MYH7NM_000257.3(MYH7): c.2788G> A (p.Glu930Lys)single nucleotide variantPathogenicrs397516171GRCh37Chr 14, 23893250: 23893250
122MYH7NM_000257.3(MYH7): c.2791_2793delGAG (p.Glu931del)deletionPathogenicrs397516172GRCh37Chr 14, 23893245: 23893247
123MYH7NM_000257.3(MYH7): c.4135G> A (p.Ala1379Thr)single nucleotide variantPathogenicrs397516202GRCh37Chr 14, 23887453: 23887453
124MYH7NM_000257.3(MYH7): c.438G> T (p.Lys146Asn)single nucleotide variantPathogenicrs397516212GRCh37Chr 14, 23901912: 23901912
125TNNI3NM_000363.4(TNNI3): c.532_534delAAG (p.Lys178del)deletionPathogenicrs397516351GRCh37Chr 19, 55665413: 55665415
126TNNI3NM_000363.4(TNNI3): c.470C> T (p.Ala157Val)single nucleotide variantPathogenicrs397516353GRCh37Chr 19, 55665477: 55665477
127TNNI3NM_000363.4(TNNI3): c.557G> A (p.Arg186Gln)single nucleotide variantPathogenicrs397516357GRCh37Chr 19, 55663278: 55663278
128TNNT2NM_000364.3(TNNT2): c.304C> T (p.Arg102Trp)single nucleotide variantPathogenicrs397516456GRCh37Chr 1, 201334426: 201334426
129TNNT2NM_000364.3(TNNT2): c.311G> A (p.Arg104His)single nucleotide variantPathogenicrs397516457GRCh37Chr 1, 201334419: 201334419
130TNNT2NM_000364.3(TNNT2): c.517_519delGAG (p.Glu173del)deletionPathogenicrs397516470GRCh37Chr 1, 201332505: 201332507
131TNNT2NM_000364.3(TNNT2): c.842+1G> Asingle nucleotide variantPathogenicrs111377893GRCh37Chr 1, 201328750: 201328750
132PRKAG2NM_016203.3(PRKAG2): c.905G> A (p.Arg302Gln)single nucleotide variantPathogenicrs121908987GRCh37Chr 7, 151273498: 151273498
133PRKAG2NM_016203.3(PRKAG2): c.1199C> A (p.Thr400Asn)single nucleotide variantLikely pathogenic, Pathogenicrs28938173GRCh37Chr 7, 151265836: 151265836
134PRKAG2NM_016203.3(PRKAG2): c.1592G> A (p.Arg531Gln)single nucleotide variantPathogenicrs121908991GRCh37Chr 7, 151257696: 151257696
135MYBPC3NM_000256.3(MYBPC3): c.3742_3759dup18 (p.Cys1253_Arg1254insGlyGlyIleTyrValCys)duplicationPathogenic, Uncertain significancers193922384GRCh38Chr 11, 47332127: 47332144
136MYBPC3NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln)single nucleotide variantPathogenicrs121909374GRCh37Chr 11, 47364129: 47364129
137MYBPC3NM_000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter)single nucleotide variantPathogenicrs121909377GRCh37Chr 11, 47354789: 47354789
138MYBPC3NM_000256.3(MYBPC3): c.3330+2T> Gsingle nucleotide variantPathogenicrs387906397GRCh37Chr 11, 47354743: 47354743
139MT-TIm.4295A> Gsingle nucleotide variantPathogenicrs121434467GRCh37Chr MT, 4295: 4295
140MT-TGm.9997T> Csingle nucleotide variantPathogenicrs121434475GRCh37Chr MT, 9997: 9997

Expression for genes affiliated with Familial Hypertrophic Cardiomyopathy

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Familial Hypertrophic Cardiomyopathy

Search GEO for disease gene expression data for Familial Hypertrophic Cardiomyopathy.

Pathways for genes affiliated with Familial Hypertrophic Cardiomyopathy

About this section
Sources:
50PathCards, 53QIAGEN, 5Cell Signaling Technology, 60Thomson Reuters, 38NCBI BioSystems Database, 55Reactome, 30KEGG
See all sources

Pathways related to Familial Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3MYH7, MYL3, MYH6
2
Show member pathways
9.3MYL3, MYH7, MYH6
39.1TPM1, TNNI3, TNNT2, ACTC1
4
Show member pathways
9.1MYL3, MYH7, MYLK2, MYH6
59.1MYH6, TNNI3, TNNT2, ACTC1
6
Show member pathways
Calcium Regulation in the Cardiac Cell38
9.0MYLK2, PLN, ACTC1
7
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
8.7MYH7, MYL3, MYH6, ACTC1, MYLK2
8
Show member pathways
8.4PLN, TNNC1, TNNT2, TNNI3
98.3MYLK2, PLN, SLC25A4, TNNC1
107.3TNNT2, TNNC1, TNNI3, TPM1, MYH7, MYL3
11
Show member pathways
6.8TCAP, MYH6, ACTC1, MYBPC3, TNNT2, TNNC1
126.5MYH6, PLN, ACTC1, MYL3, MYH7, TPM1
13
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
6.0TNNT2, MYBPC3, PLN, ACTC1, TNNC1, TNNI3

Compounds for genes affiliated with Familial Hypertrophic Cardiomyopathy

About this section
Sources:
45Novoseek, 29IUPHAR, 61Tocris Bioscience, 11DrugBank, 24HMDB, 51PharmGKB
See all sources

Compounds related to Familial Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1ryanodine45 29 6111.7MYH7, TTN, MYH6
2polyacrylamide459.6MYH6, MYH7, TTN
3n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide45 1110.6TNNC1, TNNI3
4(r)-(+)-blebbistatin619.6MYL3, MYH7, MYH6
5bts619.6MYL3, MYH7, MYH6
6isoproterenol45 1110.6MYH6, MYH7, CAV3
7(+-)-blebbistatin619.6MYH6, MYL3, MYH7
8(s)-(-)-blebbistatin619.5MYL3, MYH7, MYH6
9glycogen45 2410.3ACTC1, TNNT2, TTN, CAV3
10actomyosin459.0MYH7, MYLK2, TTN, TNNC1, ACTC1
11atp45 299.7MYBPC3, TTN, MYLK2, MYH6, SLC25A4, MYH7
12lipid458.0CAV3, MYH6, PLN, MYH7, SLC25A4
13creatinine457.9SLC25A4, ACTC1, MYL3, MYH7, TTN, TNNI3
14calcium45 51 24 118.1SLC25A4, TNNT2, TNNC1, TNNI3, TTN, TPM1

GO Terms for genes affiliated with Familial Hypertrophic Cardiomyopathy

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Sources:
16Gene Ontology
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Cellular components related to Familial Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1striated muscle thin filamentGO:00586510.0TTN, TNNT2
2myosin filamentGO:0329829.8MYH7, MYH6
3A bandGO:0316729.7MYL3, MYBPC3
4stress fiberGO:0017259.6TPM1, MYH7, MYH6
5myosin complexGO:0164599.6MYH6, MYH7
6muscle myosin complexGO:0058599.5MYH6, MYL3, MYH7
7vesicleGO:0319829.4CAV3, PLN
8troponin complexGO:0058619.4TNNT2, TNNC1, TNNI3
9Z discGO:0300189.4TTN, MYH7, MYH6, TCAP, CAV3
10I bandGO:0316749.3TTN, MYL3, TCAP, ACTC1
11sarcomereGO:0300177.7ACTC1, TNNT2, TNNI3, TPM1, MYBPC3, MYLK2
12cytosolGO:0058297.0TNNT2, TNNC1, TNNI3, TTN, TPM1, MYBPC3

Biological processes related to Familial Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1sarcomerogenesisGO:04876910.2TTN, TCAP
2regulation of muscle filament slidingGO:03297110.2MYLK2, MYBPC3
3detection of muscle stretchGO:03599510.2TTN, TCAP
4skeletal muscle myosin thick filament assemblyGO:03024110.2TTN, TCAP
5cardiac muscle hypertrophyGO:00330010.1TTN, TCAP
6atrial cardiac muscle tissue morphogenesisGO:0550099.9MYH6, TNNT2
7response to calcium ionGO:0515929.9TTN, TNNT2
8cardiac muscle fiber developmentGO:0487399.9TTN, MYH6, TCAP
9skeletal muscle thin filament assemblyGO:0302409.9TTN, TCAP, ACTC1
10cardiac myofibril assemblyGO:0550039.9ACTC1, TCAP, TTN
11heart contractionGO:0600479.7TNNI3, ACTC1
12regulation of striated muscle contractionGO:0069429.7MYL3, MYBPC3
13adult heart developmentGO:0075129.7TTN, MYH7, MYH6, TCAP
14striated muscle contractionGO:0069419.7MYH6, MYH7, MYLK2, TTN
15regulation of heart rateGO:0020279.7CAV3, MYH6, MYH7, MYBPC3
16cardiac muscle tissue morphogenesisGO:0550089.7ACTC1, TCAP, MYLK2, TTN
17regulation of ATPase activityGO:0434629.7TNNC1, MYH6
18muscle contractionGO:0069369.5MYH6, MYH7, TPM1, TTN
19regulation of muscle contractionGO:0069379.5TNNT2, TNNC1, TPM1
20ATP catabolic processGO:0062009.4TNNT2, MYH7, MYH6, ACTC1
21positive regulation of ATPase activityGO:0327819.4TNNT2, TPM1, MYBPC3, MYL3
22negative regulation of ATPase activityGO:0327809.4PLN, TNNI3, TNNT2
23negative regulation of calcium ion transportGO:0519269.3CAV3, PLN
24in utero embryonic developmentGO:0017019.2MYH6, TPM1, TTN
25sarcomere organizationGO:0452149.0TNNT2, TTN, TPM1, MYBPC3, MYH6, TCAP
26regulation of the force of heart contractionGO:0020268.9MYH7, MYL3, MYH6, PLN
27regulation of heart contractionGO:0080168.8TNNT2, TPM1, MYH6, PLN, CAV3
28ventricular cardiac muscle tissue morphogenesisGO:0550107.9MYH6, MYL3, MYH7, MYBPC3, TPM1, TNNI3
29cardiac muscle contractionGO:0600487.6TPM1, TTN, TNNI3, TNNC1, MYBPC3, MYLK2
30muscle filament slidingGO:0300496.9ACTC1, TCAP, MYH6, MYL3, MYH7, MYBPC3

Molecular functions related to Familial Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1titin bindingGO:03143210.2TCAP, MYBPC3
2troponin C bindingGO:03017210.1TNNI3, TNNT2
3actin-dependent ATPase activityGO:03089810.1MYH6, MYH7
4microfilament motor activityGO:00014610.0MYH6, MYH7
5myosin bindingGO:01702210.0MYBPC3, ACTC1
6troponin I bindingGO:0310139.8TNNT2, TNNC1
7troponin T bindingGO:0310149.8TNNI3, TNNC1
8calmodulin bindingGO:0055169.6TTN, MYLK2, MYH7, MYH6
9calcium channel regulator activityGO:0052469.5CAV3, PLN
10protein kinase bindingGO:0199019.5MYH6, TTN, TNNI3
11ATPase activityGO:0168879.5ACTC1, MYH6, MYH7, TNNT2
12calcium-dependent protein bindingGO:0483069.4TNNI3, TNNC1
13structural constituent of muscleGO:0083079.1TCAP, MYL3, MYBPC3, TPM1, TTN
14actin bindingGO:0037798.9TNNT2, TNNI3, TPM1, MYBPC3, MYH7, MYH6
15ATP bindingGO:0055248.6TTN, MYLK2, MYH7, MYH6, ACTC1
16calcium ion bindingGO:0055098.6TNNC1, TTN, MYL3, CALR3
17protein bindingGO:0055157.0TNNC1, TNNI3, TTN, MYLK2, MYH7, TCAP

Products for genes affiliated with Familial Hypertrophic Cardiomyopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Hypertrophic Cardiomyopathy

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet