MCID: CRD194
MIFTS: 55

Cardiomyopathy, Familial Hypertrophic malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic

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Aliases & Descriptions for Cardiomyopathy, Familial Hypertrophic:

Name: Cardiomyopathy, Familial Hypertrophic 50 68
Cardiomyopathy, Familial Hypertrophic 1 68 25
Asymmetric Septal Hypertrophy 68 25
Hypertrophic Subaortic Stenosis, Idiopathic 68
Cardiomyopathy, Hypertrophic, 1, Digenic 50
Cardiomyopathy, Familial Hypertrophic, 1 12
Familial Hypertrophic Cardiomyopathy 68
Ventricular Hypertrophy, Hereditary 68
 
Cardiomyopathy, Hypertrophic, 1 50
Hypertrophic Cardiomyopathy 68
Cmh1 68
Cmh 68
Ash 68
Fhc 68
Hcm 68

Characteristics:

HPO:

62
cardiomyopathy, familial hypertrophic:
Inheritance: autosomal dominant inheritance
Mortality/Aging: sudden death


Classifications:



External Ids:

OMIM50 192600
MeSH37 D024741

Summaries for Cardiomyopathy, Familial Hypertrophic

About this section
OMIM:50 Hereditary ventricular hypertrophy (CMH, HCM, ASH, or IHSS) in early stages produces a presystolic gallop due to an... (192600) more...

MalaCards based summary: Cardiomyopathy, Familial Hypertrophic, also known as cardiomyopathy, familial hypertrophic 1, is related to cardiomyopathy, familial hypertrophic, 9 and hypertrophic cardiomyopathy, and has symptoms including congestive heart failure, asymmetric septal hypertrophy and subaortic stenosis. An important gene associated with Cardiomyopathy, Familial Hypertrophic is MYH7 (Myosin Heavy Chain 7), and among its related pathways are Cardiomyocyte Differentiation through BMP Receptors and Tight junction. Affiliated tissues include heart, testes and skeletal muscle, and related mouse phenotypes are cardiovascular system and muscle.

UniProtKB/Swiss-Prot:68 Cardiomyopathy, familial hypertrophic: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

Genetics Home Reference:24 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.

Related Diseases for Cardiomyopathy, Familial Hypertrophic

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Diseases in the Hypertrophic Cardiomyopathy family:

Cardiomyopathy, Hypertrophic, 20 Cardiomyopathy, Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 9 cardiomyopathy, familial hypertrophic
Cardiomyopathy, Hypertrophic, 13 Cardiomyopathy, Hypertrophic, 8
Cardiomyopathy, Hypertrophic, 16 Cardiomyopathy, Hypertrophic, 18
Cardiomyopathy, Hypertrophic 6 Cardiomyopathy, Hypertrophic, 15
Cardiomyopathy, Hypertrophic, 12 Cardiomyopathy, Hypertrophic, 4
Cardiomyopathy, Hypertrophic, 10 Cardiomyopathy, Hypertrophic, 14
Cardiomyopathy, Hypertrophic, 11 Cardiomyopathy, Hypertrophic, 3
Cardiomyopathy, Hypertrophic, 25 Cardiomyopathy, Hypertrophic, 19
Cardiomyopathy, Hypertrophic, 7 Cardiomyopathy, Hypertrophic, 17
Calr3-Related Familial Hypertrophic Cardiomyopathy Jph2-Related Familial Hypertrophic Cardiomyopathy
Actc1-Related Familial Hypertrophic Cardiomyopathy Actn2-Related Familial Hypertrophic Cardiomyopathy
Cav3-Related Hypertrophic Cardiomyopathy Csrp3-Related Familial Hypertrophic Cardiomyopathy
Mybpc3-Related Familial Hypertrophic Cardiomyopathy Myh6-Related Familial Hypertrophic Cardiomyopathy
Myh7-Related Familial Hypertrophic Cardiomyopathy Myl2-Related Familial Hypertrophic Cardiomyopathy
Myl3-Related Familial Hypertrophic Cardiomyopathy Myoz2-Related Familial Hypertrophic Cardiomyopathy
Nexn-Related Familial Hypertrophic Cardiomyopathy Pln-Related Familial Hypertrophic Cardiomyopathy
Tcap-Related Familial Hypertrophic Cardiomyopathy Tnnc1-Related Familial Hypertrophic Cardiomyopathy
Tnni3-Related Familial Hypertrophic Cardiomyopathy Tnnt2-Related Familial Hypertrophic Cardiomyopathy
Tpm1-Related Familial Hypertrophic Cardiomyopathy Ttn-Related Familial Hypertrophic Cardiomyopathy
Vcl-Related Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

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

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, familial hypertrophic, 912.3
2hypertrophic cardiomyopathy11.7
3cardiomyopathy, hypertrophic, 2011.6
4cardiomyopathy, hypertrophic, 211.6
5cardiomyopathy, hypertrophic, 1311.6
6cardiomyopathy, hypertrophic, 811.6
7cardiomyopathy, hypertrophic, 1611.6
8cardiomyopathy, hypertrophic, 1811.6
9cardiomyopathy, hypertrophic 611.6
10cardiomyopathy, hypertrophic, 1211.6
11cardiomyopathy, hypertrophic, 411.6
12cardiomyopathy, hypertrophic, 1011.6
13cardiomyopathy, hypertrophic, 1411.6
14cardiomyopathy, hypertrophic, 1111.6
15cardiomyopathy, hypertrophic, 311.6
16cardiomyopathy, hypertrophic, 711.6
17cardiomyopathy, hypertrophic, 1711.6
18cardiomyopathy, dilated, 1aa, with or without lvnc11.5
19cardiomyopathy, hypertrophic, 1511.5
20cardiomyopathy, hypertrophic, 1911.5
21cardiomyopathy, dilated, 1kk11.4
22cardiomyopathy, dilated, 1c, with or without lvnc11.4
23cardiomyopathy, hypertrophic, 2511.4
24calr3-related familial hypertrophic cardiomyopathy11.2
25vcl-related familial hypertrophic cardiomyopathy11.2
26jph2-related familial hypertrophic cardiomyopathy11.2
27hypercholesterolemia, familial11.0
28hyalinosis systemic short stature10.5MYH6, MYH7
29cardiomyopathy10.4
30tubular renal disease-cardiomyopathy syndrome10.4MYPN, TNNI3, TNNT2
31colon carcinoma in situ10.4TNNI3, TNNT2
32muscular dystrophy, rigid spine, 110.4MYH7, TTN
33symmastia10.3MYH7, TTN
34histiocytosis-lymphadenopathy plus syndrome10.3
35myopathy, myosin storage, autosomal recessive10.3MYH7, SPPM
36gingival recession10.3TNNI3, TNNT2
37dyskeratosis congenita, autosomal dominant 310.3MYH7, SPPM
38liang distal myopathy10.3MYH7, SPPM
39glomerulosclerosis, focal segmental, 510.3MYH7, SPPM
40cardiomyopathy, dilated, 1e10.2MYH7, SPPM
41autoimmune thyroid disease 210.2MYH7, MYPN, TTN
42fitz-hugh-curtis syndrome10.2
43craniosynostosis10.1MYH6, MYH7, TNNI3, TNNT2
44hyperpigmentation with or without hypopigmentation10.1
45transient neonatal thrombocytopenia10.1TNNI3, TNNT2
46cornelia de lange syndrome10.1CAV3, MYH7, TTN
47atrial standstill, digenic10.1MYBPC3, MYH7, MYL3, TNNI3, TNNT2
48rippling muscle disease10.0CAV3, TTN
49chicken egg allergy10.0MYBPC3, MYH7, MYL2, MYL3, TNNT2
50myelodysplastic myeloproliferative cancer10.0CAV3, TTN

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



Diseases related to cardiomyopathy, familial hypertrophic

Symptoms for Cardiomyopathy, Familial Hypertrophic

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Symptoms by clinical synopsis from OMIM:

192600

Clinical features from OMIM:

192600

HPO human phenotypes related to Cardiomyopathy, Familial Hypertrophic:

id Description Frequency HPO Source Accession
1 congestive heart failure HP:0001635
2 asymmetric septal hypertrophy HP:0001670
3 subaortic stenosis HP:0001682
4 abnormality of metabolism/homeostasis HP:0001939
5 arrhythmia HP:0011675

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic

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Drugs for Cardiomyopathy, Familial Hypertrophic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1calcium channel blockersPhase 21889
2
PerhexilinePhase 286621-47-24746
Synonyms:
(+)-2-(2,2-Dicyclohexylethyl)piperidine
(-)-2-(2,2-Dicyclohexylethyl)piperidine
2-(2,2-Dicyclohexylethyl)piperidine
39648-47-0
39648-48-1
6621-47-2
AB00053656
AC1L1IV5
BPBio1_000212
BSPBio_000192
BSPBio_003118
C19H35N
CHEBI:35553
CHEMBL75880
CID4746
D010480
D08340
DB01074
DivK1c_000542
EINECS 229-569-5
EINECS 254-558-7
EINECS 254-559-2
IDI1_000542
KBio1_000542
KBio2_000353
KBio2_002921
KBio2_005489
 
KBio3_002618
KBioGR_000685
KBioSS_000353
LS-176505
MolPort-003-808-309
NINDS_000542
Oprea1_365504
PERHEXILINE
Perhexilene
Perhexilina
Perhexilina [INN-Spanish]
Perhexiline
Perhexiline (INN)
Perhexiline [INN:BAN]
Perhexilinum
Perhexilinum [INN-Latin]
Perhexilline
Prestwick0_000286
Prestwick1_000286
Prestwick2_000286
Prestwick3_000286
SPBio_001358
SPBio_002411
Spectrum2_001539
Spectrum3_001579
Spectrum4_000173
Spectrum5_001084
Spectrum_000013
perhexilline
3carnitineNutraceuticalPhase 2152
4insulin4401
5
Dipyridamole7958-32-23108
Synonyms:
2,6-Bis(diethanolamine)-4,8-dipiperidinopyrimido[5,4-d]pyrimidine
2,6-Bis(diethanolamino)-4,8-dipiperidinopyrimido(5,4-d)pyrimidine
2,6-Bis(diethanolamino)-4,8-dipiperidinopyrimido[5,4-d]pyrimidine
4-26-00-03840 (Beilstein Handbook Reference)
58-32-2
AB00051974
AC-18100
AC1L1F6T
AC1Q7CXU
AC1Q7CXW
AC1Q7CXX
AKOS000509426
Agilease
Anginal
Antistenocardin
Apo-Dipyridamole
Apo-Dipyridamole Fc
Apo-Dipyridamole Sc
Apotex Brand of Dipyridamole
Apricor
Ashbourne Brand of Dipyridamole
BAS 00818792
BIM-0050449.0001
BPBio1_000270
BRD-K86301799-001-04-1
BRN 0068373
BSPBio_000244
BSPBio_001554
BSPBio_001924
Belmac Brand of Dipyridamole
Berlin Chemie Brand of Dipyridamole
Berlin-Chemie Brand of Dipyridamole
Bio-0173
Boehringer Ingelheim Brand of Dipyridamole
C24H40N8O4
CAS-58-32-2
CHEBI:4653
CHEMBL932
CID3108
CPD000058382
Cardioflux
Cardoxil
Cardoxin
Cerebrovase
Chilcolan
Cleridium
Cleridium 150
Coribon
Coridil
Coronarine
Corosan
Coroxin
Curantil
Curantyl
D 9766
D00302
D004176
D2274
D9766_SIGMA
DB00975
Dipiridamol
Dipiridamol [INN-Spanish]
Dipyramidole
Dipyridamine
Dipyridamol
Dipyridamole (JP15/USP/INN)
Dipyridamole [USAN:INN:BAN:JAN]
Dipyridamolum
Dipyridamolum [INN-Latin]
Dipyridan
Dipyudamine
DivK1c_000696
Dypyridamol
EINECS 200-374-7
EU-0100464
Gulliostin
HMS1568M06
HMS1791N16
HMS1920I10
HMS1989N16
HMS2089N15
HMS2091O18
 
HMS502C18
IDI1_000696
IPRAD Brand of Dipyridamole
Iv Persantine
Justpertin
KBio1_000696
KBio2_001484
KBio2_004052
KBio2_006620
KBio3_001144
KBioGR_001123
KBioSS_001484
Kurantil
LS-66732
Lopac-D-9766
Lopac0_000464
MLS000028420
MLS001076306
MLS001333724
Miosen
MolPort-001-792-504
NCGC00015385-01
NCGC00015385-02
NCGC00015385-03
NCGC00015385-07
NCGC00015385-15
NCGC00023914-02
NCGC00023914-04
NCGC00023914-05
NCGC00023914-06
NCGC00023914-07
NCGC00023914-08
NCGC00023914-09
NCGC00023914-10
NCGC00023914-11
NCI60_005689
NINDS_000696
NSC 515776
NSC-515776
NSC515776
Natyl
Novo-Dipiradol
Novopharm Brand of Dipyridamole
Peridamol
Permiltin
Permole, Persantine, Dipyridan, Dipyridamole
Persantin
Persantine
Persantine (TN)
Piroan
Prandiol
Prandiol 75
Prestwick0_000142
Prestwick1_000142
Prestwick2_000142
Prestwick3_000142
Prestwick_145
Protangix
RA 8
RA-8
S1867_Selleck
S1895_Selleck
SAM002264609
SMP2_000208
SMR000058382
SPBio_001003
SPBio_002183
SPECTRUM1500259
Spectrum2_000972
Spectrum3_000402
Spectrum4_000522
Spectrum5_000839
Spectrum_001004
Stenocardil
Stenocardiol
Stimolcardio
Tocris-0691
UNII-64ALC7F90C
UPCMLD-DP072
UPCMLD-DP072:001
Usaf Ge-12
WLN: T66 BN DN GN INJ CCN HCN E- AT6NTJ B2Q F2Q& J- AT6NTJ B2Q F2Q
ZINC00643046
dipyridamole
6pyruvateNutraceutical34

Interventional clinical trials:

(show all 29)
idNameStatusNCT IDPhase
1Effect of Eleclazine (GS-6615) on Exercise Capacity in Subjects With Symptomatic Hypertrophic CardiomyopathyRecruitingNCT02291237Phase 2, Phase 3
2Open-Label Study of Perhexiline in Patients With Hypertrophic Cardiomyopathy and Moderate to Severe Heart FailureRecruitingNCT02862600Phase 2
3Registry and Prevalence of Gene Mutation in Korean Patients With Familial Hypertrophic CardiomyopathyCompletedNCT01792960
4Genetic Analysis of Familial Hypertrophic CardiomyopathyCompletedNCT00005251
5Factors Contributing to Increased Left Ventricle Size in Patients With Abnormally Enlarged HeartsCompletedNCT00001878
6Family Studies of Inherited Heart DiseaseCompletedNCT00001225
7The Perceived Impact of Children s Risk Status for Hypertrophic Cardiomyopathy on Families: an Exploratory StudyCompletedNCT01160536
8Signs and Symptoms of Genetic Abnormalities Linked to Inherited Heart DiseaseCompletedNCT00001881
9Identification of Risk Factors for Arrhythmia in Children and Adolescents With Hypertrophic CardiomyopathyCompletedNCT00753233
10Screening for Inherited Heart DiseaseCompletedNCT00001746
11Study of Muscle Abnormalities in Patients With Specific Genetic MutationsCompletedNCT00001871
12Heart and Skeletal Muscle Problems in NeuroacanthocytosisCompletedNCT00007228
13Signs and Symptoms Associated With Molecular Defects in Genetically Inherited Heart DiseaseCompletedNCT00027196
14New Diagnostic Strategy in Hypertrophic CardiomyopathyRecruitingNCT02520856
15Pediatric Cardiomyopathy Mutation AnalysisRecruitingNCT02432092
16Molecular Genetic Screening and Identification of Congenital Arrhythmogenic DiseasesRecruitingNCT00221832
17Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
18French Hypertrophic Cardiomyopathy ObservatoryRecruitingNCT01091480
19Predictive Factors and Consequences of Myocardial Fibrosis in Hypertrophic CardiomyopathyRecruitingNCT02922517
20Genetic Predictors of Outcome in HCM PatientsRecruitingNCT00156429
21Comparison Between Standard and Ultrasound Integrated Approach for Risk Stratification of Syncope in the Emergency DepartmentRecruitingNCT02781207
22Cardiac Biomarkers in Pediatric Cardiomyopathy (PCM Biomarkers)Active, not recruitingNCT01873976
23Prevalence of Transthyretin Amyloidosis in Hypertrophic CardiomyopathyActive, not recruitingNCT01623245
24Study of Hypertrophic Cardiomyopathy Under Stress Conditions. Concordance Between Two Complementary Tests: Stress MRI and Exercice Stress EchocardiographyActive, not recruitingNCT02500420
25The Genetics of Cardiomyopathy and Heart FailureActive, not recruitingNCT00703443
26Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy MetabolismAvailableNCT01461304
27A Pilot Project Exploring the Impact of Whole Genome Sequencing in HealthcareEnrolling by invitationNCT01736566
28Cardiac Involvement in Adult Patients With Fabry Disease; Relation to Enzyme Replacement TherapyEnrolling by invitationNCT02908724
29Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac ArrhythmiasEnrolling by invitationNCT02413450

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic

Genetic Tests for Cardiomyopathy, Familial Hypertrophic

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Genetic tests related to Cardiomyopathy, Familial Hypertrophic:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 125
2 Asymmetric Septal Hypertrophy25
3 Familial Hypertrophic Cardiomyopathy23 TTN

Anatomical Context for Cardiomyopathy, Familial Hypertrophic

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MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic:

34
Heart, Testes, Skeletal muscle

Animal Models for Cardiomyopathy, Familial Hypertrophic or affiliated genes

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MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053855.9CAV3, JPH2, MYBPC3, MYH6, MYH7, MYL2
2MP:00053695.7CAV3, JPH2, MYBPC3, MYH6, MYH7, MYL2

Publications for Cardiomyopathy, Familial Hypertrophic

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Variations for Cardiomyopathy, Familial Hypertrophic

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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic:

68 (show all 174)
id Symbol AA change Variation ID SNP ID
1CAV3p.Thr64SerVAR_029543rs121909280
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_017750rs121913644
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_019861rs376754645
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_042836rs545585809
162MYH7p.Glu1768LysVAR_042837
163MYH7p.Thr1854MetVAR_042838
164MYH7p.Glu1883LysVAR_042839
165MYH7p.Thr1929MetVAR_042842
166MYH7p.Val763MetVAR_045926
167MYH7p.Arg787CysVAR_045927
168MYH7p.Leu1414MetVAR_045928
169MYH7p.Glu1752LysVAR_072816
170MYH7p.Arg243HisVAR_073876
171MYH7p.Arg453SerVAR_073880
172MYH7p.Glu497AspVAR_073881
173MYLK2p.Ala87ValVAR_014197rs121908107
174MYLK2p.Ala95GluVAR_014198rs121908108

Clinvar genetic disease variations for Cardiomyopathy, Familial Hypertrophic:

5 (show all 140)
id Gene Variation Type Significance SNP ID Assembly Location
1TNNT2NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121964857GRCh37Chr 1, 201328373: 201328373
2MYL3NM_000258.2(MYL3): c.445A> G (p.Met149Val)single nucleotide variantPathogenicrs104893748GRCh37Chr 3, 46901001: 46901001
3MYL3NM_000258.2(MYL3): c.461G> A (p.Arg154His)single nucleotide variantLikely pathogenic, Pathogenicrs104893749GRCh37Chr 3, 46900985: 46900985
4MYH7NM_000257.3(MYH7): c.1208G> A (p.Arg403Gln)single nucleotide variantPathogenicrs121913624GRCh37Chr 14, 23898487: 23898487
5MYH7NM_000257.3(MYH7): c.746G> A (p.Arg249Gln)single nucleotide variantLikely pathogenic, Pathogenicrs3218713GRCh37Chr 14, 23900677: 23900677
6MYH7NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121913625GRCh37Chr 14, 23898214: 23898214
7MYH7NM_000257.3(MYH7): c.1750G> C (p.Gly584Arg)single nucleotide variantLikely pathogenic, Pathogenicrs121913626GRCh37Chr 14, 23896932: 23896932
8MYH7NM_000257.3(MYH7): c.1816G> A (p.Val606Met)single nucleotide variantLikely pathogenic, Pathogenicrs121913627GRCh37Chr 14, 23896866: 23896866
9MYH7NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys)single nucleotide variantLikely pathogenic, Pathogenicrs121913628GRCh37Chr 14, 23893268: 23893268
10MYH7NM_000257.3(MYH7): c.2845G> A (p.Glu949Lys)single nucleotide variantPathogenicrs121913629GRCh37Chr 14, 23893193: 23893193
11MYH7NM_000257.3(MYH7): c.1046T> C (p.Met349Thr)single nucleotide variantPathogenicrs121913640GRCh37Chr 14, 23899076: 23899076
12MYH7NM_000257.3(MYH7): c.2167C> T (p.Arg723Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121913630GRCh37Chr 14, 23895023: 23895023
13MYH7nsv513807deletionPathogenic
14MYH7NM_000257.3(MYH7): c.2722C> G (p.Leu908Val)single nucleotide variantLikely pathogenic, Pathogenicrs121913631GRCh37Chr 14, 23893316: 23893316
15MYH7NM_000257.3(MYH7): c.2221G> C (p.Gly741Arg)single nucleotide variantLikely pathogenic, Pathogenicrs121913632GRCh37Chr 14, 23894969: 23894969
16MYH7NM_000257.3(MYH7): c.767G> A (p.Gly256Glu)single nucleotide variantPathogenicrs121913633GRCh37Chr 14, 23900656: 23900656
17MYH7NM_000257.3(MYH7): c.2333A> G (p.Asp778Gly)single nucleotide variantPathogenicrs121913634GRCh37Chr 14, 23894581: 23894581
18MYH7NM_000257.3(MYH7): c.1208G> T (p.Arg403Leu)single nucleotide variantLikely pathogenic, Pathogenicrs121913624GRCh37Chr 14, 23898487: 23898487
19MYH7NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp)single nucleotide variantLikely pathogenic, Pathogenicrs3218714GRCh37Chr 14, 23898488: 23898488
20MYH7NM_000257.3(MYH7): c.1538T> G (p.Phe513Cys)single nucleotide variantPathogenicrs121913636GRCh37Chr 14, 23897749: 23897749
21MYH7NM_000257.3(MYH7): c.2155C> T (p.Arg719Trp)single nucleotide variantPathogenicrs121913637GRCh37Chr 14, 23895180: 23895180
22MYH7NM_000257.3(MYH7): c.2146G> A (p.Gly716Arg)single nucleotide variantLikely pathogenic, Pathogenicrs121913638GRCh37Chr 14, 23895189: 23895189
23MYH7NM_000257.3(MYH7): c.2803G> A (p.Glu935Lys)single nucleotide variantPathogenicrs121913639GRCh37Chr 14, 23893235: 23893235
24MYH7NM_000257.3(MYH7): c.2156G> A (p.Arg719Gln)single nucleotide variantLikely pathogenic, Pathogenicrs121913641GRCh37Chr 14, 23895179: 23895179
25MYH7NM_000257.3(MYH7): c.2183C> T (p.Ala728Val)single nucleotide variantPathogenicrs121913644GRCh37Chr 14, 23895007: 23895007
26NM_000257.3(MYH7): c.5134C> T (p.Arg1712Trp)single nucleotide variantLikely pathogenic, Pathogenicrs121913650GRCh37Chr 14, 23884861: 23884861
27MYH7NM_000257.3(MYH7): c.1447G> A (p.Glu483Lys)single nucleotide variantPathogenicrs121913651GRCh37Chr 14, 23897840: 23897840
28MYH7NM_000257.3(MYH7): c.2609G> A (p.Arg870His)single nucleotide variantLikely pathogenic, Pathogenicrs36211715GRCh37Chr 14, 23894048: 23894048
29MYH7NM_000257.3(MYH7): c.1322C> T (p.Thr441Met)single nucleotide variantPathogenicrs121913653GRCh37Chr 14, 23898249: 23898249
30MYH7NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro)single nucleotide variantLikely pathogenic, Pathogenicrs121913654GRCh37Chr 14, 23884385: 23884385
31MYH7NM_000257.3(MYH7): c.1491G> T (p.Glu497Asp)single nucleotide variantLikely pathogenic, Pathogenicrs267606911GRCh37Chr 14, 23897796: 23897796
32MYH7NM_000257.3(MYH7): c.2717A> G (p.Asp906Gly)single nucleotide variantLikely pathogenic, Pathogenicrs267606908GRCh37Chr 14, 23893321: 23893321
33MYH7NM_000257.3(MYH7): c.728G> A (p.Arg243His)single nucleotide variantPathogenicrs267606910GRCh37Chr 14, 23900798: 23900798
34MYH7NM_000257.3(MYH7): c.1357C> A (p.Arg453Ser)single nucleotide variantPathogenicrs121913625GRCh37Chr 14, 23898214: 23898214
35MYBPC3NM_000256.3(MYBPC3): c.3190+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs587782958GRCh38Chr 11, 47333552: 47333552
36MYH7NM_000257.3(MYH7): c.2608C> T (p.Arg870Cys)single nucleotide variantLikely pathogenic, Pathogenicrs138049878GRCh37Chr 14, 23894049: 23894049
37MYBPC3NM_000256.3(MYBPC3): c.3642G> A (p.Trp1214Ter)single nucleotide variantLikely pathogenic, Pathogenicrs368765949GRCh37Chr 11, 47353795: 47353795
38MYBPC3NM_000256.3(MYBPC3): c.1484G> A (p.Arg495Gln)single nucleotide variantLikely pathogenic, Pathogenicrs200411226GRCh38Chr 11, 47342718: 47342718
39NM_000257.3(MYH7): c.4498C> T (p.Arg1500Trp)single nucleotide variantLikely pathogenic, Pathogenicrs45544633GRCh37Chr 14, 23886383: 23886383
40MYH7NM_000257.3(MYH7): c.2207T> C (p.Ile736Thr)single nucleotide variantLikely pathogenic, Pathogenicrs727503261GRCh37Chr 14, 23894983: 23894983
41MYH7NM_000257.3(MYH7): c.1954A> G (p.Arg652Gly)single nucleotide variantLikely pathogenic, Pathogenicrs727504239GRCh37Chr 14, 23896451: 23896451
42MYBPC3NM_000256.3(MYBPC3): c.2780_2781delCA (p.Thr927Ilefs)deletionPathogenicrs727504265GRCh37Chr 11, 47356717: 47356718
43MYH7NM_000257.3(MYH7): c.2221G> T (p.Gly741Trp)single nucleotide variantLikely pathogenic, Pathogenicrs121913632GRCh37Chr 14, 23894969: 23894969
44MYH7NM_000257.3(MYH7): c.3346G> A (p.Glu1116Lys)single nucleotide variantLikely pathogenic, Pathogenicrs727504274GRCh37Chr 14, 23889434: 23889434
45MYBPC3NM_000256.3(MYBPC3): c.1210C> T (p.Gln404Ter)single nucleotide variantPathogenicrs727504329GRCh37Chr 11, 47365056: 47365056
46MYH7NM_000257.3(MYH7): c.1477_1478delAT (p.Met493Valfs)deletionPathogenicrs727504336GRCh37Chr 14, 23897809: 23897810
47MYBPC3NM_000256.3(MYBPC3): c.2394dupT (p.Gly799Trpfs)duplicationLikely pathogenic, Pathogenicrs730880341GRCh37Chr 11, 47359260: 47359260
48MYH7NM_000257.3(MYH7): c.1324C> T (p.Arg442Cys)single nucleotide variantPathogenicrs148808089GRCh37Chr 14, 23898247: 23898247
49MYBPC3NM_000256.3(MYBPC3): c.1829A> T (p.Asp610Val)single nucleotide variantPathogenicrs730880554GRCh38Chr 11, 47341206: 47341206
50MYBPC3NM_000256.3(MYBPC3): c.1595delG (p.Gly532Alafs)deletionPathogenicrs730880640GRCh38Chr 11, 47342607: 47342607
51MYBPC3NM_000256.3(MYBPC3): c.1838dupA (p.Asp613Glufs)duplicationLikely pathogenic, Pathogenicrs730880649GRCh37Chr 11, 47362748: 47362748
52MYBPC3NM_000256.3(MYBPC3): c.1028delC (p.Thr343Metfs)deletionPathogenicrs730880686GRCh38Chr 11, 47346269: 47346269
53MYH7NM_000257.3(MYH7): c.2191C> T (p.Pro731Ser)single nucleotide variantLikely pathogenic, Pathogenicrs727504299GRCh37Chr 14, 23894999: 23894999
54MYH7NM_000257.3(MYH7): c.2536G> C (p.Glu846Gln)single nucleotide variantPathogenicrs730880748GRCh37Chr 14, 23894121: 23894121
55MYH7NM_000257.3(MYH7): c.2858A> T (p.Asp953Val)single nucleotide variantPathogenicrs730880901GRCh38Chr 14, 23423971: 23423971
56MYH7NM_000257.3(MYH7): c.740T> G (p.Phe247Cys)single nucleotide variantPathogenicrs730880922GRCh38Chr 14, 23431474: 23431474
57TNNI3NM_000363.4(TNNI3): c.407G> A (p.Arg136Gln)single nucleotide variantLikely pathogenic, Pathogenicrs730881069GRCh38Chr 19, 55154172: 55154172
58MYH7NM_000257.3(MYH7): c.2334C> A (p.Asp778Glu)single nucleotide variantLikely pathogenicrs2069544GRCh38Chr 14, 23425371: 23425371
59TCAPNM_003673.3(TCAP): c.208C> T (p.Arg70Trp)single nucleotide variantPathogenicrs775636212GRCh37Chr 17, 37822066: 37822066
60MYH7NM_000257.3(MYH7): c.1478T> A (p.Met493Lys)single nucleotide variantLikely pathogenicrs786205905GRCh37Chr 14, 23897809: 23897809
61MYBPC3NM_000256.3(MYBPC3): c.2065C> T (p.Gln689Ter)single nucleotide variantLikely pathogenic, Pathogenicrs863224483GRCh38Chr 11, 47339653: 47339653
62NM_000257.3(MYH7): c.4992C> A (p.Asn1664Lys)single nucleotide variantLikely pathogenicrs763538103GRCh37Chr 14, 23885003: 23885003
63MYH7NM_000257.3(MYH7): c.2655T> A (p.Asn885Lys)single nucleotide variantLikely pathogenicrs863225095GRCh37Chr 14, 23894002: 23894002
64MYH7NM_000257.3(MYH7): c.3645G> C (p.Gln1215His)single nucleotide variantLikely pathogenicrs863225096GRCh37Chr 14, 23889135: 23889135
65MYH7NM_000257.3(MYH7): c.2201A> C (p.Gln734Pro)single nucleotide variantLikely pathogenicrs863225097GRCh37Chr 14, 23894989: 23894989
66MYH7NM_000257.3(MYH7): c.3358G> A (p.Glu1120Lys)single nucleotide variantLikely pathogenicrs863225098GRCh37Chr 14, 23889422: 23889422
67MYH7NM_000257.3(MYH7): c.2542_2544delGAG (p.Glu848del)deletionLikely pathogenicrs863225099GRCh38Chr 14, 23424904: 23424906
68MYH7NM_000257.3(MYH7): c.2893G> A (p.Glu965Lys)single nucleotide variantLikely pathogenicrs863225100GRCh37Chr 14, 23893145: 23893145
69MYH7NM_000257.3(MYH7): c.5422G> A (p.Gly1808Ser)single nucleotide variantLikely pathogenicrs369940645GRCh37Chr 14, 23884341: 23884341
70NM_000257.3(MYH7): c.4571A> G (p.His1524Arg)single nucleotide variantLikely pathogenicrs767148171GRCh38Chr 14, 23416941: 23416941
71MYH7NM_000257.3(MYH7): c.2104A> G (p.Ile702Val)single nucleotide variantLikely pathogenicrs863225101GRCh37Chr 14, 23895231: 23895231
72MYH7NM_000257.3(MYH7): c.1479G> C (p.Met493Ile)single nucleotide variantLikely pathogenicrs730880876GRCh37Chr 14, 23897808: 23897808
73MYH7NM_000257.3(MYH7): c.755T> G (p.Phe252Cys)single nucleotide variantLikely pathogenicrs727505202GRCh37Chr 14, 23900668: 23900668
74MYH7NM_000257.3(MYH7): c.2291T> A (p.Phe764Tyr)single nucleotide variantLikely pathogenicrs863225102GRCh37Chr 14, 23894623: 23894623
75MYH7NM_000257.3(MYH7): c.2524A> G (p.Ser842Gly)single nucleotide variantLikely pathogenicrs863225103GRCh37Chr 14, 23894133: 23894133
76MYBPC3NM_000256.3(MYBPC3): c.1302C> A (p.Tyr434Ter)single nucleotide variantPathogenicrs190228518GRCh38Chr 11, 47343070: 47343070
77MYH6NM_002471.3(MYH6): c.3192dupC (p.Gln1065Profs)duplicationPathogenicrs863225269GRCh37Chr 14, 23862180: 23862180
78MYBPC3NM_000256.3(MYBPC3): c.1359delT (p.Val454Cysfs)deletionPathogenicrs863225271GRCh38Chr 11, 47342928: 47342928
79MYBPC3NM_000256.3(MYBPC3): c.3712_3713delCT (p.Leu1238Glyfs)deletionPathogenicrs863225272GRCh38Chr 11, 47332173: 47332174
80MYBPC3NM_000256.3(MYBPC3): c.1091-?_2308+?deldeletionPathogenic
81MYBPC3NM_000256.3(MYBPC3): c.162delG (p.Lys54Asnfs)deletionPathogenicrs864622224GRCh37Chr 11, 47372920: 47372920
82PMPCANM_015160.2(PMPCA): c.1129G> A (p.Ala377Thr)single nucleotide variantPathogenicrs753611141GRCh38Chr 9, 136418847: 136418847
83PMPCANM_015160.2(PMPCA): c.1066G> A (p.Gly356Ser)single nucleotide variantPathogenicrs768643552GRCh37Chr 9, 139313082: 139313082
84MYBPC3NM_000256.3(MYBPC3): c.1236dupT (p.Glu413Terfs)duplicationPathogenicrs878853830GRCh37Chr 11, 47364687: 47364687
85MYBPC3NM_000256.3(MYBPC3): c.1633_1640delCTGGAGGT (p.Leu545Valfs)deletionPathogenicrs878853831GRCh38Chr 11, 47342141: 47342148
86MYBPC3NM_000256.3(MYBPC3): c.2234A> G (p.Asp745Gly)single nucleotide variantPathogenicrs727503190GRCh37Chr 11, 47360145: 47360145
87MYBPC3NM_000256.3(MYBPC3): c.2618C> A (p.Pro873His)single nucleotide variantLikely pathogenic, Pathogenicrs371401403GRCh37Chr 11, 47357547: 47357547
88JPH2NM_020433.4(JPH2): c.1513G> A (p.Gly505Ser)single nucleotide variantPathogenicrs140740776GRCh37Chr 20, 42744802: 42744802
89CALR3NM_145046.4(CALR3): c.245A> G (p.Lys82Arg)single nucleotide variantPathogenicrs142951029GRCh37Chr 19, 16601330: 16601330
90MYL3NM_000258.2(MYL3): c.170C> G (p.Ala57Gly)single nucleotide variantPathogenicrs139794067GRCh37Chr 3, 46902303: 46902303
91TPM1NM_001018005.1(TPM1): c.644C> T (p.Ser215Leu)single nucleotide variantLikely pathogenic, Pathogenicrs199476316GRCh37Chr 15, 63354418: 63354418
92TPM1NM_001018005.1(TPM1): c.842T> C (p.Met281Thr)single nucleotide variantLikely pathogenic, Pathogenicrs199476321GRCh37Chr 15, 63356332: 63356332
93MYBPC3NM_000256.3(MYBPC3): c.2308G> A (p.Asp770Asn)single nucleotide variantLikely pathogenic, Pathogenicrs36211723GRCh37Chr 11, 47360071: 47360071
94MYBPC3NM_000256.3(MYBPC3): c.2374T> C (p.Trp792Arg)single nucleotide variantLikely pathogenic, Pathogenicrs187830361GRCh37Chr 11, 47359280: 47359280
95MYBPC3NM_000256.3(MYBPC3): c.1235_1236delTT (p.Phe412Terfs)deletionPathogenicrs397515894GRCh37Chr 11, 47364687: 47364688
96MYBPC3NM_000256.3(MYBPC3): c.1468G> A (p.Gly490Arg)single nucleotide variantPathogenicrs200625851GRCh37Chr 11, 47364285: 47364285
97MYBPC3NM_000256.3(MYBPC3): c.1504C> T (p.Arg502Trp)single nucleotide variantPathogenicrs375882485GRCh37Chr 11, 47364249: 47364249
98MYBPC3NM_000256.3(MYBPC3): c.1505G> A (p.Arg502Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397515907GRCh37Chr 11, 47364248: 47364248
99MYBPC3NM_000256.3(MYBPC3): c.1624+4A> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs397515916GRCh37Chr 11, 47364125: 47364125
100MYBPC3NM_000256.3(MYBPC3): c.1928-2A> Gsingle nucleotide variantPathogenicrs397515937GRCh37Chr 11, 47361343: 47361343
101MYBPC3NM_000256.3(MYBPC3): c.2096delC (p.Pro699Glnfs)deletionPathogenicrs397515947GRCh37Chr 11, 47360927: 47360927
102MYBPC3NM_000256.3(MYBPC3): c.2113dupA (p.Thr705Asnfs)duplicationPathogenicrs397515948GRCh37Chr 11, 47360910: 47360910
103MYBPC3NM_000256.3(MYBPC3): c.2308+1G> Tsingle nucleotide variantPathogenicrs112738974GRCh37Chr 11, 47360070: 47360070
104MYBPC3NM_000256.3(MYBPC3): c.2373dupG (p.Trp792Valfs)duplicationPathogenicrs397515963GRCh37Chr 11, 47359281: 47359281
105MYBPC3NM_000256.3(MYBPC3): c.2490dupT (p.His831Serfs)duplicationLikely pathogenic, Pathogenicrs397515966GRCh37Chr 11, 47359054: 47359054
106MYBPC3NM_000256.3(MYBPC3): c.2524dupT (p.Tyr842Leufs)duplicationPathogenicrs397515970GRCh37Chr 11, 47359020: 47359020
107MYBPC3NM_000256.3(MYBPC3): c.2670G> A (p.Trp890Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397515982GRCh37Chr 11, 47357495: 47357495
108MYBPC3NM_000256.3(MYBPC3): c.2864_2865delCT (p.Pro955Argfs)deletionLikely pathogenic, Pathogenicrs397515990GRCh37Chr 11, 47356633: 47356634
109MYBPC3NM_000256.3(MYBPC3): c.2905+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397515991GRCh37Chr 11, 47356592: 47356592
110MYBPC3NM_000256.3(MYBPC3): c.2905C> T (p.Gln969Ter)single nucleotide variantPathogenicrs397515992GRCh37Chr 11, 47356593: 47356593
111MYBPC3NM_000256.3(MYBPC3): c.3192dupC (p.Lys1065Glnfs)duplicationPathogenicrs397516007GRCh37Chr 11, 47354883: 47354883
112MYBPC3NM_000256.3(MYBPC3): c.3330+5G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs373746463GRCh37Chr 11, 47354740: 47354740
113MYBPC3NM_000256.3(MYBPC3): c.3624delC (p.Lys1209Serfs)deletionPathogenicrs397516030GRCh37Chr 11, 47354120: 47354120
114MYBPC3NM_000256.3(MYBPC3): c.3697C> T (p.Gln1233Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516037GRCh37Chr 11, 47353740: 47353740
115MYBPC3NM_000256.3(MYBPC3): c.655G> C (p.Val219Leu)single nucleotide variantLikely pathogenic, Pathogenicrs397516068GRCh37Chr 11, 47370092: 47370092
116MYBPC3NM_000256.3(MYBPC3): c.772+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397516072GRCh37Chr 11, 47369974: 47369974
117MYBPC3NM_000256.3(MYBPC3): c.821+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397516073GRCh37Chr 11, 47369407: 47369407
118MYBPC3NM_000256.3(MYBPC3): c.772G> A (p.Glu258Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397516074GRCh37Chr 11, 47369975: 47369975
119MYH7NM_000257.3(MYH7): c.1358G> A (p.Arg453His)single nucleotide variantLikely pathogenic, Pathogenicrs397516101GRCh37Chr 14, 23898213: 23898213
120MYH7NM_000257.3(MYH7): c.1750G> A (p.Gly584Ser)single nucleotide variantPathogenicrs121913626GRCh37Chr 14, 23896932: 23896932
121MYH7NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys)single nucleotide variantLikely pathogenic, Pathogenicrs397516127GRCh37Chr 14, 23896043: 23896043
122MYH7NM_000257.3(MYH7): c.1988G> A (p.Arg663His)single nucleotide variantLikely pathogenic, Pathogenicrs371898076GRCh37Chr 14, 23896042: 23896042
123MYH7NM_000257.3(MYH7): c.2093T> C (p.Val698Ala)single nucleotide variantPathogenicrs397516130GRCh37Chr 14, 23895242: 23895242
124MYH7NM_000257.3(MYH7): c.2167C> G (p.Arg723Gly)single nucleotide variantLikely pathogenic, Pathogenicrs121913630GRCh37Chr 14, 23895023: 23895023
125MYH7NM_000257.3(MYH7): c.2221G> A (p.Gly741Arg)single nucleotide variantLikely pathogenic, Pathogenicrs121913632GRCh37Chr 14, 23894969: 23894969
126MYH7NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr)single nucleotide variantLikely pathogenic, Pathogenicrs3218716GRCh37Chr 14, 23894525: 23894525
127MYH7NM_000257.3(MYH7): c.3578G> A (p.Arg1193His)single nucleotide variantLikely pathogenic, Pathogenicrs397516187GRCh37Chr 14, 23889202: 23889202
128MYH7NM_000257.3(MYH7): c.4135G> A (p.Ala1379Thr)single nucleotide variantLikely pathogenic, Pathogenicrs397516202GRCh37Chr 14, 23887453: 23887453
129MYH7NM_000257.3(MYH7): c.428G> A (p.Arg143Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397516209GRCh37Chr 14, 23901922: 23901922
130MYH7NM_000257.3(MYH7): c.438G> T (p.Lys146Asn)single nucleotide variantLikely pathogenic, Pathogenicrs397516212GRCh37Chr 14, 23901912: 23901912
131MYH7NM_000257.3(MYH7): c.5401G> A (p.Glu1801Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397516248GRCh37Chr 14, 23884362: 23884362
132MYH7NM_000257.3(MYH7): c.715G> A (p.Asp239Asn)single nucleotide variantLikely pathogenic, Pathogenicrs397516264GRCh37Chr 14, 23900811: 23900811
133MYH7NM_000257.3(MYH7): c.788T> C (p.Ile263Thr)single nucleotide variantLikely pathogenic, Pathogenicrs397516269GRCh37Chr 14, 23900635: 23900635
134MYL3NM_000258.2(MYL3): c.460C> T (p.Arg154Cys)single nucleotide variantPathogenicrs143852164GRCh37Chr 3, 46900986: 46900986
135TNNI3NM_000363.4(TNNI3): c.434G> A (p.Arg145Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397516349GRCh37Chr 19, 55665513: 55665513
136TNNI3NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397516354GRCh37Chr 19, 55665462: 55665462
137TNNI3NM_000363.4(TNNI3): c.557G> A (p.Arg186Gln)single nucleotide variantPathogenicrs397516357GRCh37Chr 19, 55663278: 55663278
138TNNT2NM_000364.3(TNNT2): c.877C> T (p.Arg293Cys)single nucleotide variantLikely pathogenic, Pathogenicrs367785431GRCh37Chr 1, 201328349: 201328349
139MYBPC3NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln)single nucleotide variantLikely pathogenic, Pathogenicrs121909374GRCh37Chr 11, 47364129: 47364129
140MYBPC3NM_000256.3(MYBPC3): c.3330+2T> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs387906397GRCh37Chr 11, 47354743: 47354743

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic

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

Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic

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Pathways related to Cardiomyopathy, Familial Hypertrophic according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathwaysScoreTop Affiliating Genes
19.8MYH7, MYL2
29.5MYH6, MYH7, MYL2
3
Show member pathways
9.2MYL2, MYL3, MYLK, MYLK2
4
Show member pathways
9.1MYH6, MYH7, MYL2, MYL3
59.1MYH6, MYH7, MYL2, MYL3
69.0MYL3, TNNI3, TNNT2
7
Show member pathways
8.9MYH6, MYH7, MYL2, MYL3, MYLK
8
Show member pathways
8.9MYH6, MYH7, MYL2, MYL3, MYLK
9
Show member pathways
8.7MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2
10
Show member pathways
8.7MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2
118.6MYH6, MYL2, TNNI3, TNNT2
128.0MYH6, MYH7, MYL2, MYL3, TNNI3, TNNT2
13
Show member pathways
7.6MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2
14
Show member pathways
7.5MYBPC3, MYH6, MYH7, MYL2, MYL3, TNNI3
157.3MYBPC3, MYH6, MYL2, MYL3, TCAP, TNNI3
16
Show member pathways
6.8CAV3, MYBPC3, MYH6, MYL2, MYL3, MYLK

GO Terms for genes affiliated with Cardiomyopathy, Familial Hypertrophic

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Cellular components related to Cardiomyopathy, Familial Hypertrophic according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1myosin filamentGO:003298210.7MYH6, MYH7
2stress fiberGO:000172510.3MYH6, MYH7, MYLK
3troponin complexGO:000586110.1TNNI3, TNNT2
4A bandGO:003167210.1MYBPC3, MYL2, MYL3
5muscle myosin complexGO:000585910.0MYH6, MYH7, MYL3, TTN
6myosin complexGO:00164599.7MYH6, MYH7, MYL2, MYL3
7I bandGO:00316749.5MYL3, MYPN, TCAP, TTN
8myofibrilGO:00300168.8MYH6, MYH7, MYL2, TNNI3, TNNT2
9Z discGO:00300187.9CAV3, JPH2, MYH6, MYH7, MYOZ2, MYPN
10sarcomereGO:00300177.6MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2
11cytosolGO:00058296.4CAV3, JPH2, MYBPC3, MYH6, MYL2, MYL3

Biological processes related to Cardiomyopathy, Familial Hypertrophic according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1regulation of muscle filament slidingGO:003297110.6MYBPC3, MYLK2
2skeletal muscle thin filament assemblyGO:003024010.3TCAP, TTN
3skeletal muscle myosin thick filament assemblyGO:003024110.3TCAP, TTN
4sarcomerogenesisGO:004876910.3TCAP, TTN
5cardiac muscle hypertrophyGO:000330010.1TCAP, TTN
6cardiac muscle hypertrophy in response to stressGO:001489810.1MYH6, MYH7, TCAP
7cardiac muscle tissue morphogenesisGO:005500810.0MYLK2, TCAP, TTN
8skeletal muscle contractionGO:000300910.0MYH7, TCAP, TNNI3
9adult heart developmentGO:000751210.0MYH6, MYH7, TCAP
10regulation of muscle contractionGO:00069379.9TNNI3, TNNT2
11detection of muscle stretchGO:00359959.9CAV3, TCAP, TTN
12regulation of striated muscle contractionGO:00069429.9MYBPC3, MYL2, MYL3
13heart contractionGO:00600479.8MYL2, TNNI3
14cardiac muscle fiber developmentGO:00487399.8MYH6, TCAP, TTN
15negative regulation of ATPase activityGO:00327809.8TNNI3, TNNT2
16regulation of heart rateGO:00020279.8CAV3, MYH6, MYH7
17striated muscle contractionGO:00069419.7MYH6, MYH7, MYLK2, TNNI3, TTN
18cardiac myofibril assemblyGO:00550039.6MYL2, TCAP, TTN
19regulation of the force of heart contractionGO:00020269.5MYH6, MYH7, MYL2, MYL3
20sarcomere organizationGO:00452149.4MYH6, MYPN, TCAP, TTN
21regulation of heart contractionGO:00080169.3CAV3, MYH6, TNNT2
22positive regulation of ATPase activityGO:00327819.0MYBPC3, MYL3, TNNT2
23ventricular cardiac muscle tissue morphogenesisGO:00550108.2MYBPC3, MYH6, MYH7, MYL2, MYL3, TNNI3
24muscle contractionGO:00069368.1CAV3, MYH6, MYH7, MYLK, TNNT2, TTN
25muscle filament slidingGO:00300497.3MYBPC3, MYH6, MYH7, MYL2, MYL3, TCAP
26cardiac muscle contractionGO:00600487.1MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2

Molecular functions related to Cardiomyopathy, Familial Hypertrophic according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1myosin light chain kinase activityGO:000468710.7MYLK, MYLK2
2microfilament motor activityGO:000014610.6MYH6, MYH7
3actin-dependent ATPase activityGO:003089810.6MYH6, MYH7
4titin bindingGO:003143210.3MYBPC3, TCAP
5muscle alpha-actinin bindingGO:005137110.2MYPN, TTN
6myosin heavy chain bindingGO:003203610.1MYBPC3, MYL2
7actin monomer bindingGO:000378510.0MYL2, MYL3
8troponin C bindingGO:00301729.9TNNI3, TNNT2
9telethonin bindingGO:00314339.9MYOZ2, TTN
10calmodulin bindingGO:00055169.4MYH6, MYH7, MYLK, MYLK2, TTN
11structural constituent of muscleGO:00083078.5MYBPC3, MYL2, MYL3, TCAP, TTN
12actin bindingGO:00037797.3MYBPC3, MYH6, MYH7, MYLK, MYOZ2, MYPN

Sources for Cardiomyopathy, Familial Hypertrophic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet