CMH10
MCID: CRD087
MIFTS: 36

Cardiomyopathy, Familial Hypertrophic, 10 (CMH10)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 10

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 10:

Name: Cardiomyopathy, Familial Hypertrophic, 10 57 12 13 70
Cmh10 57 12 72
Familial Hypertrophic Cardiomyopathy 10 29 6
Cardiomyopathy, Hypertrophic, 10 57 29
Hypertrophic Cardiomyopathy 10 12 15
Familial Hypertrophic Cardiomyopathy with Mid-Left Ventricular Chamber Type 2 72
Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2 57
Cardiomyopathy, Hypertrophic, Familial, Type 10 39
Cardiomyopathy, Familial Hypertrophic 10 72
Mvc2 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
early onset in some patients
premature fatigue on exertion
reduced penetrance is present in some families
some affected individuals may be asymptomatic
marked variability in severity of phenotype


HPO:

31
cardiomyopathy, familial hypertrophic, 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110316
OMIM® 57 608758
OMIM Phenotypic Series 57 PS192600
MeSH 44 D024741
MedGen 41 C1834460
UMLS 70 C1834460

Summaries for Cardiomyopathy, Familial Hypertrophic, 10

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, familial hypertrophic 10: 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. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 10, also known as cmh10, is related to atrial standstill 1 and hypertrophic cardiomyopathy, and has symptoms including dyspnea, chest pain and dizziness. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 10 is MYL2 (Myosin Light Chain 2), and among its related pathways/superpathways is Dilated cardiomyopathy. Affiliated tissues include skeletal muscle and heart, and related phenotypes are sudden cardiac death and ventricular fibrillation

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in mutation in the MYL2 gene.

More information from OMIM: 608758 PS192600

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 10

Diseases in the Hypertrophic Cardiomyopathy family:

Cardiomyopathy, Familial Hypertrophic, 2 Cardiomyopathy, Familial Hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic, 1
Cardiomyopathy, Infantile Hypertrophic Cardiomyopathy, Familial Hypertrophic, 6
Cardiomyopathy, Familial Hypertrophic, 25 Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 10 Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 12 Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 14 Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyopathy, Familial Hypertrophic, 7 Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 16 Cardiomyopathy, Familial Hypertrophic, 17
Cardiomyopathy, Familial Hypertrophic, 18 Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Familial Hypertrophic, 21 Cardiomyopathy, Familial Hypertrophic, 26
Cardiomyopathy, Familial Hypertrophic 27 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training
Rare Familial Disorder with Hypertrophic Cardiomyopathy

Diseases related to Cardiomyopathy, Familial Hypertrophic, 10 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 29.0 MYL2 LOC114827850 ACE
2 hypertrophic cardiomyopathy 28.9 MYL2 LOC114827850 ACE
3 thalassemia 10.0
4 intrinsic cardiomyopathy 9.8 MYL2 ACE
5 heart conduction disease 9.7 MYL2 ACE
6 cardiomyopathy, familial hypertrophic, 1 9.7 MYL2 LOC114827850
7 left ventricular noncompaction 9.6 MYL2 ACE
8 familial isolated restrictive cardiomyopathy 9.5 MYL2 LOC114827850
9 restrictive cardiomyopathy 9.4 MYL2 LOC114827850 ACE

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 10:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 10

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 10

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 10:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 occasional (7.5%) HP:0001645
2 ventricular fibrillation 31 occasional (7.5%) HP:0001663
3 supraventricular tachycardia 31 occasional (7.5%) HP:0004755
4 left ventricular hypertrophy 31 HP:0001712
5 dyspnea 31 HP:0002094
6 vertigo 31 HP:0002321
7 chest pain 31 HP:0100749
8 ventricular tachycardia 31 HP:0004756
9 palpitations 31 HP:0001962
10 t-wave inversion 31 HP:0010872
11 ventricular septal hypertrophy 31 HP:0005144
12 asymmetric septal hypertrophy 31 HP:0001670

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory:
dyspnea

Neurologic Central Nervous System:
dizziness

Cardiovascular Heart:
chest pain
palpitations
asymmetric septal hypertrophy
ventricular fibrillation (in some patients)
supraventricular tachycardia (in some patients)
more
Muscle Soft Tissue:
subsarcolemmal accumulations of cytochrome oxidase-positive mitochondria (in some patients)
myopathic changes seen on biopsy (in some patients)
ragged red fiber pattern seen on biopsy (in some patients)

Clinical features from OMIM®:

608758 (Updated 20-May-2021)

UMLS symptoms related to Cardiomyopathy, Familial Hypertrophic, 10:


dyspnea; chest pain; dizziness

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 10

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 10

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 10

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 10:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 10 29 MYL2
2 Cardiomyopathy, Hypertrophic, 10 29

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 10

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 10:

40
Skeletal Muscle, Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 10

Articles related to Cardiomyopathy, Familial Hypertrophic, 10:

(show all 46)
# Title Authors PMID Year
1
Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. 6 57
12404107 2002
2
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. 6 57
9535554 1998
3
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. 57 6
8673105 1996
4
A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder. 6
28223422 2017
5
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 6
27532257 2017
6
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers. 6
26497160 2016
7
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 6
26914223 2016
8
Molecular and Functional Effects of a Splice Site Mutation in the MYL2 Gene Associated with Cardioskeletal Myopathy and Early Cardiac Death in Infants. 6
27378946 2016
9
Myosin regulatory light chain phosphorylation enhances cardiac β-myosin in vitro motility under load. 6
26116789 2015
10
Impact of familial hypertrophic cardiomyopathy-linked mutations in the NH2 terminus of the RLC on β-myosin cross-bridge mechanics. 6
25324513 2014
11
Genetics of hypertrophic cardiomyopathy in Norway. 6
24111713 2014
12
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 6
24793961 2014
13
Diversity and similarity of motor function and cross-bridge kinetics in papillary muscles of transgenic mice carrying myosin regulatory light chain mutations D166V and R58Q. 6
23727233 2013
14
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 6
23283745 2013
15
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. 6
23365102 2013
16
Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosin. 6
21723297 2011
17
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 6
21310275 2011
18
Cardiomyopathy-linked myosin regulatory light chain mutations disrupt myosin strain-dependent biochemistry. 6
20855589 2010
19
Diastolic dysfunction in familial hypertrophic cardiomyopathy transgenic model mice. 6
19150977 2009
20
Myosin regulatory light chain E22K mutation results in decreased cardiac intracellular calcium and force transients. 6
17606808 2007
21
The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice. 6
16076902 2005
22
Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction. 6
14594949 2004
23
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 6
12818575 2003
24
Mechanical defects of muscle fibers with myosin light chain mutants that cause cardiomyopathy. 6
12668451 2003
25
Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations. 6
11748309 2001
26
Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation. 6
11102452 2001
27
Nuclear factor-kappa B predicts long-term clinical outcome in patients with hypertrophic cardiomyopathy: 10-year follow-up study. 61
33760096 2021
28
Traditional and innovative echocardiographic parameters for the analysis of right ventricular performance in comparison with cardiac magnetic resonance. 61
25187607 2015
29
Defining left ventricular noncompaction using cardiac computed tomography. 61
23689383 2014
30
[Friedreich ataxia and diabetes mellitus--family study]. 61
16684489 2005
31
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. 61
10586172 1999
32
Coronary vasodilator reserve in primary and secondary left ventricular hypertrophy. A study with positron emission tomography. 61
9049522 1997
33
Impaired response of left ventricular relaxation to exercise-induced adrenergic stimulation in patients with hypertrophic cardiomyopathy. 61
8962560 1996
34
[Initial experience with the surgical treatment of hypertrophic cardiopathy using an apico-aortic valved conduit]. 61
8753952 1996
35
A double-blind, placebo-controlled crossover trial of nadolol and verapamil in mild and moderately symptomatic hypertrophic cardiomyopathy. 61
8496536 1993
36
Anticardiac antibodies in hypertrophic cardiomyopathy as a marker of severity. 61
1409212 1992
37
[Apical hypertrophic cardiomyopathy: variability of bidimensional echocardiographic and electrocardiographic expression]. 61
2767373 1989
38
Doppler echocardiographic approach to the blood flow of the left anterior descending coronary artery. 61
3152442 1988
39
Intraventricular flow during isovolumic relaxation: description and characterization by Doppler echocardiography. 61
3624661 1987
40
Pathogenetic role of myocardial fiber disarray in the progression of cardiac fibrosis in normal hearts, hypertensive hearts and hearts with hypertrophic cardiomyopathy. 61
2959802 1987
41
Left ventricular diastolic function in hypertrophic cardiomyopathy: assessment by radionuclide angiography. 61
3583457 1987
42
Quantitative analysis of myocardial fibrosis in normals, hypertensive hearts, and hypertrophic cardiomyopathy. 61
3718796 1986
43
The distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: comparison to athletes and hypertensives. 61
2934251 1985
44
[Lack of correlation between HLA haplotypes and familial hypertrophic cardiomyopathy]. 61
2931319 1985
45
Histopathological specificity of hypertrophic obstructive cardiomyopathy. Myocardial fibre disarray and myocardial fibrosis. 61
7191711 1980
46
Idiopathic hypertrophic subaortic stenosis: detection by thallium 201 myocardial perfusion imaging. 61
1237793 1975

Variations for Cardiomyopathy, Familial Hypertrophic, 10

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 10:

6 (show top 50) (show all 160)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYL2 NM_000432.3(MYL2):c.283C>G (p.Pro95Ala) SNV Pathogenic 14066 rs121913658 GRCh37: 12:111351120-111351120
GRCh38: 12:110913316-110913316
2 MYL2 NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) SNV Pathogenic 14067 rs104894369 GRCh37: 12:111352091-111352091
GRCh38: 12:110914287-110914287
3 MYL2 NC_000012.12:g.(?_110910819)_(110911175_?)del Deletion Pathogenic 417460 GRCh37: 12:111348623-111348979
GRCh38: 12:110910819-110911175
4 MYL2 NM_000432.4(MYL2):c.239C>A (p.Thr80Asn) SNV Pathogenic 155818 rs587782965 GRCh37: 12:111352025-111352025
GRCh38: 12:110914221-110914221
5 MYL2 NM_000432.4(MYL2):c.403-1G>T SNV Pathogenic 403210 rs199474813 GRCh37: 12:111348980-111348980
GRCh38: 12:110911176-110911176
6 LOC114827850 , MYL2 NM_000432.4(MYL2):c.3+2T>C SNV Pathogenic 802893 rs111373423 GRCh37: 12:111358329-111358329
GRCh38: 12:110920525-110920525
7 LOC114827850 , MYL2 NM_000432.4(MYL2):c.47del (p.Asn16fs) Deletion Pathogenic 997507 GRCh37: 12:111356954-111356954
GRCh38: 12:110919150-110919150
8 MYL2 NM_000432.3(MYL2):c.431_432del (p.Pro144fs) Deletion Pathogenic 626790 rs1566147422 GRCh37: 12:111348950-111348951
GRCh38: 12:110911146-110911147
9 MYL2 NM_000432.3(MYL2):c.403-1G>C SNV Pathogenic/Likely pathogenic 31768 rs199474813 GRCh37: 12:111348980-111348980
GRCh38: 12:110911176-110911176
10 LOC114827850 , MYL2 NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) SNV Pathogenic/Likely pathogenic 14065 rs104894368 GRCh37: 12:111356937-111356937
GRCh38: 12:110919133-110919133
11 LOC114827850 , MYL2 NM_000432.3(MYL2):c.52T>C (p.Phe18Leu) SNV Likely pathogenic 14068 rs104894370 GRCh37: 12:111356949-111356949
GRCh38: 12:110919145-110919145
12 MYL2 NM_000432.4(MYL2):c.125G>A (p.Gly42Asp) SNV Likely pathogenic 217490 rs863225117 GRCh37: 12:111353563-111353563
GRCh38: 12:110915759-110915759
13 MYL2 NM_000432.3(MYL2):c.173G>T (p.Arg58Leu) SNV Likely pathogenic 532778 rs104894369 GRCh37: 12:111352091-111352091
GRCh38: 12:110914287-110914287
14 MYL2 NM_000432.4(MYL2):c.488A>C (p.Glu163Ala) SNV Likely pathogenic 43480 rs397516407 GRCh37: 12:111348894-111348894
GRCh38: 12:110911090-110911090
15 MYL2 NM_000432.4(MYL2):c.163G>C (p.Ala55Pro) SNV Likely pathogenic 802892 rs727504425 GRCh37: 12:111353525-111353525
GRCh38: 12:110915721-110915721
16 MYL2 NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) SNV Conflicting interpretations of pathogenicity 43475 rs143139258 GRCh37: 12:111350901-111350901
GRCh38: 12:110913097-110913097
17 LOC114827850 , MYL2 NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) SNV Conflicting interpretations of pathogenicity 14064 rs104894363 GRCh37: 12:111356964-111356964
GRCh38: 12:110919160-110919160
18 MYL2 NM_000432.3(MYL2):c.274+8_274+9insAT Insertion Uncertain significance 409233 rs572538551 GRCh37: 12:111351981-111351982
GRCh38: 12:110914177-110914178
19 MYL2 NM_000432.3(MYL2):c.380C>T (p.Ala127Val) SNV Uncertain significance 409235 rs141878747 GRCh37: 12:111350922-111350922
GRCh38: 12:110913118-110913118
20 MYL2 NM_000432.4(MYL2):c.119G>T (p.Arg40Met) SNV Uncertain significance 178974 rs727503299 GRCh37: 12:111353569-111353569
GRCh38: 12:110915765-110915765
21 MYL2 NM_000432.4(MYL2):c.119G>A (p.Arg40Lys) SNV Uncertain significance 164481 rs727503299 GRCh37: 12:111353569-111353569
GRCh38: 12:110915765-110915765
22 LOC114827850 , MYL2 NM_000432.3(MYL2):c.49G>A (p.Val17Met) SNV Uncertain significance 181424 rs730880943 GRCh37: 12:111356952-111356952
GRCh38: 12:110919148-110919148
23 MYL2 NM_000432.3(MYL2):c.430C>A (p.Pro144Thr) SNV Uncertain significance 409234 rs777689913 GRCh37: 12:111348952-111348952
GRCh38: 12:110911148-110911148
24 MYL2 NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) SNV Uncertain significance 132976 rs199474814 GRCh37: 12:111348898-111348898
GRCh38: 12:110911094-110911094
25 MYL2 NM_000432.3(MYL2):c.402+6G>C SNV Uncertain significance 237782 rs749765328 GRCh37: 12:111350894-111350894
GRCh38: 12:110913090-110913090
26 MYL2 NM_000432.4(MYL2):c.359G>A (p.Arg120Gln) SNV Uncertain significance 36645 rs192057022 GRCh37: 12:111350943-111350943
GRCh38: 12:110913139-110913139
27 MYL2 NM_000432.4(MYL2):c.184A>T (p.Lys62Ter) SNV Uncertain significance 164478 rs201728041 GRCh37: 12:111352080-111352080
GRCh38: 12:110914276-110914276
28 MYL2 NM_000432.3(MYL2):c.302A>G (p.Asn101Ser) SNV Uncertain significance 307213 rs886048960 GRCh37: 12:111351101-111351101
GRCh38: 12:110913297-110913297
29 MYL2 NM_000432.3(MYL2):c.*102C>A SNV Uncertain significance 307211 rs542961456 GRCh37: 12:111348779-111348779
GRCh38: 12:110910975-110910975
30 MYL2 NM_000432.3(MYL2):c.275-12G>A SNV Uncertain significance 307214 rs750937792 GRCh37: 12:111351140-111351140
GRCh38: 12:110913336-110913336
31 MYL2 NM_000432.3(MYL2):c.*10C>T SNV Uncertain significance 36647 rs193922452 GRCh37: 12:111348871-111348871
GRCh38: 12:110911067-110911067
32 LOC114827850 , MYL2 NM_000432.3(MYL2):c.-12G>C SNV Uncertain significance 307217 rs886048962 GRCh37: 12:111358345-111358345
GRCh38: 12:110920541-110920541
33 MYL2 NM_000432.3(MYL2):c.402+8G>T SNV Uncertain significance 307212 rs886048959 GRCh37: 12:111350892-111350892
GRCh38: 12:110913088-110913088
34 MYL2 NM_000432.3(MYL2):c.278C>T (p.Ala93Val) SNV Uncertain significance 532779 rs774193307 GRCh37: 12:111351125-111351125
GRCh38: 12:110913321-110913321
35 MYL2 NM_000432.3(MYL2):c.229A>G (p.Ile77Val) SNV Uncertain significance 532780 rs373475989 GRCh37: 12:111352035-111352035
GRCh38: 12:110914231-110914231
36 MYL2 NM_000432.3(MYL2):c.275-8C>A SNV Uncertain significance 532781 rs765328765 GRCh37: 12:111351136-111351136
GRCh38: 12:110913332-110913332
37 MYL2 NM_000432.3(MYL2):c.203A>G (p.Glu68Gly) SNV Uncertain significance 567448 rs752456288 GRCh37: 12:111352061-111352061
GRCh38: 12:110914257-110914257
38 MYL2 NM_000432.3(MYL2):c.347C>T (p.Ala116Val) SNV Uncertain significance 568234 rs1566148270 GRCh37: 12:111351056-111351056
GRCh38: 12:110913252-110913252
39 LOC114827850 , MYL2 NM_000432.4(MYL2):c.45_46delinsT (p.Asn16fs) Indel Uncertain significance 177719 rs727504300 GRCh37: 12:111356955-111356956
GRCh38: 12:110919151-110919152
40 MYL2 NM_000432.3(MYL2):c.260G>A (p.Gly87Glu) SNV Uncertain significance 571147 rs397516399 GRCh37: 12:111352004-111352004
GRCh38: 12:110914200-110914200
41 LOC114827850 , MYL2 NM_000432.4(MYL2):c.4G>A (p.Ala2Thr) SNV Uncertain significance 403211 rs1060499882 GRCh37: 12:111356997-111356997
GRCh38: 12:110919193-110919193
42 MYL2 NM_000432.3(MYL2):c.473_475TCA[3] (p.Ile159dup) Microsatellite Uncertain significance 582167 rs1566147363 GRCh37: 12:111348903-111348904
GRCh38: 12:110911099-110911100
43 MYL2 NM_000432.4(MYL2):c.428C>T (p.Pro143Leu) SNV Uncertain significance 177824 rs727504341 GRCh37: 12:111348954-111348954
GRCh38: 12:110911150-110911150
44 LOC114827850 , MYL2 NM_000432.3(MYL2):c.28G>A (p.Ala10Thr) SNV Uncertain significance 181423 rs730880942 GRCh37: 12:111356973-111356973
GRCh38: 12:110919169-110919169
45 MYL2 NM_000432.3(MYL2):c.433G>A (p.Asp145Asn) SNV Uncertain significance 191733 rs199567559 GRCh37: 12:111348949-111348949
GRCh38: 12:110911145-110911145
46 LOC114827850 , MYL2 NM_000432.3(MYL2):c.6del (p.Pro3fs) Deletion Uncertain significance 426273 rs1085307533 GRCh37: 12:111356995-111356995
GRCh38: 12:110919191-110919191
47 MYL2 NM_000432.3(MYL2):c.253A>G (p.Met85Val) SNV Uncertain significance 644658 rs1592800281 GRCh37: 12:111352011-111352011
GRCh38: 12:110914207-110914207
48 MYL2 NM_000432.4(MYL2):c.459G>C (p.Lys153Asn) SNV Uncertain significance 43478 rs149078011 GRCh37: 12:111348923-111348923
GRCh38: 12:110911119-110911119
49 MYL2 NM_000432.3(MYL2):c.444C>T (p.Gly148=) SNV Uncertain significance 464146 rs1555257596 GRCh37: 12:111348938-111348938
GRCh38: 12:110911134-110911134
50 MYL2 NM_000432.3(MYL2):c.322C>T (p.Pro108Ser) SNV Uncertain significance 464144 rs1555257773 GRCh37: 12:111351081-111351081
GRCh38: 12:110913277-110913277

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 10:

72
# Symbol AA change Variation ID SNP ID
1 MYL2 p.Ala13Thr VAR_004601 rs104894363
2 MYL2 p.Phe18Leu VAR_004602 rs104894370
3 MYL2 p.Glu22Lys VAR_004603 rs104894368
4 MYL2 p.Arg58Gln VAR_004604 rs104894369
5 MYL2 p.Pro95Ala VAR_004605 rs121913658
6 MYL2 p.Asp166Val VAR_019844 rs199474815

Expression for Cardiomyopathy, Familial Hypertrophic, 10

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 10.

Pathways for Cardiomyopathy, Familial Hypertrophic, 10

Pathways related to Cardiomyopathy, Familial Hypertrophic, 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.89 MYL2 ACE

GO Terms for Cardiomyopathy, Familial Hypertrophic, 10

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart contraction GO:0060047 8.62 MYL2 ACE

Sources for Cardiomyopathy, Familial Hypertrophic, 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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