MCID: CRD203
MIFTS: 25

Cardiomyopathy, Hypertrophic, 4 malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 4

About this section

Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 4:

Name: Cardiomyopathy, Hypertrophic, 4 49
Cardiomyopathy, Familial Hypertrophic, 4 11 65
 
Cardiomyopathy, Familial Hypertrophic 4 67 24
Cmh4 67

Characteristics:

HPO:

61
cardiomyopathy, hypertrophic, 4:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 115197
MeSH36 D024741
UMLS65 C1861862

Summaries for Cardiomyopathy, Hypertrophic, 4

About this section
UniProtKB/Swiss-Prot:67 Cardiomyopathy, familial hypertrophic 4: 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.

MalaCards based summary: Cardiomyopathy, Hypertrophic, 4, also known as cardiomyopathy, familial hypertrophic, 4, is related to cardiomyopathy, familial hypertrophic and hepatitis, and has symptoms including hypertrophic cardiomyopathy An important gene associated with Cardiomyopathy, Hypertrophic, 4 is MYBPC3 (Myosin Binding Protein C, Cardiac). Affiliated tissues include heart and brain.

Description from OMIM:49 115197

Related Diseases for Cardiomyopathy, Hypertrophic, 4

About this section

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
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogen Storage Disease

Diseases related to Cardiomyopathy, Hypertrophic, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, familial hypertrophic10.5
2hepatitis10.3
3hepatitis c10.3

Symptoms for Cardiomyopathy, Hypertrophic, 4

About this section

Symptoms by clinical synopsis from OMIM:

115197

Clinical features from OMIM:

115197

HPO human phenotypes related to Cardiomyopathy, Hypertrophic, 4:

id Description Frequency HPO Source Accession
1 hypertrophic cardiomyopathy HP:0001639

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 4

About this section

Drugs for Cardiomyopathy, Hypertrophic, 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 53)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DoxazosinapprovedPhase 45474191-85-83157
Synonyms:
1-(4-Amino-6,7-Dimethoxy-2-quinazolinyl)-4-(1,4-benzodioxan-2-ylcarbonyl)piperazin
1-(4-Amino-6,7-dimethoxy-2-chinazolinyl)-4-(2,3-dihydro-1,4-benzodioxixin-2-ylcarbonyl)piperazin
1-(4-Amino-6,7-dimethoxy-2-quinazolinyl)-4-(1,4-benzodioxan-2-ylcarbonyl)piperazin
1-(4-Amino-6,7-dimethoxy-2-quinazolinyl)-4-[4-(1,4-benzodioxan-2-yl)carpiperazin-1-yl)]-6,7-dimethoxyquinazoline mesylate
2-[4-(2,3-dihydro-1,4-benzodioxin-2-ylcarbonyl)piperazin-1-yl]-6,7-bis(methyloxy)quinazolin-4-amine
2-[4-(2,3-dihydro-1,4-benzodioxin-2-ylcarbonyl)piperazin-1-yl]-6,7-dimethoxyquinazolin-4-amine
2-{4-[(2,3-dihydro-1,4-benzodioxin-2-yl)carbonyl]piperazin-1-yl}-6,7-dimethoxyquinazolin-4-amine
74191-85-8
77883-43-3 (mesylate)
AC-11062
AC1L1FAT
AC1Q470P
AC1Q4EXN
AKOS001681453
BPBio1_000963
BRD-A13188892-066-03-3
BSPBio_000875
C06970
C23H25N5O5
CHEBI:4708
CHEMBL707
CID3157
CPD000097306
Cardura
Cardura XL
Cardura XL (TN)
Cardura-1
Cardura-2
Cardura-4
ChemDiv2_005017
D07874
D9815_SIGMA
DB00590
 
Doxazosin
Doxazosin (INN)
Doxazosin Mesylate
Doxazosin [INN:BAN]
Doxazosin mesilate
Doxazosin mesylate
Doxazosina
Doxazosina [Spanish]
Doxazosine
Doxazosine [French]
Doxazosinum
Doxazosinum [Latin]
HMS1383E01
HMS2090C20
I06-1346
IDI1_003732
L000738
LS-110228
Lopac0_000474
MolPort-001-684-491
NCGC00018158-06
NCGC00089775-02
Normothen
Oprea1_259518
Prestwick0_000858
Prestwick1_000858
Prestwick2_000858
Prestwick3_000858
SAM002589981
SPBio_002796
UK 33274
UK-33274
UNII-NW1291F1W8
[4-(4-amino-6,7-dimethoxyquinazolin-2-yl)piperazin-1-yl]-(2,3-dihydro-1,4-benzodioxin-3-yl)methanone
doxazosin
2
Carvedilolapproved, investigationalPhase 415372956-09-32585
Synonyms:
(+-)-1-(Carbazol-4-yloxy)-3-((2-(O-methoxyphenoxy)ethyl)amino)-2-propanol
(+-)-1-(Carbazol-4-yloxy)-3-((2-(o-methoxyphenoxy)ethyl)amino)-2-propanol
(+-)-1-Carbazol-4-yloxy)-3-((2-(o-methoxyphenoxy)ethyl)amino)-2-propanol
(+/-)-1-(Carbazol-4-yloxy)-3-[[2-(o-methoxyphenoxy)ethyl]amino]-2-propanol
1-(9H-Carbazol-4-yloxy)-3-[[2-(2-methoxyphenoxy)ethyl]amino]-2-propanol
1-(9H-carbazol-4-yloxy)-3-[(2-{[2-(methyloxy)phenyl]oxy}ethyl)amino]propan-2-ol
1-(9H-carbazol-4-yloxy)-3-[2-(2-methoxyphenoxy)ethylamino]propan-2-ol
1-(9H-carbazol-4-yloxy)-3-{[2-(2-methoxyphenoxy)ethyl]amino}propan-2-ol
107741-96-8
72956-09-3
AB1004830
AC-1641
AC1L1E0B
Artist
Artist (TN)
Atlana Pharma brand of carvedilol
BM 14190
BM-14-190
BM-14.190
BM-14190
BRD-A10977446-001-04-8
BRD-A10977446-045-01-1
Bio-0014
C043211
C06875
C2260
C24H26N2O4
CHEBI:3441
CHEMBL723
CID2585
CPD000449280
Carvedilol
Carvedilol (JAN/USAN/INN)
Carvedilol [USAN:INN:BAN:JAN]
Carvedilolum
Carvedilolum [Latin]
Coreg
Coreg (TN)
Coreg CR
Coropres
Coropress
D00255
DB01136
DQ 2466
DQ-2466
Dibloc
 
Dilatrend
EG-P042
Eucardic
GlaxoSmithKline brand of carvedilol
HMS2051N03
HMS2089B09
HMS2093E12
HSDB 7044
I06-0064
I06-1477
KBio2_002145
KBio2_004713
KBio2_007281
KBio3_002323
KBioGR_001252
KBioSS_002145
Kredex
L001243
LS-121875
Lakeside brand of carvedilol
MLS000758299
MLS000759508
MLS001424092
MolPort-003-666-814
NCGC00167832-01
NCGC00167832-02
NCGC00167832-03
Querto
Roche brand of carvedilol
SAM001246736
SAM001247021
SK&F-105517
SKF 105517
SMR000449280
SPBio_001885
STK621453
Spectrum2_001673
Spectrum3_001182
Spectrum4_000636
Spectrum5_001436
Spectrum_001665
TL8005080
UNII-0K47UL67F2
carvedilol
carvedilol, (+-)-isomer
carvedilol, (R)-isomer
carvedilol, (S)-isomer
carvedilol, 14C-labeled
3
Metoprololapproved, investigationalPhase 419337350-58-64171
Synonyms:
(+/-)-Metoprolol
(RS)-Metoprolol
1-(Isopropylamino)-3-(4-(2-methoxyethyl)phenoxy)propan-2-ol
1-(Isopropylamino)-3-(p-(2-methoxyethyl)phenoxy)-2-propanol
1-(isopropylamino)-3-[4-(2-methoxyethyl)phenoxy]propan-2-ol
1-[(1-methylethyl)amino]-3-({4-[2-(methyloxy)ethyl]phenyl}oxy)propan-2-ol
1-[4-(2-methoxyethyl)phenoxy]-3-(propan-2-ylamino)propan-2-ol
1-[4-(2-methoxyethyl)phenoxy]-3-propan-2-ylamino-propan-2-ol
3-[4-(2-methoxyethyl)phenoxy]-1-(propan-2-ylamino)propan-2-ol
37350-58-6
51384-51-1
54163-88-1
AB00053499
AC-19022
AC1L1HKM
AstraZeneca Brand of Metaoprolol Tartrate
AstraZeneca Brand of Seloken
BRD-A03623303-045-02-0
Beatrolol
Beloc
Beloc Duriles
Beloc-Duriles
BelocDuriles
Betaloc
Betaloc Astra
Betaloc-Astra
BetalocAstra
Betalok
C07202
CCRIS 4198
CGP 2175
CGP-2175
CGP2175
CHEBI:6904
CHEMBL13
CID4171
D008790
D02358
DB00264
Dl-Metoprolol
Dutoprol
EINECS 253-483-7
EINECS 257-166-4
H 93 26
H 93-26
H 9326
HMS2090B15
 
HSDB 6531
I01-7125
I06-0125
Jsp006606
L000669
LOPRESSIDONE
LS-122450
Leiras Brand of Metoprolol Succinate or Metoprolol Tartrate
Lopresor
Lopresoretic
Lopressor
Lopressor HCT
Meijoprolol
Metohexal
Metoprolol
Metoprolol (USAN/INN)
Metoprolol Succinate
Metoprolol Succinate extended-release
Metoprolol Tartrate
Metoprolol [USAN:INN:BAN]
Metoprolol succinate
Metoprolol tartrate
Metoprololum
Metoprololum [INN-Latin]
Metroprolol
MolPort-005-938-039
NCGC00021148-02
NCGC00021148-03
NCGC00021148-04
Novartis Brand of Metprolol Tartrate
Preblok
Prelis
Presolol
Selo-Zok
Seloken
Seloken AstraZeneca Brand
Selopral
Seroken
Spesicor
Spesikor
TOPROL-XL
Tartrate, Metoprolol
Toprol
Toprol XL
Toprol-XL
UNII-GEB06NHM23
dl-Metoprolol
metoprolol
4
Ranolazineapproved, investigationalPhase 476142387-99-356959
Synonyms:
( -)-Ranolazine
(-)-Ranolazine
142387-99-3
95635-55-5
AC-1673
AC1L1M17
AC1Q5LYD
BRD-A97674275-001-01-9
BSPBio_002276
CHEMBL1404
CID56959
CVT-303
D05700
DB00243
HMS1922F16
HMS2090L09
HMS2093D21
I01-2008
I06-0160
KEG-1295
LS-187267
Latixa
Lopac0_001062
 
MLS002154149
MolPort-003-666-653
N-(2,6-dimethylphenyl)-2-[4-[2-hydroxy-3-(2-methoxyphenoxy)propyl]piperazin-1-yl]acetamide
NCGC00015897-05
NCGC00095177-01
NCGC00095177-02
NCGC00095177-03
RAN D
RANOLAZINE
RS-43285
RS-43285-003
Ran4
Ranexa
Ranexa (TN)
Ranexa, Ranolazine
Ranolazine (USAN/INN)
Ranolazine 2HCl
Ranolazine Dihydrochloride
Ranolazine dihydrochloride
S1799_Selleck
SMR000857382
SPECTRUM1505366
UNII-A6IEZ5M406
ranolazine
5
SpironolactoneapprovedPhase 41591952-01-7, 52-01-75833
Synonyms:
4-18-00-01601 (Beilstein Handbook Reference)
4-Pregnen-21-oic acid-17alpha-ol-3-one-7alpha-thiol gamma-lactone 7-acetate
496916-40-6
52-01-7
7-alpha-Acetylthio-3-oxo-17-alpha-pregn-4-ene-21,17-beta-carbolactone
7alpha-(acetylsulfanyl)-3-oxo-17alpha-pregn-4-ene-21,17-carbolactone
AB00513806
AC-4214
AC1L1L8Q
Abbolactone
Acelat
Aldace
Aldactazide
Aldactide
Aldactone
Aldactone (TN)
Aldactone A
Alderon
Aldopur
Almatol
Alphapharm Brand of Spironolactone
Alpharma Brand of Spironolactone
Alter Brand of Spironolactone
Altex
Aquareduct
Ashbourne Brand of Spironolactone
Azupharma Brand of Spironolactone
BIDD:PXR0071
BPBio1_000194
BRD-K90027355-001-03-4
BRN 0057767
BSPBio_000176
C07310
C24H32O4S
CHEBI:428201
CHEBI:45692
CHEBI:9241
CHEMBL1393
CID5833
CPD000471892
Cardel Brand of Spironolactone
D00443
D013148
DB00421
Deverol
Dexo Brand of Spironolactone
Diatensec
Dira
Duraspiron
EINECS 200-133-6
Espironolactona
Espironolactona Alter
Espironolactona Mundogen
Espironolactona [INN-Spanish]
Euteberol
Flumach
Frumikal
Generosan Brand of Spironolactone
HMS1568I18
HMS2090N21
HSDB 3184
Hormosan Brand of Spironolactone
I06-1970
Jenapharm Brand of Spironolactone
Jenaspiron
LS-118614
LT00772287
Lacalmin
Lacdene
Laractone
MLS001074672
MLS001333253
MLS001333254
MLS002153245
MLS002207058
Mayoly-Spindler Brand of Spironolactone
Melarcon
Merck dura Brand of Spironolactone
Mundogen Brand of Spironolactone
NCGC00164397-01
 
NCGC00164397-02
NSC 150399
NSC150399
Nefurofan
Novo Spiroton
Novo-Spiroton
NovoSpiroton
Novopharm Brand of Spironolactone
Osyrol
Pfizer Brand of Spironolactone
Pharmafrid Brand of Spironolactone
Practon
Prestwick0_000128
Prestwick1_000128
Prestwick2_000128
Prestwick3_000128
Roche Brand of Spironolactone
S0260
S3378_SIGMA
SAM002264648
SC 9420
SC-9420
SC9420
SMR000471892
SNL
SPBio_002115
Sagisal
Searle Brand of Spironolactone
Sincomen
Spiractin
Spiresis
Spiretic
Spiridon
Spiro L.U.T.
Spiro(17H-cyclopenta(a)phenauthrene-17,2'-(3'H)-furan)
Spiro-Tablinen
Spiro[17H-cyclopenta[a]phenauthrene-17,2'-(3'H)-furan]
Spirobeta
Spiroctan
Spiroctanie
Spiroderm
Spirogamma
Spirolactone
Spirolakton
Spirolang
Spirolone
Spirone
Spirono Isis
Spirono-Isis
Spironocompren
Spironolactone
Spironolactone (JP15/USP/INN)
Spironolactone A
Spironolactone [BAN:INN:JAN]
Spironolactone [INN:BAN:JAN]
Spironolactonum
Spironolactonum [INN-Latin]
Spironolattone
Spironolattone [DCIT]
Spironone
Spirospare
Sprioderm
Supra-puren
Suracton
UNII-27O7W4T232
Uractone
Urusonin
Veroshpiron
Verospiron
Verospirone
Verospirone Opianin
WLN: L E5 B666 FX OV MUTJ A1 E1 KSV1 F-& CT5VOXTJ
Worwag Brand of Spironolactone
Xenalon
ZINC03861599
betapharm Brand of Spironolactone
ct Arzneimittel Brand of Spironolactone
ct-Arzneimittel Brand of Spironolactone
spiro von ct
spironolactone
spironolattone
von ct, spiro
6
Tadalafilapproved, investigationalPhase 4140171596-29-5110635
Synonyms:
(6R,12AR)-2,3,6,7,12,12a-hexahydro-2-methyl-6-(3,4-(methylenedioxy)phenyl) pyrazino(1',2':1,6)pyrido(3,4-b)indole-1,4-dione
(6R,12aR)-2,3,6,7,12,12a-Hexahydro-2-methyl-6-(3,4-(methylenedioxy)phenyl) pyrazino(1',2':1,6)pyrido(3,4-b)indole-1,4-dione
(6R,12aR)-2,3,6,7,12,12a-Hexahydro-2-methyl-6-(3,4-methylenedioxyphenyl)pyrazino(1',2':1,6)pyrido(3,4-b)indole-1,4-dione
(6R-trans)-6-(1,3-Benzodioxol-5-yl)-2,3,6,7,12,12a-hexahydro-2-methyl-pyrazino(1',2':1,6)pyrido(3,4-b)indole-1,4-dione
171596-29-5
1xoz
6-BENZO[1,3]dioxol-5-yl-2-methyl-2,3,6,7,12,12a-hexahydro-pyrazino[1',2':1,6]pyrido[3,4-b]indole-1,4-dione
AC1L380B
ADCIRCA
Acdirca
Adcirca
C429886
CHEBI:41488
CHEMBL779
CID110635
CPD000466321
Cialis
Cialis (TN)
Cialis, GF 196960, IC 351, ICOS 351, Tadalafil
D02008
DB00820
FT-0080116
GF 196960
GF-196960
 
HMS2051N17
HSDB 7303
IC 351
IC-351
ICOS 351
Ic351
KS-1117
LS-186558
LS-187015
LS-187770
Lilly brand of tadalafil
MLS000759426
MLS001165782
MLS001195644
MLS001424132
MolPort-002-885-864
S1512_Selleck
SAM001246586
SMR000466321
Tadalafil
Tadalafil (JAN/USAN/INN)
Tadalafil [USAN]
Tadanafil
UNII-742SXX0ICT
ZINC03993855
7
ChlorthalidoneapprovedPhase 45777-36-12732
Synonyms:
(+-)-Chlorthalidone
(+-)-Hygroton
1-Keto-3-(3'-sulfamyl-4'-chlorophenyl)-3-hydroxyisoindoline
1-Oxo-3-(3-sulfamyl-4-chlorophenyl)-3-hydroxyisoindoline
1-keto-3-(3'-Sulfamyl-4'-chlorophenyl)-3-hydroxyisoindoline
1-oxo-3-(3-Sulfamyl-4-chlorophenyl)-3-hydroxyisoindoline
2-Chloro-5-(1-hydroxy-3-oxo-1-isoindolinyl)benzenesulfonamide
2-Chloro-5-(1-hydroxy-3-oxo-2,3-dihydro-1H-isoindol-1-yl)benzenesulfonamide
2-chloro-5-(1-Hydroxy-3-oxo-1-isoindolinyl)benzenesulfonamide
2-chloro-5-(1-hydroxy-3-oxo-2H-isoindol-1-yl)benzenesulfonamide
2-chloro-5-(2,3-dihydro-1-Hydroxy-3-oxo-1H-isoindol-1-yl)benzenesulfonamide
2-chloro-5-(2,3-dihydro-1-hydroxy-3-oxo-1H-isoindol-1-yl)benzenesulfonamide
3-(4'-Chloro-3'-sulfamoylphenyl)-3-hydroxyphthalimidine
3-(4'-chloro-3'-Sulfamoylphenyl)-3-hydroxyphthalimidine
3-Hydroxy-3-(4-chloro-3-sulfamylphenyl)phthalimidine
5-22-07-00602 (Beilstein Handbook Reference)
77-36-1
A3836/0162845
AB00051946
AC-11367
AC1L1ECB
AC1Q558X
BPBio1_000487
BRD-A26384407-001-05-3
BRN 0312295
BSPBio_000441
BSPBio_002017
C14H11ClN2O4S
C2775_FLUKA
C2775_SIGMA
CHEBI:3654
CHEMBL1055
CID2732
CPD000058635
Chlorothalidone
Chlorphthalidolone
Chlorphthalidone
Chlortalidone
Chlortalidone (JAN/INN)
Chlortalidonum
Chlortalidonum [INN-Latin]
Chlorthalidon
Chlorthalidone
Chlorthalidone (USP)
Chlorthalidone [USAN:INN:BAN]
Clodronic Acid
Clortalidona
Clortalidona [INN-Spanish]
Clortalidone
Clortalidone [DCIT]
D00272
D002752
DB00310
DivK1c_000731
EINECS 201-022-5
Famolin
G 33182
G-33182
HMS1569G03
HMS1920M09
 
HMS2091E12
HMS502E13
HSDB 3035
Higroton
Hydro-Long
Hygroton
Hygroton (TN)
I06-0208
IDI1_000731
Igroton
Isoren
KBio1_000731
KBio2_000626
KBio2_003194
KBio2_005762
KBio3_001237
KBioGR_001574
KBioSS_000626
LS-31408
MLS000069531
MolPort-002-736-049
NCGC00094616-01
NCGC00094616-02
NCGC00094616-03
NCGC00094616-04
NINDS_000731
NSC 69200
NSC69200
Natriuran
Oksodolin (oxodolin)
Oradil
Oxodolin
Oxodoline
Phthalamodine
Phthalamudine
Prestwick0_000351
Prestwick1_000351
Prestwick2_000351
Prestwick3_000351
Prestwick_759
Racemic chlorthalidone
Renon
SAM002589983
SMR000058635
SPBio_000058
SPBio_002362
SPECTRUM1500187
ST088141
STK686335
Saluretin
Spectrum2_000099
Spectrum3_000349
Spectrum4_000957
Spectrum5_000743
Spectrum_000146
Tenoretic
Thalitone
Thalitone (TN)
UNII-Q0MQD1073Q
Urolin
Zambesil
chlorthalidone
8
EmpagliflozinapprovedPhase 493864070-44-0
Synonyms:
 
(1S)-1,5-anhydro-1-(4-chloro-3-{4-[(3S)-tetrahydrofuran-3-yloxy]benzyl}phenyl)-D-glucitol
1-chloro-4-(glucopyranos-1-yl)-2-(4-(tetrahydrofuran-3-yloxy)benzyl)benzene
9
GlimepirideapprovedPhase 422193479-97-13476
Synonyms:
1-((p-(2-(3-Ethyl-4-methyl-2-oxo-3-pyrroline-1-carboxamido)ethyl)phenyl)sulfonyl)-3-(trans-4-methylcyclohexyl)urea
1-{[4-(2-{[(3-ethyl-4-methyl-2-oxo-2,5-dihydro-1H-pyrrol-1-yl)carbonyl]amino}ethyl)phenyl]sulfonyl}-3-(trans-4-methylcyclohexyl)urea
3-ethyl-4-methyl-N-[2-(4-{[(trans-4-methylcyclohexyl)carbamoyl]sulfamoyl}phenyl)ethyl]-2-oxo-2,5-dihydro-1H-pyrrole-1-carboxamide
3-ethyl-4-methyl-n-(4-(n-((1r,4r)-4-methylcyclohexylcarbamoyl)sulfamoyl)phenethyl)-2-oxo-2,5-dihydro
4-ethyl-3-methyl-N-[2-[4-[(4-methylcyclohexyl)carbamoylsulfamoyl]phenyl]ethyl]-5-oxo-2H-pyrrole-1-carboxamide
64598P
93479-97-1
AB00513874
AC-476
AC1L1G0T
Amarel
Amaryl
Amaryl (TN)
Amaryl, Glista OD, Glimepiride
Avaglim
BPBio1_000751
BRD-K34776109-001-03-4
BRD-K42693031-001-01-8
BRN 5365754
BSPBio_000681
Bio-0049
C07669
C24H34N4O5S
CAS-93479-97-1
CCRIS 7083
CHEBI:5383
CHEMBL1481
CID3476
CPD000466368
D00593
DB00222
Endial
G2295_SIGMA
Glimepirid
Glimepirida
Glimepirida [Spanish]
Glimepiride
Glimepiride (JAN/USP/INN)
Glimepiride [USAN:BAN:INN]
Glimepiridum
 
Glimepiridum [Latin]
Glimepride
Glimer
Glim├ępiride
Glymepirid
HMS1570C03
HMS2052L03
HMS2090K18
HOE 490
Hoe-490
I06-0029
I06-2285
LS-136752
MLS000759495
MLS001076674
MLS001401419
MolPort-003-847-587
MolPort-003-987-461
MolPort-005-941-721
NCGC00016960-01
NCGC00161404-01
NCGC00161404-02
NCGC00181757-01
Novo-glimepiride
Oprea1_382896
PMS-glimepiride
Prestwick0_000651
Prestwick1_000651
Prestwick2_000651
Prestwick3_000651
Ratio-glimepiride
Roname
S1344_Selleck
SAM001246710
SMR000466368
SPBio_002602
Sandoz glimepiride
Solosa
TL8005924
UNII-6KY687524K
ZINC00537791
glimepiride
10
DobutamineapprovedPhase 410834368-04-236811
Synonyms:
(+-)-4-(2-((3-(P-Hydroxyphenyl)-1-methylpropyl)amino)ethyl)pyrocatechol
(+-)-4-(2-((3-(p-Hydroxyphenyl)-1-methylpropyl)amino)ethyl)pyrocatechol
3,4-Dihydroxy-N-[3-(4-hydroxyphenyl)-1-methylpropyl]-beta-phenylethylamine
3,4-dihydroxy-N-[3-(4-hydroxyphenyl)-1-methylpropyl]-beta-phenylethylamine
34368-04-2
34368-04-2 (Parent)
4-(2-{[3-(4-hydroxyphenyl)-1-methylpropyl]amino}ethyl)benzene-1,2-diol
4-(2-{[4-(4-hydroxyphenyl)butan-2-yl]amino}ethyl)benzene-1,2-diol
4-[2-[4-(4-hydroxyphenyl)butan-2-ylamino]ethyl]benzene-1,2-diol
4-{2-[3-(4-hydroxy-phenyl)-1-methyl-propylamino]-ethyl}-benzene-1,2-diol
52663-81-7 (hydrochloride)
74753-15-4
74753-15-4 (hydrobromide)
AC1L1WFF
AC1Q7AD1
BPBio1_000489
BRD-A78322124-003-03-3
BSPBio_000443
C06967
CHEBI:4670
CHEMBL926
CID36811
D03879
DB00841
DL-Dobutamine
DL-dobutamine
Dobutamin
Dobutamina
Dobutamina [INN-Spanish]
Dobutamine
Dobutamine (USP/INN)
Dobutamine Hcl
Dobutamine Hcl in Dextrose 5%
Dobutamine Hydrochloride
 
Dobutamine Tartrate (1:1), (S-(R*,R*))-Isomer
Dobutamine [USAN:BAN:INN]
Dobutamine [USAN]
Dobutamine [Usan:Ban:Inn]
Dobutamine [Usan]
Dobutamine hydrobromide
Dobutamine hydrochloride
Dobutaminum
Dobutaminum [INN-Latin]
Dobutrex
EINECS 277-982-4
HMS2089K05
Inotrex
L001157
LS-174467
LY 81929
Lilly 81929
Lopac0_000365
NCGC00015321-05
NCGC00024629-02
NCGC00024629-03
Prestwick0_000352
Prestwick1_000352
Prestwick2_000352
Prestwick3_000352
Racemic-Dobutamine
Racemic-dobutamine
SPBio_002364
UNII-0WR771DJXV
UNII-3S12J47372
dobutamine
dobutamine(usp)
rac-Dobutamine
rac-dobutamine
racemic-Dobutamine
11Diuretics, Potassium SparingPhase 41445
12Peripheral Nervous System AgentsPhase 418510
13Vasodilator AgentsPhase 4, Phase 32926
14Neurotransmitter AgentsPhase 414795
15Sodium Channel BlockersPhase 41180
16Adrenergic AgentsPhase 44204
17Adrenergic alpha-1 Receptor AntagonistsPhase 4405
18Adrenergic AntagonistsPhase 41253
19Adrenergic beta-1 Receptor AntagonistsPhase 4292
20Antihypertensive AgentsPhase 43618
21Adrenergic alpha-AntagonistsPhase 4586
22Anti-Arrhythmia AgentsPhase 42371
23Adrenergic beta-AntagonistsPhase 4979
24AntimetabolitesPhase 49454
25Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 41804
26Hypolipidemic AgentsPhase 42228
27Anticholesteremic AgentsPhase 41732
28Calcium, DietaryPhase 4, Phase 34678
29Atorvastatin CalciumPhase 4714134523-03-8
30Phosphodiesterase InhibitorsPhase 41062
31diureticsPhase 41194
32HormonesPhase 411748
33Hormone AntagonistsPhase 410002
34Sodium Chloride Symporter InhibitorsPhase 4399
35Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 49988
36Mineralocorticoid Receptor AntagonistsPhase 4284
37Phosphodiesterase 5 InhibitorsPhase 4513
38Natriuretic AgentsPhase 41403
39MineralocorticoidsPhase 4301
40Immunologic FactorsPhase 418483
41Immunosuppressive AgentsPhase 410422
42Hypoglycemic AgentsPhase 44503
43Adrenergic beta-AgonistsPhase 41266
44Adrenergic AgonistsPhase 42331
45Protective AgentsPhase 45651
46Contraceptives, OralPhase 43734
47carnitineNutraceuticalPhase 4146
48
PerhexilineapprovedPhase 376621-47-24746
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
49
Maleic acidexperimentalPhase 3274110-16-7444972, 444266
Synonyms:
(2Z)-2-Butenedioate
(2Z)-2-Butenedioic acid
(2Z)-Butene-2-dioate
(2Z)-Butene-2-dioic acid
(2Z)-but-2-enedioate
(2Z)-but-2-enedioic acid
(Z)-2-Butenedioate
(Z)-2-Butenedioic acid
(z)-butenedioate
(z)-butenedioic acid
2-Butenedioate
2-Butenedioic acid
Cis-butenedioate
Cis-butenedioic acid
 
H2male
Kyselina maleinova
MAE
Maleate
Maleic acid
Maleic acid [NA2215]
Maleinic acid
Malenic acid
Malezid CM
Scotchbond multipurpose etchant
Toxilic acid
cis-1,2-Ethylenedicarboxylic acid
cis-2-Butenedioate
cis-2-Butenedioic acid
cis-But-2-enedioate
cis-But-2-enedioic acid
50calcium channel blockersPhase 31743

Interventional clinical trials:

(show all 21)
idNameStatusNCT IDPhase
1Ranolazine for the Treatment of Chest Pain in HCM PatientsCompletedNCT01721967Phase 4
2Effect of Beta-blockers on Structural Remodeling and Gene Expression in the Failing Human HeartCompletedNCT01798992Phase 4
3Assessment of Wall Thickness in Hypertrophic CardiomyopathyRecruitingNCT02234336Phase 4
4Clinical and Therapeutic Implications of Fibrosis in Hypertrophic CardiomyopathyRecruitingNCT00879060Phase 4
5REmodelling in Diabetic CardiOmapathy: Gender Response to PDE5i InhibiTOrsRecruitingNCT01803828Phase 4
6Effects of Spironolactone in DialysisRecruitingNCT01128101Phase 4
7Comparing the Effects of Spironolactone With Chlortalidone on LV Mass and Arterial Stiffness in Patients With CKDRecruitingNCT02502981Phase 4
8Effects of Atorvastatin Treatment on Left Ventricular Diastolic Function in Peritoneal Dialysis PatientsRecruitingNCT01503671Phase 4
9Identification of Carnitine-Responsive CardiomyopathyNot yet recruitingNCT01904396Phase 4
10SGLT2 Inhibition and Left Ventricular MassNot yet recruitingNCT02728453Phase 4
11The Effects of Dobutamine on Postoperative Cardiac Function in Aortic Valve ReplacementSuspendedNCT01375335Phase 4
12Aortic Stenosis and PhosphodiEsterase iNhibition With Aortic Valve Replacement (ASPEN-AVR): A Pilot StudyTerminatedNCT01272388Phase 4
13Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart FailureNot yet recruitingNCT02431221Phase 3
14Neurohormonal Parameters in Hypertrophic CardiomyopathiesCompletedNCT01729702
15Registry and Prevalence of Gene Mutation in Korean Patients With Familial Hypertrophic CardiomyopathyCompletedNCT01792960
16Long-Term Results of DDD Pacing in Obstructive Hypertrophic CardiomyopathyCompletedNCT00001530
17The Role of Heart Stiff and Weak Atrium on Exercise Capacity in Patients With Hypertrophic CardiomyopathyCompletedNCT00074880
18Comparisonof Extended Myoectomy and Myoectomy by Morrow in Patients With Hypertrophic Obstructive Cardiomyopathy (HOCM)RecruitingNCT02492399
19Study of Exercise Training in Hypertrophic CardiomyopathyActive, not recruitingNCT01127061
20Fabry's Disease and Pregnancy (PREFAB)Enrolling by invitationNCT02582294
21Reversible Pulmonary Artery Banding as Simplified Management of End-stage Dilated Left Ventriculopathy in Early LifeNot yet recruitingNCT02652676

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 4

Genetic Tests for Cardiomyopathy, Hypertrophic, 4

About this section

Anatomical Context for Cardiomyopathy, Hypertrophic, 4

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MalaCards organs/tissues related to Cardiomyopathy, Hypertrophic, 4:

33
Heart, Brain

Animal Models for Cardiomyopathy, Hypertrophic, 4 or affiliated genes

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Publications for Cardiomyopathy, Hypertrophic, 4

About this section

Variations for Cardiomyopathy, Hypertrophic, 4

About this section

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Hypertrophic, 4:

67 (show all 66)
id Symbol AA change Variation ID SNP ID
1MYBPC3p.Glu542GlnVAR_003917
2MYBPC3p.Arg654HisVAR_003918rs1800565
3MYBPC3p.Asn755LysVAR_003919
4MYBPC3p.His257ProVAR_019889
5MYBPC3p.Glu258LysVAR_019890
6MYBPC3p.Gly278GluVAR_019891rs147315081
7MYBPC3p.Gly279AlaVAR_019892
8MYBPC3p.Leu352ProVAR_019894
9MYBPC3p.Arg502TrpVAR_019895
10MYBPC3p.Lys811ArgVAR_019897
11MYBPC3p.Ala833ValVAR_019898rs3729952
12MYBPC3p.Ala1194ThrVAR_019900
13MYBPC3p.Ala1255ThrVAR_019901
14MYBPC3p.Gln998GluVAR_020574rs11570112
15MYBPC3p.Glu451GlnVAR_027879
16MYBPC3p.Arg495GlnVAR_027880
17MYBPC3p.Arg502GlnVAR_027881
18MYBPC3p.Gly5ArgVAR_029390
19MYBPC3p.Thr59AlaVAR_029391
20MYBPC3p.Pro161SerVAR_029392
21MYBPC3p.Val219LeuVAR_029393
22MYBPC3p.Asp228AsnVAR_029394
23MYBPC3p.Tyr237SerVAR_029395
24MYBPC3p.Val256IleVAR_029396
25MYBPC3p.Arg282TrpVAR_029397
26MYBPC3p.Arg458HisVAR_029399
27MYBPC3p.Gly490ArgVAR_029400
28MYBPC3p.Gly507ArgVAR_029401rs35736435
29MYBPC3p.Gly523TrpVAR_029402
30MYBPC3p.Cys566ArgVAR_029404
31MYBPC3p.Asp604ValVAR_029405
32MYBPC3p.Pro608LeuVAR_029407
33MYBPC3p.Arg668HisVAR_029408
34MYBPC3p.Arg668ProVAR_029409
35MYBPC3p.Arg733CysVAR_029410
36MYBPC3p.Asp770AsnVAR_029411rs36211723
37MYBPC3p.Trp792ArgVAR_029412
38MYBPC3p.Arg810HisVAR_029413
39MYBPC3p.Arg820GlnVAR_029416rs2856655
40MYBPC3p.Ala833ThrVAR_029417
41MYBPC3p.Arg834ThrVAR_029418
42MYBPC3p.Pro873HisVAR_029420
43MYBPC3p.Asn948ThrVAR_029421
44MYBPC3p.Gln998ArgVAR_029422
45MYBPC3p.Arg1002GlnVAR_029423
46MYBPC3p.Pro1003GlnVAR_029425
47MYBPC3p.Phe1113IleVAR_029426
48MYBPC3p.Val1115IleVAR_029427
49MYBPC3p.Gly263ArgVAR_042740
50MYBPC3p.Arg273HisVAR_042741
51MYBPC3p.Ala417SerVAR_042742
52MYBPC3p.Leu669HisVAR_042743
53MYBPC3p.Glu759AspVAR_042744
54MYBPC3p.Arg495GlyVAR_045929
55MYBPC3p.Thr1028SerVAR_045930
56MYBPC3p.Gly1248ArgVAR_045931
57MYBPC3p.Arg272CysVAR_070449
58MYBPC3p.Ile336ValVAR_070450
59MYBPC3p.Gly490ValVAR_070451
60MYBPC3p.Thr957SerVAR_070453
61MYBPC3p.Thr958IleVAR_070454
62MYBPC3p.Glu334LysVAR_074539
63MYBPC3p.Val342AspVAR_074540
64MYBPC3p.Ala627ValVAR_074541
65MYBPC3p.Val771MetVAR_074542
66MYBPC3p.Thr1046MetVAR_074544

Clinvar genetic disease variations for Cardiomyopathy, Hypertrophic, 4:

5 (show all 224)
id Gene Variation Type Significance SNP ID Assembly Location
1MYBPC3NM_000256.3(MYBPC3): c.3190+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs587782958GRCh38Chr 11, 47333552: 47333552
2MYBPC3NM_000256.3(MYBPC3): c.3642G> A (p.Trp1214Ter)single nucleotide variantLikely pathogenic, Pathogenicrs368765949GRCh37Chr 11, 47353795: 47353795
3MYBPC3NM_000256.3(MYBPC3): c.3776delA (p.Gln1259Argfs)deletionLikely pathogenic, Pathogenicrs727503166GRCh37Chr 11, 47353661: 47353661
4MYBPC3NM_000256.3(MYBPC3): c.3605G> A (p.Cys1202Tyr)single nucleotide variantLikely pathogenicrs727503170GRCh37Chr 11, 47354139: 47354139
5MYBPC3NM_000256.3(MYBPC3): c.3288delG (p.Glu1096Aspfs)deletionPathogenicrs727503172GRCh37Chr 11, 47354787: 47354787
6MYBPC3NM_000256.3(MYBPC3): c.3166dupG (p.Ala1056Glyfs)duplicationPathogenicrs727503174GRCh37Chr 11, 47355132: 47355132
7MYBPC3NM_000256.3(MYBPC3): c.3129C> A (p.Tyr1043Ter)single nucleotide variantPathogenicrs573821685GRCh37Chr 11, 47355169: 47355169
8MYBPC3NM_000256.3(MYBPC3): c.3089_3101delTGTTCATCCGGGC (p.Leu1030Profs)deletionLikely pathogenic, Pathogenicrs727503175GRCh37Chr 11, 47355197: 47355209
9MYBPC3NM_000256.3(MYBPC3): c.2994+2T> Csingle nucleotide variantPathogenicrs727503176GRCh37Chr 11, 47355471: 47355471
10MYBPC3NM_000256.3(MYBPC3): c.2965G> T (p.Glu989Ter)single nucleotide variantPathogenicrs727503178GRCh37Chr 11, 47355502: 47355502
11MYBPC3NM_000256.3(MYBPC3): c.2920C> T (p.Gln974Ter)single nucleotide variantPathogenicrs727503180GRCh37Chr 11, 47355547: 47355547
12MYBPC3NM_000256.3(MYBPC3): c.2875_2876delAC (p.Thr959Glyfs)deletionPathogenicrs727503182GRCh37Chr 11, 47356622: 47356623
13MYBPC3NM_000256.3(MYBPC3): c.2737+2T> Asingle nucleotide variantPathogenicrs727503184GRCh37Chr 11, 47357426: 47357426
14MYBPC3NM_000256.3(MYBPC3): c.2556delC (p.Ile852Metfs)deletionPathogenicrs727503186GRCh37Chr 11, 47358988: 47358988
15MYBPC3NM_000256.3(MYBPC3): c.2517_2538del22 (p.Val840Thrfs)deletionPathogenicrs727503187GRCh37Chr 11, 47359006: 47359027
16MYBPC3NM_000256.3(MYBPC3): c.1999_2000delCTinsG (p.Leu667Aspfs)indelPathogenicrs727503192GRCh37Chr 11, 47361269: 47361270
17MYBPC3NM_000256.3(MYBPC3): c.1869C> A (p.Cys623Ter)single nucleotide variantPathogenicrs397515932GRCh37Chr 11, 47362717: 47362717
18MYBPC3NM_000256.3(MYBPC3): c.1624+2T> Csingle nucleotide variantPathogenicrs111437311GRCh37Chr 11, 47364127: 47364127
19MYBPC3NM_000256.3(MYBPC3): c.1484G> A (p.Arg495Gln)single nucleotide variantLikely pathogenic, Pathogenicrs200411226GRCh37Chr 11, 47364269: 47364269
20MYBPC3NM_000256.3(MYBPC3): c.1357_1358delCC (p.Pro453Cysfs)deletionPathogenicrs727503203GRCh37Chr 11, 47364480: 47364481
21MYBPC3NM_000256.3(MYBPC3): c.1351+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs727503204GRCh37Chr 11, 47364571: 47364571
22MYBPC3NM_000256.3(MYBPC3): c.993dupT (p.Glu332Terfs)duplicationPathogenicrs727503209GRCh37Chr 11, 47367855: 47367855
23MYBPC3NM_000256.3(MYBPC3): c.979C> T (p.Gln327Ter)single nucleotide variantPathogenicrs727503210GRCh37Chr 11, 47367869: 47367869
24MYBPC3NM_000256.3(MYBPC3): c.966G> A (p.Trp322Ter)single nucleotide variantPathogenicrs727503211GRCh38Chr 11, 47346331: 47346331
25MYBPC3NM_000256.3(MYBPC3): c.833delG (p.Gly278Glufs)deletionLikely pathogenic, Pathogenicrs727503212GRCh37Chr 11, 47369220: 47369220
26MYBPC3NM_000256.3(MYBPC3): c.533delT (p.Val178Glyfs)deletionPathogenicrs727503217GRCh37Chr 11, 47371446: 47371446
27MYBPC3NM_000256.3(MYBPC3): c.505+5G> Csingle nucleotide variantPathogenicrs727503219GRCh37Chr 11, 47371560: 47371560
28MYBPC3NM_000256.3(MYBPC3): c.343G> T (p.Gly115Ter)single nucleotide variantLikely pathogenicrs727503220GRCh37Chr 11, 47372116: 47372116
29MYBPC3NM_000256.3(MYBPC3): c.844C> T (p.Arg282Trp)single nucleotide variantPathogenicrs727504234GRCh37Chr 11, 47369209: 47369209
30MYBPC3NM_000256.3(MYBPC3): c.1628delA (p.Lys543Argfs)deletionPathogenicrs727504248GRCh37Chr 11, 47363704: 47363704
31MYBPC3NM_000256.3(MYBPC3): c.2437A> T (p.Lys813Ter)single nucleotide variantPathogenicrs727504252GRCh37Chr 11, 47359107: 47359107
32MYBPC3NM_000256.3(MYBPC3): c.2780_2781delCA (p.Thr927Ilefs)deletionPathogenicrs727504265GRCh37Chr 11, 47356717: 47356718
33MYBPC3NM_000256.3(MYBPC3): c.1090+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs727504269GRCh37Chr 11, 47367757: 47367757
34MYBPC3NM_000256.3(MYBPC3): c.3600_3609delCTGCTGTGCT (p.Cys1201Serfs)deletionLikely pathogenic, Pathogenicrs727504271GRCh37Chr 11, 47354135: 47354144
35MYBPC3NM_000256.3(MYBPC3): c.333dupT (p.Glu112Terfs)duplicationPathogenicrs730880335GRCh37Chr 11, 47372126: 47372126
36MYBPC3NM_000256.3(MYBPC3): c.3628-41_3628-17deldeletionLikely pathogenicrs36212066GRCh37Chr 11, 47353826: 47353850
37MYBPC3NM_000256.3(MYBPC3): c.3335G> A (p.Trp1112Ter)single nucleotide variantPathogenicrs727504276GRCh37Chr 11, 47354520: 47354520
38MYBPC3NM_000256.3(MYBPC3): c.1343T> C (p.Phe448Ser)single nucleotide variantLikely pathogenicrs727504279GRCh37Chr 11, 47364580: 47364580
39MYBPC3NM_000256.3(MYBPC3): c.1090+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs727504269GRCh37Chr 11, 47367757: 47367757
40MYBPC3NM_000256.3(MYBPC3): c.1038_1042dupCGGCA (p.Met348Thrfs)duplicationPathogenicrs730880336GRCh38Chr 11, 47346255: 47346259
41MYBPC3NM_000256.3(MYBPC3): c.3372C> A (p.Cys1124Ter)single nucleotide variantPathogenicrs727504289GRCh37Chr 11, 47354483: 47354483
42MYBPC3NM_000256.3(MYBPC3): c.1924C> T (p.Gln642Ter)single nucleotide variantLikely pathogenic, Pathogenicrs727504293GRCh37Chr 11, 47362557: 47362557
43MYBPC3NM_000256.3(MYBPC3): c.999C> G (p.Tyr333Ter)single nucleotide variantPathogenicrs367947846GRCh37Chr 11, 47367849: 47367849
44MYBPC3NM_000256.3(MYBPC3): c.3332_3335dupAGTG (p.Trp1112Terfs)duplicationPathogenicrs730880337GRCh38Chr 11, 47332969: 47332972
45MYBPC3NM_000256.3(MYBPC3): c.3331-1G> Asingle nucleotide variantPathogenicrs727504305GRCh37Chr 11, 47354525: 47354525
46MYBPC3NM_000256.3(MYBPC3): c.2737+1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs727504314GRCh37Chr 11, 47357427: 47357427
47MYBPC3NM_000256.3(MYBPC3): c.3476_3477delTT (p.Phe1159Tyrfs)deletionPathogenicrs727504321GRCh37Chr 11, 47354378: 47354379
48MYBPC3NM_000256.3(MYBPC3): c.1210C> T (p.Gln404Ter)single nucleotide variantPathogenicrs727504329GRCh37Chr 11, 47365056: 47365056
49MYBPC3NM_000256.3(MYBPC3): c.2906-2A> Gsingle nucleotide variantPathogenicrs727504333GRCh37Chr 11, 47355563: 47355563
50MYBPC3NM_000256.3(MYBPC3): c.2149-1G> Asingle nucleotide variantPathogenicrs727504334GRCh37Chr 11, 47360231: 47360231
51MYBPC3NM_000256.3(MYBPC3): c.3753T> G (p.Tyr1251Ter)single nucleotide variantPathogenicrs397516039GRCh37Chr 11, 47353684: 47353684
52MYBPC3NM_000256.3(MYBPC3): c.2747G> A (p.Trp916Ter)single nucleotide variantPathogenicrs727504349GRCh37Chr 11, 47356751: 47356751
53MYBPC3NM_000256.3(MYBPC3): c.3190+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs111683277GRCh37Chr 11, 47355107: 47355107
54MYBPC3NM_000256.3(MYBPC3): c.1000G> T (p.Glu334Ter)single nucleotide variantLikely pathogenic, Pathogenicrs573916965GRCh37Chr 11, 47367848: 47367848
55MYBPC3NM_000256.3(MYBPC3): c.2541C> A (p.Tyr847Ter)single nucleotide variantPathogenicrs397515974GRCh37Chr 11, 47359003: 47359003
56MYBPC3NM_000256.3(MYBPC3): c.2394dupT (p.Gly799Trpfs)duplicationLikely pathogenic, Pathogenicrs730880341GRCh37Chr 11, 47359260: 47359260
57MYBPC3NM_000256.3(MYBPC3): c.1678delG (p.Asp560Thrfs)deletionPathogenicrs727504366GRCh37Chr 11, 47363654: 47363654
58MYBPC3NM_000256.3(MYBPC3): c.2604_2605delTCinsA (p.Ser871Alafs)indelPathogenicrs727504371GRCh37Chr 11, 47357560: 47357561
59MYBPC3NM_000256.3(MYBPC3): c.3825A> G (p.Ter1275Trp)single nucleotide variantLikely pathogenicrs727504380GRCh37Chr 11, 47353422: 47353422
60MYBPC3NM_000256.3(MYBPC3): c.3690_3691delCA (p.Phe1230Leufs)deletionPathogenicrs727504390GRCh37Chr 11, 47353746: 47353747
61MYBPC3NM_000256.3(MYBPC3): c.2671C> T (p.Arg891Trp)single nucleotide variantLikely pathogenicrs727504418GRCh37Chr 11, 47357494: 47357494
62MYBPC3NM_000256.3(MYBPC3): c.2953A> T (p.Lys985Ter)single nucleotide variantPathogenicrs727504423GRCh37Chr 11, 47355514: 47355514
63MYBPC3NM_000256.3(MYBPC3): c.821+1G> Csingle nucleotide variantPathogenicrs397516073GRCh37Chr 11, 47369407: 47369407
64MYBPC3NM_000256.3(MYBPC3): c.2391C> A (p.Tyr797Ter)single nucleotide variantLikely pathogenic, Pathogenicrs727504864GRCh37Chr 11, 47359263: 47359263
65MYBPC3NM_000256.3(MYBPC3): c.3644dupT (p.Lys1216Glnfs)duplicationPathogenicrs730880361GRCh38Chr 11, 47332242: 47332242
66MYBPC3NM_000256.3(MYBPC3): c.214_215dupGG (p.Pro73Alafs)duplicationPathogenicrs730880362GRCh38Chr 11, 47351316: 47351317
67MYBPC3NM_000256.3(MYBPC3): c.466dupC (p.Leu156Profs)duplicationPathogenicrs730880366GRCh38Chr 11, 47350053: 47350053
68MYBPC3NM_000256.3(MYBPC3): c.1330delA (p.Ser444Alafs)deletionPathogenicrs727505152GRCh38Chr 11, 47343042: 47343042
69MYBPC3NM_000256.3(MYBPC3): c.1227-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs730880531GRCh38Chr 11, 47343147: 47343147
70MYBPC3NM_000256.3(MYBPC3): c.484C> T (p.Gln162Ter)single nucleotide variantPathogenicrs730880618GRCh38Chr 11, 47350035: 47350035
71MYBPC3NM_000256.3(MYBPC3): c.1700_1701delAG (p.Glu567Glyfs)deletionPathogenicrs727503197GRCh38Chr 11, 47342080: 47342081
72MYBPC3NM_000256.3(MYBPC3): c.1358dupC (p.Val454Cysfs)duplicationLikely pathogenic, Pathogenicrs730880711GRCh37Chr 11, 47364480: 47364480
73MYBPC3NM_000256.3(MYBPC3): c.179_180delAG (p.Glu60Glyfs)deletionPathogenicrs786204324GRCh38Chr 11, 47351351: 47351352
74MYBPC3NM_000256.3(MYBPC3): c.506-1G> Csingle nucleotide variantLikely pathogenicrs397516056GRCh38Chr 11, 47349923: 47349923
75MYBPC3NM_000256.3(MYBPC3): c.541_542dupGC (p.Ser182Profs)duplicationLikely pathogenicrs786204327GRCh38Chr 11, 47349886: 47349887
76MYBPC3NM_000256.3(MYBPC3): c.655G> T (p.Val219Phe)single nucleotide variantLikely pathogenicrs397516068GRCh38Chr 11, 47348541: 47348541
77MYBPC3NM_000256.3(MYBPC3): c.676_701dup26 (p.Gly235Serfs)duplicationPathogenicrs786204329GRCh38Chr 11, 47348495: 47348520
78MYBPC3NM_000256.3(MYBPC3): c.779delT (p.Met260Argfs)deletionLikely pathogenicrs786204332GRCh37Chr 11, 47369450: 47369450
79MYBPC3NM_000256.3(MYBPC3): c.1351G> T (p.Glu451Ter)single nucleotide variantLikely pathogenicrs786204338GRCh38Chr 11, 47343021: 47343021
80MYBPC3NM_000256.3(MYBPC3): c.1377delC (p.Leu460Trpfs)deletionLikely pathogenicrs786204339GRCh38Chr 11, 47342910: 47342910
81MYBPC3NM_000256.3(MYBPC3): c.1513A> T (p.Lys505Ter)single nucleotide variantLikely pathogenicrs786204340GRCh38Chr 11, 47342689: 47342689
82MYBPC3NM_000256.3(MYBPC3): c.1625-27_1691deldeletionLikely pathogenicGRCh38Chr 11, 47342090: 47342183
83MYBPC3NM_000256.3(MYBPC3): c.1999_2000delCTinsA (p.Leu667Asnfs)indelPathogenicrs727503192GRCh38Chr 11, 47339718: 47339719
84MYBPC3NM_000256.3(MYBPC3): c.2846dupT (p.Met949Ilefs)duplicationLikely pathogenicrs786204352GRCh38Chr 11, 47335101: 47335101
85MYBPC3NM_000256.3(MYBPC3): c.3491-2A> Gsingle nucleotide variantLikely pathogenicrs397516022GRCh38Chr 11, 47332704: 47332704
86MYBPC3NM_000256.3(MYBPC3): c.3763delG (p.Ala1255Profs)deletionLikely pathogenicrs786204362GRCh38Chr 11, 47332123: 47332123
87NM_000256.3(MYBPC3): c.-2053_*2307deldeletionLikely pathogenicGRCh37Chr 11, 47350987: 47376251
88MYBPC3MYBPC3, 2-BP DEL, 912TTdeletionPathogenic
89MYBPC3NM_000256.3(MYBPC3): c.2065C> T (p.Gln689Ter)single nucleotide variantLikely pathogenic, Pathogenicrs863224483GRCh38Chr 11, 47339653: 47339653
90MYBPC3NM_000256.3(MYBPC3): c.2414-1G> Asingle nucleotide variantLikely pathogenicrs863224899GRCh38Chr 11, 47337580: 47337580
91MYBPC3NM_000256.3(MYBPC3): c.1357C> T (p.Pro453Ser)single nucleotide variantLikely pathogenicrs749310275GRCh37Chr 11, 47364481: 47364481
92MYBPC3NM_000256.3(MYBPC3): c.2670dupG (p.Arg891Alafs)duplicationLikely pathogenicrs863225104GRCh37Chr 11, 47357495: 47357495
93MYBPC3NM_000256.3(MYBPC3): c.2550delC (p.Asn850Lysfs)deletionLikely pathogenicrs863225105GRCh38Chr 11, 47337443: 47337443
94MYBPC3NM_000256.3(MYBPC3): c.2371C> T (p.Gln791Ter)single nucleotide variantLikely pathogenicrs863225106GRCh37Chr 11, 47359283: 47359283
95MYBPC3NM_000256.3(MYBPC3): c.3662delT (p.Leu1221Argfs)deletionLikely pathogenicrs863225107GRCh37Chr 11, 47353775: 47353775
96MYBPC3NM_000256.3(MYBPC3): c.306delC (p.Met103Cysfs)deletionLikely pathogenicrs863225109GRCh38Chr 11, 47350602: 47350602
97MYBPC3NM_000256.3(MYBPC3): c.227dupA (p.Ser78Ilefs)duplicationLikely pathogenicrs863225111GRCh37Chr 11, 47372855: 47372855
98MYBPC3NM_000256.3(MYBPC3): c.2376G> A (p.Trp792Ter)single nucleotide variantLikely pathogenicrs863225112GRCh37Chr 11, 47359278: 47359278
99MYBPC3NM_000256.3(MYBPC3): c.3300C> A (p.Tyr1100Ter)single nucleotide variantLikely pathogenicrs863225113GRCh37Chr 11, 47354775: 47354775
100MYBPC3NM_000256.3(MYBPC3): c.3414dupC (p.Val1139Argfs)duplicationLikely pathogenicrs863225114GRCh37Chr 11, 47354441: 47354441
101MYBPC3NM_000256.3(MYBPC3): c.2234A> G (p.Asp745Gly)single nucleotide variantPathogenicrs727503190GRCh37Chr 11, 47360145: 47360145
102MYBPC3NM_000256.3(MYBPC3): c.2618C> A (p.Pro873His)single nucleotide variantLikely pathogenic, Pathogenicrs371401403GRCh37Chr 11, 47357547: 47357547
103MYBPC3NM_000256.3(MYBPC3): c.2308G> A (p.Asp770Asn)single nucleotide variantLikely pathogenic, Pathogenicrs36211723GRCh37Chr 11, 47360071: 47360071
104MYBPC3NM_000256.3(MYBPC3): c.2374T> C (p.Trp792Arg)single nucleotide variantLikely pathogenic, Pathogenicrs187830361GRCh37Chr 11, 47359280: 47359280
105MYBPC3NM_000256.3(MYBPC3): c.3408C> A (p.Tyr1136Ter)single nucleotide variantPathogenicrs193922383GRCh37Chr 11, 47354447: 47354447
106MYBPC3NM_000256.3(MYBPC3): c.932C> A (p.Ser311Ter)single nucleotide variantLikely pathogenic, Pathogenicrs193922386GRCh37Chr 11, 47367916: 47367916
107MYBPC3NM_000256.3(MYBPC3): c.2827C> T (p.Arg943Ter)single nucleotide variantPathogenicrs387907267GRCh37Chr 11, 47356671: 47356671
108MYBPC3NM_000256.3(MYBPC3): c.1156G> T (p.Glu386Ter)single nucleotide variantPathogenicrs397515888GRCh37Chr 11, 47365110: 47365110
109MYBPC3NM_000256.3(MYBPC3): c.1168delC (p.His390Metfs)deletionPathogenicrs397515889GRCh37Chr 11, 47365098: 47365098
110MYBPC3NM_000256.3(MYBPC3): c.1224-2A> Gsingle nucleotide variantPathogenicrs397515891GRCh37Chr 11, 47364815: 47364815
111MYBPC3NM_000256.3(MYBPC3): c.1227-13G> Asingle nucleotide variantLikely pathogenicrs397515893GRCh37Chr 11, 47364709: 47364709
112MYBPC3NM_000256.3(MYBPC3): c.1235_1236delTT (p.Phe412Terfs)deletionPathogenicrs397515894GRCh37Chr 11, 47364687: 47364688
113MYBPC3NM_000256.3(MYBPC3): c.1273C> T (p.Gln425Ter)single nucleotide variantPathogenicrs397515895GRCh37Chr 11, 47364650: 47364650
114MYBPC3NM_000256.3(MYBPC3): c.1310delT (p.Val437Glyfs)deletionPathogenicrs397515896GRCh37Chr 11, 47364613: 47364613
115MYBPC3NM_000256.3(MYBPC3): c.1351+2T> Csingle nucleotide variantPathogenicrs397515897GRCh37Chr 11, 47364570: 47364570
116MYBPC3NM_000256.3(MYBPC3): c.1458-1G> Asingle nucleotide variantPathogenicrs397515903GRCh37Chr 11, 47364296: 47364296
117MYBPC3NM_000256.3(MYBPC3): c.1468G> A (p.Gly490Arg)single nucleotide variantPathogenicrs200625851GRCh37Chr 11, 47364285: 47364285
118MYBPC3NM_000256.3(MYBPC3): c.1483C> G (p.Arg495Gly)single nucleotide variantLikely pathogenic, Pathogenicrs397515905GRCh37Chr 11, 47364270: 47364270
119MYBPC3NM_000256.3(MYBPC3): c.1504C> T (p.Arg502Trp)single nucleotide variantPathogenicrs375882485GRCh37Chr 11, 47364249: 47364249
120MYBPC3NM_000256.3(MYBPC3): c.1505G> A (p.Arg502Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397515907GRCh37Chr 11, 47364248: 47364248
121MYBPC3NM_000256.3(MYBPC3): c.1575T> G (p.Tyr525Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397515910GRCh37Chr 11, 47364178: 47364178
122MYBPC3NM_000256.3(MYBPC3): c.1624+4A> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs397515916GRCh37Chr 11, 47364125: 47364125
123MYBPC3NM_000256.3(MYBPC3): c.1693A> T (p.Lys565Ter)single nucleotide variantPathogenicrs397515920GRCh37Chr 11, 47363639: 47363639
124MYBPC3NM_000256.3(MYBPC3): c.177_187delAGAGGGCACAC (p.Glu60Alafs)deletionPathogenicrs397515925GRCh37Chr 11, 47372895: 47372905
125MYBPC3NM_000256.3(MYBPC3): c.1800delA (p.Lys600Asnfs)deletionPathogenicrs397515926GRCh37Chr 11, 47362786: 47362786
126MYBPC3NM_000256.3(MYBPC3): c.1863delC (p.Phe621Leufs)deletionPathogenicrs397515931GRCh37Chr 11, 47362723: 47362723
127MYBPC3NM_000256.3(MYBPC3): c.1892delT (p.Phe631Serfs)deletionPathogenicrs397515933GRCh37Chr 11, 47362694: 47362694
128MYBPC3NM_000256.3(MYBPC3): c.1895delT (p.Met632Argfs)deletionPathogenicrs397515934GRCh37Chr 11, 47362691: 47362691
129MYBPC3NM_000256.3(MYBPC3): c.1897+1G> Asingle nucleotide variantPathogenicrs397515935GRCh37Chr 11, 47362688: 47362688
130MYBPC3NM_000256.3(MYBPC3): c.1928-2A> Gsingle nucleotide variantPathogenicrs397515937GRCh37Chr 11, 47361343: 47361343
131MYBPC3NM_000256.3(MYBPC3): c.2048G> A (p.Trp683Ter)single nucleotide variantPathogenicrs397515942GRCh37Chr 11, 47361221: 47361221
132MYBPC3NM_000256.3(MYBPC3): c.2013_2016delCCCTinsGG (p.Pro672Aspfs)indelPathogenicrs397515943GRCh37Chr 11, 47361253: 47361256
133MYBPC3NM_000256.3(MYBPC3): c.2040dupT (p.Val681Cysfs)duplicationPathogenicrs397515944GRCh37Chr 11, 47361229: 47361229
134MYBPC3NM_000256.3(MYBPC3): c.2096delC (p.Pro699Glnfs)deletionPathogenicrs397515947GRCh37Chr 11, 47360927: 47360927
135MYBPC3NM_000256.3(MYBPC3): c.2113dupA (p.Thr705Asnfs)duplicationPathogenicrs397515948GRCh37Chr 11, 47360910: 47360910
136MYBPC3NM_000256.3(MYBPC3): c.2163delC (p.Glu722Argfs)deletionPathogenicrs397515952GRCh37Chr 11, 47360216: 47360216
137MYBPC3NM_000256.3(MYBPC3): c.2182G> T (p.Glu728Ter)single nucleotide variantPathogenicrs397515954GRCh37Chr 11, 47360197: 47360197
138MYBPC3NM_000256.3(MYBPC3): c.2308+1G> Asingle nucleotide variantPathogenicrs112738974GRCh37Chr 11, 47360070: 47360070
139MYBPC3NM_000256.3(MYBPC3): c.2308+1G> Tsingle nucleotide variantPathogenicrs112738974GRCh37Chr 11, 47360070: 47360070
140MYBPC3NM_000256.3(MYBPC3): c.2309-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs111729952GRCh37Chr 11, 47359347: 47359347
141MYBPC3NM_000256.3(MYBPC3): c.2311dupG (p.Val771Glyfs)duplicationPathogenicrs397515960GRCh37Chr 11, 47359343: 47359343
142MYBPC3NM_000256.3(MYBPC3): c.2373dupG (p.Trp792Valfs)duplicationPathogenicrs397515963GRCh37Chr 11, 47359281: 47359281
143MYBPC3NM_000256.3(MYBPC3): c.2454G> A (p.Trp818Ter)single nucleotide variantPathogenicrs397515965GRCh37Chr 11, 47359090: 47359090
144MYBPC3NM_000256.3(MYBPC3): c.2490dupT (p.His831Serfs)duplicationLikely pathogenic, Pathogenicrs397515966GRCh37Chr 11, 47359054: 47359054
145MYBPC3NM_000256.3(MYBPC3): c.2524dupT (p.Tyr842Leufs)duplicationPathogenicrs397515970GRCh37Chr 11, 47359020: 47359020
146MYBPC3NM_000256.3(MYBPC3): c.2528_2536delAGATGCGCG (p.Glu843_Arg845del)deletionLikely pathogenicrs397515972GRCh37Chr 11, 47359008: 47359016
147MYBPC3NM_000256.3(MYBPC3): c.2534_2538delGCGTC (p.Arg845Leufs)deletionPathogenicrs397515973GRCh37Chr 11, 47359006: 47359010
148MYBPC3NM_000256.3(MYBPC3): c.2541C> G (p.Tyr847Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397515974GRCh37Chr 11, 47359003: 47359003
149MYBPC3NM_000256.3(MYBPC3): c.2556_2557delCGinsTCT (p.Gly853Leufs)indelPathogenicrs397515975GRCh37Chr 11, 47358987: 47358988
150MYBPC3NM_000256.3(MYBPC3): c.2558delG (p.Gly853Alafs)deletionPathogenicrs397515977GRCh37Chr 11, 47358986: 47358986
151MYBPC3NM_000256.3(MYBPC3): c.26-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs376395543GRCh37Chr 11, 47373058: 47373058
152MYBPC3NM_000256.3(MYBPC3): c.2610dupC (p.Ser871Glnfs)duplicationPathogenicrs397515979GRCh37Chr 11, 47357555: 47357555
153MYBPC3NM_000256.3(MYBPC3): c.2670G> A (p.Trp890Ter)single nucleotide variantPathogenicrs397515982GRCh37Chr 11, 47357495: 47357495
154MYBPC3NM_000256.3(MYBPC3): c.2833_2834delCG (p.Arg945Glyfs)deletionPathogenicrs397515987GRCh37Chr 11, 47356664: 47356665
155MYBPC3NM_000256.3(MYBPC3): c.2864_2865delCT (p.Pro955Argfs)deletionLikely pathogenic, Pathogenicrs397515990GRCh37Chr 11, 47356633: 47356634
156MYBPC3NM_000256.3(MYBPC3): c.2905+1G> Asingle nucleotide variantPathogenicrs397515991GRCh37Chr 11, 47356592: 47356592
157MYBPC3NM_000256.3(MYBPC3): c.2905+1G> Csingle nucleotide variantPathogenicrs397515991GRCh37Chr 11, 47356592: 47356592
158MYBPC3NM_000256.3(MYBPC3): c.2905C> T (p.Gln969Ter)single nucleotide variantPathogenicrs397515992GRCh37Chr 11, 47356593: 47356593
159MYBPC3NM_000256.3(MYBPC3): c.2943_2947delGACCA (p.Gln981Hisfs)deletionPathogenicrs397515995GRCh37Chr 11, 47355520: 47355524
160MYBPC3NM_000256.3(MYBPC3): c.3040delC (p.Leu1014Trpfs)deletionLikely pathogenic, Pathogenicrs397515997GRCh37Chr 11, 47355258: 47355258
161MYBPC3NM_000256.3(MYBPC3): c.3068dupA (p.Asn1023Lysfs)duplicationPathogenicrs397516001GRCh37Chr 11, 47355230: 47355230
162MYBPC3NM_000256.3(MYBPC3): c.3181C> T (p.Gln1061Ter)single nucleotide variantPathogenicrs397516005GRCh37Chr 11, 47355117: 47355117
163MYBPC3NM_000256.3(MYBPC3): c.3190+2T> Gsingle nucleotide variantPathogenicrs113358486GRCh37Chr 11, 47355106: 47355106
164MYBPC3NM_000256.3(MYBPC3): c.3233G> A (p.Trp1078Ter)single nucleotide variantPathogenicrs397516006GRCh37Chr 11, 47354842: 47354842
165MYBPC3NM_000256.3(MYBPC3): c.3192dupC (p.Lys1065Glnfs)duplicationPathogenicrs397516007GRCh37Chr 11, 47354883: 47354883
166MYBPC3NM_000256.3(MYBPC3): c.3226_3227insT (p.Asp1076Valfs)insertionPathogenicrs397516008GRCh37Chr 11, 47354848: 47354849
167MYBPC3NM_000256.3(MYBPC3): c.3253G> T (p.Glu1085Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516010GRCh37Chr 11, 47354822: 47354822
168MYBPC3NM_000256.3(MYBPC3): c.3293G> A (p.Trp1098Ter)single nucleotide variantPathogenicrs397516013GRCh37Chr 11, 47354782: 47354782
169MYBPC3NM_000256.3(MYBPC3): c.3297dupG (p.Tyr1100Valfs)duplicationLikely pathogenic, Pathogenicrs397516014GRCh37Chr 11, 47354778: 47354778
170MYBPC3NM_000256.3(MYBPC3): c.3330+5G> Csingle nucleotide variantPathogenicrs373746463GRCh37Chr 11, 47354740: 47354740
171MYBPC3NM_000256.3(MYBPC3): c.3330+5G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs373746463GRCh37Chr 11, 47354740: 47354740
172MYBPC3NM_000256.3(MYBPC3): c.3476_3479dupTTAT (p.Pro1161Tyrfs)duplicationPathogenicrs397516019GRCh37Chr 11, 47354376: 47354379
173MYBPC3NM_000256.3(MYBPC3): c.3490+1G> Asingle nucleotide variantPathogenicrs397516020GRCh37Chr 11, 47354364: 47354364
174MYBPC3NM_000256.3(MYBPC3): c.3491-2A> Tsingle nucleotide variantPathogenicrs397516022GRCh37Chr 11, 47354255: 47354255
175MYBPC3NM_000256.3(MYBPC3): c.350delC (p.Pro117Leufs)deletionPathogenicrs397516023GRCh37Chr 11, 47372109: 47372109
176MYBPC3NM_000256.3(MYBPC3): c.3624dupC (p.Lys1209Glnfs)duplicationLikely pathogenic, Pathogenicrs397516029GRCh37Chr 11, 47354120: 47354120
177MYBPC3NM_000256.3(MYBPC3): c.3624delC (p.Lys1209Serfs)deletionPathogenicrs397516030GRCh37Chr 11, 47354120: 47354120
178MYBPC3NM_000256.3(MYBPC3): c.3627+1G> Asingle nucleotide variantPathogenicrs397516031GRCh37Chr 11, 47354116: 47354116
179MYBPC3NM_000256.3(MYBPC3): c.362delC (p.Pro121Argfs)deletionPathogenicrs397516032GRCh37Chr 11, 47372097: 47372097
180MYBPC3NM_000256.3(MYBPC3): c.3694A> T (p.Lys1232Ter)single nucleotide variantPathogenicrs397516035GRCh37Chr 11, 47353743: 47353743
181MYBPC3NM_000256.3(MYBPC3): c.3697C> T (p.Gln1233Ter)single nucleotide variantPathogenicrs397516037GRCh37Chr 11, 47353740: 47353740
182MYBPC3NM_000256.3(MYBPC3): c.3735delC (p.Phe1246Leufs)deletionLikely pathogenicrs397516038GRCh37Chr 11, 47353702: 47353702
183MYBPC3NM_000256.3(MYBPC3): c.3767_3769delCCA (p.Thr1256del)deletionLikely pathogenicrs397516040GRCh37Chr 11, 47353668: 47353670
184MYBPC3NM_000256.3(MYBPC3): c.3797G> A (p.Cys1266Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs397516041GRCh37Chr 11, 47353640: 47353640
185MYBPC3NM_000256.3(MYBPC3): c.3811C> T (p.Arg1271Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516042GRCh37Chr 11, 47353626: 47353626
186MYBPC3NM_000256.3(MYBPC3): c.3815-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397516044GRCh37Chr 11, 47353433: 47353433
187MYBPC3NM_000256.3(MYBPC3): c.3G> C (p.Met1Ile)single nucleotide variantLikely pathogenicrs397516045GRCh37Chr 11, 47374196: 47374196
188MYBPC3NM_000256.3(MYBPC3): c.431_432delGT (p.Gly144Alafs)deletionPathogenicrs397516047GRCh37Chr 11, 47371638: 47371639
189MYBPC3NM_000256.3(MYBPC3): c.436dupA (p.Thr146Asnfs)duplicationPathogenicrs397516049GRCh37Chr 11, 47371634: 47371634
190MYBPC3NM_000256.3(MYBPC3): c.459delC (p.Ile154Leufs)deletionPathogenicrs397516052GRCh37Chr 11, 47371611: 47371611
191MYBPC3NM_000256.3(MYBPC3): c.506-1G> Tsingle nucleotide variantPathogenicrs397516056GRCh37Chr 11, 47371474: 47371474
192MYBPC3NM_000256.3(MYBPC3): c.506-2A> Csingle nucleotide variantPathogenicrs397516057GRCh37Chr 11, 47371475: 47371475
193MYBPC3NM_000256.3(MYBPC3): c.540_559del20 (p.Ala181Cysfs)deletionPathogenicrs397516058GRCh37Chr 11, 47371420: 47371439
194MYBPC3NM_000256.3(MYBPC3): c.551dupT (p.Lys185Glufs)duplicationPathogenicrs397516059GRCh37Chr 11, 47371428: 47371428
195MYBPC3NM_000256.3(MYBPC3): c.613C> T (p.Gln205Ter)single nucleotide variantPathogenicrs397516061GRCh37Chr 11, 47371366: 47371366
196MYBPC3NM_000256.3(MYBPC3): c.655-1G> Asingle nucleotide variantPathogenicrs397516067GRCh37Chr 11, 47370093: 47370093
197MYBPC3NM_000256.3(MYBPC3): c.655G> C (p.Val219Leu)single nucleotide variantLikely pathogenic, Pathogenicrs397516068GRCh37Chr 11, 47370092: 47370092
198MYBPC3NM_000256.3(MYBPC3): c.710A> C (p.Tyr237Ser)single nucleotide variantPathogenicrs397516070GRCh37Chr 11, 47370037: 47370037
199MYBPC3NM_000256.3(MYBPC3): c.772+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397516072GRCh37Chr 11, 47369974: 47369974
200MYBPC3NM_000256.3(MYBPC3): c.821+1G> Asingle nucleotide variantPathogenicrs397516073GRCh37Chr 11, 47369407: 47369407
201MYBPC3NM_000256.3(MYBPC3): c.772G> A (p.Glu258Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397516074GRCh37Chr 11, 47369975: 47369975
202MYBPC3NM_000256.3(MYBPC3): c.821+2T> Csingle nucleotide variantPathogenicrs397516076GRCh37Chr 11, 47369406: 47369406
203MYBPC3NM_000256.3(MYBPC3): c.821+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397516077GRCh37Chr 11, 47369403: 47369403
204MYBPC3NM_000256.3(MYBPC3): c.913_914delTT (p.Phe305Profs)deletionLikely pathogenic, Pathogenicrs397516080GRCh37Chr 11, 47368190: 47368191
205MYBPC3NM_000256.3(MYBPC3): c.927-10C> Asingle nucleotide variantLikely pathogenicrs201078659GRCh37Chr 11, 47367931: 47367931
206MYBPC3NM_000256.3(MYBPC3): c.927-2A> Gsingle nucleotide variantPathogenicrs397516082GRCh37Chr 11, 47367923: 47367923
207MYBPC3NM_000256.3(MYBPC3): c.927-9G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397516083GRCh37Chr 11, 47367930: 47367930
208MYBPC3NM_000256.3(MYBPC3): c.984_1054del71 (p.Pro329Glnfs)deletionPathogenicGRCh37Chr 11, 47367794: 47367864
209MYBPC3NM_000256.3(MYBPC3): c.1469G> T (p.Gly490Val)single nucleotide variantPathogenicrs397514752GRCh37Chr 11, 47364284: 47364284
210MYBPC3NM_000256.3(MYBPC3): c.3330+5G> Asingle nucleotide variantPathogenicrs373746463GRCh37Chr 11, 47354740: 47354740
211MYBPC3NM_000256.3(MYBPC3)duplicationLikely pathogenic, Pathogenicrs193922384GRCh38Chr 11, 47332127: 47332144
212MYBPC3NM_000256.3(MYBPC3): c.3373G> A (p.Val1125Met)single nucleotide variantPathogenicrs121909378GRCh37Chr 11, 47354482: 47354482
213MYBPC3NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln)single nucleotide variantLikely pathogenic, Pathogenicrs121909374GRCh37Chr 11, 47364129: 47364129
214MYBPC3MYBPC3, IVS23, G-A, +1single nucleotide variantPathogenic
215MYBPC3MYBPC3, BRANCH POINT, IVS23, A-G, TGAT-TGGTsingle nucleotide variantPathogenic
216MYBPC3MYBPC3, 5-BP DEL, EX25deletionPathogenic
217MYBPC3MYBPC3, 12-BP DUP/4-BP DEL, EX33duplicationPathogenic
218MYBPC3MYBPC3, 1-BP INS, 2405GinsertionPathogenic
219MYBPC3NM_000256.3(MYBPC3): c.175A> G (p.Thr59Ala)single nucleotide variantPathogenicrs121909375GRCh37Chr 11, 47372907: 47372907
220MYBPC3NM_000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121909377GRCh37Chr 11, 47354789: 47354789
221MYBPC3NM_000256.3(MYBPC3): c.2459G> A (p.Arg820Gln)single nucleotide variantLikely pathogenic, Pathogenicrs2856655GRCh37Chr 11, 47359085: 47359085
222MYBPC3NM_000256.3(MYBPC3): c.906-1G> Csingle nucleotide variantPathogenicrs587776700GRCh38Chr 11, 47347030: 47347030
223MYBPC3NM_000256.3(MYBPC3): c.3330+2T> Gsingle nucleotide variantPathogenicrs387906397GRCh37Chr 11, 47354743: 47354743
224MYBPC3NM_000256.3(MYBPC3): c.1641_1642delGT (p.Tyr548Profs)deletionLikely pathogenic, Pathogenicrs398123279GRCh37Chr 11, 47363690: 47363691

Expression for genes affiliated with Cardiomyopathy, Hypertrophic, 4

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Search GEO for disease gene expression data for Cardiomyopathy, Hypertrophic, 4.

Pathways for genes affiliated with Cardiomyopathy, Hypertrophic, 4

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GO Terms for genes affiliated with Cardiomyopathy, Hypertrophic, 4

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Sources for Cardiomyopathy, Hypertrophic, 4

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet