MCID: CRD086
MIFTS: 54

Cardiomyopathy, Familial Hypertrophic, 1 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Summaries for Cardiomyopathy, Familial Hypertrophic, 1

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OMIM:47 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, 1, also known as cardiomyopathy, hypertrophic, midventricular, digenic, is related to hypertrophic cardiomyopathy and dilated cardiomyopathy, and has symptoms including autosomal dominant inheritance, congestive heart failure and asymmetric septal hypertrophy. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 1 is CAV3 (caveolin 3), and among its related pathways are tRNA Aminoacylation and Cardiomyocyte Differentiation through BMP Receptors. The compounds (r)-(+)-blebbistatin and phenylephrine have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotypes are cardiovascular system and muscle.

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 1

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Cardiomyopathy, Familial Hypertrophic, 1, Aliases & Descriptions:

Name: Cardiomyopathy, Familial Hypertrophic, 1 47 11 24
Cardiomyopathy, Hypertrophic, Midventricular, Digenic 47 22 24
 
Cardiomyopathy, Familial Hypertrophic 47


Classifications:

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


External Ids:

OMIM47 192600

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 1

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Diseases in the Hypertrophic Cardiomyopathy family:

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

Diseases related to Cardiomyopathy, Familial Hypertrophic, 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1hypertrophic cardiomyopathy31.3MYH7, MYBPC3
2dilated cardiomyopathy30.0ACTN2, MYH7, TNNT2, TNNI3, TPM1, MYBPC3
3cardiomyopathy, familial hypertrophic 610.5
4cardiomyopathy, familial hypertrophic 1710.5
5cardiomyopathy, familial hypertrophic, 2010.4
6cardiomyopathy, familial hypertrophic, 210.4
7cardiomyopathy, familial hypertrophic, 910.4
8cardiomyopathy, familial hypertrophic, 1310.4
9cardiomyopathy, familial hypertrophic, 810.4
10cardiomyopathy, familial hypertrophic, 1610.4
11cardiomyopathy, familial hypertrophic, 1810.4
12cardiomyopathy, familial hypertrophic, 1510.4
13cardiomyopathy, familial hypertrophic, 1210.4
14cardiomyopathy, familial hypertrophic, 410.4
15cardiomyopathy, familial hypertrophic, 1010.4
16cardiomyopathy, familial hypertrophic, 1410.4
17cardiomyopathy, familial hypertrophic, 1110.4
18cardiomyopathy, familial hypertrophic, 310.4
19cardiomyopathy, familial hypertrophic, 1910.4
20cardiomyopathy, familial hypertrophic, 710.4
21cardiomyopathy, familial hypertrophic, 2110.4
22cardiomyopathy, dilated, 1kk10.1
23caveolinopathies10.1CAV3
24wolff-parkinson-white syndrome10.0PRKAG2
25distal muscular dystrophy10.0MYH7, CAV3
26familial restrictive cardiomyopathy10.0MYH7, TNNI3
27muscular dystrophy, limb-girdle, type 1a10.0TCAP, CAV3
28endocardial fibroelastosis10.0ACTN2
29muscular dystrophy, limb-girdle, type 2b10.0CAV3, TCAP
30calpainopathy10.0CAV3, TCAP
31restrictive cardiomyopathy10.0TNNT2, TNNI3
32limb-girdle muscular dystrophy10.0TCAP, CAV3
33long qt syndrome10.0CAV3, MYH7
34intermediate coronary syndrome10.0TNNT2, TNNI3
35congestive heart failure10.0TNNT2, TNNI3
36primary hyperoxaluria10.0TNNT2, TNNI3
37acute myocardial infarction10.0MYH7, TNNI3, TNNT2
38myocarditis10.0TNNT2, TNNI3
39neuromuscular disease10.0ACTN2, TCAP, CAV3
40muscular dystrophy10.0CAV3, ACTN2, TCAP
41congenital heart disease10.0MYH7, MYBPC3, TNNI3, TNNT2
42duchenne muscular dystrophy10.0CAV3, TCAP, TNNI3, TNNT2
43sudden cardiac death multi-gene panels9.9MYH7, MYBPC3, TPM1, TNNI3, TNNT2, PRKAG2
44myopathy9.9TCAP, CAV3, MYH7, TPM1, TNNI3, TNNT2
45noonan syndrome 19.9CAV3, PRKAG2, TNNT2, TNNI3, MYBPC3, MYH7

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 1:



Diseases related to cardiomyopathy, familial hypertrophic, 1

Symptoms for Cardiomyopathy, Familial Hypertrophic, 1

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Symptoms by clinical synopsis from OMIM:

192600

Clinical features from OMIM:

192600

HPO human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 1:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 congestive heart failure HP:0001635
3 asymmetric septal hypertrophy HP:0001670
4 subaortic stenosis HP:0001682
5 abnormality of metabolism/homeostasis HP:0001939
6 arrhythmia HP:0011675

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 1

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Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Familial Hypertrophic, 1

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 1

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 1

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Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 1:

id Genetic test Affiliating Genes
1 Hypertrophic Cardiomyopathy, Midventricular, Digenic22 MYLK2
2 Familial Hypertrophic Cardiomyopathy 124
3 Cardiomyopathy, Hypertrophic, Midventricular, Digenic24

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 1

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MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 1:

33
Heart

Animal Models for Cardiomyopathy, Familial Hypertrophic, 1 or affiliated genes

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MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.3TNNT2, TNNI3, TPM1, MYBPC3, MYL2, TCAP
2MP:00053697.2TNNT2, TNNI3, MYBPC3, MYLK2, MYL2, TCAP

Publications for Cardiomyopathy, Familial Hypertrophic, 1

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Variations for Cardiomyopathy, Familial Hypertrophic, 1

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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 1:

64 (show all 176)
id Symbol AA change Variation ID SNP ID
1ACTN2p.Ala119ThrVAR_071970
2ACTN2p.Thr495MetVAR_071971
3ACTN2p.Glu583AlaVAR_071972
4ACTN2p.Glu628GlyVAR_071973
5CAV3p.Thr64SerVAR_029543
6MYH7p.Ala26ValVAR_004566rs186964570
7MYH7p.Val59IleVAR_004567
8MYH7p.Arg143GlnVAR_004568
9MYH7p.Arg249GlnVAR_004569rs3218713
10MYH7p.Gly256GluVAR_004570
11MYH7p.Ile263ThrVAR_004571
12MYH7p.Met349ThrVAR_004572
13MYH7p.Arg403LeuVAR_004573
14MYH7p.Arg403GlnVAR_004574
15MYH7p.Arg403TrpVAR_004575rs3218714
16MYH7p.Arg453CysVAR_004576
17MYH7p.Phe513CysVAR_004577
18MYH7p.Gly584ArgVAR_004578
19MYH7p.Asp587ValVAR_004579
20MYH7p.Asn602SerVAR_004580
21MYH7p.Val606MetVAR_004581
22MYH7p.Lys615AsnVAR_004582
23MYH7p.Gly716ArgVAR_004583
24MYH7p.Arg719TrpVAR_004584
25MYH7p.Arg723CysVAR_004585
26MYH7p.Pro731LeuVAR_004586
27MYH7p.Ile736MetVAR_004587
28MYH7p.Gly741ArgVAR_004588
29MYH7p.Gly741TrpVAR_004589
30MYH7p.Asp778GlyVAR_004590
31MYH7p.Ala797ThrVAR_004591rs3218716
32MYH7p.Arg870HisVAR_004592rs36211715
33MYH7p.Leu908ValVAR_004593
34MYH7p.Glu924LysVAR_004594
35MYH7p.Glu930LysVAR_004595
36MYH7p.Glu935LysVAR_004597
37MYH7p.Glu949LysVAR_004598
38MYH7p.Glu743AspVAR_014199
39MYH7p.Arg719GlnVAR_017749
40MYH7p.Ala728ValVAR_017750
41MYH7p.Val39MetVAR_019845
42MYH7p.Thr188AsnVAR_019846
43MYH7p.Arg204HisVAR_019847
44MYH7p.Asn232SerVAR_019848
45MYH7p.Ala355ThrVAR_019849
46MYH7p.Ala428ValVAR_019850
47MYH7p.Ile443ThrVAR_019851
48MYH7p.Asn479SerVAR_019852
49MYH7p.Glu483LysVAR_019853
50MYH7p.Met659IleVAR_019854
51MYH7p.Arg663HisVAR_019855
52MYH7p.Arg663SerVAR_019856
53MYH7p.Arg671CysVAR_019857
54MYH7p.Gly733GluVAR_019858
55MYH7p.Gly768ArgVAR_019859
56MYH7p.Asp778GluVAR_019860
57MYH7p.Arg787HisVAR_019861
58MYH7p.Met852ThrVAR_019862
59MYH7p.Arg869GlyVAR_019863
60MYH7p.Leu1135ArgVAR_019865
61MYH7p.Glu1218GlnVAR_019866
62MYH7p.Thr1377MetVAR_019867
63MYH7p.Ala1379ThrVAR_019868
64MYH7p.Arg1382TrpVAR_019869
65MYH7p.Ala1777ThrVAR_019871
66MYH7p.Thr124IleVAR_020797
67MYH7p.Tyr162CysVAR_020798
68MYH7p.Asn187LysVAR_020799
69MYH7p.Arg190ThrVAR_020800
70MYH7p.Gln222LysVAR_020801
71MYH7p.Phe244LeuVAR_020802
72MYH7p.Val320MetVAR_020803
73MYH7p.Leu390ValVAR_020804
74MYH7p.Val406MetVAR_020805
75MYH7p.Glu499LysVAR_020806rs3218715
76MYH7p.Gln595ArgVAR_020807
77MYH7p.Leu601ValVAR_020808
78MYH7p.Arg694CysVAR_020809
79MYH7p.Asn696SerVAR_020810
80MYH7p.Arg712LeuVAR_020811
81MYH7p.Arg723GlyVAR_020812
82MYH7p.Ser782AsnVAR_020813
83MYH7p.Glu846GlnVAR_020814
84MYH7p.Arg869CysVAR_020815
85MYH7p.Arg870CysVAR_020816rs36211715
86MYH7p.Met877LysVAR_020817
87MYH7p.Glu1555LysVAR_020820
88MYH7p.Ser1776GlyVAR_020821
89MYH7p.Arg143TrpVAR_029431
90MYH7p.Val411IleVAR_029432
91MYH7p.Ala430GluVAR_029433
92MYH7p.Leu517MetVAR_029435
93MYH7p.Gly584SerVAR_029436
94MYH7p.Arg694HisVAR_029437
95MYH7p.Gln734GluVAR_029438
96MYH7p.Ile736ThrVAR_029439
97MYH7p.Leu796PheVAR_029440
98MYH7p.Val824IleVAR_029441
99MYH7p.Cys905PheVAR_029442
100MYH7p.Glu924GlnVAR_029443
101MYH7p.Asp928AsnVAR_029444
102MYH7p.Met515ValVAR_039562
103MYH7p.Arg858CysVAR_039563
104MYH7p.Tyr115HisVAR_042762
105MYH7p.Arg143GlyVAR_042763
106MYH7p.Lys146AsnVAR_042764
107MYH7p.Ser148IleVAR_042765
108MYH7p.Val186LeuVAR_042766
109MYH7p.Ala196ThrVAR_042767
110MYH7p.Lys207GlnVAR_042769
111MYH7p.Pro211LeuVAR_042770
112MYH7p.Leu227ValVAR_042771
113MYH7p.Ile263MetVAR_042772
114MYH7p.Phe312CysVAR_042773
115MYH7p.Glu328GlyVAR_042774
116MYH7p.Lys351GluVAR_042775
117MYH7p.Lys383AsnVAR_042776
118MYH7p.Ala385ValVAR_042777
119MYH7p.Val404LeuVAR_042778
120MYH7p.Val404MetVAR_042779
121MYH7p.Gly407ValVAR_042780
122MYH7p.Gly425ArgVAR_042782
123MYH7p.Met435ThrVAR_042783
124MYH7p.Val440MetVAR_042784
125MYH7p.Lys450GluVAR_042786
126MYH7p.Lys450ThrVAR_042787
127MYH7p.Arg453HisVAR_042788
128MYH7p.Glu500AlaVAR_042789
129MYH7p.Tyr501CysVAR_042790
130MYH7p.Ile511PheVAR_042791
131MYH7p.Ile511ThrVAR_042792
132MYH7p.Met515ArgVAR_042793
133MYH7p.Gly571ArgVAR_042795
134MYH7p.His576ArgVAR_042796
135MYH7p.Lys615GlnVAR_042797
136MYH7p.Arg663CysVAR_042798
137MYH7p.Val698AlaVAR_042799
138MYH7p.Gln734ProVAR_042800
139MYH7p.Ala742GluVAR_042801
140MYH7p.Val763GlyVAR_042802
141MYH7p.Glu774ValVAR_042803
142MYH7p.Asp778ValVAR_042804
143MYH7p.Met822LeuVAR_042805
144MYH7p.Met822ThrVAR_042806
145MYH7p.Gly823GluVAR_042807
146MYH7p.Arg858HisVAR_042809rs2856897
147MYH7p.Arg869HisVAR_042810rs202141173
148MYH7p.Gln882GluVAR_042811
149MYH7p.Glu894GlyVAR_042812
150MYH7p.Ala901GlyVAR_042813
151MYH7p.Asp906GlyVAR_042814
152MYH7p.Glu921LysVAR_042815
153MYH7p.Glu927LysVAR_042816
154MYH7p.Glu931LysVAR_042817
155MYH7p.Asp953HisVAR_042818
156MYH7p.Gly1057AspVAR_042820
157MYH7p.Gly1057SerVAR_042821
158MYH7p.Asn1327LysVAR_042823
159MYH7p.Glu1356LysVAR_042824
160MYH7p.Arg1420TrpVAR_042825
161MYH7p.Ala1454ThrVAR_042827
162MYH7p.Lys1459AsnVAR_042828
163MYH7p.Thr1513SerVAR_042830
164MYH7p.Arg1712TrpVAR_042834
165MYH7p.Glu1753LysVAR_042836
166MYH7p.Glu1768LysVAR_042837
167MYH7p.Thr1854MetVAR_042838
168MYH7p.Glu1883LysVAR_042839
169MYH7p.Thr1929MetVAR_042842
170MYH7p.Val763MetVAR_045926
171MYH7p.Arg787CysVAR_045927
172MYH7p.Leu1414MetVAR_045928
173MYLK2p.Ala87ValVAR_014197rs121908107
174MYLK2p.Ala95GluVAR_014198rs121908108
175TCAPp.Thr137IleVAR_029447
176TCAPp.Arg153HisVAR_029448

Clinvar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 1:

7 (show all 252)
id Gene Variation Type Significance SNP ID Assembly Location
1TNNT2NM_000364.3(TNNT2): c.266T> A (p.Ile89Asn)single nucleotide variantPathogenicrs121964855GRCh37Chr 1, 201334766: 201334766
2TNNT2NM_000364.3(TNNT2): c.305G> A (p.Arg102Gln)single nucleotide variantPathogenicrs121964856GRCh37Chr 1, 201334425: 201334425
3TNNI3NM_000363.4(TNNI3): c.433C> G (p.Arg145Gly)single nucleotide variantPathogenicrs104894724GRCh37Chr 19, 55665514: 55665514
4TNNI3NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp)single nucleotide variantPathogenicrs104894724GRCh37Chr 19, 55665514: 55665514
5TPM1NM_001018005.1(TPM1): c.523G> A (p.Asp175Asn)single nucleotide variantPathogenicrs104894503GRCh37Chr 15, 63353098: 63353098
6MYL2NM_000432.3(MYL2): c.173G> A (p.Arg58Gln)single nucleotide variantPathogenicrs104894369GRCh37Chr 12, 111352091: 111352091
7MYH7NM_000257.3(MYH7): c.1208G> A (p.Arg403Gln)single nucleotide variantPathogenicrs121913624GRCh37Chr 14, 23898487: 23898487
8MYH7NM_000257.3(MYH7): c.746G> A (p.Arg249Gln)single nucleotide variantPathogenicrs3218713GRCh37Chr 14, 23900677: 23900677
9MYH7NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys)single nucleotide variantPathogenicrs121913625GRCh37Chr 14, 23898214: 23898214
10MYH7NM_000257.3(MYH7): c.1750G> C (p.Gly584Arg)single nucleotide variantLikely pathogenic, Pathogenicrs121913626GRCh37Chr 14, 23896932: 23896932
11MYH7NM_000257.3(MYH7): c.1816G> A (p.Val606Met)single nucleotide variantPathogenicrs121913627GRCh37Chr 14, 23896866: 23896866
12MYH7NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys)single nucleotide variantPathogenicrs121913628GRCh37Chr 14, 23893268: 23893268
13MYH7NM_000257.3(MYH7): c.2845G> A (p.Glu949Lys)single nucleotide variantPathogenicrs121913629GRCh37Chr 14, 23893193: 23893193
14MYH7NM_000257.3(MYH7): c.1046T> C (p.Met349Thr)single nucleotide variantPathogenicrs121913640GRCh37Chr 14, 23899076: 23899076
15MYH7NM_000257.3(MYH7): c.2167C> T (p.Arg723Cys)single nucleotide variantPathogenicrs121913630GRCh37Chr 14, 23895023: 23895023
16MYH7nsv513807deletionPathogenic
17MYH7NM_000257.3(MYH7): c.2722C> G (p.Leu908Val)single nucleotide variantPathogenicrs121913631GRCh37Chr 14, 23893316: 23893316
18MYH7NM_000257.3(MYH7): c.2221G> C (p.Gly741Arg)single nucleotide variantPathogenicrs121913632GRCh37Chr 14, 23894969: 23894969
19MYH7NM_000257.3(MYH7): c.767G> A (p.Gly256Glu)single nucleotide variantPathogenicrs121913633GRCh37Chr 14, 23900656: 23900656
20MYH7NM_000257.3(MYH7): c.2333A> G (p.Asp778Gly)single nucleotide variantPathogenicrs121913634GRCh37Chr 14, 23894581: 23894581
21MYH7NM_000257.3(MYH7): c.1208G> T (p.Arg403Leu)single nucleotide variantPathogenicrs121913624GRCh37Chr 14, 23898487: 23898487
22MYH7NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp)single nucleotide variantPathogenicrs3218714GRCh37Chr 14, 23898488: 23898488
23MYH7NM_000257.3(MYH7): c.1538T> G (p.Phe513Cys)single nucleotide variantPathogenicrs121913636GRCh37Chr 14, 23897749: 23897749
24MYH7NM_000257.3(MYH7): c.2155C> T (p.Arg719Trp)single nucleotide variantPathogenicrs121913637GRCh37Chr 14, 23895180: 23895180
25MYH7NM_000257.3(MYH7): c.2146G> A (p.Gly716Arg)single nucleotide variantPathogenicrs121913638GRCh37Chr 14, 23895189: 23895189
26MYH7NM_000257.3(MYH7): c.2803G> A (p.Glu935Lys)single nucleotide variantPathogenicrs121913639GRCh37Chr 14, 23893235: 23893235
27MYH7NM_000257.3(MYH7): c.2156G> A (p.Arg719Gln)single nucleotide variantPathogenicrs121913641GRCh37Chr 14, 23895179: 23895179
28MYH7NM_000257.3(MYH7): c.2183C> T (p.Ala728Val)single nucleotide variantPathogenicrs121913644GRCh37Chr 14, 23895007: 23895007
29MYH7NM_000257.3(MYH7): c.5134C> T (p.Arg1712Trp)single nucleotide variantPathogenicrs121913650GRCh37Chr 14, 23884861: 23884861
30MYH7NM_000257.3(MYH7): c.1447G> A (p.Glu483Lys)single nucleotide variantPathogenicrs121913651GRCh37Chr 14, 23897840: 23897840
31MYH7NM_000257.3(MYH7): c.2609G> A (p.Arg870His)single nucleotide variantPathogenicrs36211715GRCh37Chr 14, 23894048: 23894048
32MYH7NM_000257.3(MYH7): c.5647G> A (p.Glu1883Lys)single nucleotide variantPathogenicrs121913652GRCh37Chr 14, 23883224: 23883224
33MYH7NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro)single nucleotide variantPathogenicrs121913654GRCh37Chr 14, 23884385: 23884385
34MYH7NM_000257.3(MYH7): c.1491G> T (p.Glu497Asp)single nucleotide variantLikely pathogenic, Pathogenicrs267606911GRCh37Chr 14, 23897796: 23897796
35MYH7NM_000257.3(MYH7): c.2717A> G (p.Asp906Gly)single nucleotide variantPathogenicrs267606908GRCh37Chr 14, 23893321: 23893321
36MYH7NM_000257.3(MYH7): c.728G> A (p.Arg243His)single nucleotide variantPathogenicrs267606910GRCh37Chr 14, 23900798: 23900798
37MYH7NM_000257.3(MYH7): c.1357C> A (p.Arg453Ser)single nucleotide variantPathogenicrs121913625GRCh37Chr 14, 23898214: 23898214
38NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys)single nucleotide variantPathogenicrs193922680GRCh37Chr 15, 35085599: 35085599
39MYL3NM_000258.2(MYL3): c.281G> A (p.Arg94His)single nucleotide variantLikely pathogenicrs199474703GRCh37Chr 3, 46902192: 46902192
40TPM1NM_001018005.1(TPM1): c.574G> A (p.Glu192Lys)single nucleotide variantLikely pathogenic, Pathogenicrs199476315GRCh37Chr 15, 63353922: 63353922
41NM_005159.4(ACTC1): c.67T> C (p.Phe23Leu)single nucleotide variantLikely pathogenicrs193922681GRCh37Chr 15, 35086943: 35086943
42LAMP2NM_001122606.1(LAMP2): c.463delA (p.Ser155Valfs)deletionLikely pathogenicrs193922649GRCh37Chr X, 119582918: 119582918
43MYBPC3NM_000256.3(MYBPC3): c.1321G> A (p.Glu441Lys)single nucleotide variantLikely pathogenicrs193922377GRCh37Chr 11, 47364602: 47364602
44MYBPC3NM_000256.3(MYBPC3): c.2308G> A (p.Asp770Asn)single nucleotide variantLikely pathogenicrs36211723GRCh37Chr 11, 47360071: 47360071
45MYBPC3NM_000256.3(MYBPC3): c.2374T> C (p.Trp792Arg)single nucleotide variantLikely pathogenicrs187830361GRCh37Chr 11, 47359280: 47359280
46MYBPC3NM_000256.3(MYBPC3): c.2537T> A (p.Val846Asp)single nucleotide variantLikely pathogenicrs193922379GRCh37Chr 11, 47359007: 47359007
47MYBPC3NM_000256.3(MYBPC3): c.2870C> G (p.Thr957Ser)single nucleotide variantLikely pathogenicrs193922380GRCh37Chr 11, 47356628: 47356628
48MYBPC3NM_000256.3(MYBPC3): c.2914C> T (p.Arg972Trp)single nucleotide variantLikely pathogenicrs193922382GRCh37Chr 11, 47355553: 47355553
49MYBPC3NM_000256.3(MYBPC3): c.3408C> A (p.Tyr1136Ter)single nucleotide variantLikely pathogenic, Pathogenicrs193922383GRCh37Chr 11, 47354447: 47354447
50MYBPC3NM_000256.3(MYBPC3): c.529C> T (p.Arg177Cys)single nucleotide variantLikely pathogenicrs193922385GRCh37Chr 11, 47371450: 47371450
51MYBPC3NM_000256.3(MYBPC3): c.932C> A (p.Ser311Ter)single nucleotide variantLikely pathogenicrs193922386GRCh37Chr 11, 47367916: 47367916
52MYH7NM_000257.3(MYH7): c.2652_2654delGAA (p.Lys884del)deletionLikely pathogenicrs193922387GRCh37Chr 14, 23894003: 23894005
53MYH7NM_000257.3(MYH7): c.3337G> A (p.Ala1113Thr)single nucleotide variantLikely pathogenicrs193922388GRCh37Chr 14, 23889443: 23889443
54MYH7NM_000257.3(MYH7): c.3981C> A (p.Asn1327Lys)single nucleotide variantLikely pathogenicrs141764279GRCh37Chr 14, 23887607: 23887607
55MYH7NM_000257.3(MYH7): c.5135G> A (p.Arg1712Gln)single nucleotide variantLikely pathogenicrs193922390GRCh37Chr 14, 23884860: 23884860
56MYL2NM_000432.3(MYL2): c.359G> A (p.Arg120Gln)single nucleotide variantLikely pathogenicrs192057022GRCh37Chr 12, 111350943: 111350943
57MYL3NM_000258.2(MYL3): c.530A> G (p.Glu177Gly)single nucleotide variantLikely pathogenicrs193922391GRCh37Chr 3, 46899903: 46899903
58TNNI3NM_000363.4(TNNI3): c.562G> A (p.Val188Met)single nucleotide variantLikely pathogenicrs193922409GRCh37Chr 19, 55663273: 55663273
59TPM1NM_001018005.1(TPM1): c.673A> G (p.Ile225Val)single nucleotide variantLikely pathogenicrs193922410GRCh37Chr 15, 63354447: 63354447
60MYBPC3NM_000256.3(MYBPC3): c.2827C> T (p.Arg943Ter)single nucleotide variantPathogenicrs387907267GRCh37Chr 11, 47356671: 47356671
61MYH7NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del)deletionLikely pathogenic, Pathogenicrs367543052GRCh37Chr 14, 23884685: 23884687
62MYBPC3NM_000256.3(MYBPC3): c.1156G> T (p.Glu386Ter)single nucleotide variantPathogenicrs397515888GRCh37Chr 11, 47365110: 47365110
63MYBPC3NM_000256.3(MYBPC3): c.1168delC (p.His390Metfs)deletionPathogenicrs397515889GRCh37Chr 11, 47365098: 47365098
64MYBPC3NM_000256.3(MYBPC3): c.1224-2A> Gsingle nucleotide variantPathogenicrs397515891GRCh37Chr 11, 47364815: 47364815
65MYBPC3NM_000256.3(MYBPC3): c.1227-13G> Asingle nucleotide variantLikely pathogenicrs397515893GRCh37Chr 11, 47364709: 47364709
66MYBPC3NM_000256.3(MYBPC3): c.1235_1236delTT (p.Phe412Terfs)deletionPathogenicrs397515894GRCh37Chr 11, 47364687: 47364688
67MYBPC3NM_000256.3(MYBPC3): c.1273C> T (p.Gln425Ter)single nucleotide variantPathogenicrs397515895GRCh37Chr 11, 47364650: 47364650
68MYBPC3NM_000256.3(MYBPC3): c.1310delT (p.Val437Glyfs)deletionPathogenicrs397515896GRCh37Chr 11, 47364613: 47364613
69MYBPC3NM_000256.3(MYBPC3): c.1351+2T> Csingle nucleotide variantPathogenicrs397515897GRCh37Chr 11, 47364570: 47364570
70MYBPC3NM_000256.3(MYBPC3): c.1456T> G (p.Trp486Gly)single nucleotide variantLikely pathogenicrs397515902GRCh37Chr 11, 47364382: 47364382
71MYBPC3NM_000256.3(MYBPC3): c.1458-1G> Asingle nucleotide variantPathogenicrs397515903GRCh37Chr 11, 47364296: 47364296
72MYBPC3NM_000256.3(MYBPC3): c.1483C> G (p.Arg495Gly)single nucleotide variantLikely pathogenicrs397515905GRCh37Chr 11, 47364270: 47364270
73MYBPC3NM_000256.3(MYBPC3): c.1504C> T (p.Arg502Trp)single nucleotide variantPathogenicrs375882485GRCh37Chr 11, 47364249: 47364249
74MYBPC3NM_000256.3(MYBPC3): c.1505G> A (p.Arg502Gln)single nucleotide variantPathogenicrs397515907GRCh37Chr 11, 47364248: 47364248
75MYBPC3NM_000256.3(MYBPC3): c.1575T> G (p.Tyr525Ter)single nucleotide variantPathogenicrs397515910GRCh37Chr 11, 47364178: 47364178
76MYBPC3NM_000256.3(MYBPC3): c.1624+4A> Tsingle nucleotide variantLikely pathogenicrs397515916GRCh37Chr 11, 47364125: 47364125
77MYBPC3NM_000256.3(MYBPC3): c.1693A> T (p.Lys565Ter)single nucleotide variantPathogenicrs397515920GRCh37Chr 11, 47363639: 47363639
78MYBPC3NM_000256.3(MYBPC3): c.177_187delAGAGGGCACAC (p.Glu60Alafs)deletionPathogenicrs397515925GRCh37Chr 11, 47372895: 47372905
79MYBPC3NM_000256.3(MYBPC3): c.1800delA (p.Lys600Asnfs)deletionPathogenicrs397515926GRCh37Chr 11, 47362786: 47362786
80MYBPC3NM_000256.3(MYBPC3): c.1814_1816delACG (p.Asp605del)deletionLikely pathogenicrs397515930GRCh37Chr 11, 47362770: 47362772
81MYBPC3NM_000256.3(MYBPC3): c.1863delC (p.Phe621Leufs)deletionPathogenicrs397515931GRCh37Chr 11, 47362723: 47362723
82MYBPC3NM_000256.3(MYBPC3): c.1892delT (p.Phe631Serfs)deletionPathogenicrs397515933GRCh37Chr 11, 47362694: 47362694
83MYBPC3NM_000256.3(MYBPC3): c.1895delT (p.Met632Argfs)deletionPathogenicrs397515934GRCh37Chr 11, 47362691: 47362691
84MYBPC3NM_000256.3(MYBPC3): c.1897+1G> Asingle nucleotide variantPathogenicrs397515935GRCh37Chr 11, 47362688: 47362688
85MYBPC3NM_000256.3(MYBPC3): c.1928-2A> Gsingle nucleotide variantPathogenicrs397515937GRCh37Chr 11, 47361343: 47361343
86MYBPC3NM_000256.3(MYBPC3): c.2048G> A (p.Trp683Ter)single nucleotide variantPathogenicrs397515942GRCh37Chr 11, 47361221: 47361221
87MYBPC3NM_000256.3(MYBPC3): c.2013_2016delCCCTinsGG (p.Pro672Aspfs)indelPathogenicrs397515943GRCh37Chr 11, 47361253: 47361256
88MYBPC3NM_000256.3(MYBPC3): c.2040dupT (p.Val681Cysfs)duplicationPathogenicrs397515944GRCh37Chr 11, 47361228: 47361229
89MYBPC3NM_000256.3(MYBPC3): c.2096delC (p.Pro699Glnfs)deletionPathogenicrs397515947GRCh37Chr 11, 47360927: 47360927
90MYBPC3NM_000256.3(MYBPC3): c.2113dupA (p.Thr705Asnfs)duplicationPathogenicrs397515948GRCh37Chr 11, 47360909: 47360910
91MYBPC3NM_000256.3(MYBPC3): c.2163delC (p.Glu722Argfs)deletionPathogenicrs397515952GRCh37Chr 11, 47360216: 47360216
92MYBPC3NM_000256.3(MYBPC3): c.2182G> T (p.Glu728Ter)single nucleotide variantPathogenicrs397515954GRCh37Chr 11, 47360197: 47360197
93MYBPC3NM_000256.3(MYBPC3): c.2308+1G> Asingle nucleotide variantPathogenicrs112738974GRCh37Chr 11, 47360070: 47360070
94MYBPC3NM_000256.3(MYBPC3): c.2308+1G> Tsingle nucleotide variantPathogenicrs112738974GRCh37Chr 11, 47360070: 47360070
95MYBPC3NM_000256.3(MYBPC3): c.2309-2A> Gsingle nucleotide variantPathogenicrs111729952GRCh37Chr 11, 47359347: 47359347
96MYBPC3NM_000256.3(MYBPC3): c.2311dupG (p.Val771Glyfs)duplicationPathogenicrs397515960GRCh37Chr 11, 47359342: 47359343
97MYBPC3NM_000256.3(MYBPC3): c.2373dupG (p.Trp792Valfs)duplicationPathogenicrs397515963GRCh37Chr 11, 47359280: 47359281
98MYBPC3NM_000256.3(MYBPC3): c.2454G> A (p.Trp818Ter)single nucleotide variantPathogenicrs397515965GRCh37Chr 11, 47359090: 47359090
99MYBPC3NM_000256.3(MYBPC3): c.2490dupT (p.His831Serfs)duplicationPathogenicrs397515966GRCh37Chr 11, 47359053: 47359054
100MYBPC3NM_000256.3(MYBPC3): c.2524dupT (p.Tyr842Leufs)duplicationPathogenicrs397515970GRCh37Chr 11, 47359019: 47359020
101MYBPC3NM_000256.3(MYBPC3): c.2528_2536delAGATGCGCG (p.Glu843_Arg845del)deletionLikely pathogenicrs397515972GRCh37Chr 11, 47359008: 47359016
102MYBPC3NM_000256.3(MYBPC3): c.2534_2538delGCGTC (p.Arg845Leufs)deletionPathogenicrs397515973GRCh37Chr 11, 47359006: 47359010
103MYBPC3NM_000256.3(MYBPC3): c.2541C> G (p.Tyr847Ter)single nucleotide variantPathogenicrs397515974GRCh37Chr 11, 47359003: 47359003
104MYBPC3NM_000256.3(MYBPC3): c.2556_2557delCGinsTCT (p.Gly853Leufs)indelPathogenicrs397515975GRCh37Chr 11, 47358987: 47358988
105MYBPC3NM_000256.3(MYBPC3): c.2558delG (p.Gly853Alafs)deletionPathogenicrs397515977GRCh37Chr 11, 47358986: 47358986
106MYBPC3NM_000256.3(MYBPC3): c.26-2A> Gsingle nucleotide variantPathogenicrs376395543GRCh37Chr 11, 47373058: 47373058
107MYBPC3NM_000256.3(MYBPC3): c.2610dupC (p.Ser871Glnfs)duplicationPathogenicrs397515979GRCh37Chr 11, 47357554: 47357555
108MYBPC3NM_000256.3(MYBPC3): c.2670G> A (p.Trp890Ter)single nucleotide variantPathogenicrs397515982GRCh37Chr 11, 47357495: 47357495
109MYBPC3NM_000256.3(MYBPC3): c.2833_2834delCG (p.Arg945Glyfs)deletionPathogenicrs397515987GRCh37Chr 11, 47356664: 47356665
110MYBPC3NM_000256.3(MYBPC3): c.2864_2865delCT (p.Pro955Argfs)deletionPathogenicrs397515990GRCh37Chr 11, 47356633: 47356634
111MYBPC3NM_000256.3(MYBPC3): c.2905+1G> Asingle nucleotide variantPathogenicrs397515991GRCh37Chr 11, 47356592: 47356592
112MYBPC3NM_000256.3(MYBPC3): c.2905+1G> Csingle nucleotide variantPathogenicrs397515991GRCh37Chr 11, 47356592: 47356592
113MYBPC3NM_000256.3(MYBPC3): c.2905C> T (p.Gln969Ter)single nucleotide variantPathogenicrs397515992GRCh37Chr 11, 47356593: 47356593
114MYBPC3NM_000256.3(MYBPC3): c.2943_2947delGACCA (p.Gln981Hisfs)deletionPathogenicrs397515995GRCh37Chr 11, 47355520: 47355524
115MYBPC3NM_000256.3(MYBPC3): c.3040delC (p.Leu1014Trpfs)deletionPathogenicrs397515997GRCh37Chr 11, 47355258: 47355258
116MYBPC3NM_000256.3(MYBPC3): c.3068dupA (p.Asn1023Lysfs)duplicationPathogenicrs397516001GRCh37Chr 11, 47355229: 47355230
117MYBPC3NM_000256.3(MYBPC3): c.3181C> T (p.Gln1061Ter)single nucleotide variantPathogenicrs397516005GRCh37Chr 11, 47355117: 47355117
118MYBPC3NM_000256.3(MYBPC3): c.3190+2T> Gsingle nucleotide variantPathogenicrs113358486GRCh37Chr 11, 47355106: 47355106
119MYBPC3NM_000256.3(MYBPC3): c.3233G> A (p.Trp1078Ter)single nucleotide variantPathogenicrs397516006GRCh37Chr 11, 47354842: 47354842
120MYBPC3NM_000256.3(MYBPC3): c.3192dupC (p.Lys1065Glnfs)duplicationPathogenicrs397516007GRCh37Chr 11, 47354882: 47354883
121MYBPC3NM_000256.3(MYBPC3): c.3226_3227insT (p.Asp1076Valfs)insertionPathogenicrs397516008GRCh37Chr 11, 47354848: 47354849
122MYBPC3NM_000256.3(MYBPC3): c.3253G> T (p.Glu1085Ter)single nucleotide variantPathogenicrs397516010GRCh37Chr 11, 47354822: 47354822
123MYBPC3NM_000256.3(MYBPC3): c.3293G> A (p.Trp1098Ter)single nucleotide variantPathogenicrs397516013GRCh37Chr 11, 47354782: 47354782
124MYBPC3NM_000256.3(MYBPC3): c.3297dupG (p.Tyr1100Valfs)duplicationPathogenicrs397516014GRCh37Chr 11, 47354777: 47354778
125MYBPC3NM_000256.3(MYBPC3): c.3330+5G> Csingle nucleotide variantPathogenicrs373746463GRCh37Chr 11, 47354740: 47354740
126MYBPC3NM_000256.3(MYBPC3): c.3330+5G> Tsingle nucleotide variantLikely pathogenicrs373746463GRCh37Chr 11, 47354740: 47354740
127MYBPC3NM_000256.3(MYBPC3): c.3476_3479dupTTAT (p.Pro1161Tyrfs)duplicationPathogenicrs397516019GRCh37Chr 11, 47354376: 47354379
128MYBPC3NM_000256.3(MYBPC3): c.3490+1G> Asingle nucleotide variantPathogenicrs397516020GRCh37Chr 11, 47354364: 47354364
129MYBPC3NM_000256.3(MYBPC3): c.3491-2A> Tsingle nucleotide variantPathogenicrs397516022GRCh37Chr 11, 47354255: 47354255
130MYBPC3NM_000256.3(MYBPC3): c.350delC (p.Pro117Leufs)deletionPathogenicrs397516023GRCh37Chr 11, 47372109: 47372109
131MYBPC3NM_000256.3(MYBPC3): c.3548T> G (p.Phe1183Cys)single nucleotide variantLikely pathogenicrs397516024GRCh37Chr 11, 47354196: 47354196
132MYBPC3NM_000256.3(MYBPC3): c.3624dupC (p.Lys1209Glnfs)duplicationPathogenicrs397516029GRCh37Chr 11, 47354119: 47354120
133MYBPC3NM_000256.3(MYBPC3): c.3624delC (p.Lys1209Serfs)deletionPathogenicrs397516030GRCh37Chr 11, 47354120: 47354120
134MYBPC3NM_000256.3(MYBPC3): c.3627+1G> Asingle nucleotide variantPathogenicrs397516031GRCh37Chr 11, 47354116: 47354116
135MYBPC3NM_000256.3(MYBPC3): c.362delC (p.Pro121Argfs)deletionPathogenicrs397516032GRCh37Chr 11, 47372097: 47372097
136MYBPC3NM_000256.3(MYBPC3): c.3694A> T (p.Lys1232Ter)single nucleotide variantPathogenicrs397516035GRCh37Chr 11, 47353743: 47353743
137MYBPC3NM_000256.3(MYBPC3): c.3697C> T (p.Gln1233Ter)single nucleotide variantPathogenicrs397516037GRCh37Chr 11, 47353740: 47353740
138MYBPC3NM_000256.3(MYBPC3): c.3735delC (p.Phe1246Leufs)deletionLikely pathogenicrs397516038GRCh37Chr 11, 47353702: 47353702
139MYBPC3NM_000256.3(MYBPC3): c.3797G> A (p.Cys1266Tyr)single nucleotide variantLikely pathogenicrs397516041GRCh37Chr 11, 47353640: 47353640
140MYBPC3NM_000256.3(MYBPC3): c.3811C> T (p.Arg1271Ter)single nucleotide variantPathogenicrs397516042GRCh37Chr 11, 47353626: 47353626
141MYBPC3NM_000256.3(MYBPC3): c.3815-1G> Asingle nucleotide variantLikely pathogenicrs397516044GRCh37Chr 11, 47353433: 47353433
142MYBPC3NM_000256.3(MYBPC3): c.3G> C (p.Met1Ile)single nucleotide variantLikely pathogenicrs397516045GRCh37Chr 11, 47374196: 47374196
143MYBPC3NM_000256.3(MYBPC3): c.431_432delGT (p.Gly144Alafs)deletionPathogenicrs397516047GRCh37Chr 11, 47371638: 47371639
144MYBPC3NM_000256.3(MYBPC3): c.436dupA (p.Thr146Asnfs)duplicationPathogenicrs397516049GRCh37Chr 11, 47371633: 47371634
145MYBPC3NM_000256.3(MYBPC3): c.459delC (p.Ile154Leufs)deletionPathogenicrs397516052GRCh37Chr 11, 47371611: 47371611
146MYBPC3NM_000256.3(MYBPC3): c.506-1G> Tsingle nucleotide variantPathogenicrs397516056GRCh37Chr 11, 47371474: 47371474
147MYBPC3NM_000256.3(MYBPC3): c.506-2A> Csingle nucleotide variantPathogenicrs397516057GRCh37Chr 11, 47371475: 47371475
148MYBPC3NM_000256.3(MYBPC3): c.540_559del20 (p.Ala181Cysfs)deletionPathogenicrs397516058GRCh37Chr 11, 47371420: 47371439
149MYBPC3NM_000256.3(MYBPC3): c.551dupT (p.Lys185Glufs)duplicationLikely pathogenicrs397516059GRCh37Chr 11, 47371427: 47371428
150MYBPC3NM_000256.3(MYBPC3): c.613C> T (p.Gln205Ter)single nucleotide variantPathogenicrs397516061GRCh37Chr 11, 47371366: 47371366
151MYBPC3NM_000256.3(MYBPC3): c.655-1G> Asingle nucleotide variantPathogenicrs397516067GRCh37Chr 11, 47370093: 47370093
152MYBPC3NM_000256.3(MYBPC3): c.655G> C (p.Val219Leu)single nucleotide variantLikely pathogenicrs397516068GRCh37Chr 11, 47370092: 47370092
153MYBPC3NM_000256.3(MYBPC3): c.710A> C (p.Tyr237Ser)single nucleotide variantLikely pathogenicrs397516070GRCh37Chr 11, 47370037: 47370037
154MYBPC3NM_000256.3(MYBPC3): c.772+1G> Asingle nucleotide variantPathogenicrs397516072GRCh37Chr 11, 47369974: 47369974
155MYBPC3NM_000256.3(MYBPC3): c.821+1G> Asingle nucleotide variantPathogenicrs397516073GRCh37Chr 11, 47369407: 47369407
156MYBPC3NM_000256.3(MYBPC3): c.772G> A (p.Glu258Lys)single nucleotide variantPathogenicrs397516074GRCh37Chr 11, 47369975: 47369975
157MYBPC3NM_000256.3(MYBPC3): c.821+2T> Csingle nucleotide variantPathogenicrs397516076GRCh37Chr 11, 47369406: 47369406
158MYBPC3NM_000256.3(MYBPC3): c.821+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397516077GRCh37Chr 11, 47369403: 47369403
159MYBPC3NM_000256.3(MYBPC3): c.836G> C (p.Gly279Ala)single nucleotide variantLikely pathogenicrs375774648GRCh37Chr 11, 47369217: 47369217
160MYBPC3NM_000256.3(MYBPC3): c.913_914delTT (p.Phe305Profs)deletionPathogenicrs397516080GRCh37Chr 11, 47368190: 47368191
161MYBPC3NM_000256.3(MYBPC3): c.927-10C> Asingle nucleotide variantLikely pathogenicrs201078659GRCh37Chr 11, 47367931: 47367931
162MYBPC3NM_000256.3(MYBPC3): c.927-2A> Gsingle nucleotide variantPathogenicrs397516082GRCh37Chr 11, 47367923: 47367923
163MYBPC3NM_000256.3(MYBPC3): c.927-9G> Asingle nucleotide variantPathogenicrs397516083GRCh37Chr 11, 47367930: 47367930
164MYBPC3NM_000256.3(MYBPC3): c.984_1054del71 (p.Pro329Glnfs)deletionPathogenicGRCh37Chr 11, 47367794: 47367864
165MYH7NM_000257.3(MYH7): c.1273G> A (p.Gly425Arg)single nucleotide variantLikely pathogenicrs397516097GRCh37Chr 14, 23898298: 23898298
166MYH7NM_000257.3(MYH7): c.1318G> A (p.Val440Met)single nucleotide variantLikely pathogenicrs397516098GRCh37Chr 14, 23898253: 23898253
167MYH7NM_000257.3(MYH7): c.1358G> A (p.Arg453His)single nucleotide variantLikely pathogenicrs397516101GRCh37Chr 14, 23898213: 23898213
168MYH7NM_000257.3(MYH7): c.1370T> C (p.Ile457Thr)single nucleotide variantLikely pathogenicrs397516103GRCh37Chr 14, 23898201: 23898201
169MYH7NM_000257.3(MYH7): c.1532T> C (p.Ile511Thr)single nucleotide variantLikely pathogenicrs397516110GRCh37Chr 14, 23897755: 23897755
170MYH7NM_000257.3(MYH7): c.1598T> A (p.Ile533Asn)single nucleotide variantLikely pathogenicrs397516114GRCh37Chr 14, 23897084: 23897084
171MYH7NM_000257.3(MYH7): c.1742A> G (p.His581Arg)single nucleotide variantLikely pathogenicrs397516120GRCh37Chr 14, 23896940: 23896940
172MYH7NM_000257.3(MYH7): c.1750G> A (p.Gly584Ser)single nucleotide variantLikely pathogenicrs121913626GRCh37Chr 14, 23896932: 23896932
173MYH7NM_000257.3(MYH7): c.1757T> C (p.Val586Ala)single nucleotide variantLikely pathogenicrs397516121GRCh37Chr 14, 23896925: 23896925
174MYH7NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys)single nucleotide variantLikely pathogenicrs397516127GRCh37Chr 14, 23896043: 23896043
175MYH7NM_000257.3(MYH7): c.1988G> A (p.Arg663His)single nucleotide variantPathogenicrs371898076GRCh37Chr 14, 23896042: 23896042
176MYH7NM_000257.3(MYH7): c.2069T> C (p.Met690Thr)single nucleotide variantLikely pathogenicrs397516128GRCh37Chr 14, 23895266: 23895266
177MYH7NM_000257.3(MYH7): c.2093T> C (p.Val698Ala)single nucleotide variantLikely pathogenicrs397516130GRCh37Chr 14, 23895242: 23895242
178MYH7NM_000257.3(MYH7): c.2105T> A (p.Ile702Asn)single nucleotide variantLikely pathogenicrs397516132GRCh37Chr 14, 23895230: 23895230
179MYH7NM_000257.3(MYH7): c.2123G> C (p.Gly708Ala)single nucleotide variantLikely pathogenicrs397516134GRCh37Chr 14, 23895212: 23895212
180MYH7NM_000257.3(MYH7): c.2167C> G (p.Arg723Gly)single nucleotide variantPathogenicrs121913630GRCh37Chr 14, 23895023: 23895023
181MYH7NM_000257.3(MYH7): c.2221G> A (p.Gly741Arg)single nucleotide variantPathogenicrs121913632GRCh37Chr 14, 23894969: 23894969
182MYH7NM_000257.3(MYH7): c.2285A> G (p.Lys762Arg)single nucleotide variantLikely pathogenicrs397516140GRCh37Chr 14, 23894905: 23894905
183MYH7NM_000257.3(MYH7): c.2296A> C (p.Lys766Gln)single nucleotide variantLikely pathogenicrs397516141GRCh37Chr 14, 23894618: 23894618
184MYH7NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr)single nucleotide variantPathogenicrs3218716GRCh37Chr 14, 23894525: 23894525
185MYH7NM_000257.3(MYH7): c.2502C> G (p.Phe834Leu)single nucleotide variantLikely pathogenicrs397516152GRCh37Chr 14, 23894155: 23894155
186MYH7NM_000257.3(MYH7): c.2513C> T (p.Pro838Leu)single nucleotide variantLikely pathogenic, Pathogenicrs397516153GRCh37Chr 14, 23894144: 23894144
187MYH7NM_000257.3(MYH7): c.2525G> A (p.Ser842Asn)single nucleotide variantLikely pathogenicrs397516154GRCh37Chr 14, 23894132: 23894132
188MYH7NM_000257.3(MYH7): c.2623_2625delGAG (p.Glu875del)deletionLikely pathogenicrs397516159GRCh37Chr 14, 23894032: 23894034
189MYH7NM_000257.3(MYH7): c.2681A> G (p.Glu894Gly)single nucleotide variantLikely pathogenicrs397516161GRCh37Chr 14, 23893357: 23893357
190MYH7NM_000257.3(MYH7): c.2744T> C (p.Leu915Pro)single nucleotide variantPathogenicrs397516166GRCh37Chr 14, 23893294: 23893294
191MYH7NM_000257.3(MYH7): c.2788G> A (p.Glu930Lys)single nucleotide variantPathogenicrs397516171GRCh37Chr 14, 23893250: 23893250
192MYH7NM_000257.3(MYH7): c.2791_2793delGAG (p.Glu931del)deletionPathogenicrs397516172GRCh37Chr 14, 23893245: 23893247
193MYH7NM_000257.3(MYH7): c.3134G> T (p.Arg1045Leu)single nucleotide variantLikely pathogenicrs397516178GRCh37Chr 14, 23891500: 23891500
194MYH7NM_000257.3(MYH7): c.343T> C (p.Tyr115His)single nucleotide variantLikely pathogenicrs397516183GRCh37Chr 14, 23902295: 23902295
195MYH7NM_000257.3(MYH7): c.4135G> A (p.Ala1379Thr)single nucleotide variantPathogenicrs397516202GRCh37Chr 14, 23887453: 23887453
196MYH7NM_000257.3(MYH7): c.438G> T (p.Lys146Asn)single nucleotide variantPathogenicrs397516212GRCh37Chr 14, 23901912: 23901912
197MYH7NM_000257.3(MYH7): c.4954G> T (p.Asp1652Tyr)single nucleotide variantLikely pathogenicrs397516233GRCh37Chr 14, 23885041: 23885041
198MYH7NM_000257.3(MYH7): c.49C> T (p.Arg17Cys)single nucleotide variantLikely pathogenicrs45511396GRCh37Chr 14, 23902893: 23902893
199MYH7NM_000257.3(MYH7): c.5015_5020delCCATCG (p.Ala1672_Ile1673del)deletionLikely pathogenicrs397516234GRCh37Chr 14, 23884975: 23884980
200MYH7NM_000257.3(MYH7): c.506G> A (p.Arg169Lys)single nucleotide variantLikely pathogenicrs397516237GRCh37Chr 14, 23901712: 23901712
201MYH7NM_000257.3(MYH7): c.507A> T (p.Arg169Ser)single nucleotide variantLikely pathogenicrs397516238GRCh37Chr 14, 23901711: 23901711
202MYH7NM_000257.3(MYH7): c.5302G> A (p.Glu1768Lys)single nucleotide variantLikely pathogenicrs397516241GRCh37Chr 14, 23884461: 23884461
203MYH7NM_000257.3(MYH7): c.5341C> T (p.Arg1781Cys)single nucleotide variantLikely pathogenicrs397516245GRCh37Chr 14, 23884422: 23884422
204MYH7NM_000257.3(MYH7): c.5342G> A (p.Arg1781His)single nucleotide variantLikely pathogenicrs397516246GRCh37Chr 14, 23884421: 23884421
205MYH7NM_000257.3(MYH7): c.5380C> A (p.Gln1794Lys)single nucleotide variantLikely pathogenicrs397516247GRCh37Chr 14, 23884383: 23884383
206MYH7NM_000257.3(MYH7): c.5588G> A (p.Arg1863Gln)single nucleotide variantLikely pathogenicrs45520836GRCh37Chr 14, 23883283: 23883283
207MYH7NM_000257.3(MYH7): c.560A> G (p.Asn187Ser)single nucleotide variantLikely pathogenicrs397516249GRCh37Chr 14, 23901049: 23901049
208MYH7NM_000257.3(MYH7): c.715G> A (p.Asp239Asn)single nucleotide variantLikely pathogenicrs397516264GRCh37Chr 14, 23900811: 23900811
209MYH7NM_000257.3(MYH7): c.788T> C (p.Ile263Thr)single nucleotide variantLikely pathogenicrs397516269GRCh37Chr 14, 23900635: 23900635
210MYH7NM_000257.3(MYH7): c.872C> T (p.Ser291Phe)single nucleotide variantLikely pathogenicrs397516272GRCh37Chr 14, 23900133: 23900133
211MYH7NM_000257.3(MYH7): c.968T> A (p.Ile323Asn)single nucleotide variantLikely pathogenicrs397516275GRCh37Chr 14, 23899800: 23899800
212TNNI3NM_000363.4(TNNI3): c.12-1G> Tsingle nucleotide variantLikely pathogenicrs397516340GRCh37Chr 19, 55668677: 55668677
213TNNI3NM_000363.4(TNNI3): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenicrs397516341GRCh37Chr 19, 55668957: 55668957
214TNNI3NM_000363.4(TNNI3): c.307C> T (p.Arg103Cys)single nucleotide variantLikely pathogenicrs397516344GRCh37Chr 19, 55666174: 55666174
215TNNI3NM_000363.4(TNNI3): c.422G> A (p.Arg141Gln)single nucleotide variantLikely pathogenicrs397516347GRCh37Chr 19, 55665525: 55665525
216TNNI3NM_000363.4(TNNI3): c.431T> C (p.Leu144Pro)single nucleotide variantLikely pathogenicrs121917760GRCh37Chr 19, 55665516: 55665516
217TNNI3NM_000363.4(TNNI3): c.434G> A (p.Arg145Gln)single nucleotide variantLikely pathogenicrs397516349GRCh37Chr 19, 55665513: 55665513
218TNNI3NM_000363.4(TNNI3): c.532_534delAAG (p.Lys178del)deletionPathogenicrs397516351GRCh37Chr 19, 55665413: 55665415
219TNNI3NM_000363.4(TNNI3): c.470C> T (p.Ala157Val)single nucleotide variantPathogenicrs397516353GRCh37Chr 19, 55665477: 55665477
220TNNI3NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln)single nucleotide variantLikely pathogenicrs397516354GRCh37Chr 19, 55665462: 55665462
221TNNI3NM_000363.4(TNNI3): c.485G> C (p.Arg162Pro)single nucleotide variantLikely pathogenicrs397516354GRCh37Chr 19, 55665462: 55665462
222TNNI3NM_000363.4(TNNI3): c.557G> A (p.Arg186Gln)single nucleotide variantPathogenicrs397516357GRCh37Chr 19, 55663278: 55663278
223TPM1NM_001018005.1(TPM1): c.457C> G (p.His153Asp)single nucleotide variantLikely pathogenicrs397516372GRCh37Chr 15, 63351844: 63351844
224TPM1NM_001018005.1(TPM1): c.790A> G (p.Lys264Glu)single nucleotide variantLikely pathogenicrs397516390GRCh37Chr 15, 63356280: 63356280
225MYL2NM_000432.3(MYL2): c.170G> A (p.Gly57Glu)single nucleotide variantLikely pathogenicrs199474809GRCh37Chr 12, 111352094: 111352094
226MYL2NM_000432.3(MYL2): c.193G> A (p.Glu65Lys)single nucleotide variantLikely pathogenicrs397516398GRCh37Chr 12, 111352071: 111352071
227MYL2NM_000432.3(MYL2): c.260G> C (p.Gly87Ala)single nucleotide variantLikely pathogenicrs397516399GRCh37Chr 12, 111352004: 111352004
228MYL2NM_000432.3(MYL2): c.401A> C (p.Glu134Ala)single nucleotide variantLikely pathogenicrs143139258GRCh37Chr 12, 111350901: 111350901
229MYL2NM_000432.3(MYL2): c.485G> A (p.Gly162Glu)single nucleotide variantLikely pathogenicrs397516406GRCh37Chr 12, 111348897: 111348897
230MYL2NM_000432.3(MYL2): c.488A> C (p.Glu163Ala)single nucleotide variantLikely pathogenicrs397516407GRCh37Chr 12, 111348894: 111348894
231MYL2NM_000432.3(MYL2): c.80A> G (p.Gln27Arg)single nucleotide variantLikely pathogenicrs397516408GRCh37Chr 12, 111356921: 111356921
232TNNT2NM_000364.3(TNNT2): c.287A> C (p.Asp96Ala)single nucleotide variantLikely pathogenicrs397516455GRCh37Chr 1, 201334745: 201334745
233TNNT2NM_000364.3(TNNT2): c.304C> T (p.Arg102Trp)single nucleotide variantPathogenicrs397516456GRCh37Chr 1, 201334426: 201334426
234TNNT2NM_000364.3(TNNT2): c.311G> A (p.Arg104His)single nucleotide variantPathogenicrs397516457GRCh37Chr 1, 201334419: 201334419
235TNNT2NM_000364.3(TNNT2): c.311G> T (p.Arg104Leu)single nucleotide variantLikely pathogenicrs397516457GRCh37Chr 1, 201334419: 201334419
236TNNT2NM_000364.3(TNNT2): c.321G> T (p.Lys107Asn)single nucleotide variantLikely pathogenicrs397516459GRCh37Chr 1, 201334409: 201334409
237TNNT2NM_000364.3(TNNT2): c.418C> T (p.Arg140Cys)single nucleotide variantLikely pathogenicrs397516463GRCh37Chr 1, 201333497: 201333497
238TNNT2NM_000364.3(TNNT2): c.517_519delGAG (p.Glu173del)deletionPathogenicrs397516470GRCh37Chr 1, 201332505: 201332507
239TNNT2NM_000364.3(TNNT2): c.842+1G> Asingle nucleotide variantPathogenicrs111377893GRCh37Chr 1, 201328750: 201328750
240TPM1NM_001018005.1(TPM1): c.609C> G (p.Asn203Lys)single nucleotide variantLikely pathogenicrs397516486GRCh37Chr 15, 63353957: 63353957
241PRKAG2NM_016203.3(PRKAG2): c.1390G> A (p.Asp464Asn)single nucleotide variantLikely pathogenicrs397517264GRCh37Chr 7, 151262815: 151262815
242PRKAG2NM_016203.3(PRKAG2): c.967T> A (p.Phe323Ile)single nucleotide variantLikely pathogenicrs397517283GRCh37Chr 7, 151272015: 151272015
243LMNANM_005572.3(LMNA): c.356G> C (p.Arg119Pro)single nucleotide variantLikely pathogenicrs397517902GRCh37Chr 1, 156085065: 156085065
244PRKAG2NM_016203.3(PRKAG2): c.905G> A (p.Arg302Gln)single nucleotide variantPathogenicrs121908987GRCh37Chr 7, 151273498: 151273498
245PRKAG2NM_016203.3(PRKAG2): c.1199C> A (p.Thr400Asn)single nucleotide variantLikely pathogenic, Pathogenicrs28938173GRCh37Chr 7, 151265836: 151265836
246PRKAG2NM_016203.3(PRKAG2): c.1592G> A (p.Arg531Gln)single nucleotide variantPathogenicrs121908991GRCh37Chr 7, 151257696: 151257696
247MYBPC3NM_000256.3(MYBPC3)duplicationPathogenicrs193922384GRCh38Chr 11, 47332127: 47332144
248MYBPC3NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln)single nucleotide variantPathogenicrs121909374GRCh37Chr 11, 47364129: 47364129
249MYBPC3NM_000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter)single nucleotide variantPathogenicrs121909377GRCh37Chr 11, 47354789: 47354789
250MYBPC3NM_000256.3(MYBPC3): c.3330+2T> Gsingle nucleotide variantPathogenicrs387906397GRCh37Chr 11, 47354743: 47354743
251MT-TIm.4295A> Gsingle nucleotide variantPathogenicrs121434467GRCh37Chr MT, 4295: 4295
252MT-TGm.9997T> Csingle nucleotide variantPathogenicrs121434475GRCh37Chr MT, 9997: 9997

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 1

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Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 1.

Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 1

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Pathways related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9MT-TI, MT-TG
29.8MYH7, MYL2
39.0MYL2, ACTN2, MYH7
4
Show member pathways
9.0ACTN2, MYH7, MYL2
5
Show member pathways
9.0MYLK2, MYL2, ACTN2
69.0TNNT2, MYL2, TNNI3
78.9TNNT2, TNNI3, TPM1
8
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
8.7CAV3, ACTN2, MYL2, MYLK2
9
Show member pathways
8.7MYL2, MYH7, MYLK2, ACTN2
10
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
8.7MYLK2, MYH7, MYL2, ACTN2
11
Show member pathways
8.7MYH7, MYL2, PRKAG2, ACTN2
128.2TNNT2, MYH7, TNNI3, TPM1, MYL2
138.2TNNT2, TNNI3, TPM1, MYL2, MYH7
14
Show member pathways
6.7TNNT2, ACTN2, TCAP, MYL2, MYBPC3, TPM1
15
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
6.7TNNI3, ACTN2, MYL2, MYH7, MYBPC3, TPM1

Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 1

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Compounds related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(r)-(+)-blebbistatin6110.0MYL2, MYH7
2phenylephrine45 30 26 1313.0CAV3, MYH7
3bts619.9MYH7, MYL2
4(s)-(-)-blebbistatin619.9MYH7, MYL2
5(+-)-blebbistatin619.8MYH7, MYL2
6actomyosin459.8MYLK2, MYH7
7creatinine459.0TNNT2, TNNI3, MYH7, CAV3
8glycogen45 2610.0TNNT2, PRKAG2, CAV3
9calcium45 51 26 1310.1CAV3, TNNT2, TNNI3, TPM1, MYLK2, MYH7

GO Terms for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 1

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Cellular components related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin complexGO:00164599.7MYL2, MYH7
2A bandGO:00316729.7MYBPC3, MYL2
3stress fiberGO:00017259.5MYH7, TPM1
4troponin complexGO:00058619.4TNNI3, TNNT2
5cytoskeletonGO:00058568.8ACTN2, MYL2, TPM1
6Z discGO:00300188.8MYH7, TCAP, ACTN2, CAV3
7sarcomereGO:00300177.7MYL2, MYH7, MYLK2, MYBPC3, TPM1, TNNI3
8cytosolGO:00058296.5TNNT2, TNNI3, TPM1, MYBPC3, MYL2, TCAP

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1regulation of muscle filament slidingGO:003297110.1MYLK2, MYBPC3
2regulation of striated muscle contractionGO:00069429.9MYBPC3, MYL2
3regulation of heart rateGO:00020279.8MYH7, MYBPC3, CAV3
4striated muscle contractionGO:00069419.8MYLK2, MYH7
5cardiac muscle tissue morphogenesisGO:00550089.8MYLK2, TCAP
6heart contractionGO:00600479.8TNNI3, MYL2
7cardiac myofibril assemblyGO:00550039.7MYL2, TCAP
8adult heart developmentGO:00075129.7MYH7, TCAP
9negative regulation of potassium ion transmembrane transporter activityGO:019010179.7CAV3, ACTN2
10negative regulation of protein localization to cell surfaceGO:020000099.6CAV3, ACTN2
11negative regulation of protein kinase activityGO:00064699.6PRKAG2, CAV3
12negative regulation of ATPase activityGO:00327809.6TNNI3, TNNT2
13regulation of muscle contractionGO:00069379.5TNNT2, TPM1
14regulation of heart contractionGO:00080169.4CAV3, TNNT2, TPM1
15regulation of membrane potentialGO:00423919.4ACTN2, CAV3
16positive regulation of ATPase activityGO:00327819.3MYBPC3, TPM1, TNNT2
17sarcomere organizationGO:00452148.8TCAP, MYBPC3, TNNT2, TPM1
18cardiac muscle contractionGO:00600488.2TCAP, TPM1, MYBPC3, TNNI3, MYLK2, MYL2
19ventricular cardiac muscle tissue morphogenesisGO:00550108.2TPM1, TNNI3, MYH7, MYL2, TNNT2, MYBPC3
20muscle filament slidingGO:00300496.8TNNT2, TCAP, MYL2, MYH7, MYBPC3, TNNI3

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1myosin heavy chain bindingGO:00320369.6MYBPC3, MYL2
2troponin C bindingGO:00301729.4TNNI3, TNNT2
3titin Z domain bindingGO:00700809.2TCAP, ACTN2
4cytoskeletal protein bindingGO:00080929.2ACTN2, TPM1
5FATZ bindingGO:00513739.1ACTN2, TCAP
6titin bindingGO:00314328.9MYBPC3, TCAP, ACTN2
7ion channel bindingGO:00443258.6CAV3, ACTN2, TCAP
8actin bindingGO:00037798.3MYH7, MYBPC3, TPM1, TNNI3, TNNT2
9structural constituent of muscleGO:00083078.1ACTN2, TCAP, MYL2, MYBPC3, TPM1

Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 1

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Sources for Cardiomyopathy, Familial Hypertrophic, 1

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet