MCID: HYP250
MIFTS: 38

Hypertrophic Cardiomyopathy, Midventricular, Digenic malady

Genetic diseases (common), Cardiovascular diseases categories
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Summaries for Hypertrophic Cardiomyopathy, Midventricular, Digenic

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MalaCards based summary: Hypertrophic Cardiomyopathy, Midventricular, Digenic, also known as cardiomyopathy, hypertrophic, midventricular, digenic, is related to wolff-parkinson-white syndrome and hypertrophic cardiomyopathy. An important gene associated with Hypertrophic Cardiomyopathy, Midventricular, Digenic is MYLK2 (myosin light chain kinase 2), and among its related pathways are Cardiomyocyte Differentiation through BMP Receptors and Oxytocin signaling pathway. The compounds (r)-(+)-blebbistatin and bts have been mentioned in the context of this disorder. Related mouse phenotypes are cardiovascular system and muscle.

Description from OMIM:46 192600

Aliases & Classifications for Hypertrophic Cardiomyopathy, Midventricular, Digenic

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Hypertrophic Cardiomyopathy, Midventricular, Digenic, Aliases & Descriptions:

Name: Hypertrophic Cardiomyopathy, Midventricular, Digenic 20 22
 
Cardiomyopathy, Hypertrophic, Midventricular, Digenic 46


Classifications:

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


Related Diseases for Hypertrophic Cardiomyopathy, Midventricular, Digenic

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



Diseases related to hypertrophic cardiomyopathy, midventricular, digenic

Symptoms for Hypertrophic Cardiomyopathy, Midventricular, Digenic

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Clinical features from OMIM:

192600

Drugs & Therapeutics for Hypertrophic Cardiomyopathy, Midventricular, Digenic

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Drug clinical trials:

Search ClinicalTrials for Hypertrophic Cardiomyopathy, Midventricular, Digenic

Search NIH Clinical Center for Hypertrophic Cardiomyopathy, Midventricular, Digenic

Genetic Tests for Hypertrophic Cardiomyopathy, Midventricular, Digenic

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Genetic tests related to Hypertrophic Cardiomyopathy, Midventricular, Digenic:

id Genetic test Affiliating Genes
1 Hypertrophic Cardiomyopathy, Midventricular, Digenic20 MYLK2
2 Cardiomyopathy, Hypertrophic, Midventricular, Digenic22

Anatomical Context for Hypertrophic Cardiomyopathy, Midventricular, Digenic

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Animal Models for Hypertrophic Cardiomyopathy, Midventricular, Digenic or affiliated genes

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MGI Mouse Phenotypes related to Hypertrophic Cardiomyopathy, Midventricular, Digenic:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053856.8TNNI3, TPM1, MYBPC3, MYL2, TCAP, CAV3
2MP:00053696.4CAV3, TNNT2, TNNI3, MYBPC3, MYLK2, MYL2

Publications for Hypertrophic Cardiomyopathy, Midventricular, Digenic

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Variations for Hypertrophic Cardiomyopathy, Midventricular, Digenic

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

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

Clinvar genetic disease variations for Hypertrophic Cardiomyopathy, Midventricular, Digenic:

6 (show all 248)
id Gene Name Type Significance SNP ID Assembly Location
1TNNT2NM_000364.3(TNNT2): c.266T> A (p.Ile89Asn)single nucleotide variantPathogenicrs121964855GRCh37Chr 1, 201334766: 201334766
2TNNT2NM_000364.3(TNNT2): c.305G> A (p.Arg102Gln)single nucleotide variantPathogenicrs121964856GRCh37Chr 1, 201334425: 201334425
3TNNI3NM_000363.4(TNNI3): c.433C> G (p.Arg145Gly)single nucleotide variantPathogenicrs104894724GRCh37Chr 19, 55665514: 55665514
4TNNI3NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp)single nucleotide variantPathogenicrs104894724GRCh37Chr 19, 55665514: 55665514
5TPM1NM_001018005.1(TPM1): c.523G> A (p.Asp175Asn)single nucleotide variantPathogenicrs104894503GRCh37Chr 15, 63353098: 63353098
6MYL2NM_000432.3(MYL2): c.173G> A (p.Arg58Gln)single nucleotide variantPathogenicrs104894369GRCh37Chr 12, 111352091: 111352091
7MYH7NM_000257.3(MYH7): c.1208G> A (p.Arg403Gln)single nucleotide variantPathogenicrs121913624GRCh37Chr 14, 23898487: 23898487
8MYH7NM_000257.3(MYH7): c.746G> A (p.Arg249Gln)single nucleotide variantPathogenicrs3218713GRCh37Chr 14, 23900677: 23900677
9MYH7NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys)single nucleotide variantPathogenicrs121913625GRCh37Chr 14, 23898214: 23898214
10MYH7NM_000257.3(MYH7): c.1750G> C (p.Gly584Arg)single nucleotide variantLikely 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.1491G> T (p.Glu497Asp)single nucleotide variantLikely pathogenicrs267606911GRCh37Chr 14, 23897796: 23897796
33MYH7NM_000257.3(MYH7): c.2717A> G (p.Asp906Gly)single nucleotide variantPathogenicrs267606908GRCh37Chr 14, 23893321: 23893321
34MYH7NM_000257.3(MYH7): c.1357C> A (p.Arg453Ser)single nucleotide variantPathogenicrs121913625GRCh37Chr 14, 23898214: 23898214
35NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys)single nucleotide variantPathogenicrs193922680GRCh37Chr 15, 35085599: 35085599
36MYL3NM_000258.2(MYL3): c.281G> A (p.Arg94His)single nucleotide variantLikely pathogenicrs199474703GRCh37Chr 3, 46902192: 46902192
37TPM1NM_001018005.1(TPM1): c.574G> A (p.Glu192Lys)single nucleotide variantLikely pathogenicrs199476315GRCh37Chr 15, 63353922: 63353922
38NM_005159.4(ACTC1): c.67T> C (p.Phe23Leu)single nucleotide variantLikely pathogenicrs193922681GRCh37Chr 15, 35086943: 35086943
39LAMP2NM_001122606.1(LAMP2): c.463delA (p.Ser155Valfs)deletionLikely pathogenicrs193922649GRCh37Chr X, 119582918: 119582918
40MYBPC3NM_000256.3(MYBPC3): c.1321G> A (p.Glu441Lys)single nucleotide variantLikely pathogenicrs193922377GRCh37Chr 11, 47364602: 47364602
41MYBPC3NM_000256.3(MYBPC3): c.2308G> A (p.Asp770Asn)single nucleotide variantLikely pathogenicrs36211723GRCh37Chr 11, 47360071: 47360071
42MYBPC3NM_000256.3(MYBPC3): c.2374T> C (p.Trp792Arg)single nucleotide variantLikely pathogenicrs187830361GRCh37Chr 11, 47359280: 47359280
43MYBPC3NM_000256.3(MYBPC3): c.2537T> A (p.Val846Asp)single nucleotide variantLikely pathogenicrs193922379GRCh37Chr 11, 47359007: 47359007
44MYBPC3NM_000256.3(MYBPC3): c.2870C> G (p.Thr957Ser)single nucleotide variantLikely pathogenicrs193922380GRCh37Chr 11, 47356628: 47356628
45MYBPC3NM_000256.3(MYBPC3): c.2914C> T (p.Arg972Trp)single nucleotide variantLikely pathogenicrs193922382GRCh37Chr 11, 47355553: 47355553
46MYBPC3NM_000256.3(MYBPC3): c.3408C> A (p.Tyr1136Ter)single nucleotide variantLikely pathogenicrs193922383GRCh37Chr 11, 47354447: 47354447
47MYBPC3NM_000256.3(MYBPC3): c.529C> T (p.Arg177Cys)single nucleotide variantLikely pathogenicrs193922385GRCh37Chr 11, 47371450: 47371450
48MYBPC3NM_000256.3(MYBPC3): c.932C> A (p.Ser311Ter)single nucleotide variantLikely pathogenicrs193922386GRCh37Chr 11, 47367916: 47367916
49MYH7NM_000257.3(MYH7): c.2652_2654delGAA (p.Lys884del)deletionLikely pathogenicrs193922387GRCh37Chr 14, 23894003: 23894005
50MYH7NM_000257.3(MYH7): c.3337G> A (p.Ala1113Thr)single nucleotide variantLikely pathogenicrs193922388GRCh37Chr 14, 23889443: 23889443
51MYH7NM_000257.3(MYH7): c.3981C> A (p.Asn1327Lys)single nucleotide variantLikely pathogenicrs141764279GRCh37Chr 14, 23887607: 23887607
52MYH7NM_000257.3(MYH7): c.5135G> A (p.Arg1712Gln)single nucleotide variantLikely pathogenicrs193922390GRCh37Chr 14, 23884860: 23884860
53MYL2NM_000432.3(MYL2): c.359G> A (p.Arg120Gln)single nucleotide variantLikely pathogenicrs192057022GRCh37Chr 12, 111350943: 111350943
54MYL3NM_000258.2(MYL3): c.530A> G (p.Glu177Gly)single nucleotide variantLikely pathogenicrs193922391GRCh37Chr 3, 46899903: 46899903
55TNNI3NM_000363.4(TNNI3): c.562G> A (p.Val188Met)single nucleotide variantLikely pathogenicrs193922409GRCh37Chr 19, 55663273: 55663273
56TPM1NM_001018005.1(TPM1): c.673A> G (p.Ile225Val)single nucleotide variantLikely pathogenicrs193922410GRCh37Chr 15, 63354447: 63354447
57MYBPC3NM_000256.3(MYBPC3): c.2827C> T (p.Arg943Ter)single nucleotide variantPathogenicrs387907267GRCh37Chr 11, 47356671: 47356671
58MYH7NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del)deletionLikely pathogenicrs367543052GRCh37Chr 14, 23884685: 23884687
59MYBPC3NM_000256.3(MYBPC3): c.1156G> T (p.Glu386Ter)single nucleotide variantPathogenicrs397515888GRCh37Chr 11, 47365110: 47365110
60MYBPC3NM_000256.3(MYBPC3): c.1168delC (p.His390Metfs)deletionPathogenicrs397515889GRCh37Chr 11, 47365098: 47365098
61MYBPC3NM_000256.3(MYBPC3): c.1224-2A> Gsingle nucleotide variantPathogenicrs397515891GRCh37Chr 11, 47364815: 47364815
62MYBPC3NM_000256.3(MYBPC3): c.1227-13G> Asingle nucleotide variantLikely pathogenicrs397515893GRCh37Chr 11, 47364709: 47364709
63MYBPC3NM_000256.3(MYBPC3): c.1235_1236delTT (p.Phe412Terfs)deletionPathogenicrs397515894GRCh37Chr 11, 47364687: 47364688
64MYBPC3NM_000256.3(MYBPC3): c.1273C> T (p.Gln425Ter)single nucleotide variantPathogenicrs397515895GRCh37Chr 11, 47364650: 47364650
65MYBPC3NM_000256.3(MYBPC3): c.1310delT (p.Val437Glyfs)deletionPathogenicrs397515896GRCh37Chr 11, 47364613: 47364613
66MYBPC3NM_000256.3(MYBPC3): c.1351+2T> Csingle nucleotide variantPathogenicrs397515897GRCh37Chr 11, 47364570: 47364570
67MYBPC3NM_000256.3(MYBPC3): c.1456T> G (p.Trp486Gly)single nucleotide variantLikely pathogenicrs397515902GRCh37Chr 11, 47364382: 47364382
68MYBPC3NM_000256.3(MYBPC3): c.1458-1G> Asingle nucleotide variantPathogenicrs397515903GRCh37Chr 11, 47364296: 47364296
69MYBPC3NM_000256.3(MYBPC3): c.1483C> G (p.Arg495Gly)single nucleotide variantLikely pathogenicrs397515905GRCh37Chr 11, 47364270: 47364270
70MYBPC3NM_000256.3(MYBPC3): c.1504C> T (p.Arg502Trp)single nucleotide variantPathogenicrs375882485GRCh37Chr 11, 47364249: 47364249
71MYBPC3NM_000256.3(MYBPC3): c.1505G> A (p.Arg502Gln)single nucleotide variantPathogenicrs397515907GRCh37Chr 11, 47364248: 47364248
72MYBPC3NM_000256.3(MYBPC3): c.1575T> G (p.Tyr525Ter)single nucleotide variantPathogenicrs397515910GRCh37Chr 11, 47364178: 47364178
73MYBPC3NM_000256.3(MYBPC3): c.1624+4A> Tsingle nucleotide variantLikely pathogenicrs397515916GRCh37Chr 11, 47364125: 47364125
74MYBPC3NM_000256.3(MYBPC3): c.1693A> T (p.Lys565Ter)single nucleotide variantPathogenicrs397515920GRCh37Chr 11, 47363639: 47363639
75MYBPC3NM_000256.3(MYBPC3): c.177_187delAGAGGGCACAC (p.Glu60Alafs)deletionPathogenicrs397515925GRCh37Chr 11, 47372895: 47372905
76MYBPC3NM_000256.3(MYBPC3): c.1800delA (p.Lys600Asnfs)deletionPathogenicrs397515926GRCh37Chr 11, 47362786: 47362786
77MYBPC3NM_000256.3(MYBPC3): c.1814_1816delACG (p.Asp605del)deletionLikely pathogenicrs397515930GRCh37Chr 11, 47362770: 47362772
78MYBPC3NM_000256.3(MYBPC3): c.1863delC (p.Phe621Leufs)deletionPathogenicrs397515931GRCh37Chr 11, 47362723: 47362723
79MYBPC3NM_000256.3(MYBPC3): c.1892delT (p.Phe631Serfs)deletionPathogenicrs397515933GRCh37Chr 11, 47362694: 47362694
80MYBPC3NM_000256.3(MYBPC3): c.1895delT (p.Met632Argfs)deletionPathogenicrs397515934GRCh37Chr 11, 47362691: 47362691
81MYBPC3NM_000256.3(MYBPC3): c.1897+1G> Asingle nucleotide variantPathogenicrs397515935GRCh37Chr 11, 47362688: 47362688
82MYBPC3NM_000256.3(MYBPC3): c.1928-2A> Gsingle nucleotide variantPathogenicrs397515937GRCh37Chr 11, 47361343: 47361343
83MYBPC3NM_000256.3(MYBPC3): c.2048G> A (p.Trp683Ter)single nucleotide variantPathogenicrs397515942GRCh37Chr 11, 47361221: 47361221
84MYBPC3NM_000256.3(MYBPC3): c.2013_2016delCCCTinsGG (p.Pro672Aspfs)indelPathogenicrs397515943GRCh37Chr 11, 47361253: 47361256
85MYBPC3NM_000256.3(MYBPC3): c.2040dupT (p.Val681Cysfs)duplicationPathogenicrs397515944GRCh37Chr 11, 47361228: 47361229
86MYBPC3NM_000256.3(MYBPC3): c.2096delC (p.Pro699Glnfs)deletionPathogenicrs397515947GRCh37Chr 11, 47360927: 47360927
87MYBPC3NM_000256.3(MYBPC3): c.2113dupA (p.Thr705Asnfs)duplicationPathogenicrs397515948GRCh37Chr 11, 47360909: 47360910
88MYBPC3NM_000256.3(MYBPC3): c.2163delC (p.Glu722Argfs)deletionPathogenicrs397515952GRCh37Chr 11, 47360216: 47360216
89MYBPC3NM_000256.3(MYBPC3): c.2182G> T (p.Glu728Ter)single nucleotide variantPathogenicrs397515954GRCh37Chr 11, 47360197: 47360197
90MYBPC3NM_000256.3(MYBPC3): c.2308+1G> Asingle nucleotide variantPathogenicrs112738974GRCh37Chr 11, 47360070: 47360070
91MYBPC3NM_000256.3(MYBPC3): c.2308+1G> Tsingle nucleotide variantPathogenicrs112738974GRCh37Chr 11, 47360070: 47360070
92MYBPC3NM_000256.3(MYBPC3): c.2309-2A> Gsingle nucleotide variantPathogenicrs111729952GRCh37Chr 11, 47359347: 47359347
93MYBPC3NM_000256.3(MYBPC3): c.2311dupG (p.Val771Glyfs)duplicationPathogenicrs397515960GRCh37Chr 11, 47359342: 47359343
94MYBPC3NM_000256.3(MYBPC3): c.2373dupG (p.Trp792Valfs)duplicationPathogenicrs397515963GRCh37Chr 11, 47359280: 47359281
95MYBPC3NM_000256.3(MYBPC3): c.2454G> A (p.Trp818Ter)single nucleotide variantPathogenicrs397515965GRCh37Chr 11, 47359090: 47359090
96MYBPC3NM_000256.3(MYBPC3): c.2490dupT (p.His831Serfs)duplicationPathogenicrs397515966GRCh37Chr 11, 47359053: 47359054
97MYBPC3NM_000256.3(MYBPC3): c.2524dupT (p.Tyr842Leufs)duplicationPathogenicrs397515970GRCh37Chr 11, 47359019: 47359020
98MYBPC3NM_000256.3(MYBPC3): c.2528_2536delAGATGCGCG (p.Glu843_Arg845del)deletionLikely pathogenicrs397515972GRCh37Chr 11, 47359008: 47359016
99MYBPC3NM_000256.3(MYBPC3): c.2534_2538delGCGTC (p.Arg845Leufs)deletionPathogenicrs397515973GRCh37Chr 11, 47359006: 47359010
100MYBPC3NM_000256.3(MYBPC3): c.2541C> G (p.Tyr847Ter)single nucleotide variantPathogenicrs397515974GRCh37Chr 11, 47359003: 47359003
101MYBPC3NM_000256.3(MYBPC3): c.2556_2557delCGinsTCT (p.Gly853Leufs)indelPathogenicrs397515975GRCh37Chr 11, 47358987: 47358988
102MYBPC3NM_000256.3(MYBPC3): c.2558delG (p.Gly853Alafs)deletionPathogenicrs397515977GRCh37Chr 11, 47358986: 47358986
103MYBPC3NM_000256.3(MYBPC3): c.26-2A> Gsingle nucleotide variantPathogenicrs376395543GRCh37Chr 11, 47373058: 47373058
104MYBPC3NM_000256.3(MYBPC3): c.2610dupC (p.Ser871Glnfs)duplicationPathogenicrs397515979GRCh37Chr 11, 47357554: 47357555
105MYBPC3NM_000256.3(MYBPC3): c.2670G> A (p.Trp890Ter)single nucleotide variantPathogenicrs397515982GRCh37Chr 11, 47357495: 47357495
106MYBPC3NM_000256.3(MYBPC3): c.2833_2834delCG (p.Arg945Glyfs)deletionPathogenicrs397515987GRCh37Chr 11, 47356664: 47356665
107MYBPC3NM_000256.3(MYBPC3): c.2864_2865delCT (p.Pro955Argfs)deletionPathogenicrs397515990GRCh37Chr 11, 47356633: 47356634
108MYBPC3NM_000256.3(MYBPC3): c.2905+1G> Asingle nucleotide variantPathogenicrs397515991GRCh37Chr 11, 47356592: 47356592
109MYBPC3NM_000256.3(MYBPC3): c.2905+1G> Csingle nucleotide variantPathogenicrs397515991GRCh37Chr 11, 47356592: 47356592
110MYBPC3NM_000256.3(MYBPC3): c.2905C> T (p.Gln969Ter)single nucleotide variantPathogenicrs397515992GRCh37Chr 11, 47356593: 47356593
111MYBPC3NM_000256.3(MYBPC3): c.2943_2947delGACCA (p.Gln981Hisfs)deletionPathogenicrs397515995GRCh37Chr 11, 47355520: 47355524
112MYBPC3NM_000256.3(MYBPC3): c.3040delC (p.Leu1014Trpfs)deletionPathogenicrs397515997GRCh37Chr 11, 47355258: 47355258
113MYBPC3NM_000256.3(MYBPC3): c.3068dupA (p.Asn1023Lysfs)duplicationPathogenicrs397516001GRCh37Chr 11, 47355229: 47355230
114MYBPC3NM_000256.3(MYBPC3): c.3181C> T (p.Gln1061Ter)single nucleotide variantPathogenicrs397516005GRCh37Chr 11, 47355117: 47355117
115MYBPC3NM_000256.3(MYBPC3): c.3190+2T> Gsingle nucleotide variantPathogenicrs113358486GRCh37Chr 11, 47355106: 47355106
116MYBPC3NM_000256.3(MYBPC3): c.3233G> A (p.Trp1078Ter)single nucleotide variantPathogenicrs397516006GRCh37Chr 11, 47354842: 47354842
117MYBPC3NM_000256.3(MYBPC3): c.3192dupC (p.Lys1065Glnfs)duplicationPathogenicrs397516007GRCh37Chr 11, 47354882: 47354883
118MYBPC3NM_000256.3(MYBPC3): c.3226_3227insT (p.Asp1076Valfs)insertionPathogenicrs397516008GRCh37Chr 11, 47354848: 47354849
119MYBPC3NM_000256.3(MYBPC3): c.3253G> T (p.Glu1085Ter)single nucleotide variantPathogenicrs397516010GRCh37Chr 11, 47354822: 47354822
120MYBPC3NM_000256.3(MYBPC3): c.3293G> A (p.Trp1098Ter)single nucleotide variantPathogenicrs397516013GRCh37Chr 11, 47354782: 47354782
121MYBPC3NM_000256.3(MYBPC3): c.3297dupG (p.Tyr1100Valfs)duplicationPathogenicrs397516014GRCh37Chr 11, 47354777: 47354778
122MYBPC3NM_000256.3(MYBPC3): c.3330+5G> Csingle nucleotide variantPathogenicrs373746463GRCh37Chr 11, 47354740: 47354740
123MYBPC3NM_000256.3(MYBPC3): c.3330+5G> Tsingle nucleotide variantLikely pathogenicrs373746463GRCh37Chr 11, 47354740: 47354740
124MYBPC3NM_000256.3(MYBPC3): c.3476_3479dupTTAT (p.Pro1161Tyrfs)duplicationPathogenicrs397516019GRCh37Chr 11, 47354376: 47354379
125MYBPC3NM_000256.3(MYBPC3): c.3490+1G> Asingle nucleotide variantPathogenicrs397516020GRCh37Chr 11, 47354364: 47354364
126MYBPC3NM_000256.3(MYBPC3): c.3491-2A> Tsingle nucleotide variantPathogenicrs397516022GRCh37Chr 11, 47354255: 47354255
127MYBPC3NM_000256.3(MYBPC3): c.350delC (p.Pro117Leufs)deletionPathogenicrs397516023GRCh37Chr 11, 47372109: 47372109
128MYBPC3NM_000256.3(MYBPC3): c.3548T> G (p.Phe1183Cys)single nucleotide variantLikely pathogenicrs397516024GRCh37Chr 11, 47354196: 47354196
129MYBPC3NM_000256.3(MYBPC3): c.3624dupC (p.Lys1209Glnfs)duplicationPathogenicrs397516029GRCh37Chr 11, 47354119: 47354120
130MYBPC3NM_000256.3(MYBPC3): c.3624delC (p.Lys1209Serfs)deletionPathogenicrs397516030GRCh37Chr 11, 47354120: 47354120
131MYBPC3NM_000256.3(MYBPC3): c.3627+1G> Asingle nucleotide variantPathogenicrs397516031GRCh37Chr 11, 47354116: 47354116
132MYBPC3NM_000256.3(MYBPC3): c.362delC (p.Pro121Argfs)deletionPathogenicrs397516032GRCh37Chr 11, 47372097: 47372097
133MYBPC3NM_000256.3(MYBPC3): c.3694A> T (p.Lys1232Ter)single nucleotide variantPathogenicrs397516035GRCh37Chr 11, 47353743: 47353743
134MYBPC3NM_000256.3(MYBPC3): c.3697C> T (p.Gln1233Ter)single nucleotide variantPathogenicrs397516037GRCh37Chr 11, 47353740: 47353740
135MYBPC3NM_000256.3(MYBPC3): c.3735delC (p.Phe1246Leufs)deletionLikely pathogenicrs397516038GRCh37Chr 11, 47353702: 47353702
136MYBPC3NM_000256.3(MYBPC3): c.3797G> A (p.Cys1266Tyr)single nucleotide variantLikely pathogenicrs397516041GRCh37Chr 11, 47353640: 47353640
137MYBPC3NM_000256.3(MYBPC3): c.3811C> T (p.Arg1271Ter)single nucleotide variantPathogenicrs397516042GRCh37Chr 11, 47353626: 47353626
138MYBPC3NM_000256.3(MYBPC3): c.3815-1G> Asingle nucleotide variantLikely pathogenicrs397516044GRCh37Chr 11, 47353433: 47353433
139MYBPC3NM_000256.3(MYBPC3): c.3G> C (p.Met1Ile)single nucleotide variantLikely pathogenicrs397516045GRCh37Chr 11, 47374196: 47374196
140MYBPC3NM_000256.3(MYBPC3): c.431_432delGT (p.Gly144Alafs)deletionPathogenicrs397516047GRCh37Chr 11, 47371638: 47371639
141MYBPC3NM_000256.3(MYBPC3): c.436dupA (p.Thr146Asnfs)duplicationPathogenicrs397516049GRCh37Chr 11, 47371633: 47371634
142MYBPC3NM_000256.3(MYBPC3): c.459delC (p.Ile154Leufs)deletionPathogenicrs397516052GRCh37Chr 11, 47371611: 47371611
143MYBPC3NM_000256.3(MYBPC3): c.506-1G> Tsingle nucleotide variantPathogenicrs397516056GRCh37Chr 11, 47371474: 47371474
144MYBPC3NM_000256.3(MYBPC3): c.506-2A> Csingle nucleotide variantPathogenicrs397516057GRCh37Chr 11, 47371475: 47371475
145MYBPC3NM_000256.3(MYBPC3): c.540_559del20 (p.Ala181Cysfs)deletionPathogenicrs397516058GRCh37Chr 11, 47371420: 47371439
146MYBPC3NM_000256.3(MYBPC3): c.551dupT (p.Lys185Glufs)duplicationLikely pathogenicrs397516059GRCh37Chr 11, 47371427: 47371428
147MYBPC3NM_000256.3(MYBPC3): c.613C> T (p.Gln205Ter)single nucleotide variantPathogenicrs397516061GRCh37Chr 11, 47371366: 47371366
148MYBPC3NM_000256.3(MYBPC3): c.655-1G> Asingle nucleotide variantPathogenicrs397516067GRCh37Chr 11, 47370093: 47370093
149MYBPC3NM_000256.3(MYBPC3): c.655G> C (p.Val219Leu)single nucleotide variantLikely pathogenicrs397516068GRCh37Chr 11, 47370092: 47370092
150MYBPC3NM_000256.3(MYBPC3): c.710A> C (p.Tyr237Ser)single nucleotide variantLikely pathogenicrs397516070GRCh37Chr 11, 47370037: 47370037
151MYBPC3NM_000256.3(MYBPC3): c.772+1G> Asingle nucleotide variantPathogenicrs397516072GRCh37Chr 11, 47369974: 47369974
152MYBPC3NM_000256.3(MYBPC3): c.821+1G> Asingle nucleotide variantPathogenicrs397516073GRCh37Chr 11, 47369407: 47369407
153MYBPC3NM_000256.3(MYBPC3): c.772G> A (p.Glu258Lys)single nucleotide variantPathogenicrs397516074GRCh37Chr 11, 47369975: 47369975
154MYBPC3NM_000256.3(MYBPC3): c.821+2T> Csingle nucleotide variantPathogenicrs397516076GRCh37Chr 11, 47369406: 47369406
155MYBPC3NM_000256.3(MYBPC3): c.821+5G> Asingle nucleotide variantLikely pathogenicrs397516077GRCh37Chr 11, 47369403: 47369403
156MYBPC3NM_000256.3(MYBPC3): c.836G> C (p.Gly279Ala)single nucleotide variantLikely pathogenicrs375774648GRCh37Chr 11, 47369217: 47369217
157MYBPC3NM_000256.3(MYBPC3): c.913_914delTT (p.Phe305Profs)deletionPathogenicrs397516080GRCh37Chr 11, 47368190: 47368191
158MYBPC3NM_000256.3(MYBPC3): c.927-10C> Asingle nucleotide variantLikely pathogenicrs201078659GRCh37Chr 11, 47367931: 47367931
159MYBPC3NM_000256.3(MYBPC3): c.927-2A> Gsingle nucleotide variantPathogenicrs397516082GRCh37Chr 11, 47367923: 47367923
160MYBPC3NM_000256.3(MYBPC3): c.927-9G> Asingle nucleotide variantPathogenicrs397516083GRCh37Chr 11, 47367930: 47367930
161MYBPC3NM_000256.3(MYBPC3): c.984_1054del71 (p.Pro329Glnfs)deletionPathogenicGRCh37Chr 11, 47367794: 47367864
162MYH7NM_000257.3(MYH7): c.1273G> A (p.Gly425Arg)single nucleotide variantLikely pathogenicrs397516097GRCh37Chr 14, 23898298: 23898298
163MYH7NM_000257.3(MYH7): c.1318G> A (p.Val440Met)single nucleotide variantLikely pathogenicrs397516098GRCh37Chr 14, 23898253: 23898253
164MYH7NM_000257.3(MYH7): c.1358G> A (p.Arg453His)single nucleotide variantLikely pathogenicrs397516101GRCh37Chr 14, 23898213: 23898213
165MYH7NM_000257.3(MYH7): c.1370T> C (p.Ile457Thr)single nucleotide variantLikely pathogenicrs397516103GRCh37Chr 14, 23898201: 23898201
166MYH7NM_000257.3(MYH7): c.1532T> C (p.Ile511Thr)single nucleotide variantLikely pathogenicrs397516110GRCh37Chr 14, 23897755: 23897755
167MYH7NM_000257.3(MYH7): c.1598T> A (p.Ile533Asn)single nucleotide variantLikely pathogenicrs397516114GRCh37Chr 14, 23897084: 23897084
168MYH7NM_000257.3(MYH7): c.1742A> G (p.His581Arg)single nucleotide variantLikely pathogenicrs397516120GRCh37Chr 14, 23896940: 23896940
169MYH7NM_000257.3(MYH7): c.1750G> A (p.Gly584Ser)single nucleotide variantLikely pathogenicrs121913626GRCh37Chr 14, 23896932: 23896932
170MYH7NM_000257.3(MYH7): c.1757T> C (p.Val586Ala)single nucleotide variantLikely pathogenicrs397516121GRCh37Chr 14, 23896925: 23896925
171MYH7NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys)single nucleotide variantLikely pathogenicrs397516127GRCh37Chr 14, 23896043: 23896043
172MYH7NM_000257.3(MYH7): c.1988G> A (p.Arg663His)single nucleotide variantPathogenicrs371898076GRCh37Chr 14, 23896042: 23896042
173MYH7NM_000257.3(MYH7): c.2069T> C (p.Met690Thr)single nucleotide variantLikely pathogenicrs397516128GRCh37Chr 14, 23895266: 23895266
174MYH7NM_000257.3(MYH7): c.2093T> C (p.Val698Ala)single nucleotide variantLikely pathogenicrs397516130GRCh37Chr 14, 23895242: 23895242
175MYH7NM_000257.3(MYH7): c.2105T> A (p.Ile702Asn)single nucleotide variantLikely pathogenicrs397516132GRCh37Chr 14, 23895230: 23895230
176MYH7NM_000257.3(MYH7): c.2123G> C (p.Gly708Ala)single nucleotide variantLikely pathogenicrs397516134GRCh37Chr 14, 23895212: 23895212
177MYH7NM_000257.3(MYH7): c.2167C> G (p.Arg723Gly)single nucleotide variantPathogenicrs121913630GRCh37Chr 14, 23895023: 23895023
178MYH7NM_000257.3(MYH7): c.2221G> A (p.Gly741Arg)single nucleotide variantPathogenicrs121913632GRCh37Chr 14, 23894969: 23894969
179MYH7NM_000257.3(MYH7): c.2285A> G (p.Lys762Arg)single nucleotide variantLikely pathogenicrs397516140GRCh37Chr 14, 23894905: 23894905
180MYH7NM_000257.3(MYH7): c.2296A> C (p.Lys766Gln)single nucleotide variantLikely pathogenicrs397516141GRCh37Chr 14, 23894618: 23894618
181MYH7NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr)single nucleotide variantPathogenicrs3218716GRCh37Chr 14, 23894525: 23894525
182MYH7NM_000257.3(MYH7): c.2502C> G (p.Phe834Leu)single nucleotide variantLikely pathogenicrs397516152GRCh37Chr 14, 23894155: 23894155
183MYH7NM_000257.3(MYH7): c.2513C> T (p.Pro838Leu)single nucleotide variantLikely pathogenicrs397516153GRCh37Chr 14, 23894144: 23894144
184MYH7NM_000257.3(MYH7): c.2525G> A (p.Ser842Asn)single nucleotide variantLikely pathogenicrs397516154GRCh37Chr 14, 23894132: 23894132
185MYH7NM_000257.3(MYH7): c.2623_2625delGAG (p.Glu875del)deletionLikely pathogenicrs397516159GRCh37Chr 14, 23894032: 23894034
186MYH7NM_000257.3(MYH7): c.2681A> G (p.Glu894Gly)single nucleotide variantLikely pathogenicrs397516161GRCh37Chr 14, 23893357: 23893357
187MYH7NM_000257.3(MYH7): c.2744T> C (p.Leu915Pro)single nucleotide variantPathogenicrs397516166GRCh37Chr 14, 23893294: 23893294
188MYH7NM_000257.3(MYH7): c.2788G> A (p.Glu930Lys)single nucleotide variantPathogenicrs397516171GRCh37Chr 14, 23893250: 23893250
189MYH7NM_000257.3(MYH7): c.2791_2793delGAG (p.Glu931del)deletionPathogenicrs397516172GRCh37Chr 14, 23893245: 23893247
190MYH7NM_000257.3(MYH7): c.3134G> T (p.Arg1045Leu)single nucleotide variantLikely pathogenicrs397516178GRCh37Chr 14, 23891500: 23891500
191MYH7NM_000257.3(MYH7): c.343T> C (p.Tyr115His)single nucleotide variantLikely pathogenicrs397516183GRCh37Chr 14, 23902295: 23902295
192MYH7NM_000257.3(MYH7): c.4135G> A (p.Ala1379Thr)single nucleotide variantPathogenicrs397516202GRCh37Chr 14, 23887453: 23887453
193MYH7NM_000257.3(MYH7): c.438G> T (p.Lys146Asn)single nucleotide variantPathogenicrs397516212GRCh37Chr 14, 23901912: 23901912
194MYH7NM_000257.3(MYH7): c.4954G> T (p.Asp1652Tyr)single nucleotide variantLikely pathogenicrs397516233GRCh37Chr 14, 23885041: 23885041
195MYH7NM_000257.3(MYH7): c.49C> T (p.Arg17Cys)single nucleotide variantLikely pathogenicrs45511396GRCh37Chr 14, 23902893: 23902893
196MYH7NM_000257.3(MYH7): c.5015_5020delCCATCG (p.Ala1672_Ile1673del)deletionLikely pathogenicrs397516234GRCh37Chr 14, 23884975: 23884980
197MYH7NM_000257.3(MYH7): c.506G> A (p.Arg169Lys)single nucleotide variantLikely pathogenicrs397516237GRCh37Chr 14, 23901712: 23901712
198MYH7NM_000257.3(MYH7): c.507A> T (p.Arg169Ser)single nucleotide variantLikely pathogenicrs397516238GRCh37Chr 14, 23901711: 23901711
199MYH7NM_000257.3(MYH7): c.5302G> A (p.Glu1768Lys)single nucleotide variantLikely pathogenicrs397516241GRCh37Chr 14, 23884461: 23884461
200MYH7NM_000257.3(MYH7): c.5341C> T (p.Arg1781Cys)single nucleotide variantLikely pathogenicrs397516245GRCh37Chr 14, 23884422: 23884422
201MYH7NM_000257.3(MYH7): c.5342G> A (p.Arg1781His)single nucleotide variantLikely pathogenicrs397516246GRCh37Chr 14, 23884421: 23884421
202MYH7NM_000257.3(MYH7): c.5380C> A (p.Gln1794Lys)single nucleotide variantLikely pathogenicrs397516247GRCh37Chr 14, 23884383: 23884383
203MYH7NM_000257.3(MYH7): c.5588G> A (p.Arg1863Gln)single nucleotide variantLikely pathogenicrs45520836GRCh37Chr 14, 23883283: 23883283
204MYH7NM_000257.3(MYH7): c.560A> G (p.Asn187Ser)single nucleotide variantLikely pathogenicrs397516249GRCh37Chr 14, 23901049: 23901049
205MYH7NM_000257.3(MYH7): c.715G> A (p.Asp239Asn)single nucleotide variantLikely pathogenicrs397516264GRCh37Chr 14, 23900811: 23900811
206MYH7NM_000257.3(MYH7): c.788T> C (p.Ile263Thr)single nucleotide variantLikely pathogenicrs397516269GRCh37Chr 14, 23900635: 23900635
207MYH7NM_000257.3(MYH7): c.872C> T (p.Ser291Phe)single nucleotide variantLikely pathogenicrs397516272GRCh37Chr 14, 23900133: 23900133
208MYH7NM_000257.3(MYH7): c.968T> A (p.Ile323Asn)single nucleotide variantLikely pathogenicrs397516275GRCh37Chr 14, 23899800: 23899800
209TNNI3NM_000363.4(TNNI3): c.12-1G> Tsingle nucleotide variantLikely pathogenicrs397516340GRCh37Chr 19, 55668677: 55668677
210TNNI3NM_000363.4(TNNI3): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenicrs397516341GRCh37Chr 19, 55668957: 55668957
211TNNI3NM_000363.4(TNNI3): c.307C> T (p.Arg103Cys)single nucleotide variantLikely pathogenicrs397516344GRCh37Chr 19, 55666174: 55666174
212TNNI3NM_000363.4(TNNI3): c.422G> A (p.Arg141Gln)single nucleotide variantLikely pathogenicrs397516347GRCh37Chr 19, 55665525: 55665525
213TNNI3NM_000363.4(TNNI3): c.431T> C (p.Leu144Pro)single nucleotide variantLikely pathogenicrs121917760GRCh37Chr 19, 55665516: 55665516
214TNNI3NM_000363.4(TNNI3): c.434G> A (p.Arg145Gln)single nucleotide variantLikely pathogenicrs397516349GRCh37Chr 19, 55665513: 55665513
215TNNI3NM_000363.4(TNNI3): c.532_534delAAG (p.Lys178del)deletionPathogenicrs397516351GRCh37Chr 19, 55665413: 55665415
216TNNI3NM_000363.4(TNNI3): c.470C> T (p.Ala157Val)single nucleotide variantPathogenicrs397516353GRCh37Chr 19, 55665477: 55665477
217TNNI3NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln)single nucleotide variantLikely pathogenicrs397516354GRCh37Chr 19, 55665462: 55665462
218TNNI3NM_000363.4(TNNI3): c.485G> C (p.Arg162Pro)single nucleotide variantLikely pathogenicrs397516354GRCh37Chr 19, 55665462: 55665462
219TNNI3NM_000363.4(TNNI3): c.557G> A (p.Arg186Gln)single nucleotide variantPathogenicrs397516357GRCh37Chr 19, 55663278: 55663278
220TPM1NM_001018005.1(TPM1): c.457C> G (p.His153Asp)single nucleotide variantLikely pathogenicrs397516372GRCh37Chr 15, 63351844: 63351844
221TPM1NM_001018005.1(TPM1): c.790A> G (p.Lys264Glu)single nucleotide variantLikely pathogenicrs397516390GRCh37Chr 15, 63356280: 63356280
222MYL2NM_000432.3(MYL2): c.170G> A (p.Gly57Glu)single nucleotide variantLikely pathogenicrs199474809GRCh37Chr 12, 111352094: 111352094
223MYL2NM_000432.3(MYL2): c.193G> A (p.Glu65Lys)single nucleotide variantLikely pathogenicrs397516398GRCh37Chr 12, 111352071: 111352071
224MYL2NM_000432.3(MYL2): c.260G> C (p.Gly87Ala)single nucleotide variantLikely pathogenicrs397516399GRCh37Chr 12, 111352004: 111352004
225MYL2NM_000432.3(MYL2): c.401A> C (p.Glu134Ala)single nucleotide variantLikely pathogenicrs143139258GRCh37Chr 12, 111350901: 111350901
226MYL2NM_000432.3(MYL2): c.485G> A (p.Gly162Glu)single nucleotide variantLikely pathogenicrs397516406GRCh37Chr 12, 111348897: 111348897
227MYL2NM_000432.3(MYL2): c.488A> C (p.Glu163Ala)single nucleotide variantLikely pathogenicrs397516407GRCh37Chr 12, 111348894: 111348894
228MYL2NM_000432.3(MYL2): c.80A> G (p.Gln27Arg)single nucleotide variantLikely pathogenicrs397516408GRCh37Chr 12, 111356921: 111356921
229TNNT2NM_000364.3(TNNT2): c.287A> C (p.Asp96Ala)single nucleotide variantLikely pathogenicrs397516455GRCh37Chr 1, 201334745: 201334745
230TNNT2NM_000364.3(TNNT2): c.304C> T (p.Arg102Trp)single nucleotide variantPathogenicrs397516456GRCh37Chr 1, 201334426: 201334426
231TNNT2NM_000364.3(TNNT2): c.311G> A (p.Arg104His)single nucleotide variantPathogenicrs397516457GRCh37Chr 1, 201334419: 201334419
232TNNT2NM_000364.3(TNNT2): c.311G> T (p.Arg104Leu)single nucleotide variantLikely pathogenicrs397516457GRCh37Chr 1, 201334419: 201334419
233TNNT2NM_000364.3(TNNT2): c.321G> T (p.Lys107Asn)single nucleotide variantLikely pathogenicrs397516459GRCh37Chr 1, 201334409: 201334409
234TNNT2NM_000364.3(TNNT2): c.418C> T (p.Arg140Cys)single nucleotide variantLikely pathogenicrs397516463GRCh37Chr 1, 201333497: 201333497
235TNNT2NM_000364.3(TNNT2): c.517_519delGAG (p.Glu173del)deletionPathogenicrs397516470GRCh37Chr 1, 201332505: 201332507
236TNNT2NM_000364.3(TNNT2): c.842+1G> Asingle nucleotide variantPathogenicrs111377893GRCh37Chr 1, 201328750: 201328750
237TPM1NM_001018005.1(TPM1): c.609C> G (p.Asn203Lys)single nucleotide variantLikely pathogenicrs397516486GRCh37Chr 15, 63353957: 63353957
238PRKAG2NM_016203.3(PRKAG2): c.1390G> A (p.Asp464Asn)single nucleotide variantLikely pathogenicrs397517264GRCh37Chr 7, 151262815: 151262815
239PRKAG2NM_016203.3(PRKAG2): c.967T> A (p.Phe323Ile)single nucleotide variantLikely pathogenicrs397517283GRCh37Chr 7, 151272015: 151272015
240LMNANM_005572.3(LMNA): c.356G> C (p.Arg119Pro)single nucleotide variantLikely pathogenicrs397517902GRCh37Chr 1, 156085065: 156085065
241PRKAG2NM_016203.3(PRKAG2): c.905G> A (p.Arg302Gln)single nucleotide variantPathogenicrs121908987GRCh37Chr 7, 151273498: 151273498
242PRKAG2NM_016203.3(PRKAG2): c.1199C> A (p.Thr400Asn)single nucleotide variantLikely pathogenicrs28938173GRCh37Chr 7, 151265836: 151265836
243PRKAG2NM_016203.3(PRKAG2): c.1592G> A (p.Arg531Gln)single nucleotide variantPathogenicrs121908991GRCh37Chr 7, 151257696: 151257696
244MYBPC3NM_000256.3(MYBPC3)duplicationPathogenicrs193922384GRCh38Chr 11, 47332127: 47332144
245MYBPC3NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln)single nucleotide variantPathogenicrs121909374GRCh37Chr 11, 47364129: 47364129
246MYBPC3NM_000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter)single nucleotide variantPathogenicrs121909377GRCh37Chr 11, 47354789: 47354789
247MYBPC3NM_000256.3(MYBPC3): c.3330+2T> Gsingle nucleotide variantPathogenicrs387906397GRCh37Chr 11, 47354743: 47354743
248MT-TGm.9997T> Csingle nucleotide variantPathogenicrs121434475GRCh37Chr MT, 9997: 9997

Expression for genes affiliated with Hypertrophic Cardiomyopathy, Midventricular, Digenic

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Expression patterns in normal tissues for genes affiliated with Hypertrophic Cardiomyopathy, Midventricular, Digenic

Search GEO for disease gene expression data for Hypertrophic Cardiomyopathy, Midventricular, Digenic.

Pathways for genes affiliated with Hypertrophic Cardiomyopathy, Midventricular, Digenic

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Pathways related to Hypertrophic Cardiomyopathy, Midventricular, Digenic according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8MYL2, MYH7
2
Show member pathways
9.6PRKAG2, MYLK2, ACTG1
3
Show member pathways
Calcium Regulation in the Cardiac Cell37
9.6MYLK2, MYL2, ACTG1
4
Show member pathways
9.6MYL2, MYLK2, ACTG1
5
Show member pathways
9.5MYL2, MYH7, ACTG1
6
Show member pathways
9.5MYL2, ACTG1, MYH7
79.5MYL2, MYH7, ACTG1
8
Show member pathways
9.5MYH7, ACTG1, MYL2
9
Show member pathways
9.5MYH7, MYL2, ACTG1
109.4ACTG1, CAV3
11
Show member pathways
9.2MYLK2, MYL2, ACTG1, MYH7
12
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
9.2ACTG1, MYL2, MYH7, MYLK2
13
Show member pathways
9.2ACTG1, PRKAG2, MYH7, MYL2
149.0TNNI3, TNNT2, MYL2
15
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
8.8MYL2, ACTG1, MYLK2, CAV3
168.6TNNT2, TPM1, ACTG1, TNNI3
178.2MYL2, TNNT2, TNNI3, TPM1, MYH7
188.2TPM1, MYH7, TNNT2, TNNI3, MYL2
19
Show member pathways
7.3TPM1, ACTG1, TNNT2, TCAP, MYL2, MYBPC3
20
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
7.1MYBPC3, MYH7, MYL2, PRKAG2, ACTG1, TNNI3

Compounds for genes affiliated with Hypertrophic Cardiomyopathy, Midventricular, Digenic

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Compounds related to Hypertrophic Cardiomyopathy, Midventricular, Digenic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(r)-(+)-blebbistatin619.9MYH7, MYL2
2bts619.9MYH7, MYL2
3(s)-(-)-blebbistatin619.9MYH7, MYL2
4actomyosin449.8MYH7, MYLK2
5(+-)-blebbistatin619.8MYH7, MYL2
6phenylephrine44 28 24 1112.0CAV3, MYH7
7sodium44 2410.0CAV3, PRKAG2, MYH7
8glycogen44 249.6TNNT2, PRKAG2, CAV3
9creatinine448.3TNNT2, TNNI3, MYH7, CAV3
10calcium44 50 24 1110.0CAV3, TNNT2, TNNI3, TPM1, MYLK2, MYH7

GO Terms for genes affiliated with Hypertrophic Cardiomyopathy, Midventricular, Digenic

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Cellular components related to Hypertrophic Cardiomyopathy, Midventricular, Digenic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myofibrilGO:0300169.8MYL2, ACTG1
2A bandGO:0316729.8MYL2, MYBPC3
3filamentous actinGO:0319419.8ACTG1, TPM1
4myosin complexGO:0164599.7MYL2, MYH7
5troponin complexGO:0058619.5TNNT2, TNNI3
6cytoskeletonGO:0058569.4ACTG1, MYL2, TPM1
7stress fiberGO:0017259.3MYH7, TPM1
8Z discGO:0300188.9CAV3, TCAP, MYH7
9sarcomereGO:0300177.7MYL2, TNNT2, TNNI3, TPM1, MYBPC3, MYLK2
10cytosolGO:0058297.2TNNT2, TNNI3, TPM1, MYBPC3, MYL2, TCAP

Biological processes related to Hypertrophic Cardiomyopathy, Midventricular, Digenic according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1regulation of muscle filament slidingGO:03297110.0MYBPC3, MYLK2
2regulation of striated muscle contractionGO:0069429.9MYL2, MYBPC3
3heart contractionGO:0600479.8TNNI3, MYL2
4cardiac muscle tissue morphogenesisGO:0550089.8TCAP, MYLK2
5cardiac myofibril assemblyGO:0550039.7TCAP, MYL2
6striated muscle contractionGO:0069419.5MYH7, MYLK2
7negative regulation of ATPase activityGO:0327809.5TNNI3, TNNT2
8adult heart developmentGO:0075129.5TCAP, MYH7
9regulation of muscle contractionGO:0069379.4TNNT2, TPM1
10negative regulation of protein kinase activityGO:0064699.3CAV3, PRKAG2
11positive regulation of ATPase activityGO:0327819.3TNNT2, TPM1, MYBPC3
12regulation of heart rateGO:0020279.1CAV3, MYH7, MYBPC3
13regulation of heart contractionGO:0080168.8CAV3, TPM1, TNNT2
14sarcomere organizationGO:0452148.5ACTG1, TCAP, MYBPC3, TPM1, TNNT2
15cardiac muscle contractionGO:0600488.2TNNI3, TPM1, MYBPC3, MYLK2, MYL2, TCAP
16ventricular cardiac muscle tissue morphogenesisGO:0550108.0TNNT2, TNNI3, TPM1, MYBPC3, MYH7, MYL2
17muscle filament slidingGO:0300497.5TCAP, TNNT2, TNNI3, TPM1, MYBPC3, MYH7

Molecular functions related to Hypertrophic Cardiomyopathy, Midventricular, Digenic according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1myosin heavy chain bindingGO:0320369.7MYL2, MYBPC3
2troponin C bindingGO:0301729.4TNNT2, TNNI3
3titin bindingGO:0314329.2TCAP, MYBPC3
4ion channel bindingGO:0443259.1CAV3, TCAP
5structural constituent of cytoskeletonGO:0052009.0TNNT2, TPM1, ACTG1
6structural constituent of muscleGO:0083078.9TCAP, MYL2, MYBPC3, TPM1
7actin bindingGO:0037798.2TNNT2, TNNI3, TPM1, MYBPC3, MYH7

Products for genes affiliated with Hypertrophic Cardiomyopathy, Midventricular, Digenic

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hypertrophic Cardiomyopathy, Midventricular, Digenic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet