Cardiomyopathy, Familial Hypertrophic, 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CMH6 MCID: CRD232 MIFTS: 39	Cardiomyopathy, Familial Hypertrophic, 6 (CMH6) Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 6

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 6:

Name: Cardiomyopathy, Familial Hypertrophic, 6 ⁵⁶ ⁷¹

Cardiomyopathy, Familial Hypertrophic 6 ¹² ⁷³ ¹³

Cmh6 ⁵⁶ ¹² ⁷³

Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome ⁷³ ⁶

Familial Hypertrophic Cardiomyopathy 6 ²⁹ ⁶

Cardiomyopathy, Hypertrophic 6 ⁵⁶ ²⁹

Hypertrophic Cardiomyopathy 6 ¹² ¹⁵

Cardiomyopathy, Hypertrophic, Familial, Type 6 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )

HPO:

³¹

cardiomyopathy, familial hypertrophic, 6:
Inheritance autosomal dominant inheritance heterogeneous

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110312

OMIM ⁵⁶ 600858

OMIM Phenotypic Series ⁵⁶ PS192600

MeSH ⁴³ D024741

MedGen ⁴¹ C1833236

SNOMED-CT via HPO ⁶⁸ 195060002 233873004 233917008 more

UMLS ⁷¹ C1833236

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Summaries for Cardiomyopathy, Familial Hypertrophic, 6

UniProtKB/Swiss-Prot : ⁷³ Cardiomyopathy, familial hypertrophic 6: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH6 patients present Wolff-Parkinson-White ventricular preexcitation, enlarged myocytes without myofiber disarray, and glycogen-containing cytosolic vacuoles within cardiomyocytes.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 6, also known as cardiomyopathy, familial hypertrophic 6, is related to atrial standstill 1 and cardiomyopathy, familial hypertrophic, 1. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 6 is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2). Affiliated tissues include heart, skeletal muscle and testes, and related phenotypes are hypertrophic cardiomyopathy and atrioventricular block

Disease Ontology : ¹² A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2).

OMIM : ⁵⁶ Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild-to-severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by Burwinkel et al., 2005). (600858)

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Related Diseases for Cardiomyopathy, Familial Hypertrophic, 6

Diseases in the Hypertrophic Cardiomyopathy family:

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

Diseases related to Cardiomyopathy, Familial Hypertrophic, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	atrial standstill 1	10.5
2	cardiomyopathy, familial hypertrophic, 1	10.5
3	wolff-parkinson-white syndrome	10.5
4	hypertrophic cardiomyopathy	10.5
5	congenital structural myopathy	9.8	TMOD1 LMOD2
6	megacystis-microcolon-intestinal hypoperistalsis syndrome	9.7	TMOD1 LMOD2 LMOD1
7	west nile fever	9.5	DEFB105B DEFB105A
8	cardiomyopathy, familial hypertrophic, 12	9.4	DEFB105B DEFB105A
9	osteopetrosis, autosomal recessive 2	9.4	DEFB105B DEFB105A
10	congenital bile acid synthesis defect	9.2	DEFB105B DEFB105A

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 6:

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Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 6

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 6:

³¹ (show all 9)

#	Description	HPO Source Accession
1	hypertrophic cardiomyopathy ³¹	HP:0001639
2	atrioventricular block ³¹	HP:0001678
3	atrial fibrillation ³¹	HP:0005110
4	wolff-parkinson-white syndrome ³¹	HP:0001716
5	ventricular preexcitation ³¹	HP:0004309
6	sinus bradycardia ³¹	HP:0001688
7	left bundle branch block ³¹	HP:0011713
8	asymmetric septal hypertrophy ³¹	HP:0001670
9	myofiber disarray ³¹	HP:0031318

Symptoms via clinical synopsis from OMIM:

⁵⁶

Cardiovascular Heart:
hypertrophic cardiomyopathy
atrioventricular block
atrial fibrillation
sinus bradycardia
left bundle branch block
more

Muscle Soft Tissue:
glycogenosis of skeletal muscle, mild (in some patients)

Clinical features from OMIM:

600858

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Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 6

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 6

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Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 6

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 6:

#	Genetic test	Affiliating Genes
1	Familial Hypertrophic Cardiomyopathy 6 ²⁹	PRKAG2
2	Cardiomyopathy, Hypertrophic 6 ²⁹

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 6

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 6:

⁴⁰

Heart, Skeletal Muscle, Testes

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Publications for Cardiomyopathy, Familial Hypertrophic, 6

Articles related to Cardiomyopathy, Familial Hypertrophic, 6:

(show all 35)

#	Title	Authors	PMID	Year
1	Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation. ⁵⁶ ⁶	Kelly BP...Ensing GJ	19787389	2009
2	Shared genetic causes of cardiac hypertrophy in children and adults. ⁵⁶ ⁶	Morita H...Seidman CE	18403758	2008
3	A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis. ⁶ ⁵⁶	Laforet P...Duboc D	16487706	2006
4	Glycogen storage diseases presenting as hypertrophic cardiomyopathy. ⁶ ⁵⁶	Arad M...Seidman JG	15673802	2005
5	Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. ⁵⁶ ⁶	Arad M...Seidman CE	11827995	2002
6	Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. ⁵⁶ ⁶	Blair E...Watkins H	11371514	2001
7	Genetically transmitted ventricular pre-excitation in a family with hypertrophic cardiomyopathy. ⁵⁶ ⁶	Sinha SC...Arora R	10820940	2000
8	Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. ⁶ ⁵⁶	MacRae CA...Rowland E	7657794	1995
9	Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ⁶	Kalia SS...Miller DT	27854360	2017
10	ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ⁶	ACMG Board of Directors	25356965	2015
11	2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). ⁶	Authors/Task Force members...Watkins H	25173338	2014
12	ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ⁶	Green RC...American College of Medical Genetics and Genomics	23788249	2013
13	Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. ⁶	Gutierrez Cortes N...Rocher C	22241583	2012
14	HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). ⁶	Ackerman MJ...European Heart Rhythm Association (EHRA)	21810866	2011
15	Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ⁶	Pinto YM...Elliott PM	21267010	2011
16	Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. ⁶	Theis JL...Ackerman MJ	19808356	2009
17	Hypertrophic Cardiomyopathy Overview ⁶	Cirino AL...Ho C	20301725	2008
18	Mutations in sarcomere protein genes in left ventricular noncompaction. ⁶	Klaassen S...Thierfelder L	18506004	2008
19	Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. ⁶	Waldmuller S...Scheffold T	18258667	2008
20	Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. ⁶	Monserrat L...Castro-Beiras A	17611253	2007
21	Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation. ⁵⁶	Bayrak F...Erginel-Unaltuna N	16716659	2006
22	Gene mutations in apical hypertrophic cardiomyopathy. ⁶	Arad M...Seidman CE	16267253	2005
23	Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. ⁵⁶	Burwinkel B...Kilimann MW	15877279	2005
24	Molecular and muscle pathology in a series of caveolinopathy patients. ⁶	Fulizio L...Angelini C	15580566	2005
25	Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. ⁶	Hayashi T...Kimura A	14672715	2004
26	American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. ⁶	Maron BJ...Committee for Practice Guidelines. European Society of Cardiology	14607462	2003
27	Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. ⁵⁶	Arad M...Seidman JG	12782567	2003
28	A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. ⁶	Taylor RW...Turnbull DM	12767666	2003
29	A gene responsible for familial Wolff-Parkinson-White syndrome. ⁶	Anderson KP...Josephson ME	11586962	2001
30	Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. ⁶	Olson TM...Fananapazir L	10966831	2000
31	Electrophysiologic characteristics of accessory atrioventricular connections in an inherited form of Wolff-Parkinson-White syndrome. ⁶	Mehdirad AA...Benson DW	10355918	1999
32	An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. ⁶	Merante F...Robinson BH	8889580	1996
33	Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. ⁶	Merante F...Robinson BH	8079988	1994
34	Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. ⁶		7459150	1980
35	Leiomodins: larger members of the tropomodulin (Tmod) gene family. ⁶¹	Conley CA...Fowler VM	11318603	2001

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Genes for Cardiomyopathy, Familial Hypertrophic, 6

Genes related to Cardiomyopathy, Familial Hypertrophic, 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PRKAG2	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2	Protein Coding	1321.89	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	18403758 10355918 11371514 (more) 7657794 14607462 10820940 25173338 20301725 27854360 11586962 11827995 16487706 19787389 21267010 23788249 21810866 25356965 15673802
2	LMOD2	Leiomodin 2	Protein Coding	8.13	DISEASES inferred ¹⁵
3	TMOD1	Tropomodulin 1	Protein Coding	7.59	DISEASES inferred ¹⁵
4	LMOD1	Leiomodin 1	Protein Coding	6.22	DISEASES inferred ¹⁵
5	RCSD1	RCSD Domain Containing 1	Protein Coding	5.58	DISEASES inferred ¹⁵
6	DEFB105B	Defensin Beta 105B	Protein Coding	5.39	DISEASES inferred ¹⁵
7	DEFB105A	Defensin Beta 105A	Protein Coding	5.38	DISEASES inferred ¹⁵
8	DUSP11	Dual Specificity Phosphatase 11	Protein Coding	5.25	DISEASES inferred ¹⁵

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Variations for Cardiomyopathy, Familial Hypertrophic, 6

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 6:

⁶ (show top 50) (show all 164) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PRKAG2	NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)	SNV	Pathogenic	6846	rs121908987	7:151273498-151273498	7:151576412-151576412
2	PRKAG2	NM_016203.4(PRKAG2):c.1050_1051insTTA (p.Glu351_Leu352insLeu)	insertion	Pathogenic	6848	rs587776643	7:151269750-151269751	7:151572664-151572665
3	PRKAG2	NM_016203.4(PRKAG2):c.1463A>T (p.Asn488Ile)	SNV	Pathogenic	6850	rs121908989	7:151261285-151261285	7:151564199-151564199
4	PRKAG2	NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg)	SNV	Pathogenic	6854	rs267606977	7:151257699-151257699	7:151560613-151560613
5	PRKAG2	NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln)	SNV	Likely pathogenic	6855	rs267606978	7:151261232-151261232	7:151564146-151564146
6	PRKAG2	NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn)	SNV	Likely pathogenic	6849	rs28938173	7:151265836-151265836	7:151568750-151568750
7	PRKAG2	NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His)	SNV	Conflicting interpretations of pathogenicity	6853	rs267606976	7:151261289-151261289	7:151564203-151564203
8	PRKAG2	NM_016203.4(PRKAG2):c.947-7G>A	SNV	Conflicting interpretations of pathogenicity	465344	rs1554464198	7:151272042-151272042	7:151574956-151574956
9	PRKAG2	NM_016203.4(PRKAG2):c.88A>C (p.Arg30=)	SNV	Conflicting interpretations of pathogenicity	465343	rs756923555	7:151573618-151573618	7:151876533-151876533
10	PRKAG2	NM_016203.4(PRKAG2):c.432C>T (p.Pro144=)	SNV	Conflicting interpretations of pathogenicity	520278	rs764742900	7:151478272-151478272	7:151781186-151781186
11	PRKAG2	NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=)	SNV	Conflicting interpretations of pathogenicity	36696	rs148197254	7:151257695-151257695	7:151560609-151560609
12	PRKAG2	NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)	SNV	Conflicting interpretations of pathogenicity	36697	rs79474211	7:151478406-151478406	7:151781320-151781320
13	DNAAF3 , TNNI3 , TNNT1	NM_000363.5(TNNI3):c.373-10=	SNV	Conflicting interpretations of pathogenicity	36881	rs7252610	19:55665584-55665584	19:55154216-55154216
14	TNNI3	NM_000363.5(TNNI3):c.12-7del	deletion	Conflicting interpretations of pathogenicity	43361	rs370714315	19:55668683-55668683	19:55157315-55157315
15	PRKAG2	NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)	SNV	Conflicting interpretations of pathogenicity	45738	rs145029525	7:151273491-151273491	7:151576405-151576405
16	TNNI3	NM_000363.5(TNNI3):c.151-6C>G	SNV	Conflicting interpretations of pathogenicity	43363	rs377258542	19:55667706-55667706	19:55156338-55156338
17	TNNI3	NM_000363.5(TNNI3):c.273G>A (p.Ala91=)	SNV	Conflicting interpretations of pathogenicity	43372	rs75491697	19:55667578-55667578	19:55156210-55156210
18	TNNI3	NM_000363.5(TNNI3):c.373-15C>G	SNV	Conflicting interpretations of pathogenicity	43377	rs192630178	19:55665589-55665589	19:55154221-55154221
19	TNNI3	NM_000363.5(TNNI3):c.373-4C>G	SNV	Conflicting interpretations of pathogenicity	43378	rs2288530	19:55665578-55665578	19:55154210-55154210
20	DNAAF3 , TNNI3	NM_000363.5(TNNI3):c.537G>A (p.Glu179=)	SNV	Conflicting interpretations of pathogenicity	43391	rs3729841	19:55665410-55665410	19:55154042-55154042
21	PRKAG2	NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=)	SNV	Conflicting interpretations of pathogenicity	45686	rs116541276	7:151267265-151267265	7:151570179-151570179
22	PRKAG2	NM_016203.4(PRKAG2):c.1106+9G>C	SNV	Conflicting interpretations of pathogenicity	45687	rs200429988	7:151267248-151267248	7:151570162-151570162
23	PRKAG2	NM_016203.4(PRKAG2):c.111T>A (p.Ile37=)	SNV	Conflicting interpretations of pathogenicity	45688	rs144426409	7:151573595-151573595	7:151876510-151876510
24	DNAAF3 , TNNI3	NM_000363.5(TNNI3):c.204G>T (p.Arg68=)	SNV	Conflicting interpretations of pathogenicity	43366	rs3729711	19:55667647-55667647	19:55156279-55156279
25	TNNI3	NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)	SNV	Conflicting interpretations of pathogenicity	43367	rs3729712	19:55667616-55667616	19:55156248-55156248
26	PRKAG2	NM_016203.4(PRKAG2):c.123C>T (p.Ser41=)	SNV	Conflicting interpretations of pathogenicity	45692	rs397517263	7:151483619-151483619	7:151786533-151786533
27	PRKAG2	NM_016203.4(PRKAG2):c.1584+7C>T	SNV	Conflicting interpretations of pathogenicity	45699	rs111627309	7:151261157-151261157	7:151564071-151564071
28	PRKAG2	NM_016203.4(PRKAG2):c.240C>A (p.Gly80=)	SNV	Conflicting interpretations of pathogenicity	45710	rs142482217	7:151478464-151478464	7:151781378-151781378
29	PRKAG2	NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser)	SNV	Conflicting interpretations of pathogenicity	45711	rs148791216	7:151478457-151478457	7:151781371-151781371
30	PRKAG2	NM_016203.4(PRKAG2):c.312C>T (p.Thr104=)	SNV	Conflicting interpretations of pathogenicity	45713	rs397517268	7:151478392-151478392	7:151781306-151781306
31	PRKAG2	NM_016203.4(PRKAG2):c.471C>T (p.Ser157=)	SNV	Conflicting interpretations of pathogenicity	45721	rs141804012	7:151372719-151372719	7:151675633-151675633
32	PRKAG2	NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)	SNV	Conflicting interpretations of pathogenicity	45733	rs201240745	7:151329211-151329211	7:151632125-151632125
33	PRKAG2	NM_016203.4(PRKAG2):c.*2C>T	SNV	Conflicting interpretations of pathogenicity	177987	rs199559205	7:151254285-151254285	7:151557199-151557199
34	TNNI3	NM_000363.5(TNNI3):c.372+7C>T	SNV	Conflicting interpretations of pathogenicity	165519	rs367809676	19:55666102-55666102	19:55154734-55154734
35	PRKAG2	NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser)	SNV	Conflicting interpretations of pathogenicity	181465	rs730880970	7:151478502-151478502	7:151781416-151781416
36	TNNI3	NM_000363.5(TNNI3):c.*35C>T	SNV	Conflicting interpretations of pathogenicity	188677	rs375447438	19:55663167-55663167	19:55151799-55151799
37	TNNI3	NM_000363.5(TNNI3):c.-47C>T	SNV	Conflicting interpretations of pathogenicity	188667	rs202159627	19:55669004-55669004	19:55157636-55157636
38	TNNI3	NM_000363.5(TNNI3):c.-98C>A	SNV	Conflicting interpretations of pathogenicity	188666	rs12973773	19:55669055-55669055	19:55157687-55157687
39	TNNI3	NM_000363.5(TNNI3):c.139T>C (p.Leu47=)	SNV	Conflicting interpretations of pathogenicity	137685	rs587780967	19:55667982-55667982	19:55156614-55156614
40	PRKAG2	NM_016203.4(PRKAG2):c.981A>G (p.Leu327=)	SNV	Conflicting interpretations of pathogenicity	227880	rs764162597	7:151272001-151272001	7:151574915-151574915
41	DNAAF3 , TNNI3	NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=)	SNV	Conflicting interpretations of pathogenicity	257685	rs111250144	19:55670808-55670808	19:55159440-55159440
42	PRKAG2	NM_016203.4(PRKAG2):c.186+7C>T	SNV	Conflicting interpretations of pathogenicity	359350	rs886062102	7:151483549-151483549	7:151786463-151786463
43	PRKAG2	NM_016203.4(PRKAG2):c.*135T>C	SNV	Conflicting interpretations of pathogenicity	359340	rs184932311	7:151254152-151254152	7:151557066-151557066
44	PRKAG2	NM_016203.4(PRKAG2):c.429G>A (p.Ser143=)	SNV	Conflicting interpretations of pathogenicity	359346	rs757727533	7:151478275-151478275	7:151781189-151781189
45	PRKAG2	NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu)	SNV	Conflicting interpretations of pathogenicity	359348	rs757900380	7:151478456-151478456	7:151781370-151781370
46	PRKAG2	NM_016203.4(PRKAG2):c.138G>A (p.Pro46=)	SNV	Conflicting interpretations of pathogenicity	359351	rs767613486	7:151483604-151483604	7:151786518-151786518
47	PRKAG2	NM_016203.4(PRKAG2):c.*572G>A	SNV	Conflicting interpretations of pathogenicity	359334	rs78192883	7:151253715-151253715	7:151556629-151556629
48	PRKAG2	NM_016203.3(PRKAG2):c.-520C>T	SNV	Conflicting interpretations of pathogenicity	359364	rs73160072	7:151574225-151574225	7:151877140-151877140
49	PRKAG2	NM_016203.4(PRKAG2):c.-16A>G	SNV	Conflicting interpretations of pathogenicity	359352	rs200468798	7:151573721-151573721	7:151876636-151876636
50	PRKAG2	NM_016203.4(PRKAG2):c.-287C>G	SNV	Conflicting interpretations of pathogenicity	359359	rs75059373	7:151573992-151573992	7:151876907-151876907

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 6:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	PRKAG2	p.Arg302Gln	VAR_013264	rs121908987
2	PRKAG2	p.His383Arg	VAR_013266	rs121908988
3	PRKAG2	p.Thr400Asn	VAR_013267	rs28938173
4	PRKAG2	p.Asn488Ile	VAR_013268	rs121908989

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Expression for Cardiomyopathy, Familial Hypertrophic, 6

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 6.

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Pathways for Cardiomyopathy, Familial Hypertrophic, 6

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GO Terms for Cardiomyopathy, Familial Hypertrophic, 6

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	sarcomere	GO:0030017	9.43	TMOD1 LMOD2 LMOD1
2	myofibril	GO:0030016	9.33	TMOD1 LMOD2 LMOD1
3	actin filament	GO:0005884	9.26	TMOD1 RCSD1 LMOD2 LMOD1
4	striated muscle thin filament	GO:0005865	8.8	TMOD1 LMOD2 LMOD1

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	actin filament organization	GO:0007015	9.5	TMOD1 LMOD2 LMOD1
2	positive regulation of actin filament polymerization	GO:0030838	9.37	LMOD2 LMOD1
3	muscle contraction	GO:0006936	9.33	TMOD1 LMOD2 LMOD1
4	actin nucleation	GO:0045010	9.26	LMOD2 LMOD1
5	myofibril assembly	GO:0030239	9.13	TMOD1 LMOD2 LMOD1
6	pointed-end actin filament capping	GO:0051694	8.8	TMOD1 LMOD2 LMOD1

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	actin binding	GO:0003779	9.13	TMOD1 LMOD2 LMOD1
2	tropomyosin binding	GO:0005523	8.8	TMOD1 LMOD2 LMOD1

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Cardiomyopathy, Familial Hypertrophic, 6 (CMH6)

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 6

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 6:

Characteristics:

OMIM:

HPO:

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Summaries for Cardiomyopathy, Familial Hypertrophic, 6

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 6

Diseases in the Hypertrophic Cardiomyopathy family:

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Genes related to Cardiomyopathy, Familial Hypertrophic, 6 (1 elite genes):

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ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 6:

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 6:

Expression for Cardiomyopathy, Familial Hypertrophic, 6

Pathways for Cardiomyopathy, Familial Hypertrophic, 6

GO Terms for Cardiomyopathy, Familial Hypertrophic, 6

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

Sources for Cardiomyopathy, Familial Hypertrophic, 6