Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	4625
Gene name	Myosin heavy chain 7
Gene symbol	MYH7
Synonyms (NCBI Gene)	CMD1SCMH1CMYO7ACMYO7BCMYP7ACMYP7BMPD1MYHCBSPMDSPMM
Chromosome	14
Chromosome location	14q11.2
Summary	Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in norm

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SNP ID	Visualize variation	Clinical significance	Consequence
rs2069544	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant, synonymous variant
rs2754158	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs2856897	C>A,G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs3218713	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs3218714	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs3218716	C>A,G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs4981473	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs36211715	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs36211716	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, synonymous variant
rs45478699	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs45496496	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs45516091	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs45611033	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs113186231	C>G,T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs113392527	C>A,G,T	Likely-pathogenic	Splice acceptor variant
rs121913624	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913625	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913626	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913627	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913628	C>G,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121913629	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913630	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913631	G>C	Pathogenic	Missense variant, coding sequence variant
rs121913632	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913633	C>T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121913634	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs121913636	A>C	Pathogenic	Missense variant, coding sequence variant
rs121913637	G>A	Pathogenic	Missense variant, coding sequence variant
rs121913638	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913639	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913640	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913641	C>G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913642	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913643	G>A,C	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs121913644	G>A	Pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs121913645	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913646	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913651	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913653	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs138049878	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs139506719	C>T	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Coding sequence variant, synonymous variant
rs141414377	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs141735183	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs145532615	A>G	Benign, benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs148808089	G>A	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs149840927	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs192722540	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs193922387	TCT>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, inframe deletion
rs193922388	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs199552354	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs200129563	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs201012865	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201860580	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs202141173	C>T	Pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs267606908	T>C	Pathogenic	Coding sequence variant, missense variant
rs267606910	C>T	Pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs267606911	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-benign, likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs367543053	T>C	Pathogenic, uncertain-significance	Stop lost, terminator codon variant
rs369490861	G>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs371898076	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs372731424	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs376754645	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs376897125	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs377491278	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397515482	A>C	Pathogenic	Coding sequence variant, missense variant
rs397516087	A>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516088	C>A,G,T	Pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516089	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516092	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516095	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs397516097	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397516098	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs397516101	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516103	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs397516110	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516115	C>A,T	Likely-pathogenic, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs397516121	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397516122	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516123	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs397516127	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397516128	A>G	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516130	A>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516132	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516134	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516135	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516138	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs397516139	C>G,T	Likely-pathogenic, pathogenic, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs397516142	C>A,G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516149	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516150	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs397516152	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs397516153	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397516154	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516155	TCT>-	Uncertain-significance, likely-pathogenic	Inframe deletion, coding sequence variant
rs397516156	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397516157	A>C,G,T	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516160	G>A,C	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs397516161	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs397516165	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516166	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397516171	C>G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516172	CTC>-	Likely-pathogenic, pathogenic	Inframe deletion, coding sequence variant
rs397516178	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516183	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs397516209	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516212	C>A,T	Pathogenic, likely-pathogenic, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs397516224	G>-	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant
rs397516237	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516238	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs397516258	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516259	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs397516260	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516262	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs397516264	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516265	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs397516268	T>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397516269	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516272	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs564101364	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs587780395	G>A,C,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs587781089	G>A,C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant
rs587782961	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587782962	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs606231315	C>T	Likely-pathogenic	Splice acceptor variant
rs606231316	T>A	Pathogenic	Coding sequence variant, missense variant
rs606231318	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs606231319	G>T	Pathogenic	Coding sequence variant, missense variant
rs606231321	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs606231322	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs606231323	G>T	Pathogenic	Coding sequence variant, missense variant
rs606231324	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs606231328	T>C	Pathogenic	Coding sequence variant, missense variant
rs606231329	A>C	Pathogenic	Splice donor variant
rs606231331	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231332	A>C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs606231334	C>A,T	Pathogenic	Splice acceptor variant
rs606231335	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs606231337	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231340	C>T	Pathogenic	Coding sequence variant, missense variant
rs727503252	C>T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs727503253	G>A	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs727503254	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503258	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503260	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503261	A>G,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727503263	G>A	Likely-pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs727503264	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs727503265	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs727503266	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs727503269	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503271	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs727503272	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503274	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727503276	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs727503277	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503278	G>A,C,T	Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs727504236	T>C	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs727504237	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs727504238	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727504239	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504240	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727504241	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504267	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727504272	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727504273	T>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727504274	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504280	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs727504283	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504294	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727504299	G>A,C,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727504310	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727504311	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504336	AT>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant
rs727504356	C>A,G	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504409	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727504558	T>A,C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727504753	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727504925	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727505132	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs727505202	A>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880154	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880158	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880159	T>A,C,G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880160	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880161	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880731	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880733	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880734	C>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs730880736	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880741	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880742	T>A,C,G	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880743	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880745	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880747	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880748	C>G	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs730880749	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880750	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880753	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880754	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880756	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880757	C>A,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880758	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880759	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs730880760	T>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880761	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730880763	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880764	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880765	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880766	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730880768	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880769	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880773	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880826	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880832	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880833	A>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880836	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880837	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880842	T>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880843	T>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880846	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880847	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880849	A>G	Pathogenic	Coding sequence variant, missense variant
rs730880850	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs730880853	C>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880855	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880856	C>G,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880857	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880859	A>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880863	A>G	Pathogenic	Coding sequence variant, missense variant
rs730880864	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880868	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880869	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880870	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs730880872	A>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880875	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880876	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880878	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880883	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880884	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880887	CCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs730880888	GA>TT	Likely-pathogenic	Coding sequence variant, missense variant
rs730880894	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880895	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880896	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880898	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880901	T>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880902	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880903	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730880920	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880921	G>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880922	A>C	Likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880927	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880929	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880930	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs758891557	T>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs760187215	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs765279420	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs765458590	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs772488436	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs863224900	A>C,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225095	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225097	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs863225098	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225099	CCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs863225100	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225101	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs863225102	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225103	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs868789318	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs869025477	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs876657887	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs878853842	G>T	Pathogenic	Coding sequence variant, missense variant
rs886038901	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs886039030	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs886039185	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886039204	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs934278063	A>C,G	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1057517771	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517773	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1057519221	C>T	Likely-pathogenic	Splice acceptor variant
rs1057520814	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524857	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1060501432	A>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1060501436	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1060501439	T>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1060501443	A>G	Pathogenic	Missense variant, coding sequence variant
rs1060501448	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1060501452	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1060505018	C>A,G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1064793206	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796729	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797184	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1085307959	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691514	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1131691562	T>C	Pathogenic	Missense variant, coding sequence variant
rs1131691577	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691685	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1173617248	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1224554825	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1427104281	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1555337794	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555337846	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555337916	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555338080	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555338254	CCT>-	Uncertain-significance, likely-pathogenic	Inframe deletion, coding sequence variant
rs1555338578	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555338658	A>C	Uncertain-significance, likely-pathogenic	Splice donor variant
rs1566530698	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1566531303	A>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1566531421	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1566533919	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566535410	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1566536418	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1566536436	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1566537070	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1595081779	CCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1595084560	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1595084583	G>T	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000146	Function	Microfilament motor activity	IDA	15621050
GO:0000146	Function	Microfilament motor activity	IMP	16088376
GO:0000146	Function	Microfilament motor activity	NAS	3021460
GO:0000166	Function	Nucleotide binding	IEA
GO:0001725	Component	Stress fiber	IEA
GO:0002026	Process	Regulation of the force of heart contraction	IDA	15621050
GO:0002027	Process	Regulation of heart rate	IDA	15621050
GO:0003009	Process	Skeletal muscle contraction	IMP	7883988
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	17192269, 20847312, 25416956, 32296183
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005859	Component	Muscle myosin complex	TAS	2249844, 3021460
GO:0006936	Process	Muscle contraction	IDA	15621050
GO:0006936	Process	Muscle contraction	TAS	15856146
GO:0006941	Process	Striated muscle contraction	IDA	15621050
GO:0007512	Process	Adult heart development	IBA
GO:0007512	Process	Adult heart development	IMP	15856146
GO:0014728	Process	Regulation of the force of skeletal muscle contraction	IMP	7883988
GO:0014883	Process	Transition between fast and slow fiber	IEA
GO:0014898	Process	Cardiac muscle hypertrophy in response to stress	IEA
GO:0016459	Component	Myosin complex	IEA
GO:0016459	Component	Myosin complex	TAS	12933792
GO:0016460	Component	Myosin II complex	IBA
GO:0016460	Component	Myosin II complex	IEA
GO:0030016	Component	Myofibril	IEA
GO:0030016	Component	Myofibril	ISS
GO:0030017	Component	Sarcomere	IEA
GO:0030017	Component	Sarcomere	ISS
GO:0030017	Component	Sarcomere	TAS	16754800
GO:0030018	Component	Z disc	IEA
GO:0030049	Process	Muscle filament sliding	IBA
GO:0030049	Process	Muscle filament sliding	IMP	8514894, 16088376
GO:0031449	Process	Regulation of slow-twitch skeletal muscle fiber contraction	IMP	7883988
GO:0032982	Component	Myosin filament	IBA
GO:0032982	Component	Myosin filament	IDA	19336582
GO:0032982	Component	Myosin filament	IEA
GO:0046034	Process	ATP metabolic process	IDA	15621050
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	15856146, 16754800
GO:0060048	Process	Cardiac muscle contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IMP	7883988
GO:0099512	Component	Supramolecular fiber	IEA

MIM	HGNC	e!Ensembl
160760	7577	ENSG00000092054

P12883

Protein name

Myosin-7 (Myosin heavy chain 7) (Myosin heavy chain slow isoform) (MyHC-slow) (Myosin heavy chain, cardiac muscle beta isoform) (MyHC-beta)

Protein function

Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac mu

PDB

2FXM , 2FXO , 3DTP , 4DB1 , 4P7H , 4PA0 , 4XA1 , 4XA3 , 4XA4 , 4XA6 , 5CHX , 5CJ0 , 5CJ1 , 5CJ4 , 5TBY , 5WJ7 , 5WJB , 5WLQ , 5WLZ , 5WME , 6PF2 , 6PFP , 8ACT , 8EFD , 8EFE , 8EFH , 8EFI , 8ENC , 8G4L , 8ZB7 , 8ZI9 , 9GZ1 , 9GZ2 , 9GZ3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02736	Myosin_N	34 → 73	Myosin N-terminal SH3-like domain	Domain
PF00063	Myosin_head	87 → 766	Myosin head (motor domain)	Domain
PF01576	Myosin_tail_1	843 → 1924	Myosin tail	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Both wild type and variant Gln-403 are detected in skeletal muscle (at protein level). {ECO:0000269|PubMed:8514894}.

Sequence

MGDSEMAVFGAAAPYLRKSEKERLEAQTRPFDLKKDVFVPDDKQEFVKAKIVSREGGKVT
AETEYGKTVTVKEDQVMQQNPPKFDKIEDMAMLTFLHEPAVLYNLKDRYGSWMIYTYSGL
FCVTVNPYKWLPVYTPEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGES
GAGKTVNTKRVIQYFAVIAAIGDRSKKDQSPGKGTLEDQIIQANPALEAFGNAKTVRNDN
SSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERDYHIFYQILSNKKPELLDM
LLITNNPYDYAFISQGETTVASIDDAEELMATDNAFDVLGFTSEEKNSMYKLTGAIMHFG
NMKFKLKQREEQAEPDGTEEADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQNVQQV
IYATGALAKAVYERMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINF
TNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMF
PKATDMTFKAKLFDNHLGKSANFQKPRNIKGKPEAHFSLIHYAGIVDYNIIGWLQKNKDP
LNETVVGLYQKSSLKLLSTLFANYAGADAPIEKGKGKAKKGSSFQTVSALHRENLNKLMT
NLRSTHPHFVRCIIPNETKSPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQ
RYRILNPAAIPEGQFIDSRKGAEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDER
LSRIITRIQAQSRGVLARMEYKKLLERRDSLLVIQWNIRAFMGVKNWPWMKLYFKIKPLL
KSAEREKEMASMKEEFTRLKEALEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNLAD
AEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKRDIDDLELT
LAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQAEEDKVNTL
TKAKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKQQLDERL
KKKDFELNALNARIEDEQALGSQLQKKLKELQARIEELEEELEAERTARAKVEKLRSDLS
RELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHADSV
AELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKMCRTLEDQMNEHR
SKAEETQRSVNDLTSQRAKLQTENGELSRQLDEKEALISQLTRGKLTYTQQLEDLKRQLE
EEVKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETDAI
QRTEELEEAKKKLAQRLQEAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAA
ALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETFKR
ENKNLQEEISDLTEQLGSSGKTIHELEKVRKQLEAEKMELQSALEEAEASLEHEEGKILR
AQLEFNQIKAEIERKLAEKDEEMEQAKRNHLRVVDSLQTSLDAETRSRNEALRVKKKMEG
DLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRNNL
LQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMDADLSQLQTE
VEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEA
EQIALKGGKKQLQKLEARVRELENELEAEQKRNAESVKGMRKSERRIKELTYQTEEDRKN
LLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVNKL
RAKSRDIGTKGLNEE

Sequence length

1935

Interactions

View interactions

9121

Show/Hide Causal Diseases (31)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs121913648	RCV001814087
Arrhythmogenic cardiomyopathy	Likely pathogenic; Pathogenic	rs1282663873, rs36211715	RCV001732159 RCV001731289
Asymmetric septal hypertrophy	Pathogenic	rs193922390	RCV001251032
Biventricular noncompaction cardiomyopathy	Likely pathogenic	rs1892625481	RCV001263484
Cardiomyopathy	Likely pathogenic; Pathogenic	rs1422611896, rs397516165, rs587782962, rs138049878, rs376897125, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs202141173, rs2754158, rs727504310 View all (62 more)	RCV001799443 RCV001799449 RCV003149914 RCV001189961 RCV003531969 RCV001189962 RCV003149921 RCV001170510 RCV000770500 RCV000770475 RCV000772181 RCV001798472 RCV001189960 RCV001524491 RCV001798497 RCV003149920 RCV001170280 RCV003531980 RCV000770495 RCV001798475 RCV001798536 RCV001192691 RCV003317105 RCV001170739 RCV003487037 RCV001798726 RCV001170271 RCV001191924 RCV001170277 RCV001798006 RCV000853263 RCV001170514 RCV001170509 RCV001525146 RCV000770489 RCV000770487 RCV001186219 RCV001177579 RCV001170499 RCV001170740 RCV001170501 RCV001170502 RCV003486546 RCV002468970 RCV001804733 RCV001170512 RCV001181317 RCV004018058 RCV001267673 RCV001170487 RCV000769462 RCV001798093 RCV001804758 RCV003149621 RCV001170504 RCV001170503 RCV001193366 RCV001170500 RCV001798097 RCV001170269 RCV000769455 RCV001798098 RCV001188088 RCV001190251 RCV001171198 RCV003149622 RCV001185537 RCV000770479 RCV003149623 RCV001171222 RCV003149624 RCV001170747 RCV001170746 RCV000852457 RCV001170745 RCV000769465 RCV005402956 RCV001798968 RCV001191955 RCV001170278 RCV001265600
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1241603111, rs1422611896, rs730880748, rs587782962, rs138049878, rs376897125, rs727504356, rs727504311, rs121913632, rs727503261, rs727504238, rs148808089, rs727503271, rs727503276, rs727504283 View all (95 more)	RCV005405579 RCV002359259 RCV002458640 RCV000621026 RCV002433640 RCV002381459 RCV000622129 RCV004984688 RCV000619837 RCV000621605 RCV002408684 RCV000622007 RCV002345472 RCV002381471 RCV002354363 RCV000617211 RCV000619582 RCV004019817 RCV000622071 RCV002426717 RCV002426734 RCV002453490 RCV000622211 RCV000621337 RCV002415654 RCV000618360 RCV000620591 RCV002415653 RCV002408697 RCV005400707 RCV002390343 RCV005443023 RCV002326865 RCV002433704 RCV002433700 RCV005404291 RCV002426779 RCV004984703 RCV002444656 RCV004984707 RCV000622058 RCV000619862 RCV000251987 RCV002444659 RCV000620575 RCV002368633 RCV002421604 RCV002432457 RCV000621369 RCV004984710 RCV005672339 RCV002415859 RCV000241907 RCV002378957 RCV000249009 RCV000254190 RCV002446499 RCV004985330 RCV002345242 RCV000617265 RCV000618958 RCV002408465 RCV000252267 RCV000252292 RCV000253053 RCV000247943 RCV000621362 RCV002399324 RCV002345243 RCV000621657 RCV000241836 RCV000250394 RCV002399325 RCV002345244 RCV002390109 RCV000250089 RCV000617405 RCV003298034 RCV004523016 RCV004523024 RCV002402248 RCV004023097 RCV000586653 RCV002438278 RCV000621002 RCV000621839 RCV005400730 RCV000620233 RCV000587847 RCV002362622 RCV004984655 RCV002381294 RCV000617592 RCV000242011 RCV000620403 RCV000253409 RCV000243586 RCV000248308 RCV002426554 RCV002453297 RCV004018774 RCV000242919 RCV000620255 RCV000242427 RCV002321503 RCV000244617 RCV004639126 RCV000617360 RCV000619392 RCV004984656 RCV002326727 RCV002326728 RCV002354191 RCV000252658 RCV000622036 RCV002415464 RCV004985021 RCV004649274 RCV005672458 RCV002386201 RCV002388413 RCV004986594 RCV004986629 RCV005672562 RCV002418658 RCV002429971
Chest pain	Pathogenic	rs36211715	RCV000626634
Congenital myopathy	Likely pathogenic; Pathogenic	rs1595070689	RCV000855671
Congenital myopathy with fiber type disproportion	Likely pathogenic; Pathogenic	rs2754158, rs727503263, rs1060505018, rs1566521710, rs1247313340, rs397516127	RCV001198295 RCV001197245 RCV001197233 RCV001199131 RCV001198111 RCV001196247
Dilated cardiomyopathy 1S	Likely pathogenic; Pathogenic	rs2138683978, rs606231334, rs606231324, rs587779396, rs587782962, rs2138681961, rs2138668970, rs1374980600, rs376897125, rs727503261, rs148808089, rs727503246, rs397516171, rs727503253, rs202141173 View all (30 more)	RCV001729993 RCV001253399 RCV000578453 RCV000132758 RCV005411348 RCV002267198 RCV002291140 RCV002291237 RCV005003491 RCV001594383 RCV004813062 RCV005409624 RCV003147346 RCV000240635 RCV004819221 RCV003333029 RCV001262906 RCV003320136 RCV003455828 RCV003147290 RCV001594372 RCV000015164 RCV000015165 RCV004595882 RCV002054442 RCV004799177 RCV000491937 RCV005003421 RCV000477919 RCV001253340 RCV001251000 RCV001262905 RCV002251732 RCV004819211 RCV003333012 RCV000132760 RCV003335067 RCV003147324 RCV001823103 RCV003333017 RCV000660462 RCV000824807 RCV000984900 RCV000995813 RCV001249764
Familial cardiomyopathy	Likely pathogenic; Pathogenic	rs606231340, rs606231335, rs606231334, rs606231332, rs606231331, rs606231329, rs606231324, rs606231323, rs606231321, rs606231319, rs606231318, rs606231316, rs606231315, rs397516154	RCV000148955 RCV000148961 RCV000148963 RCV000148965 RCV000148966 RCV000148969 RCV000148974 RCV000148975 RCV000148977 RCV000148979 RCV000148980 RCV000148982 RCV000148983 RCV000148956
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs730880920, rs769484001, rs397516246, rs1241603111, rs1282663873, rs2138642164, rs730880850, rs1422611896, rs397516165, rs36211715, rs1373092362, rs606231324, rs730880748, rs2138642157, rs2138644623 View all (205 more)	RCV001326601 RCV005094406 RCV001370500 RCV001362627 RCV001378368 RCV001389062 RCV001383488 RCV003586315 RCV005095170 RCV001979696 RCV002013492 RCV000466357 RCV002041351 RCV001998694 RCV001882352 RCV002047963 RCV001998241 RCV001899529 RCV002049842 RCV001872919 RCV001998892 RCV001880950 RCV001935359 RCV001978187 RCV002021031 RCV001909336 RCV000459843 RCV001348438 RCV000529602 RCV000758035 RCV000549661 RCV000475271 RCV000461430 RCV000678722 RCV000471476 RCV000811264 RCV000226806 RCV000464365 RCV000792549 RCV000154595 RCV000599626 RCV000706637 RCV000232679 RCV000461192 RCV000695329 RCV000527742 RCV000685493 RCV000458948 RCV000457606 RCV000758036 RCV000151268 RCV000151276 RCV000469589 RCV000628970 RCV000461116 RCV000628842 RCV000557354 RCV000154203 RCV000204606 RCV000151296 RCV001219303 RCV000154253 RCV000197008 RCV001384951 RCV001306502 RCV000549326 RCV000768487 RCV000853471 RCV000802005 RCV001850226 RCV002516385 RCV000820326 RCV003586154 RCV001226065 RCV000803464 RCV000702206 RCV000792651 RCV001321694 RCV000213209 RCV003750230 RCV000697577 RCV000703741 RCV002516390 RCV002516388 RCV000225905 RCV003994440 RCV000815744 RCV003062620 RCV000526457 RCV000551132 RCV003072404 RCV002585502 RCV002642377 RCV002751060 RCV002810074 RCV002872266 RCV003586165 RCV003586167 RCV001209616 RCV001853227 RCV003048802 RCV000205072 RCV000689327 RCV000808835 RCV000818531 RCV000231604 RCV000628874 RCV000477389 RCV000498052 RCV003586409 RCV005100112 RCV003586534 RCV003586646 RCV003586562 RCV003587421 RCV003587424 RCV000199447 RCV000229956 RCV000230258 RCV000471604 RCV000473084 RCV000197762 RCV001618212 RCV000462477 RCV000458449 RCV000472342 RCV000693916 RCV003586124 RCV001381369 RCV000456661 RCV000758071 RCV000233499 RCV001851866 RCV000468000 RCV000688025 RCV001213330 RCV000804244 RCV000546277 RCV000539828 RCV000233703 RCV001207190 RCV000204929 RCV000469895 RCV000477002 RCV001618214 RCV003587925 RCV003748569 RCV003749197 RCV003749225 RCV003749353 RCV003749461 RCV003749811 RCV003750096 RCV003750233 RCV003747713 RCV001346159 RCV001381453 RCV000473533 RCV000466153 RCV000461645 RCV000475248 RCV000472981 RCV000477668 RCV002524033 RCV001218080 RCV002525108 RCV000199234 RCV000531350 RCV000529995 RCV000528941 RCV000536229 RCV000531843 RCV000533348 RCV001854146 RCV000614191 RCV001384952 RCV000808337 RCV000470458 RCV000544985 RCV000465369 RCV000697579 RCV000195545 RCV000477379 RCV000795739 RCV000229519 RCV000459608 RCV000168409 RCV000628958 RCV000035765 RCV000227196 RCV000461730 RCV001852728 RCV001221142 RCV001317561 RCV000168354 RCV000035803 RCV000557637 RCV000628861 RCV000198644 RCV000550238 RCV000035818 RCV000035825 RCV000035826 RCV000707732 RCV000629019 RCV000475413 RCV001059046 RCV000552931 RCV000629005 RCV000758078 RCV000200190 RCV000477095 RCV000035907 RCV000035949 RCV000699484 RCV002513365 RCV001054799 RCV000543200 RCV000811971 RCV000628940 RCV000629000 RCV000758021 RCV000628976 RCV000628947 RCV000629014 RCV000628910 RCV000628857 RCV000707167 RCV000695003 RCV000705771 RCV000700152 RCV000696909 RCV000693858 RCV000697662 RCV000692213 RCV000768486 RCV000768485 RCV000768484 RCV000768483 RCV000768482 RCV002535791 RCV000813403 RCV000812647 RCV000813669 RCV000805227 RCV000816205 RCV000812316 RCV000794945 RCV002538879 RCV001036718 RCV001055219 RCV001050852 RCV001043872 RCV001039334 RCV001053195 RCV005056879 RCV001349517 RCV001208793 RCV001228124 RCV001230053 RCV001235235 RCV001263484 RCV001305598 RCV001297502
Hypertrophic cardiomyopathy 1	Likely pathogenic; Pathogenic	rs1060501439, rs397516107, rs1892745662, rs1333791654, rs606231340, rs606231324, rs727505294, rs587782962, rs1555338319, rs138049878, rs376897125, rs727504356, rs121913632, rs727503261, rs727504238 View all (94 more)	RCV001808158 RCV001808252 RCV001808847 RCV001808857 RCV001781460 RCV003883132 RCV002052148 RCV005411348 RCV002250998 RCV001261972 RCV000201440 RCV003314568 RCV002466449 RCV000151279 RCV000172889 RCV002051819 RCV006249597 RCV001808414 RCV003147350 RCV001537865 RCV000709745 RCV000201448 RCV000168873 RCV000578019 RCV000786922 RCV001258093 RCV005054160 RCV005867949 RCV003313940 RCV002251737 RCV005646871 RCV003313941 RCV005054170 RCV000201447 RCV005054169 RCV001808430 RCV002466453 RCV004771465 RCV002470620 RCV002466812 RCV005869883 RCV003320136 RCV000201507 RCV000201493 RCV000201480 RCV000201464 RCV000201487 RCV000201501 RCV000201463 RCV004786613 RCV006257287 RCV004786639 RCV003485925 RCV003485926 RCV003323325 RCV003323326 RCV003324112 RCV003455829 RCV000015143 RCV000015144 RCV000015145 RCV000015146 RCV000015147 RCV000015148 RCV000015149 RCV000015151 RCV000015153 RCV000015154 RCV000015155 RCV000015156 RCV000015157 RCV000015158 RCV000015159 RCV000015160 RCV000015161 RCV000015162 RCV000015163 RCV000015175 RCV000015176 RCV000015177 RCV000015182 RCV000015184 RCV000015185 RCV001542486 RCV000015190 RCV003986025 RCV004017185 RCV004577126 RCV004593552 RCV002051852 RCV002466513 RCV005869514 RCV000995812 RCV004787838 RCV003313930 RCV000201462 RCV001258094 RCV000201470 RCV000709746 RCV005246601 RCV000162333 RCV000201494 RCV000201461 RCV005411307 RCV000201446 RCV001723607 RCV000162341 RCV001258092 RCV001807755 RCV000162337 RCV003333014 RCV005867815 RCV000168835 RCV001256696 RCV005007938 RCV000162339 RCV003333019 RCV000201434 RCV002289917 RCV000678977 RCV003447556 RCV000989192 RCV000989190 RCV005866844
Left ventricular noncompaction	Likely pathogenic; Pathogenic	rs727503269, rs730880856, rs730880850, rs1555338658, rs397516089	RCV000151296 RCV000219555 RCV000214568 RCV000678820 RCV000035698
Left ventricular noncompaction 5	Likely pathogenic; Pathogenic	rs121913654, rs730880850, rs397515482, rs138110910	RCV000015183 RCV000015188 RCV000056316 RCV000056317
Left ventricular noncompaction cardiomyopathy	Likely pathogenic; Pathogenic	rs606231324, rs587782961, rs730880863, rs121913628, rs730880850, rs397516248, rs727503266, rs397515482	RCV000157356 RCV000143920 RCV002208730 RCV002054441 RCV001256089 RCV000207999 RCV000853170 RCV002054899
MYH7-related cardiomyopathy	Likely pathogenic; Pathogenic	rs730880736	RCV005625345
MYH7-related disorder	Likely pathogenic; Pathogenic	rs2138672565, rs138049878, rs397516171, rs202141173, rs727504236, rs730880750, rs121913624, rs121913625, rs121913627, rs121913628, rs121913650, rs36211715, rs1064792935, rs397516089, rs371898076 View all (5 more)	RCV004545828 RCV004757135 RCV004532676 RCV004757139 RCV004545874 RCV004545751 RCV004532355 RCV004532356 RCV004545730 RCV004532357 RCV004532358 RCV004757109 RCV004539944 RCV004545737 RCV004534737 RCV004534738 RCV004528169 RCV004528172 RCV004527813 RCV004527812
MYH7-related skeletal myopathy	Likely pathogenic; Pathogenic	rs730880806, rs606231324, rs587779414, rs587779390, rs587779391, rs587779392, rs587779393, rs367543052, rs587779396, rs587779415, rs587782962, rs2138638795, rs376897125, rs397516171, rs202141173 View all (19 more)	RCV001807701 RCV003883132 RCV000132747 RCV000132750 RCV000132751 RCV000132752 RCV000132754 RCV000132757 RCV000132758 RCV000132761 RCV005411348 RCV002249106 RCV005003491 RCV003147349 RCV004819221 RCV003333030 RCV000192202 RCV003320136 RCV003456315 RCV003147293 RCV000192201 RCV002247341 RCV005007852 RCV005003421 RCV000477919 RCV004819211 RCV003333013 RCV000132759 RCV000132760 RCV003147327 RCV005007938 RCV003333018 RCV000681617 RCV001807650
Myocarditis	Likely pathogenic	rs1892948780	RCV002067719
Myopathy	Likely pathogenic; Pathogenic	rs2754158	RCV000415053
Myopathy, myosin storage, autosomal recessive	Likely pathogenic; Pathogenic	rs606231324, rs587782962, rs376897125, rs397516171, rs202141173, rs2754158, rs730880805, rs2502251571, rs121913627, rs121913650, rs267606911, rs397516127, rs371898076, rs397516201, rs145213771, rs397516260, rs45516091, rs397516266 View all (3 more)	RCV003883132 RCV005411348 RCV005003491 RCV003147351 RCV004819221 RCV003333031 RCV003228795 RCV003456316 RCV003147294 RCV003151728 RCV005007852 RCV005003421 RCV000477919 RCV004819211 RCV003333015 RCV003147328 RCV005007938 RCV003333020
Myosin storage myopathy	Likely pathogenic; Pathogenic	rs606231324, rs587779393, rs587782962, rs376897125, rs148808089, rs397516171, rs202141173, rs2754158, rs730880809, rs863224900, rs1892079951, rs2502241547, rs121913627, rs121913649, rs121913654 View all (13 more)	RCV003883132 RCV003320105 RCV005411348 RCV005003491 RCV004813062 RCV003320108 RCV004819221 RCV003333032 RCV004586591 RCV003320136 RCV003320279 RCV003320280 RCV003320032 RCV003320034 RCV003320035 RCV005007852 RCV004587628 RCV004820826 RCV003320043 RCV005859478 RCV005003421 RCV000477919 RCV004819211 RCV003333016 RCV003320085 RCV003320092 RCV005007938 RCV003333021 RCV003320244
Neuromuscular disease	Likely pathogenic	rs397516248	RCV000211834
Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)	Likely pathogenic	rs587779392	RCV002515923
Primary dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs769484001, rs606231324, rs45544633, rs727503253, rs727503258, rs869025483, rs121913625, rs121913629, rs121913642, rs1060501443, rs1555338080, rs1555338574, rs397516089, rs397516123, rs397516142 View all (10 more)	RCV001328489 RCV001281475 RCV000151238 RCV000208124 RCV000151274 RCV000208262 RCV001375645 RCV003996097 RCV000211832 RCV004017627 RCV000599995 RCV004017695 RCV000035698 RCV000035749 RCV000035784 RCV000208309 RCV004806024 RCV000211834 RCV000035978 RCV000035983 RCV000035988 RCV000157351 RCV004002764 RCV000855671 RCV002067719
Primary familial dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs397516165, rs397516258	RCV000845382 RCV005055539
Primary familial hypertrophic cardiomyopathy	Pathogenic; Likely pathogenic	rs587782962, rs138049878, rs376897125, rs727504356, rs727504311, rs202141173, rs727504310, rs727503260, rs727504239, rs727503278, rs730880159, rs727505202, rs876657884, rs121913624, rs121913625 View all (24 more)	RCV000143923 RCV000148707 RCV000148711 RCV004800298 RCV000770756 RCV000845415 RCV001194066 RCV005888354 RCV003479022 RCV000845365 RCV000157355 RCV006255163 RCV003401157 RCV000035708 RCV000035717 RCV000035750 RCV000035772 RCV000035820 RCV001194067 RCV003319168 RCV000157361 RCV000035817 RCV000030320 RCV000624861 RCV000845295 RCV003478982 RCV000035743 RCV000157358 RCV000035758 RCV000035771 RCV000157360 RCV000143922 RCV000845298 RCV003485529 RCV000208315 RCV000035887 RCV000148697 RCV003317057 RCV000157348 RCV000035995
Restrictive cardiomyopathy	Likely pathogenic; Pathogenic	rs727503260, rs727503269, rs397516153	RCV000151276 RCV000151296 RCV000758065
See cases	Pathogenic; Likely pathogenic	rs587782962, rs121913632, rs45516091	RCV005886953 RCV005888986 RCV001265607
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1555338658	RCV005901219

Show/Hide Unknown Diseases (44)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal morphology of left ventricular trabeculae	Uncertain significance	rs1566522989	RCV000754866
Adrenocortical carcinoma, hereditary	Benign	rs735712	RCV005888982
Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance	rs558673680, rs373514686	RCV000852454 RCV000852453
Arrhythmogenic right ventricular dysplasia 9	Conflicting classifications of pathogenicity	rs1114167342	RCV000491510
Atrial fibrillation	Uncertain significance	rs1566522989	RCV000754866
Atrial flutter	Uncertain significance	rs1566522989	RCV000754866
Autosomal dominant MYH7-related disorder	Uncertain significance	rs587779389	RCV000984933
Cardiac arrhythmia	Uncertain significance	rs1057518877	RCV000415451
Cardiomyopathy, hypertrophic, midventricular, digenic	Uncertain significance	rs397516139	RCV000015166
Cholangiocarcinoma	Benign	rs735712	RCV005888985
Colorectal cancer	Benign	rs735712	RCV005888983
Conduction disorder of the heart	Uncertain significance	rs1595073523, rs1892239000	RCV000845472 RCV001256693
Dilated cardiomyopathy 1A	Uncertain significance	rs757090529	RCV001256697
Dilated cardiomyopathy 1R	Uncertain significance	rs397516113	RCV005867814
Dilated Cardiomyopathy, Dominant	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	rs529700838, rs369490861, rs572672362, rs397516253, rs730880824, rs554560162, rs373145667, rs45548631, rs574005462, rs745414245, rs765068619, rs186276057, rs200550717, rs150241539, rs578166720 View all (55 more)	RCV000265099 RCV000291272 RCV000275351 RCV000344866 RCV000329194 RCV000294051 RCV000272990 RCV000293561 RCV000368928 RCV000384692 RCV000296529 RCV000321189 RCV000360393 RCV000346623 RCV000318017 RCV000302577 RCV000302884 RCV000321468 RCV000399317 RCV000371330 RCV000324458 RCV000349153 RCV000289515 RCV000271056 RCV000350729 RCV000324562 RCV000385187 RCV000340776 RCV000320862 RCV000319627 RCV000373332 RCV000281839 RCV000407413 RCV000264432 RCV000274414 RCV000346304 RCV000310759 RCV000323421 RCV000309106 RCV000395746 RCV000398355 RCV000321950 RCV000399496 RCV000389702 RCV000329444 RCV000352455 RCV000338654 RCV000264496 RCV000308026 RCV000332160 RCV000352353 RCV000286205 RCV000357420 RCV000374258 RCV000308973 RCV000385477 RCV000376212 RCV000263139 RCV000284335 RCV000388586 RCV000350069 RCV000310680 RCV000277849 RCV000390599 RCV000353891 RCV000344972 RCV000348305 RCV000361493 RCV000385660 RCV000299162
Dyspnea	Conflicting classifications of pathogenicity	rs727505026	RCV000414966
Ebstein anomaly	Uncertain significance	rs397516190	RCV000487455
Familial isolated arrhythmogenic right ventricular dysplasia	Conflicting classifications of pathogenicity	rs780625785	RCV003106148
First degree atrioventricular block	Uncertain significance	rs750987717	RCV000208040
Heart failure	Uncertain significance	rs907992794	RCV005225152
Hyaline body myopathy	Conflicting classifications of pathogenicity; Uncertain significance	rs28933098, rs397516103	RCV004017246 RCV000679804
Hypertrophic cardiomyopathy 2	Likely benign	rs1892384621	RCV004596611
Hypertrophic cardiomyopathy 4	Conflicting classifications of pathogenicity	rs1892066954	RCV001265622
Hypotonia	Conflicting classifications of pathogenicity	rs1555335933	RCV000626635
Idiopathic camptocormia	Uncertain significance	rs200939753	RCV000186557
Increased left ventricular wall thickness	Benign	rs145532615	RCV000148698
Left ventricular hypertrophy	Conflicting classifications of pathogenicity	rs1060501439	RCV000758564
Left ventricular noncompaction 1	Conflicting classifications of pathogenicity	rs28933098	RCV005862717
Limb-girdle muscular dystrophy	Uncertain significance	rs397516261	RCV005624724
Long QT syndrome	Uncertain significance	rs907483085, rs2502262161, rs397516195	RCV003318435 RCV003318455 RCV003318340
Nonpapillary renal cell carcinoma	Benign	rs735712	RCV005888981
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs3729826	RCV005916537
Pericarditis	Uncertain significance	rs763791649	RCV003994662
Polymorphic ventricular tachycardia	Uncertain significance	rs876657885	RCV004595495
Prolonged QT interval	Uncertain significance	rs760218400	RCV000497639
Scapuloperoneal myopathy	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs373145667, rs45548631, rs745414245, rs765068619, rs200550717, rs886050418, rs886050424, rs886050415, rs753137666, rs781192476, rs886050425, rs879196018, rs142094404, rs36211716, rs138294643	RCV000322984 RCV000319900 RCV000390901 RCV000372281 RCV000316393 RCV000360417 RCV000358356 RCV000269554 RCV000351443 RCV000330994 RCV000318746 RCV000289747 RCV000341222 RCV000283423 RCV000372940
Sudden cardiac death	Uncertain significance	rs202031879	RCV000208113
Sudden unexplained death	Uncertain significance	rs745414245, rs566368210	RCV000201892 RCV005054214
Tachycardia	Uncertain significance	rs1566522989	RCV000754866
Uterine carcinosarcoma	Benign	rs735712	RCV005888984
Ventricular fibrillation	Likely benign	rs141764279, rs141122361	RCV000852700 RCV000853439
Ventricular fibrillation, paroxysmal familial, type 1	Benign	rs45504498	RCV000143924
Ventricular tachycardia	Conflicting classifications of pathogenicity	rs868789318	RCV000853420
Wolff-Parkinson-White pattern	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs267606910, rs767300277, rs3218716, rs201307101	RCV000656213 RCV000656224 RCV000656214 RCV000656145

Show/Hide Text Mining Associations (106)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35769670
Aortic Valve Stenosis	Associate	20124440
Apical Hypertrophic Cardiomyopathy	Associate	18383048, 19293840, 20433692, 24594054, 29101517, 29743414, 33099311, 33636496, 34067482, 37019277
Arrhythmias Cardiac	Associate	20359594, 36007715
Arrhythmogenic Right Ventricular Dysplasia	Associate	34067482, 36136372, 37949661
Atrial Fibrillation	Associate	15528230, 24093860, 30061737, 30371277, 34495297
Atrial Fibrillation	Stimulate	33297970
Autistic Disorder	Associate	37322441
Axial osteomalacia	Associate	23478172
Blood Protein Disorders	Associate	35893073
Bohring syndrome	Associate	32969603
Brugada Syndrome	Associate	36303204
Camptocormia	Associate	27387980
Carcinoma Non Small Cell Lung	Inhibit	36341395
Cardiomegaly	Associate	18403758, 22765922
Cardiomyopathies	Associate	15322983, 15528230, 18403758, 20124440, 20458009, 22194935, 22763267, 23074333, 23478172, 24664454, 25935763, 27387980, 28815794, 28927399, 29300372 View all (21 more)
Cardiomyopathy Dilated	Associate	16103042, 19293840, 19854198, 20124440, 20201937, 21750094, 22464770, 22763267, 24119082, 26458567, 30150400, 30650640, 30947911, 31983221, 32160020 View all (12 more)
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	15528230, 29447731, 30371277, 30947911, 34853230, 35893073, 36292635, 37565978
Cardiomyopathy Hypertrophic	Associate	10424815, 10662815, 11214007, 12084606, 15358028, 17612745, 18258667, 18365899, 19645038, 19808356, 19880069, 19913502, 20359594, 20433692, 20615414 View all (102 more)
Cardiomyopathy Hypertrophic Familial	Associate	10424815, 10662815, 11214007, 15528230, 15858117, 16103042, 19645038, 21769673, 22112859, 22857948, 24298987, 24963656, 26337809, 28498465, 31638223, 31960626, 37744343, 38538344 View all (3 more)
Cleft Palate	Associate	37967257
Clubfoot	Associate	20357587
Congenital Abnormalities	Associate	35885957
Contracture	Associate	20357587
Cryptorchidism	Inhibit	22906643
Death	Associate	20641121, 30371277
Death Sudden	Associate	12084606, 18383048, 24119082, 24298987, 25935763, 29743414, 36948619
Death Sudden Cardiac	Associate	15358028, 17612745, 19880069, 20359594, 26199943, 27247418, 28296734, 31856055, 33302605, 37787257
Death Sudden Cardiac	Stimulate	37284852
Diabetes Mellitus	Associate	25608533, 33484326
Disease	Associate	8483915
Distal Myopathies	Associate	15322983, 16103042, 19797833, 19854198, 23478172, 24664454, 26094647, 27005958, 27387980, 28927399, 30166250, 32607476, 33298082, 7847377
Distal myopathy Nonaka type	Stimulate	16103042
Double Outlet Right Ventricle	Associate	37322441
Dropped Head Syndrome	Associate	27387980
Dyspnea	Associate	31305444
Epilepsy	Associate	33484326
Fabry Disease	Associate	31308319
familial dilated cardiomyopathy	Associate	19412328, 24664454, 26199943, 27161364
Fasciculation	Associate	24664454, 31068177
Fibrosis	Associate	36802920
Genetic Diseases Inborn	Associate	30650640
Genetic Predisposition to Disease	Associate	37246080
Head and Neck Neoplasms	Associate	16103042, 30166250
Hearing Loss Sensorineural	Associate	33484326
Heart Defects Congenital	Associate	35885957
Heart Diseases	Associate	19854198, 24664454, 29743414, 31813281, 33297970, 36140722, 36292635, 36902340, 8483915
Heart Failure	Associate	20124440, 24119082, 26199943, 28855170, 36007715, 36140722, 36948619, 38538344
Heart Septal Defects Atrial	Associate	18159245
Heart Septal Defects Ventricular	Associate	23117287
Heat Stress Disorders	Associate	39457051
Hereditary Myopathy with Early Respiratory Failure	Associate	36539320
Heredodegenerative Disorders Nervous System	Associate	34103343
Hernia Hiatal	Associate	31305444
Hydrocephalus	Associate	40603987
Hypertension	Associate	19880069
Hypertrophy	Associate	11214007, 15358028, 17612745, 18365899, 20433692, 34854353, 37656238, 37802074, 39647438
Hypertrophy Left Ventricular	Associate	10424815, 30681346, 32233023, 36902340
Hypertrophy Right Ventricular	Associate	28323875
Ichthyosis Lamellar	Associate	26337809
Immunoglobulin G4 Related Disease	Associate	22857948
Isolated Noncompaction of the Ventricular Myocardium	Associate	18159245, 22859017, 30471092
Isolated Systolic Hypertension	Associate	15528230
Kidney Failure Chronic	Associate	36007715
Kyphoscoliosis 1	Associate	31305444
LEOPARD Syndrome	Associate	27161364
Long QT Syndrome	Associate	36303204
Lung Neoplasms	Associate	35769670
Lymphatic Metastasis	Stimulate	35769670
Lymphoma Large B Cell Diffuse	Associate	37904615
Lysinuric Protein Intolerance	Associate	9199570
MELAS Syndrome	Associate	33484326
Minicore Myopathy with External Ophthalmoplegia	Associate	23478172, 28927399
Mitochondrial Diseases	Associate	33484326
Mitochondrial encephalopathy	Associate	33484326
Mitral Valve Insufficiency	Associate	21750094
Monophalangy of Great Toe	Associate	16103042
Motor Neuron Disease	Associate	15858117
Muscle Neoplasms	Associate	25531450, 8483915
Muscle Rigidity	Associate	24664454
Muscle Weakness	Associate	23478172, 24664454, 27387980, 28927399, 31305444
Muscular Diseases	Associate	23478172, 27005958, 27387980, 28927399, 31305444, 32607476, 36539320, 37457373, 37788100
Muscular Dystrophies Limb Girdle	Associate	29970176
Musculoskeletal Diseases	Associate	31305444, 34680864
Myopathies Structural Congenital	Associate	23478172, 28927399
Myopathy Central Core	Associate	24828896, 8483915
Myopathy Hyaline Body Autosomal Recessive	Associate	32607476
Myopathy Myosin Storage	Associate	15322983, 23478172, 24664454, 27387980, 28927399, 31068177, 37794383
Myotonia Congenita	Associate	23478172
Neoplasm Metastasis	Inhibit	37087570
Neoplasms	Associate	37087570, 37340028, 37904615, 39656775
Nephrosis congenital	Associate	15322983
Noncompaction of Left Ventricular Myocardium Familial Isolated Autosomal Dominant 1	Associate	23117287, 28855170, 33500567
Paroxysmal ventricular fibrillation	Associate	37949661
Prostatic Neoplasms	Associate	36095024, 36245556
Respiratory Insufficiency	Associate	31068177
Scoliosis	Associate	24664454
Seizures	Associate	33484326
Squamous Cell Carcinoma of Head and Neck	Associate	37340028, 37679666
Stroke	Associate	35544069
Tachycardia Ventricular	Associate	24093860
Vascular Calcification	Associate	40565367
Ventricular Dysfunction Left	Associate	18383048, 29121657, 36007715, 37802074, 38101154
Ventricular Fibrillation	Associate	24119082
Ventricular Outflow Obstruction Left	Associate	21799269
Ventricular Remodeling	Associate	29386531, 36007715

MYH7 (myosin heavy chain 7)