MYBPC3 (myosin binding protein C3)

Gene

• Entrez ID: 4607
• Gene name: Myosin binding protein C3
• Gene symbol: MYBPC3
• Synonyms (NCBI Gene): CMD1MM, CMH4, FHC, LVNC10, MYBP-C, cMyBP-C
• Chromosome: 11
• Chromosome location: 11p11.2
• Summary: MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2856655	C>G,T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs11570045	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs11570077	G>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs11570112	G>A,C	Benign-likely-benign, likely-benign, benign, pathogenic	Missense variant, stop gained, coding sequence variant
rs35736435	C>T	Benign, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs36211723	C>G,T	Pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs36212064	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs36212066	AGGGAAGCCATCCAGGCTGAGAGGG>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Intron variant
rs61897383	G>A,C,T	Benign, likely-benign, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs111437311	A>G,T	Pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs111683277	C>G,T	Pathogenic, not-provided	Splice donor variant
rs111729952	T>A,C,G	Pathogenic	Splice acceptor variant
rs112179534	T>G	Pathogenic	Splice acceptor variant
rs112738974	C>A,G,T	Pathogenic	Splice donor variant
rs112917345	T>C	Likely-pathogenic	Splice acceptor variant
rs112999777	A>C,G,T	Likely-pathogenic	Splice donor variant
rs113276889	C>A,G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs113358486	A>C,G,T	Pathogenic	Splice donor variant
rs113709679	C>A,T	Pathogenic	Splice donor variant
rs121909374	C>A,G	Pathogenic	Coding sequence variant, stop gained, missense variant
rs121909375	T>C	Pathogenic	Coding sequence variant, missense variant
rs121909376	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs121909377	C>A,T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs121909378	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs187830361	A>C,G,T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs190228518	G>A,T	Pathogenic, benign-likely-benign	Stop gained, coding sequence variant, synonymous variant
rs190765116	C>A,T	Likely-pathogenic, likely-benign, benign	Stop gained, coding sequence variant, missense variant
rs193922377	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs193922380	G>A,C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs193922381	C>A,T	Uncertain-significance, likely-pathogenic	Intron variant
rs193922383	G>A,T	Pathogenic, likely-benign	Stop gained, coding sequence variant, synonymous variant
rs193922384	->CAGACATAGATGCCCCCG	Pathogenic	Coding sequence variant, inframe insertion
rs193922386	G>A,C,T	Uncertain-significance, likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs199669878	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant, missense variant
rs199728019	C>T	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199741162	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199865688	C>T	Uncertain-significance, likely-benign, pathogenic	Coding sequence variant, missense variant
rs200119454	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200352299	C>T	Uncertain-significance, likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200411226	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs200625851	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs201078659	G>A,C,T	Uncertain-significance, likely-pathogenic, likely-benign	Intron variant
rs201098973	C>A,T	Uncertain-significance, likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201278114	C>A,G	Uncertain-significance, likely-benign, pathogenic	Coding sequence variant, missense variant
rs201312636	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs202139499	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs367947846	G>A,C	Pathogenic, likely-benign, benign	Stop gained, coding sequence variant, synonymous variant
rs367990952	G>A,C	Likely-pathogenic, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs368121566	C>A,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs368765949	C>A,T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs370412052	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs371061770	G>A,C	Likely-benign, uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs371401403	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs371488302	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs371513491	C>G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs371564200	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs372502369	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373164247	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs373746463	C>A,G,T	Pathogenic, likely-pathogenic	Intron variant
rs373792537	G>A,C,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs374255381	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs374673836	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs375347534	C>A,T	Uncertain-significance, pathogenic	Intron variant
rs375471260	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs375607980	T>A,G	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs375675796	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs375882485	G>A,C	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs376083315	G>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs376395543	T>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs376504548	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs377595584	G>A,C	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs387906397	A>C,G	Pathogenic, likely-pathogenic	Splice donor variant
rs387907267	G>A	Pathogenic	Stop gained, coding sequence variant
rs397514444	AGGTAAAGAGAGGGAGGGAAGCCAT>-	Risk-factor	Intron variant
rs397514751	C>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs397514752	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs397515884	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs397515888	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs397515889	G>-,GG	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, frameshift variant
rs397515890	C>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs397515891	T>C	Pathogenic	Splice acceptor variant
rs397515893	C>T	Uncertain-significance, pathogenic	Intron variant
rs397515894	AA>-,AAA	Pathogenic	Stop gained, coding sequence variant
rs397515895	G>A	Pathogenic	Stop gained, coding sequence variant
rs397515896	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515897	A>C,G	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs397515900	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs397515903	C>G,T	Pathogenic	Splice acceptor variant
rs397515905	G>A,C,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs397515907	C>A,T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397515910	A>C,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs397515912	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs397515916	T>A	Pathogenic-likely-pathogenic, pathogenic	Intron variant
rs397515920	T>A	Pathogenic	Stop gained, coding sequence variant
rs397515925	TGCCCTCTGTG>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs397515926	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515931	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515932	G>A,T	Benign-likely-benign, likely-benign, pathogenic, likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs397515933	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515934	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515935	C>T	Pathogenic	Splice donor variant
rs397515937	T>C	Pathogenic	Splice acceptor variant
rs397515938	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs397515939	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs397515942	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs397515943	AGGG>CC	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs397515944	->A	Pathogenic	Coding sequence variant, frameshift variant
rs397515945	C>T	Likely-benign, pathogenic	Missense variant, coding sequence variant
rs397515947	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515948	->T	Pathogenic	Coding sequence variant, frameshift variant
rs397515950	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs397515952	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515954	C>A	Pathogenic	Stop gained, coding sequence variant
rs397515960	->C	Pathogenic	Coding sequence variant, frameshift variant
rs397515963	->C	Pathogenic	Coding sequence variant, frameshift variant
rs397515964	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs397515965	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs397515966	->A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs397515969	C>A,G,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs397515970	->A	Pathogenic	Coding sequence variant, frameshift variant
rs397515972	CGCATCTCG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs397515973	ACGCG>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515974	G>A,C,T	Pathogenic, likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs397515975	CG>AGA	Pathogenic	Coding sequence variant, frameshift variant
rs397515977	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515979	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs397515982	C>T	Pathogenic	Stop gained, coding sequence variant
rs397515987	GC>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515990	AG>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs397515991	C>G,T	Uncertain-significance, pathogenic	Splice donor variant
rs397515992	G>A	Pathogenic	Stop gained, coding sequence variant
rs397515993	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs397515995	TCTGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515997	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs397516000	C>G,T	Uncertain-significance, pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397516001	->T	Pathogenic	Coding sequence variant, frameshift variant
rs397516002	G>A,C,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs397516005	G>A	Pathogenic	Stop gained, coding sequence variant
rs397516006	C>T	Pathogenic	Stop gained, coding sequence variant
rs397516007	->G	Pathogenic	Coding sequence variant, frameshift variant
rs397516008	->A	Pathogenic	Coding sequence variant, frameshift variant
rs397516010	C>A,G	Pathogenic, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs397516013	C>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs397516014	->C	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs397516016	G>A,C,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397516019	->TAAA	Pathogenic	Coding sequence variant, frameshift variant
rs397516020	C>A,G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs397516022	T>A,C,G	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Splice acceptor variant
rs397516023	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs397516028	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs397516029	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs397516031	C>G,T	Pathogenic	Splice donor variant
rs397516032	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs397516035	T>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs397516037	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs397516038	G>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs397516039	A>C,G	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs397516040	TGG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs397516042	G>A	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs397516044	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Splice acceptor variant
rs397516045	C>G,T	Uncertain-significance, pathogenic	Missense variant, initiator codon variant
rs397516047	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs397516049	->T	Pathogenic	Coding sequence variant, frameshift variant
rs397516050	C>T	Uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397516052	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs397516053	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs397516054	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs397516056	C>A,G,T	Pathogenic	Splice acceptor variant
rs397516057	T>G	Pathogenic	Splice acceptor variant
rs397516058	GCGGCTTCAGGAGGCTGGCG>-	Pathogenic	Coding sequence variant, frameshift variant
rs397516059	->A	Pathogenic	Coding sequence variant, frameshift variant
rs397516061	G>A	Pathogenic	Stop gained, coding sequence variant
rs397516067	C>T	Pathogenic	Splice acceptor variant
rs397516068	C>A,G	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397516070	T>G	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397516072	C>T	Pathogenic	Splice donor variant
rs397516073	C>G,T	Pathogenic	Splice donor variant
rs397516074	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397516076	A>G,T	Pathogenic	Splice donor variant
rs397516077	C>T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant
rs397516080	AA>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs397516082	T>C	Pathogenic	Splice acceptor variant
rs397516083	C>T	Pathogenic	Intron variant
rs398123279	AC>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs398123280	C>T	Uncertain-significance, likely-pathogenic	Intron variant
rs543376073	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs564378953	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs569740494	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs573821685	G>A,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs573916965	C>A,T	Pathogenic, benign, likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs587776699	C>T	Pathogenic, likely-pathogenic	Intron variant
rs587776700	C>G,T	Pathogenic	Splice acceptor variant
rs587782957	AACCG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs587782958	C>T	Pathogenic	Intron variant
rs727503166	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs727503167	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs727503170	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503171	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503172	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs727503174	->C	Pathogenic	Coding sequence variant, frameshift variant
rs727503175	CCCGGATGAACAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs727503176	A>G	Pathogenic	Splice donor variant
rs727503178	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs727503180	G>A	Pathogenic	Coding sequence variant, stop gained
rs727503182	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs727503184	A>T	Pathogenic	Splice donor variant
rs727503185	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs727503186	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs727503187	GACGCGCATCTCGTACACCACG>-	Pathogenic	Coding sequence variant, frameshift variant
rs727503188	G>A,C,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, synonymous variant
rs727503190	T>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503192	AG>C,T	Pathogenic	Coding sequence variant, frameshift variant
rs727503194	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503195	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs727503197	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs727503203	GG>-,GGG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs727503204	C>G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs727503209	->A	Pathogenic	Coding sequence variant, stop gained
rs727503210	G>A	Pathogenic	Coding sequence variant, stop gained
rs727503211	C>T	Pathogenic	Coding sequence variant, stop gained
rs727503212	C>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs727503217	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs727503219	C>G,T	Likely-pathogenic	Intron variant
rs727503220	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs727504235	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727504248	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs727504252	T>A	Pathogenic	Coding sequence variant, stop gained
rs727504259	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs727504265	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs727504269	C>A,G,T	Pathogenic	Splice donor variant
rs727504271	CAGCAGAGCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs727504276	C>T	Pathogenic	Coding sequence variant, stop gained
rs727504279	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs727504287	CTT>-	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, inframe deletion
rs727504288	CTT>-	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, inframe deletion
rs727504289	G>A,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs727504293	G>A	Pathogenic	Coding sequence variant, stop gained
rs727504305	C>G,T	Pathogenic	Splice acceptor variant
rs727504314	C>G,T	Pathogenic	Splice donor variant
rs727504321	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs727504329	G>A	Pathogenic	Coding sequence variant, stop gained
rs727504333	T>C	Pathogenic	Splice acceptor variant
rs727504334	C>A,T	Pathogenic	Splice acceptor variant
rs727504349	C>T	Pathogenic	Coding sequence variant, stop gained
rs727504366	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs727504371	GA>T	Pathogenic	Coding sequence variant, frameshift variant
rs727504380	T>C	Likely-pathogenic, uncertain-significance	Stop lost, terminator codon variant
rs727504390	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs727504423	T>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs727504864	G>A,C,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs727504887	C>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727505152	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880138	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730880140	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880141	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs730880143	C>T	Likely-pathogenic	Splice acceptor variant
rs730880335	->A	Pathogenic	Coding sequence variant, stop gained
rs730880336	->TGCCG	Pathogenic	Coding sequence variant, frameshift variant
rs730880337	->ACTC	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs730880341	->A	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs730880361	->A	Pathogenic	Coding sequence variant, frameshift variant
rs730880362	->CC	Pathogenic	Coding sequence variant, frameshift variant
rs730880366	->G	Pathogenic	Coding sequence variant, frameshift variant
rs730880531	T>C	Pathogenic	Splice acceptor variant
rs730880532	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880533	T>A	Pathogenic	Coding sequence variant, stop gained
rs730880538	G>A	Pathogenic	Coding sequence variant, stop gained
rs730880539	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs730880542	C>T	Pathogenic	Coding sequence variant, stop gained
rs730880544	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs730880546	C>T	Pathogenic	Coding sequence variant, stop gained
rs730880551	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730880553	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880554	T>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880555	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880557	T>G	Likely-pathogenic	Intron variant
rs730880558	C>T	Pathogenic	Splice acceptor variant
rs730880560	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880564	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880565	G>A	Likely-pathogenic, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs730880566	C>T	Pathogenic	Coding sequence variant, missense variant
rs730880568	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880573	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs730880576	C>T	Pathogenic	Coding sequence variant, stop gained
rs730880578	G>A	Pathogenic	Coding sequence variant, stop gained
rs730880580	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880581	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880582	T>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880584	C>T	Pathogenic	Splice acceptor variant
rs730880585	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880586	G>A	Pathogenic	Coding sequence variant, stop gained
rs730880590	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880592	G>A,C,T	Likely-pathogenic, uncertain-significance	Intron variant
rs730880593	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880594	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880595	C>A,G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880597	C>T	Pathogenic	Coding sequence variant, stop gained
rs730880598	C>A	Pathogenic	Coding sequence variant, stop gained
rs730880600	G>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs730880603	G>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880604	A>C,G	Pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs730880605	G>A	Pathogenic	Coding sequence variant, stop gained
rs730880609	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880618	G>A	Pathogenic	Coding sequence variant, stop gained
rs730880619	C>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880620	C>T	Pathogenic, likely-pathogenic	Splice donor variant
rs730880621	C>A,T	Pathogenic, not-provided	Splice donor variant
rs730880622	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880623	T>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880624	A>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880629	T>A,G	Pathogenic	Coding sequence variant, missense variant, stop gained
rs730880631	G>A	Pathogenic	Coding sequence variant, stop gained
rs730880632	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880633	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880634	A>C,G	Pathogenic	Splice donor variant
rs730880635	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs730880637	G>A	Pathogenic	Coding sequence variant, stop gained
rs730880639	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs730880640	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880641	A>C,G	Pathogenic	Splice donor variant
rs730880642	CC>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880646	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880647	C>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs730880648	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880649	->T	Pathogenic	Coding sequence variant, frameshift variant
rs730880650	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880651	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880652	GCATC>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880653	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs730880654	GACGCGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs730880655	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880657	CGCTGTAGCCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880658	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880660	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs730880661	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880662	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880663	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880664	G>-	Pathogenic	Coding sequence variant, stop gained
rs730880666	C>TT	Pathogenic	Coding sequence variant, frameshift variant
rs730880667	C>-	Pathogenic	Intron variant
rs730880668	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs730880671	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880672	->C	Pathogenic	Coding sequence variant, frameshift variant
rs730880674	TAG>-	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, inframe deletion
rs730880675	ATAAAGACGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880677	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs730880678	->AGTT	Pathogenic	Coding sequence variant, frameshift variant
rs730880679	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880680	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880681	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880683	->A	Pathogenic	Coding sequence variant, frameshift variant
rs730880684	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880686	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880687	CGCG>GC	Pathogenic	Coding sequence variant, frameshift variant
rs730880688	->G	Pathogenic	Coding sequence variant, frameshift variant
rs730880689	->TGGTCAGCCAGTTCCA	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs730880690	C>G	Likely-pathogenic	Intron variant
rs730880691	C>T	Pathogenic	Intron variant
rs730880693	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880694	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880695	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880698	G>A,C,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs730880699	G>A	Pathogenic	Coding sequence variant, stop gained
rs730880701	C>T	Pathogenic	Coding sequence variant, stop gained
rs730880702	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880703	G>C	Pathogenic	Coding sequence variant, stop gained
rs730880704	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs730880712	->AGTG	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs730880713	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880714	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880715	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880716	->A	Pathogenic	Coding sequence variant, frameshift variant
rs730880717	TCACGCAGGATCTCCT>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs730880718	CCAACAACCTGCA>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs730880719	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880720	->T	Pathogenic	Coding sequence variant, frameshift variant
rs730880721	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880723	->T	Pathogenic	Coding sequence variant, frameshift variant
rs730880724	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs745811346	GT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs749310275	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs750425291	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs753321277	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs764743402	->CG	Pathogenic	Coding sequence variant, frameshift variant
rs767039057	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs767239679	C>T	Pathogenic	Splice donor variant
rs767698543	C>A,G	Likely-pathogenic	Splice donor variant
rs769167548	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs770030288	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs770157084	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs771929829	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs774316050	G>A,C,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs774521272	->A	Pathogenic	Coding sequence variant, frameshift variant
rs775404728	G>A,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, synonymous variant, missense variant
rs779650200	C>T	Pathogenic	Stop gained, coding sequence variant
rs780012957	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs786204329	->AAGGCAGGCTGGGCATCGGTGATGTG	Pathogenic	Frameshift variant, coding sequence variant
rs786204339	GG>-,G	Pathogenic	Frameshift variant, coding sequence variant
rs786204362	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205470	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs794727046	C>G,T	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs863224483	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs863224899	C>T	Likely-pathogenic	Splice acceptor variant
rs863225104	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863225105	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863225106	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs863225107	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863225109	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863225111	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863225112	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs863225113	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs863225114	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863225271	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225272	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs864622197	C>T	Pathogenic, likely-pathogenic	Intron variant
rs864622224	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs868819340	C>A,G	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs869025459	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs869025460	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs869025461	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs869025462	GCTGAT>CTCATCA	Likely-pathogenic	Stop gained, coding sequence variant, inframe indel
rs869025463	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs869025464	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs869025465	AGTTCCACGGTCAGCC>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs869025466	C>T	Likely-pathogenic	Splice acceptor variant
rs869025467	A>G	Likely-pathogenic	Splice donor variant
rs869025468	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs869025469	T>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs869025470	A>G	Likely-pathogenic	Splice donor variant
rs876657702	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs876657703	->C	Pathogenic	Frameshift variant, coding sequence variant
rs876657704	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs876657705	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs876657706	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs876661363	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs876661365	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs876661368	C>G,T	Likely-pathogenic	Splice donor variant
rs878853831	ACCTCCAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886037900	C>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs886037901	->TCAG	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs886037902	CC>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs886038822	G>T	Pathogenic	Stop gained, coding sequence variant
rs886039000	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs886039028	C>A	Pathogenic	Stop gained, coding sequence variant
rs886041030	T>C	Pathogenic	Intron variant
rs886041031	AGGT>GCCATTCTTGAA	Pathogenic	Frameshift variant, coding sequence variant
rs886041320	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs977277400	C>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1025692267	C>T	Pathogenic	Intron variant
rs1057517766	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517767	CG>-	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1057517769	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057517920	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057517939	->T	Pathogenic	Stop gained, coding sequence variant
rs1057518030	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057521823	C>T	Likely-pathogenic	Splice donor variant
rs1060499604	C>A,T	Likely-pathogenic	Splice donor variant
rs1060499673	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501474	G>T	Pathogenic	Missense variant, coding sequence variant
rs1060501475	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501478	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501479	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1060501480	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501481	->TT	Pathogenic	Coding sequence variant, frameshift variant
rs1060501484	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064792936	TGG>CCTCC	Pathogenic	Coding sequence variant, frameshift variant
rs1064793201	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793202	->TT	Pathogenic	Coding sequence variant, frameshift variant
rs1064793429	CA>-	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs1064793536	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793642	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793891	G>A,C	Pathogenic	Intron variant
rs1064794209	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064794471	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796231	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1085307897	ACACCGTGCCT>CAGG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1085307978	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1085308024	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1114167419	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1219818351	T>G	Pathogenic	Splice acceptor variant
rs1248588905	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1260212325	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1263496800	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1265248322	CA>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1298025872	C>A,G	Likely-pathogenic	Splice donor variant
rs1299079662	A>C,G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1338707268	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1409755826	C>G	Likely-pathogenic	Splice acceptor variant
rs1419032418	C>T	Pathogenic	Coding sequence variant, stop gained
rs1432810664	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1436261457	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1444727212	C>T	Pathogenic	Splice donor variant
rs1555120258	A>-	Pathogenic	Splice donor variant
rs1555120261	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, synonymous variant
rs1555120300	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555120309	->TATA	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1555120529	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555120639	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, synonymous variant
rs1555120651	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555120792	C>T	Pathogenic	Splice acceptor variant
rs1555120920	C>A	Pathogenic	Coding sequence variant, stop gained
rs1555120927	->AGGC	Pathogenic	Coding sequence variant, frameshift variant
rs1555120937	->CGCCACTTGAGGGAGACCGTGGTGTC	Pathogenic	Coding sequence variant, frameshift variant
rs1555120956	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555121145	A>C	Likely-pathogenic	Splice donor variant
rs1555121172	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555121247	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555121260	CT>TGGA	Likely-pathogenic	Splice acceptor variant
rs1555121331	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555121467	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555121488	T>-	Pathogenic	Splice acceptor variant
rs1555121871	C>A	Pathogenic	Coding sequence variant, stop gained
rs1555121907	AGCTGTAGTCAGCCTCGTCG>GCTGTA	Pathogenic	Coding sequence variant, frameshift variant
rs1555121924	GTCGGCAG>T	Pathogenic	Coding sequence variant, frameshift variant
rs1555122053	C>T	Likely-pathogenic	Splice donor variant
rs1555122143	->T	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1555122156	TAGTGCACAGTGCATAGTGCCCCGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555122177	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555122188	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555122196	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555122462	->CAGCT	Pathogenic	Coding sequence variant, frameshift variant
rs1555122751	CTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555122811	ACCTC>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1555122928	C>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1555123138	A>C	Pathogenic	Coding sequence variant, stop gained
rs1555123389	TCGTGCAGCTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555123438	->CTGC	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1555123473	TCACCCAC>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1555123496	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555123597	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555123629	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555123633	->ATGG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1555123743	G>AA	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1565622703	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1565622952	G>T	Pathogenic	Coding sequence variant, stop gained
rs1565623093	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565623216	TGTCTGCGGGAGAC>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1565623439	TGAAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1565623713	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1565624090	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1565624196	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565624607	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1565625473	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1565625777	->CGAT	Pathogenic	Coding sequence variant, frameshift variant
rs1565625795	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1565626367	->ATAG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1565626409	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1565627110	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565627145	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1565627536	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565627566	ACATTTGAACACCGC>CTAAACCTCATCCTTCTCATCTCTAAAATGACGATGCTGAGGTGACCGCTCCAGAGGGTACTGAGAGGGTCATACGGGCCTGGTGAGCATCACCACCCCTCAGACACTTGAGGTTCCTTATGTGCACTGCACCATCACAGGCAAACATGGCACACACAGGCACACGTGTTTTCACATGCCCACATGCACCCAGACACGTGCGCACCAGCGCCCATGGGCCCACACGCCCTCCACAGGGA	Likely-pathogenic	Coding sequence variant, inframe indel, stop gained
rs1565627615	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1565628062	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565628078	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1565628486	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565628520	->GCTCACCTGGTAGGCCGGCTCCAGCTTCT	Likely-pathogenic	Coding sequence variant, inframe indel, stop gained
rs1565629792	T>C	Pathogenic-likely-pathogenic	Splice acceptor variant
rs1565631381	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1565631424	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565631428	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565631430	ATGGGCTCTG>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1595840648	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1595840834	TC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1595841063	AGCG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1595841206	->ATAA	Pathogenic	Frameshift variant, coding sequence variant
rs1595841552	C>T	Pathogenic	Coding sequence variant, stop gained
rs1595841736	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1595841767	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1595842017	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1595842238	TGTC>-	Pathogenic	Intron variant
rs1595842632	T>A	Likely-pathogenic	Splice acceptor variant
rs1595843549	->TGGGC	Pathogenic	Frameshift variant, coding sequence variant
rs1595843553	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1595843598	->CG	Pathogenic	Frameshift variant, coding sequence variant
rs1595843640	G>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1595843758	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1595843828	C>T	Pathogenic	Splice donor variant
rs1595844714	->TGGG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1595845204	G>A	Pathogenic	Intron variant
rs1595845888	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1595846344	CC>G	Pathogenic	Frameshift variant, coding sequence variant
rs1595846398	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1595846475	TTCTCGCCAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1595847753	CAGT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1595848628	T>A	Likely-pathogenic	Splice acceptor variant
rs1595849603	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1595849742	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1595849931	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1595850762	->C	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2277214	hsa-miR-1288	CLIP-seq
MIRT2277215	hsa-miR-3169	CLIP-seq
MIRT2277216	hsa-miR-3664-3p	CLIP-seq
MIRT2277217	hsa-miR-4436a	CLIP-seq
MIRT2277218	hsa-miR-510	CLIP-seq
MIRT2277219	hsa-miR-549	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001671	Function	ATPase activator activity	ISS
GO:0003007	Process	Heart morphogenesis	IMP	7493025
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	21569246
GO:0005829	Component	Cytosol	TAS
GO:0005863	Component	Striated muscle myosin thick filament	IDA	10024460
GO:0005863	Component	Striated muscle myosin thick filament	ISS
GO:0006942	Process	Regulation of striated muscle contraction	ISS
GO:0007155	Process	Cell adhesion	IEA
GO:0008307	Function	Structural constituent of muscle	IEA
GO:0008307	Function	Structural constituent of muscle	IMP	7493025
GO:0014705	Component	C zone	NAS	15166115
GO:0017022	Function	Myosin binding	IDA	10024460
GO:0017022	Function	Myosin binding	IEA
GO:0030017	Component	Sarcomere	IDA	10024460
GO:0030017	Component	Sarcomere	IEA
GO:0031430	Component	M band	IBA
GO:0031432	Function	Titin binding	NAS	7493025
GO:0031672	Component	A band	IDA	10024460, 19850579
GO:0032036	Function	Myosin heavy chain binding	IBA
GO:0032036	Function	Myosin heavy chain binding	IPI	17192269
GO:0032971	Process	Regulation of muscle filament sliding	ISS
GO:0032982	Component	Myosin filament	IEA
GO:0042802	Function	Identical protein binding	IPI	18201573
GO:0045214	Process	Sarcomere organization	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IBA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	11815426, 16754800
GO:0060048	Process	Cardiac muscle contraction	ISS
GO:0086004	Process	Regulation of cardiac muscle cell contraction	ISS
GO:0097512	Component	Cardiac myofibril	IDA	25771144

Other IDs

• MIM: 600958
• HGNC: 7551
• e!Ensembl: ENSG00000134571

Protein

• UniProt ID: Q14896
• Protein name: Myosin-binding protein C, cardiac-type (Cardiac MyBP-C) (C-protein, cardiac muscle isoform)
• Protein function: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate musc
• PDB: 1GXE, 1PD6, 2AVG, 2K1M, 2MQ0, 2MQ3, 2V6H, 3CX2, 5K6P, 6CXI, 6CXJ, 6G2T, 7LRG, 7TIJ, 7TIT, 7TJ7, 8G4L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	10 → 94	Immunoglobulin I-set domain	Domain
  PF07679	I-set	156 → 256	Immunoglobulin I-set domain	Domain
  PF18362	THB	320 → 353	Tri-helix bundle domain	Domain
  PF07679	I-set	363 → 449	Immunoglobulin I-set domain	Domain
  PF07679	I-set	454 → 540	Immunoglobulin I-set domain	Domain
  PF07679	I-set	545 → 626	Immunoglobulin I-set domain	Domain
  PF07679	I-set	653 → 768	Immunoglobulin I-set domain	Domain
  PF00041	fn3	773 → 858	Fibronectin type III domain	Domain
  PF00041	fn3	871 → 955	Fibronectin type III domain	Domain
  PF07679	I-set	975 → 1062	Immunoglobulin I-set domain	Domain
  PF00041	fn3	1067 → 1151	Fibronectin type III domain	Domain
  PF07679	I-set	1181 → 1270	Immunoglobulin I-set domain	Domain

• Sequence:

  MPEPGKKPVSAFSKKPRSVEVAAGSPAVFEAETERAGVKVRWQRGGSDISASNKYGLATE
  GTRHTLTVREVGPADQGSYAVIAGSSKVKFDLKVIEAEKAEPMLAPAPAPAEATGAPGEA
  PAPAAELGESAPSPKGSSSAALNGPTPGAPDDPIGLFVMRPQDGEVTVGGSITFSARVAG
  ASLLKPPVVKWFKGKWVDLSSKVGQHLQLHDSYDRASKVYLFELHITDAQPAFTGSYRCE
  VSTKDKFDCSNFNLTVHEAMGTGDLDLLSAFRRTSLAGGGRRISDSHEDTGILDFSSLLK
  KRDSFRTPRDSKLEAPAEEDVWEILRQAPPSEYERIAFQYGVTDLRGMLKRLKGMRRDEK
  KSTAFQKKLEPAYQVSKGHKIRLTVELADHDAEVKWLKNGQEIQMSGSKYIFESIGAKRT
  LTISQCSLADDAAYQCVVGGEKCSTELFVKEPPVLITRPLEDQLVMVGQRVEFECEVSEE
  GAQVKWLKDGVELTREETFKYRFKKDGQRHHLIINEAMLEDAGHYALCTSGGQALAELIV
  QEKKLEVYQSIADLMVGAKDQAVFKCEVSDENVRGVWLKNGKELVPDSRIKVSHIGRVHK
  LTIDDVTPADEADYSFVPEGFACNLSAKLHFMEVKIDFVPRQEPPKIHLDCPGRIPDTIV
  VVAGNKLRLDVPISGDPAPTVIWQKAITQGNKAPARPAPDAPEDTGDSDEWVFDKKLLCE
  TEGRVRVETTKDRSIFTVEGAEKEDEGVYTVTVKNPVGEDQVNLTVKVIDVPDAPAAPKI
  SNVGEDSCTVQWEPPAYDGGQPILGYILERKKKKSYRWMRLNFDLIQELSHEARRMIEGV
  VYEMRVYAVNAIGMSRPSPASQPFMPIGPPSEPTHLAVEDVSDTTVSLKWRPPERVGAGG
  LDGYSVEYCPEGCSEWVAALQGLTEHTSILVKDLPTGARLLFRVRAHNMAGPGAPVTTTE
  PVTVQEILQRPRLQLPRHLRQTIQKKVGEPVNLLIPFQGKPRPQVTWTKEGQPLAGEEVS
  IRNSPTDTILFIRAARRVHSGTYQVTVRIENMEDKATLVLQVVDKPSPPQDLRVTDAWGL
  NVALEWKPPQDVGNTELWGYTVQKADKKTMEWFTVLEHYRRTHCVVPELIIGNGYYFRVF
  SQNMVGFSDRAATTKEPVFIPRPGITYEPPNYKALDFSEAPSFTQPLVNRSVIAGYTAML
  CCAVRGSPKPKISWFKNGLDLGEDARFRMFSKQGVLTLEIRKPCPFDGGIYVCRATNLQG
  EARCECRLEVRVPQ

• Sequence length: 1274

Pathways

KEGG:

Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Dilated cardiomyopathy

Reactome:

Striated Muscle Contraction

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
cardiomyopathy	Cardiomyopathy	rs397516080, rs1555122928, rs977277400, rs2856655, rs727503213, rs730880654, rs727503180, rs730880672, rs786204339, rs397516072, rs368121566, rs730880648, rs1565623439, rs730880717, rs397516074, rs397516020, rs376395543, rs397516042, rs730880671, rs397516019, rs397515905, rs368765949, rs730880335, rs1565623713, rs730880531, rs397515992, rs113358486, rs730880698, rs1064793429, rs111729952, rs727504334, rs397515937, rs730880336, rs727503166, rs36211723, rs779650200, rs730880713, rs1565626367, rs387907267, rs397515974, rs121909374, rs397516029, rs397515907, rs864622224, rs730880675, rs397515894, rs730880686, rs863225106, rs397515916, rs727503182, rs1565627110, rs397515926, rs730880718, rs397516057, rs727504287, rs727503172, rs397516076, rs397515979, rs397516068, rs730880714, rs397516037, rs1565627145, rs727504271, rs397515990, rs375607980, rs730880704, rs1060501479, rs397515954, rs1432810664, rs727504265, rs397516006, rs745811346, rs727504269, rs587776700, rs397515960, rs397515889, rs397516044, rs727503192, rs786204336, rs1444727212, rs397516073, rs1060499604, rs397516082, rs730880639, rs876657705, rs863225113, rs869025469, rs397515982, rs727503212, rs727504314, rs730880546, rs1565628520, rs730880666, rs397515943, rs375882485, rs727504321, rs397516077, rs2095894178, rs397515977, rs730880655, rs397516031, rs397516007, rs1565623093, rs730880651, rs774316050, rs397515932, rs727504289, rs730880362, rs397516059, rs730880689, rs200411226, rs397515912, rs397516005, rs730880719, rs397515934, rs397516070, rs730880629, rs387906397, rs397516040, rs727503203, rs193922384, rs397515944, rs1565631430, rs397516023, rs397515991, rs1060501484, rs397516083, rs121909377, rs730880715, rs112738974, rs397515925, rs730880695, rs397516008, rs373746463, rs397515903, rs587782958, rs367947846, rs397515973, rs397515893, rs727503204, rs397515963, rs727503195, rs397516049, rs730880533, rs397515947, rs794727046, rs111683277	N/A
Cardiomyopathy	Primary dilated cardiomyopathy, left ventricular noncompaction cardiomyopathy	rs397516073, rs876657704, rs397515939, rs1595843553	N/A
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	rs397516020, rs730880698, rs1555122751, rs1595846475, rs727504279, rs397516067, rs111729952, rs1298025872, rs397516042, rs1565629792, rs397516019, rs368765949, rs730880366, rs730880335, rs1057517767, rs727503174, rs730880639, rs1064792936, rs1595843640, rs727503195, rs397516052, rs730880533, rs121909374, rs187830361, rs863224899, rs397516029, rs397515907, rs1555123633, rs727504305, rs730880604, rs730880679, rs113358486, rs201078659, rs1064793429, rs1595849931, rs727505152, rs730880723, rs2856655, rs730880653, rs1565631381, rs863225112, rs397515916, rs767039057, rs727504333, rs397515926, rs730880640, rs727504334, rs397515937, rs727503220, rs368121566, rs779650200, rs730880647, rs397515965, rs727503175, rs387907267, rs36211723, rs397515974, rs397516056, rs727504287, rs397515948, rs1565625777, rs1555121172, rs1595841552, rs730880600, rs730880677, rs864622224, rs1555122928, rs397515894, rs1299079662, rs397516068, rs730880686, rs727503204, rs878853831, rs730880652, rs1565631424, rs397516037, rs727503182, rs730880712, rs730880668, rs1565622952, rs786204338, rs1555121488, rs397516039, rs1025692267, rs397516073, rs730880621, rs727504349, rs1060501475, rs397516082, rs1595840648, rs111437311, rs397516057, rs730880531, rs876657706, rs730880578, rs397515952, rs1565631428, rs863225107, rs1555123438, rs727503172, rs397515995, rs397516076, rs1555120529, rs397516006, rs730880664, rs397516010, rs771929829, rs398123279, rs397515979, rs1595848628, rs727503209, rs727504329, rs1565623216, rs397516044, rs730880544, rs727503192, rs397515942, rs1565625473, rs786204336, rs373792537, rs727504271, rs397515990, rs730880336, rs730880681, rs727503166, rs1057518030, rs730880713, rs397515966, rs727504314, rs397515888, rs1060501479, rs730880641, rs730880576, rs397515954, rs1565627566, rs397515997, rs2095880935, rs730880702, rs1555121247, rs727504265, rs730880675, rs730880663, rs397516013, rs397515895, rs745811346, rs1595849603, rs727503211, rs730880631, rs727504269, rs587776700, rs1265248322, rs863225106, rs397515931, rs730880718, rs397515943, rs1565626409, rs397516022, rs1444727212, rs2095879705, rs730880646, rs2095893477, rs397515975, rs1595841063, rs397516058, rs876657705, rs730880660, rs1565622703, rs397516001, rs774521272, rs730880720, rs1555123743, rs730880662, rs397516014, rs397515896, rs397515982, rs730880678, rs886037900, rs730880714, rs397516038, rs397515920, rs727504371, rs397515933, rs730880542, rs730880666, rs1565627536, rs375882485, rs727504321, rs730880337, rs375607980, rs727504390, rs2095883508, rs730880546, rs730880704, rs2095894178, rs397515889, rs397515977, rs1595843549, rs727503202, rs730880657, rs190765116, rs397516031, rs397515910, rs573821685, rs730880598, rs397516077, rs1555122156, rs727503184, rs397516007, rs1555120651, rs730880659, rs373746463, rs730880629, rs730880651, rs397515960, rs397515970, rs397516047, rs397515934, rs730880541, rs397515932, rs1565628062, rs397515991, rs730880362, rs730880361, rs2095884984, rs1060501480, rs1555123473, rs1060499604, rs1595843758, rs397516059, rs397515890, rs200411226, rs1595843598, rs863225113, rs397515912, rs1432810664, rs727503176, rs730880597, rs727503186, rs869025469, rs397515897, rs1555123389, rs587782958, rs1595850762, rs727503212, rs397516070, rs573916965, rs387906397, rs886037902, rs113276889, rs397516040, rs397515925, rs397515972, rs730880538, rs193922384, rs869025465, rs730880586, rs397515944, rs1565628486, rs397516023, rs1555120937, rs730880618, rs727504276, rs2095889902, rs193922383, rs1060501484, rs1555123496, rs397515891, rs1064796231, rs1595845565, rs727503203, rs121909377, rs876657703, rs730880655, rs112738974, rs1565625795, rs397516032, rs1555122188, rs727503178, rs730880699, rs727503197, rs727503187, rs397516008, rs868819340, rs786204352, rs397515903, rs1555120920, rs367947846, rs397515963, rs1419032418, rs397515973, rs730880341, rs727504366, rs786204329, rs1555123629, rs727504289, rs1595843828, rs2095891411, rs1555123597, rs730880703, rs397515893, rs1064793202, rs1595845888, rs397516061, rs730880724, rs876657702, rs1565628078, rs397516035, rs764743402, rs727504423, rs397516005, rs730880592, rs727504252, rs397515935, rs1555122053, rs1555121924, rs397515987, rs1595842238, rs727503217, rs886038822, rs730880558, rs863225271, rs1060501481, rs727504293, rs397516049, rs730880584, rs397515947, rs1565631430, rs863224483, rs794727046, rs111683277, rs2095898532, rs193922386, rs397516080, rs730880721, rs977277400, rs397516083, rs376395543, rs1595846344, rs730880635, rs727503213, rs730880654, rs774316050, rs863225105, rs1555120258, rs727503180, rs730880695, rs727504864, rs869025461, rs730880672, rs786204339, rs397515905, rs1595845204, rs727503219, rs397516072, rs730880684, rs727503210, rs1057517766, rs1565627615, rs1060501478, rs727504248, rs11570112, rs1565624090, rs397515992, rs113709679, rs730880605, rs397516074, rs730880680, rs2095879167	N/A
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy 4, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1	rs397516008, rs397515893, rs376395543, rs730880635, rs727503204, rs774316050, rs863225112, rs397516037, rs397515916, rs113358486, rs190228518, rs730880644, rs727504334, rs869025468, rs397515937, rs397515905, rs1555121488, rs397515990, rs1595845204, rs397515965, rs387907267, rs397515974, rs727504287, rs869025459, rs397515947, rs397515992, rs113709679, rs1555122928, rs730880698, rs397514752, rs397516068, rs727503213, rs111729952, rs1565629792, rs786204339, rs113276889, rs397516072, rs36211723, rs1595846398, rs727503195, rs121909374, rs869025462, rs730880578, rs863225107, rs397516029, rs397515907, rs727503172, rs397516020, rs397516010, rs398123279, rs727504269, rs2856655, rs863225106, rs397516044, rs397515926, rs397515966, rs730880641, rs1595849742, rs730880600, rs730880677, rs587776700, rs886037900, rs730880652, rs869025460, rs1025692267, rs397516073, rs730880704, rs2095893477, rs397516082, rs397515975, rs1595840648, rs111437311, rs886041030, rs876657705, rs863225114, rs397516006, rs869025470, rs1555123743, rs397515960, rs730880544, rs727503192, rs869025467, rs375882485, rs727503166, rs187830361, rs397515889, rs200411226, rs886041031, rs863225113, rs397516031, rs397515910, rs730880702, rs397516077, rs869025469, rs587782957, rs727503212, rs863225109, rs397515970, rs193922384, rs869025466, rs397515943, rs397516022, rs397515991, rs1595841206, rs1060499673, rs397516059, rs121909375, rs112738974, rs1432810664, rs397516005, rs397515897, rs1114167419, rs587782958, rs397516070, rs573916965, rs387906397, rs886037902, rs863225111, rs397516038, rs869025465, rs786204336, rs1444727212, rs1595844714, rs375607980, rs193922383, rs397516083, rs727503202, rs121909377, rs730880720, rs397516056, rs373746463, rs730880629, rs397515963, rs863225272, rs730880341, rs397516047, rs786204329, rs1595842632, rs397516080, rs730880703, rs2095894178, rs397515977, rs863225104, rs397515925, rs869025461, rs397515982, rs1595841736, rs886037901, rs730880651, rs863225271, rs1565624196, rs397516049, rs869025464, rs730880586, rs397516074, rs730880618, rs111683277, rs193922386, rs727503203, rs863225105, rs397515912, rs730880719, rs786204352, rs730880684, rs1419032418, rs397516040, rs727504366, rs869025463, rs1595843828, rs730880143, rs730880592, rs397515903, rs397516061, rs397516035, rs397516042, rs1555122053, rs1555120300, rs368765949, rs397515987, rs730880649, rs397515973, rs863224483, rs727504289	N/A
Left Ventricular Hypertrophy	left ventricular hypertrophy	rs397516037	N/A
Left ventricular noncompaction	Isolated Noncompaction of the Ventricular Myocardium, left ventricular noncompaction	rs886037900, rs730880336	N/A
Septal Hypertrophy	asymmetric septal hypertrophy	rs397516068	N/A
Ventricular Noncompaction	left ventricular noncompaction 10	rs36211723, rs397515990, rs730880639, rs397516074, rs397515916, rs869025468, rs397515905, rs397515907, rs786204336, rs1248588905, rs730880720, rs1595850762, rs397515925, rs397516022, rs397515982, rs397516073, rs727503212, rs375882485, rs200411226, rs1595843553, rs727504289, rs730880618, rs373746463	N/A
arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy	rs397515925	N/A
Mental retardation	intellectual disability	rs376395543	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Atrial Fibrillation	atrial fibrillation	N/A	N/A	GenCC
Brugada Syndrome	brugada syndrome	N/A	N/A	ClinVar
Catecholaminergic Polymorphic Ventricular Tachycardia	Catecholaminergic polymorphic ventricular tachycardia 1, catecholaminergic polymorphic ventricular tachycardia	N/A	N/A	ClinVar
Dilated Cardiomyopathy	Dilated Cardiomyopathy, Dominant, Dilated cardiomyopathy 1A, familial isolated dilated cardiomyopathy	N/A	N/A	ClinVar, GenCC
Long QT Syndrome	long qt syndrome	N/A	N/A	ClinVar
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS
Myopathy	dilated cardiomyopathy	N/A	N/A	GenCC
Paroxysmal atrial fibrillation	paroxysmal atrial fibrillation	N/A	N/A	ClinVar
Peripheral Neuropathy	peripheral neuropathy	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	N/A	N/A	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	21835286
Alzheimer Disease	Associate	30413934
Apical Hypertrophic Cardiomyopathy	Associate	19293840, 20433692, 20605413, 24594054, 27620334, 31199839, 34769381, 36877449, 9541115
Arrhythmias Cardiac	Associate	20359594, 33782553, 34400558, 35130036, 36835444, 37107598
Arrhythmogenic Right Ventricular Dysplasia	Associate	28699631, 36136372
Arthrogryposis	Associate	26752647
Arthrogryposis multiplex congenita distal type 2	Associate	25679999
Atrial Fibrillation	Associate	24093860, 30371277, 32841044, 33782553, 37271167
Atrioventricular Block	Associate	31524317
Autism Spectrum Disorder	Associate	31595719
Blood Protein Disorders	Associate	35893073
Carcinoma Neuroendocrine	Associate	31852810
Cardiomegaly	Associate	18403758, 34542152, 35717150
Cardiomyopathies	Associate	18403758, 18957093, 19151713, 20201939, 20605413, 21297165, 22194935, 22763267, 23140321, 25335496, 27834932, 28594148, 28679633, 29497013, 29641836, 30165862, 31361967, 31568709, 32009526, 33302605, 33803538, 34375846, 35130036, 35306227, 35544052, 35581137, 36011256, 36403549, 36980931, 37246080, 37449562, 37949661
Cardiomyopathy Dilated	Associate	12628722, 15671604, 16256878, 17224687, 18957093, 19293840, 20201939, 20215591, 20605413, 21750094, 21915287, 22763267, 24119082, 26163040, 26458567, 27173948, 28594148, 30150400, 30871747, 31024045, 31524317, 33135063, 34011823, 35306227, 36166435
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	29447731, 30371277, 30947911, 34853230, 35893073
Cardiomyopathy Hypertrophic	Associate	10424815, 10521296, 11499718, 11499719, 11847170, 12628722, 15519027, 16199542, 16256878, 16679492, 16799241, 17652099, 18258667, 18273486, 18383048, 18957093, 19356534, 19406073, 19574547, 19808356, 20045868, 20350521, 20359594, 20378854, 20433692, 20605413, 20615414, 20641121, 21165360, 21297165, 21750094, 21799269, 21835286, 21896538, 21915287, 22021246, 22112859, 22115648, 22178992, 22429680, 22555271, 22569109, 22763267, 22857948, 22869457, 23140321, 23233322, 23396983, 23840593, 24093860, 24113344, 24183960, 24589579, 25031304, 25086479, 25123604, 25342278, 25458192, 25543971, 26090888, 26163040, 26267065, 27160240, 27259862, 27483260, 27600940, 27620334, 27737317, 27841901, 28029522, 28481356, 28498465, 28538763, 28614222, 28658286, 28694399, 28699631, 28771489, 28797094, 29030401, 29121657, 29361520, 29386531, 29497013, 29631964, 29641836, 29663722, 29974557, 30150400, 30170119, 30316040, 30586709, 30600190, 30681346, 30700234, 30775854, 30871747, 30896616, 30947911, 30976029, 31170284, 31568709, 31813827, 31877118, 31919335, 32163302, 32284968, 32341788, 32344918, 32451163, 32824488, 32841044, 33297970, 33600558, 33657327, 33743363, 33757590, 33782553, 33803538, 33892289, 33983830, 34060810, 34087980, 34097875, 34375846, 34400558, 34542152, 34588271, 34680864, 34769381, 35257994, 35413566, 35508642, 35583889, 35717150, 35772297, 36011256, 36041398, 36162733, 36166435, 36555486, 36744470, 36802920, 36835444, 36877449, 36980931, 37107598, 37246080, 37271167, 37278928, 37317833, 37466024, 37498360, 37797718, 38002985, 38042491, 38104429, 38417376, 39260623, 39340495, 39594661, 39684611, 39851041, 9541115
Cardiomyopathy Hypertrophic Familial	Associate	10424815, 12117842, 20350521, 22112859, 22857948, 28498465, 28694399, 32841044, 35717150, 38104429, 38417376, 9218526, 9541104
Cardiomyopathy Restrictive	Associate	26163040, 33803538, 36011256
Cardiovascular Abnormalities	Associate	33849460
Cardiovascular Diseases	Associate	26223264, 34400558
Chorea Gravidarum	Associate	20458009
Congenital Abnormalities	Associate	20359594
Coronary Artery Disease	Associate	21915287
Coronary Disease	Associate	31524317
Death	Associate	25335496, 30371277
Death Sudden	Associate	15519027, 18403758, 18957093, 19406073, 23140321, 24119082, 28029522, 32101375, 37107598, 37498360
Death Sudden Cardiac	Associate	20435227, 20641121, 32973354, 33302605, 35717150, 36011256, 37787257, 38417376, 40221256
Developmental Disabilities	Associate	27173948
Disease	Associate	35177841
Dyspnea	Associate	33297970
Endocardial Fibroelastosis	Associate	33849460
familial dilated cardiomyopathy	Associate	20201939, 20215591, 36011256
Familial Primary Pulmonary Hypertension	Associate	19151713
Fibrosis	Associate	36802920, 36980931
Flatfoot	Associate	30976029
Genetic Diseases Inborn	Associate	28679633, 29654880, 32973354
Genetic Predisposition to Disease	Associate	37246080
Hearing Loss	Associate	27173948
Heart Arrest	Associate	34400558
Heart Defects Congenital	Associate	39838281
Heart Diseases	Associate	21915287, 22178992, 27834932, 29654880, 30700234, 37498360
Heart Failure	Associate	16256878, 18957093, 19151713, 20641121, 21915287, 23942052, 24119082, 25123604, 29641836, 29663722, 31524317, 32451163, 32841044, 33782553, 35306227, 36011256, 36403549, 36835444, 36980931, 37271167, 39851041
Heart Failure Diastolic	Associate	22529996, 26267065
Heart Murmurs	Associate	19356534
Heart Septal Defects	Associate	25335496
Hypertrophy	Associate	20433692, 25123604, 28694399, 29641836, 34542152, 37802074
Hypertrophy	Inhibit	27620334
Hypertrophy Left Ventricular	Associate	11499718, 12117842, 19356534, 21835286, 22569109, 25123604, 26267065, 27259862, 30976029
Immunoglobulin G4 Related Disease	Associate	22857948
Ischemic Attack Transient	Associate	18957093
LEOPARD Syndrome	Associate	29641836
Melanoma	Associate	31308438
Metabolic Syndrome	Associate	35177841
Microvascular Angina	Associate	22021246
Mitral Valve Insufficiency	Associate	27259862
Neoplastic Syndromes Hereditary	Associate	27173948
Noncompaction of Left Ventricular Myocardium Familial Isolated Autosomal Dominant 1	Associate	25335496, 26163040, 36011256
Noonan Syndrome	Associate	32824488
Paroxysmal ventricular fibrillation	Associate	37949661
Platelet Disorder Familial with Associated Myeloid Malignancy	Associate	36744470
Sarcoidosis	Associate	36011256
Shock Cardiogenic	Associate	34853230
Stroke	Associate	18957093, 33782553
Tachycardia Ventricular	Associate	20605413
Ventricular Dysfunction	Associate	31199839
Ventricular Dysfunction Left	Associate	12628722, 16256878, 19356534, 20605413, 21915287, 23197398, 29447731, 34542152
Ventricular Fibrillation	Associate	24119082
Ventricular Outflow Obstruction Left	Associate	21799269
Ventricular Remodeling	Associate	16256878, 21915287
Vulvovaginitis Allergic Seminal	Associate	30700234