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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Arrhythmogenic right ventricular cardiomyopathy	Likely pathogenic; Pathogenic	rs397515925	RCV003447480	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Asymmetric septal hypertrophy	Likely pathogenic; Pathogenic	rs397516068	RCV001251034	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Pathogenic; Likely pathogenic	rs752104988, rs1060499604, rs397515897, rs1252584025, rs2142856598, rs2142856521, rs2142869406, rs2142853009, rs2142851672, rs1219818351, rs2142860924, rs367729718, rs587776699, rs587782958, rs2142857371, rs866966651, rs368765949, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727503166, rs111683277, rs727503195, rs397515912, rs397515905, rs727503203, rs727503212, rs730880336, rs730880362, rs1214223476, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs397515979, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs786204339, rs786204336, rs2495736362, rs2495755085, rs863225113, rs863225106, rs864622224, rs869025469, rs876657705, rs727503213, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs2495775461, rs2495738531, rs2495740123, rs2495762628, rs397515991, rs1297181317, rs112917345, rs2495749440, rs2495786555, rs2495736462, rs2495739957, rs2495742173, rs2473150513, rs2495763202, rs2495771025, rs2495774106, rs1320775536, rs2495782142, rs2495786601, rs779650200, rs1060501484, rs1060501479, rs977277400, rs1064793429, rs745811346, rs1444727212, rs36211723, rs387907267, rs794727046, rs1432810664, rs397515903, rs1555122928, rs397515893, rs397515894, rs397515896, rs375882485, rs397515907, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs397515982, rs397515990, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs1565631430, rs727504314, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs2095894178, rs2095877700, rs2095878612, rs2095879053, rs2095880923, rs2095883614, rs2095890370, rs2095898456, rs2095889992, rs2095898504, rs2095900581, rs2095900669, rs1419155559, rs2095883336, rs2095879886, rs2095877711, rs2095878223	RCV003236394 RCV004798923 RCV001799422 RCV001799424 RCV001799427 RCV001799428 RCV001799432 RCV001799434 RCV001799438 RCV003150460 RCV001844475 RCV003487012 RCV003149866 RCV001190183 RCV002269795 RCV002509824 RCV001179298 RCV003149936 RCV003149938 RCV000769308 RCV000769309 RCV001798469 RCV003531973 RCV000769314 RCV005402855 RCV005402852 RCV003486668 RCV000770364 RCV001171139 RCV000151139 RCV001798496 RCV000769355 RCV003149937 RCV000151057 RCV003149939 RCV001170951 RCV001170958 RCV000770365 RCV003149919 RCV001798471 RCV000158423 RCV003149955 RCV003533163 RCV001375509 RCV000158403 RCV000158483 RCV003531994 RCV000158398 RCV000158482 RCV000770327 RCV000158481 RCV001170202 RCV000158371 RCV000158479 RCV001798535 RCV000158477 RCV001798534 RCV001798533 RCV001187173 RCV001170953 RCV000158474 RCV005401342 RCV001176296 RCV001171147 RCV000158426 RCV001177094 RCV001798532 RCV000770375 RCV001798530 RCV003149963 RCV005402862 RCV001191326 RCV001176081 RCV003150581 RCV003487042 RCV001171130 RCV001170420 RCV001798677 RCV003532053 RCV003486772 RCV001170206 RCV001181534 RCV001170957 RCV003486544 RCV001170416 RCV001797997 RCV001191915 RCV003150688 RCV003150775 RCV003150777 RCV003150780 RCV003154316 RCV003487233 RCV003487235 RCV003487237 RCV003487241 RCV003532573 RCV003532580 RCV003532585 RCV003532609 RCV003532616 RCV003532631 RCV003532635 RCV003532650 RCV005402097 RCV004018353 RCV003486824 RCV001170949 RCV001805066 RCV001805094 RCV001798856 RCV005401460 RCV003532137 RCV001188456 RCV003531907 RCV001179578 RCV001171149 RCV001805196 RCV000770368 RCV000770374 RCV001798080 RCV001525513 RCV005430948 RCV001798081 RCV001187169 RCV001171137 RCV001190403 RCV001189212 RCV001180068 RCV001188337 RCV001798082 RCV000770344 RCV001177884 RCV001420951 RCV001170427 RCV001170424 RCV001798083 RCV003330408 RCV001188336 RCV000158361 RCV001170419 RCV000158478 RCV001798084 RCV003486549 RCV005402811 RCV003531910 RCV001526044 RCV003531912 RCV005402812 RCV001170193 RCV001171135 RCV001176798 RCV001798086 RCV005402813 RCV001176298 RCV001171129 RCV003149619 RCV002222365 RCV000770322 RCV001804757 RCV001188335 RCV001170944 RCV003531914 RCV000769363 RCV001187127 RCV000769360 RCV001170211 RCV003149620 RCV003486552 RCV001176299 RCV001170208 RCV001798092 RCV000770376 RCV002228120 RCV003486553 RCV001170203 RCV000769364 RCV005401599 RCV000770325 RCV000770331 RCV000770339 RCV000770345 RCV000769323 RCV000769349 RCV000769350 RCV000770381 RCV005402969 RCV001170946 RCV001171127 RCV001171133 RCV001170195 RCV001170415 RCV001171140 RCV001170213 RCV001188412 RCV001178219 RCV001179502 RCV001186830 RCV001183100 RCV001201280 RCV001799050 RCV001799047 RCV001799053 RCV001799060	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1252584025, rs730880555, rs2142861729, rs2142867765, rs2142866326, rs2142859074, rs2142852888, rs2142853029, rs2142853009, rs2142860830, rs2142860924, rs2142869736, rs2142849399, rs587776699, rs2142862326, rs730880604, rs2142850736, rs730880650, rs2142864321, rs373730381, rs587782958, rs866966651, rs2495740224, rs368765949, rs727504289, rs727504305, rs727503172, rs727503180, rs727504333, rs727503182, rs727504265, rs727504334, rs727503192, rs727504287, rs200411226, rs727503204, rs573916965, rs367947846, rs730880335, rs727503166, rs111683277, rs727504349, rs727504293, rs727503195, rs111437311, rs397515912, rs397515905, rs727503203, rs727504269, rs727503211, rs727503212, rs397516073, rs1214223476, rs2495740202, rs2495738849, rs2495738246, rs730880702, rs730880598, rs730880699, rs730880592, rs397516020, rs730880720, rs730880672, rs730880670, rs730880666, rs11570112, rs730880657, rs730880655, rs730880653, rs730880652, rs730880651, rs730880647, rs730880713, rs730880546, rs727503197, rs730880644, rs730880640, rs730880712, rs730880542, rs730880541, rs730880539, rs730880538, rs730880710, rs730880533, rs730880531, rs397515890, rs2495783500, rs730880724, rs730880688, rs730880635, rs730880723, rs730880631, rs730880629, rs730880684, rs730880683, rs375607980, rs730880618, rs730880704, rs730880703, rs730880698, rs2495740196, rs2495740075, rs2495737667, rs2495737827, rs2495736043, rs2495780114, rs2495780899, rs2495764295, rs2495775259, rs1439623464, rs2495763967, rs2495762508, rs1337113054, rs759826878, rs2495762791, rs2095889088, rs2495754771, rs2495749637, rs2495749625, rs2495746525, rs2495756497, rs2495756385, rs2495750440, rs2495756173, rs2495786486, rs2095884867, rs2495785913, rs2495744494, rs2495742629, rs2495786759, rs786204339, rs786204338, rs786204336, rs786204329, rs397516068, rs2495738554, rs2495752203, rs1595842632, rs2495746259, rs863225107, rs863225113, rs863225104, rs863225112, rs863225106, rs863225272, rs190228518, rs2495770501, rs869025469, rs869025461, rs876657705, rs876657703, rs727503213, rs193922384, rs121909374, rs121909377, rs2856655, rs387906397, rs876661365, rs878853831, rs397515894, rs2495738531, rs2142864164, rs1400905582, rs2495754785, rs2495775452, rs397516070, rs886037900, rs886038822, rs886039028, rs2495750255, rs2495736329, rs2495783948, rs2495736417, rs2495749850, rs2495763359, rs2495761294, rs2495754669, rs2495750393, rs2495749552, rs1265547595, rs2495742763, rs2495780602, rs1057517920, rs1057517766, rs1057517767, rs1057517939, rs1057518030, rs1060501474, rs1060501475, rs1060499604, rs1064793202, rs1555120927, rs745811346, rs1085307897, rs1114167419, rs1555121145, rs1555121924, rs373792537, rs1444727212, rs36211723, rs187830361, rs193922383, rs193922386, rs387907267, rs794727046, rs764743402, rs1555120258, rs397516022, rs1298025872, rs767039057, rs1555120529, rs1555120956, rs1555121247, rs1555121331, rs774521272, rs1555121871, rs1555121907, rs1555122156, rs1555122196, rs1555122462, rs1555123138, rs1555123473, rs1555123496, rs1555123597, rs1555121467, rs1555123743, rs397515891, rs397515893, rs397515897, rs397515903, rs375882485, rs397515907, rs397515910, rs397515916, rs397515925, rs397515926, rs397515935, rs397515937, rs397515947, rs397515948, rs111729952, rs397515960, rs397515963, rs397515972, rs397515975, rs397515990, rs397515991, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516023, rs397516031, rs397516032, rs397516037, rs397516040, rs397516044, rs397516049, rs397516059, rs397516061, rs397516067, rs397516072, rs397516074, rs397516080, rs201078659, rs397516082, rs1555122053, rs1565622952, rs1565627536, rs1565631428, rs190765116, rs1265248322, rs1419032418, rs1565627110, rs1565624196, rs112999777, rs112917345, rs1595845204, rs1025692267, rs1595843828, rs113709679, rs2095900581, rs1419155559, rs2095879886, rs2095890455, rs1233894123, rs398123279	RCV004037635 RCV002413923 RCV004037653 RCV005405585 RCV005385119 RCV002414266 RCV002440840 RCV004040018 RCV002440880 RCV004040929 RCV002388690 RCV005405792 RCV002352637 RCV004019720 RCV005375016 RCV003303496 RCV003375491 RCV005405793 RCV002370399 RCV002407191 RCV000620265 RCV004651968 RCV005405882 RCV002453476 RCV000619606 RCV002321634 RCV000587552 RCV005400705 RCV002433674 RCV002433650 RCV002433673 RCV002426737 RCV002415640 RCV000620866 RCV000589860 RCV005672322 RCV005400708 RCV000242648 RCV005404276 RCV000621300 RCV000620737 RCV002433675 RCV000619467 RCV000248201 RCV000617635 RCV000249319 RCV002390322 RCV002381469 RCV002453506 RCV000622199 RCV000617562 RCV002426752 RCV002443379 RCV002324791 RCV002454820 RCV002322860 RCV002459023 RCV002345535 RCV003372628 RCV004984697 RCV002336353 RCV002453540 RCV002453538 RCV003298180 RCV002321664 RCV002326232 RCV003298179 RCV004019909 RCV002433697 RCV005443029 RCV004019912 RCV000620524 RCV004639152 RCV003162661 RCV005384661 RCV000618015 RCV002399567 RCV005443028 RCV005445841 RCV002399572 RCV005404288 RCV002390378 RCV002394473 RCV002390377 RCV002390376 RCV005372248 RCV002385577 RCV004019907 RCV002372030 RCV002336354 RCV002355156 RCV002354388 RCV002433698 RCV005400711 RCV005404289 RCV002336352 RCV002372032 RCV002372033 RCV006342139 RCV004019911 RCV002326898 RCV002326899 RCV004019913 RCV006342142 RCV002324801 RCV002445716 RCV002339839 RCV002455271 RCV002351176 RCV002364316 RCV002344452 RCV002375826 RCV002427969 RCV002371173 RCV002387939 RCV002398509 RCV002398545 RCV002380998 RCV002402979 RCV002404011 RCV002423887 RCV002431100 RCV002455626 RCV002452960 RCV002421533 RCV002421727 RCV002457717 RCV002417398 RCV002424335 RCV002446235 RCV002446358 RCV002428501 RCV002441652 RCV002442333 RCV002435602 RCV004020012 RCV002387966 RCV002354412 RCV005404300 RCV002362864 RCV004064966 RCV003170731 RCV003308354 RCV005382517 RCV004649095 RCV004649096 RCV004639175 RCV004639176 RCV000618778 RCV004020488 RCV002381693 RCV004068532 RCV002321823 RCV004649097 RCV005404410 RCV005372264 RCV002427004 RCV000620220 RCV000247235 RCV000621059 RCV002453253 RCV002321477 RCV004020713 RCV000620784 RCV002365175 RCV005377345 RCV003181469 RCV003168177 RCV003181471 RCV003181472 RCV003216312 RCV004020989 RCV000246815 RCV000247453 RCV003301247 RCV003301251 RCV004371672 RCV004985487 RCV004451524 RCV004522982 RCV004522984 RCV004522988 RCV004522990 RCV004522992 RCV004522995 RCV004522996 RCV004523004 RCV003372699 RCV005372302 RCV000621784 RCV003372700 RCV002450953 RCV002379314 RCV002446801 RCV006342284 RCV000619126 RCV002323816 RCV002431392 RCV002374881 RCV002367665 RCV004649177 RCV004639251 RCV006342316 RCV002456007 RCV002420305 RCV000252505 RCV000621159 RCV000253851 RCV002371794 RCV000248559 RCV002448599 RCV005443107 RCV002413686 RCV000619318 RCV000621503 RCV000621079 RCV000617726 RCV000621325 RCV000620067 RCV000619381 RCV000619508 RCV000620777 RCV000619147 RCV000619974 RCV000621029 RCV000619209 RCV000621493 RCV000619020 RCV000621993 RCV000621634 RCV000621277 RCV000620438 RCV005627869 RCV005404762 RCV004984652 RCV002362617 RCV000587876 RCV004984653 RCV000620030 RCV000620109 RCV000252398 RCV000247256 RCV003372598 RCV002399369 RCV000249084 RCV000586702 RCV000620475 RCV004984654 RCV000250981 RCV003352753 RCV003162299 RCV000242393 RCV000250882 RCV000245146 RCV005403735 RCV000590598 RCV000589120 RCV000619925 RCV005403736 RCV000619311 RCV000619688 RCV002444468 RCV000251587 RCV000252468 RCV000247970 RCV000248382 RCV003372600 RCV000621528 RCV000620108 RCV003162302 RCV000588073 RCV002362618 RCV000618617 RCV002326724 RCV002345274 RCV003298050 RCV000243856 RCV000617271 RCV002362621 RCV000250001 RCV000249601 RCV000247227 RCV003298051 RCV005403738 RCV000619499 RCV002404720 RCV004026598 RCV002397483 RCV002325366 RCV004027156 RCV004649309 RCV004027173 RCV002406691 RCV002440599 RCV004027366 RCV005400747 RCV005405347 RCV005405348 RCV004030255 RCV002427450 RCV005372565 RCV002429819 RCV002321997 RCV004033529 RCV005405555 RCV005400757 RCV002399468	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dilated cardiomyopathy 1A	Likely pathogenic	rs863224899	RCV000200036	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1I	Likely pathogenic; Pathogenic	rs397516037	RCV003390723	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
hypertrophic cardiomyopathie	Pathogenic	rs780012957	RCV006249514	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs2095879885, rs2095885868, rs2095879167, rs1252584025, rs2142861325, rs2142869314, rs2142849434, rs2142850286, rs1565622952, rs2142853045, rs752104988, rs730880696, rs2095886347, rs2142859289, rs730880555, rs2095889156, rs730880545, rs1415753419, rs2142861512, rs2142861729, rs2142864164, rs2142866256, rs2142867765, rs2142867855, rs771005018, rs1555123597, rs2142868794, rs767239679, rs2142859074, rs2142850484, rs2142853009, rs2142850797, rs2142860830, rs2142859053, rs2142860924, rs2142865197, rs1410935154, rs977277400, rs2142862199, rs2142855351, rs1595847941, rs2142851443, rs2142850980, rs367729718, rs2142850741, rs2142851045, rs2142869736, rs1057518030, rs2142852944, rs2142849399, rs2142867804, rs587776699, rs2142861454, rs2142857362, rs573821685, rs2142862326, rs730880604, rs2142868665, rs2142859359, rs2142855105, rs2142851321, rs1409755826, rs2142850807, rs2142852868, rs1219930764, rs746770543, rs2142850736, rs936188645, rs2142859071, rs2142849315, rs185449721, rs1223603416, rs730880650, rs2142864321, rs2142865199, rs373730381, rs2142851880, rs2142861940, rs587782958, rs866966651, rs368765949, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs397515974, rs730880341, rs727504293, rs727503195, rs111437311, rs397515912, rs397515905, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs397516073, rs727503217, rs727503219, rs730880366, rs727503220, rs1468812059, rs730880336, rs730880337, rs730880362, rs1214223476, rs730880605, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs397516020, rs730880675, rs730880720, rs387906397, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs397515979, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs2495740196, rs2495737667, rs2495764295, rs759826878, rs2095889088, rs2495749637, rs2495746525, rs2495756497, rs2095884867, rs2495741473, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs397516068, rs2495736362, rs2095880858, rs2495749375, rs1555122053, rs1457904408, rs2495785981, rs767698543, rs869025469, rs2495736079, rs2495755085, rs2495763527, rs2495759765, rs2495763599, rs1420109925, rs730880620, rs2495738724, rs2495738554, rs2495752548, rs2495765760, rs2495781872, rs2495761423, rs2495762188, rs2495780934, rs2495744610, rs2495783412, rs2495746502, rs2495752203, rs1595842632, rs863224483, rs2495746259, rs2495759901, rs863224899, rs863225107, rs863225113, rs863225105, rs863225112, rs863225106, rs863225271, rs2495783909, rs2495740476, rs2495760022, rs2495783370, rs2495769395, rs2495770501, rs2495776914, rs2495781820, rs2495746800, rs2495744364, rs2495764162, rs2495752024, rs755983199, rs2495763269, rs2495752429, rs2495761138, rs864622224, rs869025461, rs397515910, rs869025465, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs878853831, rs397515894, rs1400905582, rs886037900, rs886037902, rs886038822, rs2495762572, rs2495738634, rs2495780509, rs2495744443, rs1555120359, rs2495742791, rs2495785783, rs2495761341, rs2495738769, rs2495741409, rs2495780577, rs2495780650, rs2495736211, rs751637847, rs2495765804, rs2495771043, rs1565630293, rs2495737867, rs2495755972, rs2495749748, rs1565629792, rs2495783722, rs2495733080, rs2495777036, rs2495756454, rs2495738176, rs2495749773, rs2095896008, rs2495770958, rs2495780419, rs2495736462, rs2495742173, rs2473150513, rs2495771025, rs2495774106, rs1320775536, rs2495783781, rs2495754560, rs113709679, rs2495780395, rs2495783948, rs2495776642, rs2495736417, rs2495738884, rs2495780121, rs2495776992, rs2495749953, rs2495749896, rs2495742646, rs2495736234, rs2495746816, rs2495742730, rs2495744526, rs2495761254, rs2495752414, rs780012957, rs2495755909, rs113276889, rs2495782142, rs397516074, rs1206030542, rs1565631856, rs1565631849, rs2495742220, rs2495750437, rs1057517766, rs1057517767, rs779650200, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1060501474, rs1064792936, rs36211723, rs1060501475, rs1060501479, rs1060499604, rs1064796231, rs1064793202, rs1064793429, rs771929829, rs745811346, rs1555123389, rs1555120920, rs1555121924, rs1555121488, rs373792537, rs1444727212, rs187830361, rs193922383, rs193922386, rs387907267, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1432810664, rs1555122188, rs764743402, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555122928, rs1555123743, rs397515888, rs397515889, rs397515891, rs397515893, rs397515895, rs397515896, rs397515897, rs397515903, rs375882485, rs397515907, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515975, rs397515977, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516070, rs397516072, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs1555120651, rs868819340, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1565624090, rs1565625777, rs1565631428, rs1565627566, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1565623216, rs1265248322, rs1419032418, rs1565627615, rs1595843640, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1299079662, rs1595848628, rs1595849603, rs1595850762, rs1595842238, rs1595845204, rs1025692267, rs2095879705, rs1595843828, rs1595841552, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs2095893477, rs2095894178, rs2095877700, rs2095900581, rs1419155559, rs761545914, rs2095883336, rs2095889815, rs2095899755, rs2095879886, rs2095890510, rs2095877711, rs2095878299, rs2095891398, rs2095896870, rs2095887873, rs2095898569, rs2095881691, rs1233894123, rs2095877685, rs398123279	RCV001328484 RCV001328483 RCV001379739 RCV001378555 RCV001377836 RCV001379974 RCV001381666 RCV001386053 RCV001388409 RCV001387279 RCV004017976 RCV001387603 RCV001382849 RCV001391028 RCV001390708 RCV001381868 RCV001381869 RCV001381870 RCV001388296 RCV001381871 RCV001388298 RCV001385251 RCV001383239 RCV001382255 RCV001383985 RCV001390014 RCV001387242 RCV002568280 RCV002568377 RCV001866264 RCV002227542 RCV003586313 RCV001885236 RCV005057637 RCV003748365 RCV005095223 RCV001885396 RCV001896038 RCV001924140 RCV001979403 RCV001999735 RCV001939455 RCV001996459 RCV001875693 RCV001899891 RCV001900054 RCV001970098 RCV001970130 RCV001950881 RCV001950900 RCV001982654 RCV001987807 RCV001996676 RCV000467263 RCV001892314 RCV001900829 RCV001993310 RCV002036009 RCV002000071 RCV001994718 RCV001872809 RCV001941993 RCV001989121 RCV002037469 RCV001880672 RCV001972440 RCV001942308 RCV001883224 RCV001956066 RCV001887023 RCV001927651 RCV001951465 RCV002033661 RCV002020838 RCV001959031 RCV001907881 RCV001951552 RCV001963277 RCV001983079 RCV002021156 RCV000227910 RCV003101559 RCV000206843 RCV000154451 RCV000211826 RCV000211823 RCV000808027 RCV000154354 RCV000540054 RCV000151075 RCV000151078 RCV000151080 RCV000154619 RCV000844681 RCV000154442 RCV000151085 RCV000229407 RCV000151088 RCV000151091 RCV000151093 RCV000154225 RCV000211805 RCV000465441 RCV000811791 RCV000151111 RCV000154502 RCV000154220 RCV000536227 RCV000168090 RCV000464484 RCV000230399 RCV000211796 RCV000844686 RCV000154309 RCV000151146 RCV000154272 RCV000628841 RCV000154552 RCV000156319 RCV000154279 RCV000628934 RCV000696690 RCV000211814 RCV000535474 RCV000211809 RCV000154510 RCV000154489 RCV000234262 RCV000211801 RCV000497973 RCV000707508 RCV000628923 RCV000543508 RCV000470088 RCV000685552 RCV000154284 RCV000156620 RCV000691292 RCV000151145 RCV000475261 RCV000470757 RCV000211831 RCV000151164 RCV000497448 RCV000156505 RCV000151171 RCV005096122 RCV000211787 RCV000154325 RCV000156329 RCV005096195 RCV005089778 RCV000797019 RCV001056155 RCV000459464 RCV001850211 RCV000217718 RCV002515068 RCV000628981 RCV000628980 RCV003748193 RCV000689565 RCV000532325 RCV000768479 RCV000603322 RCV001045530 RCV000686721 RCV002515065 RCV003586150 RCV001388605 RCV001850208 RCV000808796 RCV003586152 RCV000628850 RCV000768474 RCV001219377 RCV001061018 RCV000538585 RCV000551352 RCV001041524 RCV000475465 RCV001044474 RCV001065541 RCV001043629 RCV000628972 RCV000629009 RCV000459152 RCV000226667 RCV000509093 RCV000705415 RCV003586149 RCV003095170 RCV002516377 RCV003998344 RCV001376918 RCV001222693 RCV000540594 RCV001384835 RCV001245349 RCV001381872 RCV000456333 RCV000230998 RCV001386924 RCV001049400 RCV000703568 RCV002516382 RCV005089779 RCV005203626 RCV002515067 RCV001857564 RCV000794469 RCV002516381 RCV001385759 RCV001203794 RCV001850214 RCV003586153 RCV003748194 RCV000219427 RCV000537938 RCV001381908 RCV005089780 RCV003749120 RCV003586328 RCV003748380 RCV003748403 RCV005250247 RCV003100828 RCV003101893 RCV003748445 RCV003586366 RCV003748436 RCV002569359 RCV003587401 RCV000559279 RCV003095016 RCV001089608 RCV000768464 RCV002515191 RCV003062364 RCV003037387 RCV003058307 RCV003037390 RCV003062372 RCV003058310 RCV002619848 RCV005058885 RCV002701343 RCV002771442 RCV002801500 RCV002811413 RCV002818998 RCV002810072 RCV002815984 RCV002811971 RCV002835073 RCV002825585 RCV002825640 RCV002857453 RCV002853172 RCV002881303 RCV002847238 RCV002857768 RCV002871418 RCV002933030 RCV002947327 RCV002975300 RCV002948010 RCV000200586 RCV002963347 RCV003002008 RCV003748206 RCV001853228 RCV002517307 RCV003765298 RCV001041656 RCV001089632 RCV001209345 RCV003018315 RCV003026178 RCV003012533 RCV003016680 RCV003037744 RCV003020770 RCV003015683 RCV003042134 RCV003026783 RCV003035192 RCV003030576 RCV003055357 RCV003049323 RCV003049559 RCV003039865 RCV003027753 RCV003063756 RCV003063933 RCV000204099 RCV001853310 RCV002517399 RCV001853309 RCV000699273 RCV000215999 RCV000809853 RCV000812207 RCV000217183 RCV000768509 RCV000463609 RCV000199033 RCV000628863 RCV000525220 RCV001040124 RCV000230753 RCV000229377 RCV000228088 RCV003586389 RCV000768470 RCV000768467 RCV003586173 RCV001385587 RCV005103897 RCV003586645 RCV003586483 RCV003586561 RCV003586666 RCV003586621 RCV003586697 RCV003587011 RCV003586736 RCV003586753 RCV003587028 RCV003587552 RCV003587554 RCV003587402 RCV003587405 RCV003587406 RCV003587407 RCV003587408 RCV003587863 RCV003587647 RCV003587670 RCV003587882 RCV003587780 RCV003587833 RCV003587990 RCV003588049 RCV003588014 RCV003587917 RCV003588002 RCV003588008 RCV003588057 RCV004011502 RCV004011505 RCV004011509 RCV004011510 RCV004011512 RCV004011513 RCV003748566 RCV003749256 RCV003749270 RCV003749518 RCV003749482 RCV003749903 RCV003749564 RCV003749828 RCV003749844 RCV003749862 RCV003749907 RCV003750037 RCV003750000 RCV003750031 RCV003750061 RCV003750284 RCV003750260 RCV003750172 RCV003747908 RCV003747867 RCV003747868 RCV003749114 RCV003832927 RCV003879690 RCV004013425 RCV004018097 RCV004018242 RCV004018243 RCV004018344 RCV004018352 RCV003586177 RCV001861410 RCV001254771 RCV003586179 RCV005090721 RCV000460163 RCV000460566 RCV000469319 RCV000466875 RCV000473072 RCV000473120 RCV000461880 RCV000460781 RCV000475849 RCV000458057 RCV000702923 RCV001223853 RCV000697578 RCV001379446 RCV004017636 RCV000694565 RCV001238841 RCV001865555 RCV001213311 RCV001387628 RCV005091069 RCV003586190 RCV002525177 RCV001227424 RCV000205565 RCV000228493 RCV000549683 RCV000844687 RCV000471886 RCV000552292 RCV000539701 RCV000542022 RCV000555776 RCV000531931 RCV000551073 RCV001293108 RCV003586195 RCV001381034 RCV005091586 RCV001254764 RCV001221592 RCV001390887 RCV001381667 RCV003748264 RCV005091794 RCV001868103 RCV001381708 RCV003748266 RCV003767819 RCV003586211 RCV004807048 RCV000791817 RCV000035372 RCV000844685 RCV000555457 RCV000458315 RCV000168331 RCV000035383 RCV000628889 RCV000815508 RCV000035398 RCV000466543 RCV000203913 RCV000168303 RCV000844683 RCV000035416 RCV000168451 RCV000035427 RCV000461041 RCV000628851 RCV000035446 RCV000035448 RCV000528888 RCV000539201 RCV000229899 RCV000805978 RCV000628854 RCV000035461 RCV000232610 RCV000204303 RCV000211802 RCV000768471 RCV000473746 RCV000230791 RCV000469704 RCV000844682 RCV000198895 RCV000461443 RCV000232323 RCV000035500 RCV000035502 RCV000035503 RCV000629027 RCV000546675 RCV000473384 RCV000035514 RCV000197345 RCV000818526 RCV000225856 RCV000195678 RCV000035538 RCV000547495 RCV000035544 RCV000211813 RCV000035556 RCV000628946 RCV000529897 RCV000533067 RCV000168202 RCV000470975 RCV000690167 RCV000543867 RCV000844680 RCV000197890 RCV000793517 RCV000035589 RCV000211824 RCV000464319 RCV000035593 RCV000696978 RCV000231140 RCV000700151 RCV000628855 RCV000035608 RCV000168193 RCV000541446 RCV000466712 RCV000701771 RCV000035624 RCV000693262 RCV000475909 RCV000035639 RCV000536316 RCV000035645 RCV000467369 RCV000035650 RCV000701586 RCV000232070 RCV000525151 RCV000204012 RCV000168401 RCV000205517 RCV000035671 RCV000768466 RCV000488321 RCV000628867 RCV000531021 RCV000473914 RCV000035690 RCV000629004 RCV000628985 RCV000628982 RCV000629020 RCV000693464 RCV000702518 RCV000703977 RCV000694643 RCV000706061 RCV000688079 RCV000689453 RCV000688183 RCV000706301 RCV000699078 RCV000701680 RCV000705747 RCV000687953 RCV000691096 RCV000768481 RCV000768475 RCV000768473 RCV000768472 RCV000768469 RCV000768465 RCV000768463 RCV000768462 RCV000768478 RCV000768477 RCV000768476 RCV000768468 RCV001226745 RCV001386914 RCV001869212 RCV000806832 RCV000822781 RCV000810564 RCV000807970 RCV000791587 RCV000812285 RCV000820226 RCV000810619 RCV000805641 RCV000812390 RCV000826179 RCV000826180 RCV001093569 RCV000853409 RCV000853410 RCV000855399 RCV001093567 RCV000999594 RCV000999574 RCV003586261 RCV001055717 RCV001071231 RCV001065426 RCV001053383 RCV001036849 RCV001062174 RCV001062699 RCV001048171 RCV001054528 RCV001067656 RCV001045995 RCV005093449 RCV001089611 RCV005093720 RCV003586277 RCV001876083 RCV001222886 RCV001211568 RCV001211735 RCV001210227 RCV001202208 RCV001208150 RCV001211037 RCV001220640 RCV001227766 RCV001229197 RCV001232864 RCV001237790 RCV001233457 RCV001237680 RCV001241960 RCV001244444 RCV001232927 RCV001879964 RCV001880153 RCV000629016	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy 1	Pathogenic; Likely pathogenic	rs730880649, rs2495759571, rs863225272, rs863225271, rs190228518, rs121909374, rs397515905, rs375882485, rs112738974, rs397515970, rs397515982, rs397515992, rs2095890455	RCV000201914 RCV002463987 RCV000201872 RCV000201912 RCV000201869 RCV000201915 RCV000584783 RCV000584810 RCV001256692 RCV000201921 RCV003147315 RCV000201916 RCV001256766	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy 4	Pathogenic; Likely pathogenic	rs730880696, rs1060499604, rs2142850797, rs2142856729, rs1219818351, rs2142860830, rs2142869802, rs2142859053, rs1410935154, rs587776699, rs2142855105, rs185449721, rs587782958, rs2142860329, rs2142849245, rs760491068, rs2142861049, rs2142865708, rs2495735937, rs730880640, rs2495749842, rs2495740224, rs368765949, rs727504289, rs727503172, rs727504265, rs727503192, rs727504366, rs727504287, rs200411226, rs727503204, rs573916965, rs727503166, rs111683277, rs730880341, rs727503195, rs111437311, rs397515912, rs397515905, rs727503202, rs727503203, rs727504269, rs727503212, rs730880600, rs730880702, rs730880592, rs397516020, rs730880720, rs730880719, rs730880668, rs730880586, rs730880578, rs730880653, rs730880651, rs730880644, rs730880544, rs730880637, rs730880635, rs730880686, rs730880684, rs375607980, rs730880618, rs730880677, rs730880704, rs730880703, rs730880698, rs2495738531, rs786204352, rs786204339, rs786204336, rs786204329, rs2495736362, rs1595842632, rs863224483, rs2495746259, rs863224899, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs190228518, rs869025461, rs869025468, rs869025465, rs869025459, rs727503213, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs2495736532, rs2495765762, rs2495755876, rs1222795773, rs2495752399, rs2495783474, rs1565631094, rs886037900, rs886037902, rs886037901, rs2495764042, rs2495780708, rs2495764248, rs2495762572, rs2495744499, rs1565623533, rs2495781550, rs2495749193, rs1383067193, rs1247143185, rs2495738577, rs2495736235, rs2495783722, rs2495782142, rs2495759181, rs1060499673, rs1060501474, rs1064792936, rs977277400, rs1114167419, rs1555120300, rs1555121488, rs1444727212, rs36211723, rs187830361, rs193922386, rs387907267, rs373792537, rs1432810664, rs397515903, rs1555122928, rs727504334, rs397515889, rs397515893, rs397515897, rs375882485, rs397515907, rs397515916, rs397515925, rs397515926, rs397515937, rs397515943, rs397515947, rs112738974, rs111729952, rs397515963, rs397515966, rs397515973, rs397515974, rs397515977, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515997, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516013, rs373746463, rs397516022, rs397516029, rs397516037, rs397516038, rs397516040, rs397516044, rs397516047, rs397516052, rs397516059, rs397516061, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516077, rs397516080, rs397516082, rs397516083, rs397516056, rs1565629792, rs774316050, rs1419032418, rs1565624196, rs1595846398, rs1595840648, rs1595841736, rs1595845204, rs113276889, rs1025692267, rs397514752, rs1595841206, rs1595844714, rs1595843828, rs113709679, rs1595849742, rs730880641, rs2095893477, rs2095894178, rs2095877700, rs1419155559, rs2095891398, rs2095890455, rs2095881732, rs2095877685, rs397516057, rs2095878223, rs398123279	RCV001810047 RCV001733690 RCV001807950 RCV001808044 RCV001808178 RCV001808198 RCV001808256 RCV001809183 RCV005868454 RCV000009149 RCV003985026 RCV002486546 RCV000625072 RCV002250887 RCV002250923 RCV002250967 RCV002251101 RCV002251838 RCV002283649 RCV002283692 RCV002283701 RCV002288450 RCV000201437 RCV003226219 RCV000151070 RCV005409626 RCV001257483 RCV001251170 RCV000201476 RCV000201509 RCV000614620 RCV000625311 RCV000600560 RCV000509397 RCV000154500 RCV003989331 RCV002243823 RCV003314567 RCV001265564 RCV003509498 RCV003152684 RCV002250578 RCV000851294 RCV003387438 RCV001808429 RCV004786421 RCV005054168 RCV004786428 RCV004786427 RCV006449359 RCV004796055 RCV003388831 RCV002492620 RCV004786425 RCV003246691 RCV004796054 RCV000201508 RCV005049435 RCV004786424 RCV006436684 RCV000615912 RCV004786423 RCV002051820 RCV003147373 RCV004786426 RCV005252778 RCV002283460 RCV002466807 RCV004786967 RCV004796060 RCV004786484 RCV000168752 RCV003323303 RCV004796747 RCV000201469 RCV003228109 RCV000200036 RCV000201500 RCV000201466 RCV000201482 RCV000201439 RCV000201455 RCV000201451 RCV000201498 RCV000201460 RCV000201490 RCV004786537 RCV004786554 RCV003333050 RCV004796103 RCV003152695 RCV004786569 RCV000009134 RCV000009139 RCV000009141 RCV000009143 RCV000009145 RCV000009147 RCV000009148 RCV000009150 RCV000009152 RCV003152834 RCV003152879 RCV003153010 RCV003153091 RCV003153190 RCV003153204 RCV003153224 RCV000240631 RCV000240632 RCV000240644 RCV003234615 RCV003234878 RCV003476887 RCV003315108 RCV003485924 RCV003323331 RCV003323332 RCV003323333 RCV003323334 RCV003330213 RCV003333608 RCV003335784 RCV003388819 RCV003484241 RCV004786972 RCV005871332 RCV003990742 RCV000449536 RCV005001987 RCV005416115 RCV000477839 RCV006249187 RCV000490813 RCV000501534 RCV000503166 RCV001809465 RCV000161126 RCV002477027 RCV000603903 RCV000030699 RCV004796240 RCV001809678 RCV000625026 RCV004788039 RCV000625575 RCV001258062 RCV002247422 RCV000656564 RCV004562226 RCV000677196 RCV000035407 RCV002286698 RCV003450662 RCV001258108 RCV000585656 RCV000009136 RCV004786296 RCV002466417 RCV000009140 RCV002466418 RCV000035487 RCV002251731 RCV000009142 RCV000035504 RCV005401294 RCV002504875 RCV001807750 RCV000035533 RCV000035537 RCV000606843 RCV005049404 RCV000625352 RCV001731477 RCV001198904 RCV006249570 RCV004558289 RCV003224118 RCV000515249 RCV000009137 RCV003314558 RCV000035601 RCV004786297 RCV000035610 RCV001807751 RCV002288531 RCV005234927 RCV003335065 RCV002482963 RCV000225364 RCV004786298 RCV001537862 RCV001807753 RCV005208121 RCV001807754 RCV000161125 RCV000009138 RCV000035677 RCV000609977 RCV000515159 RCV002251746 RCV004788127 RCV002466261 RCV003485640 RCV000770986 RCV000790428 RCV002283513 RCV000853239 RCV003227869 RCV005054280 RCV004789240 RCV000054804 RCV005054304 RCV005054292 RCV005054291 RCV005054298 RCV004789306 RCV001029818 RCV004789387 RCV004789379 RCV005054325 RCV005054326 RCV002466265 RCV004789434 RCV002290653 RCV005250169 RCV001257455 RCV001267668 RCV005622096 RCV001280842 RCV003485535	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Isolated Noncompaction of the Ventricular Myocardium	Likely pathogenic; Pathogenic	rs886037900	RCV001375644	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular hypertrophy	Likely pathogenic; Pathogenic	rs397516037	RCV000678715	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction	Likely pathogenic; Pathogenic	rs727503166, rs730880336	RCV000844679 RCV000845559	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction 1	Pathogenic	rs193922384, rs397515982	RCV002508917 RCV003483449	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction 10	Likely pathogenic; Pathogenic	rs587776699, rs1409755826, rs185449721, rs587782958, rs368765949, rs727504289, rs727503192, rs200411226, rs111683277, rs727503195, rs397515912, rs727503212, rs730880720, rs730880653, rs730880637, rs730880684, rs730880618, rs786204336, rs2495746259, rs869025468, rs869025465, rs193922384, rs121909374, rs121909377, rs2856655, rs387906397, rs1383067193, rs1060499604, rs36211723, rs187830361, rs373792537, rs397515897, rs397515905, rs375882485, rs397515907, rs397515916, rs397515925, rs397515937, rs111729952, rs397515963, rs397515982, rs397515990, rs397515992, rs397515997, rs113358486, rs397516013, rs373746463, rs397516022, rs397516037, rs397516052, rs397516068, rs397516073, rs397516074, rs397516080, rs397516083, rs1595843553, rs1248588905, rs1595850762, rs1595845204, rs1025692267, rs730880639, rs367947846, rs2095881732	RCV002498624 RCV006255208 RCV002486546 RCV000762845 RCV002478419 RCV003333033 RCV002498696 RCV000763243 RCV002478452 RCV005644524 RCV004796047 RCV003457646 RCV002287374 RCV002492620 RCV005049435 RCV002498787 RCV003333034 RCV002288775 RCV003228109 RCV003333051 RCV004796103 RCV002490342 RCV000505586 RCV002496311 RCV002490343 RCV002490344 RCV003333609 RCV000477839 RCV000515442 RCV002477027 RCV004796240 RCV002477064 RCV004562227 RCV001594377 RCV003333005 RCV002496528 RCV003457637 RCV000850018 RCV000515302 RCV002482958 RCV002496529 RCV002504875 RCV000054803 RCV002496534 RCV005049404 RCV002477068 RCV003224118 RCV000515249 RCV003333007 RCV002482961 RCV002482963 RCV002496537 RCV002288533 RCV000763244 RCV002490484 RCV000515159 RCV000787296 RCV000850019 RCV000850016 RCV003227869 RCV005049715 RCV001706718 RCV001262773 RCV001257455	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Left ventricular noncompaction cardiomyopathy	Likely pathogenic; Pathogenic	rs368765949, rs1595843553	RCV001263457 RCV002061133	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT syndrome	Likely pathogenic	rs2495774704	RCV003318440	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial disease	Pathogenic	rs727503203	RCV005621888	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYBPC3-related cardiomyopathies	Likely pathogenic; Pathogenic	rs727503195	RCV001731397	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYBPC3-related disorder	Likely pathogenic; Pathogenic	rs587782958, rs368765949, rs727504287, rs200411226, rs397515905, rs730880362, rs397516020, rs730880631, rs786204336, rs863225107, rs863225112, rs864622224, rs121909374, rs2856655, rs387906397, rs1383067193, rs2495742710, rs187830361, rs794727046, rs397515903, rs375882485, rs397515907, rs397515916, rs397515937, rs397515963, rs373746463, rs397516073, rs397516080	RCV004739466 RCV004551299 RCV004551332 RCV004551314 RCV004737233 RCV004737244 RCV004551357 RCV004724943 RCV004552940 RCV004553097 RCV004553098 RCV004553116 RCV003387501 RCV004739298 RCV004547470 RCV004548598 RCV004550670 RCV004549393 RCV004553170 RCV004549411 RCV003233081 RCV004739321 RCV004739322 RCV004549417 RCV004549420 RCV004737173 RCV004549435 RCV004549437	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs368765949, rs397515939, rs876657704, rs193922384, rs397515947, rs397515982, rs397516073	RCV001263457 RCV000157310 RCV000219838 RCV002508917 RCV000853466 RCV003483449 RCV001375643	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary familial hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs587782957, rs587782958, rs727503172, rs727504334, rs200411226, rs727503204, rs397515912, rs397515905, rs730880143, rs730880666, rs730880652, rs730880629, rs730880704, rs2095889088, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs397515910, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs876657705, rs193922384, rs121909374, rs2856655, rs387906397, rs2495775289, rs1555121488, rs36211723, rs187830361, rs193922383, rs193922386, rs1555123743, rs397515889, rs397515893, rs397515894, rs375882485, rs397515907, rs397515916, rs397515925, rs397515937, rs112738974, rs111729952, rs397515963, rs397515965, rs397515966, rs397515975, rs397515990, rs397515991, rs397516005, rs113358486, rs397516008, rs397516010, rs373746463, rs397516029, rs397516031, rs397516035, rs397516037, rs397516044, rs397516049, rs397516068, rs397516070, rs397516073, rs397516074, rs397516080, rs397516082, rs397516083, rs1555122053, rs398123279	RCV000143911 RCV000143916 RCV001263510 RCV002281967 RCV000171824 RCV000208143 RCV005241239 RCV001193929 RCV000157324 RCV006272134 RCV001264491 RCV000845481 RCV000845352 RCV003317602 RCV000208425 RCV000208403 RCV000208447 RCV000208213 RCV000208342 RCV000208230 RCV000208396 RCV000208299 RCV000208490 RCV000208286 RCV000208099 RCV000208292 RCV000208518 RCV000217959 RCV000030290 RCV000035424 RCV003319161 RCV003993741 RCV003319268 RCV000845529 RCV001804166 RCV000030283 RCV000030289 RCV000030293 RCV000627156 RCV000035373 RCV001420863 RCV006268093 RCV000035406 RCV002509185 RCV000035413 RCV002271383 RCV000211799 RCV002228152 RCV000157326 RCV000035478 RCV001193930 RCV000157312 RCV002222364 RCV000157328 RCV000208351 RCV000208060 RCV001269119 RCV000035563 RCV000035564 RCV004799756 RCV000208092 RCV001193928 RCV001194064 RCV000208235 RCV000845508 RCV000208463 RCV000208066 RCV002307373 RCV000035660 RCV000208413 RCV000845451 RCV000035668 RCV000208183 RCV000853176 RCV000208378 RCV003317306 RCV000208043	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SUDDEN INFANT DEATH SYNDROME	Pathogenic	rs397516073	RCV001787823	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of the cardiovascular system	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aganglionic megacolon	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis, hereditary systemic 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular dysplasia 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardiac arrest	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, dilated, 1MM	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, familial hypertrophic, 4, susceptibility to	risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR ABNORMALITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Catecholaminergic polymorphic ventricular tachycardia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Catecholaminergic polymorphic ventricular tachycardia 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Concentric hypertrophic cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL HEART DISEASE	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY TYPE 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
hyprtrophic cardiomyopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal atrial fibrillation	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Peripheral neuropathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
POLYMORPHIC CATECHOLERGIC VENTRICULAR TACHYCARDIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ventricular contraction	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial dilated cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prolonged QT interval	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden unexplained death	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	30413934	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	20359594, 33782553, 34400558, 35130036, 36835444, 37107598	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	27000522, 28843747, 31402444		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	28699631, 36136372	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis	Pubtator	26752647	Associate	★☆☆☆☆ Found in Text Mining only
Asymmetric Septal Hypertrophy	Septal Hypertrophy	BEFREE	22076249		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Asymmetric Septal Hypertrophy	Septal Hypertrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Fibrillation	Atrial Fibrillation	BEFREE	24093860, 26869393, 30354366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	24093860, 30371277, 32841044, 33782553, 37271167	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	BEFREE	22194935		★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	Pubtator	31524317	Associate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31595719	Associate	★☆☆☆☆ Found in Text Mining only
Biventricular hypertrophy	Biventricular hypertrophy	BEFREE	22907696		★☆☆☆☆ Found in Text Mining only
Blood Protein Disorders	Blood protein disorder	Pubtator	35893073	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	18403758, 34542152, 35717150	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	17937428, 18403758, 19151713, 19858127, 21415409, 21915287, 22194935, 22763267, 23140321, 23590259, 23716398, 24196566, 24602869, 25335496, 25892673, 26358504, 26508994, 27082122, 28090637, 28239655, 29641836, 30354366, 30924982, 31568709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	LHGDN	19151713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	19151713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	CTD_human_DG	19151713		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	29447731, 30371277, 30947911, 34853230, 35893073	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic Familial	Cardiomyopathy	Pubtator	10424815, 12117842, 20350521, 22112859, 22857948, 28498465, 28694399, 32841044, 35717150, 38104429, 38417376, 9218526, 9541104	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	26163040, 33803538, 36011256	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	15519027, 17081393, 20031602, 21750094, 22122802, 23549607, 24793961, 25351510, 27532257, 9562578		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	18957093, 20201939, 21750094, 26508994, 27955979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1MM	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 27532257		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)	Cardiomyopathy	CLINVAR_DG	10610770, 10736283, 11499718, 11499719, 12117842, 12707239, 14563344, 15519027, 16199542, 16831826, 16858239, 18403758, 18533079, 18761664, 18809796, 19150014, 19273718, 19356534, 19574547, 19659763, 20019025, 20031618, 20359594, 20378854, 20433692, 20505798, 20624503, 2073894, 20818890, 21239446, 21302287, 21839045, 22267749, 22563033, 22765922, 23299917, 23690394, 24093860, 24704860, 24810389, 25058872, 25335496, 25342278, 25524337, 25611685, 25740977, 27532257, 9048664, 9541104, 9562578, 9631872		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	12379228, 12628722, 15671604, 18957093, 20213437, 21750094, 21832052, 26458567, 26508994, 27955979, 29493010, 30279005		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	BEFREE	26163040, 29907873		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CLINVAR_DG	10424815, 10610770, 10736283, 11499718, 11499719, 11815426, 12110947, 12202917, 12628722, 12707239, 12788380, 12818575, 12951062, 12974739, 14563344, 15114369, 15166115, 15519027, 15563892, 15769446, 16199542, 16335287, 16679492, 16715312, 16858239, 17521870, 17937428, 18258667, 18273486, 18337725, 18403758, 18409188, 18467358, 18533079, 18761664, 18926831, 18929575, 18957093, 19150014, 19151713, 19273718, 19574547, 19590044, 19659763, 19808356, 19996403, 20019025, 20031602, 20031618, 20031619, 20128375, 20298698, 20378854, 20433692, 20439259, 20474083, 20505798, 20542340, 20624503, 20641121, 20800588, 21088121, 21302287, 21310275, 21415409, 21520333, 21551322, 21750094, 21817903, 21835286, 21839045, 21959974, 21985754, 22057632, 22112859, 22115648, 22267749, 22386539, 22462493, 22555271, 22569109, 22574137, 22765922, 22857948, 23074333, 23140321, 23233322, 23283745, 23396983, 23508784, 23549607, 23674513, 23690394, 23711808, 23782526, 23861362, 23980194, 24093860, 24111713, 24113344, 24327208, 24510615, 24704860, 24793961, 24810389, 25031304, 25078086, 25086479, 25228707, 25262865, 25281569, 25335496, 25351510, 25524337, 25611685, 25740977, 25849606, 26090888, 26267065, 26671970, 26914223, 2732257, 27483260, 27532257, 27600940, 27688314, 28087566, 28193612, 28356264, 28408708, 28450932, 28679633, 28771489, 28790153, 28797094, 28971120, 29121657, 31333075, 31568572, 31730716, 7493025, 7493026, 9048664, 9241277, 9562578, 9631872, 9742053		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	10610770, 12788380, 15114369, 15769446, 18467358, 19273718, 22127559, 22560514, 23508784, 29524613, 30456444, 7744002, 9048664, 9503187, 9631872		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CTD_human_DG	11815426, 23896226, 9241277		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC	Cardiomyopathy	BEFREE	18467358		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	33849460	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	26223264		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	26223264, 34400558	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24743703, 31245295		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25824771, 28982866, 30890168, 31245295		★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	20359594	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	18957093, 19151713, 20641121, 21915287, 24047589, 24196566, 29641836, 29663722, 29912321, 30279005, 31050699		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	21915287		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21915287		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	21915287	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	31524317	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	21915287		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27173948	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10424815, 12707239, 18533079, 21492761, 22464770, 23840593, 7493025		★☆☆☆☆ Found in Text Mining only
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	20201939, 20215591, 36011256	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	20215591		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Hypertrophic Cardiomyopathy Type 4	Hypertrophic cardiomyopathy	CLINVAR_DG	10424815, 10610770, 11499719, 12117842, 12601548, 12707239, 12881443, 12951062, 12974739, 14563344, 14613868, 15114369, 15358028, 15519027, 15563892, 15769446, 15856146, 16199542, 16335287, 16566405, 16831826, 16858239, 17560888, 17908752, 18337725, 18374358, 18403758, 18409188, 18414213, 18533079, 18929575, 18957093, 19150014, 19273718, 19356534, 19574547, 19808356, 19858127, 20031602, 20031618, 20045868, 20159828, 20173211, 20359594, 20378854, 20433692, 20474083, 20505798, 20530761, 20624503, 2073894, 20738943, 21185001, 21239446, 21302287, 21511876, 21835320, 21839045, 22057632, 22115648, 22267749, 22765922, 22907696, 23054336, 23283745, 23299917, 23396983, 23711808, 23782526, 23861362, 23980194, 24033266, 24093860, 24510615, 24793961, 25031304, 25210889, 25335496, 25342278, 25524337, 25611685, 25637381, 25740977, 25741868, 25856671, 25971843, 26090888, 27483260, 27532257, 27650965, 7493026, 8655135, 9048664, 9562578, 9631872		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Hypertrophic Cardiomyopathy Type 4	Hypertrophic cardiomyopathy	CLINGEN_DG	11230104, 11909824, 15249187, 18533079, 24464755, 26358504, 27532257, 7493025, 9440712, 9562578		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Hypertrophic Cardiomyopathy Type 4	Hypertrophic cardiomyopathy	UNIPROT_DG	11499718, 11499719, 11815426, 12379228, 12628722, 12707239, 12818575, 12951062, 12974739, 14563344, 15114369, 15519027, 15563892, 16004897, 16199542, 18403758, 18929575, 18957093, 23840593, 28265379, 7744002, 9048664, 9541104, 9541115, 9562578		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Hypertrophic Cardiomyopathy Type 4	Hypertrophic cardiomyopathy	GENOMICS_ENGLAND_DG	19858127, 20186049, 27532257, 30681346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Hypertrophic Cardiomyopathy Type 4	Hypertrophic cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	19151713	Associate	★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	37246080	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	27173948	Associate	★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	39838281	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	16566405, 28871043, 31356777, 7744002		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	21915287, 22178992, 27834932, 29654880, 30700234, 37498360	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	16256878, 18957093, 19151713, 20641121, 21915287, 23942052, 24119082, 25123604, 29641836, 29663722, 31524317, 32451163, 32841044, 33782553, 35306227, 36011256, 36403549, 36835444, 36980931, 37271167, 39851041	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	LHGDN	18573260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	18957093, 19151713, 20641121, 21915287, 24047589, 24196566, 29641836, 29663722, 29912321, 30279005, 31050699		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure Diastolic	Heart failure	Pubtator	22529996, 26267065	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure, Diastolic	Heart Failure	BEFREE	22529996, 24047589		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	BEFREE	25335496		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Congenital heart septal defect	Pubtator	25335496	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	193524, 3855405		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	10610770, 15114369, 15525659, 15769446, 193524, 7493025, 7744002, 9048664		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG	10424815, 10610770, 10736283, 11499718, 11499719, 11815426, 11835941, 11847170, 12110947, 12202917, 12386147, 12601548, 12628722, 12707239, 12787675, 12788380, 12818575, 12951062, 12974739, 14563344, 14613868, 15114369, 15519027, 15563892, 15671604, 15769446, 16061003, 16181148, 16199542, 16335287, 16566405, 16679492, 16715312, 16858239, 17081393, 17394878, 17908752, 17937428, 18258667, 18273486, 18374358, 18403758, 18409188, 18467358, 18533079, 18713777, 18761664, 18803133, 18809796, 18957093, 19150014, 19151713, 19273718, 19356534, 19574547, 19590044, 19659763, 19808356, 19858127, 20019025, 20031602, 20031618, 20031619, 20128375, 20159828, 20173211, 20201939, 20215591, 20359594, 20378854, 20414521, 20433692, 20439259, 20474083, 20505798, 20542340, 20624503, 20738943, 20800588, 20864638, 21088121, 21165360, 21239446, 21302287, 21310275, 21415409, 21425739, 21488307, 21551322, 21750094, 21817903, 21835286, 21835320, 21896538, 21915287, 21959974, 22112859, 22115648, 22122802, 22178992, 22267749, 22455086, 22563033, 22574137, 22589294, 22765922, 22857948, 22907696, 23054336, 23074333, 23140321, 23233322, 23283745, 23299917, 23396983, 23508784, 23527136, 23534983, 23549607, 23674513, 23690394, 23782526, 23861362, 23980194, 24033266, 24093860, 24111713, 24113344, 24510615, 24602869, 24704860, 24793961, 24810389, 24865491, 25031304, 25078086, 25086479, 25132132, 25228707, 25281569, 25335496, 25351510, 25443708, 25524337, 25525159, 25583989, 25611685, 25637381, 25740977, 25849606, 26090888, 26383716, 26671970, 26688216, 26914223, 27096365, 27108529, 27483260, 27532257, 27600940, 27737317, 27831900, 27834932, 27885498, 28024942, 28193612, 28241245, 28356264, 28420666, 28538763, 28615295, 28658286, 28679633, 28771489, 28790153, 28797094, 28971120, 29121657, 29255176, 2943217, 30165862, 7493025, 7493026, 9048664, 9218526, 9241277, 9503187, 9541100, 9541104, 9562578, 9631872		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	10736283, 11499719, 12110947, 12628722, 12974739, 15519027, 15563892, 15737656, 15819282, 16004897, 16087648, 16566405, 17290930, 17652099, 18258667, 18273486, 18337725, 18374358, 18803133, 18929575, 18957093, 19219553, 19356534, 19406073, 19574547, 19666196, 19808356, 20019025, 20045868, 20213437, 20350521, 20378854, 20433692, 20542340, 20624503, 20740642, 20800588, 21088121, 21165360, 21291890, 21302287, 21425739, 21750094, 21799269, 21832052, 21835286, 21839045, 22021246, 22057632, 22076249, 22178992, 22267749, 22314326, 22415774, 22555271, 22569109, 23140321, 23281406, 23363806, 23711808, 23716398, 23816408, 23840593, 24083979, 24183960, 24186209, 24327208, 24337823, 24835277, 24963656, 24981391, 25031304, 25037680, 25078086, 25086479, 25281569, 25463273, 25583989, 25740977, 26090888, 26178432, 26267065, 26343497, 26869393, 27000522, 27061026, 27160240, 27177834, 27267291, 27323879, 27620334, 27731493, 27737317, 28029522, 28090637, 28193612, 28450932, 28538763, 28614222, 28624223, 28642712, 28658286, 28699631, 28771489, 28794111, 29121657, 29361520, 29493010, 29524613, 29641836, 29663722, 29875314, 29907873, 29971600, 30012424, 30029588, 30170119, 30282064, 30316040, 30446606, 30456444, 30497761, 30550750, 30586709, 30600190, 30645170, 30668650, 30700234, 30896616, 30947911, 30959811, 30976029, 31050699, 31164718, 31170284, 31323898, 31347708, 31568709, 31730716, 31796859		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	11955864, 12110947, 15737656, 16004897, 18273486, 18337725, 18573260, 18803133, 18929575		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	22076249, 23816408, 25566086, 27994558		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	10736283, 15737656, 16004897, 17290930, 18273486, 18337725, 18374358, 19219553, 19406073, 19574547, 19666196, 20045868, 20433692, 20542340, 21088121, 21165360, 21832052, 21835286, 22021246, 22057632, 22314326, 22569109, 23140321, 23711808, 23816408, 23840593, 24183960, 24337823, 24981391, 25037680, 25078086, 25281569, 25463273, 25583989, 26090888, 26267065, 26869393, 27061026, 27177834, 27620334, 27731493, 27737317, 28193612, 28450932, 28658286, 28794111, 29641836, 29663722, 30029588, 30170119, 30316040, 30446606, 30456444, 30550750, 30586709, 30645170, 30668650, 30700234, 30896616, 30976029, 31730716		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	22076249, 23816408, 25566086, 27994558		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	20433692, 25123604, 28694399, 29641836, 34542152, 37802074	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	27620334	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	11499718, 12117842, 19356534, 21835286, 22569109, 25123604, 26267065, 27259862, 30976029	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic hypertrophic subaortic stenosis	Hypertrophic Subaortic Stenosis	CTD_human_DG	11815426, 23896226, 9241277		★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	18957093	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left Bundle-Branch Block	Left Bundle-Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	LHGDN	11955864		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	19356534, 26267065, 30497761, 30976029		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	CLINVAR_DG	27435932		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction	Left ventricular noncompaction	CLINVAR_DG	20031619		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction	Left ventricular noncompaction	ORPHANET_DG	21551322		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction	Left ventricular noncompaction	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction	Left ventricular noncompaction	BEFREE	24602869, 25335496, 30924982		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction	Left ventricular noncompaction	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEFT VENTRICULAR NONCOMPACTION 10	Ventricular Noncompaction	GENOMICS_ENGLAND_DG	20186049, 27532257, 30681346		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEFT VENTRICULAR NONCOMPACTION 10	Ventricular Noncompaction	UNIPROT_DG	20215591, 21551322		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEFT VENTRICULAR NONCOMPACTION 10	Ventricular Noncompaction	CLINVAR_DG	20433692, 22057632, 23299917, 9048664		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEFT VENTRICULAR NONCOMPACTION 10	Ventricular Noncompaction	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Left ventricular systolic dysfunction	Ventricular Systolic Dysfunction	BEFREE	23197398		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	Leopard syndrome	Pubtator	29641836	Associate	★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	17224687, 23590259		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT Syndrome	Long QT Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24743703, 31245295		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	17224687		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31308438	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	35177841	Associate	★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	22021246	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	19151713		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	27955979		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	19858127, 21915287		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25824771, 31245295		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Noncompaction cardiomyopathy	Noncompaction cardiomyopathy	BEFREE	30947911		★☆☆☆☆ Found in Text Mining only
Noncompaction cardiomyopathy	Noncompaction cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	32824488	Associate	★☆☆☆☆ Found in Text Mining only
Obstructive asymmetric septal hypertrophy	Obstructive Asymmetric Septal Hypertrophy	CTD_human_DG	11815426, 23896226, 9241277		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	37949661	Associate	★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	LHGDN	16651346		★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	BEFREE	26163040		★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	36011256	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septal hypertrophy	Septal Hypertrophy	BEFREE	22076249		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	18957093, 33782553	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	20605413	Associate	★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	27885498		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction	Ventricular dysfunction	Pubtator	31199839	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	12628722, 16256878, 19356534, 20605413, 21915287, 23197398, 29447731, 34542152	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	24119082	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	BEFREE	24047589, 9503187		★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	16256878, 21915287	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	31440271		★☆☆☆☆ Found in Text Mining only
Ventricular septal hypertrophy	Ventricular Septal Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only