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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: familial hypertrophic cardiomyopathy (MONDO:0024573)
..Starting node ..hypertrophic cardiomyopathy 4 ()
Child Nodes:
Sister Nodes:
..cardiomyopathy, familial hypertrophic 27 ()
..dilated cardiomyopathy 1C ()
..familial syndrome associated with hypertrophic cardiomyopathy ()
..fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy ()
..glycogen storage disease due to muscle and heart glycogen synthase deficiency ()
..glycogen storage disease III ()
..hypertrophic cardiomyopathy 1 ()
..hypertrophic cardiomyopathy 10 ()
..hypertrophic cardiomyopathy 11 ()
..hypertrophic cardiomyopathy 12 ()
..hypertrophic cardiomyopathy 13 ()
..hypertrophic cardiomyopathy 14 ()
..hypertrophic cardiomyopathy 15 ()
..hypertrophic cardiomyopathy 16 ()
..hypertrophic cardiomyopathy 17 ()
..hypertrophic cardiomyopathy 18 ()
..hypertrophic cardiomyopathy 19 ()
..hypertrophic cardiomyopathy 2 ()
..hypertrophic cardiomyopathy 20 ()
..hypertrophic cardiomyopathy 21 ()
..hypertrophic cardiomyopathy 25 ()
..hypertrophic cardiomyopathy 26 ()
..hypertrophic cardiomyopathy 3 ()
..hypertrophic cardiomyopathy 4 ()
..hypertrophic cardiomyopathy 6 ()
..hypertrophic cardiomyopathy 7 ()
..hypertrophic cardiomyopathy 8 ()
..hypertrophic cardiomyopathy 9 ()
..lysosomal disease with hypertrophic cardiomyopathy ()
..mitochondrial disease with hypertrophic cardiomyopathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7268

Name:

hypertrophic cardiomyopathy 4

Definition:

An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.

Alternative IDs:

115197

ParentIDs:

TreeNumbers:

Synonyms:

cardiomyopathy, familial hypertrophic, 4; cardiomyopathy, familial hypertrophic, 4, susceptibility to; cardiomyopathy, familial hypertrophic, 4; CMH4; cardiomyopathy, familial hypertrophic, type 4; CMH4; familial hypertrophic cardiomyopathy type 4; hypertrophic cardiomyopathy caused by mutation in M

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 115197;
MSeqDR :
Genes: MYBPC3; MYO5B;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001639	Hypertrophic cardiomyopathy NAMDC: Hypertrophic cardomyopathy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_004333.6(BRAF):c.2128-4_2129del	673	BRAF	Pathogenic	1131692058	RCV000495877;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	7	140434570	140434575	7:g.140434569_140434574del	ClinGen:CA645372452	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)	4607	MYBPC3	Pathogenic/Likely pathogenic	397516042	RCV000158271\|RCV000208264\|RCV000475268\|RCV000515345\|RCV000621330\|RCV000852435\|RCV001170942\|RCV001807752;	N	MedGen:CN517202\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:	11	47353626	47353626	11:g.47353626G>A	ClinGen:CA014956	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	727503166	RCV000151057\|RCV000600560\|RCV000621300\|RCV000628841\|RCV000844679\|RCV001706003;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|	11	47353661	47353661	NC_000011.9:g.47353661del	ClinGen:CA014863	C0878544 Cardiomyopathy;
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)	4607	MYBPC3	Pathogenic/Likely pathogenic	193922384	RCV000009134\|RCV000030290\|RCV000223778\|RCV000463609\|RCV000620220\|RCV001181534\|RCV002490342\|RCV002508917;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230	11	47353677	47353678	NC_000011.9:g.47353679_47353696dup	ClinGen:CA014796,OMIM:600958.0002	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	397516038	RCV000541446\|RCV001807751;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47353702	47353702	NC_000011.9:g.47353705del	ClinGen:CA014698	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter)	4607	MYBPC3	Pathogenic/Likely pathogenic	730880600	RCV000158255\|RCV001056155\|RCV003387438;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47353705	47353705	NC_000011.9:g.47353705G>T	ClinGen:CA014689	CN517202 not provided;
NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	-1	RCV003062364\|RCV003150581\|RCV003323303;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47353723	47353724	NC_000011.9:g.47353723_47353724del	-
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	4607	MYBPC3	Pathogenic/Likely pathogenic	397516037	RCV000035610\|RCV000158254\|RCV000168193\|RCV000208463\|RCV000588073\|RCV000678715\|RCV001188335\|RCV001270363\|RCV002482961\|RCV003390723;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:CN230	11	47353740	47353740	11:g.47353740G>A	ClinGen:CA014648	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	863225107	RCV000201500\|RCV001836640\|RCV001853228;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN239295\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47353775	47353775	NC_000011.9:g.47353775del	ClinGen:CA279321	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)	4607	MYBPC3	Pathogenic/Likely pathogenic	368765949	RCV000158241\|RCV000201437\|RCV000206843\|RCV001179298\|RCV001263457\|RCV002453476\|RCV002478419;	N	MedGen:C3661900\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|	11	47353795	47353795	11:g.47353795C>T	ClinGen:CA014549	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	397516029	RCV000035601\|RCV000696978;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47354119	47354120	NC_000011.9:g.47354123dup	ClinGen:CA014487	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3491-2A>T	4607	MYBPC3	Pathogenic/Likely pathogenic	397516022	RCV000443859\|RCV000464319\|RCV003314558\|RCV003333007;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47354255	47354255	11:g.47354255T>A	ClinGen:CA014265	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.3330+5G>C	4607	MYBPC3	Pathogenic/Likely pathogenic	373746463	RCV000197890\|RCV000223725\|RCV000247970\|RCV000515249\|RCV001027858\|RCV001171129\|RCV001193928\|RCV003147317;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54	11	47354740	47354740	11:g.47354740C>G	ClinGen:CA013966	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter)	4607	MYBPC3	Pathogenic/Likely pathogenic	863225113	RCV000201482\|RCV001171130\|RCV003144158\|RCV002517307;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47354775	47354775	11:g.47354775G>T	ClinGen:CA279299	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)	4607	MYBPC3	Pathogenic/Likely pathogenic	121909377	RCV000009147\|RCV000158223\|RCV000621059\|RCV000628863\|RCV002496311;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517202\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedG	11	47354789	47354789	11:g.47354789C>A	ClinGen:CA013793,OMIM:600958.0014	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.3190+5G>A	4607	MYBPC3	Pathogenic/Likely pathogenic	587782958	RCV000143916\|RCV000158222\|RCV000227910\|RCV000625072\|RCV000620265\|RCV000626633\|RCV000762845\|RCV001190183;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230	11	47355103	47355103	NC_000011.9:g.47355103C>T	ClinGen:CA013639	C0205700 Asymmetric septal hypertrophy;
NM_000256.3(MYBPC3):c.3043dup (p.Ala1015fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	869025468	RCV000208213\|RCV003333050\|RCV003333051;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47355254	47355255	NC_000011.9:g.47355256dup	ClinGen:CA351856	C0949658 Primary familial hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	397515990	RCV000035533\|RCV000054803\|RCV000225856\|RCV000158381\|RCV000208060\|RCV000589120\|RCV001526044\|RCV002496533;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN517202\|MONDO:MONDO:	11	47356633	47356634	11:g.47356633_47356634del	ClinGen:CA013077,MYBPC3 homepage - Leiden Muscular Dystrophy pages:MYBPC3_00172,OMIM:600958.0028	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter)	4607	MYBPC3	Pathogenic/Likely pathogenic	397515974	RCV000035504\|RCV000158167\|RCV000629027\|RCV001798084;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848	11	47359003	47359003	11:g.47359003G>C	ClinGen:CA012567	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2490dup (p.His831fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	397515966	RCV000157328\|RCV000158365\|RCV000232323\|RCV002251731;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47359053	47359054	11:g.47359053_47359054insA	ClinGen:CA012366	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)	4607	MYBPC3	Pathogenic/Likely pathogenic	2856655	RCV000009148\|RCV000158159\|RCV000525220\|RCV001170416\|RCV002453253\|RCV002490343\|RCV003319161;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|	11	47359085	47359085	11:g.47359085C>T	ClinGen:CA012326,UniProtKB:Q14896#VAR_029416,OMIM:600958.0015	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)	4607	MYBPC3	Pathogenic/Likely pathogenic	775404728	RCV000176522\|RCV000458652\|RCV000604898\|RCV002453626\|RCV003150049;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,	11	47359086	47359086	11:g.47359086G>A	ClinGen:CA012317	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	730880341	RCV000154500\|RCV000234262;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47359259	47359260	NC_000011.9:g.47359260dup	ClinGen:CA012205	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter)	4607	MYBPC3	Pathogenic/Likely pathogenic	863225112	RCV000201451\|RCV001041656\|RCV003401085;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|	11	47359278	47359278	11:g.47359278C>T	ClinGen:CA279280	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter)	4607	MYBPC3	Pathogenic/Likely pathogenic	863225106	RCV000201498\|RCV000618778\|RCV001089632\|RCV001170420\|RCV001537119;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|	11	47359283	47359283	11:g.47359283G>A	ClinGen:CA279318	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.2285T>A (p.Val762Asp)	4607	MYBPC3	Pathogenic/Likely pathogenic	1595844241	RCV001038117\|RCV003152745;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47360094	47360094	11:g.47360094A>T	-
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter)	4607	MYBPC3	Pathogenic/Likely pathogenic	863224483	RCV000201469\|RCV000200586;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47361204	47361204	NC_000011.9:g.47361204G>A	ClinGen:CA279293	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	727503192	RCV000158357\|RCV000811791\|RCV001257483\|RCV002415640\|RCV002498696;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedG	11	47361269	47361270	NC_000011.9:g.47361269_47361270delinsC	ClinGen:CA011614	CN517202 not provided;
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)	4607	MYBPC3	Pathogenic/Likely pathogenic	397515907	RCV000035407\|RCV000168303\|RCV000158097\|RCV000247256\|RCV001190403\|RCV002509185\|RCV003333005;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:C3661900\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,	11	47364248	47364248	11:g.47364248C>T	ClinGen:CA010508,UniProtKB:Q14896#VAR_027881	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	4607	MYBPC3	Pathogenic/Likely pathogenic	200411226	RCV000168090\|RCV000171824\|RCV000201509\|RCV000223693\|RCV000336189\|RCV000589860\|RCV000763243\|RCV001171139\|RCV002287371\|RCV003147345;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:C3661900\|MedGen:CN239	11	47364269	47364269	11:g.47364269C>T	ClinGen:CA010464,UniProtKB:Q14896#VAR_027880	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)	4607	MYBPC3	Pathogenic/Likely pathogenic	397515905	RCV000543508\|RCV000770365\|RCV001265564\|RCV001193929\|RCV001698977\|RCV002390322;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0024	11	47364270	47364270	11:g.47364270G>A	ClinGen:CA010455	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	886037900	RCV000240631\|RCV000481588\|RCV000768470\|RCV001375644;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MeSH:D056830,MedGen:C2717907	11	47364434	47364434	NC_000011.9:g.47364437del	ClinGen:CA10586354	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	727503203	RCV000158474\|RCV000201508;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47364479	47364480	NC_000011.9:g.47364484dup	ClinGen:CA279328	C0878544 Cardiomyopathy;
NM_000256.3(MYBPC3):c.1351+2T>C	4607	MYBPC3	Pathogenic/Likely pathogenic	397515897	RCV000158072\|RCV000656564\|RCV000815508\|RCV002477064;	N	MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM	11	47364570	47364570	11:g.47364570A>G	ClinGen:CA010144	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.1224-19G>A	4607	MYBPC3	Pathogenic/Likely pathogenic	587776699	RCV000009149\|RCV000168768\|RCV000467263\|RCV000788553\|RCV002498624\|RCV003149866;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:C3661900\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54	11	47364832	47364832	NC_000011.9:g.47364832C>T	ClinGen:CA009912,OMIM:600958.0016	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.1168del (p.His390fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	397515889	RCV000035373\|RCV000158489\|RCV000844685\|RCV001258062;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47365098	47365098	NC_000011.9:g.47365099del	ClinGen:CA009831	CN517202 not provided;
NM_000256.3(MYBPC3):c.1128del (p.Ser376fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	2095891398	RCV001237790\|RCV002290653;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47365138	47365138	11:g.47365138_47365138del	-
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	397516080	RCV000035677\|RCV000208183\|RCV000488321\|RCV000489037\|RCV002228120\|RCV002490484\|RCV003398597\|RCV003298051;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:C3661900\|Human Phenot	11	47368190	47368191	11:g.47368190_47368191del	ClinGen:CA016068,OMIM:600958.0030	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.906-36G>A	4607	MYBPC3	Pathogenic/Likely pathogenic	864622197	RCV000205089\|RCV001004909\|RCV001524823\|RCV001778792\|RCV002372195;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN517202\|	11	47368616	47368616	11:g.47368616C>T	ClinGen:CA349273	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.884del (p.Phe295fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	730880684	RCV000158420\|RCV000615912\|RCV002372033\|RCV002498787\|RCV002516382;	N	MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0	11	47368998	47368998	NC_000011.9:g.47368999del	ClinGen:CA015996	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.833del (p.Gly278fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	727503212	RCV000158419\|RCV000470757\|RCV000617562\|RCV000851294\|RCV001798471\|RCV003457646;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,	11	47369220	47369220	NC_000011.9:g.47369221del	ClinGen:CA015921	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	4607	MYBPC3	Pathogenic/Likely pathogenic	397516074	RCV000035668\|RCV000161125\|RCV000158310\|RCV000205517\|RCV000247227\|RCV000763244\|RCV001170208\|RCV002290957;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230	11	47369975	47369975	11:g.47369975C>T	ClinGen:CA015823	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.711C>A (p.Tyr237Ter)	4607	MYBPC3	Pathogenic/Likely pathogenic	774316050	RCV000768465\|RCV002466261;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47370036	47370036	NC_000011.9:g.47370036G>T	-
NM_000256.3(MYBPC3):c.450del (p.Asp151fs)	4607	MYBPC3	Pathogenic/Likely pathogenic	730880677	RCV000158410\|RCV001203794\|RCV003147373;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47371620	47371620	11:g.47371620_47371620del	ClinGen:CA015126	CN517202 not provided;
NM_000256.3(MYBPC3):c.229G>T (p.Gly77Ter)	4607	MYBPC3	Pathogenic/Likely pathogenic	869025459	RCV000208292\|RCV003152695;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47372853	47372853	NC_000011.9:g.47372853C>A	ClinGen:CA351921	C0949658 Primary familial hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.26-2A>G	4607	MYBPC3	Pathogenic/Likely pathogenic	376395543	RCV000035512\|RCV000158174\|RCV000470636\|RCV000656561\|RCV000621287\|RCV001176811\|RCV001255329\|RCV001849291\|RCV002280095\|RCV002496530\|RCV003421945;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230	11	47373058	47373058	11:g.47373058T>C	ClinGen:CA012771	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.3805G>T (p.Glu1269Ter)	4607	MYBPC3	Pathogenic	-1	RCV002283649;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47353632	47353632	47353632	-
NM_000256.3(MYBPC3):c.3799del (p.Arg1267fs)	4607	MYBPC3	Pathogenic	1595840648	RCV000806832\|RCV002283513;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47353638	47353638	11:g.47353638_47353638del	-
NM_000256.3(MYBPC3):c.3766del (p.Thr1256fs)	4607	MYBPC3	Pathogenic	2095877685	RCV001267668\|RCV001880153;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47353671	47353671	11:g.47353671_47353671del	-
NM_000256.3(MYBPC3):c.3677dup (p.Phe1227fs)	4607	MYBPC3	Pathogenic	-1	RCV003152834;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47353759	47353760		-
NM_000256.3(MYBPC3):c.3659_3662delinsTTCAAGAATGGC (p.Asp1220fs)	4607	MYBPC3	Pathogenic	886041031	RCV000009143;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47353775	47353778	11:g.47353775_47353776insCCATTCTTGAA	ClinGen:CA10602350,MYBPC3 homepage - Leiden Muscular Dystrophy pages:MYBPC3_00185,OMIM:600958.0010	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3559del (p.Leu1187fs)	4607	MYBPC3	Pathogenic	1555120300	RCV000501534;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47354185	47354185	11:g.47354185_47354185del	ClinGen:CA645372894	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3490+1G>A	4607	MYBPC3	Pathogenic	397516020	RCV000009137\|RCV000211824\|RCV001551952\|RCV003372600;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN517202\|MedGen:CN230736	11	47354364	47354364	11:g.47354364C>T	ClinGen:CA014233,OMIM:600958.0004	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3460delinsCT (p.Thr1154fs)	4607	MYBPC3	Pathogenic	-1	RCV003388819;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47354395	47354395		-
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)	4607	MYBPC3	Pathogenic	727504289	RCV003226219\|RCV003333033\|RCV000413211\|RCV000619606\|RCV000808027\|RCV000769308;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MedGen:CN517202\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217	11	47354483	47354483	11:g.47354483G>T	ClinGen:CA014029	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.3330+2T>G	4607	MYBPC3	Pathogenic	387906397	RCV000009152\|RCV000210564\|RCV000223892\|RCV000230753\|RCV001191915\|RCV001535677\|RCV002321477\|RCV002490344\|RCV003147278;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,Med	11	47354743	47354743	11:g.47354743A>C	ClinGen:CA013951,OMIM:600958.0020	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3324_3325del (p.Lys1108fs)	4607	MYBPC3	Pathogenic	1060499673	RCV000449536;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47354750	47354751	11:g.47354750_47354751del	ClinGen:CA16609416	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3313_3314insGG (p.Ala1105fs)	4607	MYBPC3	Pathogenic	2142850797	RCV001807950;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47354761	47354762	47354761	-
NM_000256.3(MYBPC3):c.3293G>A (p.Trp1098Ter)	4607	MYBPC3	Pathogenic	397516013	RCV000543867\|RCV000845302\|RCV003224118;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47354782	47354782	11:g.47354782C>T	ClinGen:CA013817	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)	4607	MYBPC3	Pathogenic	727503172	RCV000151070\|RCV000158396\|RCV000540054\|RCV000587552\|RCV000769309\|RCV001263510;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,	11	47354787	47354787	NC_000011.9:g.47354787del	ClinGen:CA013802	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter)	4607	MYBPC3	Pathogenic	397516006	RCV000533067\|RCV001198904\|RCV001798086\|RCV002444468\|RCV003226900;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN230736\|	11	47354842	47354842	11:g.47354842C>T	ClinGen:CA013715	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.3190+1G>A	4607	MYBPC3	Pathogenic	111683277	RCV000158206\|RCV000509397\|RCV000620737\|RCV000628934\|RCV002478452\|RCV003149939;	N	MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedG	11	47355107	47355107	11:g.47355107C>T	ClinGen:CA013610	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)	4607	MYBPC3	Pathogenic	397515992	RCV000158195\|RCV000201916\|RCV000547495\|RCV000606843\|RCV001170193\|RCV002496534;	N	MedGen:C3661900\|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MOND	11	47356593	47356593	11:g.47356593G>A	ClinGen:CA013154	C3495498 192600 Familial hypertrophic cardiomyopathy 1;
NM_000256.3(MYBPC3):c.2893C>T (p.Gln965Ter)	4607	MYBPC3	Pathogenic	730880578	RCV000158193\|RCV001850208\|RCV003388831;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47356605	47356605	NC_000011.9:g.47356605G>A	ClinGen:CA013116	CN517202 not provided;
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs)	4607	MYBPC3	Pathogenic	397515987	RCV000158380\|RCV000818526\|RCV001807750;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47356664	47356665	NC_000011.9:g.47356665_47356666del	ClinGen:CA013018	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)	4607	MYBPC3	Pathogenic	387907267	RCV000030699\|RCV000158189\|RCV000248559\|RCV000471886\|RCV001179578;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517202\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,	11	47356671	47356671	11:g.47356671G>A	ClinGen:CA013001,OMIM:600958.0023	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.2806_2807del (p.Thr936fs)	4607	MYBPC3	Pathogenic	-1	RCV003323332;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47356691	47356692		-
NM_000256.3(MYBPC3):c.2778_2781dup (p.Ser928fs)	4607	MYBPC3	Pathogenic	-1	RCV003476887;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47356716	47356717		-
NM_000256.3(MYBPC3):c.2766del (p.Gly922_Leu923insTer)	4607	MYBPC3	Pathogenic	1565624196	RCV000770986\|RCV002440599;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736	11	47356732	47356732	NC_000011.9:g.47356735del	-
NM_000256.3(MYBPC3):c.2729del (p.Pro910fs)	4607	MYBPC3	Pathogenic	-1	RCV002963347\|RCV003228109;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47357436	47357436	NC_000011.9:g.47357438del	-
NM_000256.3(MYBPC3):c.2678del (p.Pro893fs)	4607	MYBPC3	Pathogenic	-1	RCV003335784;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47357487	47357487		-
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)	4607	MYBPC3	Pathogenic	397515982	RCV000158180\|RCV000197345\|RCV002504875\|RCV003147316\|RCV003147315;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:	11	47357495	47357495	11:g.47357495C>T	ClinGen:CA012809	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs)	4607	MYBPC3	Pathogenic	397515973	RCV000035503\|RCV000158478\|RCV000009142;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47359006	47359010	11:g.47359006_47359010del	MYBPC3 homepage - Leiden Muscular Dystrophy pages:MYBPC3_00155,OMIM:600958.0009,ClinGen:CA012522	C0878544 Cardiomyopathy;
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs)	4607	MYBPC3	Pathogenic	730880653	RCV000158366\|RCV000538585\|RCV002492620;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47359033	47359033	NC_000011.9:g.47359033del	ClinGen:CA012413	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)	4607	MYBPC3	Pathogenic	397515963	RCV000035487\|RCV000157312\|RCV000198895\|RCV000223694\|RCV000245146\|RCV001170419\|RCV001535610\|RCV002496529;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:C3661900\|MedGen:CN230	11	47359281	47359281	11:g.47359280_47359281insC	ClinGen:CA012139,MYBPC3 homepage - Leiden Muscular Dystrophy pages:MYBPC3_00149,OMIM:600958.0011	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.2309-26A>G	4607	MYBPC3	Pathogenic	886041030	RCV000009141;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47359371	47359371	11:g.47359371T>C	ClinGen:CA10602349,MYBPC3 homepage - Leiden Muscular Dystrophy pages:MYBPC3_00338,OMIM:600958.0008	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2308+1G>A	4607	MYBPC3	Pathogenic	112738974	RCV000009140\|RCV000035478\|RCV000158147\|RCV000473746\|RCV001256692\|RCV003330408;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:	11	47360070	47360070	11:g.47360070C>T	ClinGen:CA011996,MYBPC3 homepage - Leiden Muscular Dystrophy pages:MYBPC3_00363,OMIM:600958.0007	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2164G>T (p.Glu722Ter)	4607	MYBPC3	Pathogenic	730880696	RCV001387603\|RCV001810047;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47360215	47360215	47360215	-
NM_000256.3(MYBPC3):c.2149-1G>T	4607	MYBPC3	Pathogenic	727504334	RCV000625575;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47360231	47360231	11:g.47360231C>A	ClinGen:CA380320674	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2149-2del	4607	MYBPC3	Pathogenic	1555121488	RCV000503166\|RCV000845529\|RCV001700398;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:CN517202	11	47360232	47360232	NC_000011.9:g.47360232del	ClinGen:CA645372895	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2148+1G>A	4607	MYBPC3	Pathogenic	1060499604	RCV001733690\|RCV002508813;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:C3661900	11	47360874	47360874	47360874	-
NM_000256.3(MYBPC3):c.2067+1G>A	4607	MYBPC3	Pathogenic	1444727212	RCV000521997\|RCV001188456\|RCV001227424\|RCV001809465\|RCV002420305;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|	11	47361201	47361201	11:g.47361201C>T	ClinGen:CA380321286	CN517202 not provided;
NM_000256.3(MYBPC3):c.1928-2A>G	4607	MYBPC3	Pathogenic	397515937	RCV000009136\|RCV000157326\|RCV000158133\|RCV000250981\|RCV000229899\|RCV000515302\|RCV000779063\|RCV001177884;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:C3661900\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217	11	47361343	47361343	11:g.47361343T>C	ClinGen:CA011513,OMIM:600958.0003	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs)	4607	MYBPC3	Pathogenic	397515926	RCV000158353\|RCV000585656\|RCV000620475\|RCV000628851\|RCV001798082;	N	MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,	11	47362786	47362786	NC_000011.9:g.47362788del	ClinGen:CA011173	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1678del (p.Asp560fs)	4607	MYBPC3	Pathogenic	727504366	RCV000154502\|RCV001251170;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47363654	47363654	11:g.47363654_47363654del	ClinGen:CA010909	C0949658 Primary familial hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.1645C>T (p.Gln549Ter)	4607	MYBPC3	Pathogenic	2142860329	RCV002250887;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47363687	47363687	47363687	-
NM_000256.3(MYBPC3):c.1624+2T>C	4607	MYBPC3	Pathogenic	111437311	RCV000158105\|RCV000617635\|RCV000707508\|RCV002243823;	N	MedGen:CN517202\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47364127	47364127	11:g.47364127A>G	ClinGen:CA010761	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	4607	MYBPC3	Pathogenic	121909374	RCV000009139\|RCV000035424\|RCV000158104\|RCV000201915\|RCV000199033\|RCV000247235\|RCV000505586\|RCV000627130\|RCV001170957\|RCV003332998\|RCV003387501;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:C3661900\|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002	11	47364129	47364129	11:g.47364129C>G	ClinGen:CA010806,OMIM:600958.0006	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1575_1588del (p.Tyr525_Ser530delinsTer)	4607	MYBPC3	Pathogenic	-1	RCV003323331;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47364165	47364178		-
NM_000256.3(MYBPC3):c.1469G>T (p.Gly490Val)	4607	MYBPC3	Pathogenic	397514752	RCV000054804;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47364284	47364284	11:g.47364284C>A	ClinGen:CA010432,UniProtKB:Q14896#VAR_070451,OMIM:600958.0029	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.1458-1G>C	4607	MYBPC3	Pathogenic	397515903	RCV000625026\|RCV000770368\|RCV001701407;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN517202	11	47364296	47364296	NC_000011.9:g.47364296C>G	ClinGen:CA380325311	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.1367del (p.Ile456fs)	4607	MYBPC3	Pathogenic	1595846398	RCV000790428;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47364471	47364471	11:g.47364471_47364471del	-
NM_000256.3(MYBPC3):c.1303C>T (p.Gln435Ter)	4607	MYBPC3	Pathogenic	1432810664	RCV000579171\|RCV001805196\|RCV001809678;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47364620	47364620	11:g.47364620G>A	ClinGen:CA380327136	CN517202 not provided;
NM_000256.3(MYBPC3):c.1302C>G (p.Tyr434Ter)	4607	MYBPC3	Pathogenic	-1	RCV003315108;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47364621	47364621		-
NM_000256.3(MYBPC3):c.1090+1G>A	4607	MYBPC3	Pathogenic	727504269	RCV000382204\|RCV000691292\|RCV002250578\|RCV002453506;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736	11	47367757	47367757	11:g.47367757C>T	ClinGen:CA009749	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter)	4607	MYBPC3	Pathogenic	573916965	RCV000211794\|RCV000625311\|RCV000844686\|RCV001529760;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN517202	11	47367848	47367848	11:g.47367848C>A	ClinGen:CA009672	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter)	4607	MYBPC3	Pathogenic	193922386	RCV000030293\|RCV000158304\|RCV000603903\|RCV000844687\|RCV002371794;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230	11	47367916	47367916	11:g.47367916G>T	ClinGen:CA016142	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.927-2A>G	4607	MYBPC3	Pathogenic	397516082	RCV000158322\|RCV000531021\|RCV000609977\|RCV000619499\|RCV000853176;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:	11	47367923	47367923	11:g.47367923T>C	ClinGen:CA016121	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.927-9G>A	4607	MYBPC3	Pathogenic	397516083	RCV000158321\|RCV000208378\|RCV000473914\|RCV000515159\|RCV000709744\|RCV001170203;	N	MedGen:C3661900\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:	11	47367930	47367930	11:g.47367930C>T	ClinGen:CA016127	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.906-1G>C	4607	MYBPC3	Pathogenic	587776700	RCV000009150\|RCV000158319\|RCV001040124\|RCV001797997;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848	11	47368581	47368581	NC_000011.9:g.47368581C>G	ClinGen:CA016027,OMIM:600958.0017	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs)	4607	MYBPC3	Pathogenic	786204329	RCV000168752\|RCV000768464\|RCV001701627;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN517202	11	47370045	47370046	NC_000011.9:g.47370049_47370074dup	ClinGen:CA273860	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.654+1G>A	4607	MYBPC3	Pathogenic	730880621	RCV000509271\|RCV000604711;	N	MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47371324	47371324	11:g.47371324C>T	ClinGen:CA221706500	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs)	4607	MYBPC3	Pathogenic	397516059	RCV000223779\|RCV000225364\|RCV000467369\|RCV000769360\|RCV002345274;	N	MedGen:C3661900\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|	11	47371427	47371428	NC_000011.9:g.47371428dup	ClinGen:CA015464	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.519del (p.Phe174fs)	4607	MYBPC3	Pathogenic	1595849742	RCV001029818\|RCV003222196;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:C3661900	11	47371460	47371460	11:g.47371460_47371460del	-
NM_000256.3(MYBPC3):c.506-1G>A	4607	MYBPC3	Pathogenic	397516056	RCV000628985\|RCV002251746;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47371474	47371474	11:g.47371474C>T	ClinGen:CA380338276	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter)	4607	MYBPC3	Pathogenic	730880618	RCV002326898\|RCV002051820\|RCV003333034\|RCV000794469;	N	MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47371586	47371586	11:g.47371586G>A	ClinGen:CA015236
NM_000256.3(MYBPC3):c.459del (p.Ile154fs)	4607	MYBPC3	Pathogenic	397516052	RCV000158414\|RCV000475909\|RCV002482963;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47371611	47371611	NC_000011.9:g.47371614del	ClinGen:CA015155	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.431_432del (p.Gly144fs)	4607	MYBPC3	Pathogenic	397516047	RCV000035624\|RCV003335065;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47371638	47371639	11:g.47371638_47371639del	ClinGen:CA015073	C0949658 Primary familial hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.388del (p.Ser130fs)	4607	MYBPC3	Pathogenic	-1	RCV003153204;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47372071	47372071		-
NM_000256.3(MYBPC3):c.332_335dup (p.Glu112delinsAspTer)	4607	MYBPC3	Pathogenic	886037901	RCV000240644;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47372123	47372124	NC_000011.9:g.47372124_47372127dupTCAG	ClinGen:CA10586356	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.237C>G (p.Tyr79Ter)	4607	MYBPC3	Pathogenic	730880698	RCV000158452\|RCV000219427\|RCV002283460;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47372845	47372845	NC_000011.9:g.47372845G>C	ClinGen:CA012155	CN517202 not provided;
NM_000256.3(MYBPC3):c.226C>T (p.Gln76Ter)	4607	MYBPC3	Pathogenic	-1	RCV003333609\|RCV003333608\|RCV003397010;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|	11	47372856	47372856		-
NM_000256.3(MYBPC3):c.175A>G (p.Thr59Ala)	4607	MYBPC3	Pathogenic	121909375	RCV000009145;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47372907	47372907	11:g.47372907T>C	ClinGen:CA011043,UniProtKB:Q14896#VAR_029391,OMIM:600958.0012	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3768_3771del (p.Asn1257fs)	4607	MYBPC3	Likely pathogenic	2142849245	RCV002250923;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47353666	47353669	47353665	-
NM_000256.3(MYBPC3):c.3759dup (p.Arg1254fs)	4607	MYBPC3	Likely pathogenic	2095877700	RCV001170946\|RCV002466265;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47353677	47353678	11:g.47353677_47353678insG	-
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro)	4607	MYBPC3	Likely pathogenic	730880702	RCV000158461\|RCV000459464\|RCV001808429\|RCV003372628;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736	11	47353724	47353724	11:g.47353724A>G	ClinGen:CA014684	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.3620del (p.Ser1207fs)	4607	MYBPC3	Likely pathogenic	2095878223	RCV001280842\|RCV001799060;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848	11	47354124	47354124	11:g.47354124_47354124del	-
NM_000256.3(MYBPC3):c.3471del (p.Val1158fs)	4607	MYBPC3	Likely pathogenic	-1	RCV002466807;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47354384	47354384	NC_000011.9:g.47354386del	-
NM_000256.3(MYBPC3):c.3414dup (p.Val1139fs)	4607	MYBPC3	Likely pathogenic	863225114	RCV000201466;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47354440	47354441	11:g.47354440_47354441insG	ClinGen:CA279290	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3227_3233del (p.Asp1076fs)	4607	MYBPC3	Likely pathogenic	-1	RCV002288450;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47354842	47354848	47354841	-
NM_000256.3(MYBPC3):c.3184del (p.Val1062fs)	4607	MYBPC3	Likely pathogenic	1595841736	RCV000853239;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47355114	47355114	11:g.47355114_47355114del	-
NM_000256.3(MYBPC3):c.3168del (p.Thr1057fs)	4607	MYBPC3	Likely pathogenic	760491068	RCV002250967;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47355130	47355130	47355129	-
NM_000256.3(MYBPC3):c.3020G>A (p.Trp1007Ter)	4607	MYBPC3	Likely pathogenic	-1	RCV003323333;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47355278	47355278		-
NM_000256.3(MYBPC3):c.2711_2737del (p.Tyr904_Gly912del)	4607	MYBPC3	Likely pathogenic	2095881732	RCV001257455;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47357428	47357454	11:g.47357428_47357454del	-
NM_000256.3(MYBPC3):c.2670dup (p.Arg891fs)	4607	MYBPC3	Likely pathogenic	863225104	RCV000201439;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47357494	47357495	11:g.47357494_47357495insC	ClinGen:CA279270	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2602+1G>A	4607	MYBPC3	Likely pathogenic	-1	RCV003330213;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47358941	47358941		-
NM_000256.3(MYBPC3):c.2550del (p.Asn850fs)	4607	MYBPC3	Likely pathogenic	863225105	RCV000201455;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47358994	47358994	NC_000011.9:g.47358994del	ClinGen:CA279283	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2449del (p.Arg817fs)	4607	MYBPC3	Likely pathogenic	-1	RCV002283701;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47359095	47359095	47359094	-
NM_000256.3(MYBPC3):c.2414-1G>A	4607	MYBPC3	Likely pathogenic	863224899	RCV000200036;	N	MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47359131	47359131	NC_000011.9:g.47359131C>T	ClinGen:CA279034	C1449563 115200 Dilated cardiomyopathy 1A;
NM_000256.3(MYBPC3):c.2240del (p.Gly747fs)	4607	MYBPC3	Likely pathogenic	-1	RCV003153190;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47360139	47360139		-
NM_000256.3(MYBPC3):c.2149-2A>C	4607	MYBPC3	Likely pathogenic	2142856729	RCV001808044;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47360232	47360232	47360232	-
NM_000256.3(MYBPC3):c.2148+1G>T	4607	MYBPC3	Likely pathogenic	1060499604	RCV000477839\|RCV000619126\|RCV000702923\|RCV001569200\|RCV001805094;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN517	11	47360874	47360874	NC_000011.9:g.47360874C>A	ClinGen:CA16616918	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.2067+2del	4607	MYBPC3	Likely pathogenic	-1	RCV003153010;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47361200	47361200		-
NM_000256.3(MYBPC3):c.1927+600C>T	4607	MYBPC3	Likely pathogenic	1595845204	RCV000853410\|RCV003227869;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47361954	47361954	11:g.47361954G>A	-
NM_000256.3(MYBPC3):c.1927+1G>T	4607	MYBPC3	Likely pathogenic	2142859053	RCV001809183;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47362553	47362553	47362553	-
NM_000256.3(MYBPC3):c.1652_1656del (p.Ile551fs)	4607	MYBPC3	Likely pathogenic	730880644	RCV003246691;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47363676	47363680		-
NM_000256.3(MYBPC3):c.1609G>T (p.Glu537Ter)	4607	MYBPC3	Likely pathogenic	2142860830	RCV001808198;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47364144	47364144	47364144	-
NM_000256.3(MYBPC3):c.1595dup (p.Gln533fs)	4607	MYBPC3	Likely pathogenic	-1	RCV002283692;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47364157	47364158	47364157	-
NM_000256.3(MYBPC3):c.1526_1527del (p.Arg509fs)	4607	MYBPC3	Likely pathogenic	2142861049	RCV002251101;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47364226	47364227	47364225	-
NM_000256.3(MYBPC3):c.1329T>A (p.Cys443Ter)	4607	MYBPC3	Likely pathogenic	-1	RCV003234615;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47364594	47364594		-
NM_000256.3(MYBPC3):c.1225A>T (p.Lys409Ter)	4607	MYBPC3	Likely pathogenic	1114167419	RCV000490813;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47364812	47364812	11:g.47364812T>A	ClinGen:CA380327855	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.1113_1116del (p.Ala372fs)	4607	MYBPC3	Likely pathogenic	-1	RCV003152879;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47365150	47365153		-
NM_000256.3(MYBPC3):c.927_928delGG	4607	MYBPC3	Likely pathogenic	886037902	RCV000240632\|RCV000768467;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47367920	47367921	NC_000011.9:g.47367921_47367922del	ClinGen:CA10586355	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.773-1G>C	4607	MYBPC3	Likely pathogenic	2142865708	RCV002251838;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47369457	47369457	47369457	-
NM_000256.3(MYBPC3):c.655-2A>G	4607	MYBPC3	Likely pathogenic	1219818351	RCV001808178\|RCV003150460;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848	11	47370094	47370094	47370094	-
NM_000256.3(MYBPC3):c.560del (p.Pro187fs)	4607	MYBPC3	Likely pathogenic	-1	RCV003234878;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47371419	47371419		-
NM_000256.3(MYBPC3):c.505+1dup	4607	MYBPC3	Likely pathogenic	-1	RCV003323334;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47371563	47371564		-
NM_000256.3(MYBPC3):c.482C>G (p.Pro161Arg)	4607	MYBPC3	Likely pathogenic	-1	RCV003153224;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47371588	47371588		-
NM_000256.3(MYBPC3):c.407-1G>A	4607	MYBPC3	Likely pathogenic	185449721	RCV002033661\|RCV002486546;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47371664	47371664	47371664	-
NM_000256.3(MYBPC3):c.306del (p.Met103fs)	4607	MYBPC3	Likely pathogenic	863225109	RCV000201460;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47372153	47372153	NC_000011.9:g.47372155del	ClinGen:CA279289	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.227dup (p.Ser78fs)	4607	MYBPC3	Likely pathogenic	863225111	RCV000201490;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47372854	47372855	11:g.47372854_47372855insT	ClinGen:CA279311	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.86del (p.Phe29fs)	4607	MYBPC3	Likely pathogenic	2142869802	RCV001808256;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47372996	47372996	47372995	-
NM_000256.3(MYBPC3):c.26-1G>T	4607	MYBPC3	Likely pathogenic	-1	RCV003153091;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47373057	47373057		-
NM_000256.3(MYBPC3):c.*293A>G	4607	MYBPC3	Uncertain significance	886048365	RCV000272497\|RCV000362644;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47353001	47353001	NC_000011.9:g.47353001T>C	ClinGen:CA10638713	CN239310 Dilated Cardiomyopathy, Dominant;
NM_000256.3(MYBPC3):c.*275G>A	4607	MYBPC3	Uncertain significance	916334281	RCV001104742\|RCV001104741;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47353019	47353019	11:g.47353019C>T	-
NM_000256.3(MYBPC3):c.*236G>A	4607	MYBPC3	Benign/Likely benign	11570121	RCV000292590\|RCV000386962\|RCV001712015;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MedGen:C3661900	11	47353058	47353058	NC_000011.9:g.47353058C>T	ClinGen:CA10631006	CN239310 Dilated Cardiomyopathy, Dominant;
NM_000256.3(MYBPC3):c.*212C>G	4607	MYBPC3	Uncertain significance	2095874401	RCV001104743\|RCV001104744;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47353082	47353082	11:g.47353082G>C	-
NM_000256.3(MYBPC3):c.*131T>C	4607	MYBPC3	Conflicting interpretations of pathogenicity	570058149	RCV000305406\|RCV000340257;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47353163	47353163	NC_000011.9:g.47353163A>G	ClinGen:CA10638722	CN239310 Dilated Cardiomyopathy, Dominant;
NM_000256.3(MYBPC3):c.*127G>A	4607	MYBPC3	Uncertain significance	549519453	RCV000342115\|RCV000397532;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47353167	47353167	NC_000011.9:g.47353167C>T	ClinGen:CA10639329	CN239310 Dilated Cardiomyopathy, Dominant;
NM_000256.3(MYBPC3):c.*119C>A	4607	MYBPC3	Uncertain significance	764758393	RCV000271651\|RCV000312643;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47353175	47353175	NC_000011.9:g.47353175G>T	ClinGen:CA10638723	CN239310 Dilated Cardiomyopathy, Dominant;
NM_000256.3(MYBPC3):c.*116T>C	4607	MYBPC3	Uncertain significance	886048367	RCV000277573\|RCV000367444;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47353178	47353178	NC_000011.9:g.47353178A>G	ClinGen:CA10635050	CN239310 Dilated Cardiomyopathy, Dominant;
NM_000256.3(MYBPC3):c.*113G>T	4607	MYBPC3	Benign/Likely benign	117960173	RCV000319965\|RCV000373636\|RCV001712016;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MedGen:C3661900	11	47353181	47353181	NC_000011.9:g.47353181C>A	ClinGen:CA10638724	CN239310 Dilated Cardiomyopathy, Dominant;
NM_000256.3(MYBPC3):c.3815-12C>T	4607	MYBPC3	Uncertain significance	764320767	RCV001108134\|RCV001108133;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47353444	47353444	11:g.47353444G>A	-
NM_000256.3(MYBPC3):c.3810G>A (p.Val1270=)	4607	MYBPC3	Conflicting interpretations of pathogenicity	1255638075	RCV001108135\|RCV001108136\|RCV001471621\|RCV001524622\|RCV003293882;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:	11	47353627	47353627	11:g.47353627C>T	-
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr)	4607	MYBPC3	Uncertain significance	397516041	RCV000505727\|RCV000696277\|RCV000766384\|RCV002477070\|RCV003380402;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54	11	47353640	47353640	11:g.47353640C>T	ClinGen:CA014925	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.3791G>A (p.Cys1264Tyr)	4607	MYBPC3	Uncertain significance	397514751	RCV000035617\|RCV000544126\|RCV000766383\|RCV001787822\|RCV002482962;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN517202\|EFO:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:001	11	47353646	47353646	11:g.47353646C>T	ClinGen:CA014899	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp)	4607	MYBPC3	Conflicting interpretations of pathogenicity	370338674	RCV000158265\|RCV000253530\|RCV000628915\|RCV000724227\|RCV000988534\|RCV001108137\|RCV001190185;	N	MedGen:CN169374\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:C3661900\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet	11	47353650	47353650	11:g.47353650G>A	ClinGen:CA014891	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.3785C>T (p.Ala1262Val)	4607	MYBPC3	Uncertain significance	2095877651	RCV001199208;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47353652	47353652	11:g.47353652G>A	-
NM_000256.3(MYBPC3):c.3753T>C (p.Tyr1251=)	4607	MYBPC3	Conflicting interpretations of pathogenicity	397516039	RCV000035615\|RCV001102914\|RCV001102915\|RCV001518830\|RCV001798089;	N	MedGen:CN169374\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenot	11	47353684	47353684	11:g.47353684A>G	ClinGen:CA014777	CN169374 not specified;
NM_000256.3(MYBPC3):c.3615G>C (p.Arg1205=)	4607	MYBPC3	Conflicting interpretations of pathogenicity	771292799	RCV001104834\|RCV001104835\|RCV002069733;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47354129	47354129	11:g.47354129C>G	-
NM_000256.3(MYBPC3):c.3605G>C (p.Cys1202Ser)	4607	MYBPC3	Uncertain significance	727503170	RCV000473360\|RCV001179116\|RCV002481419\|RCV002451099;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014	11	47354139	47354139	NC_000011.9:g.47354139C>G	ClinGen:CA16613579	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.3573G>A (p.Ser1191=)	4607	MYBPC3	Benign/Likely benign	371488508	RCV000538979\|RCV000612605\|RCV001089321\|RCV001178160\|RCV002456037;	N	MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|	11	47354171	47354171	11:g.47354171C>T	ClinGen:CA079439	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)	4607	MYBPC3	Conflicting interpretations of pathogenicity	199669878	RCV000035594\|RCV000172003\|RCV000509102\|RCV001079285\|RCV001104836\|RCV001171126\|RCV001293111\|RCV002336113;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54	11	47354209	47354209	11:g.47354209C>T	ClinGen:CA014298	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3452C>T (p.Ala1151Val)	4607	MYBPC3	Uncertain significance	779884363	RCV000999604\|RCV001184393\|RCV002505527\|RCV002454250;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014	11	47354403	47354403	11:g.47354403G>A	-
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)	4607	MYBPC3	Conflicting interpretations of pathogenicity	187705120	RCV000035587\|RCV000589004\|RCV001059373\|RCV001198124\|RCV003333006;	N	MedGen:CN169374\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54	11	47354442	47354442	11:g.47354442C>G	ClinGen:CA014130	CN517202 not provided;
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)	4607	MYBPC3	Conflicting interpretations of pathogenicity	730880674	RCV000158402\|RCV000208115\|RCV000625071\|RCV000766373\|RCV000768480\|RCV000769307\|RCV002453544\|RCV003147372;	N	MedGen:CN169374\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217	11	47354446	47354448	NC_000011.9:g.47354448TAG[1]	ClinGen:CA014090	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met)	4607	MYBPC3	Conflicting interpretations of pathogenicity	121909378	RCV000009135\|RCV000151069\|RCV000534928\|RCV000766371\|RCV001179577\|RCV002453252;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,	11	47354482	47354482	11:g.47354482C>T	ClinGen:CA014038,OMIM:600958.0018	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His)	4607	MYBPC3	Conflicting interpretations of pathogenicity	397516018	RCV000035584\|RCV000786362\|RCV001105976\|RCV001105975\|RCV001176064\|RCV002054566;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phe	11	47354493	47354493	11:g.47354493C>T	ClinGen:CA014019	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys)	4607	MYBPC3	Uncertain significance	368721523	RCV000547056\|RCV000601241\|RCV001188388\|RCV001564894\|RCV002323907\|RCV002490930;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN517202\|	11	47354497	47354497	11:g.47354497G>A	ClinGen:CA053677	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3343G>A (p.Val1115Ile)	4607	MYBPC3	Uncertain significance	531189495	RCV000475681\|RCV000988536\|RCV001181372\|RCV002323704\|RCV002469153;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN230736\|	11	47354512	47354512	11:g.47354512C>T	ClinGen:CA5975358	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.3340A>G (p.Thr1114Ala)	4607	MYBPC3	Uncertain significance	1595841329	RCV001526306\|RCV001575519\|RCV002501855;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:C3661900\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47354515	47354515	47354515	-
NM_000256.3(MYBPC3):c.3330+5G>A	4607	MYBPC3	Conflicting interpretations of pathogenicity	373746463	RCV000009133\|RCV000158230\|RCV000795334\|RCV002321476;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230736	11	47354740	47354740	11:g.47354740C>T	ClinGen:CA013957,OMIM:600958.0001	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.3326C>A (p.Thr1109Asn)	4607	MYBPC3	Uncertain significance	397516016	RCV000622376\|RCV002506513\|RCV003238785;	N	MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200, Orphanet:217607\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517202	11	47354749	47354749	NC_000011.9:g.47354749G>T	ClinGen:CA380314020	C0340427 Familial dilated cardiomyopathy;
NM_000256.3(MYBPC3):c.3301A>G (p.Thr1101Ala)	4607	MYBPC3	Uncertain significance	2095878980	RCV001105981\|RCV001105982;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47354774	47354774	11:g.47354774T>C	-
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=)	4607	MYBPC3	Benign/Likely benign	367927327	RCV000151071\|RCV000621874\|RCV000625351\|RCV000756371\|RCV000771897\|RCV001089207;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,	11	47354790	47354790	NC_000011.9:g.47354790C>T	ClinGen:CA013778	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.3217C>T (p.Arg1073Trp)	4607	MYBPC3	Uncertain significance	368973872	RCV001042371\|RCV001188558\|RCV002445236\|RCV003147578\|RCV003147579;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|	11	47354858	47354858	11:g.47354858G>A	-
NM_000256.3(MYBPC3):c.3197C>G (p.Pro1066Arg)	4607	MYBPC3	Uncertain significance	2095879154	RCV001524829\|RCV001535759\|RCV002568081;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0011403,MedGen:C1858725,OMIM:604169, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:000504	11	47354878	47354878	47354878	-
NM_000256.3(MYBPC3):c.3109C>T (p.Arg1037Cys)	4607	MYBPC3	Uncertain significance	758421775	RCV000696186\|RCV001190215\|RCV002493205\|RCV003163201;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014	11	47355189	47355189	NC_000011.9:g.47355189G>A	-	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys)	4607	MYBPC3	Benign/Likely benign	61729664	RCV000035561\|RCV000252526\|RCV000586186\|RCV000625353\|RCV000852648\|RCV000771353\|RCV001085534\|RCV002482960;	N	MedGen:CN169374\|MedGen:CN230736\|MedGen:C3661900\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848; MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976\|Human Phenotype Onto	11	47355192	47355192	11:g.47355192G>A	ClinGen:CA013488	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.3097C>T (p.Arg1033Trp)	4607	MYBPC3	Uncertain significance	748909815	RCV000489701\|RCV000772024\|RCV001108212\|RCV001108213\|RCV001236686;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phenotype Ontology:	11	47355201	47355201	11:g.47355201G>A	ClinGen:CA079120	CN169374 not specified;
NM_000256.3(MYBPC3):c.3072C>A (p.Ser1024Arg)	4607	MYBPC3	Uncertain significance	767605155	RCV001178479\|RCV003117808\|RCV003152750;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47355226	47355226	11:g.47355226G>T	-
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)	4607	MYBPC3	Conflicting interpretations of pathogenicity	397516000	RCV000035555\|RCV000167911\|RCV000168808\|RCV000257925\|RCV001027700\|RCV001189182\|RCV002444467;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MONDO:MONDO:	11	47355233	47355233	11:g.47355233C>G	ClinGen:CA013405	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe)	4607	MYBPC3	Conflicting interpretations of pathogenicity	375776406	RCV000158202\|RCV000211436\|RCV001103017\|RCV001103018\|RCV001170191\|RCV002433696;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phenot	11	47355487	47355487	NC_000011.9:g.47355487G>A	ClinGen:CA013248	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.2965G>A (p.Glu989Lys)	4607	MYBPC3	Uncertain significance	727503178	RCV001187225\|RCV001248233\|RCV001809990\|RCV002436756;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736	11	47355502	47355502	11:g.47355502C>T	-
NM_000256.3(MYBPC3):c.2927C>G (p.Pro976Arg)	4607	MYBPC3	Uncertain significance	954096716	RCV000600797\|RCV001700238\|RCV002438611\|RCV002498993\|RCV002531732;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0	11	47355540	47355540	11:g.47355540G>C	ClinGen:CA221683094	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2905+1G>A	4607	MYBPC3	Conflicting interpretations of pathogenicity	397515991	RCV000035537\|RCV000158196\|RCV000195678\|RCV000619925\|RCV001269119;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230736\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:	11	47356592	47356592	11:g.47356592C>T	ClinGen:CA013130	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.2901C>A (p.Ile967=)	4607	MYBPC3	Conflicting interpretations of pathogenicity	2095880876	RCV001103020\|RCV001103019\|RCV001453434\|RCV001799040;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:	11	47356597	47356597	11:g.47356597G>T	-
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)	4607	MYBPC3	Conflicting interpretations of pathogenicity	193922380	RCV000030285\|RCV000035534\|RCV000415634\|RCV000415668\|RCV000487942\|RCV000622091\|RCV000776144\|RCV001086258\|RCV001254752;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:CN169374\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:C3661900\|MedGen:CN230736\|Human	11	47356628	47356628	11:g.47356628G>C	ClinGen:CA013082,UniProtKB:Q14896#VAR_070453	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.2849C>A (p.Ala950Glu)	4607	MYBPC3	Uncertain significance	730880577	RCV001811921\|RCV002506838;	N	MedGen:C3661900\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47356649	47356649	47356649	-
NM_000256.3(MYBPC3):c.2816G>C (p.Arg939Pro)	4607	MYBPC3	Uncertain significance	946763177	RCV001969166\|RCV002507725;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47356682	47356682	47356682	-
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp)	4607	MYBPC3	Uncertain significance	534366414	RCV000455020\|RCV000609678\|RCV000769312\|RCV001232158\|RCV001701005\|RCV002436369;	N	MedGen:CN169374\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|	11	47356683	47356683	NC_000011.9:g.47356683G>A	ClinGen:CA078969	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2788C>G (p.Leu930Val)	4607	MYBPC3	Uncertain significance	1399854518	RCV001895565\|RCV002440970\|RCV002482654;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47356710	47356710	47356710	-
NM_000256.3(MYBPC3):c.2784G>A (p.Ser928=)	4607	MYBPC3	Likely benign	372510974	RCV000035526\|RCV002504876;	N	MedGen:CN169374\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47356714	47356714	NC_000011.9:g.47356714C>T	ClinGen:CA012969	CN169374 not specified;
NM_000256.3(MYBPC3):c.2771C>T (p.Thr924Ile)	4607	MYBPC3	Conflicting interpretations of pathogenicity	200406864	RCV000172007\|RCV000534663\|RCV001104922\|RCV001104923\|RCV001180564\|RCV002433699;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phenot	11	47356727	47356727	NC_000011.9:g.47356727G>A	ClinGen:CA012957	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.2765G>A (p.Gly922Glu)	4607	MYBPC3	Uncertain significance	751224775	RCV000560897\|RCV000763746\|RCV002438276\|RCV003156247;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MedGen:CN230736\|MedGen:CN517	11	47356733	47356733	11:g.47356733C>T	ClinGen:CA078950	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu)	4607	MYBPC3	Benign/Likely benign	367729718	RCV000721105\|RCV000988537\|RCV001084330\|RCV001186906\|RCV003372626;	N	MedGen:C3661900\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|	11	47356737	47356737	11:g.47356737G>C	ClinGen:CA012952	CN169374 not specified;
NM_000256.3(MYBPC3):c.2737+14C>A	4607	MYBPC3	Conflicting interpretations of pathogenicity	886048373	RCV000283639\|RCV000404474\|RCV002520725;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47357414	47357414	11:g.47357414G>T	ClinGen:CA10638731	CN239310 Dilated Cardiomyopathy, Dominant;
NM_000256.3(MYBPC3):c.2737+12C>T	4607	MYBPC3	Benign	3729936	RCV000035522\|RCV000306221\|RCV000613491\|RCV001510853\|RCV001536148;	N	MedGen:CN169374\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:C3661	11	47357416	47357416	11:g.47357416G>A	ClinGen:CA012885	CN239310 Dilated Cardiomyopathy, Dominant;
NM_000256.3(MYBPC3):c.2708G>A (p.Gly903Asp)	4607	MYBPC3	Uncertain significance	1007623141	RCV001175789\|RCV002480585;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47357457	47357457	11:g.47357457C>T	-
NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His)	4607	MYBPC3	Uncertain significance	372628478	RCV000035520\|RCV000690258\|RCV000766360\|RCV000988539\|RCV001188364;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:C3661900\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,	11	47357481	47357481	11:g.47357481C>T	ClinGen:CA012831	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.2683C>T (p.Arg895Cys)	4607	MYBPC3	Uncertain significance	374976635	RCV000473577\|RCV001177377\|RCV001753880\|RCV002481420\|RCV003168777;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197;	11	47357482	47357482	NC_000011.9:g.47357482G>A	ClinGen:CA078906	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp)	4607	MYBPC3	Uncertain significance	369289966	RCV001002624\|RCV001044372\|RCV001189692\|RCV002497322;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197;	11	47357483	47357483	11:g.47357483C>A	-
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)	4607	MYBPC3	Uncertain significance	371401403	RCV000023054\|RCV000035516\|RCV000148675\|RCV000474002\|RCV000619983\|RCV000766358\|RCV001170201\|RCV002490405;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN169374\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230	11	47357547	47357547	11:g.47357547G>T	ClinGen:CA012748,UniProtKB:Q14896#VAR_029420,OMIM:600958.0022	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.2613C>T (p.Ser871=)	4607	MYBPC3	Conflicting interpretations of pathogenicity	531228202	RCV001106090\|RCV001108319\|RCV000614247\|RCV001502214\|RCV001525242;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenot	11	47357552	47357552	11:g.47357552G>A	ClinGen:CA078867	CN169374 not specified;
NM_000256.3(MYBPC3):c.2543C>G (p.Ala848Gly)	4607	MYBPC3	Uncertain significance	730880569	RCV000158169\|RCV001178352\|RCV002426772\|RCV002484970;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47359001	47359001	NC_000011.9:g.47359001G>C	ClinGen:CA012577	CN169374 not specified;
NM_000256.3(MYBPC3):c.2543C>T (p.Ala848Val)	4607	MYBPC3	Uncertain significance	730880569	RCV002224306\|RCV002481035;	N	MedGen:C3661900\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47359001	47359001	47359001	-
NM_000256.3(MYBPC3):c.2527G>A (p.Glu843Lys)	4607	MYBPC3	Uncertain significance	730880567	RCV000505723\|RCV001857562\|RCV002484969;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47359017	47359017	NC_000011.9:g.47359017C>T	ClinGen:CA012486	CN517202 not provided;
NM_000256.3(MYBPC3):c.2512G>C (p.Glu838Gln)	4607	MYBPC3	Uncertain significance	397515969	RCV000156245\|RCV001351680\|RCV002484948\|RCV003162637;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MedGen:CN230	11	47359032	47359032	11:g.47359032C>G	ClinGen:CA012426	CN169374 not specified;
NM_000256.3(MYBPC3):c.2504G>T (p.Arg835Leu)	4607	MYBPC3	Uncertain significance	527305885	RCV000988541\|RCV001293107;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47359040	47359040	11:g.47359040C>A	-
NM_000256.3(MYBPC3):c.2500C>T (p.Arg834Trp)	4607	MYBPC3	Uncertain significance	752007810	RCV000554970\|RCV000625023\|RCV000994630\|RCV001177627\|RCV002431509;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|	11	47359044	47359044	11:g.47359044G>A	ClinGen:CA050196	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)	4607	MYBPC3	Conflicting interpretations of pathogenicity	199865688	RCV000035494\|RCV000054797\|RCV000054796\|RCV000148656\|RCV000157313\|RCV000143914\|RCV000234059\|RCV000617236\|RCV000771175\|RCV001081856\|RCV002508762;	N	MedGen:CN169374\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|EFO:EFO_0000407,Human Phenotype Ontol	11	47359047	47359047	11:g.47359047C>T	ClinGen:CA012381,UniProtKB:Q14896#VAR_029417,OMIM:600958.0024	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro)	4607	MYBPC3	Conflicting interpretations of pathogenicity	2856655	RCV000158160\|RCV002466452;	N	MedGen:CN169374\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47359085	47359085	NC_000011.9:g.47359085C>G	ClinGen:CA012335	CN169374 not specified;
NM_000256.3(MYBPC3):c.2450G>T (p.Arg817Leu)	4607	MYBPC3	Uncertain significance	397515964	RCV000492871\|RCV001182998\|RCV001856981\|RCV003329164;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47359094	47359094	11:g.47359094C>A	ClinGen:CA380318396	CN169374 not specified;
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp)	4607	MYBPC3	Conflicting interpretations of pathogenicity	727503188	RCV000151096\|RCV000485850\|RCV000628977\|RCV000763241\|RCV003447505;	N	MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54	11	47359095	47359095	11:g.47359095G>A	ClinGen:CA012285	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)	4607	MYBPC3	Conflicting interpretations of pathogenicity	727504288	RCV000154301\|RCV000157327\|RCV000168801\|RCV000196806\|RCV000587228\|RCV000777726\|RCV002453508;	N	MedGen:CN169374\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:C3661	11	47359101	47359103	11:g.47359101_47359103del	ClinGen:CA354095	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His)	4607	MYBPC3	Conflicting interpretations of pathogenicity	375675796	RCV000035488\|RCV000148677\|RCV000201483\|RCV000250821\|RCV000537026\|RCV000730623\|RCV001184543;	N	MedGen:CN169374\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217	11	47359115	47359115	11:g.47359115C>T	ClinGen:CA012237,UniProtKB:Q14896#VAR_029413	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.2413G>A (p.Gly805Ser)	4607	MYBPC3	Uncertain significance	-1	RCV002283722;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47359241	47359241	47359241	-
NM_000256.3(MYBPC3):c.2399G>A (p.Gly800Glu)	4607	MYBPC3	Uncertain significance	1273374175	RCV001178392\|RCV001773423\|RCV002480601\|RCV002558877\|RCV003293928;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phenotype Ontology:	11	47359255	47359255	11:g.47359255C>T	-
NM_000256.3(MYBPC3):c.2327C>T (p.Ala776Val)	4607	MYBPC3	Uncertain significance	1188736507	RCV001190058\|RCV002261298\|RCV002491567\|RCV002560072;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phenotype Ontology:	11	47359327	47359327	11:g.47359327G>A	-
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr)	4607	MYBPC3	Uncertain significance	368104687	RCV000035486\|RCV000148678\|RCV000415709\|RCV000415662\|RCV000766349\|RCV000770335\|RCV001071057\|RCV002504874;	N	MedGen:CN169374\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MedGen:CN517202\|Human Phenotype Ontol	11	47359334	47359334	11:g.47359334C>T	ClinGen:CA012113	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2308+18C>G	4607	MYBPC3	Benign	3729948	RCV000168797\|RCV000616888\|RCV001682879\|RCV002054004;	N	MedGen:CN169374\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47360053	47360053	NC_000011.9:g.47360053G>C	ClinGen:CA011991	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2308+12C>T	4607	MYBPC3	Benign/Likely benign	727505335	RCV000156885\|RCV000625308\|RCV002515039;	N	MedGen:CN169374\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47360059	47360059	11:g.47360059G>A	ClinGen:CA011984	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)	4607	MYBPC3	Conflicting interpretations of pathogenicity	36211723	RCV000161126\|RCV000205565\|RCV000252505\|RCV000515442\|RCV000788331\|RCV000845356\|RCV001262771\|RCV001804166;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM	11	47360071	47360071	11:g.47360071C>T	ClinGen:CA012015	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.2273G>A (p.Gly758Asp)	4607	MYBPC3	Conflicting interpretations of pathogenicity	1163861044	RCV001177386\|RCV001232370\|RCV001809988;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47360106	47360106	11:g.47360106C>T	-
NM_000256.3(MYBPC3):c.2246A>G (p.Tyr749Cys)	4607	MYBPC3	Conflicting interpretations of pathogenicity	1464769206	RCV001103118\|RCV001103117\|RCV001856400;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47360133	47360133	11:g.47360133T>C	-
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly)	4607	MYBPC3	Uncertain significance	727503190	RCV000023053\|RCV000151101\|RCV000201877\|RCV003149574;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848	11	47360145	47360145	11:g.47360145T>C	ClinGen:CA011923,OMIM:600958.0021	C3495498 192600 Familial hypertrophic cardiomyopathy 1;
NM_000256.3(MYBPC3):c.2210C>T (p.Thr737Met)	4607	MYBPC3	Conflicting interpretations of pathogenicity	199893357	RCV000035476\|RCV000172009\|RCV000558691\|RCV001103120\|RCV001103119\|RCV001180297;	N	MedGen:CN169374\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54	11	47360169	47360169	11:g.47360169G>A	ClinGen:CA011903	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His)	4607	MYBPC3	Uncertain significance	534345197	RCV000158442\|RCV000611582\|RCV000770336\|RCV001047239\|RCV002426775\|RCV002492621;	N	MedGen:C3661900\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|	11	47360181	47360181	11:g.47360181C>T	ClinGen:CA011887	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys)	4607	MYBPC3	Uncertain significance	397515956	RCV000035475\|RCV000227952\|RCV000515397\|RCV000677325\|RCV000766347\|RCV001188106\|RCV002426551;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:	11	47360182	47360182	11:g.47360182G>A	ClinGen:CA011877,UniProtKB:Q14896#VAR_029410	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.2149-5C>A	4607	MYBPC3	Conflicting interpretations of pathogenicity	36211722	RCV001105026\|RCV001105027\|RCV001246522;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47360235	47360235	11:g.47360235G>T	-
NM_000256.3(MYBPC3):c.2149-80G>A	4607	MYBPC3	Uncertain significance	1041197781	RCV001362137\|RCV002493848;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47360310	47360310	47360310	-
NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser)	4607	MYBPC3	Conflicting interpretations of pathogenicity	771753579	RCV000779062\|RCV001220265\|RCV001525936\|RCV002269311\|RCV002493424\|RCV003166065;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN517202\|	11	47360946	47360946	NC_000011.9:g.47360946C>A	-
NM_000256.3(MYBPC3):c.2063C>A (p.Thr688Lys)	4607	MYBPC3	Uncertain significance	3729946	RCV000158137\|RCV001178351\|RCV002415691\|RCV002492619\|RCV002516379;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phe	11	47361206	47361206	11:g.47361206G>T	ClinGen:CA011701	CN169374 not specified;
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His)	4607	MYBPC3	Conflicting interpretations of pathogenicity	727503191	RCV000151106\|RCV000201899\|RCV000621094\|RCV000628998\|RCV000766737\|RCV000988543;	N	MedGen:CN169374\|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47361266	47361266	11:g.47361266C>T	ClinGen:CA011643,UniProtKB:Q14896#VAR_029408	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1991G>T (p.Gly664Val)	4607	MYBPC3	Uncertain significance	2095886397	RCV001105028\|RCV001105029\|RCV001327250;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47361278	47361278	11:g.47361278C>A	-
NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr)	4607	MYBPC3	Uncertain significance	397515941	RCV000035458\|RCV000252578\|RCV000814323\|RCV001557718\|RCV002490476;	N	MedGen:CN169374\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet	11	47361293	47361293	11:g.47361293A>G	ClinGen:CA011581	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1899G>A (p.Glu633=)	4607	MYBPC3	Conflicting interpretations of pathogenicity	1206508060	RCV001181740\|RCV003163421\|RCV003329172;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47362582	47362582	11:g.47362582C>T	-
NM_000256.3(MYBPC3):c.1897+3G>A	4607	MYBPC3	Uncertain significance	937023392	RCV000554063\|RCV001176061\|RCV002481744\|RCV003159714;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014	11	47362686	47362686	NC_000011.9:g.47362686C>T	ClinGen:CA221694008	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys)	4607	MYBPC3	Conflicting interpretations of pathogenicity	200352299	RCV000148660\|RCV000154222\|RCV000415642\|RCV000415700\|RCV000618130\|RCV000721102\|RCV000776188\|RCV001086590;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:CN169374\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MedGen:CN230736\|MedGen:C3661900\|Human	11	47362731	47362731	11:g.47362731C>T	ClinGen:CA011336	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)	4607	MYBPC3	Conflicting interpretations of pathogenicity	730880555	RCV000244596\|RCV000615268\|RCV000600155\|RCV000695616\|RCV000769326\|RCV001706060;	N	MedGen:CN230736\|MedGen:CN169374\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,	11	47362755	47362755	NC_000011.9:g.47362755C>T	ClinGen:CA011308	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1822C>G (p.Pro608Ala)	4607	MYBPC3	Uncertain significance	730880552	RCV001106187\|RCV001106186\|RCV001318764;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47362764	47362764	11:g.47362764G>C	-
NM_000256.3(MYBPC3):c.1809T>G (p.Ile603Met)	4607	MYBPC3	Uncertain significance	774348756	RCV001039165\|RCV001799030\|RCV002481870;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014	11	47362777	47362777	11:g.47362777A>C	-
NM_000256.3(MYBPC3):c.1790+7G>A	4607	MYBPC3	Benign/Likely benign	374852831	RCV000035434\|RCV000198260\|RCV000605114\|RCV001106190\|RCV001610311;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MedGen:C3661	11	47363535	47363535	11:g.47363535C>T	ClinGen:CA011126	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His)	4607	MYBPC3	Uncertain significance	397515923	RCV000035430\|RCV000534792\|RCV000589649\|RCV000611149\|RCV000620960\|RCV001177054;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,	11	47363566	47363566	11:g.47363566C>T	ClinGen:CA011050	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1669G>T (p.Gly557Cys)	4607	MYBPC3	Uncertain significance	730880693	RCV001730069;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47363663	47363663	47363663	-
NM_000256.3(MYBPC3):c.1664T>C (p.Met555Thr)	4607	MYBPC3	Conflicting interpretations of pathogenicity	730880692	RCV000158434\|RCV001035559\|RCV001180562\|RCV001196344\|RCV002390380;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|	11	47363668	47363668	NC_000011.9:g.47363668A>G	ClinGen:CA010870	CN169374 not specified;
NM_000256.3(MYBPC3):c.1638G>A (p.Glu546=)	4607	MYBPC3	Conflicting interpretations of pathogenicity	976630639	RCV001108400\|RCV001108399\|RCV001447842;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47363694	47363694	11:g.47363694C>T	-
NM_000256.3(MYBPC3):c.1624+13G>A	4607	MYBPC3	Benign/Likely benign	397515913	RCV000035418\|RCV002054560\|RCV002490474;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47364116	47364116	11:g.47364116C>T	ClinGen:CA010739	CN169374 not specified;
NM_000256.3(MYBPC3):c.1624+13G>C	4607	MYBPC3	Conflicting interpretations of pathogenicity	397515913	RCV000423613\|RCV001103223\|RCV001103224\|RCV002063656;	N	MedGen:CN169374\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47364116	47364116	11:g.47364116C>G	ClinGen:CA078209	CN169374 not specified;
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=)	4607	MYBPC3	Conflicting interpretations of pathogenicity	200224422	RCV000035415\|RCV000205961\|RCV000252863\|RCV000599760\|RCV000771165\|RCV001083105\|RCV001103225;	N	MedGen:CN169374\|MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,	11	47364145	47364145	11:g.47364145A>T	ClinGen:CA010731	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=)	4607	MYBPC3	Likely benign	727503199	RCV000151123\|RCV000608015\|RCV000620223\|RCV001182269\|RCV001410296\|RCV001719935;	N	MedGen:CN169374\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,	11	47364160	47364160	11:g.47364160C>T	ClinGen:CA010688	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1585A>T (p.Thr529Ser)	4607	MYBPC3	Uncertain significance	1165486681	RCV001340473\|RCV002486373;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47364168	47364168	47364168	-
NM_000256.3(MYBPC3):c.1578A>G (p.Ala526=)	4607	MYBPC3	Likely benign	766721220	RCV001179655\|RCV002497630;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47364175	47364175	11:g.47364175T>C	-
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=)	4607	MYBPC3	Conflicting interpretations of pathogenicity	376041792	RCV000035412\|RCV000488261\|RCV000625309\|RCV000771847\|RCV001081419\|RCV001103226\|RCV002399368;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,	11	47364187	47364187	11:g.47364187C>T	ClinGen:CA010646	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.1565C>T (p.Ala522Val)	4607	MYBPC3	Uncertain significance	370362589	RCV000244716\|RCV000439878\|RCV000460349\|RCV001711846\|RCV003224245;	N	MedGen:CN230736\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:C3661900\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet	11	47364188	47364188	11:g.47364188G>A	ClinGen:CA078174	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr)	4607	MYBPC3	Benign/Likely benign	11570082	RCV000035411\|RCV000148655\|RCV000620493\|RCV000625025\|RCV000770363\|RCV001086680\|RCV001725941;	N	MedGen:CN169374\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phe	11	47364189	47364189	11:g.47364189C>T	ClinGen:CA010634,UniProtKB:Q14896#VAR_020573	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1540A>G (p.Ile514Val)	4607	MYBPC3	Uncertain significance	727503200	RCV000151127\|RCV002498697;	N	MedGen:CN169374\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47364213	47364213	11:g.47364213T>C	ClinGen:CA010593	CN169374 not specified;
NM_000256.3(MYBPC3):c.1521G>A (p.Gly507=)	4607	MYBPC3	Likely benign	1235816440	RCV001189796\|RCV002491564;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47364232	47364232	11:g.47364232C>T	-
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)	4607	MYBPC3	Conflicting interpretations of pathogenicity	35736435	RCV000035409\|RCV000148661\|RCV000242061\|RCV000490352\|RCV000587761\|RCV000776189\|RCV000852652\|RCV001081053;	N	MedGen:CN169374\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:	11	47364234	47364234	11:g.47364234C>T	ClinGen:CA010550,UniProtKB:Q14896#VAR_029401	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)	4607	MYBPC3	Conflicting interpretations of pathogenicity	727504287	RCV000154300\|RCV000201476\|RCV000536227\|RCV000620866\|RCV000770364\|RCV001256770\|RCV001699132\|RCV003458346;	N	MedGen:CN169374\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,	11	47364238	47364240	11:g.47364238_47364240del	ClinGen:CA010525	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1499A>C (p.Lys500Thr)	4607	MYBPC3	Uncertain significance	761672176	RCV000814699\|RCV002495145;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47364254	47364254	11:g.47364254T>G	-
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)	4607	MYBPC3	Uncertain significance	200625851	RCV000035402\|RCV000054800\|RCV000054834\|RCV000148662\|RCV000231699\|RCV000621932\|RCV000770366\|RCV000994632\|RCV002477066\|RCV002508761;	N	MedGen:CN169374\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|Human Phenotype Ontology:HP:0001639,M	11	47364285	47364285	11:g.47364285C>T	ClinGen:CA010424,UniProtKB:Q14896#VAR_029400,OMIM:600958.0026	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=)	4607	MYBPC3	Benign/Likely benign	35690719	RCV000035401\|RCV000232444\|RCV000611831\|RCV001186655\|RCV001311764\|RCV002390141;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|	11	47364286	47364286	11:g.47364286G>A	ClinGen:CA010416	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.1458-6G>A	4607	MYBPC3	Conflicting interpretations of pathogenicity	375347534	RCV000035399\|RCV000157325\|RCV000230101\|RCV000600435\|RCV000766336\|RCV000770369;	N	MedGen:CN169374\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517	11	47364301	47364301	11:g.47364301C>T	ClinGen:CA010391	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.1458-17C>T	4607	MYBPC3	Benign/Likely benign	3729945	RCV000606465\|RCV001610478\|RCV001706097\|RCV002054003;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47364312	47364312	NC_000011.9:g.47364312G>A	ClinGen:CA010366	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.1457+4A>G	4607	MYBPC3	Uncertain significance	886039119	RCV000250995\|RCV001246120\|RCV001798756\|RCV003338490;	N	MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47364377	47364377	11:g.47364377T>C	ClinGen:CA10587729	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1454A>G (p.Lys485Arg)	4607	MYBPC3	Uncertain significance	1185871136	RCV001372260\|RCV002493895\|RCV003169913;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736	11	47364384	47364384	47364384	-
NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val)	4607	MYBPC3	Uncertain significance	370285346	RCV000151137\|RCV000475321\|RCV000578047\|RCV000578099\|RCV000766331\|RCV001181073\|RCV002390323;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:C3661	11	47364393	47364393	11:g.47364393G>A	ClinGen:CA010308	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.1432_1436delinsGC (p.Ser478_Glu479delinsAla)	4607	MYBPC3	Uncertain significance	2142861363	RCV001706802;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47364402	47364406	47364402	-
NM_000256.3(MYBPC3):c.1386C>A (p.Asp462Glu)	4607	MYBPC3	Uncertain significance	1213818614	RCV000688287\|RCV002223907\|RCV002493161;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47364452	47364452	NC_000011.9:g.47364452G>T	-	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.1375C>T (p.Pro459Ser)	4607	MYBPC3	Uncertain significance	758901980	RCV001171141\|RCV001306494\|RCV002497602;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014	11	47364463	47364463	11:g.47364463G>A	-
NM_000256.3(MYBPC3):c.1363C>T (p.Leu455Phe)	4607	MYBPC3	Uncertain significance	747686377	RCV000988544\|RCV001177641\|RCV001858694\|RCV002382223\|RCV002497279;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230736\|	11	47364475	47364475	11:g.47364475G>A	-
NM_000256.3(MYBPC3):c.1357C>T (p.Pro453Ser)	4607	MYBPC3	Conflicting interpretations of pathogenicity	749310275	RCV000201491\|RCV002381692;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736	11	47364481	47364481	11:g.47364481G>A	ClinGen:CA277675	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.1357C>G (p.Pro453Ala)	4607	MYBPC3	Uncertain significance	749310275	RCV000622230\|RCV001207969\|RCV002483700;	N	MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47364481	47364481	NC_000011.9:g.47364481G>C	ClinGen:CA078043	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1355C>A (p.Pro452His)	4607	MYBPC3	Uncertain significance	730880536	RCV000158077\|RCV001804872\|RCV002492618;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47364483	47364483	NC_000011.9:g.47364483G>T	ClinGen:CA010163	CN169374 not specified;
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)	4607	MYBPC3	Conflicting interpretations of pathogenicity	193922377	RCV000030279\|RCV000035382\|RCV000545018\|RCV000603246\|RCV000618738\|RCV000656154\|RCV000656916\|RCV001105138\|RCV001175840\|RCV001256763;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230	11	47364602	47364602	11:g.47364602C>T	ClinGen:CA010097	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1238A>G (p.Glu413Gly)	4607	MYBPC3	Uncertain significance	730880532	RCV000158069\|RCV000223683\|RCV001850204\|RCV002478475;	N	MedGen:CN517202\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54	11	47364685	47364685	NC_000011.9:g.47364685T>C	ClinGen:CA009969	CN517202 not provided;
NM_000256.3(MYBPC3):c.1223+29G>A	4607	MYBPC3	Benign	11570078	RCV000168767\|RCV001711341\|RCV001775659\|RCV001775658;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47365014	47365014	NC_000011.9:g.47365014C>T	ClinGen:CA009901	CN169374 not specified;
NM_000256.3(MYBPC3):c.1219G>C (p.Gly407Arg)	4607	MYBPC3	Uncertain significance	727505266	RCV000656221\|RCV002476259;	N	Human Phenotype Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200, Orphanet:907\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47365047	47365047	11:g.47365047C>G	ClinGen:CA380328444	C0043202 194200 Wolff-Parkinson-White pattern;
NM_000256.3(MYBPC3):c.1167C>G (p.Asp389Glu)	4607	MYBPC3	Uncertain significance	1292522713	RCV001805413\|RCV002489855\|RCV002542399;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phenotype Ontology:HP:0001639,MONDO	11	47365099	47365099	47365099	-
NM_000256.3(MYBPC3):c.1152C>T (p.Thr384=)	4607	MYBPC3	Conflicting interpretations of pathogenicity	775237084	RCV001105140\|RCV001105139\|RCV001442526\|RCV001189080\|RCV002348560;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:	11	47365114	47365114	11:g.47365114G>A	-
NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val)	4607	MYBPC3	Conflicting interpretations of pathogenicity	11570077	RCV000158334\|RCV000988546\|RCV001227943\|RCV002453543;	N	MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230736	11	47365119	47365119	11:g.47365119G>C	ClinGen:CA009817,UniProtKB:Q14896#VAR_020571	CN517202 not provided;
NM_000256.3(MYBPC3):c.1123G>A (p.Val375Met)	4607	MYBPC3	Uncertain significance	727503208	RCV000151143\|RCV001215230\|RCV001836739\|RCV002433651\|RCV002478426;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet	11	47365143	47365143	11:g.47365143C>T	ClinGen:CA009805	CN169374 not specified;
NM_000256.3(MYBPC3):c.1113G>A (p.Pro371=)	4607	MYBPC3	Conflicting interpretations of pathogenicity	886048380	RCV000269773\|RCV000365569\|RCV003165828;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MedGen:CN230736	11	47365153	47365153	NC_000011.9:g.47365153C>T	ClinGen:CA10638736	CN239310 Dilated Cardiomyopathy, Dominant;
NM_000256.3(MYBPC3):c.1091-24C>T	4607	MYBPC3	Benign	2856650	RCV000168765\|RCV001610477\|RCV001775657\|RCV001775656;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47365199	47365199	NC_000011.9:g.47365199G>A	ClinGen:CA009775	CN169374 not specified;
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly)	4607	MYBPC3	Conflicting interpretations of pathogenicity	730880633	RCV000158330\|RCV000988547;	N	MedGen:C3661900\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47367764	47367764	11:g.47367764T>C	ClinGen:CA009745	CN517202 not provided;
NM_000256.3(MYBPC3):c.1021G>A (p.Gly341Ser)	4607	MYBPC3	Uncertain significance	397515881	RCV000035364\|RCV000703423\|RCV000766320\|RCV001106266\|RCV001106267\|RCV001190893\|RCV003362669;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:C3661900\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54	11	47367827	47367827	11:g.47367827C>T	ClinGen:CA009692	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.1010C>T (p.Ala337Val)	4607	MYBPC3	Uncertain significance	1356431718	RCV001197652\|RCV001806039;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848	11	47367838	47367838	11:g.47367838G>A	-
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=)	4607	MYBPC3	Likely benign	397515880	RCV000035363\|RCV000241564\|RCV000607104\|RCV000629171\|RCV000769353\|RCV001711147;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,	11	47367840	47367840	11:g.47367840G>A	ClinGen:CA009683	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)	4607	MYBPC3	Conflicting interpretations of pathogenicity	573916965	RCV000154555\|RCV000405438\|RCV000656915\|RCV000777780\|RCV000778105\|RCV000845545\|RCV001084890\|RCV002336316;	N	MedGen:CN169374\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phe	11	47367848	47367848	11:g.47367848C>T	ClinGen:CA009667,UniProtKB:Q14896#VAR_074539	CN239310 Dilated Cardiomyopathy, Dominant;
NM_000256.3(MYBPC3):c.994G>A (p.Glu332Lys)	4607	MYBPC3	Uncertain significance	397516086	RCV000035691\|RCV000628961\|RCV000766319\|RCV000988548\|RCV001188895;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:C3661900\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,	11	47367854	47367854	11:g.47367854C>T	ClinGen:CA016247	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.926+8C>T	4607	MYBPC3	Conflicting interpretations of pathogenicity	377595584	RCV000035680\|RCV000457720\|RCV000625028\|RCV001081892\|RCV001108497\|RCV001170204;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54	11	47368170	47368170	11:g.47368170G>A	ClinGen:CA016105	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.909-18C>G	4607	MYBPC3	Uncertain significance	-1	RCV003333946;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47368213	47368213		-
NM_000256.3(MYBPC3):c.906-7G>T	4607	MYBPC3	Conflicting interpretations of pathogenicity	397516079	RCV000035676\|RCV000530779\|RCV000625029\|RCV000770373\|RCV001083307;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,	11	47368587	47368587	11:g.47368587C>A	ClinGen:CA016032	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.905+1G>T	4607	MYBPC3	Conflicting interpretations of pathogenicity	767698543	RCV000694634\|RCV000709743\|RCV001191952\|RCV001843541\|RCV003163186;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN517202\|	11	47368976	47368976	NC_000011.9:g.47368976C>A	-	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.901A>C (p.Lys301Gln)	4607	MYBPC3	Uncertain significance	730880629	RCV002040592\|RCV002486677;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47368981	47368981	47368981	-
NM_000256.3(MYBPC3):c.852-14G>T	4607	MYBPC3	Conflicting interpretations of pathogenicity	751278539	RCV001108498\|RCV001108499\|RCV001189194\|RCV002556122;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO	11	47369044	47369044	11:g.47369044C>A	-
NM_000256.3(MYBPC3):c.852-20C>A	4607	MYBPC3	Benign/Likely benign	371941585	RCV000625312\|RCV001700420\|RCV001702821\|RCV002531918;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN169374\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47369050	47369050	NC_000011.9:g.47369050G>T	ClinGen:CA057173	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln)	4607	MYBPC3	Conflicting interpretations of pathogenicity	11570060	RCV000628952\|RCV000764976\|RCV001179126\|RCV001700428\|RCV002413789;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phenotype Ontology:HP:	11	47369211	47369211	NC_000011.9:g.47369211C>T	ClinGen:CA057054	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu)	4607	MYBPC3	Benign	147315081	RCV000035673\|RCV000512634\|RCV000618768\|RCV000625031\|RCV001086874\|RCV001711096;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,	11	47369220	47369220	11:g.47369220C>T	ClinGen:CA015928,UniProtKB:Q14896#VAR_019891	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.821+6T>C	4607	MYBPC3	Uncertain significance	2095895947	RCV001211571\|RCV002484152;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47369402	47369402	11:g.47369402A>G	-
NM_000256.3(MYBPC3):c.821+5G>A	4607	MYBPC3	Conflicting interpretations of pathogenicity	397516077	RCV000598548\|RCV000768466\|RCV000770376\|RCV000009138;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47369403	47369403	11:g.47369403C>T	ClinGen:CA015909,OMIM:600958.0005	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.821C>T (p.Thr274Met)	4607	MYBPC3	Uncertain significance	748746951	RCV001049486\|RCV001170207\|RCV002479306;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014	11	47369408	47369408	11:g.47369408G>A	-
NM_000256.3(MYBPC3):c.817C>T (p.Arg273Cys)	4607	MYBPC3	Uncertain significance	551119259	RCV000526965\|RCV000988550\|RCV001190480\|RCV002431510;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN230736	11	47369412	47369412	11:g.47369412G>A	ClinGen:CA056908	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.808G>A (p.Ala270Thr)	4607	MYBPC3	Uncertain significance	775337081	RCV000767340;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47369421	47369421	NC_000011.9:g.47369421C>T	-
NM_000256.3(MYBPC3):c.773-18T>C	4607	MYBPC3	Benign/Likely benign	755484970	RCV002167772\|RCV002494054;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47369474	47369474	47369474	-
NM_000256.3(MYBPC3):c.772+10C>T	4607	MYBPC3	Conflicting interpretations of pathogenicity	375525278	RCV000035665\|RCV000629105\|RCV001103318\|RCV001103317;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47369965	47369965	11:g.47369965G>A	ClinGen:CA015798	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.768C>A (p.Val256=)	4607	MYBPC3	Conflicting interpretations of pathogenicity	886048382	RCV000292693\|RCV000387007\|RCV001454686;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47369979	47369979	NC_000011.9:g.47369979G>T	ClinGen:CA10639340	CN239310 Dilated Cardiomyopathy, Dominant;
NM_000256.3(MYBPC3):c.727A>C (p.Thr243Pro)	4607	MYBPC3	Uncertain significance	730880625	RCV000158309\|RCV000810275\|RCV002381515\|RCV002484971;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54	11	47370020	47370020	NC_000011.9:g.47370020T>G	ClinGen:CA015760	CN169374 not specified;
NM_000256.3(MYBPC3):c.721G>A (p.Val241Met)	4607	MYBPC3	Uncertain significance	886039000	RCV000484993\|RCV000622157\|RCV002481499;	N	MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47370026	47370026	11:g.47370026C>T	ClinGen:CA16619344	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)	4607	MYBPC3	Conflicting interpretations of pathogenicity	727504396	RCV000154567\|RCV000198900\|RCV000615468\|RCV000766313\|RCV000771899\|RCV002362810\|RCV002498743;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,	11	47370034	47370034	11:g.47370034C>T	ClinGen:CA015750	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.684T>G (p.Asp228Glu)	4607	MYBPC3	Conflicting interpretations of pathogenicity	532498780	RCV000774118\|RCV001105223\|RCV001105222\|RCV002061083\|RCV002360884;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO	11	47370063	47370063	NC_000011.9:g.47370063A>C	-
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn)	4607	MYBPC3	Uncertain significance	369300885	RCV000148665\|RCV000158305\|RCV000705428\|RCV000988552\|RCV001191840\|RCV001262770\|RCV002362783;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenot	11	47370065	47370065	11:g.47370065C>T	ClinGen:CA015709,UniProtKB:Q14896#VAR_029394	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.681C>T (p.Thr227=)	4607	MYBPC3	Likely benign	756894628	RCV000909926\|RCV001804897\|RCV002492685;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014	11	47370066	47370066	11:g.47370066G>A	ClinGen:CA015700
NM_000256.3(MYBPC3):c.655-18G>A	4607	MYBPC3	Benign	113249211	RCV000612295\|RCV001533914\|RCV001706096\|RCV002054001;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47370110	47370110	NC_000011.9:g.47370110C>T	ClinGen:CA015655	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.655-25A>G	4607	MYBPC3	Likely benign	-1	RCV003323335;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47370117	47370117		-
NM_000256.3(MYBPC3):c.654+18G>A	4607	MYBPC3	Benign/Likely benign	758836172	RCV000616089\|RCV001640257\|RCV001706095\|RCV002054000;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517202\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47371307	47371307	11:g.47371307C>T	ClinGen:CA015632	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.648C>T (p.Ala216=)	4607	MYBPC3	Conflicting interpretations of pathogenicity	777418402	RCV000462567\|RCV000771996\|RCV001106359\|RCV001105226\|RCV001415217\|RCV001729580\|RCV003298429;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:	11	47371331	47371331	11:g.47371331G>A	ClinGen:CA056211	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.645C>T (p.Arg215=)	4607	MYBPC3	Likely benign	397516064	RCV000035654\|RCV000551416\|RCV000625032\|RCV001178612\|RCV001729359\|RCV002362620;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|	11	47371334	47371334	11:g.47371334G>A	ClinGen:CA015597	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys)	4607	MYBPC3	Conflicting interpretations of pathogenicity	397516063	RCV000035653\|RCV000245767\|RCV000463175\|RCV000988553\|RCV000852654\|RCV002251947\|RCV003133121;	N	MedGen:CN169374\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,	11	47371336	47371336	11:g.47371336G>A	ClinGen:CA015589	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn)	4607	MYBPC3	Conflicting interpretations of pathogenicity	769167548	RCV000172012\|RCV000201486\|RCV001071640\|RCV001177404\|RCV003298211;	N	MedGen:CN517202\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|	11	47371339	47371339	11:g.47371339C>T	ClinGen:CA015585	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.630C>T (p.His210=)	4607	MYBPC3	Likely benign	762695516	RCV001192105\|RCV001489995\|RCV002365886\|RCV002497672;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197;	11	47371349	47371349	11:g.47371349G>A	-
NM_000256.3(MYBPC3):c.626T>C (p.Leu209Pro)	4607	MYBPC3	Uncertain significance	1595849592	RCV000790475;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47371353	47371353	11:g.47371353A>G	-
NM_000256.3(MYBPC3):c.592G>A (p.Asp198Asn)	4607	MYBPC3	Uncertain significance	2095898499	RCV001190752\|RCV002491574;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47371387	47371387	11:g.47371387C>T	-
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile)	4607	MYBPC3	Benign/Likely benign	11570052	RCV000030292\|RCV000035648\|RCV000172560\|RCV000247261\|RCV000610786\|RCV000776040\|RCV000852655\|RCV001080991\|RCV001106363;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:CN169374\|MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:	11	47371414	47371414	11:g.47371414C>T	ClinGen:CA015490,UniProtKB:Q14896#VAR_020568	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=)	4607	MYBPC3	Benign/Likely benign	370962887	RCV000035647\|RCV000625033\|RCV000771379\|RCV000862241\|RCV001106364\|RCV001711095\|RCV002345275;	N	MedGen:CN169374\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|	11	47371421	47371421	11:g.47371421C>A	ClinGen:CA015485	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=)	4607	MYBPC3	Conflicting interpretations of pathogenicity	368035400	RCV000158065\|RCV000456567\|RCV000620111\|RCV000607586\|RCV001108570\|RCV001170214;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54	11	47371448	47371448	11:g.47371448G>A	ClinGen:CA015422	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His)	4607	MYBPC3	Benign/Likely benign	201012766	RCV000035642\|RCV000148657\|RCV000224311\|RCV000248370\|RCV000625034\|RCV000776191\|RCV001082260\|RCV001108571;	N	MedGen:CN169374\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:	11	47371449	47371449	11:g.47371449C>T	ClinGen:CA015406	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)	4607	MYBPC3	Conflicting interpretations of pathogenicity	193922385	RCV000030291\|RCV000151166\|RCV000577978\|RCV000577949\|RCV000619236\|RCV000628933\|RCV000766310\|RCV001180813;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:CN169374\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MedGen:CN230736\|Human Phenotype Ontol	11	47371450	47371450	11:g.47371450G>A	ClinGen:CA015398	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.506-12del	4607	MYBPC3	Benign/Likely benign	11570050	RCV000035638\|RCV000299971\|RCV000406222\|RCV000599992\|RCV000775979\|RCV001703458\|RCV001775549;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0011664,MedGen:C4021133\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,	11	47371485	47371485	11:g.47371485_47371485del	ClinGen:CA015304	CN239310 Dilated Cardiomyopathy, Dominant;
NM_000256.3(MYBPC3):c.506-17C>T	4607	MYBPC3	Benign/Likely benign	561595897	RCV000126918\|RCV000608237\|RCV001723696\|RCV002055685;	N	MedGen:CN169374\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47371490	47371490	NC_000011.9:g.47371490G>A	ClinGen:CA015327	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser)	4607	MYBPC3	Conflicting interpretations of pathogenicity	397516053	RCV000602854\|RCV001700169\|RCV002334031\|RCV002531733;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517202\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569	11	47371589	47371589	11:g.47371589G>A	ClinGen:CA380338514	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.450C>G (p.Pro150=)	4607	MYBPC3	Likely benign	377520770	RCV001428310\|RCV002336949\|RCV002502862;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260	11	47371620	47371620	11:g.47371620G>C	-
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)	4607	MYBPC3	Conflicting interpretations of pathogenicity	397516050	RCV000035627\|RCV000172015\|RCV000206268\|RCV000578062\|RCV000845519\|RCV001180295;	N	MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:	11	47371628	47371628	11:g.47371628C>T	ClinGen:CA015105	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.305C>T (p.Pro102Leu)	4607	MYBPC3	Uncertain significance	730880610	RCV000158274\|RCV000524970\|RCV000988556\|RCV000769365\|RCV002444655;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|	11	47372154	47372154	11:g.47372154G>A	ClinGen:CA013379	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.292+1G>A	4607	MYBPC3	Conflicting interpretations of pathogenicity	1433492944	RCV002001519\|RCV003339874\|RCV003150475;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848	11	47372789	47372789	47372789	-
NM_000256.3(MYBPC3):c.283A>C (p.Ile95Leu)	4607	MYBPC3	Uncertain significance	549758428	RCV001103398\|RCV001105313\|RCV002436705\|RCV002291720\|RCV002555009;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217	11	47372799	47372799	11:g.47372799T>G	-
NM_000256.3(MYBPC3):c.271G>A (p.Asp91Asn)	4607	MYBPC3	Uncertain significance	778851720	RCV000823877\|RCV001814243\|RCV002501147\|RCV003380755;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN517202\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230	11	47372811	47372811	11:g.47372811C>T	-
NM_000256.3(MYBPC3):c.251G>A (p.Gly84Asp)	4607	MYBPC3	Uncertain significance	569824900	RCV000988557\|RCV001246942\|RCV001179873;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848	11	47372831	47372831	11:g.47372831C>T	-
NM_000256.3(MYBPC3):c.238G>A (p.Ala80Thr)	4607	MYBPC3	Uncertain significance	730880700	RCV000158454\|RCV001181610\|RCV002426776\|RCV002484972\|RCV002515069;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phe	11	47372844	47372844	NC_000011.9:g.47372844C>T	ClinGen:CA012189	CN169374 not specified;
NM_000256.3(MYBPC3):c.237C>T (p.Tyr79=)	4607	MYBPC3	Conflicting interpretations of pathogenicity	730880698	RCV000617577\|RCV000777857\|RCV001105315\|RCV001105314\|RCV001454103;	N	MedGen:CN230736\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phenotype Ontology:	11	47372845	47372845	11:g.47372845G>A	ClinGen:CA049481	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn)	4607	MYBPC3	Conflicting interpretations of pathogenicity	375471260	RCV000148688\|RCV000154385\|RCV000201432\|RCV000497441\|RCV001181801\|RCV001576359;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MedGen:CN169374\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenot	11	47372859	47372859	11:g.47372859C>T	ClinGen:CA011926	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.194C>T (p.Thr65Met)	4607	MYBPC3	Conflicting interpretations of pathogenicity	753300898	RCV000468561\|RCV000602416\|RCV001183508\|RCV001700184\|RCV003155189;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN517202\|	11	47372888	47372888	NC_000011.9:g.47372888G>A	ClinGen:CA047700	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln)	4607	MYBPC3	Uncertain significance	549239819	RCV000802262\|RCV001178564\|RCV002408728\|RCV002505220;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197;	11	47372894	47372894	11:g.47372894C>T	ClinGen:CA011393
NM_000256.3(MYBPC3):c.133G>A (p.Gly45Arg)	4607	MYBPC3	Uncertain significance	775837337	RCV001180183\|RCV001702585\|RCV002379698\|RCV002483981\|RCV002558942;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|Human Phe	11	47372949	47372949	11:g.47372949C>T	-
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=)	4607	MYBPC3	Conflicting interpretations of pathogenicity	377579620	RCV000035390\|RCV000475647\|RCV000621916\|RCV001105318\|RCV001105319\|RCV001191836\|RCV001711364;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:CN230736\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54	11	47372950	47372950	11:g.47372950G>A	ClinGen:CA010107	CN230736 Cardiovascular phenotype;
NM_000256.3(MYBPC3):c.122G>A (p.Arg41His)	4607	MYBPC3	Uncertain significance	764849803	RCV000234241\|RCV001184028\|RCV002494621\|RCV003165596;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014	11	47372960	47372960	NC_000011.9:g.47372960C>T	ClinGen:CA043924	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln)	4607	MYBPC3	Uncertain significance	397515885	RCV000035368\|RCV000459433\|RCV000766304\|RCV000988558\|RCV001190894\|RCV002504873;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MedGen:C3661900\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,	11	47372978	47372978	11:g.47372978C>T	ClinGen:CA009727	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met)	4607	MYBPC3	Benign/Likely benign	776834755	RCV000197041\|RCV000777788\|RCV000988559\|RCV002426937\|RCV002503777;	N	Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN230736\|	11	47373000	47373000	11:g.47373000C>T	ClinGen:CA057025	C0007194 Hypertrophic cardiomyopathy;
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser)	4607	MYBPC3	Uncertain significance	730880573	RCV000158175\|RCV000609824\|RCV001352035\|RCV002505187;	N	MedGen:CN517202\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197; MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54	11	47373036	47373036	NC_000011.9:g.47373036G>A	ClinGen:CA015183	CN517202 not provided;
NM_000256.3(MYBPC3):c.35T>C (p.Phe12Ser)	4607	MYBPC3	Uncertain significance	1462884291	RCV002223494\|RCV002487024;	N	MedGen:C3661900\|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260; MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47373047	47373047	47373047	-
NM_000256.3(MYBPC3):c.12G>A (p.Pro4=)	4607	MYBPC3	Benign/Likely benign	377292092	RCV000035387\|RCV000530136\|RCV000625313\|RCV001088124\|RCV001184747\|RCV002381289;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,	11	47374187	47374187	11:g.47374187C>T	ClinGen:CA010051	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_000256.3(MYBPC3):c.-5T>G	4607	MYBPC3	Uncertain significance	886048383	RCV000310491\|RCV000406301;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47374203	47374203	NC_000011.9:g.47374203A>C	ClinGen:CA10639341	CN239310 Dilated Cardiomyopathy, Dominant;
NM_000256.3(MYBPC3):c.-34T>A	4607	MYBPC3	Uncertain significance	2095902050	RCV001106448\|RCV001106449;	N	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	11	47374232	47374232	11:g.47374232A>T	-
NM_000265.6(NCF1):c.*179G>A	653361	NCF1	Pathogenic	1057519503	RCV000416494;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	7	74203683	74203683	NC_000007.13:g.74203683G>A	ClinGen:CA16044276	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_001035.3(RYR2):c.8783A>G (p.Gln2928Arg)	6262	RYR2	Uncertain significance	1114167339	RCV000491281;	N	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	1	237838099	237838099	1:g.237838099A>G	ClinGen:CA345403340	C1861862 115197 Familial hypertrophic cardiomyopathy 4;
NM_003673.4(TCAP):c.260G>A (p.Arg87Gln)	8557	TCAP	Uncertain significance	121434298	RCV000005863\|RCV000490830\|RCV001753405\|RCV001851684;	N	MONDO:MONDO:0011843,MedGen:C4225408,OMIM:607487\|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197\|MedGen:CN517202\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155; MONDO:MONDO:0011843,MedGen:C4225408,OMIM:607487	17	37822118	37822118	17:g.37822118G>A	ClinGen:CA253520,UniProtKB:O15273#VAR_015397,OMIM:604488.0003	C1843791 607487 Dilated cardiomyopathy 1N;

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