"Blueprint Genetics"[submitter] AND "MYBPC3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 177888	NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp)	MYBPC3	Single nucleotide variant (stop lost)	not provided +1 more	GUncertain significance
Select item 42746	NM_000256.3(MYBPC3):c.3815-1G>A	MYBPC3	Single nucleotide variant (splice acceptor variant)	Primary familial hypertrophic cardiomyopathy +4 more	GLikely pathogenic
Select item 578052	NM_000256.3(MYBPC3):c.3815-11_3815-9del	MYBPC3	Microsatellite (intron variant)	not provided +2 more	GUncertain significance
Select item 222711	NM_000256.3(MYBPC3):c.3814+2T>C	MYBPC3	Single nucleotide variant (splice donor variant)	Primary familial hypertrophic cardiomyopathy	GLikely pathogenic
Select item 636623	NM_000256.3(MYBPC3):c.3812G>C (p.Arg1271Pro)	MYBPC3 (R1271P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 42744	NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)	MYBPC3 (R1271*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction 10 +7 more	GPathogenic/Likely pathogenic
Select item 180415	NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His)	MYBPC3 (R1267H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 180414	NM_000256.3(MYBPC3):c.3781G>A (p.Glu1261Lys)	MYBPC3 (E1261K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 181023	NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter)	MYBPC3 (L1258*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 188590	NM_000256.3(MYBPC3):c.3763del (p.Ala1255fs)	MYBPC3	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 164023	NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)	MYBPC3 (A1255T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 177653	NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val)	MYBPC3 (G1249V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 181019	NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter)	MYBPC3 (C1244*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +2 more	GPathogenic/Likely pathogenic
Select item 42735	NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	MYBPC3 (Q1233*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 636766	NM_000256.3(MYBPC3):c.3673G>A (p.Ala1225Thr)	MYBPC3 (A1225T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 636710	NM_000256.3(MYBPC3):c.3667_3668del (p.Glu1223fs)	MYBPC3 (E1223fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 636550	NM_000256.3(MYBPC3):c.3647A>G (p.Lys1216Arg)	MYBPC3 (K1216R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 42728	NM_000256.3(MYBPC3):c.3627+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +4 more	GPathogenic
Select item 42727	NM_000256.3(MYBPC3):c.3624delC	MYBPC3	Deletion	Primary familial hypertrophic cardiomyopathy +4 more	GPathogenic
Select item 181014	NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln)	MYBPC3 (R1205Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 164032	NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp)	MYBPC3 (R1205W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 636536	NM_000256.3(MYBPC3):c.3588C>A (p.Tyr1196Ter)	MYBPC3 (Y1196*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 524959	NM_000256.3(MYBPC3):c.3572C>T (p.Ser1191Leu)	MYBPC3 (S1191L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 177689	NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)	MYBPC3 (R1138H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GBenign/Likely benign
Select item 42712	NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)	MYBPC3 (R1138P)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 181102	NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)	MYBPC3 (Y1136del)	Microsatellite (inframe_deletion)	Brugada syndrome +8 more	GConflicting classifications of pathogenicity
Select item 36611	NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter)	MYBPC3 (Y1136*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 42711	NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)	MYBPC3 (I1131T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 222710	NM_000256.3(MYBPC3):c.3331-2A>C	MYBPC3	Single nucleotide variant (splice acceptor variant)	Primary familial hypertrophic cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 636466	NM_000256.3(MYBPC3):c.3331-8G>T	MYBPC3	Single nucleotide variant	not provided	GUncertain significance
Select item 42702	NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs)	MYBPC3 (Y1100fs)	Duplication	not provided +1 more	GPathogenic
Select item 164043	NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys)	MYBPC3 (G1093C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 373084	NM_000256.3(MYBPC3):c.3257G>A (p.Trp1086Ter)	MYBPC3 (W1086*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 42696	NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter)	MYBPC3 (E1085*)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 636530	NM_000256.3(MYBPC3):c.3232T>C (p.Trp1078Arg)	MYBPC3 (W1078R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180413	NM_000256.3(MYBPC3):c.3227A>G (p.Asp1076Gly)	MYBPC3 (D1076G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 42694	NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs)	MYBPC3 (D1076fs)	Insertion (frameshift variant)	Cardiovascular phenotype +4 more	GPathogenic
Select item 181096	NM_000256.3(MYBPC3):c.3217dupC	MYBPC3	Duplication	Hypertrophic cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 155808	NM_000256.3(MYBPC3):c.3190+5G>A	MYBPC3	Single nucleotide variant (intron variant)	Heart block +12 more	GPathogenic/Likely pathogenic
Select item 42691	NM_000256.3(MYBPC3):c.3190+2T>G	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 4 +6 more	GPathogenic
Select item 636501	NM_000256.3(MYBPC3):c.3188T>C (p.Val1063Ala)	MYBPC3 (V1063A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 42690	NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)	MYBPC3 (Q1061*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +5 more	GPathogenic
Select item 222702	NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter)	MYBPC3 (K1055*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 636723	NM_000256.3(MYBPC3):c.3157G>T (p.Glu1053Ter)	MYBPC3 (E1053*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 636807	NM_000256.3(MYBPC3):c.3150del (p.Asn1051fs)	MYBPC3 (N1051fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 181001	NM_000256.3(MYBPC3):c.3123C>T (p.Gly1041=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 180412	NM_000256.3(MYBPC3):c.3118T>G (p.Ser1040Ala)	MYBPC3 (S1040A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 426272	NM_000256.3(MYBPC3):c.3097C>T (p.Arg1033Trp)	MYBPC3 (R1033W)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +4 more	GUncertain significance
Select item 222709	NM_000256.3(MYBPC3):c.3043dup (p.Ala1015fs)	MYBPC3 (A1015fs)	Duplication (frameshift variant)	Left ventricular noncompaction 10 +2 more	GPathogenic/Likely pathogenic
Select item 177622	NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln)	MYBPC3 (R1002Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 570123	NM_000256.3(MYBPC3):c.2959G>A (p.Val987Ile)	MYBPC3 (V987I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 42671	NM_000256.3(MYBPC3):c.2938C>T (p.Arg980Cys)	MYBPC3 (R980C)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 180411	NM_000256.3(MYBPC3):c.2908C>T (p.Arg970Trp)	MYBPC3 (R970W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 42666	NM_000256.3(MYBPC3):c.2905+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiomyopathy +5 more	GPathogenic
Select item 42669	NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)	MYBPC3 (Q969*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +5 more	GPathogenic
Select item 42663	NC_000011.10:g.47335082_47335083del	MYBPC3	Deletion	Primary familial hypertrophic cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 37039	NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)	MYBPC3 (R943*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic
Select item 177766	NM_000256.3(MYBPC3):c.2737+1G>C	MYBPC3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 42656	NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)	MYBPC3 (P910T)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +8 more	GConflicting classifications of pathogenicity
Select item 42652	NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)	MYBPC3 (V896M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +8 more	GBenign/Likely benign
Select item 505010	NM_000256.3(MYBPC3):c.2623C>T (p.His875Tyr)	MYBPC3 (H875Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 42641	NM_000256.3(MYBPC3):c.2558del (p.Gly853fs)	MYBPC3	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 42639	NC_000011.10:g.47337436_47337437delinsAGA	MYBPC3 (G853fs)	Indel	Hypertrophic cardiomyopathy +3 more	GPathogenic
Select item 42636	NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter)	MYBPC3 (Y847*)	Single nucleotide variant (nonsense)	Cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 636943	NM_000256.3(MYBPC3):c.2526del (p.Val841_Tyr842insTer)	MYBPC3	Deletion (nonsense)	Hypertrophic cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 42626	NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)	MYBPC3 (A833T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 42625	NM_000256.3(MYBPC3):c.2490dup (p.His831fs)	MYBPC3 (H831fs)	Duplication	Hypertrophic cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 177700	NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)	MYBPC3 (K814del)	Microsatellite (inframe_deletion)	not specified +6 more	GUncertain significance
Select item 180968	NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu)	MYBPC3 (P794L)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 42619	NC_000011.10:g.47337730dup	MYBPC3 (W792fs)	Duplication	Cardiovascular phenotype +6 more	GPathogenic
Select item 36605	NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)	MYBPC3 (W792R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GPathogenic/Likely pathogenic
Select item 42615	NM_000256.3(MYBPC3):c.2311dup (p.Val771fs)	MYBPC3 (V771fs)	Duplication	Hypertrophic cardiomyopathy +4 more	GPathogenic
Select item 161308	NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)	MYBPC3 (V771M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GConflicting classifications of pathogenicity
Select item 42613	NM_000256.3(MYBPC3):c.2309-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	not provided +6 more	GPathogenic
Select item 42610	NM_000256.3(MYBPC3):c.2308+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 36604	NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)	MYBPC3 (D770N)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 180918	NM_000256.3(MYBPC3):c.2288A>G (p.Asn763Ser)	MYBPC3 (N763S)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 180964	NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met)	MYBPC3 (V727M)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 42599	NM_000256.3(MYBPC3):c.2149-5C>T	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4 +6 more	GBenign/Likely benign
Select item 222701	NM_000256.3(MYBPC3):c.2097del (p.Asp700fs)	MYBPC3 (D700fs)	Deletion (frameshift variant)	Primary familial hypertrophic cardiomyopathy	GLikely pathogenic
Select item 42596	NM_000256.3(MYBPC3):c.2096delC	MYBPC3	Deletion	Cardiovascular phenotype +5 more	GPathogenic
Select item 164090	NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His)	MYBPC3 (R668H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +6 more	GConflicting classifications of pathogenicity
Select item 180410	NM_000256.3(MYBPC3):c.1960C>G (p.Arg654Gly)	MYBPC3 (R654G)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 42586	NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu)	MYBPC3 (P645L)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 42585	NM_000256.3(MYBPC3):c.1928-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Primary familial hypertrophic cardiomyopathy +7 more	GPathogenic
Select item 222708	NM_000256.3(MYBPC3):c.1927+2T>C	MYBPC3	Single nucleotide variant (splice donor variant)	Primary familial hypertrophic cardiomyopathy	GLikely pathogenic
Select item 42582	NM_000256.3(MYBPC3):c.1897+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 180409	NM_000256.3(MYBPC3):c.1886T>C (p.Leu629Pro)	MYBPC3 (L629P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 164095	NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter)	MYBPC3 (C623*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 164096	NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys)	MYBPC3 (Y614C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 42575	NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)	MYBPC3 (D610N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 180953	NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val)	MYBPC3 (A609V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 42573	NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly)	MYBPC3 (D605G)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 42566	NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg)	MYBPC3 (G596R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 42562	NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln)	MYBPC3 (R574Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 180946	NM_000256.3(MYBPC3):c.1670G>A (p.Gly557Asp)	MYBPC3 (G557D)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 92689	NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs)	MYBPC3 (Y548fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 222707	NM_000256.3(MYBPC3):c.1625-1G>A	MYBPC3	Single nucleotide variant (splice acceptor variant)	Primary familial hypertrophic cardiomyopathy	GLikely pathogenic
Select item 42556	NM_000256.3(MYBPC3):c.1624+4A>T	MYBPC3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 8608	NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	MYBPC3 (E542Q)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic

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