ClinVar for MedGen (Select 811617) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382362	NM_000256.3(MYBPC3):c.3708_3709dup (p.Thr1237fs)	MYBPC3 (T1237fs)	Duplication (frameshift variant)	Left ventricular noncompaction 10 +1 more	GLikely pathogenic
Select item 3257731	NM_000256.3(MYBPC3):c.1102A>T (p.Lys368Ter)	MYBPC3 (K368*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +1 more	GLikely pathogenic
Select item 3069665	NM_000256.3(MYBPC3):c.2503C>T (p.Arg835Cys)	MYBPC3 (R835C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2627980	NM_000256.3(MYBPC3):c.2994G>T (p.Gln998His)	MYBPC3 (Q998H)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10	GUncertain significance
Select item 2584856	NM_000256.3(MYBPC3):c.1227-7C>T	MYBPC3	Single nucleotide variant (intron variant)	Left ventricular noncompaction 10	GUncertain significance
Select item 2582595	NM_000256.3(MYBPC3):c.226C>T (p.Gln76Ter)	MYBPC3 (Q76*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +2 more	GPathogenic
Select item 2075185	NM_000256.3(MYBPC3):c.2729del (p.Pro910fs)	MYBPC3 (P910fs)	Deletion (frameshift variant)	Left ventricular noncompaction 10 +2 more	GPathogenic
Select item 1802249	NM_000256.3(MYBPC3):c.1919C>A (p.Pro640His)	MYBPC3 (P640H)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10	GUncertain significance
Select item 1677813	NM_000256.3(MYBPC3):c.35T>C (p.Phe12Ser)	MYBPC3 (F12S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +2 more	GUncertain significance
Select item 1677564	NM_000256.3(MYBPC3):c.2543C>T (p.Ala848Val)	MYBPC3 (A848V)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +2 more	GUncertain significance
Select item 1545262	NM_000256.3(MYBPC3):c.773-18T>C	MYBPC3	Single nucleotide variant (intron variant)	Left ventricular noncompaction 10 +2 more	GBenign/Likely benign
Select item 1509120	NM_000256.3(MYBPC3):c.901A>C (p.Lys301Gln)	MYBPC3 (K301Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +2 more	GUncertain significance
Select item 1487885	NM_000256.3(MYBPC3):c.407-1G>A	MYBPC3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy +2 more	GLikely pathogenic
Select item 1468783	NM_000256.3(MYBPC3):c.2816G>C (p.Arg939Pro)	MYBPC3 (R939P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 1383870	NM_000256.3(MYBPC3):c.2788C>G (p.Leu930Val)	MYBPC3 (L930V)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +3 more	GUncertain significance
Select item 1332367	NM_000256.3(MYBPC3):c.1167C>G (p.Asp389Glu)	MYBPC3 (D389E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +3 more	GUncertain significance
Select item 1330863	NM_000256.3(MYBPC3):c.2849C>A (p.Ala950Glu)	MYBPC3 (A950E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +2 more	GUncertain significance
Select item 1172441	NM_000256.3(MYBPC3):c.3340A>G (p.Thr1114Ala)	MYBPC3 (T1114A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 1062531	NM_000256.3(MYBPC3):c.1454A>G (p.Lys485Arg)	MYBPC3 (K485R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +3 more	GUncertain significance
Select item 1053754	NM_000256.3(MYBPC3):c.2149-80G>A	MYBPC3	Single nucleotide variant (intron variant)	Left ventricular noncompaction 10 +2 more	GUncertain significance
Select item 1037338	NM_000256.3(MYBPC3):c.1585A>T (p.Thr529Ser)	MYBPC3 (T529S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 1028163	NM_000256.3(MYBPC3):c.1930C>T (p.Pro644Ser)	MYBPC3 (P644S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10	GUncertain significance
Select item 1028162	NM_000256.3(MYBPC3):c.1234T>C (p.Phe412Leu)	MYBPC3 (F412L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10	GUncertain significance
Select item 1005344	NM_000256.3(MYBPC3):c.3112G>A (p.Val1038Met)	MYBPC3 (V1038M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 982991	NM_000256.3(MYBPC3):c.493G>A (p.Glu165Lys)	MYBPC3 (E165K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 978729	NM_000256.3(MYBPC3):c.2711_2737del (p.Tyr904_Gly912del)	MYBPC3	Deletion (inframe_deletion)	Hypertrophic cardiomyopathy 4 +1 more	GLikely pathogenic
Select item 976255	NM_000256.3(MYBPC3):c.1549G>T (p.Ala517Ser)	MYBPC3 (A517S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 960010	NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter)	MYBPC3 (Y333*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +2 more	GPathogenic
Select item 941727	NM_000256.3(MYBPC3):c.821+6T>C	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 928311	NM_000256.3(MYBPC3):c.630C>T (p.His210=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 927445	NM_000256.3(MYBPC3):c.592G>A (p.Asp198Asn)	MYBPC3 (D198N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +2 more	GUncertain significance
Select item 927050	NM_000256.3(MYBPC3):c.2327C>T (p.Ala776Val)	MYBPC3 (A776V)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 927013	NM_000256.3(MYBPC3):c.372C>A (p.Ala124=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 926890	NM_000256.3(MYBPC3):c.1521G>A (p.Gly507=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 925428	NM_000256.3(MYBPC3):c.2915G>A (p.Arg972Gln)	MYBPC3 (R972Q)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 924466	NM_000256.3(MYBPC3):c.2198G>T (p.Arg733Leu)	MYBPC3 (R733L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 921244	NM_000256.3(MYBPC3):c.1227-9C>A	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4 +4 more	GConflicting classifications of pathogenicity
Select item 921040	NM_000256.3(MYBPC3):c.133G>A (p.Gly45Arg)	MYBPC3 (G45R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 920709	NM_000256.3(MYBPC3):c.1578A>G (p.Ala526=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 4 +2 more	GLikely benign
Select item 919921	NM_000256.3(MYBPC3):c.2399G>A (p.Gly800Glu)	MYBPC3 (G800E)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 919413	NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln)	MYBPC3 (R1271Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 918779	NM_000256.3(MYBPC3):c.1601C>T (p.Ala534Val)	MYBPC3 (A534V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 918284	NM_000256.3(MYBPC3):c.2708G>A (p.Gly903Asp)	MYBPC3 (G903D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 915781	NM_000256.3(MYBPC3):c.1375C>T (p.Pro459Ser)	MYBPC3 (P459S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 880308	NM_000256.3(MYBPC3):c.852-14G>T	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 880254	NM_000256.3(MYBPC3):c.1638G>A (p.Glu546=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 4 +2 more	GConflicting classifications of pathogenicity
Select item 880112	NM_000256.3(MYBPC3):c.3810G>A (p.Val1270=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 880111	NM_000256.3(MYBPC3):c.3815-12C>T	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 879187	NM_000256.3(MYBPC3):c.-34T>A	MYBPC3	Single nucleotide variant (5 prime UTR variant)	Left ventricular noncompaction 10 +1 more	GUncertain significance
Select item 879039	NM_000256.3(MYBPC3):c.1822C>G (p.Pro608Ala)	MYBPC3 (P608A)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +2 more	GUncertain significance
Select item 878934	NM_000256.3(MYBPC3):c.3301A>G (p.Thr1101Ala)	MYBPC3 (T1101A)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +2 more	GUncertain significance
Select item 878506	NM_000256.3(MYBPC3):c.1152C>T (p.Thr384=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 878445	NM_000256.3(MYBPC3):c.1991G>T (p.Gly664Val)	MYBPC3 (G664V)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 878444	NM_000256.3(MYBPC3):c.2149-5C>A	MYBPC3	Single nucleotide variant (intron variant)	Left ventricular noncompaction 10 +2 more	GConflicting classifications of pathogenicity
Select item 878342	NM_000256.3(MYBPC3):c.3615G>C (p.Arg1205=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 878300	NM_000256.3(MYBPC3):c.*212C>G	MYBPC3	Single nucleotide variant (3 prime UTR variant)	Left ventricular noncompaction 10 +1 more	GUncertain significance
Select item 878299	NM_000256.3(MYBPC3):c.*275G>A	MYBPC3	Single nucleotide variant (3 prime UTR variant)	Left ventricular noncompaction 10 +1 more	GUncertain significance
Select item 877568	NM_000256.3(MYBPC3):c.283A>C (p.Ile95Leu)	MYBPC3 (I95L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 877423	NM_000256.3(MYBPC3):c.2246A>G (p.Tyr749Cys)	MYBPC3 (Y749C)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +2 more	GConflicting classifications of pathogenicity
Select item 877369	NM_000256.3(MYBPC3):c.2901C>A (p.Ile967=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 861189	NM_000256.3(MYBPC3):c.1223+1G>T	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 846235	NM_000256.3(MYBPC3):c.821C>T (p.Thr274Met)	MYBPC3 (T274M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 840397	NM_000256.3(MYBPC3):c.3217C>T (p.Arg1073Trp)	MYBPC3 (R1073W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 837763	NM_000256.3(MYBPC3):c.1809T>G (p.Ile603Met)	MYBPC3 (I603M)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 812048	NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp)	MYBPC3 (E894D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 810763	NM_000256.3(MYBPC3):c.3452C>T (p.Ala1151Val)	MYBPC3 (A1151V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 802675	NM_000256.3(MYBPC3):c.1363C>T (p.Leu455Phe)	MYBPC3 (L455F)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 756994	NM_000256.3(MYBPC3):c.450C>G (p.Pro150=)	MYBPC3	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 10 +3 more	GLikely benign
Select item 696024	NM_000256.3(MYBPC3):c.150C>T (p.Ser50=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GLikely benign
Select item 692114	NM_000256.3(MYBPC3):c.1927+600C>T	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4 +1 more	GLikely pathogenic
Select item 689324	NM_000256.3(MYBPC3):c.121dup (p.Arg41fs)	MYBPC3 (R41fs)	Duplication (frameshift variant)	Left ventricular noncompaction 10	GLikely pathogenic
Select item 689323	NM_000256.3(MYBPC3):c.2432A>G (p.Lys811Arg)	MYBPC3 (K811R)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 689322	NM_000256.3(MYBPC3):c.51dup (p.Ser18fs)	MYBPC3 (S18fs)	Duplication (frameshift variant)	Left ventricular noncompaction 10 +1 more	GLikely pathogenic
Select item 668670	NM_000256.3(MYBPC3):c.1830C>T (p.Asp610=)	MYBPC3	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 665566	NM_000256.3(MYBPC3):c.271G>A (p.Asp91Asn)	MYBPC3 (D91N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 662323	NM_000256.3(MYBPC3):c.3277G>A (p.Gly1093Ser)	MYBPC3 (G1093S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +2 more	GUncertain significance
Select item 657978	NM_000256.3(MYBPC3):c.1499A>C (p.Lys500Thr)	MYBPC3 (K500T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +2 more	GUncertain significance
Select item 635764	arr[hg19]11p11.2(47339995x2,47343435_47375684x1,47387184x2)	MADD, MYBPC3	Copy number loss	Left ventricular noncompaction 10	GPathogenic
Select item 635763	NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg)	MYBPC3 (S858R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy	GLikely pathogenic
Select item 632160	NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser)	MYBPC3 (A693S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 629736	NM_000256.3(MYBPC3):c.11C>T (p.Pro4Leu)	MYBPC3 (P4L)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 629412	NM_000256.3(MYBPC3):c.684T>G (p.Asp228Glu)	MYBPC3 (D228E)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 618225	NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu)	MYBPC3 (I415L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 575705	NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)	MYBPC3 (R726C)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 574286	NM_000256.3(MYBPC3):c.3109C>T (p.Arg1037Cys)	MYBPC3 (R1037C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 568049	NM_000256.3(MYBPC3):c.1386C>A (p.Asp462Glu)	MYBPC3 (D462E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +3 more	GUncertain significance
Select item 525001	NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln)	MYBPC3 (R281Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 520450	NM_000256.3(MYBPC3):c.3326C>A (p.Thr1109Asn)	MYBPC3 (T1109N)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +4 more	GUncertain significance
Select item 520379	NM_000256.3(MYBPC3):c.3229G>T (p.Ala1077Ser)	MYBPC3 (A1077S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 520333	NM_000256.3(MYBPC3):c.3170C>T (p.Thr1057Met)	MYBPC3 (T1057M)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 518630	NM_000256.3(MYBPC3):c.2602G>A (p.Gly868Ser)	MYBPC3 (G868S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +5 more	GUncertain significance
Select item 518498	NM_000256.3(MYBPC3):c.1357C>G (p.Pro453Ala)	MYBPC3 (P453A)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +3 more	GUncertain significance
Select item 518241	NM_000256.3(MYBPC3):c.2927C>G (p.Pro976Arg)	MYBPC3 (P976R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +3 more	GUncertain significance
Select item 511430	NM_000256.3(MYBPC3):c.1563C>T (p.Asp521=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 510511	NM_000256.3(MYBPC3):c.2613C>T (p.Ser871=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 4 +4 more	GConflicting classifications of pathogenicity
Select item 488796	NM_000256.3(MYBPC3):c.2526C>G (p.Tyr842Ter)	MYBPC3 (Y842*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 487636	NM_000256.3(MYBPC3):c.1219G>C (p.Gly407Arg)	MYBPC3 (G407R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +2 more	GUncertain significance
Select item 454333	NM_000256.3(MYBPC3):c.598A>G (p.Ser200Gly)	MYBPC3 (S200G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GConflicting classifications of pathogenicity
Select item 454326	NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys)	MYBPC3 (R1120C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 454320	NM_000256.3(MYBPC3):c.2765G>A (p.Gly922Glu)	MYBPC3 (G922E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance

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