"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "MYBPC3"[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8603	NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)	MYBPC3	Duplication (inframe_insertion)	not provided +6 more	GPathogenic
Select item 181021	NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys)	MYBPC3 (Y1251C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 42713	NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile)	MYBPC3 (V1139I)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +8 more	GUncertain significance
Select item 42706	NM_000256.3(MYBPC3):c.3330+5G>C	MYBPC3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 922548	NM_000256.3(MYBPC3):c.3299A>T (p.Tyr1100Phe)	MYBPC3 (Y1100F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 8616	NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)	MYBPC3 (E1096*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +5 more	GPathogenic/Likely pathogenic
Select item 180995	NM_000256.3(MYBPC3):c.2995-1G>A	MYBPC3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1000925	NM_000256.3(MYBPC3):c.2968C>G (p.Pro990Ala)	MYBPC3 (P990A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 164060	NM_000256.3(MYBPC3):c.2833C>T (p.Arg945Trp)	MYBPC3 (R945W)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 92690	NC_000011.10:g.47335872C>T	MYBPC3	Single nucleotide variant	not provided +3 more	GPathogenic/Likely pathogenic
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 177884	NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln)	MYBPC3 (R891Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GUncertain significance
Select item 42650	NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)	MYBPC3 (W890*)	Single nucleotide variant (nonsense)	Cardiomyopathy +5 more	GPathogenic
Select item 217837	NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val)	MYBPC3 (A851V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GUncertain significance
Select item 220872	NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu)	MYBPC3 (A848E)	Single nucleotide variant (missense variant)	not provided +1 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 195850	NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)	MYBPC3 (R820W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GPathogenic/Likely pathogenic
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 927050	NM_000256.3(MYBPC3):c.2327C>T (p.Ala776Val)	MYBPC3 (A776V)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
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 1343363	NM_000256.3(MYBPC3):c.2250_2251insTAG (p.Val751Ter)	MYBPC3 (V751*)	Insertion (nonsense)	not provided	GPathogenic
Select item 42608	NM_000256.3(MYBPC3):c.2210C>T (p.Thr737Met)	MYBPC3 (T737M)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 42596	NM_000256.3(MYBPC3):c.2096delC	MYBPC3	Deletion	Cardiovascular phenotype +5 more	GPathogenic
Select item 576612	NM_000256.3(MYBPC3):c.2056G>C (p.Ala686Pro)	MYBPC3 (A686P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1163047	NM_000256.3(MYBPC3):c.1927+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1163048	NM_000256.3(MYBPC3):c.1791-1G>A	MYBPC3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 665200	NM_000256.3(MYBPC3):c.1773G>T (p.Lys591Asn)	MYBPC3 (K591N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 919864	NM_000256.3(MYBPC3):c.1721G>T (p.Arg574Leu)	MYBPC3 (R574L)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
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 164107	NM_000256.3(MYBPC3):c.1624+2T>C	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 4 +3 more	GPathogenic
Select item 8608	NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	MYBPC3 (E542Q)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 164109	NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)	MYBPC3 (G531R)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 42550	NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)	MYBPC3 (G531R)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 180942	NM_000256.3(MYBPC3):c.1546G>A (p.Glu516Lys)	MYBPC3 (E516K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 177699	NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)	MYBPC3 (K505del)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy +5 more	GLikely pathogenic
Select item 42540	NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)	MYBPC3 (R502W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 164118	NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs)	MYBPC3 (P453fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic
Select item 36601	NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)	MYBPC3 (E441K)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 42514	NM_000256.3(MYBPC3):c.1235_1236delTT	MYBPC3	Deletion	Cardiovascular phenotype +3 more	GPathogenic
Select item 164126	NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val)	MYBPC3 (M405V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 181141	NM_000256.3(MYBPC3):c.1188G>A (p.Trp396Ter)	MYBPC3 (W396*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +2 more	GPathogenic
Select item 181058	NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly)	MYBPC3 (S362G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +3 more	GConflicting classifications of pathogenicity
Select item 1163049	NM_000256.3(MYBPC3):c.1006A>G (p.Ile336Val)	MYBPC3 (I336V)	Single nucleotide variant (missense variant)	not provided	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 42806	NM_000256.3(MYBPC3):c.927-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Primary familial hypertrophic cardiomyopathy +5 more	GPathogenic
Select item 181054	NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter)	MYBPC3 (K301*)	Single nucleotide variant (nonsense)	Cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 42798	NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala)	MYBPC3 (G279A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 380700	NM_000256.3(MYBPC3):c.799C>G (p.Leu267Val)	MYBPC3 (L267V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 42792	NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	MYBPC3 (E258K)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 177910	NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)	MYBPC3 (R238H)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 921746	NM_000256.3(MYBPC3):c.712C>T (p.Arg238Cys)	MYBPC3 (R238C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 161304	NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn)	MYBPC3 (D228N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 42775	NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)	MYBPC3 (Q208H)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 36613	NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)	MYBPC3 (R177C)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +6 more	GConflicting classifications of pathogenicity
Select item 181036	NM_000256.3(MYBPC3):c.467T>C (p.Leu156Pro)	MYBPC3 (L156P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 42752	NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)	MYBPC3 (G148R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 181034	NM_000256.3(MYBPC3):c.418G>C (p.Ala140Pro)	MYBPC3 (A140P)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 164160	NM_000256.3(MYBPC3):c.50G>A (p.Arg17Gln)	MYBPC3 (R17Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
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 1120154	Single allele	MYBPC3	Deletion	not provided	GPathogenic

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Items: 64