"Revvity Omics, Revvity"[submitter] AND "MYBPC3"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 42722	NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His)	MYBPC3 (R1190H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 161307	NM_000256.3(MYBPC3):c.3412C>T (p.Arg1138Cys)	MYBPC3 (R1138C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 42709	NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His)	MYBPC3 (R1121H)	Single nucleotide variant (missense variant)	not provided +6 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 8621	NM_000256.3(MYBPC3):c.3330+2T>G	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy +6 more	GPathogenic
Select item 217485	NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter)	MYBPC3 (Y1100*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 2689477	NM_000256.3(MYBPC3):c.3191-45_3191-42del	MYBPC3	Deletion (intron variant)	not provided	GUncertain significance
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 42679	NM_000256.3(MYBPC3):c.3049G>A (p.Glu1017Lys)	MYBPC3 (E1017K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 180986	NM_000256.3(MYBPC3):c.2893C>T (p.Gln965Ter)	MYBPC3 (Q965*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 177949	NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp)	MYBPC3 (R891W)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 519160	NM_000256.3(MYBPC3):c.2599A>G (p.Ile867Val)	MYBPC3 (I867V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 180971	NM_000256.3(MYBPC3):c.2479C>A (p.Gln827Lys)	MYBPC3 (Q827K)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 8617	NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)	MYBPC3 (R820Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +6 more	GPathogenic/Likely pathogenic
Select item 177814	NM_000256.3(MYBPC3):c.2149-1G>A	MYBPC3	Single nucleotide variant (splice acceptor variant)	Primary familial hypertrophic cardiomyopathy +4 more	GPathogenic
Select item 1990793	NM_000256.3(MYBPC3):c.2068-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy +2 more	GLikely pathogenic
Select item 1372204	NM_000256.3(MYBPC3):c.1821_1822del (p.Pro608fs)	MYBPC3 (P608fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2433863	NM_000256.3(MYBPC3):c.1679A>T (p.Asp560Val)	MYBPC3 (D560V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 164113	NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	MYBPC3 (R495Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +8 more	GPathogenic/Likely pathogenic
Select item 42537	NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)	MYBPC3 (R495G)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +6 more	GPathogenic/Likely pathogenic
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 42511	NM_000256.3(MYBPC3):c.1224-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 407317	NM_000256.3(MYBPC3):c.956A>C (p.Glu319Ala)	MYBPC3 (E319A)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
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 42791	NM_000256.3(MYBPC3):c.821+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Primary familial hypertrophic cardiomyopathy +9 more	GPathogenic
Select item 42790	NM_000256.3(MYBPC3):c.772+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiomyopathy +3 more	GPathogenic
Select item 42777	NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys)	MYBPC3 (R215C)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 42577	NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)	MYBPC3 (T62P)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 164159	NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)	MYBPC3 (S25N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 629691	NM_000256.3(MYBPC3):c.73A>T (p.Ser25Cys)	MYBPC3 (S25C)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance

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Items: 33