"Baylor Genetics"[submitter] AND "MYBPC3"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 42717	NM_000256.3(MYBPC3):c.3491-2A>T	MYBPC3	Single nucleotide variant (splice acceptor variant)	Left ventricular noncompaction 10 +3 more	GPathogenic/Likely pathogenic
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 177701	NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)	MYBPC3 (C1124*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +5 more	GPathogenic
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 8621	NM_000256.3(MYBPC3):c.3330+2T>G	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy +6 more	GPathogenic
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 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 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 42650	NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)	MYBPC3 (W890*)	Single nucleotide variant (nonsense)	Cardiomyopathy +5 more	GPathogenic
Select item 164078	NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp)	MYBPC3 (R817W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +3 more	GConflicting classifications of pathogenicity
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 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 181121	NM_000256.3(MYBPC3):c.1664T>C (p.Met555Thr)	MYBPC3 (M555T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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
Select item 42541	NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)	MYBPC3 (R502Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +6 more	GPathogenic/Likely 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 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 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 164140	NM_000256.3(MYBPC3):c.833delG	MYBPC3	Deletion	Left ventricular noncompaction 10 +5 more	GPathogenic/Likely pathogenic
Select item 42784	NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)	MYBPC3 (V219L)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 181039	NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp)	MYBPC3 (E165D)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 181038	NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter)	MYBPC3 (Q162*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction 10 +3 more	GPathogenic
Select item 181105	NM_000256.3(MYBPC3):c.450del (p.Asp151fs)	MYBPC3 (D151fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 2582595	NM_000256.3(MYBPC3):c.226C>T (p.Gln76Ter)	MYBPC3 (Q76*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +2 more	GPathogenic

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Items: 27