"Genetics and Genomics Program, Sidra Medicine"[submitter] AND "MYBPC3 - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 42719	NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)	MYBPC3 (E1179K)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 694554	NM_000256.3(MYBPC3):c.3058A>G (p.Ser1020Gly)	MYBPC3 (S1020G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 694564	NM_000256.3(MYBPC3):c.3009_3010del (p.Gln1004fs)	MYBPC3 (Q1004fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GPathogenic/Likely pathogenic
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 488796	NM_000256.3(MYBPC3):c.2526C>G (p.Tyr842Ter)	MYBPC3 (Y842*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 802674	NM_000256.3(MYBPC3):c.2504G>T (p.Arg835Leu)	MYBPC3 (R835L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +1 more	GUncertain significance
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 161303	NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys)	MYBPC3 (E619K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +6 more	GConflicting classifications of pathogenicity
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 42794	NM_000256.3(MYBPC3):c.814C>T (p.Arg272Cys)	MYBPC3 (R272C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 694565	NM_000256.3(MYBPC3):c.654G>A (p.Lys218=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GUncertain significance
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 689322	NM_000256.3(MYBPC3):c.51dup (p.Ser18fs)	MYBPC3 (S18fs)	Duplication (frameshift variant)	Left ventricular noncompaction 10 +1 more	GLikely pathogenic