"Molecular Genetics, Royal Melbourne Hospital"[submitter] AND "MYBPC3" - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 177832	NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln)	MYBPC3 (R970Q)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 918284	NM_000256.3(MYBPC3):c.2708G>A (p.Gly903Asp)	MYBPC3 (G903D)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +3 more	GUncertain significance
Select item 42620	NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His)	MYBPC3 (R810H)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 3068608	NM_000256.3(MYBPC3):c.2219G>C (p.Gly740Ala)	MYBPC3 (G740A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 42585	NM_000256.3(MYBPC3):c.1928-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy +7 more	GPathogenic
Select item 42513	NM_000256.3(MYBPC3):c.1227-13G>A	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 188544	NM_000256.3(MYBPC3):c.1224-52G>A	MYBPC3	Single nucleotide variant (intron variant)	Left ventricular noncompaction 10 +5 more	GPathogenic/Likely pathogenic
Select item 217839	NM_000256.3(MYBPC3):c.13G>T (p.Gly5Trp)	MYBPC3 (G5W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance