C1861862[trait identifier] AND "Center for Medical Genetics Ghent, Uni - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 37039	NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)	MYBPC3 (R943*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic
Select item 42619	NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)	MYBPC3 (W792fs)	Duplication	Cardiovascular phenotype +6 more	GPathogenic
Select item 36604	NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)	MYBPC3 (D770N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 42585	NM_000256.3(MYBPC3):c.1928-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	MYBPC3-Related Disorders +7 more	GPathogenic
Select item 254153	NM_000256.3(MYBPC3):c.1404del (p.Gln469fs)	MYBPC3	Deletion	Isolated Noncompaction of the Ventricular Myocardium +3 more	GPathogenic/Likely pathogenic
Select item 254155	NM_000256.3(MYBPC3):c.927_928delGG	MYBPC3	Deletion (splice acceptor variant)	Hypertrophic cardiomyopathy +1 more	GLikely pathogenic
Select item 42796	NM_000256.3(MYBPC3):c.821+5G>A	MYBPC3	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 188532	NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs)	MYBPC3	Duplication	Hypertrophic cardiomyopathy 4 +1 more	GPathogenic
Select item 254154	NM_000256.3(MYBPC3):c.332_335dup (p.Glu112delinsAspTer)	MYBPC3	Duplication (nonsense)	Hypertrophic cardiomyopathy 4	GPathogenic

ClinVar