C0007194[trait identifier] AND "Loeys Lab, Universiteit Antwerpen"[sub - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 229051	NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter)	NEXN (R392* +1 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 734	NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)	TMEM43 (S358L)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 201857	NM_007078.3(LDB3):c.91C>T (p.Arg31Trp)	LDB3 (R31W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 645954	NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del)	RBM20 (E918del)	Microsatellite (inframe_deletion)	Dilated cardiomyopathy 1DD +3 more	GUncertain significance
Select item 42619	NC_000011.10:g.47337730dup	MYBPC3 (W792fs)	Duplication	Cardiovascular phenotype +6 more	GPathogenic
Select item 42575	NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)	MYBPC3 (D610N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 254153	NM_000256.3(MYBPC3):c.1404delG	MYBPC3	Deletion	Hypertrophic cardiomyopathy +4 more	GPathogenic/Likely pathogenic
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 42792	NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	MYBPC3 (E258K)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 30185	NM_020297.4(ABCC9):c.4512+814C>T	ABCC9 (T1547I)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 14089	NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)	MYH7 (R453C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 1065187	NM_000364.2:c.411_412delinsTA	TNNT2	Indel	Hypertrophic cardiomyopathy	GUncertain significance