"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 932074	NM_000256.3(MYBPC3):c.3785C>T (p.Ala1262Val)	MYBPC3 (A1262V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4	GUncertain significance
Select item 42712	NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)	MYBPC3 (R1138P)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 42692	NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter)	MYBPC3 (W1078*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +4 more	GPathogenic
Select item 155808	NM_000256.3(MYBPC3):c.3190+5G>A	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy +12 more	GPathogenic/Likely pathogenic
Select item 518771	NM_000256.3(MYBPC3):c.3142C>T (p.Arg1048Cys)	MYBPC3 (R1048C)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 403204	NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp)	MYBPC3 (R939W)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 177700	NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)	MYBPC3 (K814del)	Microsatellite (inframe_deletion)	Cardiomyopathy +5 more	GUncertain significance
Select item 42619	NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)	MYBPC3 (W792fs)	Duplication	Primary familial hypertrophic cardiomyopathy +6 more	GPathogenic
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 164113	NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	MYBPC3 (R495Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GPathogenic/Likely pathogenic
Select item 931252	NM_000256.3(MYBPC3):c.1010C>T (p.Ala337Val)	MYBPC3 (A337V)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 42801	NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)	MYBPC3	Deletion	Cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 454334	NM_000256.3(MYBPC3):c.817C>T (p.Arg273Cys)	MYBPC3 (R273C)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 42792	NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	MYBPC3 (E258K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GPathogenic/Likely pathogenic
Select item 42644	NM_000256.3(MYBPC3):c.26-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic