C1861862[trait identifier] AND "Center of Genomic medicine, Geneva, Un - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375467	NM_000265.6(NCF1):c.*179G>A	LOC106029312, NCF1	Single nucleotide variant	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 181019	NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter)	MYBPC3 (C1244*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +2 more	GPathogenic/Likely pathogenic
Select item 42735	NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	MYBPC3 (Q1233*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 437416	NM_000256.3(MYBPC3):c.3559del (p.Leu1187fs)	MYBPC3 (L1187fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 2627556	NM_000256.3(MYBPC3):c.3460delinsCT (p.Thr1154fs)	MYBPC3 (T1154fs)	Indel (frameshift variant)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 8621	NM_000256.3(MYBPC3):c.3330+2T>G	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +6 more	GPathogenic
Select item 397542	NM_000256.3(MYBPC3):c.3324_3325del (p.Lys1108fs)	MYBPC3 (K1108fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GPathogenic
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 42663	NC_000011.10:g.47335082_47335083del	MYBPC3	Deletion	Hypertrophic cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 627591	NM_000256.3(MYBPC3):c.2766del (p.Gly922_Leu923insTer)	MYBPC3	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4 +1 more	GPathogenic
Select item 437425	NM_000256.3(MYBPC3):c.2149-2del	MYBPC3	Deletion (splice acceptor variant)	Hypertrophic cardiomyopathy +2 more	GPathogenic
Select item 42585	NM_000256.3(MYBPC3):c.1928-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Left ventricular noncompaction 10 +7 more	GPathogenic
Select item 42568	NM_000256.3(MYBPC3):c.1800delA	MYBPC3	Deletion	Hypertrophic cardiomyopathy +4 more	GPathogenic
Select item 8608	NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	MYBPC3 (E542Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GPathogenic
Select item 42541	NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)	MYBPC3 (R502Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 164113	NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	MYBPC3 (R495Q)	Single nucleotide variant (missense variant)	MYBPC3-related disorder +8 more	GPathogenic/Likely pathogenic
Select item 42792	NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	MYBPC3 (E258K)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GPathogenic/Likely pathogenic