C0007194[trait identifier] AND "Center of Genomic medicine, Geneva, Un - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12414	NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)	TNNT2 (R141W +3 more)	Single nucleotide variant (missense variant)	Familial isolated dilated cardiomyopathy +7 more	GPathogenic
Select item 201883	NM_032578.4(MYPN):c.1105G>A (p.Asp369Asn)	MYPN (D369N +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 536711	NM_014000.3(VCL):c.853C>T (p.Arg285Cys)	VCL (R285C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +3 more	GUncertain significance
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 8621	NM_000256.3(MYBPC3):c.3330+2T>G	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +6 more	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 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
Select item 132976	NM_000432.4(MYL2):c.484G>A (p.Gly162Arg)	MYL2 (G162R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 40513	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	PTPN11 (E139D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 42913	NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)	LOC126861898, MYH7 (K847del)	Deletion (inframe_deletion)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 42875	NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	MYH7 (R663H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database