"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 181021	NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys)	MYBPC3 (Y1251C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 42686	NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln)	MYBPC3 (R1033Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 454316	NM_000256.3(MYBPC3):c.2512G>T (p.Glu838Ter)	MYBPC3 (E838*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +1 more	GConflicting classifications of pathogenicity
Select item 925971	NM_000256.3(MYBPC3):c.2470G>A (p.Asp824Asn)	MYBPC3 (D824N)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 8617	NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)	MYBPC3 (R820Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 195850	NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)	MYBPC3 (R820W)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 180968	NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu)	MYBPC3 (P794L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 3065665	NM_000256.3(MYBPC3):c.1908dup (p.Asp637Ter)	MYBPC3 (D637*)	Duplication (nonsense)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 164098	NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)	MYBPC3 (R597Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 164109	NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)	MYBPC3 (G531R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3064743	NM_000256.3(MYBPC3):c.1520G>T (p.Gly507Val)	MYBPC3 (G507V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4	GUncertain significance