ClinVar for PMC (Select 3359199) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2735592	NM_000256.3(MYBPC3):c.2414-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 2574111	NM_000257.4(MYH7):c.427C>G (p.Arg143Gly)	MYH7 (R143G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 2089202	NM_000257.4(MYH7):c.2220_2221delinsTT (p.Lys740_Gly741delinsAsnTrp)	MYH7	Indel (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1519501	NM_000257.4(MYH7):c.2605CGC[1] (p.Arg870del)	LOC126861898, MYH7 (R870del)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1473426	NM_000363.5(TNNI3):c.422G>T (p.Arg141Leu)	TNNI3 (R141L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1171755	NM_001276345.2(TNNT2):c.408G>C (p.Arg136Ser)	TNNT2 (R121S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +4 more	GUncertain significance
Select item 1067175	NM_000257.4(MYH7):c.2630T>A (p.Met877Lys)	LOC126861898, MYH7 (M877K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 852988	NM_000257.4(MYH7):c.1956G>C (p.Arg652Ser)	MYH7 (R652S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 834192	NM_000257.4(MYH7):c.2762A>C (p.Glu921Ala)	MYH7 (E921A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 659235	NM_000257.4(MYH7):c.1751G>T (p.Gly584Val)	MYH7 (G584V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 636527	NM_000257.4(MYH7):c.2470G>A (p.Val824Ile)	LOC126861898, MYH7 (V824I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 407193	NM_000257.4(MYH7):c.2189T>C (p.Ile730Thr)	MYH7 (I730T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 237442	NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)	MYH7 (Q209K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 235031	NM_000257.4(MYH7):c.2609G>T (p.Arg870Leu)	LOC126861898, MYH7 (R870L)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GLikely pathogenic
Select item 181617	NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln)	TNNT2 (R141Q +3 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 181580	NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp)	TNNI3 (R141W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 7 +4 more	GConflicting classifications of pathogenicity
Select item 181339	NM_000257.4(MYH7):c.1231G>A (p.Val411Ile)	MYH7 (V411I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 181205	NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys)	MYH7 (E921K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +3 more	GLikely pathogenic
Select item 181013	NM_000256.3(MYBPC3):c.3584G>T (p.Gly1195Val)	MYBPC3 (G1195V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 177665	NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)	MYH7 (G741W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 177626	NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly)	MYH7 (R652G)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 161396	NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)	TNNI3 (R162W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 7 +7 more	GConflicting classifications of pathogenicity
Select item 161323	NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met)	LOC126861897, MYH7 (L1769M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43390	NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro)	TNNI3 (R162P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 43381	NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)	TNNI3 (R141Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 43106	NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)	MYH7 (I263T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 43095	NM_000257.4(MYH7):c.611G>A (p.Arg204His)	MYH7 (R204H)	Single nucleotide variant (missense variant)	Myopathy, myosin storage, autosomal recessive +8 more	GConflicting classifications of pathogenicity
Select item 43006	NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)	MYH7 (R143Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 42921	NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu)	LOC126861898, MYH7 (Q882E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +4 more	GConflicting classifications of pathogenicity
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 42838	NM_000257.4(MYH7):c.1358G>A (p.Arg453His)	MYH7 (R453H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 36636	NM_000257.4(MYH7):c.2585C>T (p.Ala862Val)	LOC126861898, MYH7 (A862V)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 36614	NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile)	MYBPC3 (V189I)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 14120	NM_000257.4(MYH7):c.2609G>A (p.Arg870His)	LOC126861898, MYH7 (R870H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14104	NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)	MYH7 (R719W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14101	NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu)	MYH7 (R403L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 14092	NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	MYH7 (E924K)	Single nucleotide variant (missense variant)	MYH7-related disorder +11 more	GPathogenic/Likely pathogenic
Select item 14090	NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)	MYH7 (G584R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database

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Items: 39