ClinVar for PubMed (Select 20215591) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from PubMed

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2839372	NM_001018005.2(TPM1):c.43A>G (p.Lys15Glu)	TPM1 (K15E)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1503596	NM_003280.3(TNNC1):c.309G>A (p.Met103Ile)	TNNC1 (M103I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 1487618	NM_001018005.2(TPM1):c.68A>C (p.Glu23Ala)	TPM1 (E23A)	Single nucleotide variant (missense variant)	Familial cardiomyopathy +1 more	GUncertain significance
Select item 970413	NM_002471.4(MYH6):c.4318G>C (p.Ala1440Pro)	MYH6 (A1440P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 647390	NM_002471.4(MYH6):c.5695C>T (p.Arg1899Cys)	MYH6 (R1899C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 537941	NM_002471.4(MYH6):c.3529C>T (p.Arg1177Trp)	MYH6 (R1177W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 403557	NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly)	TNNI3 (D180G)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
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 181046	NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln)	MYBPC3 (K202Q)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 181025	NM_000256.3(MYBPC3):c.3779G>A (p.Gly1260Asp)	MYBPC3 (G1260D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 181008	NM_000256.3(MYBPC3):c.3490+1G>T	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 180554	NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp)	TNNT2 (R205W +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 180535	NM_003673.4(TCAP):c.421C>G (p.Pro141Ala)	TCAP (P141A)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 178072	NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys)	MYH6 (R568C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +3 more	GConflicting classifications of pathogenicity
Select item 177837	NM_000256.3(MYBPC3):c.3190+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 4 +5 more	GPathogenic
Select item 177753	NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)	MYH7 (R1045C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 161305	NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)	MYBPC3 (G5R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GConflicting classifications of pathogenicity
Select item 64613	NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe)	MYBPC3 (C1264F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 44682	NM_003280.3(TNNC1):c.442A>G (p.Ile148Val)	TNNC1 (I148V)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 44545	NM_002471.4(MYH6):c.824T>A (p.Ile275Asn)	MYH6 (I275N)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 44513	NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)	MYH6 (R1502Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +10 more	GConflicting classifications of pathogenicity
Select item 44485	NM_002471.4(MYH6):c.3437dup (p.Glu1147fs)	MYH6 (E1147fs)	Duplication (frameshift variant)	not specified +3 more	GUncertain significance
Select item 43667	NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)	TNNT2 (E244D +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +8 more	GConflicting classifications of pathogenicity
Select item 42948	NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)	MYH7 (R1045L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 42794	NM_000256.3(MYBPC3):c.814C>T (p.Arg272Cys)	MYBPC3 (R272C)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 42656	NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)	MYBPC3 (P910T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 42626	NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)	MYBPC3 (A833T)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 42573	NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly)	MYBPC3 (D605G)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 42536	NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)	MYBPC3 (G490R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 31896	NM_001018005.2(TPM1):c.830C>T (p.Ala277Val)	TPM1 (A277V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 31895	NM_001018005.2(TPM1):c.715G>A (p.Ala239Thr)	TPM1 (A239T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 31894	NM_001018005.2(TPM1):c.240+4470G>T	LOC130057222, TPM1 +1 more (S16I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	Gnot provided
Select item 31893	NM_001018005.2(TPM1):c.67G>C (p.Glu23Gln)	TPM1 (E23Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 31892	NM_001018005.2(TPM1):c.45G>T (p.Lys15Asn)	TPM1 (K15N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 31891	NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr)	TPM1 (I92T +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 14151	NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)	MYH6 (A1004S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +8 more	GConflicting classifications of pathogenicity
Select item 12445	NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu)	TNNC1 (D145E)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from PubMed

Items: 37