ClinVar for PubMed (Select 32815737) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2780212	NM_000256.3(MYBPC3):c.329del (p.Pro110fs)	MYBPC3 (P110fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GPathogenic
Select item 2780211	NM_000256.3(MYBPC3):c.3215T>G (p.Leu1072Arg)	MYBPC3 (L1072R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2098205	NM_003280.3(TNNC1):c.65C>A (p.Ala22Glu)	TNNC1 (A22E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 1329386	NM_000256.3(MYBPC3):c.2336A>G (p.Lys779Arg)	MYBPC3 (K779R)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 925428	NM_000256.3(MYBPC3):c.2915G>A (p.Arg972Gln)	MYBPC3 (R972Q)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 636766	NM_000256.3(MYBPC3):c.3673G>A (p.Ala1225Thr)	MYBPC3 (A1225T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 573991	NM_001159699.2(FHL1):c.784C>T (p.His262Tyr)	FHL1 (H246Y +2 more)	Single nucleotide variant (synonymous variant +2 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 570973	NM_000257.4(MYH7):c.985C>T (p.Leu329Phe)	MYH7 (L329F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 407169	NM_000257.4(MYH7):c.3743T>A (p.Met1248Lys)	MYH7 (M1248K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 228936	NM_000258.3(MYL3):c.92G>A (p.Arg31His)	MYL3 (R31H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 228429	NM_005159.5(ACTC1):c.217A>G (p.Ile73Val)	ACTC1, GJD2-DT (I73V)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 217836	NM_000256.3(MYBPC3):c.3712_3713del (p.Leu1238fs)	MYBPC3 (L1238fs)	Microsatellite (frameshift variant)	Hypertrophic cardiomyopathy 1 +1 more	GPathogenic
Select item 181567	NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp)	TNNC1 (N144D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 181096	NM_000256.3(MYBPC3):c.3217dup (p.Arg1073fs)	MYBPC3	Duplication	Hypertrophic cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 43677	NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)	TNNT2 (R286H +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 43374	NM_000363.5(TNNI3):c.307C>T (p.Arg103Cys)	TNNI3 (R103C)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 43101	NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)	MYH7 (R243C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +9 more	GConflicting classifications of pathogenicity
Select item 43009	NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn)	MHRT, MYH7 (D1450N)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 42503	NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln)	MYBPC3 (R35Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 12411	NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	TNNT2 (R278C +5 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity

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Items: 20