ClinVar for PubMed (Select 18403758) - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2942386	NM_001276345.2(TNNT2):c.304C>G (p.Arg102Gly)	TNNT2 (R92G +3 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 2 +2 more	GLikely pathogenic
Select item 2763277	NM_000257.4(MYH7):c.2722C>A (p.Leu908Met)	MYH7 (L908M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 1508500	NM_005159.5(ACTC1):c.289C>T (p.Arg97Cys)	ACTC1, GJD2-DT (R97C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 1475570	NM_000256.3(MYBPC3):c.1504C>G (p.Arg502Gly)	MYBPC3 (R502G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
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 1067412	NC_000011.9:g.(?_47362544)_(47368616_?)del	MYBPC3	Deletion	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 920147	NM_000363.5(TNNI3):c.421C>G (p.Arg141Gly)	TNNI3 (R141G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 849092	NM_000257.4(MYH7):c.2709G>T (p.Glu903Asp)	MYH7 (E903D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 580400	NM_000258.3(MYL3):c.518T>C (p.Met173Thr)	MYL3 (M173T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 567905	NM_000257.4(MYH7):c.2556G>A (p.Met852Ile)	LOC126861898, MYH7 (M852I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +8 more	GConflicting classifications of pathogenicity
Select item 520283	NM_000256.3(MYBPC3):c.3330+1G>T	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 191579	NM_000257.4(MYH7):c.4240C>A (p.Leu1414Met)	MYH7 (L1414M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 181580	NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp)	TNNI3 (R141W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 181375	NM_000257.4(MYH7):c.2555T>A (p.Met852Lys)	LOC126861898, MYH7 (M852K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 181202	NM_000257.4(MYH7):c.2707G>A (p.Glu903Lys)	MYH7 (E903K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 177656	NM_000257.4(MYH7):c.2708A>G (p.Glu903Gly)	MYH7 (E903G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 177642	NM_000257.4(MYH7):c.2287G>A (p.Val763Met)	LOC126861898, MYH7 (V763M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 164268	NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu)	MYH7 (S1836L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 164114	NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)	MYBPC3 (R495W)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 164113	NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	MYBPC3 (R495Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GPathogenic/Likely pathogenic
Select item 164070	NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn)	MYBPC3 (S858N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 164050	NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile)	MYBPC3 (T1028I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 161327	NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys)	LOC126861898, MYH7 (R787C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 43627	NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)	TNNT2 (R102W +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +7 more	GPathogenic
Select item 43386	NM_000363.5(TNNI3):c.529AAG[1] (p.Lys178del)	TNNI3 (K178del)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 43381	NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)	TNNI3 (R141Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 43013	NM_000257.4(MYH7):c.438G>T (p.Lys146Asn)	MYH7 (K146N)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 42916	NM_000257.4(MYH7):c.2555T>C (p.Met852Thr)	LOC126861898, MYH7 (M852T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 42900	NM_000257.4(MYH7):c.2360G>A (p.Arg787His)	LOC126861898, MYH7 (R787H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely benign 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
Select item 42797	NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu)	MYBPC3 (G278E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign
Select item 42792	NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	MYBPC3 (E258K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 42756	NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr)	MYBPC3 (I154T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 42739	NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg)	MYBPC3 (G1248R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GUncertain significance
Select item 42735	NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	MYBPC3 (Q1233*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +8 more	GPathogenic/Likely pathogenic
Select item 42684	NM_000256.3(MYBPC3):c.3083C>G (p.Thr1028Ser)	MYBPC3 (T1028S)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 42676	NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp)	MYBPC3 (R1002W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 42652	NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)	MYBPC3 (V896M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 42574	NM_000256.3(MYBPC3):c.1811ACG[1] (p.Asp605del)	MYBPC3 (D605del)	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 42572	NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn)	MYBPC3 (D605N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 42541	NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)	MYBPC3 (R502Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 42540	NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)	MYBPC3 (R502W)	Single nucleotide variant (missense variant)	MYBPC3-Related Disorders +8 more	GPathogenic/Likely pathogenic
Select item 42537	NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)	MYBPC3 (R495G)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GPathogenic/Likely pathogenic
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 37039	NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)	MYBPC3 (R943*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic
Select item 36642	NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	LOC126861897, MHRT +1 more (R1712Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 31883	NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu)	TPM1 (S215L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 31781	NM_000258.3(MYL3):c.559+6C>T	MYL3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 31779	NM_000258.3(MYL3):c.517A>G (p.Met173Val)	MYL3 (M173V)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 18326	NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)	ACTC1, GJD2-DT (H90Y)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +4 more	GUncertain significance
Select item 14118	NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)	LOC126861897, MHRT +1 more (R1712W)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 14107	NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)	MYH7 (R719Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14097	NM_000257.4(MYH7):c.2722C>G (p.Leu908Val)	MYH7 (L908V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14092	NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	MYH7 (E924K)	Single nucleotide variant (missense variant)	MYH7-related skeletal myopathy +11 more	GPathogenic/Likely pathogenic
Select item 14087	NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)	MYH7 (R403Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 12456	NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)	TPM1 (D175N +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GPathogenic
Select item 12409	NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)	TNNT2 (R92Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 8621	NM_000256.3(MYBPC3):c.3330+2T>G	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +7 more	GPathogenic
Select item 6854	NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg)	PRKAG2 (H530R +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic

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Links from PubMed

Items: 59