ClinVar for PubMed (Select 20800588) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2137557	NM_000257.4(MYH7):c.3652G>C (p.Glu1218Gln)	MYH7 (E1218Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1785309	NM_000256.3(MYBPC3):c.2067G>T (p.Gln689His)	MYBPC3 (Q689H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1700491	NM_000256.3(MYBPC3):c.3234G>A (p.Trp1078Ter)	MYBPC3 (W1078*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1171724	NM_000257.4(MYH7):c.3788C>A (p.Ala1263Glu)	MYH7 (A1263E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 854576	NM_000257.4(MYH7):c.655C>G (p.Gln219Glu)	MYH7 (Q219E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 802674	NM_000256.3(MYBPC3):c.2504G>T (p.Arg835Leu)	MYBPC3 (R835L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +1 more	GUncertain significance
Select item 641688	NM_000256.3(MYBPC3):c.2504_2505delinsTT (p.Arg835Leu)	MYBPC3 (R835L)	Indel (missense variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 525118	NM_000257.4(MYH7):c.3789G>T (p.Ala1263=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +6 more	GConflicting classifications of pathogenicity
Select item 525001	NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln)	MYBPC3 (R281Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 520333	NM_000256.3(MYBPC3):c.3170C>T (p.Thr1057Met)	MYBPC3 (T1057M)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 487639	NM_000257.4(MYH7):c.5779A>T (p.Ile1927Phe)	MYH7 (I1927F)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 454357	NM_000257.4(MYH7):c.2555T>G (p.Met852Arg)	LOC126861898, MYH7 (M852R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 454301	NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr)	MYBPC3 (A364T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 264356	NM_000256.3(MYBPC3):c.1565C>T (p.Ala522Val)	MYBPC3 (A522V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 194465	NM_000257.4(MYH7):c.1755C>T (p.Ile585=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 191800	NM_001276345.2(TNNT2):c.752A>G (p.Tyr251Cys)	TNNT2 (Y241C +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 188596	NM_000257.4(MYH7):c.530C>T (p.Thr177Ile)	MYH7 (T177I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 181635	NM_001276345.2(TNNT2):c.451del (p.Arg151fs)	TNNT2 (R151fs +3 more)	Deletion (frameshift variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 181576	NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln)	TNNI3 (R136Q)	Single nucleotide variant (missense variant)	not provided +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 181335	NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu)	MYH7 (K351E)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 181266	NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr)	LOC126861897, MHRT +1 more (A1603T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +9 more	GUncertain significance
Select item 181180	NM_000257.4(MYH7):c.2302G>C (p.Gly768Arg)	LOC126861898, MYH7 (G768R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 181132	NM_000256.3(MYBPC3):c.237C>G (p.Tyr79Ter)	MYBPC3 (Y79*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +2 more	GPathogenic
Select item 181126	NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His)	MYBPC3 (R733H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 180940	NM_000256.3(MYBPC3):c.1471G>A (p.Val491Met)	MYBPC3 (V491M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 179536	NM_000363.5(TNNI3):c.575G>C (p.Arg192Pro)	TNNI3 (R192P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 177847	NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)	LOC126861898, MYH7 (A868P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 177700	NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)	MYBPC3 (K814del)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy 4 +6 more	GUncertain significance
Select item 177676	NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys)	MYH7 (E1116K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 177668	NM_000256.3(MYBPC3):c.1090+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy +3 more	GPathogenic
Select item 177623	NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser)	MYH7 (N479S)	Single nucleotide variant (missense variant)	MYH7-related disease +2 more	GPathogenic/Likely pathogenic
Select item 165510	NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)	TNNI3 (R192C)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 1 +6 more	GPathogenic/Likely pathogenic
Select item 164337	NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg)	LOC126861898, MYH7 (G768R)	Single nucleotide variant (missense variant)	Restrictive cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 164294	NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)	MYH7 (E1356K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 164147	NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu)	MYBPC3 (P186L)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 161321	NM_000257.4(MYH7):c.5536C>T (p.Arg1846Cys)	MYH7 (R1846C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 155814	NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)	MYH7 (R1053Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 155808	NM_000256.3(MYBPC3):c.3190+5G>A	MYBPC3	Single nucleotide variant (intron variant)	Noncompaction cardiomyopathy +12 more	GPathogenic/Likely pathogenic
Select item 43648	NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)	TNNT2 (E163del +3 more)	Microsatellite (inframe_deletion)	Dilated cardiomyopathy 1D +5 more	GPathogenic/Likely pathogenic
Select item 43003	NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	MYH7 (R1420W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 42992	NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)	MYH7 (T1377M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 42946	NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42941	NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)	MYH7 (M982T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42933	NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys)	MYH7 (E930K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GPathogenic
Select item 42896	NM_000257.4(MYH7):c.2349C>T (p.Arg783=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	not specified +9 more	GBenign/Likely benign
Select item 42890	NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg)	MYH7 (G741R)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GPathogenic/Likely pathogenic
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 42874	NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)	MYH7 (R663C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GPathogenic/Likely pathogenic
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 42801	NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)	MYBPC3	Deletion	MYBPC3-related condition +7 more	GPathogenic/Likely pathogenic
Select item 42798	NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala)	MYBPC3 (G279A)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
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 42780	NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly)	MYBPC3 (S217G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +7 more	GConflicting classifications of pathogenicity
Select item 42769	NM_000256.3(MYBPC3):c.540C>T (p.Gly180=)	MYBPC3	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 42757	NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)	MYBPC3	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 42694	NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs)	MYBPC3 (D1076fs)	Insertion (frameshift variant)	Cardiomyopathy +3 more	GPathogenic
Select item 42682	NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)	MYBPC3 (R1022P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 42665	NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu)	MYBPC3 (P961L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +4 more	GUncertain significance
Select item 42577	NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)	MYBPC3 (T62P)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 42576	NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)	MYBPC3 (D610H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +7 more	GConflicting classifications of pathogenicity
Select item 42550	NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)	MYBPC3 (G531R)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 36614	NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile)	MYBPC3 (V189I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
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 14098	NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)	MYH7 (G741R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
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 12424	NM_000363.5(TNNI3):c.575G>A (p.Arg192His)	TNNI3 (R192H)	Single nucleotide variant (missense variant)	Restrictive cardiomyopathy +6 more	GPathogenic
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
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

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Items: 69