ClinVar for PubMed (Select 12707239) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2866523	NM_000256.3(MYBPC3):c.772G>C (p.Glu258Gln)	MYBPC3 (E258Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2169619	NM_000363.5(TNNI3):c.586G>C (p.Asp196His)	TNNI3 (D196H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
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 1787506	NM_000257.4(MYH7):c.2197G>A (p.Gly733Arg)	MYH7 (G733R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1783736	NM_000257.4(MYH7):c.1977G>C (p.Met659Ile)	MYH7 (M659I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1778439	NM_000256.3(MYBPC3):c.1055T>C (p.Leu352Pro)	MYBPC3 (L352P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1488649	NM_000257.4(MYH7):c.1063G>C (p.Ala355Pro)	MYH7 (A355P)	Single nucleotide variant (missense variant)	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 1437758	NM_000256.3(MYBPC3):c.3764C>G (p.Ala1255Gly)	MYBPC3 (A1255G)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GUncertain significance
Select item 1436483	NM_001276345.2(TNNT2):c.841A>T (p.Asn281Tyr)	TNNT2 (N265Y +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1406501	NM_001276345.2(TNNT2):c.842A>G (p.Asn281Ser)	TNNT2 (N265S +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 1406156	NM_000257.4(MYH7):c.2012G>C (p.Arg671Pro)	MYH7 (R671P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 1054170	NM_000257.4(MYH7):c.1977G>A (p.Met659Ile)	MYH7 (M659I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1052513	NM_000363.5(TNNI3):c.587A>G (p.Asp196Gly)	TNNI3 (D196G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1043232	NM_000256.3(MYBPC3):c.821+5G>C	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1039806	NC_000012.11:g.(?_111348861)_(111348999_?)del	MYL2	Deletion	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 930519	NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser)	MYH7 (R663S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GLikely pathogenic
Select item 920147	NM_000363.5(TNNI3):c.421C>G (p.Arg141Gly)	TNNI3 (R141G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 810754	NM_000256.3(MYBPC3):c.2413+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 689323	NM_000256.3(MYBPC3):c.2432A>G (p.Lys811Arg)	MYBPC3 (K811R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 619257	NM_000256.3(MYBPC3):c.2737+2_2737+3del	MYBPC3	Microsatellite (splice donor variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 577168	NM_001276345.2(TNNT2):c.886C>A (p.Arg296Ser)	TNNT2 (R293S +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +3 more	GConflicting classifications of pathogenicity
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 546467	NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp)	TNNI3 (R186W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 519050	NM_000257.4(MYH7):c.1435A>G (p.Asn479Asp)	MYH7 (N479D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 487487	NM_000257.3(MYH7):c.[1816G>A;2183C>T]	MYH7 (V606M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GPathogenic
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 454354	NM_000257.4(MYH7):c.2333A>T (p.Asp778Val)	LOC126861898, MYH7 (D778V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic
Select item 454350	NM_000257.4(MYH7):c.2147G>A (p.Gly716Glu)	MYH7 (G716E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 265252	NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu)	LOC126861898, MYH7 (D778E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 264128	NM_001276345.2(TNNT2):c.238T>C (p.Phe80Leu)	TNNT2 (F70L +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 222731	NM_000257.4(MYH7):c.5071G>A (p.Val1691Met)	LOC126861897, MHRT +1 more (V1691M)	Single nucleotide variant (non-coding transcript variant +1 more)	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 217495	NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile)	TNNT2 (N268I +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 188615	NM_000257.4(MYH7):c.2334C>A (p.Asp778Glu)	LOC126861898, MYH7 (D778E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GPathogenic
Select item 181636	NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter)	TNNT2 (W287* +5 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 2 +5 more	GPathogenic/Likely 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 181389	NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp)	MYH7 (R1382W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +5 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 181357	NM_000257.4(MYH7):c.2012G>A (p.Arg671His)	MYH7 (R671H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +2 more	GConflicting classifications of pathogenicity
Select item 181315	NM_000257.4(MYH7):c.610C>T (p.Arg204Cys)	MYH7 (R204C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
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 180925	NM_000256.3(MYBPC3):c.1227-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 179492	NM_000363.5(TNNI3):c.586G>T (p.Asp196Tyr)	TNNI3 (D196Y)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 178946	NM_000256.3(MYBPC3):c.821+1G>C	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 177869	NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)	MYH7 (R204L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 177699	NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)	MYBPC3 (K505del)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 177697	NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)	MYH7 (A1777T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance FDA Recognized database
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 177636	NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)	TNNT2 (W287* +5 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 177628	NM_000257.4(MYH7):c.2198G>A (p.Gly733Glu)	MYH7 (G733E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GConflicting classifications of pathogenicity
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 164375	NM_000257.4(MYH7):c.1283C>T (p.Ala428Val)	MYH7 (A428V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 164350	NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)	MYH7 (R671C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
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 164107	NM_000256.3(MYBPC3):c.1624+2T>C	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 164071	NM_000256.3(MYBPC3):c.2556del (p.Ile852fs)	MYBPC3 (I852fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 164023	NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)	MYBPC3 (A1255T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 43676	NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)	TNNT2 (R286C +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
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 43395	NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln)	TNNI3 (R186Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
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 43389	NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)	TNNI3 (R162Q)	Single nucleotide variant (missense variant)	TNNI3-related condition +9 more	GPathogenic/Likely pathogenic
Select item 43388	NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)	TNNI3 (A157V)	Single nucleotide variant (missense variant)	TNNI3-related condition +6 more	GPathogenic/Likely pathogenic
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)	Dilated cardiomyopathy 2A +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)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 42993	NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr)	MYH7 (A1379T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
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 42934	NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del)	MYH7 (E931del)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
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 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 42885	NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly)	MYH7 (R723G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic 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 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 42827	NM_000257.4(MYH7):c.115G>A (p.Val39Met)	MYH7 (V39M)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 42820	NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)	MYH7 (A355T)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 42813	NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)	MYBPC3 (R326Q)	Single nucleotide variant (missense variant)	not specified +9 more	GBenign/Likely benign
Select item 42806	NM_000256.3(MYBPC3):c.927-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	not provided +5 more	GPathogenic
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 42797	NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu)	MYBPC3 (G278E)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GBenign
Select item 42796	NM_000256.3(MYBPC3):c.821+5G>A	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4 +3 more	GConflicting classifications of pathogenicity
Select item 42792	NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	MYBPC3 (E258K)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 42791	NM_000256.3(MYBPC3):c.821+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	SUDDEN INFANT DEATH SYNDROME +9 more	GPathogenic
Select item 42723	NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr)	MYBPC3 (A1194T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 42663	NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)	MYBPC3	Deletion	not provided +6 more	GPathogenic/Likely pathogenic
Select item 42652	NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)	MYBPC3 (V896M)	Single nucleotide variant (missense variant)	MYBPC3-related condition +9 more	GBenign/Likely benign
Select item 42635	NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs)	MYBPC3 (R845fs)	Deletion (frameshift variant)	Cardiomyopathy +1 more	GPathogenic
Select item 42627	NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val)	MYBPC3 (A833V)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 42610	NM_000256.3(MYBPC3):c.2308+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiomyopathy +4 more	GPathogenic
Select item 42591	NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter)	MYBPC3 (W683*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy	GPathogenic
Select item 42585	NM_000256.3(MYBPC3):c.1928-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	not provided +7 more	GPathogenic
Select item 42568	NM_000256.3(MYBPC3):c.1800del (p.Lys600fs)	MYBPC3	Deletion	Cardiovascular phenotype +4 more	GPathogenic
Select item 42541	NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)	MYBPC3 (R502Q)	Single nucleotide variant (missense variant)	not provided +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 disorder +8 more	GPathogenic/Likely pathogenic
Select item 42522	NM_000256.3(MYBPC3):c.1310del (p.Val437fs)	MYBPC3 (V437fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GPathogenic
Select item 42514	NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer)	MYBPC3	Deletion	Cardiomyopathy +3 more	GPathogenic
Select item 42511	NM_000256.3(MYBPC3):c.1224-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic

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