"Clinical Genetics, Academic Medical Center"[submitter] AND "MYBPC3"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180415	NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His)	MYBPC3 (R1267H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 164021	NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)	MYBPC3	Deletion	Hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 42739	NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg)	MYBPC3 (G1248R)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GUncertain significance
Select item 810753	NM_000256.3(MYBPC3):c.3700G>A (p.Gly1234Arg)	MYBPC3 (G1234R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 42735	NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	MYBPC3 (Q1233*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1I +8 more	GPathogenic/Likely pathogenic
Select item 161306	NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)	MYBPC3 (R1228C)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 42730	NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=)	MYBPC3	Single nucleotide variant (synonymous variant)	MYBPC3-related disorder +4 more	GBenign/Likely benign
Select item 665254	NM_000256.3(MYBPC3):c.3470C>T (p.Pro1157Leu)	MYBPC3 (P1157L)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 181102	NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)	MYBPC3 (Y1136del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 42711	NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)	MYBPC3 (I1131T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +7 more	GConflicting classifications of pathogenicity
Select item 454326	NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys)	MYBPC3 (R1120C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 42706	NM_000256.3(MYBPC3):c.3330+5G>C	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 164042	NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)	MYBPC3	Deletion	Hypertrophic cardiomyopathy +5 more	GPathogenic
Select item 42700	NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign
Select item 138319	NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 42695	NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr)	MYBPC3 (A1077T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 155808	NM_000256.3(MYBPC3):c.3190+5G>A	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy +12 more	GPathogenic/Likely pathogenic
Select item 42690	NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)	MYBPC3 (Q1061*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +5 more	GPathogenic
Select item 684798	NM_000256.3(MYBPC3):c.3142C>A (p.Arg1048Ser)	MYBPC3 (R1048S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 42688	NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys)	MYBPC3 (R1036C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +7 more	GBenign/Likely benign
Select item 188575	NM_000256.3(MYBPC3):c.3103G>A (p.Ala1035Thr)	MYBPC3 (A1035T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 1284594	NM_000256.3(MYBPC3):c.3017C>A (p.Thr1006Asn)	MYBPC3 (T1006N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 42676	NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp)	MYBPC3 (R1002W)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 36610	NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)	MYBPC3 (Q998E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 1050896	NM_000256.3(MYBPC3):c.2962G>A (p.Gly988Arg)	MYBPC3 (G988R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 518241	NM_000256.3(MYBPC3):c.2927C>G (p.Pro976Arg)	MYBPC3 (P976R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 36609	NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp)	MYBPC3 (R972W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 177832	NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln)	MYBPC3 (R970Q)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 164058	NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 42663	NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)	MYBPC3	Deletion	not provided +6 more	GPathogenic/Likely pathogenic
Select item 1284524	NM_000256.3(MYBPC3):c.2864C>A (p.Pro955His)	MYBPC3 (P955H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1284776	NM_000256.3(MYBPC3):c.2842_2843del (p.Asn948fs)	MYBPC3 (N948fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
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 403204	NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp)	MYBPC3 (R939W)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 427958	NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)	MYBPC3 (S928L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +7 more	GUncertain significance
Select item 42653	NM_000256.3(MYBPC3):c.2737+12C>T	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4 +4 more	GBenign
Select item 619256	NM_000256.3(MYBPC3):c.2737+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy	GPathogenic/Likely pathogenic
Select item 42652	NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)	MYBPC3 (V896M)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
Select item 42651	NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His)	MYBPC3 (R895H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 42645	NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=)	MYBPC3	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 42638	NM_000256.3(MYBPC3):c.2547C>T (p.Val849=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GBenign
Select item 42626	NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)	MYBPC3 (A833T)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 42619	NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)	MYBPC3 (W792fs)	Duplication	Primary familial hypertrophic cardiomyopathy +6 more	GPathogenic
Select item 384910	NM_000256.3(MYBPC3):c.2346C>T (p.Asn782=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 188566	NM_000256.3(MYBPC3):c.2308+18C>G	MYBPC3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 180082	NM_000256.3(MYBPC3):c.2308+12C>T	MYBPC3	Single nucleotide variant (intron variant)	not specified +2 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 36604	NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)	MYBPC3 (D770N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 843772	NM_000256.3(MYBPC3):c.2275G>A (p.Glu759Lys)	MYBPC3 (E759K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 42606	NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=)	MYBPC3	Single nucleotide variant (synonymous variant)	MYBPC3-related disorder +4 more	GLikely benign
Select item 437425	NM_000256.3(MYBPC3):c.2149-2del	MYBPC3	Deletion (splice acceptor variant)	Primary familial hypertrophic cardiomyopathy +2 more	GPathogenic
Select item 42599	NM_000256.3(MYBPC3):c.2149-5C>T	MYBPC3	Single nucleotide variant (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 1284268	NM_000256.3(MYBPC3):c.2149-9C>A	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 918995	NM_000256.3(MYBPC3):c.2112C>T (p.Asp704=)	MYBPC3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 629625	NM_000256.3(MYBPC3):c.2013C>T (p.Val671=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1025607	NM_000256.3(MYBPC3):c.1915G>A (p.Val639Ile)	MYBPC3 (V639I)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 180955	NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)	MYBPC3 (E611K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GConflicting classifications of pathogenicity
Select item 525077	NM_000256.3(MYBPC3):c.1827C>G (p.Ala609=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 42572	NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn)	MYBPC3 (D605N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GConflicting classifications of pathogenicity
Select item 42571	NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)	MYBPC3	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 42567	NM_000256.3(MYBPC3):c.1790+7G>A	MYBPC3	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 179549	NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp)	MYBPC3 (R597W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 42563	NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His)	MYBPC3 (R589H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1284521	NM_000256.3(MYBPC3):c.1624+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy	GPathogenic
Select item 42549	NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 164108	NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +5 more	GLikely benign
Select item 1299823	NM_000256.3(MYBPC3):c.1586C>A (p.Thr529Asn)	MYBPC3 (T529N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 42546	NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 42545	NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr)	MYBPC3 (A522T)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 177699	NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)	MYBPC3 (K505del)	Microsatellite (inframe_deletion)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 42540	NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)	MYBPC3 (R502W)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 164113	NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	MYBPC3 (R495Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GPathogenic/Likely pathogenic
Select item 164114	NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)	MYBPC3 (R495W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GPathogenic/Likely pathogenic
Select item 522220	NM_000256.3(MYBPC3):c.1458-1G>C	MYBPC3	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy +1 more	GPathogenic
Select item 42533	NM_000256.3(MYBPC3):c.1458-6G>A	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 188549	NM_000256.3(MYBPC3):c.1458-17C>T	MYBPC3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 180931	NM_000256.3(MYBPC3):c.1372C>T (p.Arg458Cys)	MYBPC3 (R458C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 164119	NM_000256.3(MYBPC3):c.1351+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 36601	NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)	MYBPC3 (E441K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 1 +7 more	GConflicting classifications of pathogenicity
Select item 414439	NM_000256.3(MYBPC3):c.1311G>C (p.Val437=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 42515	NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser)	MYBPC3 (G416S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 138326	NM_000256.3(MYBPC3):c.1224-19G>A	MYBPC3	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 693982	NM_000256.3(MYBPC3):c.1224-80G>A	MYBPC3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
Select item 42506	NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp)	MYBPC3 (R382W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GBenign/Likely benign
Select item 42502	NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser)	MYBPC3 (G347S)	Single nucleotide variant (missense variant)	MYBPC3-related disorder +3 more	GUncertain significance
Select item 177850	NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter)	MYBPC3 (E334*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
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 161310	NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)	MYBPC3 (V321M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 36615	NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter)	MYBPC3 (S311*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic
Select item 42806	NM_000256.3(MYBPC3):c.927-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy +5 more	GPathogenic
Select item 42804	NM_000256.3(MYBPC3):c.926+8C>T	MYBPC3	Single nucleotide variant (intron variant)	Left ventricular noncompaction 10 +5 more	GConflicting classifications of pathogenicity
Select item 42800	NM_000256.3(MYBPC3):c.906-7G>T	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 181112	NM_000256.3(MYBPC3):c.884del (p.Phe295fs)	MYBPC3 (F295fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4 +4 more	GPathogenic/Likely pathogenic
Select item 522302	NM_000256.3(MYBPC3):c.852-20C>A	MYBPC3	Single nucleotide variant	Hypertrophic cardiomyopathy +1 more	GBenign/Likely benign
Select item 1222036	NM_000256.3(MYBPC3):c.851+11C>T	MYBPC3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 525001	NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln)	MYBPC3 (R281Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GConflicting classifications of pathogenicity
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)	not provided +5 more	GBenign
Select item 937491	NM_000256.3(MYBPC3):c.823A>T (p.Ser275Cys)	MYBPC3 (S275C)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
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

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