"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1290614	NM_000256.3(MYBPC3):c.3815-66C>T	MYBPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 180415	NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His)	MYBPC3 (R1267H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 164021	NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)	MYBPC3	Deletion	Left ventricular noncompaction +5 more	GPathogenic/Likely pathogenic
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)	Cardiovascular phenotype +8 more	GPathogenic/Likely pathogenic
Select item 164032	NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp)	MYBPC3 (R1205W)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +6 more	GUncertain significance
Select item 454329	NM_000256.3(MYBPC3):c.3573G>A (p.Ser1191=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GBenign/Likely benign
Select item 181008	NM_000256.3(MYBPC3):c.3490+1G>T	MYBPC3	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 181102	NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)	MYBPC3 (Y1136del)	Microsatellite (inframe_deletion)	not provided +7 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 +7 more	GConflicting classifications of pathogenicity
Select item 42700	NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign
Select item 1285121	NM_000256.3(MYBPC3):c.3257_3258dup (p.Lys1087fs)	MYBPC3 (K1087fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 42695	NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr)	MYBPC3 (A1077T)	Single nucleotide variant (missense variant)	MYBPC3-related condition +4 more	GConflicting classifications of pathogenicity
Select item 188578	NM_000256.3(MYBPC3):c.3191-21A>G	MYBPC3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 42676	NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp)	MYBPC3 (R1002W)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 1050896	NM_000256.3(MYBPC3):c.2962G>A (p.Gly988Arg)	MYBPC3 (G988R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 36609	NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp)	MYBPC3 (R972W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +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 provided +5 more	GUncertain significance
Select item 1175022	NM_000256.3(MYBPC3):c.2905+35A>G	MYBPC3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 42669	NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)	MYBPC3 (Q969*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 42663	NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)	MYBPC3	Deletion	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
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 427958	NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)	MYBPC3 (S928L)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 177660	NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs)	MYBPC3 (T927fs)	Microsatellite (frameshift variant)	Cardiomyopathy +3 more	GPathogenic
Select item 180983	NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu)	MYBPC3 (Q921E)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 1299840	NM_000256.3(MYBPC3):c.2749del (p.Val917fs)	MYBPC3 (V917fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1250155	NM_000256.3(MYBPC3):c.2738-110T>A	MYBPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297730	NM_000256.3(MYBPC3):c.2737+16C>G	MYBPC3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
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 177884	NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln)	MYBPC3 (R891Q)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 42645	NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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 180975	NM_000256.3(MYBPC3):c.2543C>G (p.Ala848Gly)	MYBPC3 (A848G)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 454314	NM_000256.3(MYBPC3):c.2500C>T (p.Arg834Trp)	MYBPC3 (R834W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 42626	NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)	MYBPC3 (A833T)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 195850	NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)	MYBPC3 (R820W)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 42619	NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)	MYBPC3 (W792fs)	Duplication	Cardiovascular phenotype +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 42610	NM_000256.3(MYBPC3):c.2308+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 36604	NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)	MYBPC3 (D770N)	Single nucleotide variant (missense variant)	not provided +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)	Cardiomyopathy +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 1297572	NM_000256.3(MYBPC3):c.2148+21G>A	MYBPC3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 918995	NM_000256.3(MYBPC3):c.2112C>T (p.Asp704=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 1241464	NM_000256.3(MYBPC3):c.2067+118A>G	MYBPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138318	NM_000256.3(MYBPC3):c.1989T>A (p.Ala663=)	MYBPC3	Single nucleotide variant (synonymous variant)	MYBPC3-related condition +4 more	GBenign/Likely benign
Select item 1222377	NM_000256.3(MYBPC3):c.1927+89C>G	MYBPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 188559	NM_000256.3(MYBPC3):c.1897+47G>A	MYBPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 180955	NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)	MYBPC3 (E611K)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 668670	NM_000256.3(MYBPC3):c.1830C>T (p.Asp610=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GLikely benign
Select item 42575	NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)	MYBPC3 (D610N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 42568	NM_000256.3(MYBPC3):c.1800del (p.Lys600fs)	MYBPC3	Deletion	Cardiovascular phenotype +4 more	GPathogenic
Select item 164098	NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)	MYBPC3 (R597Q)	Single nucleotide variant (missense variant)	MYBPC3-related cardiomyopathies +5 more	GPathogenic/Likely pathogenic
Select item 138317	NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=)	MYBPC3	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 181124	NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg)	MYBPC3 (C566R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 656085	NM_000256.3(MYBPC3):c.1685C>T (p.Ala562Val)	MYBPC3 (A562V)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 8608	NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	MYBPC3 (E542Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GPathogenic
Select item 42549	NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 4 +6 more	GConflicting classifications of pathogenicity
Select item 164109	NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)	MYBPC3 (G531R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 42546	NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=)	MYBPC3	Single nucleotide variant (synonymous variant)	not provided +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)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 42540	NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)	MYBPC3 (R502W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +8 more	GPathogenic/Likely pathogenic
Select item 42539	NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=)	MYBPC3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 164113	NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	MYBPC3 (R495Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +8 more	GPathogenic/Likely pathogenic
Select item 164114	NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)	MYBPC3 (R495W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 36601	NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)	MYBPC3 (E441K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 42511	NM_000256.3(MYBPC3):c.1224-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
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 188543	NM_000256.3(MYBPC3):c.1223+29G>A	MYBPC3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 42506	NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp)	MYBPC3 (R382W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 919205	NM_000256.3(MYBPC3):c.1091-8G>A	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GLikely benign
Select item 188541	NM_000256.3(MYBPC3):c.1091-24C>T	MYBPC3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 255623	NM_000256.3(MYBPC3):c.1091-31G>A	MYBPC3	Single nucleotide variant	not specified +1 more	GBenign
Select item 1196602	NM_000256.3(MYBPC3):c.1091-34G>A	MYBPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 42498	NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
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)	Primary dilated cardiomyopathy +9 more	GBenign/Likely benign
Select item 161310	NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)	MYBPC3 (V321M)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 42806	NM_000256.3(MYBPC3):c.927-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +5 more	GPathogenic
Select item 188539	NM_000256.3(MYBPC3):c.926+25C>A	MYBPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 42801	NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)	MYBPC3	Deletion	MYBPC3-related condition +7 more	GPathogenic/Likely pathogenic
Select item 42800	NM_000256.3(MYBPC3):c.906-7G>T	MYBPC3	Single nucleotide variant (intron variant)	MYBPC3-related condition +5 more	GConflicting classifications of pathogenicity
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)	Cardiomyopathy +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)	Cardiovascular phenotype +3 more	GUncertain significance

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