ClinVar for MedGen (Select 350526) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065665	NM_000256.3(MYBPC3):c.1908dup (p.Asp637Ter)	MYBPC3 (D637*)	Duplication (nonsense)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 3064743	NM_000256.3(MYBPC3):c.1520G>T (p.Gly507Val)	MYBPC3 (G507V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4	GUncertain significance
Select item 2775400	NG_007667.1:g.(47337390_47336011)_(47331406_?)del	MYBPC3	Deletion	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 2687479	NM_000256.3(MYBPC3):c.3747_3748insGG (p.Ile1250fs)	MYBPC3 (I1250fs)	Insertion (frameshift variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 2683830	NM_001256715.2(DNAAF3):c.331G>A (p.Glu111Lys)	DNAAF3, DNAAF3-AS1 +1 more (E111K +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 2665104	NC_000011.10:g.(47329894_47331627)_(47335115_47335951)del	MADD, MYBPC3	Deletion	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 2627556	NM_000256.3(MYBPC3):c.3460delinsCT (p.Thr1154fs)	MYBPC3 (T1154fs)	Indel (frameshift variant)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 2584336	NM_000256.3(MYBPC3):c.2678del (p.Pro893fs)	MYBPC3 (P893fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 2582845	NM_000256.3(MYBPC3):c.909-18C>G	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4	GUncertain significance
Select item 2582595	NM_000256.3(MYBPC3):c.226C>T (p.Gln76Ter)	MYBPC3 (Q76*)	Single nucleotide variant (nonsense)	MYBPC3-related condition +2 more	GPathogenic
Select item 2580978	NM_000256.3(MYBPC3):c.2602+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 2577006	NM_000256.3(MYBPC3):c.655-25A>G	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4	GLikely benign
Select item 2577005	NM_000256.3(MYBPC3):c.505+1dup	MYBPC3	Duplication (splice donor variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 2577004	NM_000256.3(MYBPC3):c.3020G>A (p.Trp1007Ter)	MYBPC3 (W1007*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 2577003	NM_000256.3(MYBPC3):c.2806_2807del (p.Thr936fs)	MYBPC3 (T936fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 2577002	NM_000256.3(MYBPC3):c.1575_1588del (p.Tyr525_Ser530delinsTer)	MYBPC3	Deletion (nonsense)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 2574108	NM_000256.3(MYBPC3):c.1280C>A (p.Ser427Ter)	MYBPC3 (S427*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 2572994	NM_000256.3(MYBPC3):c.1302C>G (p.Tyr434Ter)	MYBPC3 (Y434*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 2570634	NM_000256.3(MYBPC3):c.1652_1656del (p.Ile551fs)	MYBPC3 (I551fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 2507019	NM_000256.3(MYBPC3):c.2778_2781dup (p.Ser928fs)	MYBPC3 (S928fs)	Microsatellite (frameshift variant)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 2505579	NM_000256.3(MYBPC3):c.560del (p.Pro187fs)	MYBPC3 (P187fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 2505346	NM_000256.3(MYBPC3):c.1329T>A (p.Cys443Ter)	MYBPC3 (C443*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 2444426	NM_000256.3(MYBPC3):c.482C>G (p.Pro161Arg)	MYBPC3 (P161R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 2444406	NM_000256.3(MYBPC3):c.388del (p.Ser130fs)	MYBPC3 (S130fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 2444392	NM_000256.3(MYBPC3):c.2240del (p.Gly747fs)	MYBPC3 (G747fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 2444293	NM_000256.3(MYBPC3):c.26-1G>T	MYBPC3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 2444212	NM_000256.3(MYBPC3):c.2067+2del	MYBPC3	Deletion (splice donor variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 2444081	NM_000256.3(MYBPC3):c.1113_1116del (p.Ala372fs)	MYBPC3 (A372fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 2444036	NM_000256.3(MYBPC3):c.3677dup (p.Phe1227fs)	MYBPC3 (F1227fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 2137067	NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs)	MYBPC3 (L1238fs)	Deletion (frameshift variant)	Cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 2075185	NM_000256.3(MYBPC3):c.2729del (p.Pro910fs)	MYBPC3 (P910fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4 +2 more	GPathogenic
Select item 1803137	NM_000256.3(MYBPC3):c.3471del (p.Val1158fs)	MYBPC3 (V1158fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 1709166	NM_000256.3(MYBPC3):c.3227_3233del (p.Asp1076fs)	MYBPC3 (D1076fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 1705408	NM_000256.3(MYBPC3):c.2413G>A (p.Gly805Ser)	MYBPC3 (G805S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4	GUncertain significance
Select item 1705387	NM_000256.3(MYBPC3):c.2449del (p.Arg817fs)	MYBPC3 (R817fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 1705378	NM_000256.3(MYBPC3):c.1595dup (p.Gln533fs)	MYBPC3 (Q533fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 1705335	NM_000256.3(MYBPC3):c.3805G>T (p.Glu1269Ter)	MYBPC3 (E1269*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 1690368	NM_000256.3(MYBPC3):c.773-1G>C	MYBPC3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 1687419	NM_000256.3(MYBPC3):c.1526_1527del (p.Arg509fs)	MYBPC3 (R509fs)	Microsatellite (frameshift variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 1687285	NM_000256.3(MYBPC3):c.3168del (p.Thr1057fs)	MYBPC3 (T1057fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 1687241	NM_000256.3(MYBPC3):c.3768_3771del (p.Asn1257fs)	MYBPC3 (N1257fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 1687205	NM_000256.3(MYBPC3):c.1645C>T (p.Gln549Ter)	MYBPC3 (Q549*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 1677813	NM_000256.3(MYBPC3):c.35T>C (p.Phe12Ser)	MYBPC3 (F12S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +2 more	GUncertain significance
Select item 1677564	NM_000256.3(MYBPC3):c.2543C>T (p.Ala848Val)	MYBPC3 (A848V)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +2 more	GUncertain significance
Select item 1545262	NM_000256.3(MYBPC3):c.773-18T>C	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +2 more	GBenign/Likely benign
Select item 1509120	NM_000256.3(MYBPC3):c.901A>C (p.Lys301Gln)	MYBPC3 (K301Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +2 more	GUncertain significance
Select item 1489518	NM_000256.3(MYBPC3):c.292+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 4 +2 more	GConflicting classifications of pathogenicity
Select item 1487885	NM_000256.3(MYBPC3):c.407-1G>A	MYBPC3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 4 +2 more	GLikely pathogenic
Select item 1468783	NM_000256.3(MYBPC3):c.2816G>C (p.Arg939Pro)	MYBPC3 (R939P)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 1454685	NM_000256.3(MYBPC3):c.2578_2590dup (p.Phe864fs)	MYBPC3 (F864fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 1383870	NM_000256.3(MYBPC3):c.2788C>G (p.Leu930Val)	MYBPC3 (L930V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1333968	NM_000256.3(MYBPC3):c.1927+1G>T	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 1333568	NM_000256.3(MYBPC3):c.86del (p.Phe29fs)	MYBPC3 (F29fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 1333510	NM_000256.3(MYBPC3):c.1609G>T (p.Glu537Ter)	MYBPC3 (E537*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +1 more	GPathogenic/Likely pathogenic
Select item 1333490	NM_000256.3(MYBPC3):c.655-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy +1 more	GLikely pathogenic
Select item 1333356	NM_000256.3(MYBPC3):c.2149-2A>C	MYBPC3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 1333262	NM_000256.3(MYBPC3):c.3313_3314insGG (p.Ala1105fs)	MYBPC3 (A1105fs)	Insertion (frameshift variant)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 1332367	NM_000256.3(MYBPC3):c.1167C>G (p.Asp389Glu)	MYBPC3 (D389E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +3 more	GUncertain significance
Select item 1330863	NM_000256.3(MYBPC3):c.2849C>A (p.Ala950Glu)	MYBPC3 (A950E)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +2 more	GUncertain significance
Select item 1301741	NM_000256.3(MYBPC3):c.2148+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1299596	NM_000256.3(MYBPC3):c.1669G>T (p.Gly557Cys)	MYBPC3 (G557C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4	GUncertain significance
Select item 1285446	NM_000256.3(MYBPC3):c.1432_1436delinsGC (p.Ser478_Glu479delinsAla)	MYBPC3	Indel (inframe_indel)	Hypertrophic cardiomyopathy 4	GUncertain significance
Select item 1172441	NM_000256.3(MYBPC3):c.3340A>G (p.Thr1114Ala)	MYBPC3 (T1114A)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 1171602	NM_000256.3(MYBPC3):c.3197C>G (p.Pro1066Arg)	MYBPC3 (P1066R)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1074339	NM_000256.3(MYBPC3):c.2164G>T (p.Glu722Ter)	MYBPC3 (E722*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +1 more	GPathogenic
Select item 1062531	NM_000256.3(MYBPC3):c.1454A>G (p.Lys485Arg)	MYBPC3 (K485R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +3 more	GUncertain significance
Select item 1053754	NM_000256.3(MYBPC3):c.2149-80G>A	MYBPC3	Single nucleotide variant (intron variant)	Left ventricular noncompaction 10 +2 more	GUncertain significance
Select item 1037338	NM_000256.3(MYBPC3):c.1585A>T (p.Thr529Ser)	MYBPC3 (T529S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +2 more	GUncertain significance
Select item 992400	NM_000256.3(MYBPC3):c.3620del (p.Ser1207fs)	MYBPC3 (S1207fs)	Deletion (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 986353	NM_000256.3(MYBPC3):c.3766del (p.Thr1256fs)	MYBPC3 (T1256fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4 +1 more	GPathogenic
Select item 978729	NM_000256.3(MYBPC3):c.2711_2737del (p.Tyr904_Gly912del)	MYBPC3	Deletion (inframe_deletion)	Hypertrophic cardiomyopathy 4 +1 more	GLikely pathogenic
Select item 963722	NM_000256.3(MYBPC3):c.1128del (p.Ser376fs)	MYBPC3 (S376fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4 +1 more	GPathogenic/Likely pathogenic
Select item 960135	NM_000257.4(MYH7):c.5769del (p.Ser1924fs)	MYH7 (S1924fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4 +3 more	GConflicting classifications of pathogenicity
Select item 941727	NM_000256.3(MYBPC3):c.821+6T>C	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4 +2 more	GUncertain significance
Select item 932074	NM_000256.3(MYBPC3):c.3785C>T (p.Ala1262Val)	MYBPC3 (A1262V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4	GUncertain significance
Select item 931252	NM_000256.3(MYBPC3):c.1010C>T (p.Ala337Val)	MYBPC3 (A337V)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 928311	NM_000256.3(MYBPC3):c.630C>T (p.His210=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 4 +4 more	GLikely benign
Select item 927445	NM_000256.3(MYBPC3):c.592G>A (p.Asp198Asn)	MYBPC3 (D198N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +2 more	GUncertain significance
Select item 927050	NM_000256.3(MYBPC3):c.2327C>T (p.Ala776Val)	MYBPC3 (A776V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 927013	NM_000256.3(MYBPC3):c.372C>A (p.Ala124=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 926890	NM_000256.3(MYBPC3):c.1521G>A (p.Gly507=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 4 +3 more	GLikely benign
Select item 925971	NM_000256.3(MYBPC3):c.2470G>A (p.Asp824Asn)	MYBPC3 (D824N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +3 more	GUncertain significance
Select item 925428	NM_000256.3(MYBPC3):c.2915G>A (p.Arg972Gln)	MYBPC3 (R972Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 925347	NM_000256.3(MYBPC3):c.2965G>A (p.Glu989Lys)	MYBPC3 (E989K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 924466	NM_000256.3(MYBPC3):c.2198G>T (p.Arg733Leu)	MYBPC3 (R733L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 921977	NM_000256.3(MYBPC3):c.1899G>A (p.Glu633=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 921244	NM_000256.3(MYBPC3):c.1227-9C>A	MYBPC3	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 921040	NM_000256.3(MYBPC3):c.133G>A (p.Gly45Arg)	MYBPC3 (G45R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 920709	NM_000256.3(MYBPC3):c.1578A>G (p.Ala526=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 4 +2 more	GLikely benign
Select item 919996	NM_000256.3(MYBPC3):c.3072C>A (p.Ser1024Arg)	MYBPC3 (S1024R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +2 more	GUncertain significance
Select item 919921	NM_000256.3(MYBPC3):c.2399G>A (p.Gly800Glu)	MYBPC3 (G800E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 919413	NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln)	MYBPC3 (R1271Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 919287	NM_000256.3(MYBPC3):c.2273G>A (p.Gly758Asp)	MYBPC3 (G758D)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 918779	NM_000256.3(MYBPC3):c.1601C>T (p.Ala534Val)	MYBPC3 (A534V)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 918284	NM_000256.3(MYBPC3):c.2708G>A (p.Gly903Asp)	MYBPC3 (G903D)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +3 more	GUncertain significance
Select item 915781	NM_000256.3(MYBPC3):c.1375C>T (p.Pro459Ser)	MYBPC3 (P459S)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 915723	NM_000256.3(MYBPC3):c.3759dup (p.Arg1254fs)	MYBPC3 (R1254fs)	Duplication (frameshift variant)	Cardiomyopathy +1 more	GLikely pathogenic
Select item 880308	NM_000256.3(MYBPC3):c.852-14G>T	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4 +3 more	GConflicting classifications of pathogenicity
Select item 880254	NM_000256.3(MYBPC3):c.1638G>A (p.Glu546=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 4 +2 more	GConflicting classifications of pathogenicity
Select item 880112	NM_000256.3(MYBPC3):c.3810G>A (p.Val1270=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 4 +4 more	GConflicting classifications of pathogenicity

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