ClinVar Miner

List of variants in gene MYBPC3 reported as pathogenic for Hypertrophic cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 263
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HGVS dbSNP
NC_000011.9:g.(?_47353396)_(47357562_?)del
NC_000011.9:g.(?_47353402)_(47370112_?)del
NC_000011.9:g.(?_47353402)_(47374218_?)del
NC_000011.9:g.(?_47357408)_(47360310_?)del
NC_000011.9:g.(?_47368957)_(47374218_?)del
NC_000011.9:g.(?_47370117)_(47373066_?)del
NC_000011.9:g.(?_47371325)_(47373056_?)del
NM_000256.3(MYBPC3):c.(2148+1_2149-1)_(2737+1_2738-1)del
NM_000256.3(MYBPC3):c.(?_2906)_(3627_?)del
NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter) rs573916965
NM_000256.3(MYBPC3):c.1028del (p.Thr343fs) rs730880686
NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs) rs730880336
NM_000256.3(MYBPC3):c.1075G>T (p.Glu359Ter) rs876657702
NM_000256.3(MYBPC3):c.1084dup (p.Ser362fs) rs730880723
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1090+1G>T rs727504269
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.1091-?_2308+?del
NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs) rs869025465
NM_000256.3(MYBPC3):c.1156G>T (p.Glu386Ter) rs397515888
NM_000256.3(MYBPC3):c.1168del (p.His390fs) rs397515889
NM_000256.3(MYBPC3):c.1174del (p.Ala392fs) rs1565628486
NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter) rs727504329
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893
NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer) rs397515894
NM_000256.3(MYBPC3):c.1236dup (p.Glu413Ter) rs397515894
NM_000256.3(MYBPC3):c.1273C>T (p.Gln425Ter) rs397515895
NM_000256.3(MYBPC3):c.1310del (p.Val437fs) rs397515896
NM_000256.3(MYBPC3):c.1319_1328del (p.Gly440fs)
NM_000256.3(MYBPC3):c.1330del (p.Ser444fs) rs727505152
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs) rs727503203
NM_000256.3(MYBPC3):c.1377del (p.Leu460fs) rs786204339
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs) rs886037900
NM_000256.3(MYBPC3):c.1422del (p.Glu474fs) rs1565628062
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs)
NM_000256.3(MYBPC3):c.1444dup (p.Ala482fs) rs876657703
NM_000256.3(MYBPC3):c.1458-1G>A rs397515903
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907
NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter) rs730880544
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1595del (p.Gly532fs) rs730880640
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1628del (p.Lys543fs) rs727504248
NM_000256.3(MYBPC3):c.162del (p.Lys54fs) rs864622224
NM_000256.3(MYBPC3):c.1633_1640del (p.Leu545fs) rs878853831
NM_000256.3(MYBPC3):c.1639_1640GT[1] (p.Tyr548fs) rs398123279
NM_000256.3(MYBPC3):c.1678del (p.Asp560fs) rs727504366
NM_000256.3(MYBPC3):c.1693A>T (p.Lys565Ter) rs397515920
NM_000256.3(MYBPC3):c.1700_1701del (p.Glu567fs) rs727503197
NM_000256.3(MYBPC3):c.1725_1726TG[2] (p.Trp577fs) rs1565627536
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter) rs730880546
NM_000256.3(MYBPC3):c.1734del (p.Lys579fs) rs730880646
NM_000256.3(MYBPC3):c.1755del (p.Asp587fs)
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs) rs397515926
NM_000256.3(MYBPC3):c.1863del (p.Phe621fs) rs397515931
NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter) rs397515932
NM_000256.3(MYBPC3):c.1892del (p.Phe631fs) rs397515933
NM_000256.3(MYBPC3):c.1895del (p.Met632fs) rs397515934
NM_000256.3(MYBPC3):c.1897+1G>A rs397515935
NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter) rs727504293
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs) rs727503192
NM_000256.3(MYBPC3):c.2003dup (p.Leu669fs) rs1565626409
NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs) rs397515943
NM_000256.3(MYBPC3):c.2040dup (p.Val681fs) rs397515944
NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter) rs397515942
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter) rs863224483
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs) rs397515947
NM_000256.3(MYBPC3):c.2113dup (p.Thr705fs) rs397515948
NM_000256.3(MYBPC3):c.2149-1G>A rs727504334
NM_000256.3(MYBPC3):c.214_215dup (p.Pro73fs) rs730880362
NM_000256.3(MYBPC3):c.2163del (p.Glu722fs) rs397515952
NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter) rs397515954
NM_000256.3(MYBPC3):c.221delCinsTT (p.Ala74Valfs) rs1555123743
NM_000256.3(MYBPC3):c.2265C>A (p.Asn755Lys) rs1060501474
NM_000256.3(MYBPC3):c.2267del (p.Pro756fs) rs730880651
NM_000256.3(MYBPC3):c.2279del (p.Asp760fs) rs1060501478
NM_000256.3(MYBPC3):c.2305_2308dup (p.Val771Argfs) rs1565625777
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.2308+1G>T rs112738974
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.2311dup (p.Val771fs) rs397515960
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2377dup (p.Glu793fs) rs1565625473
NM_000256.3(MYBPC3):c.237C>A (p.Tyr79Ter) rs730880698
NM_000256.3(MYBPC3):c.237C>G (p.Tyr79Ter) rs730880698
NM_000256.3(MYBPC3):c.237del (p.Ser78_Tyr79insTer) rs730880664
NM_000256.3(MYBPC3):c.2391C>A (p.Tyr797Ter) rs727504864
NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs) rs730880341
NM_000256.3(MYBPC3):c.2437A>T (p.Lys813Ter) rs727504252
NM_000256.3(MYBPC3):c.2438del (p.Lys813fs)
NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter) rs397515965
NM_000256.3(MYBPC3):c.2455_2459del (p.Met819fs) rs730880652
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs) rs730880653
NM_000256.3(MYBPC3):c.2512G>T (p.Glu838Ter) rs397515969
NM_000256.3(MYBPC3):c.2517_2538del (p.Val840fs) rs727503187
NM_000256.3(MYBPC3):c.2524dup (p.Tyr842fs) rs397515970
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs) rs397515973
NM_000256.3(MYBPC3):c.2541C>A (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2541_2542CG[3] (p.Val849fs)
NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs) rs397515975
NM_000256.3(MYBPC3):c.2556del (p.Ile852fs) rs727503186
NM_000256.3(MYBPC3):c.2558del (p.Gly853fs) rs397515977
NM_000256.3(MYBPC3):c.2568del (p.Arg856fs) rs1555121172
NM_000256.3(MYBPC3):c.2572_2573insAA (p.Ser858fs) rs1060501481
NM_000256.3(MYBPC3):c.2572_2576dup (p.Ser861fs)
NM_000256.3(MYBPC3):c.257_259delinsGGAGG (p.Ser86fs) rs1064792936
NM_000256.3(MYBPC3):c.26-2A>G rs376395543
NM_000256.3(MYBPC3):c.2604_2605delinsA (p.Ser871fs) rs727504371
NM_000256.3(MYBPC3):c.2610dup (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2648_2673dup (p.Pro892fs) rs1555120937
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2709_2719del (p.Tyr904fs) rs730880657
NM_000256.3(MYBPC3):c.2737+1G>A rs727504314
NM_000256.3(MYBPC3):c.2737+1G>C rs727504314
NM_000256.3(MYBPC3):c.2737+2T>A rs727503184
NM_000256.3(MYBPC3):c.2747G>A (p.Trp916Ter) rs727504349
NM_000256.3(MYBPC3):c.2748G>A (p.Trp916Ter) rs730880576
NM_000256.3(MYBPC3):c.2776_2777CA[2] (p.Thr927fs) rs727504265
NM_000256.3(MYBPC3):c.2789del (p.Leu930fs) rs876657705
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs) rs397515987
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990
NM_000256.3(MYBPC3):c.2868dup (p.Thr957fs) rs1565624090
NM_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs) rs727503182
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2905+1G>C rs397515991
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.2906-2A>G rs727504333
NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter) rs727503180
NM_000256.3(MYBPC3):c.292G>T (p.Glu98Ter) rs868819340
NM_000256.3(MYBPC3):c.2943_2947del (p.Gln981fs) rs397515995
NM_000256.3(MYBPC3):c.2950C>T (p.Gln984Ter) rs1555120651
NM_000256.3(MYBPC3):c.2953A>T (p.Lys985Ter) rs727504423
NM_000256.3(MYBPC3):c.2965G>T (p.Glu989Ter) rs727503178
NM_000256.3(MYBPC3):c.2994+2T>C rs727503176
NM_000256.3(MYBPC3):c.299_308del (p.Ala100fs) rs1565631430
NM_000256.3(MYBPC3):c.3040del (p.Leu1014fs) rs397515997
NM_000256.3(MYBPC3):c.305_308dup (p.Met103fs) rs1555123633
NM_000256.3(MYBPC3):c.3068dup (p.Asn1023fs) rs397516001
NM_000256.3(MYBPC3):c.3079delGinsAA rs730880666
NM_000256.3(MYBPC3):c.3089_3101del (p.Leu1030fs) rs727503175
NM_000256.3(MYBPC3):c.3100del (p.Ala1034fs) rs1060501475
NM_000256.3(MYBPC3):c.310del (p.Leu104fs) rs1565631428
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs) rs1064793202
NM_000256.3(MYBPC3):c.3129C>A (p.Tyr1043Ter) rs573821685
NM_000256.3(MYBPC3):c.313del (p.Ala105fs) rs1565631424
NM_000256.3(MYBPC3):c.3166dup (p.Ala1056fs) rs727503174
NM_000256.3(MYBPC3):c.317del (p.Pro106fs) rs1555123629
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) rs397516005
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958
NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs) rs397516007
NM_000256.3(MYBPC3):c.3217dup (p.Arg1073fs) rs730880668
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs) rs397516008
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter) rs397516006
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter) rs397516010
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) rs727503172
NM_000256.3(MYBPC3):c.3293G>A (p.Trp1098Ter) rs397516013
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs) rs397516014
NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs) rs730880672
NM_000256.3(MYBPC3):c.3330+2T>C rs387906397
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397
NM_000256.3(MYBPC3):c.3330+5G>A rs373746463
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3331-1G>A rs727504305
NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter) rs730880337
NM_000256.3(MYBPC3):c.3335G>A (p.Trp1112Ter) rs727504276
NM_000256.3(MYBPC3):c.333dup (p.Glu112Ter) rs730880335
NM_000256.3(MYBPC3):c.3357C>A (p.Tyr1119Ter) rs1565622952
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter) rs193922383
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs) rs730880720
NM_000256.3(MYBPC3):c.3476_3477del (p.Phe1159fs) rs727504321
NM_000256.3(MYBPC3):c.3476_3479dup (p.Pro1161fs) rs397516019
NM_000256.3(MYBPC3):c.3490+1G>A rs397516020
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020
NM_000256.3(MYBPC3):c.3491-2A>T rs397516022
NM_000256.3(MYBPC3):c.350del (p.Pro117fs) rs397516023
NM_000256.3(MYBPC3):c.3512del (p.Asn1171fs) rs876657706
NM_000256.3(MYBPC3):c.3570_3573del (p.Val1192fs)
NM_000256.3(MYBPC3):c.3600_3609del (p.Cys1201fs) rs727504271
NM_000256.3(MYBPC3):c.3617del (p.Gly1206fs) rs1060501484
NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.3627+1G>A rs397516031
NM_000256.3(MYBPC3):c.3627+2T>G
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.362del (p.Pro121fs) rs397516032
NM_000256.3(MYBPC3):c.3641G>A (p.Trp1214Ter) rs730880597
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949
NM_000256.3(MYBPC3):c.3644dup (p.Lys1216fs) rs730880361
NM_000256.3(MYBPC3):c.3665del (p.Gly1222fs) rs1060501480
NM_000256.3(MYBPC3):c.3690_3691del (p.Phe1230fs) rs727504390
NM_000256.3(MYBPC3):c.3694A>T (p.Lys1232Ter) rs397516035
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs) rs397516038
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3753T>G (p.Tyr1251Ter) rs397516039
NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter) rs730880604
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) rs727503166
NM_000256.3(MYBPC3):c.3799del (p.Arg1267fs)
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042
NM_000256.3(MYBPC3):c.431_432del (p.Gly144fs) rs397516047
NM_000256.3(MYBPC3):c.436dup (p.Thr146fs) rs397516049
NM_000256.3(MYBPC3):c.440del (p.Pro147fs)
NM_000256.3(MYBPC3):c.459del (p.Ile154fs) rs397516052
NM_000256.3(MYBPC3):c.466dup (p.Leu156Profs) rs730880366
NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter)
NM_000256.3(MYBPC3):c.506-1G>A rs397516056
NM_000256.3(MYBPC3):c.506-1G>T rs397516056
NM_000256.3(MYBPC3):c.506-2A>C rs397516057
NM_000256.3(MYBPC3):c.506-3_506dup rs1555123438
NM_000256.3(MYBPC3):c.533del (p.Val178fs) rs727503217
NM_000256.3(MYBPC3):c.541_560del (p.Ala181fs) rs397516058
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter) rs397516061
NM_000256.3(MYBPC3):c.655-1G>A rs397516067
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.65_66insG (p.Ala23fs) rs1060501479
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs) rs786204329
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.711C>A (p.Tyr237Ter) rs774316050
NM_000256.3(MYBPC3):c.747C>A (p.Cys249Ter) rs771929829
NM_000256.3(MYBPC3):c.772+1G>A rs397516072
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.821+1G>A rs397516073
NM_000256.3(MYBPC3):c.821+1G>C rs397516073
NM_000256.3(MYBPC3):c.821+2T>A
NM_000256.3(MYBPC3):c.821+2T>C rs397516076
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.852-2A>G rs1565629792
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter) rs730880629
NM_000256.3(MYBPC3):c.906-36G>A rs864622197
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000256.3(MYBPC3):c.926+1G>A rs767239679
NM_000256.3(MYBPC3):c.926+1_926+5del rs1555122811
NM_000256.3(MYBPC3):c.927-2A>G rs397516082
NM_000256.3(MYBPC3):c.927-9G>A rs397516083
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter) rs727503211
NM_000256.3(MYBPC3):c.979C>T (p.Gln327Ter) rs727503210
NM_000256.3(MYBPC3):c.984_1054del (p.Pro329fs) rs1555122751
NM_000256.3(MYBPC3):c.993dup (p.Glu332Ter) rs727503209
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter) rs367947846

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