ClinVar Miner

List of variants reported as likely pathogenic for Primary familial hypertrophic cardiomyopathy

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Total variants: 110
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HGVS dbSNP
NM_000169.2(GLA):c.1042G>C (p.Ala348Pro)
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.869T>C (p.Met290Thr)
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) rs397515884
NM_000256.3(MYBPC3):c.1091-1G>A rs730880143
NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs) rs869025465
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.145_150delinsTGATGAG (p.Ile49_Ser50delinsTer) rs869025462
NM_000256.3(MYBPC3):c.1505_1509del (p.Arg502fs) rs587782957
NM_000256.3(MYBPC3):c.1575T>A (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1625-1G>A rs869025466
NM_000256.3(MYBPC3):c.1639_1640GT[1] (p.Tyr548fs) rs398123279
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys) rs727503194
NM_000256.3(MYBPC3):c.1927+2T>C rs869025467
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.2097del (p.Asp700fs) rs869025460
NM_000256.3(MYBPC3):c.221delinsTT (p.Ala74fs) rs1555123743
NM_000256.3(MYBPC3):c.229G>T (p.Gly77Ter) rs869025459
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966
NM_000256.3(MYBPC3):c.26-2A>G rs376395543
NM_000256.3(MYBPC3):c.2908C>T (p.Arg970Trp) rs730880138
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln) rs727504235
NM_000256.3(MYBPC3):c.3043dup (p.Ala1015fs) rs869025468
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile) rs397516002
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770
NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter) rs869025461
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter) rs397516010
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs) rs397516014
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469
NM_000256.3(MYBPC3):c.3404_3406ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.357del (p.Ala120fs) rs869025463
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171
NM_000256.3(MYBPC3):c.3694A>T (p.Lys1232Ter) rs397516035
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr) rs397516041
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042
NM_000256.3(MYBPC3):c.3814+2T>C rs869025470
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.441_442del (p.Gly148fs) rs869025464
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.852-1G>T rs368121566
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1178C>T (p.Ala393Val) rs869025477
NM_000257.4(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.4(MYH7):c.1331A>C (p.Asn444Thr) rs730880159
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101
NM_000257.4(MYH7):c.1627G>A (p.Ala543Thr) rs730880160
NM_000257.4(MYH7):c.1750G>T (p.Gly584Cys) rs121913626
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630
NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro) rs397516142
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173
NM_000257.4(MYH7):c.2744T>C (p.Leu915Pro) rs397516166
NM_000257.4(MYH7):c.2785G>A (p.Glu929Lys) rs730880161
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.3622G>A (p.Asp1208Asn) rs730880781
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln) rs727504273
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000257.4(MYH7):c.789A>G (p.Ile263Met) rs730880855
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000258.2(MYL3):c.235G>A (p.Val79Ile) rs150634297
NM_000258.2(MYL3):c.383G>A (p.Gly128Asp) rs869025485
NM_000258.2(MYL3):c.447G>A (p.Met149Ile) rs730880162
NM_000363.5(TNNI3):c.526G>A (p.Val176Met) rs727503501
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285
NM_000364.4(TNNT2):c.341C>T (p.Ala114Val) rs727504245
NM_000364.4(TNNT2):c.451del (p.Arg151fs) rs730881115
NM_000364.4(TNNT2):c.794A>T (p.Lys265Ile) rs397516482
NM_000364.4(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000364.4(TNNT2):c.878G>A (p.Arg293His) rs141121678
NM_000432.3(MYL2):c.239C>A (p.Thr80Asn) rs587782965
NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000432.3(MYL2):c.80A>G (p.Gln27Arg) rs397516408
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_002880.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.3(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002880.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_003673.3(TCAP):c.1A>G (p.Met1Val) rs1567864804
NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu) rs193922681
NM_013995.2(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_020433.4(JPH2):c.482C>A (p.Thr161Lys) rs587782951
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164
NM_172056.2(KCNH2):c.1862G>A (p.Ser621Asn) rs199472948

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