MYH7 — 4666 ClinVar variants

Pathogenic 75

• p.Arg1053Gln Expert panel hypertrophic cardiomyopathy
• p.Arg143Trp Expert panel hypertrophic cardiomyopathy
• p.Arg403Gln Expert panel hypertrophic cardiomyopathy
• p.Arg403Trp Expert panel hypertrophic cardiomyopathy
• p.Arg453Cys Expert panel hypertrophic cardiomyopathy
• p.Arg453His Expert panel hypertrophic cardiomyopathy
• p.Arg453Ser Expert panel hypertrophic cardiomyopathy
• p.Arg663His Expert panel hypertrophic cardiomyopathy ⚠
• p.Arg719Gln Expert panel hypertrophic cardiomyopathy ⚠
• p.Arg719Trp Expert panel hypertrophic cardiomyopathy ⚠
• p.Arg723Cys Expert panel hypertrophic cardiomyopathy
• p.Arg723Gly Expert panel hypertrophic cardiomyopathy
• p.Arg870His Expert panel hypertrophic cardiomyopathy ⚠
• p.Arg904Cys Expert panel dilated cardiomyopathy
• p.Arg904His Expert panel dilated cardiomyopathy
• p.Asp906Gly Expert panel hypertrophic cardiomyopathy
• p.Glu1356Lys Expert panel hypertrophic cardiomyopathy
• p.Glu894Gly Expert panel hypertrophic cardiomyopathy
• p.Gly584Arg Expert panel hypertrophic cardiomyopathy
• p.Gly716Arg Expert panel hypertrophic cardiomyopathy
• p.Gly741Arg Expert panel hypertrophic cardiomyopathy
• p.Gly741Trp Expert panel hypertrophic cardiomyopathy
• p.Ile263Thr Expert panel hypertrophic cardiomyopathy
• p.Ile736Thr Expert panel hypertrophic cardiomyopathy
• p.Leu908Val Expert panel hypertrophic cardiomyopathy
• p.Lys847Glu Expert panel hypertrophic cardiomyopathy
• p.Ser532Pro Expert panel dilated cardiomyopathy
• p.Thr1377Met Expert panel hypertrophic cardiomyopathy
• p.Arg1500Pro Multiple submitters hypertrophic cardiomyopathy
• p.Glu930Lys Multiple submitters MYH7-related disorder
• p.Gly256Glu Multiple submitters Cardiovascular phenotype
• p.Val606Met Multiple submitters MYH7-related disorder
• c.2163-1G>A Single submitter dilated cardiomyopathy 1S
• c.5790+2del Single submitter hypertrophic cardiomyopathy
• c.732+2T>C Single submitter hypertrophic cardiomyopathy
• c.732+2T>G Single submitter hypertrophic cardiomyopathy
• p.Ala254Glu Single submitter hypertrophic cardiomyopathy
• p.Ala426Val Single submitter
• p.Ala729Pro Single submitter hypertrophic cardiomyopathy 1
• p.Arg243Pro Single submitter hypertrophic cardiomyopathy
• p.Arg249Pro Single submitter hypertrophic cardiomyopathy
• p.Arg652Lys Single submitter Cardiovascular phenotype
• p.Arg712Ser Single submitter hypertrophic cardiomyopathy
• p.Asn1918Lys Single submitter
• p.Asp1208His Single submitter hypertrophic cardiomyopathy
• p.Asp382Gly Single submitter hypertrophic cardiomyopathy
• p.Asp717Ala Single submitter Cardiovascular phenotype
• p.Asp717Gly Single submitter hypertrophic cardiomyopathy
• p.Gln1865Pro Single submitter hypertrophic cardiomyopathy
• p.Glu1350Lys Single submitter hypertrophic cardiomyopathy
• p.Glu903Gln Single submitter hypertrophic cardiomyopathy
• p.Glu935Lys Single submitter hypertrophic cardiomyopathy
• p.Ile467Asn Single submitter hypertrophic cardiomyopathy
• p.Leu1533Pro Single submitter hypertrophic cardiomyopathy
• p.Leu387Phe Single submitter hypertrophic cardiomyopathy
• p.Leu601Phe Single submitter hypertrophic cardiomyopathy
• p.Leu655Met Single submitter dilated cardiomyopathy 1S
• p.Lys450Asn Single submitter hypertrophic cardiomyopathy 1
• p.Lys611Asn Single submitter hypertrophic cardiomyopathy 1 ⚠
• p.Met515Arg Single submitter hypertrophic cardiomyopathy
• p.Met515Val Single submitter hypertrophic cardiomyopathy 1
• p.Phe244Leu Single submitter
• p.Thr412Ser Single submitter ⚠
• p.Thr604Ala Single submitter
• p.Tyr65Ter Single submitter MYH7-related disorder
• c.1956+2T>G No assertion criteria familial cardiomyopathy
• p.Asn676fs No assertion criteria familial cardiomyopathy
• p.His1901Leu No assertion criteria congenital myopathy 7A, myosin storage, autosomal dominant
• p.His358Leu No assertion criteria familial cardiomyopathy
• p.Leu1481Pro No assertion criteria MYH7-related skeletal myopathy
• p.Leu1793del No assertion criteria dilated cardiomyopathy 1S
• p.Met684Arg No assertion criteria familial cardiomyopathy
• p.Phe510Leu No assertion criteria familial cardiomyopathy
• p.Phe513Cys No assertion criteria hypertrophic cardiomyopathy 1
• p.Ser384Tyr No assertion criteria familial cardiomyopathy

Pathogenic/Likely pathogenic 66

• c.5655+5G>C Multiple submitters hypertrophic cardiomyopathy
• c.732+1del Multiple submitters congenital myopathy 7A, myosin storage, autosomal dominant
• c.732+1G>A Multiple submitters MYH7-related disorder
• c.732+1G>C Multiple submitters hypertrophic cardiomyopathy
• c.732+1G>T Multiple submitters cardiomyopathy
• p.Ala1379Thr Multiple submitters MYH7-related disorder
• p.Ala1437Pro Multiple submitters myopathy, myosin storage, autosomal recessive
• p.Ala199Val Multiple submitters hypertrophic cardiomyopathy
• p.Ala355Thr Multiple submitters MYH7-related disorder
• p.Ala428Asp Multiple submitters Left ventricular noncompaction cardiomyopathy
• p.Arg1420Gln Multiple submitters Cardiovascular phenotype
• p.Arg1500Trp Multiple submitters dilated cardiomyopathy 1S
• p.Arg204His Multiple submitters MYH7-related disorder ⚠
• p.Arg249Gln Multiple submitters MYH7-related disorder
• p.Arg281Thr Multiple submitters MYH7-related disorder
• p.Arg403Leu Multiple submitters Cardiovascular phenotype
• p.Arg442Cys Multiple submitters Cardiovascular phenotype
• p.Arg652Gly Multiple submitters Cardiovascular phenotype
• p.Arg663Cys Multiple submitters MYH7-related disorder
• p.Arg663Ser Multiple submitters hypertrophic cardiomyopathy 1
• p.Arg671Cys Multiple submitters Cardiovascular phenotype
• p.Arg694Cys Multiple submitters Cardiovascular phenotype
• p.Arg694His Multiple submitters MYH7-related disorder
• p.Arg904Pro Multiple submitters Cardiovascular phenotype
• p.Asn444Ser Multiple submitters Cardiovascular phenotype
• p.Asn479Ser Multiple submitters MYH7-related disorder
• p.Asn602Ser Multiple submitters Cardiovascular phenotype
• p.Asn696Ser Multiple submitters hypertrophic cardiomyopathy
• p.Asp394Glu Multiple submitters MYH7-related disorder ⚠
• p.Asp928Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Glu483Lys Multiple submitters MYH7-related disorder
• p.Glu497Asp Multiple submitters MYH7-related disorder
• p.Glu525Lys Multiple submitters hypertrophic cardiomyopathy 1
• p.Glu848Gly Multiple submitters Cardiovascular phenotype
• p.Glu921Lys Multiple submitters Cardiovascular phenotype
• p.Glu924Lys Multiple submitters MYH7-related disorder
• p.Glu927Lys Multiple submitters MYH7-related disorder
• p.Glu930Gln Multiple submitters hypertrophic cardiomyopathy 1
• p.Glu931Lys Multiple submitters hypertrophic cardiomyopathy
• p.Gly584Ser Multiple submitters MYH7-related disorder
• p.Gly641Ala Multiple submitters dilated cardiomyopathy
• p.Gly708Ala Multiple submitters hypertrophic cardiomyopathy
• p.Gly741Glu Multiple submitters hypertrophic cardiomyopathy
• p.His576Arg Multiple submitters dilated cardiomyopathy 1S
• p.Ile201Thr Multiple submitters MYH7-related disorder ⚠
• p.Ile250Phe Multiple submitters hypertrophic cardiomyopathy
• p.Ile511Thr Multiple submitters hypertrophic cardiomyopathy 1
• p.Ile702Asn Multiple submitters cardiomyopathy
• p.Ile702Val Multiple submitters hypertrophic cardiomyopathy 1
• p.Ile730Thr Multiple submitters hypertrophic cardiomyopathy ⚠
• p.Leu1453Pro Multiple submitters hypertrophic cardiomyopathy
• p.Leu1793Pro Multiple submitters hypertrophic cardiomyopathy
• p.Lys1617del Multiple submitters MYH7-related disorder
• p.Lys351Glu Multiple submitters Cardiovascular phenotype
• p.Met493Val Multiple submitters MYH7-related disorder
• p.Met539Leu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
• p.Met539Val Multiple submitters MYH7-related disorder
• p.Phe247Cys Multiple submitters Cardiovascular phenotype
• p.Phe540Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Pro731Ser Multiple submitters hypertrophic cardiomyopathy 1
• p.Ser1924fs Multiple submitters hypertrophic cardiomyopathy
• p.Val320Met Multiple submitters Cardiovascular phenotype
• p.Val406Met Multiple submitters Cardiovascular phenotype
• p.Val411Ile Multiple submitters Cardiovascular phenotype
• p.Val698Met Multiple submitters Cardiovascular phenotype
• p.Arg1925Gly No assertion criteria

Likely pathogenic 185

• p.Arg1045Leu Expert panel hypertrophic cardiomyopathy
• p.Arg1193His Expert panel dilated cardiomyopathy
• p.Arg1420Trp Expert panel hypertrophic cardiomyopathy
• p.Arg143Gln Expert panel hypertrophic cardiomyopathy
• p.Arg369Gln Expert panel dilated cardiomyopathy
• p.Asp239Asn Expert panel hypertrophic cardiomyopathy ⚠
• p.Glu1801Lys Expert panel dilated cardiomyopathy
• p.Glu1914Lys Expert panel dilated cardiomyopathy
• p.Glu931del Expert panel hypertrophic cardiomyopathy
• p.Glu949Lys Expert panel hypertrophic cardiomyopathy
• p.Gly1057Ser Expert panel hypertrophic cardiomyopathy
• p.Ile457Thr Expert panel hypertrophic cardiomyopathy
• p.Pro710His Expert panel hypertrophic cardiomyopathy
• p.Tyr386Cys Expert panel hypertrophic cardiomyopathy
• p.Val338Met Expert panel hypertrophic cardiomyopathy
• p.Val440Met Expert panel hypertrophic cardiomyopathy
• c.3973-2A>C Multiple submitters dilated cardiomyopathy 1S
• p.1116EELE[3] Multiple submitters Inborn genetic diseases
• p.Ala199Glu Multiple submitters hypertrophic cardiomyopathy
• p.Ala199Thr Multiple submitters hypertrophic cardiomyopathy
• p.Ala200Val Multiple submitters hypertrophic cardiomyopathy
• p.Ala430Glu Multiple submitters MYH7-related disorder
• p.Ala649Val Multiple submitters MYH7-related disorder
• p.Arg143Gly Multiple submitters MYH7-related disorder
• p.Arg169Gly Multiple submitters Cardiovascular phenotype
• p.Arg1781Leu Multiple submitters hypertrophic cardiomyopathy 1
• p.Arg249Gly Multiple submitters Cardiovascular phenotype
• p.Arg249Leu Multiple submitters hypertrophic cardiomyopathy 1
• p.Arg904Leu Multiple submitters hypertrophic cardiomyopathy
• p.Asp928Val Multiple submitters Cardiovascular phenotype
• p.Asp953His Multiple submitters Cardiovascular phenotype
• p.Gln734Glu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
• p.Glu903Lys Multiple submitters Cardiovascular phenotype
• p.Gly407Val Multiple submitters MYH7-related disorder ⚠
• p.Gly584Cys Multiple submitters Cardiovascular phenotype
• p.Gly641Ser Multiple submitters hypertrophic cardiomyopathy 1
• p.Gly733Val Multiple submitters hypertrophic cardiomyopathy
• p.Ile913Thr Multiple submitters MYH7-related disorder
• p.Leu476Phe Multiple submitters hypertrophic cardiomyopathy 1
• p.Leu517Met Multiple submitters Cardiovascular phenotype
• p.Leu601Val Multiple submitters hypertrophic cardiomyopathy 1
• p.Leu915Pro Multiple submitters familial hypertrophic cardiomyopathy
• p.Lys351Thr Multiple submitters hypertrophic cardiomyopathy
• p.Lys657Gln Multiple submitters hypertrophic cardiomyopathy
• p.Met515Thr Multiple submitters Cardiovascular phenotype
• p.Met659Ile Multiple submitters Cardiovascular phenotype
• p.Phe247Leu Multiple submitters Cardiovascular phenotype
• p.Phe252Cys Multiple submitters hypertrophic cardiomyopathy 1
• p.Phe252Ser Multiple submitters MYH7-related disorder
• p.Pro731Thr Multiple submitters MYH7-related disorder
• p.Thr215Ile Multiple submitters dilated cardiomyopathy
• p.Thr660Asn Multiple submitters hypertrophic cardiomyopathy 1 ⚠
• p.Tyr609Cys Multiple submitters Cardiovascular phenotype
• c.3336+1G>C Single submitter
• c.4520-2del Single submitter hypertrophic cardiomyopathy
• c.5560-2A>C Single submitter congenital fiber-type disproportion myopathy
• c.5655+1G>A Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• c.5655+1G>C Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• c.5655+1G>T Single submitter hypertrophic cardiomyopathy
• p.Ala1379Ser Single submitter hypertrophic cardiomyopathy ⚠
• p.Ala1906Gly Single submitter dilated cardiomyopathy
• p.Ala199Ser Single submitter MYH7-related disorder
• p.Ala223Val Single submitter MYH7-related disorder ⚠
• p.Ala321Ser Single submitter hypertrophic cardiomyopathy 1 ⚠
• p.Ala355Ser Single submitter hypertrophic cardiomyopathy ⚠
• p.Ala934Val Single submitter hypertrophic cardiomyopathy 1 ⚠
• p.Arg1193Gly Single submitter hypertrophic cardiomyopathy
• p.Arg1193Leu Single submitter hypertrophic cardiomyopathy
• p.Arg1434Gly Single submitter hypertrophic cardiomyopathy
• p.Arg1434Pro Single submitter hypertrophic cardiomyopathy
• p.Arg169Ser Single submitter hypertrophic cardiomyopathy
• p.Arg272Gly Single submitter hypertrophic cardiomyopathy 1
• p.Arg281Gly Single submitter hypertrophic cardiomyopathy 1
• p.Arg403Gly Single submitter hypertrophic cardiomyopathy
• p.Arg442Leu Single submitter hypertrophic cardiomyopathy
• p.Arg671Pro Single submitter hypertrophic cardiomyopathy
• p.Arg712Gly Single submitter hypertrophic cardiomyopathy
• p.Arg904Gly Single submitter
• p.Arg904Ser Single submitter hypertrophic cardiomyopathy
• p.Arg925Gly Single submitter hypertrophic cardiomyopathy
• p.Asn1271_Thr1274del Single submitter
• p.Asn1365Asp Single submitter
• p.Asn224Ile Single submitter
• p.Asn416Lys Single submitter dilated cardiomyopathy 1S
• p.Asn602Lys Single submitter hypertrophic cardiomyopathy
• p.Asn696Tyr Single submitter hypertrophic cardiomyopathy
• p.Asp1208Gly Single submitter hypertrophic cardiomyopathy
• p.Asp382Asn Single submitter hypertrophic cardiomyopathy 1
• p.Asp461Asn Single submitter
• p.Asp554Tyr Single submitter
• p.Asp587His Single submitter hypertrophic cardiomyopathy
• p.Asp717Val Single submitter hypertrophic cardiomyopathy
• p.Asp896Asn Single submitter hypertrophic cardiomyopathy 1
• p.Asp928His Single submitter hypertrophic cardiomyopathy 1
• p.Cys520Phe Single submitter dilated cardiomyopathy 1S
• p.Cys705Tyr Single submitter dilated cardiomyopathy 1S
• p.Gln172Glu Single submitter dilated cardiomyopathy 1S
• p.Gln1788_Thr1789delinsHis Single submitter
• p.Gln734Pro Single submitter hypertrophic cardiomyopathy 1
• p.Glu1116Ter Single submitter cardiomyopathy
• p.Glu1496Lys Single submitter hypertrophic cardiomyopathy
• p.Glu1787Gln Single submitter
• p.Glu1887fs Single submitter
• p.Glu217Gln Single submitter
• p.Glu317Gly Single submitter hypertrophic cardiomyopathy
• p.Glu328del Single submitter
• p.Glu328Gly Single submitter hypertrophic cardiomyopathy 1
• p.Glu380Gly Single submitter hypertrophic cardiomyopathy ⚠
• p.Glu535Gln Single submitter MYH7-related disorder
• p.Glu537Ala Single submitter ⚠
• p.Glu924Gly Single submitter hypertrophic cardiomyopathy 1
• p.Gly398Arg Single submitter hypertrophic cardiomyopathy
• p.Gly407Arg Single submitter hypertrophic cardiomyopathy ⚠
• p.Gly407Cys Single submitter Cardiovascular phenotype
• p.Gly571Glu Single submitter hypertrophic cardiomyopathy
• p.Gly584Val Single submitter hypertrophic cardiomyopathy
• p.His1331Asp Single submitter
• p.Ile285Thr Single submitter dilated cardiomyopathy
• p.Ile457Lys Single submitter hypertrophic cardiomyopathy 1
• p.Ile511Leu Single submitter hypertrophic cardiomyopathy 1
• p.Ile524Met Single submitter hypertrophic cardiomyopathy
• p.Ile674Thr Single submitter hypertrophic cardiomyopathy 1
• p.Ile730Asn Single submitter hypertrophic cardiomyopathy
• p.Leu1038Arg Single submitter hypertrophic cardiomyopathy
• p.Leu1038Pro Single submitter hypertrophic cardiomyopathy
• p.Leu1055Met Single submitter ⚠
• p.Leu1301del Single submitter
• p.Leu1329fs Single submitter MYH7-related disorder
• p.Leu1805Pro Single submitter hypertrophic cardiomyopathy
• p.Leu1822Pro Single submitter MYH7-related disorder
• p.Leu267Val Single submitter hypertrophic cardiomyopathy
• p.Leu301Arg Single submitter hypertrophic cardiomyopathy
• p.Leu302Gln Single submitter
• p.Leu476His Single submitter myopathy, myosin storage, autosomal recessive
• p.Leu620Pro Single submitter
• p.Leu749Gln Single submitter cardiomyopathy
• p.Leu749Pro Single submitter
• p.Leu908Gln Single submitter hypertrophic cardiomyopathy
• p.Leu908Met Single submitter hypertrophic cardiomyopathy ⚠
• p.Lys146Asn Single submitter Cardiovascular phenotype
• p.Lys1879Arg Single submitter hypertrophic cardiomyopathy ⚠
• p.Lys351Asn Single submitter
• p.Lys549Glu Single submitter dilated cardiomyopathy 1S
• p.Lys615Thr Single submitter hypertrophic cardiomyopathy 1 ⚠
• p.Lys912Gln Single submitter
• p.Lys918Glu Single submitter
• p.Met165Ile Single submitter hypertrophic cardiomyopathy
• p.Met165Thr Single submitter hypertrophic cardiomyopathy
• p.Met439Arg Single submitter
• p.Met493Arg Single submitter hypertrophic cardiomyopathy
• p.Met539Thr Single submitter hypertrophic cardiomyopathy
• p.Phe155del Single submitter
• p.Phe252Tyr Single submitter hypertrophic cardiomyopathy
• p.Pro600Ser Single submitter dilated cardiomyopathy
• p.Pro710Ala Single submitter hypertrophic cardiomyopathy
• p.Pro710Leu Single submitter MYH7-related disorder
• p.Pro710Ser Single submitter hypertrophic cardiomyopathy
• p.Pro731Arg Single submitter congenital fiber-type disproportion myopathy
• p.Pro731Leu Single submitter hypertrophic cardiomyopathy
• p.Ser1199Arg Single submitter
• p.Ser148Arg Single submitter ⚠
• p.Ser148Ile Single submitter hypertrophic cardiomyopathy ⚠
• p.Ser1648fs Single submitter hypertrophic cardiomyopathy 1
• p.Ser1915Phe Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• p.Thr318Pro Single submitter hypertrophic cardiomyopathy
• p.Thr761Ile Single submitter hypertrophic cardiomyopathy 1
• p.Tyr117Cys Single submitter dilated cardiomyopathy 1S
• p.Tyr283Asp Single submitter Left ventricular noncompaction cardiomyopathy
• p.Tyr350Asn Single submitter Left ventricular noncompaction cardiomyopathy
• p.Tyr422Asp Single submitter hypertrophic cardiomyopathy ⚠
• p.Val320Glu Single submitter hypertrophic cardiomyopathy
• p.Val459Leu Single submitter hypertrophic cardiomyopathy
• p.Val698Leu Single submitter hypertrophic cardiomyopathy 1
• c.640-1G>A No assertion criteria familial cardiomyopathy
• c.640-2A>T No assertion criteria dilated cardiomyopathy 1S
• p.Ala423Thr No assertion criteria familial cardiomyopathy ⚠
• p.Asn696His No assertion criteria dilated cardiomyopathy 1S
• p.His666Gln No assertion criteria dilated cardiomyopathy 1S
• p.Ile285Phe No assertion criteria dilated cardiomyopathy 1S
• p.Leu620fs No assertion criteria dilated cardiomyopathy 1S
• p.Leu725Pro No assertion criteria familial cardiomyopathy
• p.Leu898Pro No assertion criteria hypertrophic cardiomyopathy 1
• p.Lys367Asn No assertion criteria familial cardiomyopathy
• p.Met528Lys No assertion criteria hypertrophic cardiomyopathy 1
• p.Ser392Leu No assertion criteria dilated cardiomyopathy

Conflicting classifications of pathogenicity 436

Showing the top 300 by review status; the full set is in the sitemap.

• c.1000-13G>T Single submitter MYH7-related skeletal myopathy
• c.1000-7C>T Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• c.1138+7G>A Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• c.1139-14C>T Single submitter cardiomyopathy
• c.1139-4C>T Single submitter Cardiovascular phenotype
• c.1408-6del Single submitter hypertrophic cardiomyopathy
• c.1408-8C>A Single submitter cardiomyopathy
• c.1888+8G>A Single submitter hypertrophic cardiomyopathy
• c.1888+8G>T Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• c.1957-15C>A Single submitter hypertrophic cardiomyopathy
• c.2045-5C>A Single submitter cardiomyopathy
• c.2045-5C>T Single submitter cardiomyopathy
• c.2162+1G>A Single submitter cardiomyopathy
• c.2163-8del Single submitter hypertrophic cardiomyopathy
• c.2922+3A>G Single submitter hypertrophic cardiomyopathy
• c.2922+6G>C Single submitter hypertrophic cardiomyopathy
• c.3100-2A>C Single submitter myopathy, myosin storage, autosomal recessive
• c.3100-3C>T Single submitter hypertrophic cardiomyopathy
• c.3100-5A>G Single submitter Cardiovascular phenotype
• c.3246-6C>G Single submitter cardiomyopathy
• c.3337-10G>A Single submitter cardiomyopathy
• c.3337-30_3337-18del Single submitter hypertrophic cardiomyopathy
• c.3337-5_3337-4insT Single submitter hypertrophic cardiomyopathy
• c.346-1G>A Single submitter hypertrophic cardiomyopathy
• c.346-4C>G Single submitter hypertrophic cardiomyopathy
• c.3726+6C>T Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• c.3727-5C>A Single submitter hypertrophic cardiomyopathy
• c.3727-6T>A Single submitter hypertrophic cardiomyopathy
• c.3854-14T>G Single submitter cardiomyopathy
• c.3854-5C>T Single submitter cardiomyopathy
• c.3972+62_3972+63insC Single submitter familial hypertrophic cardiomyopathy
• c.3973-8dup Single submitter cardiomyopathy
• c.4170-15C>A Single submitter cardiomyopathy
• c.4170-5G>A Single submitter cardiomyopathy
• c.4170-8C>A Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• c.4353+6C>T Single submitter cardiomyopathy
• c.4354-6G>A Single submitter cardiomyopathy
• c.4354-7C>G Single submitter cardiomyopathy
• c.4519+6C>T Single submitter MYH7-related skeletal myopathy
• c.4520-3C>T Single submitter Cardiovascular phenotype
• c.4522_4524del Single submitter MYH7-related disorder
• c.4644+3G>A Single submitter cardiomyopathy
• c.4953+5T>C Single submitter cardiomyopathy
• c.503-4A>G Single submitter hypertrophic cardiomyopathy
• c.503-5C>T Single submitter Cardiovascular phenotype
• c.503-8C>A Single submitter cardiomyopathy
• c.531-12C>G Single submitter hypertrophic cardiomyopathy
• c.531-14C>T Single submitter hypertrophic cardiomyopathy
• c.531-5C>T Single submitter Cardiovascular phenotype
• c.5559+3G>A Single submitter cardiomyopathy
• c.5559+4C>T Single submitter Cardiovascular phenotype
• c.5559+5G>A Single submitter MYH7-related skeletal myopathy
• c.5560-7C>A Single submitter hypertrophic cardiomyopathy
• c.5560-8G>A Single submitter cardiomyopathy
• c.5655+5G>A Single submitter dilated cardiomyopathy 1S
• c.5656-6C>A Single submitter cardiomyopathy
• c.5656-8dup Single submitter hypertrophic cardiomyopathy
• c.5656-8T>G Single submitter cardiomyopathy
• c.5790+9C>G Single submitter cardiomyopathy
• c.5791-10_5791-6dup Single submitter hypertrophic cardiomyopathy
• c.639+13C>T Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• c.639+5G>T Single submitter myopathy, myosin storage, autosomal recessive
• c.733-3C>T Single submitter Cardiovascular phenotype
• c.797-10C>A Single submitter hypertrophic cardiomyopathy
• c.797-3C>T Single submitter cardiomyopathy
• c.797-8G>C Single submitter cardiomyopathy
• c.895+12C>A Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• c.895+1G>A Single submitter MYH7-related disorder
• c.896-15T>C Single submitter hypertrophic cardiomyopathy
• c.896-3T>C Single submitter hypertrophic cardiomyopathy
• c.999+3G>A Single submitter Cardiovascular phenotype
• c.-62C>T Single submitter hypertrophic cardiomyopathy 1
• c.*105T>C Single submitter hypertrophic cardiomyopathy 1
• p.Ala1012Asp Single submitter Cardiovascular phenotype ⚠
• p.Ala1241Ser Single submitter congenital myopathy 7A, myosin storage, autosomal dominant ⚠
• p.Ala1263Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1325= Single submitter cardiomyopathy
• p.Ala1325Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1394= Single submitter Cardiovascular phenotype
• p.Ala1400Gly Single submitter Cardiovascular phenotype
• p.Ala1409= Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• p.Ala1487= Single submitter hypertrophic cardiomyopathy
• p.Ala1636= Single submitter Cardiovascular phenotype
• p.Ala1800Pro Single submitter hypertrophic cardiomyopathy ⚠
• p.Ala1800Val Single submitter ⚠
• p.Ala1804Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala1834Ser Single submitter Cardiovascular phenotype ⚠
• p.Ala1834Thr Single submitter congenital myopathy 7A, myosin storage, autosomal dominant ⚠
• p.Ala1885= Single submitter myopathy, myosin storage, autosomal recessive
• p.Ala226Thr Single submitter hypertrophic cardiomyopathy ⚠
• p.Ala226Val Single submitter Cardiovascular phenotype
• p.Ala229Val Single submitter Cardiovascular phenotype ⚠
• p.Ala259Glu Single submitter hypertrophic cardiomyopathy ⚠
• p.Ala326Pro Single submitter Cardiovascular phenotype ⚠
• p.Ala335Pro Single submitter hypertrophic cardiomyopathy ⚠
• p.Ala373Val Single submitter Cardiovascular phenotype ⚠
• p.Ala381Asp Single submitter Cardiovascular phenotype ⚠
• p.Ala393= Single submitter hypertrophic cardiomyopathy 1
• p.Ala393Pro Single submitter hypertrophic cardiomyopathy ⚠
• p.Ala428Val Single submitter Cardiovascular phenotype ⚠
• p.Ala583Val Single submitter Cardiovascular phenotype ⚠
• p.Ala629= Single submitter cardiomyopathy
• p.Ala728Val Single submitter Cardiovascular phenotype ⚠
• p.Ala899Glu Single submitter hypertrophic cardiomyopathy ⚠
• p.Ala970Thr Single submitter cardiomyopathy
• p.Arg1045His Single submitter cardiomyopathy ⚠
• p.Arg1045Ser Single submitter hypertrophic cardiomyopathy 1 ⚠
• p.Arg1053Trp Single submitter MYH7-related disorder ⚠
• p.Arg1079Trp Single submitter MYH7-related skeletal myopathy
• p.Arg1193Ser Single submitter Cardiovascular phenotype ⚠
• p.Arg1212Trp Single submitter dilated cardiomyopathy 1S ⚠
• p.Arg1250Gly Single submitter hypertrophic cardiomyopathy 1 ⚠
• p.Arg1250Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg1268His Single submitter Cardiovascular phenotype ⚠
• p.Arg1303Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1337Gln Single submitter congenital myopathy 7A, myosin storage, autosomal dominant ⚠
• p.Arg1344Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1359Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg1359His Single submitter Cardiovascular phenotype ⚠
• p.Arg1359Ser Single submitter myopathy ⚠
• p.Arg1382Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1382Trp Single submitter MYH7-related disorder ⚠
• p.Arg1396Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1396Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg1434Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg1434His Single submitter Cardiovascular phenotype ⚠
• p.Arg143Leu Single submitter hypertrophic cardiomyopathy ⚠
• p.Arg143Pro Single submitter hypertrophic cardiomyopathy 1 ⚠
• p.Arg1475His Single submitter MYH7-related disorder ⚠
• p.Arg1560Gln Single submitter hypertrophic cardiomyopathy 1 ⚠
• p.Arg1560Trp Single submitter cardiomyopathy ⚠
• p.Arg169Lys Single submitter hypertrophic cardiomyopathy ⚠
• p.Arg1820Gln Single submitter hypertrophic cardiomyopathy 1 ⚠
• p.Arg1832His Single submitter Cardiovascular phenotype ⚠
• p.Arg1845Trp Single submitter hyaline body myopathy ⚠
• p.Arg1846His Single submitter Cardiovascular phenotype ⚠
• p.Arg1897His Single submitter Cardiovascular phenotype ⚠
• p.Arg1909Gln Single submitter congenital myopathy 7A, myosin storage, autosomal dominant ⚠
• p.Arg1921Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1921Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg1925Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg204Leu Single submitter cardiomyopathy ⚠
• p.Arg237Gln Single submitter MYH7-related disorder ⚠
• p.Arg237Trp Single submitter MYH7-related disorder ⚠
• p.Arg243Cys Single submitter MYH7-related disorder ⚠
• p.Arg249Ter Single submitter congenital fiber-type disproportion myopathy
• p.Arg272Thr Single submitter hypertrophic cardiomyopathy 1 ⚠
• p.Arg369Trp Single submitter cardiomyopathy ⚠
• p.Arg434Lys Single submitter Cardiovascular phenotype ⚠
• p.Arg442His Single submitter Cardiovascular phenotype ⚠
• p.Arg453Leu Single submitter Cardiovascular phenotype ⚠
• p.Arg54Ter Single submitter cardiomyopathy
• p.Arg567Cys Single submitter cardiomyopathy ⚠
• p.Arg652Ser Single submitter hypertrophic cardiomyopathy ⚠
• p.Arg671His Single submitter Cardiovascular phenotype ⚠
• p.Arg712Cys Single submitter cardiomyopathy ⚠
• p.Arg712His Single submitter MYH7-related disorder ⚠
• p.Arg712Leu Single submitter Cardiovascular phenotype ⚠
• p.Arg719Pro Single submitter hypertrophic cardiomyopathy 1 ⚠
• p.Arg721Ser Single submitter MYH7-related disorder ⚠
• p.Arg723His Single submitter Cardiovascular phenotype ⚠
• p.Arg807His Single submitter dilated cardiomyopathy 1S ⚠
• p.Arg941Cys Single submitter cardiomyopathy ⚠
• p.Asn1088Ser Single submitter cardiomyopathy ⚠
• p.Asn1209Lys Single submitter hypertrophic cardiomyopathy ⚠
• p.Asn1284= Single submitter cardiomyopathy
• p.Asn1502= Single submitter hypertrophic cardiomyopathy
• p.Asn1664= Single submitter hypertrophic cardiomyopathy
• p.Asn1833= Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• p.Asn238= Single submitter Cardiovascular phenotype
• p.Asn391Tyr Single submitter Cardiovascular phenotype ⚠
• p.Asn437Lys Single submitter dilated cardiomyopathy 1S ⚠
• p.Asn490Ser Single submitter hypertrophic cardiomyopathy 1 ⚠
• p.Asn555Ser Single submitter MYH7-related disorder ⚠
• p.Asn661= Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• p.Asn661His Single submitter MYH7-related disorder ⚠
• p.Asn676= Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• p.Asn80= Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• p.Asp1058Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp1198Tyr Single submitter cardiomyopathy ⚠
• p.Asp1208Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp1230= Single submitter hypertrophic cardiomyopathy 1
• p.Asp1272Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp1314Glu Single submitter Cardiovascular phenotype
• p.Asp1378= Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• p.Asp1431= Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• p.Asp1450Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp1652Tyr Single submitter MYH7-related skeletal myopathy ⚠
• p.Asp1798= Single submitter Cardiovascular phenotype
• p.Asp1869Gly Single submitter congenital myopathy 7A, myosin storage, autosomal dominant ⚠
• p.Asp218Tyr Single submitter Cardiovascular phenotype ⚠
• p.Asp239Ala Single submitter hypertrophic cardiomyopathy ⚠
• p.Asp282Tyr Single submitter hypertrophic cardiomyopathy ⚠
• p.Asp309Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp376Glu Single submitter Cardiovascular phenotype
• p.Asp382Tyr Single submitter Cardiovascular phenotype ⚠
• p.Asp394Asn Single submitter cardiomyopathy ⚠
• p.Asp42Asn Single submitter myopathy, myosin storage, autosomal recessive ⚠
• p.Asp469= Single submitter Cardiovascular phenotype
• p.Asp469Tyr Single submitter MYH7-related disorder ⚠
• p.Asp516Glu Single submitter Cardiovascular phenotype ⚠
• p.Asp545Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp599Tyr Single submitter hypertrophic cardiomyopathy 1 ⚠
• p.Asp628= Single submitter cardiomyopathy
• p.Asp717Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp900Ala Single submitter hypertrophic cardiomyopathy 1 ⚠
• p.Asp900Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp900Val Single submitter Cardiovascular phenotype ⚠
• p.Asp906Asn Single submitter hypertrophic cardiomyopathy
• p.Asp953Val Single submitter Cardiovascular phenotype ⚠
• p.Asp955Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp956= Single submitter Cardiovascular phenotype
• p.Cys905Phe Single submitter cardiomyopathy ⚠
• p.Cys905Tyr Single submitter Cardiovascular phenotype ⚠
• p.Gln1030His Single submitter Cardiovascular phenotype
• p.Gln1184Leu Single submitter Cardiovascular phenotype ⚠
• p.Gln1215His Single submitter Cardiovascular phenotype ⚠
• p.Gln1267His Single submitter Cardiovascular phenotype ⚠
• p.Gln1346Glu Single submitter Cardiovascular phenotype ⚠
• p.Gln163Pro Single submitter hypertrophic cardiomyopathy ⚠
• p.Gln1794Glu Single submitter cardiomyopathy ⚠
• p.Gln1794Lys Single submitter MYH7-related disorder ⚠
• p.Gln1916Ter Single submitter dilated cardiomyopathy
• p.Gln219Glu Single submitter Cardiovascular phenotype ⚠
• p.Gln475Lys Single submitter MYH7-related disorder ⚠
• p.Gln720His Single submitter hypertrophic cardiomyopathy ⚠
• p.Gln734Leu Single submitter hypertrophic cardiomyopathy ⚠
• p.Gln75= Single submitter cardiomyopathy
• p.Glu1039Gly Single submitter cardiomyopathy ⚠
• p.Glu1049= Single submitter cardiomyopathy
• p.Glu1056Asp Single submitter hypertrophic cardiomyopathy 1 ⚠
• p.Glu1116Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu1117Ter Single submitter cardiomyopathy
• p.Glu1120Lys Single submitter cardiomyopathy ⚠
• p.Glu1123Gln Single submitter cardiomyopathy ⚠
• p.Glu1186= Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• p.Glu1205Gln Single submitter cardiomyopathy ⚠
• p.Glu1205Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu1223Lys Single submitter MYH7-related disorder ⚠
• p.Glu1320= Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• p.Glu1376Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu1387Lys Single submitter congenital myopathy 7A, myosin storage, autosomal dominant ⚠
• p.Glu1399Asp Single submitter Cardiovascular phenotype ⚠
• p.Glu1468= Single submitter hypertrophic cardiomyopathy
• p.Glu1468Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu1468Ter Single submitter cardiomyopathy
• p.Glu1490Asp Single submitter ⚠
• p.Glu1496Ala Single submitter congenital myopathy 7A, myosin storage, autosomal dominant ⚠
• p.Glu149Lys Single submitter hypertrophic cardiomyopathy ⚠
• p.Glu1548Ala Single submitter hypertrophic cardiomyopathy ⚠
• p.Glu1610Gln Single submitter Cardiovascular phenotype ⚠
• p.Glu1624= Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• p.Glu1914Asp Single submitter hypertrophic cardiomyopathy ⚠
• p.Glu379Lys Single submitter MYH7-related disorder ⚠
• p.Glu466Gln Single submitter Cardiovascular phenotype ⚠
• p.Glu500Ala Single submitter Cardiovascular phenotype ⚠
• p.Glu535Lys Single submitter hypertrophic cardiomyopathy ⚠
• p.Glu536Asp Single submitter hypertrophic cardiomyopathy ⚠
• p.Glu700Gly Single submitter MYH7-related disorder ⚠
• p.Glu861Lys Single submitter dilated cardiomyopathy 1S ⚠
• p.Glu894Lys Single submitter MYH7-related disorder ⚠
• p.Glu903Gly Single submitter hypertrophic cardiomyopathy ⚠
• p.Glu921Ala Single submitter cardiomyopathy ⚠
• p.Glu921del Single submitter hypertrophic cardiomyopathy
• p.Glu927Ter Single submitter Cardiovascular phenotype
• p.Glu929Lys Single submitter hypertrophic cardiomyopathy ⚠
• p.Glu931Gly Single submitter Cardiovascular phenotype ⚠
• p.Glu965Lys Single submitter MYH7-related disorder ⚠
• p.Gly1057Asp Single submitter MYH7-related disorder ⚠
• p.Gly10Arg Single submitter congenital myopathy 7A, myosin storage, autosomal dominant ⚠
• p.Gly1204= Single submitter Cardiovascular phenotype
• p.Gly144Asp Single submitter Cardiovascular phenotype ⚠
• p.Gly178Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly181Arg Single submitter dilated cardiomyopathy ⚠
• p.Gly1931= Single submitter congenital myopathy 7A, myosin storage, autosomal dominant
• p.Gly253Glu Single submitter MYH7-related disorder ⚠
• p.Gly354Asp Single submitter Cardiovascular phenotype ⚠
• p.Gly389Glu Single submitter Cardiovascular phenotype ⚠
• p.Gly425Arg Single submitter MYH7-related disorder ⚠
• p.Gly571Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly584Asp Single submitter cardiomyopathy ⚠
• p.Gly634= Single submitter hypertrophic cardiomyopathy
• p.Gly716Glu Single submitter hypertrophic cardiomyopathy ⚠
• p.Gly716Trp Single submitter Cardiovascular phenotype ⚠
• p.Gly733Glu Single submitter hypertrophic cardiomyopathy ⚠
• p.His1524Arg Single submitter Cardiovascular phenotype ⚠
• p.His492= Single submitter cardiomyopathy
• p.His651Pro Single submitter cardiomyopathy ⚠
• p.Ile1207= Single submitter Cardiovascular phenotype
• p.Ile1207Met Single submitter Cardiovascular phenotype ⚠
• p.Ile1509Leu Single submitter congenital myopathy 7A, myosin storage, autosomal dominant ⚠
• p.Ile1803= Single submitter cardiomyopathy
• p.Ile1927Phe Single submitter hypertrophic cardiomyopathy ⚠
• p.Ile263Leu Single submitter cardiomyopathy ⚠
• p.Ile263Met Single submitter cardiomyopathy ⚠
• p.Ile323Asn Single submitter ⚠
• p.Ile467Thr Single submitter hypertrophic cardiomyopathy 1 ⚠
• p.Ile478Val Single submitter MYH7-related disorder ⚠
• p.Ile524Thr Single submitter hypertrophic cardiomyopathy ⚠
• p.Ile530Val Single submitter Cardiovascular phenotype ⚠

Benign 126

• c.2162+4G>A Expert panel hypertrophic cardiomyopathy
• c.3337-4dup Expert panel hypertrophic cardiomyopathy
• c.3853+7C>T Expert panel hypertrophic cardiomyopathy
• p.Ala1012= Expert panel hypertrophic cardiomyopathy
• p.Ala1051= Expert panel hypertrophic cardiomyopathy
• p.Ala199= Expert panel hypertrophic cardiomyopathy
• p.Ala26Val Expert panel hypertrophic cardiomyopathy ⚠
• p.Ala373= Expert panel hypertrophic cardiomyopathy
• p.Asn1257Ser Expert panel hypertrophic cardiomyopathy
• p.Asn160= Expert panel hypertrophic cardiomyopathy
• p.Asn334= Expert panel hypertrophic cardiomyopathy
• p.Asn589= Expert panel hypertrophic cardiomyopathy
• p.Asn923= Expert panel hypertrophic cardiomyopathy
• p.Asp325= Expert panel hypertrophic cardiomyopathy
• p.Asp376= Expert panel hypertrophic cardiomyopathy
• p.Glu1117= Expert panel hypertrophic cardiomyopathy
• p.Glu535= Expert panel hypertrophic cardiomyopathy
• p.His1259= Expert panel hypertrophic cardiomyopathy
• p.His969= Expert panel hypertrophic cardiomyopathy
• p.Ile1912= Expert panel hypertrophic cardiomyopathy
• p.Ile87= Expert panel hypertrophic cardiomyopathy
• p.Ile989= Expert panel hypertrophic cardiomyopathy
• p.Leu1484= Expert panel hypertrophic cardiomyopathy
• p.Lys1052= Expert panel hypertrophic cardiomyopathy
• p.Lys365= Expert panel hypertrophic cardiomyopathy
• p.Met982Thr Expert panel hypertrophic cardiomyopathy
• p.Phe244= Expert panel hypertrophic cardiomyopathy
• p.Phe465= Expert panel hypertrophic cardiomyopathy
• p.Pro99= Expert panel hypertrophic cardiomyopathy
• p.Ser1288= Expert panel hypertrophic cardiomyopathy
• p.Ser1491Cys Expert panel hypertrophic cardiomyopathy ⚠
• p.Thr1522= Expert panel hypertrophic cardiomyopathy
• p.Thr441Met Expert panel hypertrophic cardiomyopathy
• p.Tyr109= Expert panel hypertrophic cardiomyopathy
• p.Tyr310= Expert panel hypertrophic cardiomyopathy
• c.1408-117C>T Multiple submitters
• c.201+121T>C Multiple submitters
• c.2045-189G>T Multiple submitters
• c.2163-56A>G Multiple submitters
• c.2680-95C>T Multiple submitters
• c.2922+82C>T Multiple submitters
• c.2923-18G>A Multiple submitters hypertrophic cardiomyopathy
• c.3853+27T>A Multiple submitters
• c.3973-250C>T Multiple submitters
• c.3973-30A>G Multiple submitters
• c.3973-75G>A Multiple submitters
• c.4353+17G>A Multiple submitters hypertrophic cardiomyopathy
• c.4353+42G>A Multiple submitters
• c.4520-63G>A Multiple submitters hypertrophic cardiomyopathy
• c.4644+80C>T Multiple submitters
• c.530+106C>G Multiple submitters
• c.530+107C>A Multiple submitters
• c.531-174C>T Multiple submitters
• c.5559+67A>T Multiple submitters
• c.5560-93G>C Multiple submitters
• c.5655+32G>A Multiple submitters
• c.5791-106A>C Multiple submitters
• c.5791-64A>G Multiple submitters
• c.895+17G>A Multiple submitters Cardiovascular phenotype
• c.999+44T>C Multiple submitters
• c.-8-25G>T Multiple submitters
• c.-9+23T>C Multiple submitters congenital myopathy 7A, myosin storage, autosomal dominant
• c.1000-38C>A Single submitter
• c.1138+98_1138+99del Single submitter
• c.1138+99del Single submitter
• c.1407+135T>A Single submitter
• c.1407+42C>G Single submitter
• c.1407+43G>A Single submitter
• c.1578+202A>G Single submitter
• c.1578+243C>T Single submitter
• c.1889-38C>T Single submitter
• c.1956+51A>C Single submitter
• c.201+144A>C Single submitter
• c.201+147G>C Single submitter
• c.201+149G>T Single submitter
• c.2045-20C>A Single submitter hypertrophic cardiomyopathy
• c.3099+175A>G Single submitter
• c.3099+61GT[20] Single submitter
• c.3099+61GT[21] Single submitter
• c.3099+61GT[22] Single submitter
• c.3099+61GT[23] Single submitter
• c.3099+61GT[24] Single submitter
• c.3099+61GT[26] Single submitter
• c.3100-269AAAG[6] Single submitter
• c.3100-274_3100-262del Single submitter
• c.3100-308del Single submitter
• c.3245+124T>C Single submitter
• c.3337-3del Single submitter
• c.3337-5del Single submitter
• c.346-36G>A Single submitter
• c.3726+43del Single submitter
• c.3854-31G>C Single submitter
• c.3854-3del Single submitter hypertrophic cardiomyopathy
• c.3972+203G>A Single submitter
• c.3973-249G>A Single submitter
• c.4169+257G>A Single submitter
• c.4353+13T>G Single submitter
• c.4353+18del Single submitter hypertrophic cardiomyopathy
• c.4353+9T>G Single submitter
• c.4354-7del Single submitter hypertrophic cardiomyopathy
• c.4520-38C>G Single submitter
• c.4520-42A>T Single submitter
• c.4644+190C>T Single submitter
• c.4644+1del Single submitter
• c.4644+2del Single submitter
• c.4644+57C>G Single submitter
• c.4645-173C>T Single submitter
• c.4645-196C>T Single submitter
• c.530+139A>G Single submitter
• c.531-27C>A Single submitter
• c.5560-288C>T Single submitter
• c.5790+113T>C Single submitter
• c.5790+190_5790+192del Single submitter
• c.5790+191_5790+192del Single submitter
• c.5791-222G>A Single submitter
• c.639+32G>A Single submitter
• c.896-4dup Single submitter hypertrophic cardiomyopathy
• c.896-98C>T Single submitter
• c.-60C>T Single submitter
• c.-69C>G Single submitter
• p.Ala259= Single submitter
• p.Gly1808= Single submitter
• p.Leu258= Single submitter
• p.Thr255= Single submitter
• p.Thr63= Single submitter
• p.Gln1105= No assertion criteria hypertrophic cardiomyopathy

Benign/Likely benign 70

• c.1408-42del Multiple submitters
• c.1579-17C>T Multiple submitters Cardiovascular phenotype
• c.1579-47C>T Multiple submitters
• c.2045-11T>G Multiple submitters hypertrophic cardiomyopathy
• c.2163-16A>T Multiple submitters hypertrophic cardiomyopathy
• c.2923-6C>T Multiple submitters cardiomyopathy
• c.3727-18C>T Multiple submitters hypertrophic cardiomyopathy
• c.3853+14A>T Multiple submitters hypertrophic cardiomyopathy
• c.3853+21C>T Multiple submitters
• c.3972+15C>T Multiple submitters congenital myopathy 7A, myosin storage, autosomal dominant
• c.3972+16G>A Multiple submitters congenital myopathy 7A, myosin storage, autosomal dominant
• c.3973-12A>C Multiple submitters hypertrophic cardiomyopathy
• c.4353+10G>A Multiple submitters hypertrophic cardiomyopathy
• c.4353+20C>T Multiple submitters congenital fiber-type disproportion myopathy
• c.4519+9G>C Multiple submitters hypertrophic cardiomyopathy
• c.4520-15G>A Multiple submitters cardiomyopathy
• c.4520-25C>T Multiple submitters hypertrophic cardiomyopathy 1
• c.4644+24G>T Multiple submitters cardiomyopathy
• c.5283+19C>T Multiple submitters MYH7-related skeletal myopathy
• c.5560-12T>G Multiple submitters cardiomyopathy
• c.5560-7dup Multiple submitters Cardiovascular phenotype
• c.5656-4G>A Multiple submitters Cardiovascular phenotype
• c.5790+15T>G Multiple submitters hypertrophic cardiomyopathy
• c.797-17T>C Multiple submitters hypertrophic cardiomyopathy
• c.797-19_797-17del Multiple submitters hypertrophic cardiomyopathy
• c.896-17C>T Multiple submitters hypertrophic cardiomyopathy
• c.896-8del Multiple submitters cardiomyopathy
• c.-36C>T Multiple submitters congenital myopathy 7A, myosin storage, autosomal dominant
• c.*113G>A Multiple submitters hypertrophic cardiomyopathy 1
• c.*20G>A Multiple submitters hypertrophic cardiomyopathy 1
• p.Ala1547= Multiple submitters hypertrophic cardiomyopathy
• p.Ala1702= Multiple submitters Cardiovascular phenotype
• p.Ala1800= Multiple submitters Cardiovascular phenotype
• p.Ala1828= Multiple submitters cardiomyopathy
• p.Ala1882= Multiple submitters Cardiovascular phenotype
• p.Ala728= Multiple submitters Cardiovascular phenotype
• p.Arg1268= Multiple submitters Cardiovascular phenotype
• p.Arg1500= Multiple submitters Cardiovascular phenotype
• p.Arg1858= Multiple submitters Cardiovascular phenotype
• p.Arg1909= Multiple submitters Cardiovascular phenotype
• p.Asn1271= Multiple submitters cardiomyopathy
• p.Asn1609= Multiple submitters Cardiovascular phenotype
• p.Asn361= Multiple submitters Cardiovascular phenotype
• p.Asp1015= Multiple submitters Cardiovascular phenotype
• p.Asp1314= Multiple submitters MYH7-related skeletal myopathy
• p.Asp953= Multiple submitters Cardiovascular phenotype
• p.Glu1787= Multiple submitters Cardiovascular phenotype
• p.Glu1827= Multiple submitters Cardiovascular phenotype
• p.Glu1887= Multiple submitters Cardiovascular phenotype
• p.Gly697= Multiple submitters Cardiovascular phenotype
• p.His1331= Multiple submitters Cardiovascular phenotype
• p.Ile51= Multiple submitters cardiomyopathy
• p.Ile954= Multiple submitters Cardiovascular phenotype
• p.Leu1228= Multiple submitters Cardiovascular phenotype
• p.Leu1386= Multiple submitters cardiomyopathy
• p.Leu1540= Multiple submitters Cardiovascular phenotype
• p.Lys1134= Multiple submitters cardiomyopathy
• p.Phe494= Multiple submitters Cardiovascular phenotype
• p.Pro211= Multiple submitters Cardiovascular phenotype
• p.Ser1413= Multiple submitters congenital myopathy 7A, myosin storage, autosomal dominant
• p.Ser158= Multiple submitters Cardiovascular phenotype
• p.Ser4= Multiple submitters Cardiovascular phenotype
• p.Ser748= Multiple submitters hypertrophic cardiomyopathy
• p.Thr1188= Multiple submitters Cardiovascular phenotype
• p.Thr28= Multiple submitters cardiomyopathy
• p.Thr319= Multiple submitters Cardiovascular phenotype
• p.Thr441= Multiple submitters Cardiovascular phenotype
• p.Tyr410= Multiple submitters Cardiovascular phenotype
• c.345+24G>A No assertion criteria
• p.Tyr350= No assertion criteria

Likely benign 1282

Showing the top 300 by review status; the full set is in the sitemap.

• p.Ala1128Thr Expert panel hypertrophic cardiomyopathy ⚠
• p.Asn1327Lys Expert panel hypertrophic cardiomyopathy
• p.Asp1096Tyr Expert panel hypertrophic cardiomyopathy
• p.Glu1902Gln Expert panel hypertrophic cardiomyopathy
• p.Lys1459Asn Expert panel hypertrophic cardiomyopathy
• c.1000-11C>T Multiple submitters hypertrophic cardiomyopathy
• c.1139-11T>C Multiple submitters cardiomyopathy
• c.1139-13C>G Multiple submitters hypertrophic cardiomyopathy
• c.1139-13C>T Multiple submitters cardiomyopathy
• c.1139-4C>G Multiple submitters hypertrophic cardiomyopathy
• c.1257+17A>G Multiple submitters hypertrophic cardiomyopathy
• c.1257+7C>A Multiple submitters dilated cardiomyopathy 1S
• c.1258-9A>T Multiple submitters cardiomyopathy
• c.1408-19C>A Multiple submitters hypertrophic cardiomyopathy
• c.1408-8C>T Multiple submitters cardiomyopathy
• c.1578+20A>T Multiple submitters hypertrophic cardiomyopathy
• c.1579-4T>C Multiple submitters Cardiovascular phenotype
• c.1579-9C>T Multiple submitters cardiomyopathy
• c.1888+13T>G Multiple submitters hypertrophic cardiomyopathy
• c.1889-11C>T Multiple submitters cardiomyopathy
• c.1956+20A>C Multiple submitters hypertrophic cardiomyopathy
• c.1957-16G>A Multiple submitters hypertrophic cardiomyopathy
• c.1957-18T>C Multiple submitters hypertrophic cardiomyopathy
• c.1957-7G>A Multiple submitters cardiomyopathy
• c.201+13C>T Multiple submitters hypertrophic cardiomyopathy
• c.201+16A>G Multiple submitters hypertrophic cardiomyopathy
• c.202-9del Multiple submitters cardiomyopathy
• c.2044+10C>T Multiple submitters hypertrophic cardiomyopathy
• c.2044+18G>A Multiple submitters hypertrophic cardiomyopathy
• c.2044+39A>T Multiple submitters
• c.2045-14C>T Multiple submitters cardiomyopathy
• c.2045-4A>G Multiple submitters cardiomyopathy
• c.2162+17A>C Multiple submitters hypertrophic cardiomyopathy
• c.2162+9G>A Multiple submitters hypertrophic cardiomyopathy
• c.2163-10C>T Multiple submitters hypertrophic cardiomyopathy
• c.2163-14A>G Multiple submitters cardiomyopathy
• c.2163-9C>A Multiple submitters hypertrophic cardiomyopathy
• c.2286+7A>G Multiple submitters hypertrophic cardiomyopathy
• c.2680-11C>T Multiple submitters cardiomyopathy
• c.2680-12C>T Multiple submitters hypertrophic cardiomyopathy
• c.2680-57C>G Multiple submitters
• c.2922+9A>G Multiple submitters hypertrophic cardiomyopathy
• c.2923-4G>A Multiple submitters cardiomyopathy
• c.3100-102G>A Multiple submitters
• c.3100-11C>T Multiple submitters cardiomyopathy
• c.3100-11CT[4] Multiple submitters cardiomyopathy
• c.3100-15C>T Multiple submitters cardiomyopathy
• c.3100-32C>T Multiple submitters
• c.3100-6T>C Multiple submitters cardiomyopathy
• c.3245+20C>T Multiple submitters hypertrophic cardiomyopathy
• c.3246-17T>A Multiple submitters hypertrophic cardiomyopathy
• c.3336+10G>A Multiple submitters hypertrophic cardiomyopathy
• c.3336+18A>T Multiple submitters hypertrophic cardiomyopathy
• c.3336+20G>A Multiple submitters hypertrophic cardiomyopathy
• c.3337-10G>C Multiple submitters cardiomyopathy
• c.3337-91C>T Multiple submitters
• c.3337-9T>G Multiple submitters cardiomyopathy
• c.346-17T>C Multiple submitters hypertrophic cardiomyopathy
• c.346-5C>T Multiple submitters cardiomyopathy
• c.346-6C>G Multiple submitters cardiomyopathy
• c.3726+17C>T Multiple submitters hypertrophic cardiomyopathy
• c.3727-15T>A Multiple submitters hypertrophic cardiomyopathy
• c.3727-5C>T Multiple submitters hypertrophic cardiomyopathy
• c.3727-8C>T Multiple submitters hypertrophic cardiomyopathy
• c.3853+87C>T Multiple submitters
• c.3854-10G>A Multiple submitters cardiomyopathy
• c.3854-11T>C Multiple submitters cardiomyopathy
• c.3854-12G>A Multiple submitters cardiomyopathy
• c.3973-12_3973-11del Multiple submitters cardiomyopathy
• c.4170-19G>T Multiple submitters hypertrophic cardiomyopathy
• c.4170-239C>A Multiple submitters
• c.4353+3G>T Multiple submitters cardiomyopathy
• c.4353+8C>A Multiple submitters hypertrophic cardiomyopathy
• c.4354-10C>T Multiple submitters cardiomyopathy
• c.4354-15C>T Multiple submitters hypertrophic cardiomyopathy
• c.4520-11T>C Multiple submitters cardiomyopathy
• c.4520-12T>C Multiple submitters hypertrophic cardiomyopathy
• c.4520-16C>T Multiple submitters hypertrophic cardiomyopathy
• c.4644+2TG[7] Multiple submitters hypertrophic cardiomyopathy
• c.4644+7G>C Multiple submitters hypertrophic cardiomyopathy
• c.4645-17C>T Multiple submitters hypertrophic cardiomyopathy
• c.502+18G>A Multiple submitters hypertrophic cardiomyopathy
• c.502+6A>G Multiple submitters cardiomyopathy
• c.503-9T>C Multiple submitters cardiomyopathy
• c.5158-10C>T Multiple submitters cardiomyopathy
• c.530+9A>T Multiple submitters cardiomyopathy
• c.531-15C>A Multiple submitters cardiomyopathy
• c.5559+11C>T Multiple submitters hypertrophic cardiomyopathy
• c.5559+7C>T Multiple submitters hypertrophic cardiomyopathy
• c.5559+8G>A Multiple submitters hypertrophic cardiomyopathy
• c.5559+9G>A Multiple submitters hypertrophic cardiomyopathy
• c.5560-14C>A Multiple submitters cardiomyopathy
• c.5560-4C>G Multiple submitters Cardiovascular phenotype
• c.5560-5C>T Multiple submitters hypertrophic cardiomyopathy
• c.5560-6C>T Multiple submitters cardiomyopathy
• c.5560-7C>T Multiple submitters cardiomyopathy
• c.5655+21C>T Multiple submitters
• c.5655+9C>A Multiple submitters hypertrophic cardiomyopathy
• c.5656-10C>T Multiple submitters cardiomyopathy
• c.5656-18T>A Multiple submitters hypertrophic cardiomyopathy
• c.5656-4G>C Multiple submitters cardiomyopathy
• c.5656-5C>T Multiple submitters Cardiovascular phenotype
• c.5656-9C>T Multiple submitters dilated cardiomyopathy 1S
• c.5790+10T>C Multiple submitters hypertrophic cardiomyopathy
• c.5790+14T>A Multiple submitters hypertrophic cardiomyopathy
• c.5790+9C>T Multiple submitters hypertrophic cardiomyopathy
• c.5791-162A>C Multiple submitters
• c.5791-5A>T Multiple submitters cardiomyopathy
• c.639+20A>G Multiple submitters hypertrophic cardiomyopathy
• c.639+31C>T Multiple submitters
• c.639+9G>A Multiple submitters hypertrophic cardiomyopathy
• c.640-18C>T Multiple submitters hypertrophic cardiomyopathy
• c.640-7T>C Multiple submitters cardiomyopathy
• c.733-10A>G Multiple submitters hypertrophic cardiomyopathy
• c.733-11C>T Multiple submitters hypertrophic cardiomyopathy
• c.733-14T>C Multiple submitters cardiomyopathy
• c.733-19C>T Multiple submitters hypertrophic cardiomyopathy
• c.733-8C>T Multiple submitters hypertrophic cardiomyopathy
• c.733-9T>C Multiple submitters cardiomyopathy
• c.796+7G>A Multiple submitters cardiomyopathy
• c.797-10C>T Multiple submitters cardiomyopathy
• c.797-13C>G Multiple submitters hypertrophic cardiomyopathy
• c.797-4A>G Multiple submitters hypertrophic cardiomyopathy
• c.797-8G>A Multiple submitters hypertrophic cardiomyopathy
• c.797-8G>T Multiple submitters hypertrophic cardiomyopathy
• c.797-9T>G Multiple submitters cardiomyopathy
• c.895+12C>G Multiple submitters hypertrophic cardiomyopathy
• c.895+12C>T Multiple submitters hypertrophic cardiomyopathy 1
• c.895+28A>C Multiple submitters
• c.896-4C>T Multiple submitters cardiomyopathy
• c.896-5C>G Multiple submitters cardiomyopathy
• c.999+9G>A Multiple submitters hypertrophic cardiomyopathy
• p.Ala1002= Multiple submitters hypertrophic cardiomyopathy
• p.Ala1006= Multiple submitters Cardiovascular phenotype
• p.Ala1089= Multiple submitters cardiomyopathy
• p.Ala1153= Multiple submitters cardiomyopathy
• p.Ala1169= Multiple submitters hypertrophic cardiomyopathy
• p.Ala1189= Multiple submitters cardiomyopathy
• p.Ala1190= Multiple submitters Cardiovascular phenotype
• p.Ala12= Multiple submitters hypertrophic cardiomyopathy
• p.Ala1201= Multiple submitters cardiomyopathy
• p.Ala1263= Multiple submitters Cardiovascular phenotype
• p.Ala13= Multiple submitters hypertrophic cardiomyopathy
• p.Ala1332= Multiple submitters Cardiovascular phenotype
• p.Ala1355= Multiple submitters Cardiovascular phenotype
• p.Ala1379= Multiple submitters cardiomyopathy
• p.Ala1400= Multiple submitters hypertrophic cardiomyopathy
• p.Ala1403= Multiple submitters hypertrophic cardiomyopathy
• p.Ala141= Multiple submitters cardiomyopathy
• p.Ala1535= Multiple submitters Cardiovascular phenotype
• p.Ala1690= Multiple submitters cardiomyopathy
• p.Ala1804= Multiple submitters Cardiovascular phenotype
• p.Ala1817= Multiple submitters Cardiovascular phenotype
• p.Ala1834= Multiple submitters Cardiovascular phenotype
• p.Ala1889= Multiple submitters cardiomyopathy
• p.Ala1910= Multiple submitters Cardiovascular phenotype
• p.Ala1913= Multiple submitters hypertrophic cardiomyopathy
• p.Ala226= Multiple submitters hypertrophic cardiomyopathy
• p.Ala279= Multiple submitters hypertrophic cardiomyopathy
• p.Ala355= Multiple submitters hypertrophic cardiomyopathy
• p.Ala423= Multiple submitters cardiomyopathy
• p.Ala445= Multiple submitters Cardiovascular phenotype
• p.Ala742= Multiple submitters cardiomyopathy
• p.Arg1079= Multiple submitters Cardiovascular phenotype
• p.Arg1136= Multiple submitters Cardiovascular phenotype
• p.Arg1167= Multiple submitters cardiomyopathy
• p.Arg1175= Multiple submitters cardiomyopathy
• p.Arg1212= Multiple submitters cardiomyopathy
• p.Arg1277= Multiple submitters cardiomyopathy
• p.Arg1344= Multiple submitters hypertrophic cardiomyopathy
• p.Arg1359= Multiple submitters MYH7-related skeletal myopathy
• p.Arg1382= Multiple submitters hypertrophic cardiomyopathy
• p.Arg1396= Multiple submitters cardiomyopathy
• p.Arg1420= Multiple submitters cardiomyopathy
• p.Arg1434= Multiple submitters hypertrophic cardiomyopathy
• p.Arg1447= Multiple submitters Cardiovascular phenotype
• p.Arg1530= Multiple submitters hypertrophic cardiomyopathy
• p.Arg1820= Multiple submitters cardiomyopathy
• p.Arg1832= Multiple submitters hypertrophic cardiomyopathy
• p.Arg1845= Multiple submitters Cardiovascular phenotype
• p.Arg281= Multiple submitters cardiomyopathy
• p.Arg663= Multiple submitters cardiomyopathy
• p.Arg703= Multiple submitters cardiomyopathy
• p.Arg706= Multiple submitters
• p.Arg723= Multiple submitters hypertrophic cardiomyopathy
• p.Arg739= Multiple submitters cardiomyopathy
• p.Arg941= Multiple submitters cardiomyopathy
• p.Asn1018= Multiple submitters hypertrophic cardiomyopathy
• p.Asn1071= Multiple submitters cardiomyopathy
• p.Asn1091= Multiple submitters Cardiovascular phenotype
• p.Asn1257= Multiple submitters Cardiovascular phenotype
• p.Asn126= Multiple submitters Cardiovascular phenotype
• p.Asn1327= Multiple submitters Cardiovascular phenotype
• p.Asn1408= Multiple submitters Cardiovascular phenotype
• p.Asn1436= Multiple submitters cardiomyopathy
• p.Asn1486= Multiple submitters Cardiovascular phenotype
• p.Asn1504= Multiple submitters hypertrophic cardiomyopathy
• p.Asn1623= Multiple submitters Cardiovascular phenotype
• p.Asn1892= Multiple submitters hypertrophic cardiomyopathy
• p.Asn416= Multiple submitters cardiomyopathy
• p.Asn444= Multiple submitters hypertrophic cardiomyopathy
• p.Asn471= Multiple submitters Cardiovascular phenotype
• p.Asn482= Multiple submitters Cardiovascular phenotype
• p.Asn562= Multiple submitters cardiomyopathy
• p.Asn654= Multiple submitters hypertrophic cardiomyopathy
• p.Asn933= Multiple submitters hypertrophic cardiomyopathy
• p.Asn977= Multiple submitters cardiomyopathy
• p.Asp1072= Multiple submitters Cardiovascular phenotype
• p.Asp1339= Multiple submitters hypertrophic cardiomyopathy
• p.Asp1450= Multiple submitters hypertrophic cardiomyopathy
• p.Asp1665= Multiple submitters cardiomyopathy
• p.Asp1866= Multiple submitters Cardiovascular phenotype
• p.Asp309= Multiple submitters Cardiovascular phenotype
• p.Asp737= Multiple submitters cardiomyopathy
• p.Asp74= Multiple submitters hypertrophic cardiomyopathy
• p.Asp750= Multiple submitters hypertrophic cardiomyopathy
• p.Asp955= Multiple submitters cardiomyopathy
• p.Asp986= Multiple submitters Cardiovascular phenotype
• p.Cys122= Multiple submitters Cardiovascular phenotype
• p.Cys1340= Multiple submitters cardiomyopathy
• p.Cys400= Multiple submitters hypertrophic cardiomyopathy
• p.Cys477= Multiple submitters Cardiovascular phenotype
• p.Cys905= Multiple submitters Cardiovascular phenotype
• p.Gln1004= Multiple submitters Cardiovascular phenotype
• p.Gln1063= Multiple submitters hypertrophic cardiomyopathy
• p.Gln1103= Multiple submitters cardiomyopathy
• p.Gln1215= Multiple submitters cardiomyopathy
• p.Gln1237= Multiple submitters congenital fiber-type disproportion myopathy
• p.Gln1267= Multiple submitters hypertrophic cardiomyopathy
• p.Gln1300= Multiple submitters Cardiovascular phenotype
• p.Gln1318= Multiple submitters Cardiovascular phenotype
• p.Gln1346= Multiple submitters hypertrophic cardiomyopathy
• p.Gln1398= Multiple submitters hypertrophic cardiomyopathy
• p.Gln1515= Multiple submitters hypertrophic cardiomyopathy
• p.Gln1888= Multiple submitters hypertrophic cardiomyopathy
• p.Gln209= Multiple submitters Cardiovascular phenotype
• p.Gln222= Multiple submitters cardiomyopathy
• p.Gln276= Multiple submitters Cardiovascular phenotype
• p.Gln44= Multiple submitters cardiomyopathy
• p.Gln451= Multiple submitters cardiomyopathy
• p.Gln454= Multiple submitters cardiomyopathy
• p.Gln487= Multiple submitters cardiomyopathy
• p.Gln720= Multiple submitters hypertrophic cardiomyopathy
• p.Gln907= Multiple submitters hypertrophic cardiomyopathy
• p.Glu1014= Multiple submitters cardiomyopathy
• p.Glu1028= Multiple submitters cardiomyopathy
• p.Glu1039= Multiple submitters hypertrophic cardiomyopathy
• p.Glu1056= Multiple submitters hypertrophic cardiomyopathy
• p.Glu1064= Multiple submitters hypertrophic cardiomyopathy
• p.Glu1142= Multiple submitters hypertrophic cardiomyopathy
• p.Glu1162= Multiple submitters cardiomyopathy
• p.Glu1223= Multiple submitters cardiomyopathy
• p.Glu1227= Multiple submitters Cardiovascular phenotype
• p.Glu1258= Multiple submitters Cardiovascular phenotype
• p.Glu1265= Multiple submitters Cardiovascular phenotype
• p.Glu1313= Multiple submitters Cardiovascular phenotype
• p.Glu1345= Multiple submitters cardiomyopathy
• p.Glu1348= Multiple submitters cardiomyopathy
• p.Glu137= Multiple submitters hypertrophic cardiomyopathy
• p.Glu1405= Multiple submitters Cardiovascular phenotype
• p.Glu1415= Multiple submitters Cardiovascular phenotype
• p.Glu1426= Multiple submitters cardiomyopathy
• p.Glu1473= Multiple submitters cardiomyopathy
• p.Glu1493= Multiple submitters Cardiovascular phenotype
• p.Glu1514= Multiple submitters hypertrophic cardiomyopathy
• p.Glu1527= Multiple submitters hypertrophic cardiomyopathy
• p.Glu1780= Multiple submitters Cardiovascular phenotype
• p.Glu1799= Multiple submitters Cardiovascular phenotype
• p.Glu1835= Multiple submitters hypertrophic cardiomyopathy
• p.Glu1855= Multiple submitters hypertrophic cardiomyopathy
• p.Glu1934= Multiple submitters cardiomyopathy
• p.Glu217= Multiple submitters cardiomyopathy
• p.Glu228= Multiple submitters cardiomyopathy
• p.Glu328= Multiple submitters cardiomyopathy
• p.Glu370= Multiple submitters Cardiovascular phenotype
• p.Glu371= Multiple submitters cardiomyopathy
• p.Glu433= Multiple submitters hypertrophic cardiomyopathy
• p.Glu497= Multiple submitters Cardiovascular phenotype
• p.Glu499= Multiple submitters Cardiovascular phenotype
• p.Glu5= Multiple submitters Cardiovascular phenotype
• p.Glu504= Multiple submitters hypertrophic cardiomyopathy
• p.Glu536= Multiple submitters hypertrophic cardiomyopathy 1
• p.Glu537= Multiple submitters Cardiovascular phenotype
• p.Glu574= Multiple submitters cardiomyopathy
• p.Glu62= Multiple submitters Cardiovascular phenotype
• p.Glu64= Multiple submitters Cardiovascular phenotype
• p.Glu743= Multiple submitters cardiomyopathy
• p.Glu88= Multiple submitters hypertrophic cardiomyopathy
• p.Glu903= Multiple submitters cardiomyopathy
• p.Glu916= Multiple submitters cardiomyopathy
• p.Glu930= Multiple submitters cardiomyopathy
• p.Glu935= Multiple submitters Cardiovascular phenotype
• p.Glu967= Multiple submitters hypertrophic cardiomyopathy
• p.Glu987= Multiple submitters cardiomyopathy
• p.Gly1057= Multiple submitters Cardiovascular phenotype
• p.Gly1154= Multiple submitters Cardiovascular phenotype
• p.Gly144= Multiple submitters Cardiovascular phenotype
• p.Gly1517= Multiple submitters hypertrophic cardiomyopathy
• p.Gly1807= Multiple submitters hypertrophic cardiomyopathy
• p.Gly245= Multiple submitters hypertrophic cardiomyopathy