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609 records found for search term Myl2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150440762CV1204446single nucleotide variantNM_000432.4(MYL2):c.*9T>Cnot provided [RCV001583551]likely benign12110911068110911068Humanname
9833319CV179442single nucleotide variantNM_000432.4(MYL2):c.-2C>TCardiomyopathy [RCV001526093]|Cardiovascular phenotype [RCV002433707]|not specified [RCV000158901]likely benign|uncertain significance12110920531110920531Human2name
401855308CV2753832single nucleotide variantNM_000432.4(MYL2):c.-1C>TCardiovascular phenotype [RCV003339195]uncertain significance12110920530110920530Humanname
34892739CV911889single nucleotide variantNM_000432.4(MYL2):c.*3G>ACardiomyopathy [RCV001175984]|Hypertrophic cardiomyopathy [RCV004000310]uncertain significance12110911074110911074Human4name
34901304CV911919single nucleotide variantNM_000432.4(MYL2):c.-3A>GCardiomyopathy [RCV001191486]|Hypertrophic cardiomyopathy [RCV004010516]likely benign12110920532110920532Human4name
127325757CV1160940single nucleotide variantNM_000432.4(MYL2):c.4-5C>GCardiomyopathy [RCV001525538]|Hypertrophic cardiomyopathy 10 [RCV002568098]likely benign|uncertain significance12110919198110919198Human3name , alternate_id
150512292CV1212961single nucleotide variantNM_000432.4(MYL2):c.*18C>Gnot provided [RCV001598193]benign12110911059110911059Humanname
150516289CV1228297single nucleotide variantNM_000432.4(MYL2):c.-27G>Anot provided [RCV001639103]benign12110920556110920556Humanname
150457626CV1237100single nucleotide variantNM_000432.4(MYL2):c.-45G>Anot provided [RCV001648779]benign12110920574110920574Humanname
150497916CV1256789single nucleotide variantNM_000432.4(MYL2):c.*53C>Gnot provided [RCV001676281]benign12110911024110911024Humanname
150450038CV1260905single nucleotide variantNM_000432.4(MYL2):c.*29C>Tnot provided [RCV001680574]benign12110911048110911048Humanname
8692133CV142099single nucleotide variantNM_000432.4(MYL2):c.-46G>Anot specified [RCV000127028]benign12110920575110920575Humanname
9833332CV179441single nucleotide variantNM_000432.4(MYL2):c.3+1G>TCardiovascular phenotype [RCV003352787]|Hypertrophic cardiomyopathy 10 [RCV001342762]|Hypertrophic cardiomyopathy [RCV003998372]|not provided [RCV000158921]pathogenic|likely pathogenic|uncertain significance12110920526110920526Human3name , alternate_id
156383991CV1881571deletionNM_000432.4(MYL2):c.4-8delHypertrophic cardiomyopathy 10 [RCV003067402]|Hypertrophic cardiomyopathy [RCV004808410]benign|likely benign12110919201110919201Human3name , alternate_id
156407949CV1911390single nucleotide variantNM_000432.4(MYL2):c.4-9T>CHypertrophic cardiomyopathy 10 [RCV002607062]likely benign12110919202110919202Human1name , alternate_id
405065146CV2934714single nucleotide variantNM_000432.4(MYL2):c.4-3C>GCardiomyopathy [RCV003532744]uncertain significance12110919196110919196Human2name
402512894CV2954771single nucleotide variantNM_000432.4(MYL2):c.3+5G>CHypertrophic cardiomyopathy 10 [RCV003629590]uncertain significance12110920522110920522Human1name , alternate_id
405048945CV3018261single nucleotide variantNM_000432.4(MYL2):c.4-8T>AHypertrophic cardiomyopathy 10 [RCV003631002]likely benign12110919201110919201Human1name , alternate_id
11660102CV316036single nucleotide variantNM_000432.4(MYL2):c.-12G>CHypertrophic cardiomyopathy 10 [RCV000363947]uncertain significance12110920541110920541Human1name , alternate_id
405688224CV3225646single nucleotide variantNM_000432.4(MYL2):c.3+1G>AHypertrophic cardiomyopathy 10 [RCV003990704]|Hypertrophic cardiomyopathy [RCV004006195]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance12110920526110920526Human3name , alternate_id
405735859CV3229801single nucleotide variantNM_000432.4(MYL2):c.4-4C>THypertrophic cardiomyopathy [RCV004014369]likely benign12110919197110919197Human2name
11658468CV329388deletionNM_000432.4(MYL2):c.4-3delHypertrophic cardiomyopathy 10 [RCV003514347]|Hypertrophic cardiomyopathy [RCV000348855]benign|uncertain significance12110919196110919196Human3name , alternate_id
11618457CV329400single nucleotide variantNM_000432.4(MYL2):c.3+9A>GHypertrophic cardiomyopathy 10 [RCV000461436]|Hypertrophic cardiomyopathy [RCV000313911]|MYL2-related disorder [RCV004544526]benign|likely benign|uncertain significance12110920518110920518Human3name , trait , alternate_id
11625271CV329402single nucleotide variantNM_000432.4(MYL2):c.-28C>THypertrophic cardiomyopathy 10 [RCV000396666]likely benign|uncertain significance12110920557110920557Human1name , alternate_id
596943120CV3546509single nucleotide variantNM_000432.4(MYL2):c.3+6T>CHypertrophic cardiomyopathy [RCV004807633]uncertain significance12110920521110920521Human2name
597884396CV3858079single nucleotide variantNM_000432.4(MYL2):c.3+7A>CHypertrophic cardiomyopathy 10 [RCV005199507]likely benign12110920520110920520Human1name , alternate_id
12890093CV398961single nucleotide variantNM_000432.4(MYL2):c.4-5C>TCardiovascular phenotype [RCV005384728]|Hypertrophic cardiomyopathy 10 [RCV001411676]likely benign|uncertain significance12110919198110919198Human1name , alternate_id
8602992CV45309single nucleotide variantNM_000432.4(MYL2):c.*10C>THypertrophic cardiomyopathy 10 [RCV000341584]|not provided [RCV001696177]|not specified [RCV003234928]benign|uncertain significance12110911067110911067Human1name , alternate_id
13607754CV526674single nucleotide variantNM_000432.4(MYL2):c.4-8T>CCardiomyopathy [RCV001176617]|Hypertrophic cardiomyopathy 10 [RCV001391699]|Hypertrophic cardiomyopathy [RCV004003901]likely benign12110919201110919201Human5name , alternate_id
21072461CV791195single nucleotide variantNM_000432.4(MYL2):c.3+2T>CHypertrophic cardiomyopathy 10 [RCV000988909]|MYL2-related disorder [RCV004545886]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity12110920525110920525Human1name , trait , alternate_id
28873241CV869284single nucleotide variantNM_000432.4(MYL2):c.*84C>THypertrophic cardiomyopathy 10 [RCV001114908]|Hypertrophic cardiomyopathy 10 [RCV002482211]uncertain significance12110910993110910993Human1name , alternate_id
28912065CV869288single nucleotide variantNM_000432.3(MYL2):c.-62C>AHypertrophic cardiomyopathy 10 [RCV001111588]uncertain significance12110920591110920591Human1name , alternate_id
28912066CV872191single nucleotide variantNM_000432.3(MYL2):c.-72T>CHypertrophic cardiomyopathy 10 [RCV001111589]uncertain significance12110920601110920601Human1name , alternate_id
34894607CV911920single nucleotide variantNM_000432.4(MYL2):c.-12G>ACardiomyopathy [RCV001177452]uncertain significance12110920541110920541Human2name
34889419CV916453single nucleotide variantNM_000432.4(MYL2):c.4-9T>ACardiomyopathy [RCV001181450]|Hypertrophic cardiomyopathy 10 [RCV003629163]likely benign12110919202110919202Human3name , alternate_id
150500539CV1213176single nucleotide variantNM_000432.4(MYL2):c.*117A>Cnot provided [RCV001594588]benign12110910960110910960Humanname
150515740CV1227653single nucleotide variantNM_000432.4(MYL2):c.4-77A>Tnot provided [RCV001638927]benign12110919270110919270Humanname
150489259CV1237623single nucleotide variantNM_000432.4(MYL2):c.*127C>Tnot provided [RCV001654472]benign12110910950110910950Humanname
150503807CV1240628single nucleotide variantNM_000432.4(MYL2):c.3+33C>Tnot provided [RCV001657471]benign12110920494110920494Humanname
151754432CV1343193single nucleotide variantNM_000432.4(MYL2):c.93+4G>AHypertrophic cardiomyopathy 10 [RCV002043613]uncertain significance12110919100110919100Human1name , alternate_id
151774784CV1362013single nucleotide variantNM_000432.4(MYL2):c.93+1G>ACardiomyopathy [RCV005401876]|Hypertrophic cardiomyopathy 10 [RCV001950506]|Hypertrophic cardiomyopathy [RCV004010957]uncertain significance12110919103110919103Human5name , alternate_id
8688947CV136734single nucleotide variantNM_000432.4(MYL2):c.4-13T>Cnot provided [RCV000119396]not provided12110919206110919206Humanname
151748259CV1367601single nucleotide variantNM_000432.4(MYL2):c.3+13G>THypertrophic cardiomyopathy 10 [RCV001894047]likely benign|uncertain significance12110920514110920514Human1name , alternate_id
152130237CV1519605single nucleotide variantNM_000432.4(MYL2):c.4-19C>THypertrophic cardiomyopathy 10 [RCV002155431]likely benign12110919212110919212Human1name , alternate_id
152155469CV1620432single nucleotide variantNM_000432.4(MYL2):c.93+9A>GHypertrophic cardiomyopathy 10 [RCV002122353]likely benign12110919095110919095Human1name , alternate_id
9690016CV175393deletionNM_000432.4(MYL2):c.4-14delCardiomyopathy [RCV000158898]|Hypertrophic cardiomyopathy 10 [RCV001803091]|not specified [RCV000155660]benign12110919207110919207Human3name , alternate_id
9833314CV179440single nucleotide variantNM_000432.4(MYL2):c.4-18G>AHypertrophic cardiomyopathy 10 [RCV002053908]|not specified [RCV000158894]benign|likely benign12110919211110919211Human1name , alternate_id
156216502CV1910648single nucleotide variantNM_000432.4(MYL2):c.3+14C>THypertrophic cardiomyopathy 10 [RCV002596285]likely benign12110920513110920513Human1name , alternate_id
156140385CV1921762single nucleotide variantNM_000432.4(MYL2):c.3+20G>AHypertrophic cardiomyopathy 10 [RCV002623637]likely benign12110920507110920507Human1name , alternate_id
156285266CV2134091single nucleotide variantNM_000432.4(MYL2):c.94-1G>CHypertrophic cardiomyopathy 10 [RCV003009745]uncertain significance12110915791110915791Human1name , alternate_id
11601957CV316034single nucleotide variantNM_000432.4(MYL2):c.*102C>AHypertrophic cardiomyopathy 10 [RCV000286639]|not provided [RCV001672464]benign|uncertain significance12110910975110910975Human1name , alternate_id
405740686CV3229262single nucleotide variantNM_000432.4(MYL2):c.4-15G>THypertrophic cardiomyopathy [RCV004015005]likely benign12110919208110919208Human2name
405732520CV3229440single nucleotide variantNM_000432.4(MYL2):c.4-15G>AHypertrophic cardiomyopathy [RCV004014007]likely benign12110919208110919208Human2name
597836497CV3757697single nucleotide variantNM_000432.4(MYL2):c.4-16T>CHypertrophic cardiomyopathy 10 [RCV005085711]likely benign12110919209110919209Human1name , alternate_id
597883702CV3799474single nucleotide variantNM_000432.4(MYL2):c.3+15T>CHypertrophic cardiomyopathy 10 [RCV005150141]likely benign12110920512110920512Human1name , alternate_id
616935702CV4010266single nucleotide variantNM_000432.4(MYL2):c.94-3C>GCardiomyopathy [RCV005403567]uncertain significance12110915793110915793Human2name
13495011CV461616single nucleotide variantNM_000432.4(MYL2):c.94-9C>THypertrophic cardiomyopathy 10 [RCV000559322]likely benign12110915799110915799Human1name , alternate_id
8606297CV52644single nucleotide variantNM_000432.4(MYL2):c.4-14C>TCardiomyopathy [RCV000771118]|Congestive heart failure [RCV003125848]|Hypertrophic cardiomyopathy 10 [RCV000625191]|not provided [RCV001642556]|not specified [RCV000036403]benign|likely benign12110919207110919207Human5name , alternate_id
14688585CV615217single nucleotide variantNM_000432.4(MYL2):c.94-3C>TCardiomyopathy [RCV000769368]|Hypertrophic cardiomyopathy 10 [RCV001373378]|Hypertrophic cardiomyopathy [RCV004807128]likely benign|conflicting interpretations of pathogenicity|uncertain significance12110915793110915793Human5name , alternate_id
14718784CV665404single nucleotide variantNM_000432.4(MYL2):c.3+65G>Anot provided [RCV000830502]likely benign12110920462110920462Humanname
14718786CV666260single nucleotide variantNM_000432.4(MYL2):c.3+97C>Tnot provided [RCV000830503]benign12110920430110920430Humanname
28870288CV869283single nucleotide variantNM_000432.4(MYL2):c.*166G>AHypertrophic cardiomyopathy 10 [RCV001113490]uncertain significance12110910911110910911Human1name , alternate_id
34894937CV915792duplicationNM_000432.4(MYL2):c.4-13dupCardiomyopathy [RCV001177730]|Hypertrophic cardiomyopathy 10 [RCV005093786]benign|likely benign12110919200110919201Human3name , alternate_id
34895082CV916173single nucleotide variantNM_000432.4(MYL2):c.93+5G>ACardiomyopathy [RCV001177826]|Cardiovascular phenotype [RCV003163397]uncertain significance12110919099110919099Human2name
127232589CV1100847single nucleotide variantNM_000432.4(MYL2):c.403-7A>CHypertrophic cardiomyopathy 10 [RCV001421367]likely benign12110911182110911182Human1name , alternate_id
127258928CV1100849single nucleotide variantNM_000432.4(MYL2):c.354-8C>AHypertrophic cardiomyopathy 10 [RCV001427495]likely benign12110913152110913152Human1name , alternate_id
150426529CV1187833single nucleotide variantNM_000432.4(MYL2):c.4-213A>Gnot provided [RCV001559692]likely benign12110919406110919406Humanname
150421132CV1194608single nucleotide variantNM_000432.4(MYL2):c.3+202G>Anot provided [RCV001570416]likely benign12110920325110920325Humanname
150418124CV1198299single nucleotide variantNM_000432.4(MYL2):c.3+254C>Tnot provided [RCV001576608]likely benign12110920273110920273Humanname
150457661CV1202652single nucleotide variantNM_000432.4(MYL2):c.3+249A>Gnot provided [RCV001586305]likely benign12110920278110920278Humanname
150492385CV1238165deletionNM_000432.4(MYL2):c.274+8delnot provided [RCV001655011]benign12110914178110914178Humanname
150471880CV1281094single nucleotide variantNM_000432.4(MYL2):c.354-6C>GHypertrophic cardiomyopathy 10 [RCV002073345]|not provided [RCV001713276]likely benign12110913150110913150Human1name , alternate_id
151349272CV1322876single nucleotide variantNM_000432.4(MYL2):c.275-2A>GCardiomyopathy [RCV001804672]|Hypertrophic cardiomyopathy 10 [RCV001869529]uncertain significance12110913326110913326Human3name , alternate_id
151885781CV1340961single nucleotide variantNM_000432.4(MYL2):c.94-19A>GHypertrophic cardiomyopathy 10 [RCV001962618]likely benign12110915809110915809Human1name , alternate_id
151824348CV1456375single nucleotide variantNM_000432.4(MYL2):c.93+11C>GHypertrophic cardiomyopathy 10 [RCV002050109]uncertain significance12110919093110919093Human1name , alternate_id
151888475CV1502240single nucleotide variantNM_000432.4(MYL2):c.274+4A>GHypertrophic cardiomyopathy 10 [RCV001942595]uncertain significance12110914182110914182Human1name , alternate_id
152163812CV1575515single nucleotide variantNM_000432.4(MYL2):c.353+9G>AHypertrophic cardiomyopathy 10 [RCV002181407]likely benign12110913237110913237Human1name , alternate_id
152116957CV1622935single nucleotide variantNM_000432.4(MYL2):c.94-15A>CHypertrophic cardiomyopathy 10 [RCV002117320]likely benign12110915805110915805Human1name , alternate_id
152123369CV1641115single nucleotide variantNM_000432.4(MYL2):c.93+15T>CHypertrophic cardiomyopathy 10 [RCV002098471]likely benign12110919089110919089Human1name , alternate_id
152135467CV1642308single nucleotide variantNM_000432.4(MYL2):c.94-16C>GHypertrophic cardiomyopathy 10 [RCV002119643]likely benign12110915806110915806Human1name , alternate_id
152094355CV1648362single nucleotide variantNM_000432.4(MYL2):c.274+7T>CHypertrophic cardiomyopathy 10 [RCV002114501]likely benign12110914179110914179Human1name , alternate_id
9833320CV179428deletionNM_000432.4(MYL2):c.274+9delCardiomyopathy [RCV000158902]benign12110914177110914177Human2name
156398351CV1881011single nucleotide variantNM_000432.4(MYL2):c.403-1G>AHypertrophic cardiomyopathy 10 [RCV003068888]|Hypertrophic cardiomyopathy [RCV004009348]pathogenic|uncertain significance12110911176110911176Human3name , alternate_id
156399925CV1892737single nucleotide variantNM_000432.4(MYL2):c.402+9G>AHypertrophic cardiomyopathy 10 [RCV003069033]likely benign12110913087110913087Human1name , alternate_id
156213925CV2074394single nucleotide variantNM_000432.4(MYL2):c.169+3A>THypertrophic cardiomyopathy 10 [RCV002829411]uncertain significance12110915712110915712Human1name , alternate_id
10449892CV215442single nucleotide variantNM_000432.4(MYL2):c.353+6T>ACardiomyopathy [RCV001181055]|Cardiovascular phenotype [RCV005404385]|Hypertrophic cardiomyopathy 10 [RCV000203063]|Hypertrophic cardiomyopathy [RCV003997049]uncertain significance12110913240110913240Human5name , alternate_id
156073564CV2172774single nucleotide variantNM_000432.4(MYL2):c.94-17T>CHypertrophic cardiomyopathy 10 [RCV003053792]likely benign12110915807110915807Human1name , alternate_id
156212521CV2176358single nucleotide variantNM_000432.4(MYL2):c.402+7G>CHypertrophic cardiomyopathy 10 [RCV003024861]likely benign12110913089110913089Human1name , alternate_id
10768130CV222204single nucleotide variantNM_000432.4(MYL2):c.403-4G>CHypertrophic cardiomyopathy 10 [RCV001448295]|Hypertrophic cardiomyopathy [RCV003997565]|not specified [RCV005406941]likely benign12110911179110911179Human3name , alternate_id
11346439CV241238single nucleotide variantNM_000432.4(MYL2):c.402+6G>CCardiomyopathy [RCV001175834]|Hypertrophic cardiomyopathy 10 [RCV000228499]|MYL2-related disorder [RCV004532840]likely benign|uncertain significance12110913090110913090Human3name , trait , alternate_id
401943429CV2840040single nucleotide variantNM_000432.4(MYL2):c.403-3C>Gnot provided [RCV003456827]uncertain significance12110911178110911178Humanname
405015771CV2865967single nucleotide variantNM_000432.4(MYL2):c.93+14T>GHypertrophic cardiomyopathy 10 [RCV003515388]likely benign12110919090110919090Human1name , alternate_id
405065126CV2934712single nucleotide variantNM_000432.4(MYL2):c.170-4C>TCardiomyopathy [RCV003532742]|Hypertrophic cardiomyopathy 10 [RCV005100380]likely benign12110914294110914294Human3name , alternate_id
402511164CV2948755single nucleotide variantNM_000432.4(MYL2):c.403-9T>CHypertrophic cardiomyopathy 10 [RCV003629447]likely benign12110911184110911184Human1name , alternate_id
402520672CV2970597single nucleotide variantNM_000432.4(MYL2):c.274+9G>CHypertrophic cardiomyopathy 10 [RCV003630181]likely benign12110914177110914177Human1name , alternate_id
402504491CV3029459single nucleotide variantNM_000432.4(MYL2):c.354-4G>AHypertrophic cardiomyopathy 10 [RCV003628609]likely benign12110913148110913148Human1name , alternate_id
402514771CV3062003single nucleotide variantNM_000432.4(MYL2):c.274+4A>CCardiovascular phenotype [RCV004654325]|Hypertrophic cardiomyopathy 10 [RCV003629750]uncertain significance12110914182110914182Human1name , alternate_id
405124580CV3136443single nucleotide variantNM_000432.4(MYL2):c.403-3C>AHypertrophic cardiomyopathy 10 [RCV003837773]|Hypertrophic cardiomyopathy [RCV004006106]uncertain significance12110911178110911178Human3name , alternate_id
402480409CV3170684deletionNM_000432.4(MYL2):c.402+9delHypertrophic cardiomyopathy 10 [RCV003875886]benign12110913087110913087Human1name , alternate_id
404994044CV3176514single nucleotide variantNM_000432.4(MYL2):c.354-8C>THypertrophic cardiomyopathy 10 [RCV003881946]likely benign12110913152110913152Human1name , alternate_id
405730995CV3229090single nucleotide variantNM_000432.4(MYL2):c.170-3T>CHypertrophic cardiomyopathy [RCV004013840]likely benign12110914293110914293Human2name
405736359CV3230690single nucleotide variantNM_000432.4(MYL2):c.402+1G>AHypertrophic cardiomyopathy [RCV004014436]uncertain significance12110913095110913095Human2name
405752074CV3232050deletionNM_000432.4(MYL2):c.354-7delHypertrophic cardiomyopathy [RCV004016366]likely benign12110913151110913151Human2name
405702994CV3233501single nucleotide variantNM_000432.4(MYL2):c.402+5T>AHypertrophic cardiomyopathy [RCV004009958]likely benign12110913091110913091Human2name
405746619CV3234812single nucleotide variantNM_000432.4(MYL2):c.354-7T>CHypertrophic cardiomyopathy [RCV004015687]likely benign12110913151110913151Human2name
11661064CV329386single nucleotide variantNM_000432.4(MYL2):c.402+8G>THypertrophic cardiomyopathy 10 [RCV000372860]conflicting interpretations of pathogenicity|uncertain significance12110913088110913088Human1name , alternate_id
12844579CV374583single nucleotide variantNM_000432.4(MYL2):c.275-7G>ACardiomyopathy [RCV001170437]|Hypertrophic cardiomyopathy 10 [RCV000474463]|Hypertrophic cardiomyopathy [RCV003995973]|not provided [RCV005243223]|not specified [RCV000438240]benign|likely benign12110913331110913331Human5name , alternate_id
597976428CV3829602single nucleotide variantNM_000432.4(MYL2):c.93+11C>THypertrophic cardiomyopathy 10 [RCV005169869]likely benign12110919093110919093Human1name , alternate_id
597873450CV3836196single nucleotide variantNM_000432.4(MYL2):c.93+17A>THypertrophic cardiomyopathy 10 [RCV005176993]likely benign12110919087110919087Human1name , alternate_id
597939556CV3836475single nucleotide variantNM_000432.4(MYL2):c.94-14C>THypertrophic cardiomyopathy 10 [RCV005187496]likely benign12110915804110915804Human1name , alternate_id
597898997CV3854619single nucleotide variantNM_000432.4(MYL2):c.169+6T>GHypertrophic cardiomyopathy 10 [RCV005201727]uncertain significance12110915709110915709Human1name , alternate_id
12896914CV389976single nucleotide variantNM_000432.4(MYL2):c.403-1G>TCardiomyopathy [RCV005401440]|Hypertrophic cardiomyopathy 10 [RCV000801781]|not specified [RCV000455988]pathogenic|uncertain significance12110911176110911176Human3name , alternate_id
12885707CV398525single nucleotide variantNM_000432.4(MYL2):c.353+7G>AHypertrophic cardiomyopathy 10 [RCV000465883]likely benign12110913239110913239Human1name , alternate_id
12892103CV398826single nucleotide variantNM_000432.4(MYL2):c.354-6C>THypertrophic cardiomyopathy 10 [RCV001470990]|not specified [RCV005407136]likely benign12110913150110913150Human1name , alternate_id
616935646CV4010231single nucleotide variantNM_000432.4(MYL2):c.402+4A>TCardiomyopathy [RCV005403532]uncertain significance12110913092110913092Human2name
8602573CV40427single nucleotide variantNM_000432.4(MYL2):c.354-2A>Gnot provided [RCV000024458]not provided12110913146110913146Humanname
8602574CV40428single nucleotide variantNM_000432.4(MYL2):c.403-1G>CCardiomyopathy [RCV005402804]|Cardiovascular phenotype [RCV003162260]|Hypertrophic cardiomyopathy 10 [RCV000466598]|Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy [RCV001553791]|not provided [RCV000024459]pathogenic|likely pathogenic|uncertain significance|not provided12110911176110911176Human4name , alternate_id
8602579CV40433single nucleotide variantNM_000432.4(MYL2):c.274+1G>Cnot provided [RCV000024464]not provided12110914185110914185Humanname
13509972CV482008single nucleotide variantNM_000432.4(MYL2):c.402+1G>THypertrophic cardiomyopathy 10 [RCV001860014]|not provided [RCV000579194]uncertain significance12110913095110913095Human1name , alternate_id
8606286CV52633single nucleotide variantNM_000432.4(MYL2):c.274+8C>THypertrophic cardiomyopathy 10 [RCV000872988]|MYL2-related disorder [RCV004541093]|not specified [RCV000036389]likely benign12110914178110914178Human1name , trait , alternate_id
8606287CV52634single nucleotide variantNM_000432.4(MYL2):c.274+9G>ACardiomyopathy [RCV003149628]|Hypertrophic cardiomyopathy 10 [RCV000474766]|Hypertrophic cardiomyopathy [RCV000392808]|not specified [RCV000036390]likely benign|uncertain significance12110914177110914177Human5name , alternate_id
13607752CV526680single nucleotide variantNM_000432.4(MYL2):c.275-8C>AHypertrophic cardiomyopathy 10 [RCV000639681]uncertain significance12110913332110913332Human1name , alternate_id
14689042CV615216single nucleotide variantNM_000432.4(MYL2):c.274+6G>TCardiomyopathy [RCV000770396]|Hypertrophic cardiomyopathy 10 [RCV001855727]uncertain significance12110914180110914180Human3name , alternate_id
14741874CV652398single nucleotide variantNM_000432.4(MYL2):c.354-3C>GHypertrophic cardiomyopathy 10 [RCV000822431]|Hypertrophic cardiomyopathy [RCV004807206]|not provided [RCV001766743]uncertain significance12110913147110913147Human3name , alternate_id
14708926CV665403deletionNM_000432.4(MYL2):c.3+218delnot provided [RCV000832047]benign12110920309110920309Humanname
14709919CV666512single nucleotide variantNM_000432.4(MYL2):c.275-8C>TCardiomyopathy [RCV001186858]|Hypertrophic cardiomyopathy 10 [RCV001078614]|not provided [RCV000827559]likely benign12110913332110913332Human3name , alternate_id
15127640CV685303single nucleotide variantNM_000432.4(MYL2):c.169+7C>THypertrophic cardiomyopathy 10 [RCV000862949]likely benign12110915708110915708Human1name , alternate_id
26884853CV852655single nucleotide variantNM_000432.4(MYL2):c.170-1G>ACardiovascular phenotype [RCV002400306]|Hypertrophic cardiomyopathy 10 [RCV001052699]|Hypertrophic cardiomyopathy [RCV004000054]uncertain significance12110914291110914291Human3name , alternate_id
34897592CV915786single nucleotide variantNM_000432.4(MYL2):c.403-6T>CCardiomyopathy [RCV001179272]|Hypertrophic cardiomyopathy 10 [RCV002558905]likely benign|uncertain significance12110911181110911181Human3name , alternate_id
34899797CV915790single nucleotide variantNM_000432.4(MYL2):c.94-10C>TCardiomyopathy [RCV001189000]|Hypertrophic cardiomyopathy 10 [RCV003629177]likely benign12110915800110915800Human3name , alternate_id
34901085CV916159single nucleotide variantNM_000432.4(MYL2):c.403-8C>TCardiomyopathy [RCV001191155]|Hypertrophic cardiomyopathy 10 [RCV001459181]likely benign12110911183110911183Human3name , alternate_id
34894539CV916164single nucleotide variantNM_000432.4(MYL2):c.275-1G>ACardiomyopathy [RCV001184685]uncertain significance12110913325110913325Human2name
34897500CV916446single nucleotide variantNM_000432.4(MYL2):c.402+3A>GCardiomyopathy [RCV001179212]|Hypertrophic cardiomyopathy [RCV004006544]uncertain significance12110913093110913093Human4name
34893730CV916449single nucleotide variantNM_000432.4(MYL2):c.354-8C>GCardiomyopathy [RCV001176772]|Hypertrophic cardiomyopathy 10 [RCV003629151]likely benign12110913152110913152Human3name , alternate_id
38499350CV960774single nucleotide variantNM_000432.4(MYL2):c.353+4A>CCardiomyopathy [RCV005401812]|Hypertrophic cardiomyopathy 10 [RCV001244522]uncertain significance12110913242110913242Human3name , alternate_id
150340065CV1168257single nucleotide variantNM_000432.4(MYL2):c.274+53G>Anot provided [RCV001534932]benign12110914133110914133Humanname
150419788CV1194607single nucleotide variantNM_000432.4(MYL2):c.94-169C>Gnot provided [RCV001569837]likely benign12110915959110915959Humanname
150445977CV1215584single nucleotide variantNM_000432.4(MYL2):c.94-168G>Anot provided [RCV001611177]benign12110915958110915958Humanname
150492324CV1225451deletionNM_000432.4(MYL2):c.274+10delnot provided [RCV001618966]benign12110914176110914176Humanname
150434253CV1230743deletionNM_000432.4(MYL2):c.274+15delnot provided [RCV001643689]benign12110914171110914171Humanname
150450041CV1232628deletionNM_000432.4(MYL2):c.274+59delnot provided [RCV001647703]benign12110914127110914127Humanname
150505751CV1254695deletionNM_000432.4(MYL2):c.403-96delnot provided [RCV001678000]benign12110911271110911271Humanname
150481557CV1258940deletionNM_000432.4(MYL2):c.274+27delnot provided [RCV001686070]benign12110914159110914159Humanname
150466203CV1268735single nucleotide variantNM_000432.4(MYL2):c.354-18G>AHypertrophic cardiomyopathy 10 [RCV002073224]|not provided [RCV001694431]benign|likely benign12110913162110913162Human1name , alternate_id
150436181CV1274565single nucleotide variantNM_000432.4(MYL2):c.275-16C>GHypertrophic cardiomyopathy 10 [RCV003771853]|not provided [RCV001724407]|not specified [RCV001700903]benign|likely benign12110913340110913340Human1name , alternate_id
8688946CV136733single nucleotide variantNM_000432.4(MYL2):c.275-58G>Anot provided [RCV000119395]not provided12110913382110913382Humanname
8692134CV142100single nucleotide variantNM_000432.4(MYL2):c.274+15G>Cnot specified [RCV000127029]benign12110914171110914171Humanname
8692135CV142101single nucleotide variantNM_000432.4(MYL2):c.274+17G>Cnot specified [RCV000127030]benign12110914169110914169Humanname
151754506CV1429633single nucleotide variantNM_000432.4(MYL2):c.353+16G>THypertrophic cardiomyopathy 10 [RCV002007193]likely benign12110913230110913230Human1name , alternate_id
151865876CV1495211single nucleotide variantNM_000432.4(MYL2):c.403-20G>AHypertrophic cardiomyopathy 10 [RCV001980708]likely benign12110911195110911195Human1name , alternate_id
152056498CV1523048single nucleotide variantNM_000432.4(MYL2):c.354-17C>GHypertrophic cardiomyopathy 10 [RCV002167503]likely benign12110913161110913161Human1name , alternate_id
152091091CV1528649single nucleotide variantNM_000432.4(MYL2):c.169+13C>THypertrophic cardiomyopathy 10 [RCV002094188]|Hypertrophic cardiomyopathy [RCV003126171]likely benign12110915702110915702Human3name , alternate_id
152114430CV1552958single nucleotide variantNM_000432.4(MYL2):c.169+18G>CHypertrophic cardiomyopathy 10 [RCV002197209]likely benign12110915697110915697Human1name , alternate_id
152046942CV1556332single nucleotide variantNM_000432.4(MYL2):c.354-20C>GHypertrophic cardiomyopathy 10 [RCV002207031]likely benign12110913164110913164Human1name , alternate_id
152048612CV1585412single nucleotide variantNM_000432.4(MYL2):c.353+21A>CHypertrophic cardiomyopathy 10 [RCV002145385]likely benign12110913225110913225Human1name , alternate_id
152165732CV1597254single nucleotide variantNM_000432.4(MYL2):c.170-17T>CHypertrophic cardiomyopathy 10 [RCV002124078]likely benign12110914307110914307Human1name , alternate_id
152065557CV1601483single nucleotide variantNM_000432.4(MYL2):c.402+10T>AHypertrophic cardiomyopathy 10 [RCV002168602]likely benign12110913086110913086Human1name , alternate_id
156065900CV1888792single nucleotide variantNM_000432.4(MYL2):c.403-18G>AHypertrophic cardiomyopathy 10 [RCV003079377]likely benign12110911193110911193Human1name , alternate_id
156040045CV1890970single nucleotide variantNM_000432.4(MYL2):c.353+19G>AHypertrophic cardiomyopathy 10 [RCV003078480]likely benign12110913227110913227Human1name , alternate_id
156190579CV1915865single nucleotide variantNM_000432.4(MYL2):c.275-19G>AHypertrophic cardiomyopathy 10 [RCV002595358]likely benign12110913343110913343Human1name , alternate_id
11088602CV230255single nucleotide variantNM_000432.4(MYL2):c.275-14G>CCardiomyopathy [RCV001182742]|Hypertrophic cardiomyopathy 10 [RCV002054960]|not specified [RCV000213783]likely benign|conflicting interpretations of pathogenicity|uncertain significance12110913338110913338Human3name , alternate_id
329955211CV2671152single nucleotide variantNM_000432.4(MYL2):c.169+20C>Tnot specified [RCV003236425]uncertain significance12110915695110915695Humanname
405014409CV2854491single nucleotide variantNM_000432.4(MYL2):c.403-16T>CHypertrophic cardiomyopathy 10 [RCV003515274]likely benign12110911191110911191Human1name , alternate_id
405024278CV2887359single nucleotide variantNM_000432.4(MYL2):c.353+12C>THypertrophic cardiomyopathy 10 [RCV003516222]likely benign12110913234110913234Human1name , alternate_id
405028933CV2896728single nucleotide variantNM_000432.4(MYL2):c.275-15T>CHypertrophic cardiomyopathy 10 [RCV003516603]likely benign12110913339110913339Human1name , alternate_id
405012093CV2916424single nucleotide variantNM_000432.4(MYL2):c.274+18T>AHypertrophic cardiomyopathy 10 [RCV003515060]likely benign12110914168110914168Human1name , alternate_id
402507532CV3047295single nucleotide variantNM_000432.4(MYL2):c.402+20A>CHypertrophic cardiomyopathy 10 [RCV003628968]likely benign12110913076110913076Human1name , alternate_id
402507391CV3054006single nucleotide variantNM_000432.4(MYL2):c.170-20G>AHypertrophic cardiomyopathy 10 [RCV003628953]likely benign12110914310110914310Human1name , alternate_id
405204415CV3116943single nucleotide variantNM_000432.4(MYL2):c.274+20T>CHypertrophic cardiomyopathy 10 [RCV003822427]likely benign12110914166110914166Human1name , alternate_id
405116227CV3134285single nucleotide variantNM_000432.4(MYL2):c.275-18C>THypertrophic cardiomyopathy 10 [RCV003836887]likely benign12110913342110913342Human1name , alternate_id
11607037CV316035single nucleotide variantNM_000432.4(MYL2):c.275-12G>ACardiomyopathy [RCV001181529]|Hypertrophic cardiomyopathy 10 [RCV000338600]|Hypertrophic cardiomyopathy [RCV003995835]|not specified [RCV000427131]likely benign|conflicting interpretations of pathogenicity|uncertain significance12110913336110913336Human5name , alternate_id
402467984CV3174225single nucleotide variantNM_000432.4(MYL2):c.274+13G>AHypertrophic cardiomyopathy 10 [RCV003873508]likely benign12110914173110914173Human1name , alternate_id
405703801CV3233566single nucleotide variantNM_000432.4(MYL2):c.275-14G>AHypertrophic cardiomyopathy [RCV004010023]uncertain significance12110913338110913338Human2name
597845176CV3761527single nucleotide variantNM_000432.4(MYL2):c.169+19C>THypertrophic cardiomyopathy 10 [RCV005087127]likely benign12110915696110915696Human1name , alternate_id
597955202CV3796151single nucleotide variantNM_000432.4(MYL2):c.275-14G>THypertrophic cardiomyopathy 10 [RCV005136968]likely benign12110913338110913338Human1name , alternate_id
597956862CV3800320single nucleotide variantNM_000432.4(MYL2):c.353+14G>CHypertrophic cardiomyopathy 10 [RCV005137412]likely benign12110913232110913232Human1name , alternate_id
597890072CV3856060single nucleotide variantNM_000432.4(MYL2):c.403-17T>CHypertrophic cardiomyopathy 10 [RCV005200305]likely benign12110911192110911192Human1name , alternate_id
8602578CV40432deletionNM_000432.4(MYL2):c.353+20delCongestive heart failure [RCV003125837]|Hypertrophic cardiomyopathy 10 [RCV000610862]|Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy [RCV001778662]|not provided [RCV000024463]|not specified [RCV000222305]benign|not provided12110913226110913226Human4name , alternate_id
8602580CV40434single nucleotide variantNM_000432.4(MYL2):c.353+51C>Tnot provided [RCV000024465]benign|not provided12110913195110913195Humanname
8602581CV40435duplicationNM_000432.4(MYL2):c.353+46dupPrimary familial hypertrophic cardiomyopathy [RCV000030323]|not provided [RCV000024466]|not specified [RCV000248026]benign|uncertain significance|not provided12110913199110913200Human1name
8602988CV45305single nucleotide variantNM_000432.4(MYL2):c.170-19T>CCardiomyopathy [RCV000852686]|Hypertrophic cardiomyopathy 10 [RCV000612374]|Hypertrophic cardiomyopathy [RCV003125845]|not provided [RCV001650850]|not specified [RCV000030321]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance12110914309110914309Human5name , alternate_id
8602989CV45306single nucleotide variantNM_000432.4(MYL2):c.353+33C>GPrimary familial hypertrophic cardiomyopathy [RCV000030322]likely benign12110913213110913213Human1name
13537034CV503540single nucleotide variantNM_000432.4(MYL2):c.402+17A>GHypertrophic cardiomyopathy 10 [RCV001860264]|not specified [RCV000609833]likely benign|uncertain significance12110913079110913079Human1name , alternate_id
13533680CV508870single nucleotide variantNM_000432.4(MYL2):c.353+16G>AHypertrophic cardiomyopathy 10 [RCV000600454]|not specified [RCV001701062]benign|likely benign|conflicting interpretations of pathogenicity12110913230110913230Human1name , alternate_id
8606293CV52640single nucleotide variantNM_000432.4(MYL2):c.353+12C>AHypertrophic cardiomyopathy 10 [RCV001109259]|not provided [RCV001636620]|not specified [RCV000036396]benign|likely benign12110913234110913234Human1name , alternate_id
14718791CV665399single nucleotide variantNM_000432.4(MYL2):c.353+51C>Anot provided [RCV000830505]|not specified [RCV001724167]benign|likely benign12110913195110913195Humanname
14718789CV665401single nucleotide variantNM_000432.4(MYL2):c.275-76A>Cnot provided [RCV000830504]likely benign12110913400110913400Humanname
14718794CV666500single nucleotide variantNM_000432.4(MYL2):c.402+93C>Tnot provided [RCV000830506]likely benign12110913003110913003Humanname
14724107CV666508deletionNM_000432.4(MYL2):c.353+47delnot provided [RCV000832838]benign12110913199110913199Humanname
14726750CV666514single nucleotide variantNM_000432.4(MYL2):c.170-54T>Cnot provided [RCV000834005]benign12110914344110914344Humanname
34901794CV915788single nucleotide variantNM_000432.4(MYL2):c.403-11G>ACardiomyopathy [RCV001192263]|Hypertrophic cardiomyopathy 10 [RCV002560149]likely benign12110911186110911186Human3name , alternate_id
34892412CV916166single nucleotide variantNM_000432.4(MYL2):c.170-14G>CCardiomyopathy [RCV001183080]|Hypertrophic cardiomyopathy 10 [RCV002559818]likely benign12110914304110914304Human3name , alternate_id
34896771CV916445single nucleotide variantNM_000432.4(MYL2):c.403-15G>CCardiomyopathy [RCV001178625]|Hypertrophic cardiomyopathy 10 [RCV002067891]likely benign12110911190110911190Human3name , alternate_id
150478103CV1218731single nucleotide variantNM_000432.4(MYL2):c.170-160C>Gnot provided [RCV001616358]benign12110914450110914450Humanname
150443270CV1249257single nucleotide variantNM_000432.4(MYL2):c.402+245T>Cnot provided [RCV001666689]benign12110912851110912851Human4name
150451460CV1254830single nucleotide variantNM_000432.4(MYL2):c.402+129G>Anot provided [RCV001667889]benign12110912967110912967Humanname
150482634CV1261651deletionNM_000432.4(MYL2):c.169+198delnot provided [RCV001686254]benign12110915517110915517Humanname
150447582CV1261839single nucleotide variantNM_000432.4(MYL2):c.403-244T>Cnot provided [RCV001680223]benign12110911419110911419Human4name
150495143CV1266178microsatelliteNM_000432.4(MYL2):c.274+9GT[8]Cardiomyopathy [RCV003150452]|not provided [RCV001688500]benign12110914160110914161Humanname
329358038CV2422332deletionNM_000432.4(MYL2):c.83_93+1delCardiovascular phenotype [RCV003165119]uncertain significance12110919103110919114Humanname
405048540CV3017473microsatelliteNM_000432.4(MYL2):c.274+9GT[4]Hypertrophic cardiomyopathy 10 [RCV003630974]likely benign12110914160110914169Humanname , alternate_id
597860339CV3860028deletionNM_000432.4(MYL2):c.3+3_3+6delHypertrophic cardiomyopathy 10 [RCV005195757]uncertain significance12110920521110920524Human1name , alternate_id
14688587CV615218microsatelliteNM_000432.4(MYL2):c.92_93+1delCardiomyopathy [RCV000769369]|Cardiovascular phenotype [RCV004027221]|not provided [RCV001775985]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance12110919103110919105Humanname
14728536CV666054single nucleotide variantNM_000432.4(MYL2):c.170-153A>Gnot provided [RCV000834819]likely benign12110914443110914443Humanname
14746180CV666257single nucleotide variantNM_000432.4(MYL2):c.274+339C>Tnot provided [RCV000844166]likely benign12110913847110913847Humanname
34892433CV911921deletionNM_000432.4(MYL2):c.-16_-13delCardiomyopathy [RCV001183093]uncertain significance12110920542110920545Human2name
151233120CV1320107microsatelliteNM_000432.4(MYL2):c.274+9GT[11]Cardiomyopathy [RCV001799464]benign12110914159110914160Humanname
13536947CV504130microsatelliteNM_000432.4(MYL2):c.170-20GT[3]Cardiomyopathy [RCV001181554]|Hypertrophic cardiomyopathy 10 [RCV002063976]|not provided [RCV001697966]likely benign12110914303110914304Humanname , alternate_id
8606285CV52632microsatelliteNM_000432.4(MYL2):c.274+9GT[10]Cardiomyopathy [RCV001798101]|not provided [RCV001594821]|not specified [RCV000036388]benign|likely benign12110914159110914160Humanname
156410651CV1882661deletionNM_000432.4(MYL2):c.166_169+13delHypertrophic cardiomyopathy 10 [RCV003072158]uncertain significance12110915702110915718Human1name , alternate_id
152099737CV1606605indelNM_000432.4(MYL2):c.4-6_4-5delinsTTHypertrophic cardiomyopathy 10 [RCV002195394]likely benign12110919198110919199Humanname , alternate_id
156351176CV1997658single nucleotide variantNM_000432.4(MYL2):c.18A>G (p.Ala6=)Cardiovascular phenotype [RCV003167580]|Hypertrophic cardiomyopathy 10 [RCV002675605]likely benign12110919179110919179Human1name , alternate_id
12907199CV415321deletionNM_000432.4(MYL2):c.6del (p.Pro3fs)Hypertrophic cardiomyopathy 10 [RCV000798438]|not provided [RCV000490156]uncertain significance12110919191110919191Human1name , alternate_id
127258885CV1100851single nucleotide variantNM_000432.4(MYL2):c.72C>G (p.Thr24=)Cardiovascular phenotype [RCV003160754]|Hypertrophic cardiomyopathy 10 [RCV001438252]likely benign12110919125110919125Human1name , alternate_id
127281153CV1100852single nucleotide variantNM_000432.4(MYL2):c.48C>T (p.Asn16=)Cardiomyopathy [RCV001806183]|Cardiovascular phenotype [RCV002341987]|Hypertrophic cardiomyopathy 10 [RCV001446924]|Hypertrophic cardiomyopathy [RCV004007042]likely benign12110919149110919149Human5name , alternate_id
150487885CV1283909deletionNM_000432.4(MYL2):c.93+183_93+186delnot provided [RCV001716020]benign12110918918110918921Humanname
152026394CV1582828single nucleotide variantNM_000432.4(MYL2):c.30C>A (p.Ala10=)Hypertrophic cardiomyopathy 10 [RCV002084783]likely benign12110919167110919167Human1name , alternate_id
152106150CV1612729single nucleotide variantNM_000432.4(MYL2):c.99C>T (p.Phe33=)Hypertrophic cardiomyopathy 10 [RCV002173743]likely benign12110915785110915785Human1name , alternate_id
155716072CV1785085single nucleotide variantNM_000432.4(MYL2):c.30C>G (p.Ala10=)Cardiovascular phenotype [RCV002325945]|Hypertrophic cardiomyopathy 10 [RCV003514554]likely benign12110919167110919167Human1name , alternate_id
155665755CV1813900single nucleotide variantNM_000432.4(MYL2):c.7C>T (p.Pro3Ser)Cardiovascular phenotype [RCV002419166]|Hypertrophic cardiomyopathy 10 [RCV003776469]|Hypertrophic cardiomyopathy [RCV004808295]uncertain significance12110919190110919190Human3name , alternate_id
11345094CV236789single nucleotide variantNM_000432.4(MYL2):c.1A>G (p.Met1Val)Cardiomyopathy [RCV005401385]|not specified [RCV000223736]uncertain significance12110920529110920529Human2name
11351991CV241239single nucleotide variantNM_000432.4(MYL2):c.42C>T (p.Asn14=)Cardiomyopathy [RCV001189726]|Cardiovascular phenotype [RCV002327108]|Hypertrophic cardiomyopathy 10 [RCV001455463]|Hypertrophic cardiomyopathy [RCV003998783]likely benign12110919155110919155Human5name , alternate_id
405729721CV3231118single nucleotide variantNM_000432.4(MYL2):c.36C>A (p.Gly12=)Hypertrophic cardiomyopathy [RCV004013699]likely benign12110919161110919161Human2name
12896192CV390072single nucleotide variantNM_000432.4(MYL2):c.4G>A (p.Ala2Thr)Cardiovascular phenotype [RCV000618317]|Hypertrophic cardiomyopathy 10 [RCV000692892]|Hypertrophic cardiomyopathy [RCV004000604]|not specified [RCV000455015]uncertain significance12110919193110919193Human3name , alternate_id
12881328CV398830insertionNM_000432.4(MYL2):c.274+8_274+9insATHypertrophic cardiomyopathy 10 [RCV000457636]uncertain significance12110914177110914178Human1name , alternate_id
13445967CV438508single nucleotide variantNM_000432.4(MYL2):c.3G>A (p.Met1Ile)Familial isolated restrictive cardiomyopathy [RCV000513098]|Hypertrophic cardiomyopathy 10 [RCV000639673]likely pathogenic|uncertain significance12110920527110920527Human1name , alternate_id
8606291CV52638single nucleotide variantNM_000432.4(MYL2):c.33G>A (p.Gly11=)Cardiomyopathy [RCV000771886]|Cardiovascular phenotype [RCV002453303]|Hypertrophic cardiomyopathy 10 [RCV000457856]|Hypertrophic cardiomyopathy [RCV003996224]|not specified [RCV000036394]benign|likely benign|conflicting interpretations of pathogenicity12110919164110919164Human5name , alternate_id
8606295CV52642single nucleotide variantNM_000432.4(MYL2):c.36C>T (p.Gly12=)Cardiomyopathy [RCV001178576]|Cardiovascular phenotype [RCV000622196]|Hypertrophic cardiomyopathy 10 [RCV000457321]|not provided [RCV001719731]|not specified [RCV000036399]benign|likely benign12110919161110919161Human3name , alternate_id
14688591CV615039single nucleotide variantNM_000432.4(MYL2):c.63C>T (p.Phe21=)Cardiomyopathy [RCV000769371]|Cardiovascular phenotype [RCV003166031]|Hypertrophic cardiomyopathy 10 [RCV000920247]|Hypertrophic cardiomyopathy [RCV003999924]|not specified [RCV005240547]likely benign|uncertain significance12110919134110919134Human5name , alternate_id
14692810CV617891single nucleotide variantNM_000432.4(MYL2):c.78C>T (p.Ile26=)Cardiomyopathy [RCV000774468]|Hypertrophic cardiomyopathy 10 [RCV002067298]likely benign12110919119110919119Human3name , alternate_id
15123656CV684286single nucleotide variantNM_000432.4(MYL2):c.30C>T (p.Ala10=)Cardiomyopathy [RCV003532289]|Hypertrophic cardiomyopathy 10 [RCV001452370]|Hypertrophic cardiomyopathy [RCV004002916]|not provided [RCV000862280]likely benign12110919167110919167Human5name , alternate_id
34901313CV911918single nucleotide variantNM_000432.4(MYL2):c.4G>T (p.Ala2Ser)Cardiomyopathy [RCV001191495]|Hypertrophic cardiomyopathy 10 [RCV001363795]likely benign|uncertain significance12110919193110919193Human3name , alternate_id
127243706CV1079111single nucleotide variantNM_000432.4(MYL2):c.285T>G (p.Pro95=)Hypertrophic cardiomyopathy 10 [RCV001398444]likely benign12110913314110913314Human1name , alternate_id
127291871CV1122308single nucleotide variantNM_000432.4(MYL2):c.120G>A (p.Arg40=)Hypertrophic cardiomyopathy 10 [RCV001476188]likely benign12110915764110915764Human1name , alternate_id
127336213CV1143169single nucleotide variantNM_000432.4(MYL2):c.264G>A (p.Glu88=)Hypertrophic cardiomyopathy 10 [RCV001492018]likely benign12110914196110914196Human1name , alternate_id
127324691CV1143170single nucleotide variantNM_000432.4(MYL2):c.249C>T (p.Leu83=)Cardiovascular phenotype [RCV005385113]|Hypertrophic cardiomyopathy 10 [RCV001505720]likely benign12110914211110914211Human1name , alternate_id
127323135CV1160938deletionNM_000432.4(MYL2):c.49del (p.Val17fs)Cardiomyopathy [RCV001523866]uncertain significance12110919148110919148Human2name
151233114CV1320105single nucleotide variantNM_000432.4(MYL2):c.111C>T (p.Asp37=)Cardiomyopathy [RCV001799462]likely benign12110915773110915773Human2name
151811253CV1345281single nucleotide variantNM_000432.4(MYL2):c.26G>A (p.Arg9Lys)Hypertrophic cardiomyopathy 10 [RCV001878291]uncertain significance12110919171110919171Human1name , alternate_id
8688945CV136732single nucleotide variantNM_000432.4(MYL2):c.135C>T (p.Asp45=)Cardiomyopathy [RCV001187168]|Hypertrophic cardiomyopathy 10 [RCV003764830]|Hypertrophic cardiomyopathy [RCV003997310]|not provided [RCV000119394]likely benign|not provided12110915749110915749Human5name , alternate_id
8692136CV142102single nucleotide variantNM_000432.4(MYL2):c.279G>A (p.Ala93=)Cardiomyopathy [RCV000770395]|Cardiovascular phenotype [RCV000253500]|Hypertrophic cardiomyopathy 10 [RCV000471087]|not specified [RCV000151361]benign|likely benign|conflicting interpretations of pathogenicity12110913320110913320Human3name , alternate_id
152078734CV1564904single nucleotide variantNM_000432.4(MYL2):c.183G>A (p.Val61=)Cardiovascular phenotype [RCV004982887]|Hypertrophic cardiomyopathy 10 [RCV002192759]likely benign12110914277110914277Human1name , alternate_id
152051922CV1607150single nucleotide variantNM_000432.4(MYL2):c.138G>A (p.Lys46=)Cardiovascular phenotype [RCV003307997]|Hypertrophic cardiomyopathy 10 [RCV002109078]|Hypertrophic cardiomyopathy [RCV004005445]likely benign12110915746110915746Human3name , alternate_id
9691987CV175535single nucleotide variantNM_000432.4(MYL2):c.237T>C (p.Phe79=)not provided [RCV004703427]|not specified [RCV000151364]likely benign12110914223110914223Humanname
9833324CV179439single nucleotide variantNM_000432.4(MYL2):c.14A>G (p.Lys5Arg)Hypertrophic cardiomyopathy 10 [RCV000816711]|Hypertrophic cardiomyopathy [RCV003998367]|not provided [RCV000158909]uncertain significance12110919183110919183Human3name , alternate_id
155738001CV1831846single nucleotide variantNM_000432.4(MYL2):c.180C>T (p.Asn60=)Cardiovascular phenotype [RCV002410143]likely benign12110914280110914280Humanname
155950159CV2076323deletionNM_000432.4(MYL2):c.50del (p.Val17fs)Hypertrophic cardiomyopathy 10 [RCV002862305]uncertain significance12110919147110919147Human1name , alternate_id
329355091CV2433865single nucleotide variantNM_000432.4(MYL2):c.144T>C (p.Asp48=)Cardiovascular phenotype [RCV003177657]likely benign12110915740110915740Humanname
11546978CV258713single nucleotide variantNM_000432.4(MYL2):c.23A>G (p.Lys8Arg)Cardiovascular phenotype [RCV000247161]|Hypertrophic cardiomyopathy [RCV003995732]uncertain significance12110919174110919174Human2name
405065139CV2934713single nucleotide variantNM_000432.4(MYL2):c.11A>G (p.Lys4Arg)Cardiomyopathy [RCV003532743]uncertain significance12110919186110919186Human2name
405045359CV2997197single nucleotide variantNM_000432.4(MYL2):c.123T>C (p.Asp41=)Hypertrophic cardiomyopathy 10 [RCV003630757]likely benign12110915761110915761Human1name , alternate_id
405223317CV3151139single nucleotide variantNM_000432.4(MYL2):c.222G>T (p.Pro74=)Hypertrophic cardiomyopathy 10 [RCV003847564]|Hypertrophic cardiomyopathy [RCV004006124]likely benign12110914238110914238Human3name , alternate_id
405716647CV3230793single nucleotide variantNM_000432.4(MYL2):c.261G>A (p.Gly87=)Hypertrophic cardiomyopathy [RCV004012382]likely benign12110914199110914199Human2name
405757710CV3233127single nucleotide variantNM_000432.4(MYL2):c.240T>A (p.Thr80=)Hypertrophic cardiomyopathy [RCV004017080]uncertain significance12110914220110914220Human2name
405753313CV3234495single nucleotide variantNM_000432.4(MYL2):c.276A>G (p.Gly92=)Hypertrophic cardiomyopathy [RCV004016545]likely benign12110913323110913323Human2name
596943116CV3546507single nucleotide variantNM_000432.4(MYL2):c.198T>C (p.Ile66=)Hypertrophic cardiomyopathy [RCV004807631]likely benign12110914262110914262Human2name
597697626CV3564866single nucleotide variantNM_000432.4(MYL2):c.126C>T (p.Gly42=)Cardiovascular phenotype [RCV004987404]likely benign12110915758110915758Humanname
12847430CV372551single nucleotide variantNM_000432.4(MYL2):c.222G>A (p.Pro74=)Cardiomyopathy [RCV001191580]|Cardiovascular phenotype [RCV002429358]|Hypertrophic cardiomyopathy 10 [RCV000607532]|Hypertrophic cardiomyopathy [RCV003995972]|not provided [RCV000443467]|not specified [RCV001700368]benign|likely benign12110914238110914238Human5name , alternate_id
597939602CV3788484single nucleotide variantNM_000432.4(MYL2):c.267A>G (p.Lys89=)Hypertrophic cardiomyopathy 10 [RCV005133159]likely benign12110914193110914193Human1name , alternate_id
12886120CV398438single nucleotide variantNM_000432.4(MYL2):c.147G>A (p.Leu49=)Cardiomyopathy [RCV001177368]|Hypertrophic cardiomyopathy 10 [RCV001416131]likely benign12110915737110915737Human3name , alternate_id
616934082CV4012060single nucleotide variantNM_000432.4(MYL2):c.13A>G (p.Lys5Glu)not specified [RCV005408611]uncertain significance12110919184110919184Humanname
8602577CV40431single nucleotide variantNM_000432.4(MYL2):c.132T>C (p.Ile44=)Cardiomyopathy [RCV000776005]|Cardiovascular phenotype [RCV000251488]|Congestive heart failure [RCV003125836]|Hypertrophic cardiomyopathy 10 [RCV000599777]|not provided [RCV000024462]|not specified [RCV000036380]benign|likely benign|not provided12110915752110915752Human5name , alternate_id
13478994CV461609single nucleotide variantNM_000432.4(MYL2):c.216G>A (p.Glu72=)Cardiomyopathy [RCV001182236]|Cardiovascular phenotype [RCV002420421]|Hypertrophic cardiomyopathy 10 [RCV000527877]|Hypertrophic cardiomyopathy [RCV004806423]likely benign12110914244110914244Human5name , alternate_id
13539061CV504129single nucleotide variantNM_000432.4(MYL2):c.294C>T (p.Thr98=)not specified [RCV000612751]likely benign12110913305110913305Humanname
13527955CV510342single nucleotide variantNM_000432.4(MYL2):c.20A>G (p.Lys7Arg)Cardiovascular phenotype [RCV000620385]uncertain significance12110919177110919177Humanname
8606280CV52627single nucleotide variantNM_000432.4(MYL2):c.141C>T (p.Asn47=)Cardiomyopathy [RCV003531921]|Cardiovascular phenotype [RCV002390143]|Hypertrophic cardiomyopathy 10 [RCV000538837]|Hypertrophic cardiomyopathy [RCV003996219]|not specified [RCV000036382]likely benign12110915743110915743Human5name , alternate_id
8606283CV52630single nucleotide variantNM_000432.4(MYL2):c.243G>T (p.Val81=)Cardiomyopathy [RCV000769366]|Cardiovascular phenotype [RCV000619440]|Hypertrophic cardiomyopathy 10 [RCV000552836]|Hypertrophic cardiomyopathy [RCV003996221]|MYL2-related disorder [RCV004541092]|not provided [RCV001642555]|not specified [RCV000036386]benign|likely benign12110914217110914217Human5name , trait , alternate_id
14692580CV617890single nucleotide variantNM_000432.4(MYL2):c.156C>A (p.Thr52=)Cardiomyopathy [RCV000774111]|Cardiovascular phenotype [RCV002397541]|Hypertrophic cardiomyopathy 10 [RCV000867120]|Hypertrophic cardiomyopathy [RCV004001352]likely benign12110915728110915728Human5name , alternate_id
15150120CV687879single nucleotide variantNM_000432.4(MYL2):c.172C>A (p.Arg58=)Cardiomyopathy [RCV001183865]|Cardiovascular phenotype [RCV004027684]|Hypertrophic cardiomyopathy 10 [RCV000866987]|Hypertrophic cardiomyopathy [RCV004002990]likely benign12110914288110914288Human5name , alternate_id
34897812CV911911single nucleotide variantNM_000432.4(MYL2):c.174A>G (p.Arg58=)Cardiomyopathy [RCV001179480]|Hypertrophic cardiomyopathy 10 [RCV002068244]likely benign12110914286110914286Human3name , alternate_id
42722783CV985291deletionNM_000432.4(MYL2):c.47del (p.Asn16fs)Cardiovascular phenotype [RCV002334751]|Hypertrophic cardiomyopathy 10 [RCV005208963]pathogenic|uncertain significance12110919150110919150Human1name , alternate_id
126752974CV1010124single nucleotide variantNM_000432.4(MYL2):c.47A>G (p.Asn16Ser)Cardiovascular phenotype [RCV004651570]|Hypertrophic cardiomyopathy 10 [RCV001316404]|not provided [RCV001760386]uncertain significance12110919150110919150Human1name , alternate_id
126772728CV1030662deletionNM_000432.4(MYL2):c.240del (p.Val81fs)Hypertrophic cardiomyopathy 10 [RCV001345783]uncertain significance12110914220110914220Human1name , alternate_id
127279814CV1100848single nucleotide variantNM_000432.4(MYL2):c.369G>A (p.Leu123=)Hypertrophic cardiomyopathy 10 [RCV001446006]likely benign12110913129110913129Human1name , alternate_id
127233321CV1100850single nucleotide variantNM_000432.4(MYL2):c.300C>T (p.Leu100=)Hypertrophic cardiomyopathy 10 [RCV001421724]likely benign12110913299110913299Human1name , alternate_id
127328579CV1122307single nucleotide variantNM_000432.4(MYL2):c.375G>C (p.Thr125=)Cardiovascular phenotype [RCV002350957]|Hypertrophic cardiomyopathy 10 [RCV001469613]likely benign12110913123110913123Human1name , alternate_id
127325204CV1160933single nucleotide variantNM_000432.4(MYL2):c.463C>T (p.Leu155=)Cardiomyopathy [RCV001525187]|Cardiovascular phenotype [RCV002334574]|Hypertrophic cardiomyopathy [RCV004008823]likely benign12110911115110911115Human4name
127325160CV1160934single nucleotide variantNM_000432.4(MYL2):c.426C>T (p.Phe142=)Cardiomyopathy [RCV001525165]|Cardiovascular phenotype [RCV002329654]likely benign12110911152110911152Human2name
127326782CV1160936single nucleotide variantNM_000432.4(MYL2):c.408C>T (p.Asp136=)Cardiomyopathy [RCV001526216]|Cardiovascular phenotype [RCV002324126]|Hypertrophic cardiomyopathy 10 [RCV002070335]|Hypertrophic cardiomyopathy [RCV004008899]likely benign12110911170110911170Human5name , alternate_id
127323447CV1160939single nucleotide variantNM_000432.4(MYL2):c.35G>T (p.Gly12Val)Cardiomyopathy [RCV001524052]|Hypertrophic cardiomyopathy [RCV004007251]uncertain significance12110919162110919162Human4name
150334765CV1166033single nucleotide variantNM_000432.4(MYL2):c.372C>T (p.Thr124=)Cardiovascular phenotype [RCV004988677]|not provided [RCV001531171]likely benign12110913126110913126Humanname
150471877CV1281093insertionNM_000432.4(MYL2):c.274+25_274+26insGTnot provided [RCV001713275]benign12110914160110914161Humanname
150533342CV1311126deletionNM_000432.4(MYL2):c.217del (p.Ala73fs)not provided [RCV001776861]uncertain significance12110914243110914243Humanname
151351067CV1323322single nucleotide variantNM_000432.4(MYL2):c.393C>G (p.Ser131=)Cardiomyopathy [RCV001805650]likely benign12110913105110913105Human2name
151663041CV1330901deletionNM_000432.4(MYL2):c.141del (p.Asn47fs)Primary familial hypertrophic cardiomyopathy [RCV001825079]likely pathogenic12110915743110915743Human1name
8688939CV136726single nucleotide variantNM_000432.4(MYL2):c.58A>C (p.Met20Leu)not provided [RCV000119381]not provided12110919139110919139Humanname
151845269CV1381623single nucleotide variantNM_000432.4(MYL2):c.50T>C (p.Val17Ala)Cardiovascular phenotype [RCV003348575]|Hypertrophic cardiomyopathy 10 [RCV001881856]|Hypertrophic cardiomyopathy 10 [RCV002478254]uncertain significance12110919147110919147Human2name , alternate_id
151755420CV1387797single nucleotide variantNM_000432.4(MYL2):c.28G>C (p.Ala10Pro)Hypertrophic cardiomyopathy 10 [RCV001969620]uncertain significance12110919169110919169Human1name , alternate_id
151736791CV1429311single nucleotide variantNM_000432.4(MYL2):c.71C>T (p.Thr24Ile)Hypertrophic cardiomyopathy 10 [RCV002021901]uncertain significance12110919126110919126Human1name , alternate_id
151863032CV1474412single nucleotide variantNM_000432.4(MYL2):c.486A>C (p.Gly162=)Cardiovascular phenotype [RCV002334811]|Hypertrophic cardiomyopathy 10 [RCV001884180]likely benign12110911092110911092Human1name , alternate_id
151828650CV1479993single nucleotide variantNM_000432.4(MYL2):c.92A>G (p.Glu31Gly)Hypertrophic cardiomyopathy 10 [RCV001901581]|Hypertrophic cardiomyopathy [RCV004808154]uncertain significance12110919105110919105Human3name , alternate_id
151772980CV1504832single nucleotide variantNM_000432.4(MYL2):c.46A>G (p.Asn16Asp)Hypertrophic cardiomyopathy 10 [RCV001988420]|not provided [RCV004697179]uncertain significance12110919151110919151Human1name , alternate_id
151807919CV1505524single nucleotide variantNM_000432.4(MYL2):c.35G>A (p.Gly12Asp)Hypertrophic cardiomyopathy 10 [RCV002048578]uncertain significance12110919162110919162Human1name , alternate_id
152081595CV1546783single nucleotide variantNM_000432.4(MYL2):c.367C>T (p.Leu123=)Hypertrophic cardiomyopathy 10 [RCV002130885]likely benign12110913131110913131Human1name , alternate_id
152061312CV1618448single nucleotide variantNM_000432.4(MYL2):c.501G>A (p.Ter167=)Hypertrophic cardiomyopathy 10 [RCV002090285]likely benign12110911077110911077Human1name , alternate_id
9690810CV175386single nucleotide variantNM_000432.4(MYL2):c.480C>T (p.Thr160=)Cardiomyopathy [RCV001190194]|Hypertrophic cardiomyopathy 10 [RCV003629102]|Hypertrophic cardiomyopathy [RCV003998316]|not specified [RCV000156501]likely benign12110911098110911098Human5name , alternate_id
155725695CV1790969single nucleotide variantNM_000432.4(MYL2):c.41A>G (p.Asn14Ser)Cardiovascular phenotype [RCV002327847]uncertain significance12110919156110919156Humanname
155742125CV1791254single nucleotide variantNM_000432.4(MYL2):c.438G>T (p.Val146=)Cardiovascular phenotype [RCV002333640]likely benign12110911140110911140Humanname
9833321CV179427insertionNM_000432.4(MYL2):c.274+16_274+17insTCCardiomyopathy [RCV000158903]|Hypertrophic cardiomyopathy 10 [RCV000625483]|not provided [RCV001529455]|not specified [RCV001174735]benign|likely benign|no classifications from unflagged records12110914169110914170Human3name , alternate_id
9833329CV179433single nucleotide variantNM_000432.4(MYL2):c.97T>C (p.Phe33Leu)Cardiomyopathy [RCV001186245]|Cardiovascular phenotype [RCV003352786]|Hypertrophic cardiomyopathy 10 [RCV000537629]|Hypertrophic cardiomyopathy 10 [RCV002505191]|Hypertrophic cardiomyopathy [RCV003998370]|not provided [RCV000158916]uncertain significance12110915787110915787Human6name , alternate_id
9833328CV179434single nucleotide variantNM_000432.4(MYL2):c.64G>T (p.Glu22Ter)Cardiovascular phenotype [RCV002362844]|not provided [RCV000158915]uncertain significance12110919133110919133Humanname
9833327CV179435single nucleotide variantNM_000432.4(MYL2):c.53T>C (p.Phe18Ser)Cardiovascular phenotype [RCV004019921]|Hypertrophic cardiomyopathy 10 [RCV001850228]|Hypertrophic cardiomyopathy [RCV000852440]|not provided [RCV000158913]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance12110919144110919144Human3name , alternate_id
9833326CV179436single nucleotide variantNM_000432.4(MYL2):c.49G>A (p.Val17Met)Cardiomyopathy [RCV001181615]|Cardiovascular phenotype [RCV000241994]|Hypertrophic cardiomyopathy 10 [RCV000470133]|Hypertrophic cardiomyopathy 10 [RCV002484987]|Hypertrophic cardiomyopathy [RCV003998369]|not provided [RCV000158912]uncertain significance12110919148110919148Human6name , alternate_id
9833318CV179437single nucleotide variantNM_000432.4(MYL2):c.34G>T (p.Gly12Cys)Cardiomyopathy [RCV000774463]|Cardiovascular phenotype [RCV004984708]|Hypertrophic cardiomyopathy 10 [RCV001208534]|Hypertrophic cardiomyopathy [RCV003998366]benign|uncertain significance12110919163110919163Human5name , alternate_id
9833325CV179438single nucleotide variantNM_000432.4(MYL2):c.28G>A (p.Ala10Thr)Cardiomyopathy [RCV001185249]|Cardiovascular phenotype [RCV005372251]|Hypertrophic cardiomyopathy 10 [RCV000794360]|Hypertrophic cardiomyopathy [RCV003998368]|not provided [RCV000158910]uncertain significance12110919169110919169Human5name , alternate_id
156384471CV1891573insertionNM_000432.4(MYL2):c.274+11_274+12insGCHypertrophic cardiomyopathy 10 [RCV003067446]likely benign12110914174110914175Human1name , alternate_id
156099128CV2051019single nucleotide variantNM_000432.4(MYL2):c.486A>T (p.Gly162=)Hypertrophic cardiomyopathy 10 [RCV002824490]likely benign12110911092110911092Human1name , alternate_id
11545292CV258712single nucleotide variantNM_000432.4(MYL2):c.456C>T (p.Tyr152=)Cardiomyopathy [RCV000777833]|Cardiovascular phenotype [RCV000244942]|Hypertrophic cardiomyopathy 10 [RCV000534152]|Hypertrophic cardiomyopathy [RCV003999015]|MYL2-related disorder [RCV004535215]|not provided [RCV001722368]|not specified [RCV001729497]benign|likely benign12110911122110911122Human5name , trait , alternate_id
401718650CV2732825single nucleotide variantNM_000432.4(MYL2):c.40A>C (p.Asn14His)Cardiovascular phenotype [RCV003311102]uncertain significance12110919157110919157Humanname
401855080CV2753831single nucleotide variantNM_000432.4(MYL2):c.61T>G (p.Phe21Val)Cardiovascular phenotype [RCV003339194]uncertain significance12110919136110919136Humanname
405015708CV2865597single nucleotide variantNM_000432.4(MYL2):c.84A>C (p.Glu28Asp)Hypertrophic cardiomyopathy 10 [RCV003515382]uncertain significance12110919113110919113Human1name , alternate_id
8599674CV29103single nucleotide variantNM_000432.4(MYL2):c.37G>A (p.Ala13Thr)Cardiomyopathy [RCV001184984]|Cardiovascular phenotype [RCV000620870]|Hypertrophic cardiomyopathy 1 [RCV000584799]|Hypertrophic cardiomyopathy 10 [RCV000015108]|Hypertrophic cardiomyopathy [RCV000626337]|Primary familial hypertrophic cardiomyopathy [RCV000148714]|not provided [RCV000766474]pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided12110919160110919160Human7name , alternate_id
8599675CV29104single nucleotide variantNM_000432.4(MYL2):c.64G>A (p.Glu22Lys)Cardiomyopathy [RCV001170438]|Cardiovascular phenotype [RCV002354163]|Death in early adulthood [RCV000234985]|Hypertrophic cardiomyopathy 10 [RCV000015109]|Hypertrophic cardiomyopathy [RCV000768488]|MYL2-related disorder [RCV004532354]|not provided [RCV000158914pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided12110919133110919133Human7name , trait , alternate_id
8599678CV29107single nucleotide variantNM_000432.4(MYL2):c.52T>C (p.Phe18Leu)Cardiomyopathy [RCV005401284]|Cardiovascular phenotype [RCV000246859]|Hypertrophic cardiomyopathy 10 [RCV000015112]|Hypertrophic cardiomyopathy 10 [RCV002504789]|Hypertrophic cardiomyopathy [RCV004806011]|not provided [RCV002247340]pathogenic|likely pathogenic12110919145110919145Human6name , alternate_id
405065100CV2934710single nucleotide variantNM_000432.4(MYL2):c.384G>A (p.Glu128=)Cardiomyopathy [RCV003532740]likely benign12110913114110913114Human2name
402520773CV2963585single nucleotide variantNM_000432.4(MYL2):c.420C>A (p.Ala140=)Hypertrophic cardiomyopathy 10 [RCV003630189]likely benign12110911158110911158Human1name , alternate_id
402523972CV2985286single nucleotide variantNM_000432.4(MYL2):c.351T>C (p.Asp117=)Hypertrophic cardiomyopathy 10 [RCV003630433]likely benign12110913248110913248Human1name , alternate_id
405046946CV3012668single nucleotide variantNM_000432.4(MYL2):c.62T>C (p.Phe21Ser)Hypertrophic cardiomyopathy 10 [RCV003630852]uncertain significance12110919135110919135Human1name , alternate_id
405049578CV3025434single nucleotide variantNM_000432.4(MYL2):c.41A>T (p.Asn14Ile)Hypertrophic cardiomyopathy 10 [RCV003631049]uncertain significance12110919156110919156Human1name , alternate_id
402464535CV3177063single nucleotide variantNM_000432.4(MYL2):c.330C>A (p.Gly110=)Hypertrophic cardiomyopathy 10 [RCV003872694]likely benign12110913269110913269Human1name , alternate_id
405725723CV3230548single nucleotide variantNM_000432.4(MYL2):c.306A>G (p.Ala102=)Hypertrophic cardiomyopathy [RCV004013301]likely benign12110913293110913293Human2name
405712548CV3231855deletionNM_000432.4(MYL2):c.224del (p.Gly75fs)Hypertrophic cardiomyopathy [RCV004011885]uncertain significance12110914236110914236Human2name
405755646CV3232683single nucleotide variantNM_000432.4(MYL2):c.70A>G (p.Thr24Ala)Hypertrophic cardiomyopathy [RCV004016819]uncertain significance12110919127110919127Human2name
405756335CV3232979single nucleotide variantNM_000432.4(MYL2):c.381G>T (p.Ala127=)Hypertrophic cardiomyopathy [RCV004016930]likely benign12110913117110913117Human2name
405686485CV3388889single nucleotide variantNM_000432.4(MYL2):c.73C>G (p.Gln25Glu)Cardiovascular phenotype [RCV004518445]|not provided [RCV005054484]uncertain significance12110919124110919124Humanname
407504438CV3454539single nucleotide variantNM_000432.4(MYL2):c.42C>G (p.Asn14Lys)Cardiovascular phenotype [RCV004645814]uncertain significance12110919155110919155Humanname
12832970CV372858single nucleotide variantNM_000432.4(MYL2):c.315G>C (p.Val105=)Cardiomyopathy [RCV001187664]|Cardiovascular phenotype [RCV005384714]|Hypertrophic cardiomyopathy 10 [RCV002062504]|Hypertrophic cardiomyopathy [RCV004000368]|not specified [RCV000417604]likely benign12110913284110913284Human5name , alternate_id
597946221CV3774823single nucleotide variantNM_000432.4(MYL2):c.56C>T (p.Ser19Phe)Hypertrophic cardiomyopathy 10 [RCV005119920]uncertain significance12110919141110919141Human1name , alternate_id
597945226CV3779581single nucleotide variantNM_000432.4(MYL2):c.43T>G (p.Ser15Ala)Hypertrophic cardiomyopathy 10 [RCV005134545]uncertain significance12110919154110919154Human1name , alternate_id
597912704CV3817317single nucleotide variantNM_000432.4(MYL2):c.95C>T (p.Ala32Val)Hypertrophic cardiomyopathy 10 [RCV005154519]uncertain significance12110915789110915789Human1name , alternate_id
597899125CV3854635single nucleotide variantNM_000432.4(MYL2):c.88A>G (p.Lys30Glu)Hypertrophic cardiomyopathy 10 [RCV005201743]uncertain significance12110919109110919109Human1name , alternate_id
598223588CV3892130single nucleotide variantNM_000432.4(MYL2):c.52T>A (p.Phe18Ile)Hypertrophic cardiomyopathy 10 [RCV005253470]uncertain significance12110919145110919145Human1name , alternate_id
13436947CV433728single nucleotide variantNM_000432.4(MYL2):c.59T>A (p.Met20Lys)Hypertrophic cardiomyopathy 10 [RCV001321322]|not specified [RCV000508032]uncertain significance12110919138110919138Human1name , alternate_id
8602991CV45308single nucleotide variantNM_000432.4(MYL2):c.381G>A (p.Ala127=)Cardiomyopathy [RCV000770392]|Cardiovascular phenotype [RCV000245283]|Hypertrophic cardiomyopathy 10 [RCV000234665]|Hypertrophic cardiomyopathy [RCV003125846]|Primary familial hypertrophic cardiomyopathy [RCV000030325]|not provided [RCV001705608]|not specified [RCV000036402]benign|likely benign12110913117110913117Human7name , alternate_id
13482537CV462181single nucleotide variantNM_000432.4(MYL2):c.375G>A (p.Thr125=)Cardiomyopathy [RCV000777852]|Cardiovascular phenotype [RCV003352910]|Hypertrophic cardiomyopathy 10 [RCV000551899]|Hypertrophic cardiomyopathy 10 [RCV002476147]|Hypertrophic cardiomyopathy [RCV003999137]likely benign12110913123110913123Human6name , alternate_id
13469619CV462412single nucleotide variantNM_000432.4(MYL2):c.444C>T (p.Gly148=)Cardiovascular phenotype [RCV002330873]|Hypertrophic cardiomyopathy 10 [RCV000545501]likely benign|uncertain significance12110911134110911134Human1name , alternate_id
13534684CV510341single nucleotide variantNM_000432.4(MYL2):c.387G>A (p.Arg129=)Cardiomyopathy [RCV001190199]|Cardiovascular phenotype [RCV000618872]|Hypertrophic cardiomyopathy 10 [RCV001417069]|Hypertrophic cardiomyopathy [RCV004002662]likely benign12110913111110913111Human5name , alternate_id
8606289CV52636single nucleotide variantNM_000432.4(MYL2):c.31G>A (p.Gly11Arg)Cardiomyopathy [RCV001185545]|Hypertrophic cardiomyopathy 10 [RCV001036752]|Hypertrophic cardiomyopathy [RCV003996223]|Primary dilated cardiomyopathy [RCV000678724]|not specified [RCV000036392]uncertain significance12110919166110919166Human6name , alternate_id
8606290CV52637single nucleotide variantNM_000432.4(MYL2):c.324T>C (p.Pro108=)not specified [RCV000036393]likely benign12110913275110913275Humanname
8606292CV52639single nucleotide variantNM_000432.4(MYL2):c.342G>A (p.Leu114=)Cardiomyopathy [RCV001170436]|Cardiovascular phenotype [RCV002453304]|Hypertrophic cardiomyopathy 10 [RCV000467703]|Hypertrophic cardiomyopathy [RCV003996225]|not provided [RCV002292460]|not specified [RCV000036395]benign|likely benign|conflicting interpretations of pathogenicity12110913257110913257Human5name , alternate_id
8606299CV52646single nucleotide variantNM_000432.4(MYL2):c.429C>G (p.Pro143=)Cardiovascular phenotype [RCV002326735]|Hypertrophic cardiomyopathy 10 [RCV000462127]|MYL2-related disorder [RCV004534760]|not specified [RCV000036405]likely benign12110911149110911149Human1name , trait , alternate_id
8606300CV52647single nucleotide variantNM_000432.4(MYL2):c.447C>T (p.Asn149=)Cardiomyopathy [RCV003531922]|Cardiovascular phenotype [RCV004984659]|Hypertrophic cardiomyopathy 10 [RCV000560339]|Hypertrophic cardiomyopathy [RCV003996228]|not specified [RCV000036406]likely benign12110911131110911131Human5name , alternate_id
8606304CV52651single nucleotide variantNM_000432.4(MYL2):c.80A>G (p.Gln27Arg)Hypertrophic cardiomyopathy 10 [RCV001852758]|Hypertrophic cardiomyopathy [RCV000036410]|Primary familial hypertrophic cardiomyopathy [RCV000845333]likely pathogenic|uncertain significance12110919117110919117Human4name , alternate_id
8606305CV52652single nucleotide variantNM_000432.4(MYL2):c.82G>A (p.Glu28Lys)not specified [RCV000036411]uncertain significance12110919115110919115Humanname
8606306CV52653single nucleotide variantNM_000432.4(MYL2):c.84A>T (p.Glu28Asp)Cardiomyopathy [RCV003149629]|not specified [RCV000036412]uncertain significance12110919113110919113Human2name
13607742CV527248single nucleotide variantNM_000432.4(MYL2):c.42C>A (p.Asn14Lys)Cardiovascular phenotype [RCV004025585]|Hypertrophic cardiomyopathy 10 [RCV000639674]|Hypertrophic cardiomyopathy [RCV004003899]uncertain significance12110919155110919155Human3name , alternate_id
14689039CV615036single nucleotide variantNM_000432.4(MYL2):c.420C>G (p.Ala140=)Cardiomyopathy [RCV000770391]likely benign12110911158110911158Human2name
14688589CV615038single nucleotide variantNM_000432.4(MYL2):c.81G>C (p.Gln27His)Cardiomyopathy [RCV000769370]uncertain significance12110919116110919116Human2name
15099597CV687878single nucleotide variantNM_000432.4(MYL2):c.420C>T (p.Ala140=)Cardiomyopathy [RCV003532298]|Cardiovascular phenotype [RCV002332812]|Hypertrophic cardiomyopathy 10 [RCV002064634]|Hypertrophic cardiomyopathy [RCV004003054]likely benign12110911158110911158Human5name , alternate_id
15120848CV693142single nucleotide variantNM_000432.4(MYL2):c.417C>T (p.Phe139=)Cardiomyopathy [RCV001176106]|Hypertrophic cardiomyopathy 10 [RCV001429557]|Hypertrophic cardiomyopathy [RCV004003096]likely benign12110911161110911161Human5name , alternate_id
15162325CV753091single nucleotide variantNM_000432.4(MYL2):c.465G>C (p.Leu155=)Hypertrophic cardiomyopathy 10 [RCV001444447]likely benign12110911113110911113Human1name , alternate_id
15107263CV768890single nucleotide variantNM_000432.4(MYL2):c.435C>T (p.Asp145=)Cardiomyopathy [RCV001183082]|Cardiovascular phenotype [RCV003169407]|Hypertrophic cardiomyopathy 10 [RCV001505935]|Hypertrophic cardiomyopathy [RCV004003298]likely benign12110911143110911143Human5name , alternate_id
21405473CV799665insertionNM_000432.4(MYL2):c.274+15_274+16insCTFamilial hypertrophic cardiomyopathy 10 [RCV001000538]benign12110914170110914171Humanname , alternate_id
26884799CV839321single nucleotide variantNM_000432.4(MYL2):c.83A>G (p.Glu28Gly)Hypertrophic cardiomyopathy 10 [RCV001052552]uncertain significance12110919114110919114Human1name , alternate_id
28910533CV869286single nucleotide variantNM_000432.4(MYL2):c.354C>T (p.Tyr118=)Cardiomyopathy [RCV005401734]|Cardiovascular phenotype [RCV002339403]|Hypertrophic cardiomyopathy 10 [RCV001109258]|MYL2-related disorder [RCV004538331]likely benign|uncertain significance12110913144110913144Human3name , trait , alternate_id
28910534CV869287single nucleotide variantNM_000432.4(MYL2):c.41A>C (p.Asn14Thr)Hypertrophic cardiomyopathy 10 [RCV001109260]uncertain significance12110919156110919156Human1name , alternate_id
34896931CV911890single nucleotide variantNM_000432.4(MYL2):c.483C>T (p.His161=)Cardiomyopathy [RCV001186028]|Cardiovascular phenotype [RCV002339469]|Hypertrophic cardiomyopathy 10 [RCV001405765]|Hypertrophic cardiomyopathy [RCV004008572]likely benign12110911095110911095Human5name , alternate_id
34897140CV911892single nucleotide variantNM_000432.4(MYL2):c.474C>T (p.Ile158=)Cardiomyopathy [RCV001186204]|Cardiovascular phenotype [RCV002339470]|Hypertrophic cardiomyopathy 10 [RCV001442408]likely benign12110911104110911104Human3name , alternate_id
34891418CV911894single nucleotide variantNM_000432.4(MYL2):c.468G>A (p.Val156=)Cardiomyopathy [RCV001182519]|Cardiovascular phenotype [RCV003284021]|Hypertrophic cardiomyopathy 10 [RCV002068319]|Hypertrophic cardiomyopathy [RCV004008305]likely benign12110911110110911110Human5name , alternate_id
34898176CV911895single nucleotide variantNM_000432.4(MYL2):c.450G>A (p.Leu150=)Cardiomyopathy [RCV001187039]|Hypertrophic cardiomyopathy [RCV004008654]likely benign12110911128110911128Human4name
34897566CV911904single nucleotide variantNM_000432.4(MYL2):c.303C>T (p.Asn101=)Cardiomyopathy [RCV001179256]|Cardiovascular phenotype [RCV002445422]|Hypertrophic cardiomyopathy 10 [RCV001443899]|Hypertrophic cardiomyopathy [RCV004006550]likely benign12110913296110913296Human5name , alternate_id
34901558CV911909deletionNM_000432.4(MYL2):c.188del (p.Asn63fs)Cardiomyopathy [RCV001191866]|Cardiovascular phenotype [RCV002411721]|Hypertrophic cardiomyopathy 10 [RCV001211451]|not provided [RCV001567726]|not specified [RCV003396801]conflicting interpretations of pathogenicity|uncertain significance12110914272110914272Human3name , alternate_id
34895354CV911914single nucleotide variantNM_000432.4(MYL2):c.58A>G (p.Met20Val)Cardiomyopathy [RCV001178039]|Hypertrophic cardiomyopathy 10 [RCV003629155]uncertain significance12110919139110919139Human3name , alternate_id
34896063CV911915single nucleotide variantNM_000432.4(MYL2):c.56C>G (p.Ser19Cys)Cardiomyopathy [RCV001185608]|Hypertrophic cardiomyopathy 10 [RCV001317123]|Hypertrophic cardiomyopathy [RCV004807399]uncertain significance12110919141110919141Human5name , alternate_id
34901851CV911916single nucleotide variantNM_000432.4(MYL2):c.34G>A (p.Gly12Ser)Cardiomyopathy [RCV001192326]|Hypertrophic cardiomyopathy 10 [RCV001859164]uncertain significance12110919163110919163Human3name , alternate_id
34901189CV911917single nucleotide variantNM_000432.4(MYL2):c.31G>C (p.Gly11Arg)Cardiomyopathy [RCV001191292]uncertain significance12110919166110919166Human2name
126774650CV1030661deletionNM_000432.4(MYL2):c.432del (p.Asp145fs)Hypertrophic cardiomyopathy 10 [RCV001347471]|Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy [RCV001553793]pathogenic|uncertain significance12110911146110911146Human2name , alternate_id
126747118CV1030663single nucleotide variantNM_000432.4(MYL2):c.119G>C (p.Arg40Thr)Hypertrophic cardiomyopathy 10 [RCV001337424]|Hypertrophic cardiomyopathy [RCV004808017]uncertain significance12110915765110915765Human3name , alternate_id
126913131CV1047677single nucleotide variantNM_000432.4(MYL2):c.232A>G (p.Asn78Asp)Hypertrophic cardiomyopathy 10 [RCV001359060]|not provided [RCV001776218]uncertain significance12110914228110914228Human1name , alternate_id
127325530CV1160937single nucleotide variantNM_000432.4(MYL2):c.139A>T (p.Asn47Tyr)Cardiomyopathy [RCV001525383]uncertain significance12110915745110915745Human2name
150516477CV1287377single nucleotide variantNM_000432.4(MYL2):c.286G>A (p.Glu96Lys)not provided [RCV001723356]pathogenic|likely pathogenic12110913313110913313Humanname
150557228CV1310582single nucleotide variantNM_000432.4(MYL2):c.220C>T (p.Pro74Ser)Hypertrophic cardiomyopathy 10 [RCV003514522]|not provided [RCV001776316]uncertain significance12110914240110914240Human1name , alternate_id
151233117CV1320106single nucleotide variantNM_000432.4(MYL2):c.193G>T (p.Glu65Ter)Cardiomyopathy [RCV001799463]likely pathogenic12110914267110914267Human2name
151233123CV1320108single nucleotide variantNM_000432.4(MYL2):c.275G>A (p.Gly92Glu)Cardiomyopathy [RCV001799465]|Cardiovascular phenotype [RCV002440882]|Hypertrophic cardiomyopathy 10 [RCV002304238]uncertain significance12110913324110913324Human3name , alternate_id
151348640CV1322641single nucleotide variantNM_000432.4(MYL2):c.110A>G (p.Asp37Gly)Cardiomyopathy [RCV001804437]uncertain significance12110915774110915774Human2name
151348775CV1322706single nucleotide variantNM_000432.4(MYL2):c.144T>A (p.Asp48Glu)Cardiomyopathy [RCV001804502]|Cardiovascular phenotype [RCV002388674]uncertain significance12110915740110915740Human2name
151350338CV1323023single nucleotide variantNM_000432.4(MYL2):c.161C>T (p.Ala54Val)Cardiomyopathy [RCV001805350]|Hypertrophic cardiomyopathy 10 [RCV001869536]|Hypertrophic cardiomyopathy [RCV004009125]uncertain significance12110915723110915723Human5name , alternate_id
151351043CV1323297single nucleotide variantNM_000432.4(MYL2):c.241G>A (p.Val81Met)Cardiomyopathy [RCV001805625]uncertain significance12110914219110914219Human2name
151355692CV1326824single nucleotide variantNM_000432.4(MYL2):c.259G>A (p.Gly87Arg)Cardiovascular phenotype [RCV004040956]|Hypertrophic cardiomyopathy 10 [RCV001885309]|not provided [RCV001822034]uncertain significance12110914201110914201Human1name , alternate_id
151876363CV1360217single nucleotide variantNM_000432.4(MYL2):c.133G>A (p.Asp45Asn)Hypertrophic cardiomyopathy 10 [RCV001907114]uncertain significance12110915751110915751Human1name , alternate_id
151861380CV1364915duplicationNM_000432.4(MYL2):c.352dup (p.Tyr118fs)Hypertrophic cardiomyopathy 10 [RCV002017796]uncertain significance12110913246110913247Human1name , alternate_id
151797346CV1377029single nucleotide variantNM_000432.4(MYL2):c.295A>G (p.Ile99Val)Hypertrophic cardiomyopathy 10 [RCV001917385]uncertain significance12110913304110913304Human1name , alternate_id
151831502CV1377915single nucleotide variantNM_000432.4(MYL2):c.212A>T (p.Lys71Met)Hypertrophic cardiomyopathy 10 [RCV002014353]uncertain significance12110914248110914248Human1name , alternate_id
151819297CV1385836single nucleotide variantNM_000432.4(MYL2):c.135C>A (p.Asp45Glu)Cardiomyopathy [RCV003533091]|Hypertrophic cardiomyopathy 10 [RCV002013213]uncertain significance12110915749110915749Human3name , alternate_id
151727000CV1409818single nucleotide variantNM_000432.4(MYL2):c.218C>A (p.Ala73Asp)Hypertrophic cardiomyopathy 10 [RCV001910476]|Hypertrophic cardiomyopathy [RCV004808161]uncertain significance12110914242110914242Human3name , alternate_id
151885788CV1418197single nucleotide variantNM_000432.4(MYL2):c.283C>T (p.Pro95Ser)Cardiomyopathy [RCV005403131]|Hypertrophic cardiomyopathy 10 [RCV001887426]|not provided [RCV005416569]uncertain significance12110913316110913316Human3name , alternate_id
151818863CV1420897single nucleotide variantNM_000432.4(MYL2):c.217G>T (p.Ala73Ser)Hypertrophic cardiomyopathy 10 [RCV002049589]uncertain significance12110914243110914243Human1name , alternate_id
151806281CV1453416single nucleotide variantNM_000432.4(MYL2):c.290A>T (p.Glu97Val)Hypertrophic cardiomyopathy 10 [RCV001877831]uncertain significance12110913309110913309Human1name , alternate_id
151847080CV1483917single nucleotide variantNM_000432.4(MYL2):c.172C>T (p.Arg58Ter)Cardiomyopathy [RCV005403139]|Hypertrophic cardiomyopathy 10 [RCV001903576]|Hypertrophic cardiomyopathy [RCV004010835]|MYL2-related disorder [RCV004538604]uncertain significance12110914288110914288Human5name , trait , alternate_id
151798878CV1503989single nucleotide variantNM_000432.4(MYL2):c.160G>T (p.Ala54Ser)Hypertrophic cardiomyopathy 10 [RCV001973723]uncertain significance12110915724110915724Human1name , alternate_id
151818979CV1513897single nucleotide variantNM_000432.4(MYL2):c.274G>A (p.Gly92Arg)Hypertrophic cardiomyopathy 10 [RCV001933956]uncertain significance12110914186110914186Human1name , alternate_id
9586861CV165570single nucleotide variantNM_000432.4(MYL2):c.239C>A (p.Thr80Asn)Hypertrophic cardiomyopathy 10 [RCV000542482]|Hypertrophic cardiomyopathy [RCV000844710]|Primary familial hypertrophic cardiomyopathy [RCV000143928]pathogenic|likely pathogenic12110914221110914221Human4name , alternate_id
152034476CV1669520deletionNM_000432.4(MYL2):c.11_15del (p.Lys4fs)Hypertrophic cardiomyopathy 10 [RCV005095765]|not provided [RCV002223511]uncertain significance12110919182110919186Human1name , alternate_id
153346518CV1691798single nucleotide variantNM_000432.4(MYL2):c.205A>C (p.Met69Leu)Hypertrophic cardiomyopathy 10 [RCV002273281]uncertain significance12110914255110914255Human1name , alternate_id
9691986CV175389single nucleotide variantNM_000432.4(MYL2):c.275G>T (p.Gly92Val)Hypertrophic cardiomyopathy 10 [RCV002516041]|not specified [RCV000151362]likely pathogenic|uncertain significance12110913324110913324Human1name , alternate_id
9691988CV175390single nucleotide variantNM_000432.4(MYL2):c.184A>T (p.Lys62Ter)Cardiomyopathy [RCV001177585]|Hypertrophic cardiomyopathy 10 [RCV000198198]|Hypertrophic cardiomyopathy [RCV003998211]|not provided [RCV000766353]conflicting interpretations of pathogenicity|uncertain significance12110914276110914276Human5name , alternate_id
9689149CV175391single nucleotide variantNM_000432.4(MYL2):c.142G>T (p.Asp48Tyr)Hypertrophic cardiomyopathy 10 [RCV001350528]|not specified [RCV000154586]uncertain significance12110915742110915742Human1name , alternate_id
9691989CV175392single nucleotide variantNM_000432.4(MYL2):c.119G>A (p.Arg40Lys)Cardiovascular phenotype [RCV002345474]|Hypertrophic cardiomyopathy 10 [RCV000464490]|Hypertrophic cardiomyopathy [RCV001293059]|not provided [RCV000766478]|not specified [RCV000151367]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance12110915765110915765Human3name , alternate_id
9689179CV175536single nucleotide variantNM_000432.4(MYL2):c.163G>T (p.Ala55Ser)Cardiovascular phenotype [RCV002399541]|Hypertrophic cardiomyopathy 10 [RCV001297385]|Hypertrophic cardiomyopathy [RCV003998256]|not provided [RCV000489222]likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance12110915721110915721Human3name , alternate_id
9690100CV175537single nucleotide variantNM_000432.4(MYL2):c.119G>T (p.Arg40Met)Hypertrophic cardiomyopathy 10 [RCV000463477]|not specified [RCV000155752]uncertain significance12110915765110915765Human1name , alternate_id
9833334CV179429single nucleotide variantNM_000432.4(MYL2):c.257T>C (p.Phe86Ser)Cardiomyopathy [RCV001180080]|Cardiovascular phenotype [RCV002426780]|Hypertrophic cardiomyopathy 10 [RCV001370474]|Hypertrophic cardiomyopathy [RCV003998374]|not provided [RCV000158925]|not specified [RCV002247553]likely pathogenic|uncertain significance12110914203110914203Human5name , alternate_id
9833333CV179430single nucleotide variantNM_000432.4(MYL2):c.181G>A (p.Val61Met)Cardiomyopathy [RCV001524471]|Hypertrophic cardiomyopathy 10 [RCV001241595]|Hypertrophic cardiomyopathy [RCV003998373]|not provided [RCV000158924]uncertain significance12110914279110914279Human5name , alternate_id
9833331CV179431single nucleotide variantNM_000432.4(MYL2):c.113A>G (p.Gln38Arg)not provided [RCV000158918]likely pathogenic|uncertain significance12110915771110915771Humanname
9833330CV179432single nucleotide variantNM_000432.4(MYL2):c.103A>G (p.Ile35Val)Cardiomyopathy [RCV003532001]|Cardiovascular phenotype [RCV002390384]|Hypertrophic cardiomyopathy 10 [RCV001219554]|Hypertrophic cardiomyopathy [RCV003998371]likely pathogenic|uncertain significance12110915781110915781Human5name , alternate_id
155691618CV1794726single nucleotide variantNM_000432.4(MYL2):c.112C>A (p.Gln38Lys)Cardiovascular phenotype [RCV002320490]uncertain significance12110915772110915772Humanname
155745753CV1838813single nucleotide variantNM_000432.4(MYL2):c.185A>C (p.Lys62Thr)Cardiovascular phenotype [RCV002414883]uncertain significance12110914275110914275Humanname
155696592CV1845323single nucleotide variantNM_000432.4(MYL2):c.247C>T (p.Leu83Phe)Cardiovascular phenotype [RCV002443941]|Hypertrophic cardiomyopathy [RCV004808341]uncertain significance12110914213110914213Human2name
156370392CV1888025single nucleotide variantNM_000432.4(MYL2):c.160G>A (p.Ala54Thr)Hypertrophic cardiomyopathy 10 [RCV003092373]|MYL2-related disorder [RCV004736269]uncertain significance12110915724110915724Human1name , trait , alternate_id
10046881CV189893deletionNM_000432.4(MYL2):c.431del (p.Pro144fs)Cardiovascular phenotype [RCV000618518]|Hypertrophic cardiomyopathy 10 [RCV001852081]|Hypertrophic cardiomyopathy [RCV000171842]|Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy [RCV001553792]pathogenic|likely pathogenic|uncertain significance12110911147110911147Human4name , alternate_id
156216496CV2039145single nucleotide variantNM_000432.4(MYL2):c.221C>G (p.Pro74Arg)Hypertrophic cardiomyopathy 10 [RCV002766819]|Hypertrophic cardiomyopathy [RCV004007593]uncertain significance12110914239110914239Human3name , alternate_id
156276725CV2053631single nucleotide variantNM_000432.4(MYL2):c.284C>T (p.Pro95Leu)Hypertrophic cardiomyopathy 10 [RCV002806850]uncertain significance12110913315110913315Human1name , alternate_id
156296144CV2065327single nucleotide variantNM_000432.4(MYL2):c.263A>C (p.Glu88Ala)Hypertrophic cardiomyopathy 10 [RCV002856950]|Hypertrophic cardiomyopathy [RCV004808374]uncertain significance12110914197110914197Human3name , alternate_id
156107655CV2096513single nucleotide variantNM_000432.4(MYL2):c.259G>C (p.Gly87Arg)Hypertrophic cardiomyopathy 10 [RCV002913647]uncertain significance12110914201110914201Human1name , alternate_id
10448657CV214121single nucleotide variantNM_000432.4(MYL2):c.125G>A (p.Gly42Asp)Cardiomyopathy [RCV001178807]|Cardiovascular phenotype [RCV002426954]|Hypertrophic cardiomyopathy 10 [RCV000201445]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance12110915759110915759Human3name , alternate_id
156392909CV2185335single nucleotide variantNM_000432.4(MYL2):c.101C>A (p.Thr34Asn)Hypertrophic cardiomyopathy 10 [RCV003051522]uncertain significance12110915783110915783Human1name , alternate_id
11040397CV224436single nucleotide variantNM_000432.4(MYL2):c.262G>A (p.Glu88Lys)Hypertrophic cardiomyopathy 10 [RCV001062013]|Primary dilated cardiomyopathy [RCV000208449]uncertain significance12110914198110914198Human2name , alternate_id
11094192CV230256single nucleotide variantNM_000432.4(MYL2):c.101C>T (p.Thr34Ile)Cardiomyopathy [RCV001187404]|not specified [RCV000220734]uncertain significance12110915783110915783Human2name
401735156CV2699182single nucleotide variantNM_000432.4(MYL2):c.203A>C (p.Glu68Ala)Cardiovascular phenotype [RCV004303680]uncertain significance12110914257110914257Humanname
405015820CV2862258single nucleotide variantNM_000432.4(MYL2):c.172C>G (p.Arg58Gly)Hypertrophic cardiomyopathy 10 [RCV003515393]uncertain significance12110914288110914288Human1name , alternate_id
8599676CV29105single nucleotide variantNM_000432.4(MYL2):c.283C>G (p.Pro95Ala)Hypertrophic cardiomyopathy 10 [RCV000015110]|Hypertrophic cardiomyopathy [RCV003996096]pathogenic|uncertain significance12110913316110913316Human3name , alternate_id
8599677CV29106single nucleotide variantNM_000432.4(MYL2):c.173G>A (p.Arg58Gln)Cardiomyopathy [RCV001798005]|Cardiovascular phenotype [RCV000621867]|Hypertrophic cardiomyopathy 10 [RCV000015111]|Hypertrophic cardiomyopathy [RCV000844711]|Primary familial hypertrophic cardiomyopathy [RCV000157369]|not provided [RCV000158923]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity12110914287110914287Human7name , alternate_id
405022274CV2927321deletionNM_000432.4(MYL2):c.19_23del (p.Lys7fs)Hypertrophic cardiomyopathy 10 [RCV003516030]uncertain significance12110919174110919178Human1name , alternate_id
405065112CV2934711duplicationNM_000432.4(MYL2):c.337dup (p.Val113fs)Cardiomyopathy [RCV003532741]uncertain significance12110913261110913262Human2name
402523575CV2981084single nucleotide variantNM_000432.4(MYL2):c.277G>C (p.Ala93Pro)Hypertrophic cardiomyopathy 10 [RCV003630402]uncertain significance12110913322110913322Human1name , alternate_id
402514998CV3069395single nucleotide variantNM_000432.4(MYL2):c.122A>T (p.Asp41Val)Hypertrophic cardiomyopathy 10 [RCV003629769]uncertain significance12110915762110915762Human1name , alternate_id
405739012CV3228845single nucleotide variantNM_000432.4(MYL2):c.224G>A (p.Gly75Asp)Hypertrophic cardiomyopathy [RCV004014766]uncertain significance12110914236110914236Human2name
405723943CV3230369single nucleotide variantNM_000432.4(MYL2):c.176T>C (p.Val59Ala)Hypertrophic cardiomyopathy [RCV004013122]uncertain significance12110914284110914284Human2name
405757718CV3233128single nucleotide variantNM_000432.4(MYL2):c.145C>G (p.Leu49Val)Hypertrophic cardiomyopathy [RCV004017081]uncertain significance12110915739110915739Human2name
405753163CV3234476deletionNM_000432.4(MYL2):c.357del (p.Arg120fs)Hypertrophic cardiomyopathy [RCV004016526]uncertain significance12110913141110913141Human2name
405746055CV3234752single nucleotide variantNM_000432.4(MYL2):c.133G>C (p.Asp45His)Hypertrophic cardiomyopathy 10 [RCV005103352]|Hypertrophic cardiomyopathy [RCV004015626]uncertain significance12110915751110915751Human3name , alternate_id
408394841CV3522089single nucleotide variantNM_000432.4(MYL2):c.275G>C (p.Gly92Ala)Hypertrophic cardiomyopathy [RCV004765088]uncertain significance12110913324110913324Human2name
408389132CV3522921single nucleotide variantNM_000432.4(MYL2):c.131T>C (p.Ile44Thr)not provided [RCV004769302]uncertain significance12110915753110915753Humanname
596931347CV3531683single nucleotide variantNM_000432.4(MYL2):c.227C>T (p.Pro76Leu)not provided [RCV004781245]uncertain significance12110914233110914233Humanname
596943115CV3546506deletionNM_000432.4(MYL2):c.333del (p.Val113fs)Hypertrophic cardiomyopathy 10 [RCV005061463]|Hypertrophic cardiomyopathy [RCV004807630]uncertain significance12110913266110913266Human3name , alternate_id
597697620CV3564864single nucleotide variantNM_000432.4(MYL2):c.293C>G (p.Thr98Ser)Cardiovascular phenotype [RCV004987402]uncertain significance12110913306110913306Humanname
597697622CV3564865single nucleotide variantNM_000432.4(MYL2):c.110A>T (p.Asp37Val)Cardiovascular phenotype [RCV004987403]uncertain significance12110915774110915774Humanname
597958750CV3751865single nucleotide variantNM_000432.4(MYL2):c.167T>C (p.Leu56Pro)Hypertrophic cardiomyopathy 10 [RCV005080994]uncertain significance12110915717110915717Human1name , alternate_id
597848676CV3792990single nucleotide variantNM_000432.4(MYL2):c.230T>C (p.Ile77Thr)Hypertrophic cardiomyopathy 10 [RCV005145126]uncertain significance12110914230110914230Human1name , alternate_id
597913460CV3850968single nucleotide variantNM_000432.4(MYL2):c.224G>T (p.Gly75Val)Hypertrophic cardiomyopathy 10 [RCV005203936]uncertain significance12110914236110914236Human1name , alternate_id
598190107CV3994052single nucleotide variantNM_000432.4(MYL2):c.283C>A (p.Pro95Thr)Cardiovascular phenotype [RCV005373990]uncertain significance12110913316110913316Humanname
616934886CV4010140single nucleotide variantNM_000432.4(MYL2):c.269T>G (p.Leu90Arg)Cardiomyopathy [RCV005401761]uncertain significance12110914191110914191Human2name
616935869CV4010367single nucleotide variantNM_000432.4(MYL2):c.149G>A (p.Arg50Lys)Cardiomyopathy [RCV005403668]uncertain significance12110915735110915735Human2name
8602572CV40426single nucleotide variantNM_000432.4(MYL2):c.141C>A (p.Asn47Lys)Cardiomyopathy [RCV000769367]|Cardiovascular phenotype [RCV000254541]|Death in infancy [RCV000234981]|Hypertrophic cardiomyopathy 1 [RCV000584767]|Hypertrophic cardiomyopathy 10 [RCV000528536]|Hypertrophic cardiomyopathy 10 [RCV002504822]|Hypertrophic cardiomyopathy [RCV003996116]|Premature ventricupathogenic|likely benign|uncertain significance|not provided12110915743110915743Human12name , alternate_id
13486940CV462187single nucleotide variantNM_000432.4(MYL2):c.207G>T (p.Met69Ile)Cardiovascular phenotype [RCV004984960]|Hypertrophic cardiomyopathy 10 [RCV000554010]uncertain significance12110914253110914253Human1name , alternate_id
13486930CV462418single nucleotide variantNM_000432.4(MYL2):c.289G>A (p.Glu97Lys)Cardiovascular phenotype [RCV002438360]|Hypertrophic cardiomyopathy 10 [RCV000531533]uncertain significance12110913310110913310Human1name , alternate_id
13509664CV482009single nucleotide variantNM_000432.4(MYL2):c.289G>T (p.Glu97Ter)not provided [RCV000578587]uncertain significance12110913310110913310Humanname
8606281CV52628single nucleotide variantNM_000432.4(MYL2):c.170G>A (p.Gly57Glu)Cardiomyopathy [RCV001187128]|Cardiovascular phenotype [RCV000620413]|Hypertrophic cardiomyopathy 10 [RCV000819932]|Hypertrophic cardiomyopathy [RCV003996220]|not provided [RCV000119378]|not specified [RCV000036384]likely pathogenic|uncertain significance|not provided12110914290110914290Human5name , alternate_id
8606282CV52629single nucleotide variantNM_000432.4(MYL2):c.193G>A (p.Glu65Lys)Hypertrophic cardiomyopathy 10 [RCV002513380]|Hypertrophic cardiomyopathy [RCV000626688]|not provided [RCV001588846]likely pathogenic|uncertain significance12110914267110914267Human3name , alternate_id
8606284CV52631single nucleotide variantNM_000432.4(MYL2):c.260G>C (p.Gly87Ala)Cardiovascular phenotype [RCV002433497]|Hypertrophic cardiomyopathy [RCV000036387]|not provided [RCV000484012]likely pathogenic|uncertain significance12110914200110914200Human2name
13607751CV526673single nucleotide variantNM_000432.4(MYL2):c.229A>G (p.Ile77Val)Cardiovascular phenotype [RCV002424423]|Hypertrophic cardiomyopathy 10 [RCV000639680]|Hypertrophic cardiomyopathy [RCV004003900]uncertain significance12110914231110914231Human3name , alternate_id
13607749CV526675single nucleotide variantNM_000432.4(MYL2):c.278C>T (p.Ala93Val)Hypertrophic cardiomyopathy 10 [RCV000639679]uncertain significance12110913321110913321Human1name , alternate_id
13607747CV526684single nucleotide variantNM_000432.4(MYL2):c.173G>T (p.Arg58Leu)Hypertrophic cardiomyopathy 10 [RCV000639677]|not provided [RCV001575874]likely pathogenic12110914287110914287Human1name , alternate_id
13816249CV566320single nucleotide variantNM_000432.4(MYL2):c.260G>A (p.Gly87Glu)Cardiovascular phenotype [RCV002424631]|Hypertrophic cardiomyopathy 10 [RCV000692199]|not provided [RCV001538762]likely pathogenic|uncertain significance12110914200110914200Human1name , alternate_id
13808984CV567667single nucleotide variantNM_000432.4(MYL2):c.203A>G (p.Glu68Gly)Cardiovascular phenotype [RCV004026266]|Hypertrophic cardiomyopathy 10 [RCV000687538]|Hypertrophic cardiomyopathy 10 [RCV002485609]|Hypertrophic cardiomyopathy [RCV004004268]uncertain significance12110914257110914257Human4name , alternate_id
14741813CV640635single nucleotide variantNM_000432.4(MYL2):c.256T>C (p.Phe86Leu)Cardiomyopathy [RCV003532282]|Cardiovascular phenotype [RCV002427065]|Hypertrophic cardiomyopathy 10 [RCV000822404]|Hypertrophic cardiomyopathy [RCV004002842]|not provided [RCV002223255]likely benign|uncertain significance12110914204110914204Human5name , alternate_id
14739281CV640636single nucleotide variantNM_000432.4(MYL2):c.254T>C (p.Met85Thr)Hypertrophic cardiomyopathy 10 [RCV000821299]uncertain significance12110914206110914206Human1name , alternate_id
14724986CV640637single nucleotide variantNM_000432.4(MYL2):c.253A>G (p.Met85Val)Cardiovascular phenotype [RCV003344054]|Hypertrophic cardiomyopathy 10 [RCV000798623]uncertain significance12110914207110914207Human1name , alternate_id
14712563CV640638single nucleotide variantNM_000432.4(MYL2):c.142G>A (p.Asp48Asn)Cardiomyopathy [RCV000852439]|Hypertrophic cardiomyopathy 10 [RCV000810331]|Hypertrophic cardiomyopathy 10 [RCV002507408]|Hypertrophic cardiomyopathy [RCV004001721]uncertain significance12110915742110915742Human5name , alternate_id
21072460CV791194single nucleotide variantNM_000432.4(MYL2):c.163G>C (p.Ala55Pro)Hypertrophic cardiomyopathy 10 [RCV000988908]likely pathogenic12110915721110915721Human1name , alternate_id
26895050CV839318single nucleotide variantNM_000432.4(MYL2):c.278C>A (p.Ala93Glu)Hypertrophic cardiomyopathy 10 [RCV001063816]|Hypertrophic cardiomyopathy [RCV004000136]|not provided [RCV001760032]|not specified [RCV001195235]pathogenic|uncertain significance12110913321110913321Human3name , alternate_id
26888154CV839319single nucleotide variantNM_000432.4(MYL2):c.247C>G (p.Leu83Val)Hypertrophic cardiomyopathy 10 [RCV001057148]uncertain significance12110914213110914213Human1name , alternate_id
26921214CV839320single nucleotide variantNM_000432.4(MYL2):c.175G>A (p.Val59Met)Hypertrophic cardiomyopathy 10 [RCV001049441]uncertain significance12110914285110914285Human1name , alternate_id
34898309CV911898duplicationNM_000432.4(MYL2):c.438dup (p.Thr147fs)Cardiomyopathy [RCV001179900]uncertain significance12110911139110911140Human2name
34893271CV911906single nucleotide variantNM_000432.4(MYL2):c.221C>T (p.Pro74Leu)Cardiomyopathy [RCV001176400]|Hypertrophic cardiomyopathy 10 [RCV001875812]|Hypertrophic cardiomyopathy [RCV004006291]uncertain significance12110914239110914239Human5name , alternate_id
34899953CV911907single nucleotide variantNM_000432.4(MYL2):c.216G>C (p.Glu72Asp)Cardiomyopathy [RCV001189237]uncertain significance12110914244110914244Human2name
34901370CV911908single nucleotide variantNM_000432.4(MYL2):c.206T>C (p.Met69Thr)Cardiomyopathy [RCV001191590]|Hypertrophic cardiomyopathy 10 [RCV001876239]|Hypertrophic cardiomyopathy 10 [RCV002484051]|Hypertrophic cardiomyopathy [RCV004010527]uncertain significance12110914254110914254Human5name , alternate_id
34895378CV911910single nucleotide variantNM_000432.4(MYL2):c.176T>A (p.Val59Glu)Cardiomyopathy [RCV001185348]uncertain significance12110914284110914284Human2name
34888998CV911912single nucleotide variantNM_000432.4(MYL2):c.151G>T (p.Asp51Tyr)Cardiomyopathy [RCV001181201]uncertain significance12110915733110915733Human2name
34895128CV911913single nucleotide variantNM_000432.4(MYL2):c.142G>C (p.Asp48His)Cardiomyopathy [RCV001185155]uncertain significance12110915742110915742Human2name
34896240CV917100single nucleotide variantNM_000432.4(MYL2):c.181G>C (p.Val61Leu)Cardiovascular phenotype [RCV004986932]|Hypertrophic cardiomyopathy 10 [RCV002559224]|not specified [RCV001193581]uncertain significance12110914279110914279Human1name , alternate_id
38491522CV956747single nucleotide variantNM_000432.4(MYL2):c.255G>A (p.Met85Ile)Cardiovascular phenotype [RCV002451582]|Hypertrophic cardiomyopathy 10 [RCV001239501]uncertain significance12110914205110914205Human1name , alternate_id
126756612CV994904single nucleotide variantNM_000432.4(MYL2):c.169G>A (p.Gly57Arg)Hypertrophic cardiomyopathy 10 [RCV001308163]uncertain significance12110915715110915715Human1name , alternate_id
126768460CV1010121single nucleotide variantNM_000432.4(MYL2):c.499T>G (p.Ter167Glu)Hypertrophic cardiomyopathy 10 [RCV001321375]uncertain significance12110911079110911079Human1name , alternate_id
126772739CV1010122single nucleotide variantNM_000432.4(MYL2):c.496G>A (p.Asp166Asn)Hypertrophic cardiomyopathy 10 [RCV001323928]|not provided [RCV001751627]uncertain significance12110911082110911082Human1name , alternate_id
126757278CV1010123single nucleotide variantNM_000432.4(MYL2):c.434A>G (p.Asp145Gly)Hypertrophic cardiomyopathy 10 [RCV001317440]uncertain significance12110911144110911144Human1name , alternate_id
126750280CV1030660single nucleotide variantNM_000432.4(MYL2):c.454T>G (p.Tyr152Asp)Hypertrophic cardiomyopathy 10 [RCV001352216]uncertain significance12110911124110911124Human1name , alternate_id
126913916CV1047676single nucleotide variantNM_000432.4(MYL2):c.487G>A (p.Glu163Lys)Hypertrophic cardiomyopathy 10 [RCV001359350]uncertain significance12110911091110911091Human1name , alternate_id
127286759CV1151326single nucleotide variantNM_000432.4(MYL2):c.499T>C (p.Ter167Gln)Congenital myopathy with fiber type disproportion [RCV001507318]likely pathogenic12110911079110911079Human1name
127326977CV1160935single nucleotide variantNM_000432.4(MYL2):c.424T>C (p.Phe142Leu)Cardiomyopathy [RCV001526320]|Cardiovascular phenotype [RCV002329656]|Hypertrophic cardiomyopathy 10 [RCV002568125]|Hypertrophic cardiomyopathy [RCV004008906]|not provided [RCV001776247]uncertain significance12110911154110911154Human5name , alternate_id
150416330CV1192635single nucleotide variantNM_000432.4(MYL2):c.473T>C (p.Ile158Thr)Congenital heart disease [RCV001568358]pathogenic12110911105110911105Human1name
150516487CV1287382single nucleotide variantNM_000432.4(MYL2):c.376C>T (p.Gln126Ter)Hypertrophic cardiomyopathy 10 [RCV002506746]|Hypertrophic cardiomyopathy [RCV004008971]|not provided [RCV001723361]pathogenic|likely pathogenic|uncertain significance12110913122110913122Human3name , alternate_id
151350471CV1323068single nucleotide variantNM_000432.4(MYL2):c.304G>T (p.Ala102Ser)Cardiomyopathy [RCV001805396]|Hypertrophic cardiomyopathy 10 [RCV002541429]uncertain significance12110913295110913295Human3name , alternate_id
151845061CV1349761single nucleotide variantNM_000432.4(MYL2):c.394A>C (p.Lys132Gln)Hypertrophic cardiomyopathy 10 [RCV001936598]uncertain significance12110913104110913104Human1name , alternate_id
8688938CV136725single nucleotide variantNM_000432.4(MYL2):c.484G>A (p.Gly162Arg)Cardiomyopathy [RCV000627045]|Hypertrophic cardiomyopathy 10 [RCV000226326]|Hypertrophic cardiomyopathy [RCV000156897]|not provided [RCV000119380]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided12110911094110911094Human5name , alternate_id
151881934CV1371079single nucleotide variantNM_000432.4(MYL2):c.400G>T (p.Glu134Ter)Hypertrophic cardiomyopathy 10 [RCV001886628]uncertain significance12110913098110913098Human1name , alternate_id
151719890CV1396463single nucleotide variantNM_000432.4(MYL2):c.425T>C (p.Phe142Ser)Hypertrophic cardiomyopathy 10 [RCV001890925]|Hypertrophic cardiomyopathy [RCV004010778]uncertain significance12110911153110911153Human3name , alternate_id
151892870CV1411547single nucleotide variantNM_000432.4(MYL2):c.325G>T (p.Glu109Ter)Hypertrophic cardiomyopathy 10 [RCV001944563]|Hypertrophic cardiomyopathy [RCV004808141]uncertain significance12110913274110913274Human3name , alternate_id
151849934CV1465642single nucleotide variantNM_000432.4(MYL2):c.484G>T (p.Gly162Ter)Hypertrophic cardiomyopathy 10 [RCV002033031]uncertain significance12110911094110911094Human1name , alternate_id
151800267CV1494111single nucleotide variantNM_000432.4(MYL2):c.356T>A (p.Val119Asp)Hypertrophic cardiomyopathy 10 [RCV001952856]uncertain significance12110913142110913142Human1name , alternate_id
151769831CV1504063single nucleotide variantNM_000432.4(MYL2):c.496G>C (p.Asp166His)Hypertrophic cardiomyopathy 10 [RCV002045135]uncertain significance12110911082110911082Human1name , alternate_id
9690075CV175387single nucleotide variantNM_000432.4(MYL2):c.421G>A (p.Ala141Thr)Hypertrophic cardiomyopathy 10 [RCV000530339]|Primary dilated cardiomyopathy [RCV000852438]|not provided [RCV001555854]|not specified [RCV000155724]uncertain significance12110911157110911157Human2name , alternate_id
9689067CV175388single nucleotide variantNM_000432.4(MYL2):c.392C>G (p.Ser131Cys)not specified [RCV000154486]uncertain significance12110913106110913106Humanname
9691985CV175531single nucleotide variantNM_000432.4(MYL2):c.482A>G (p.His161Arg)Hypertrophic cardiomyopathy [RCV000151360]likely pathogenic12110911096110911096Human2name
9689041CV175532single nucleotide variantNM_000432.4(MYL2):c.428C>T (p.Pro143Leu)Cardiomyopathy, dilated, and heart failure [RCV005430503]|Cardiovascular phenotype [RCV002326880]|Hypertrophic cardiomyopathy 10 [RCV000763791]|Hypertrophic cardiomyopathy 10 [RCV002478451]|Hypertrophic cardiomyopathy [RCV003998250]|not specified [RCV000154458]uncertain significance12110911150110911150Human5name , alternate_id
9689157CV175533single nucleotide variantNM_000432.4(MYL2):c.402G>C (p.Glu134Asp)not specified [RCV000154594]uncertain significance12110913096110913096Humanname
9690817CV175534single nucleotide variantNM_000432.4(MYL2):c.389T>G (p.Phe130Cys)not specified [RCV000156509]uncertain significance12110913109110913109Humanname
155675509CV1779113single nucleotide variantNM_000432.4(MYL2):c.490G>A (p.Glu164Lys)Cardiovascular phenotype [RCV002346586]|Hypertrophic cardiomyopathy 10 [RCV002297899]uncertain significance12110911088110911088Human1name , alternate_id
155694808CV1788930single nucleotide variantNM_000432.4(MYL2):c.335G>A (p.Gly112Glu)Cardiomyopathy [RCV005403202]|Cardiovascular phenotype [RCV002321065]|Hypertrophic cardiomyopathy [RCV004808260]|not provided [RCV003389905]uncertain significance12110913264110913264Human4name
155716875CV1792041single nucleotide variantNM_000432.4(MYL2):c.328G>A (p.Gly110Ser)Cardiovascular phenotype [RCV002326148]uncertain significance12110913271110913271Humanname
9833338CV179421single nucleotide variantNM_000432.4(MYL2):c.496G>T (p.Asp166Tyr)not provided [RCV000158935]pathogenic|likely pathogenic12110911082110911082Humanname
9833323CV179422single nucleotide variantNM_000432.4(MYL2):c.488A>G (p.Glu163Gly)Hypertrophic cardiomyopathy 10 [RCV002515080]|not provided [RCV000158908]|not specified [RCV000223748]likely pathogenic|uncertain significance12110911090110911090Human1name , alternate_id
9833337CV179423single nucleotide variantNM_000432.4(MYL2):c.470A>G (p.His157Arg)Hypertrophic cardiomyopathy 10 [RCV001061872]|not provided [RCV000766481]|not specified [RCV000158933]uncertain significance12110911108110911108Human1name , alternate_id
9833336CV179424single nucleotide variantNM_000432.4(MYL2):c.358C>G (p.Arg120Gly)Cardiomyopathy [RCV001180082]|Cardiovascular phenotype [RCV003352788]|Hypertrophic cardiomyopathy 10 [RCV001063811]|Hypertrophic cardiomyopathy 10 [RCV002484988]|Hypertrophic cardiomyopathy [RCV003998376]|not provided [RCV000172053]likely pathogenic|uncertain significance12110913140110913140Human6name , alternate_id
9833322CV179425single nucleotide variantNM_000432.4(MYL2):c.355G>A (p.Val119Ile)Cardiomyopathy [RCV001170435]|Cardiovascular phenotype [RCV003298187]|Hypertrophic cardiomyopathy 10 [RCV001227375]|not provided [RCV000766479]|not specified [RCV000216431]likely benign|conflicting interpretations of pathogenicity|uncertain significance12110913143110913143Human3name , alternate_id
9833335CV179426single nucleotide variantNM_000432.4(MYL2):c.308T>G (p.Phe103Cys)Cardiomyopathy [RCV001184261]|Cardiovascular phenotype [RCV002321668]|Hypertrophic cardiomyopathy 10 [RCV001086360]|Hypertrophic cardiomyopathy [RCV003998375]|not provided [RCV000172054]|not specified [RCV004017443]likely benign|conflicting interpretations of pathogenicity|uncertain significance12110913291110913291Human5name , alternate_id
155704035CV1798048single nucleotide variantNM_000432.4(MYL2):c.442G>A (p.Gly148Ser)Cardiovascular phenotype [RCV002333965]uncertain significance12110911136110911136Humanname
155729214CV1808345single nucleotide variantNM_000432.4(MYL2):c.448T>G (p.Leu150Val)Cardiovascular phenotype [RCV002328619]uncertain significance12110911130110911130Humanname
155719045CV1809045single nucleotide variantNM_000432.4(MYL2):c.476T>C (p.Ile159Thr)Cardiovascular phenotype [RCV002337726]|Hypertrophic cardiomyopathy 10 [RCV003096459]uncertain significance12110911102110911102Human1name , alternate_id
155975993CV1886022single nucleotide variantNM_000432.4(MYL2):c.403G>T (p.Val135Phe)Hypertrophic cardiomyopathy 10 [RCV003075417]|Hypertrophic cardiomyopathy [RCV004808414]uncertain significance12110911175110911175Human3name , alternate_id
156285106CV1897060single nucleotide variantNM_000432.4(MYL2):c.431C>T (p.Pro144Leu)Hypertrophic cardiomyopathy 10 [RCV003087256]|Hypertrophic cardiomyopathy [RCV004009432]uncertain significance12110911147110911147Human3name , alternate_id
10046375CV189892single nucleotide variantNM_000432.4(MYL2):c.433G>A (p.Asp145Asn)Arrhythmogenic right ventricular cardiomyopathy [RCV000852437]|Cardiomyopathy [RCV001191379]|Cardiovascular phenotype [RCV002326947]|Hypertrophic cardiomyopathy 10 [RCV000795137]|Hypertrophic cardiomyopathy [RCV003995672]|not provided [RCV000172052]|not specified [RCV003323424]uncertain significance12110911145110911145Human6name , alternate_id
155968931CV1968038single nucleotide variantNM_000432.4(MYL2):c.419C>T (p.Ala140Val)Hypertrophic cardiomyopathy 10 [RCV002617089]uncertain significance12110911159110911159Human1name , alternate_id
156339471CV1973997single nucleotide variantNM_000432.4(MYL2):c.409C>T (p.Gln137Ter)Hypertrophic cardiomyopathy 10 [RCV002601203]uncertain significance12110911169110911169Human1name , alternate_id
156047668CV1996667single nucleotide variantNM_000432.4(MYL2):c.389T>A (p.Phe130Tyr)Hypertrophic cardiomyopathy 10 [RCV002659260]uncertain significance12110913109110913109Human1name , alternate_id
156247198CV2044782single nucleotide variantNM_000432.4(MYL2):c.391T>A (p.Ser131Thr)Cardiomyopathy [RCV003533300]|Hypertrophic cardiomyopathy 10 [RCV002805883]uncertain significance12110913107110913107Human3name , alternate_id
156284166CV2051648single nucleotide variantNM_000432.4(MYL2):c.493A>G (p.Lys165Glu)Hypertrophic cardiomyopathy 10 [RCV002832945]uncertain significance12110911085110911085Human1name , alternate_id
155938434CV2135199single nucleotide variantNM_000432.4(MYL2):c.424T>A (p.Phe142Ile)Hypertrophic cardiomyopathy 10 [RCV002993891]|Hypertrophic cardiomyopathy [RCV004007743]uncertain significance12110911154110911154Human3name , alternate_id
156300838CV2146128single nucleotide variantNM_000432.4(MYL2):c.436G>C (p.Val146Leu)Hypertrophic cardiomyopathy 10 [RCV003010376]uncertain significance12110911142110911142Human1name , alternate_id
156020294CV2270246single nucleotide variantNM_000432.4(MYL2):c.476T>G (p.Ile159Ser)Cardiovascular phenotype [RCV004135465]uncertain significance12110911102110911102Humanname
243059093CV2416145single nucleotide variantNM_000432.4(MYL2):c.455A>G (p.Tyr152Cys)not provided [RCV003149205]uncertain significance12110911123110911123Humanname
11547461CV258711single nucleotide variantNM_000432.4(MYL2):c.483C>A (p.His161Gln)Cardiovascular phenotype [RCV000247783]|Hypertrophic cardiomyopathy 10 [RCV001209885]|not provided [RCV001726080]pathogenic|uncertain significance12110911095110911095Human1name , alternate_id
329955212CV2671153single nucleotide variantNM_000432.4(MYL2):c.359G>C (p.Arg120Pro)not specified [RCV003236426]uncertain significance12110913139110913139Humanname
401718651CV2732826single nucleotide variantNM_000432.4(MYL2):c.298C>T (p.Leu100Phe)Cardiovascular phenotype [RCV003311103]uncertain significance12110913301110913301Humanname
401870360CV2749351single nucleotide variantNM_000432.4(MYL2):c.454T>C (p.Tyr152His)not provided [RCV003332479]uncertain significance12110911124110911124Humanname
401855307CV2753833single nucleotide variantNM_000432.4(MYL2):c.479C>A (p.Thr160Asn)Cardiovascular phenotype [RCV003339196]uncertain significance12110911099110911099Humanname
401943426CV2840039single nucleotide variantNM_000432.4(MYL2):c.421G>T (p.Ala141Ser)not provided [RCV003456826]uncertain significance12110911157110911157Humanname
402507571CV3044083single nucleotide variantNM_000432.4(MYL2):c.426C>A (p.Phe142Leu)Hypertrophic cardiomyopathy 10 [RCV003628971]uncertain significance12110911152110911152Human1name , alternate_id
402518053CV3076909single nucleotide variantNM_000432.4(MYL2):c.337G>T (p.Val113Leu)Hypertrophic cardiomyopathy 10 [RCV003630007]uncertain significance12110913262110913262Human1name , alternate_id
405716907CV3230726single nucleotide variantNM_000432.4(MYL2):c.419C>A (p.Ala140Asp)Hypertrophic cardiomyopathy [RCV004012312]uncertain significance12110911159110911159Human2name
405727742CV3230923single nucleotide variantNM_000432.4(MYL2):c.457A>G (p.Lys153Glu)Hypertrophic cardiomyopathy [RCV004013504]uncertain significance12110911121110911121Human2name
405721929CV3231882single nucleotide variantNM_000432.4(MYL2):c.406G>A (p.Asp136Asn)Hypertrophic cardiomyopathy [RCV004012904]uncertain significance12110911172110911172Human2name
405703564CV3233541single nucleotide variantNM_000432.4(MYL2):c.395A>T (p.Lys132Met)Hypertrophic cardiomyopathy [RCV004009998]uncertain significance12110913103110913103Human2name
405749311CV3233789single nucleotide variantNM_000432.4(MYL2):c.437T>C (p.Val146Ala)Hypertrophic cardiomyopathy [RCV004016017]uncertain significance12110911141110911141Human2name
405743676CV3234295single nucleotide variantNM_000432.4(MYL2):c.311A>G (p.Lys104Arg)Hypertrophic cardiomyopathy [RCV004015353]uncertain significance12110913288110913288Human2name
11647836CV330565single nucleotide variantNM_000432.4(MYL2):c.302A>G (p.Asn101Ser)Cardiomyopathy [RCV001181051]|Hypertrophic cardiomyopathy 10 [RCV000278835]uncertain significance12110913297110913297Human3name , alternate_id
405686475CV3388887single nucleotide variantNM_000432.4(MYL2):c.352T>A (p.Tyr118Asn)Cardiovascular phenotype [RCV004518443]uncertain significance12110913247110913247Humanname
597917594CV3767875single nucleotide variantNM_000432.4(MYL2):c.450G>T (p.Leu150Phe)Hypertrophic cardiomyopathy 10 [RCV005114676]uncertain significance12110911128110911128Human1name , alternate_id
597869566CV3771896single nucleotide variantNM_000432.4(MYL2):c.483C>G (p.His161Gln)Hypertrophic cardiomyopathy 10 [RCV005122406]uncertain significance12110911095110911095Human1name , alternate_id
597914395CV3778877single nucleotide variantNM_000432.4(MYL2):c.382G>A (p.Glu128Lys)Hypertrophic cardiomyopathy 10 [RCV005129222]uncertain significance12110913116110913116Human1name , alternate_id
597910567CV3782153single nucleotide variantNM_000432.4(MYL2):c.353A>C (p.Tyr118Ser)Hypertrophic cardiomyopathy 10 [RCV005128646]uncertain significance12110913246110913246Human1name , alternate_id
597970718CV3802060single nucleotide variantNM_000432.4(MYL2):c.337G>C (p.Val113Leu)Hypertrophic cardiomyopathy 10 [RCV005141852]uncertain significance12110913262110913262Human1name , alternate_id
597896338CV3854047single nucleotide variantNM_000432.4(MYL2):c.394A>G (p.Lys132Glu)Hypertrophic cardiomyopathy 10 [RCV005201331]uncertain significance12110913104110913104Human1name , alternate_id
597900673CV3855088single nucleotide variantNM_000432.4(MYL2):c.491A>T (p.Glu164Val)Hypertrophic cardiomyopathy 10 [RCV005201996]uncertain significance12110911087110911087Human1name , alternate_id
12892497CV398437single nucleotide variantNM_000432.4(MYL2):c.430C>A (p.Pro144Thr)Hypertrophic cardiomyopathy 10 [RCV000473250]|Hypertrophic cardiomyopathy [RCV004000800]uncertain significance12110911148110911148Human3name , alternate_id
12883325CV398957single nucleotide variantNM_000432.4(MYL2):c.380C>T (p.Ala127Val)Cardiomyopathy [RCV005402923]|Cardiovascular phenotype [RCV003298489]|Hypertrophic cardiomyopathy 10 [RCV000461391]|Hypertrophic cardiomyopathy [RCV004000801]|not provided [RCV002466505]uncertain significance12110913118110913118Human5name , alternate_id
598190112CV3994053single nucleotide variantNM_000432.4(MYL2):c.341T>C (p.Leu114Pro)Cardiovascular phenotype [RCV005373991]uncertain significance12110913258110913258Humanname
598273632CV3994054single nucleotide variantNM_000432.4(MYL2):c.349G>A (p.Asp117Asn)Cardiovascular phenotype [RCV005389755]uncertain significance12110913250110913250Humanname
616934597CV4009702single nucleotide variantNM_000432.4(MYL2):c.428C>G (p.Pro143Arg)Cardiomyopathy [RCV005400860]uncertain significance12110911150110911150Human2name
8602575CV40429single nucleotide variantNM_000432.4(MYL2):c.497A>T (p.Asp166Val)Cardiovascular phenotype [RCV005403722]|Hypertrophic cardiomyopathy 10 [RCV001852571]|not provided [RCV000024460]pathogenic|likely pathogenic|uncertain significance|not provided12110911081110911081Human1name , alternate_id
8602576CV40430single nucleotide variantNM_000432.4(MYL2):c.310A>G (p.Lys104Glu)Cardiomyopathy [RCV003531906]|Hypertrophic cardiomyopathy 10 [RCV001852572]|not provided [RCV000024461]uncertain significance|not provided12110913289110913289Human3name , alternate_id
12898866CV408523single nucleotide variantNM_000432.4(MYL2):c.376C>G (p.Gln126Glu)Cardiomyopathy [RCV001170434]|Hypertrophic cardiomyopathy 10 [RCV001064739]|Hypertrophic cardiomyopathy 10 [RCV002481532]|not provided [RCV000478881]uncertain significance12110913122110913122Human3name , alternate_id
13208193CV424565single nucleotide variantNM_000432.4(MYL2):c.487G>C (p.Glu163Gln)Hypertrophic cardiomyopathy 10 [RCV000496070]uncertain significance12110911091110911091Human1name , alternate_id
13481321CV444913single nucleotide variantNM_000432.4(MYL2):c.366G>T (p.Met122Ile)Cardiovascular phenotype [RCV002456008]|Hypertrophic cardiomyopathy 10 [RCV005004213]|Hypertrophic cardiomyopathy [RCV004003615]|not provided [RCV000521473]uncertain significance12110913132110913132Human4name , alternate_id
8602990CV45307single nucleotide variantNM_000432.4(MYL2):c.359G>A (p.Arg120Gln)Cardiomyopathy [RCV001185060]|Cardiovascular phenotype [RCV000618181]|Hypertrophic cardiomyopathy 10 [RCV000228967]|Hypertrophic cardiomyopathy 10 [RCV002482922]|Hypertrophic cardiomyopathy [RCV003996131]|Primary familial hypertrophic cardiomyopathy [RCV000030324]|not provided [RCV000994981]|not spelikely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance12110913139110913139Human8name , alternate_id
13470804CV462414single nucleotide variantNM_000432.4(MYL2):c.322C>T (p.Pro108Ser)Hypertrophic cardiomyopathy 10 [RCV000546425]uncertain significance12110913277110913277Human1name , alternate_id
13525765CV511108single nucleotide variantNM_000432.4(MYL2):c.436G>A (p.Val146Met)Cardiomyopathy [RCV001180587]|Cardiovascular phenotype [RCV002331095]|Congenital heart disease [RCV001568357]|Hypertrophic cardiomyopathy 10 [RCV001855290]|Hypertrophic cardiomyopathy [RCV004002748]|Primary familial hypertrophic cardiomyopathy [RCV000623019]|not specified [RCV004702202]pathogenic|uncertain significance12110911142110911142Human8name , alternate_id
8606288CV52635single nucleotide variantNM_000432.4(MYL2):c.313G>A (p.Val105Met)Hypertrophic cardiomyopathy 10 [RCV003514305]|Hypertrophic cardiomyopathy [RCV003996222]|not specified [RCV000036391]uncertain significance12110913286110913286Human3name , alternate_id
8606294CV52641single nucleotide variantNM_000432.4(MYL2):c.358C>T (p.Arg120Trp)Cardiomyopathy [RCV000770393]|Hypertrophic cardiomyopathy 10 [RCV001056367]|Hypertrophic cardiomyopathy [RCV003996226]|not provided [RCV003133123]|not specified [RCV000036397]likely pathogenic|uncertain significance12110913140110913140Human5name , alternate_id
8606296CV52643single nucleotide variantNM_000432.4(MYL2):c.374C>T (p.Thr125Met)Cardiomyopathy [RCV000157370]|Cardiovascular phenotype [RCV003362671]|Hypertrophic cardiomyopathy 10 [RCV001238992]|Hypertrophic cardiomyopathy [RCV003996227]|not provided [RCV000766480]|not specified [RCV000036400]likely pathogenic|uncertain significance12110913124110913124Human5name , alternate_id
8606298CV52645single nucleotide variantNM_000432.4(MYL2):c.401A>C (p.Glu134Ala)Cardiomyopathy [RCV000776290]|Cardiovascular phenotype [RCV000248445]|Dilated cardiomyopathy 1S [RCV000491626]|Hypertrophic cardiomyopathy 10 [RCV000154179]|Hypertrophic cardiomyopathy 10 [RCV005003430]|Hypertrophic cardiomyopathy [RCV000036404]|Primary dilated cardiomyopathy [RCV000678725]|not provlikely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided12110913097110913097Human8name , alternate_id
8606301CV52648single nucleotide variantNM_000432.4(MYL2):c.459G>C (p.Lys153Asn)Cardiomyopathy [RCV001189706]|Cardiovascular phenotype [RCV003162315]|Hypertrophic cardiomyopathy 10 [RCV000544363]|Hypertrophic cardiomyopathy [RCV003996229]|not provided [RCV001552678]|not specified [RCV000036407]uncertain significance12110911119110911119Human5name , alternate_id
8606302CV52649single nucleotide variantNM_000432.4(MYL2):c.485G>A (p.Gly162Glu)Cardiomyopathy [RCV003486556]|Hypertrophic cardiomyopathy [RCV000036408]pathogenic|likely pathogenic|uncertain significance12110911093110911093Human4name
8606303CV52650single nucleotide variantNM_000432.4(MYL2):c.488A>C (p.Glu163Ala)Hypertrophic cardiomyopathy 10 [RCV000639678]|Hypertrophic cardiomyopathy [RCV000036409]|not specified [RCV001193582]likely pathogenic|uncertain significance12110911090110911090Human3name , alternate_id
13607746CV526918single nucleotide variantNM_000432.4(MYL2):c.374C>A (p.Thr125Lys)Hypertrophic cardiomyopathy 10 [RCV000639676]uncertain significance12110913124110913124Human1name , alternate_id
13607744CV527233single nucleotide variantNM_000432.4(MYL2):c.427C>A (p.Pro143Thr)Hypertrophic cardiomyopathy 10 [RCV000639675]|not provided [RCV002223234]uncertain significance12110911151110911151Human1name , alternate_id
13607740CV527238single nucleotide variantNM_000432.4(MYL2):c.418G>A (p.Ala140Thr)Cardiovascular phenotype [RCV004639300]|Hypertrophic cardiomyopathy 10 [RCV000639672]|Hypertrophic cardiomyopathy [RCV004003898]likely benign|uncertain significance12110911160110911160Human3name , alternate_id
13811022CV567664single nucleotide variantNM_000432.4(MYL2):c.347C>T (p.Ala116Val)Cardiomyopathy [RCV001190452]|Cardiovascular phenotype [RCV002334270]|Hypertrophic cardiomyopathy 10 [RCV000688527]|Hypertrophic cardiomyopathy [RCV004004283]|not provided [RCV001775958]uncertain significance12110913252110913252Human5name , alternate_id
14689036CV615034single nucleotide variantNM_000432.4(MYL2):c.435C>G (p.Asp145Glu)Cardiomyopathy [RCV000770389]|Hypertrophic cardiomyopathy [RCV003999940]uncertain significance12110911143110911143Human4name
14689040CV615037single nucleotide variantNM_000432.4(MYL2):c.304G>A (p.Ala102Thr)Cardiomyopathy [RCV000770394]|Cardiovascular phenotype [RCV002442576]|Hypertrophic cardiomyopathy 10 [RCV002536609]|not provided [RCV004588167]uncertain significance12110913295110913295Human3name , alternate_id
14691923CV617889single nucleotide variantNM_000432.4(MYL2):c.430C>G (p.Pro144Ala)Cardiomyopathy [RCV000772853]|Cardiovascular phenotype [RCV004027244]|Hypertrophic cardiomyopathy 10 [RCV000809944]|Hypertrophic cardiomyopathy [RCV003999989]uncertain significance12110911148110911148Human5name , alternate_id
14731172CV640634single nucleotide variantNM_000432.4(MYL2):c.469C>T (p.His157Tyr)Cardiovascular phenotype [RCV002332690]|Hypertrophic cardiomyopathy 10 [RCV000817717]|not provided [RCV003226983]|not specified [RCV005056598]uncertain significance12110911109110911109Human1name , alternate_id
26915496CV839314single nucleotide variantNM_000432.4(MYL2):c.431C>G (p.Pro144Arg)Cardiovascular phenotype [RCV004649405]|Hypertrophic cardiomyopathy 10 [RCV001039065]|not provided [RCV001597243]uncertain significance12110911147110911147Human1name , alternate_id
26896850CV839315single nucleotide variantNM_000432.4(MYL2):c.431C>A (p.Pro144His)Cardiomyopathy [RCV003532371]|Hypertrophic cardiomyopathy 10 [RCV001064899]uncertain significance12110911147110911147Human3name , alternate_id
26917842CV839316single nucleotide variantNM_000432.4(MYL2):c.413T>A (p.Met138Lys)Cardiomyopathy [RCV001189350]|Hypertrophic cardiomyopathy 10 [RCV001042334]|Hypertrophic cardiomyopathy [RCV004004747]|not provided [RCV003117716]uncertain significance12110911165110911165Human5name , alternate_id
26890955CV839317single nucleotide variantNM_000432.4(MYL2):c.305C>T (p.Ala102Val)Cardiovascular phenotype [RCV002445313]|Hypertrophic cardiomyopathy 10 [RCV001059953]uncertain significance12110913294110913294Human1name , alternate_id
28873244CV869285single nucleotide variantNM_000432.4(MYL2):c.359G>T (p.Arg120Leu)Hypertrophic cardiomyopathy 10 [RCV001114909]uncertain significance12110913139110913139Human1name , alternate_id
34888787CV911891single nucleotide variantNM_000432.4(MYL2):c.475A>G (p.Ile159Val)Cardiomyopathy [RCV001181002]|Hypertrophic cardiomyopathy 10 [RCV001876013]uncertain significance12110911103110911103Human3name , alternate_id
34899128CV911893single nucleotide variantNM_000432.4(MYL2):c.472A>G (p.Ile158Val)Cardiomyopathy [RCV001187825]|Hypertrophic cardiomyopathy 10 [RCV001367322]uncertain significance12110911106110911106Human3name , alternate_id
34898998CV911896single nucleotide variantNM_000432.4(MYL2):c.449T>C (p.Leu150Ser)Cardiomyopathy [RCV001187726]uncertain significance12110911129110911129Human2name
34898423CV911899single nucleotide variantNM_000432.4(MYL2):c.433G>T (p.Asp145Tyr)Cardiomyopathy [RCV001187215]uncertain significance12110911145110911145Human2name
34895085CV911900single nucleotide variantNM_000432.4(MYL2):c.430C>T (p.Pro144Ser)Cardiomyopathy [RCV001177828]|Cardiovascular phenotype [RCV005384957]|Hypertrophic cardiomyopathy 10 [RCV003629152]|Hypertrophic cardiomyopathy [RCV004006417]|not provided [RCV001760129]uncertain significance12110911148110911148Human5name , alternate_id
34890217CV911901single nucleotide variantNM_000432.4(MYL2):c.341T>G (p.Leu114Arg)Cardiomyopathy [RCV001181966]uncertain significance12110913258110913258Human2name
34889453CV911902single nucleotide variantNM_000432.4(MYL2):c.310A>C (p.Lys104Gln)Cardiomyopathy [RCV001181462]uncertain significance12110913289110913289Human2name
34899460CV911905single nucleotide variantNM_000432.4(MYL2):c.298C>G (p.Leu100Val)Cardiomyopathy [RCV001188416]|Hypertrophic cardiomyopathy 10 [RCV002068502]|Hypertrophic cardiomyopathy [RCV004010286]likely benign|uncertain significance12110913301110913301Human5name , alternate_id
38489419CV926465single nucleotide variantNM_000432.4(MYL2):c.479C>G (p.Thr160Ser)Cardiovascular phenotype [RCV002339586]|Hypertrophic cardiomyopathy 10 [RCV001221689]|not provided [RCV001563131]uncertain significance12110911099110911099Human1name , alternate_id
38473850CV926466deletionNM_000432.4(MYL2):c.51_61del (p.Phe18fs)Hypertrophic cardiomyopathy 10 [RCV001214509]|Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy [RCV005208158]|not provided [RCV001780132]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance12110919136110919146Human2name , alternate_id
38488828CV935918single nucleotide variantNM_000432.4(MYL2):c.497A>C (p.Asp166Ala)Hypertrophic cardiomyopathy 10 [RCV001209931]uncertain significance12110911081110911081Human1name , alternate_id
38467724CV935919single nucleotide variantNM_000432.4(MYL2):c.422C>A (p.Ala141Asp)Cardiomyopathy [RCV001806050]|Hypertrophic cardiomyopathy 10 [RCV001213004]uncertain significance12110911156110911156Human3name , alternate_id
151790716CV1515385deletionNM_000432.4(MYL2):c.197_203del (p.Ile66fs)Hypertrophic cardiomyopathy 10 [RCV002027195]uncertain significance12110914257110914263Human1name , alternate_id
151783405CV1432780deletionNM_000432.4(MYL2):c.316_319del (p.Phe106fs)Cardiomyopathy [RCV003533068]|Hypertrophic cardiomyopathy 10 [RCV001972290]uncertain significance12110913280110913283Human3name , alternate_id
13816148CV565053microsatelliteNM_000432.4(MYL2):c.473TCA[3] (p.Ile159dup)Hypertrophic cardiomyopathy 10 [RCV000706166]uncertain significance12110911099110911100Humanname , alternate_id
14689035CV615033microsatelliteNM_000432.4(MYL2):c.491_495del (p.Glu164fs)Cardiomyopathy [RCV000770388]likely pathogenic12110911083110911087Humanname
14689038CV615035deletionNM_000432.4(MYL2):c.431_432del (p.Pro144fs)Cardiomyopathy [RCV000770390]|Cardiovascular phenotype [RCV003166034]|Congenital myopathy with fiber type disproportion [RCV001507317]|Hypertrophic cardiomyopathy 10 [RCV001089865]|Hypertrophic cardiomyopathy [RCV003999941]|Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy [RCV0015537pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance12110911146110911147Human8name , alternate_id
34898899CV911903deletionNM_000432.4(MYL2):c.299_309del (p.Leu100fs)Cardiomyopathy [RCV001187629]|Cardiovascular phenotype [RCV003284028]|Hypertrophic cardiomyopathy 10 [RCV001876197]uncertain significance12110913290110913300Human3name , alternate_id
9688937CV175538indelNM_000432.4(MYL2):c.45_46delinsT (p.Asn16fs)Hypertrophic cardiomyopathy 10 [RCV003514314]|not specified [RCV000154326]likely benign|uncertain significance12110919151110919152Humanname , alternate_id
155739607CV1799099deletionNM_000432.4(MYL2):c.493_495del (p.Lys165del)Cardiovascular phenotype [RCV002342634]uncertain significance12110911083110911085Humanname
155794915CV1861193deletionNM_000432.4(MYL2):c.485_487del (p.Gly162del)Hypertrophic cardiomyopathy [RCV002468910]likely pathogenic12110911091110911093Human2name
156373903CV2190763duplicationNM_000432.4(MYL2):c.341_348dup (p.Asp117Ter)Hypertrophic cardiomyopathy 10 [RCV003049937]uncertain significance12110913250110913251Human1name , alternate_id
34895362CV911897insertionNM_000432.4(MYL2):c.441_442insTCACT (p.Gly148fs)Cardiomyopathy [RCV001178042]uncertain significance12110911136110911137Human2name
596943109CV3546503insertionNM_000432.4(MYL2):c.396_397insTCA (p.Lys132_Glu133insSer)Hypertrophic cardiomyopathy [RCV004807627]uncertain significance12110913101110913102Human2name
405702056CV3233311insertionNM_000432.4(MYL2):c.425_426insTGGTCAACA (p.Phe142_Pro143insGlyGlnHis)Hypertrophic cardiomyopathy [RCV004009767]uncertain significance12110911152110911153Human2name
596943108CV3546502insertionNM_000432.4(MYL2):c.399_400insTCTCACTCT (p.Glu133_Glu134insSerHisSer)Hypertrophic cardiomyopathy [RCV004807626]uncertain significance12110913098110913099Human2name
596943111CV3546504insertionNM_000432.4(MYL2):c.395_396insAGTGCTAGGATTACAGGTGTGAGCCAACATGCCCGTCCTTTTTTTTTTTTTTTGA (p.Lys132_Glu133insValLeuGlyLeuGlnValTer)Hypertrophic cardiomyopathy [RCV004807628]uncertain significance12110913102110913103Human2name
126768427CV1022329deletionNC_000012.11:g.(?_111348861)_(111348999_?)delHypertrophic cardiomyopathy 10 [RCV001343350]uncertain significanceHuman1alternate_id
156441171CV1949309deletionNC_000012.11:g.(?_111348881)_(111358333_?)delHypertrophic cardiomyopathy 10 [RCV003111222]uncertain significanceHuman1alternate_id
156441172CV1949310deletionNC_000012.11:g.(?_111356888)_(111358333_?)delHypertrophic cardiomyopathy 10 [RCV003111223]uncertain significanceHuman1alternate_id
156441173CV1949311duplicationNC_000012.11:g.(?_111348881)_(111358333_?)dupHypertrophic cardiomyopathy 10 [RCV003111224]uncertain significanceHuman1alternate_id
156441174CV1949312duplicationNC_000012.11:g.(?_111350880)_(111352114_?)dupHypertrophic cardiomyopathy 10 [RCV003111225]uncertain significanceHuman1alternate_id
12887523CV398419deletionNC_000012.12:g.(?_110910819)_(110911175_?)delHypertrophic cardiomyopathy 10 [RCV000469216]pathogenic12110910819110911175Human1alternate_id