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460 records found for search term Myl3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
9690990CV173797single nucleotide variantNM_000258.3(MYL3):c.*5C>TCardiomyopathy [RCV001179114]|Hypertrophic cardiomyopathy 8 [RCV001148454]|not specified [RCV000156688]benign|uncertain significance34685823946858239Human3name , alternate_id
9693494CV173937single nucleotide variantNM_000258.3(MYL3):c.*9C>TMYL3-related disorder [RCV003917515]|not specified [RCV000154779]benign|likely benign|conflicting interpretations of pathogenicity|not provided34685823546858235Human1name , trait , alternate_id
405704986CV3231583single nucleotide variantNM_000258.3(MYL3):c.-6C>THypertrophic cardiomyopathy [RCV004010126]uncertain significance34686339646863396Human2name
405712501CV3231849single nucleotide variantNM_000258.3(MYL3):c.*1A>CHypertrophic cardiomyopathy [RCV004011879]uncertain significance34685824346858243Human2name
596943122CV3546510single nucleotide variantNM_000258.3(MYL3):c.*5C>GHypertrophic cardiomyopathy [RCV004807634]uncertain significance34685823946858239Human2name
34899205CV909648single nucleotide variantNM_000258.3(MYL3):c.*6G>ACardiomyopathy [RCV001187982]uncertain significance34685823846858238Human2name
34890941CV909649single nucleotide variantNM_000258.3(MYL3):c.*3C>TCardiomyopathy [RCV001182310]|Hypertrophic cardiomyopathy [RCV004008289]benign34685824146858241Human4name
8688937CV136724single nucleotide variantNM_000258.3(MYL3):c.*27G>Anot provided [RCV000119377]|not specified [RCV000422445]likely benign|not provided34685808846858088Humanname
8692139CV142105single nucleotide variantNM_000258.3(MYL3):c.-27C>Tnot specified [RCV000127036]benign34686341746863417Humanname
155267373CV1699580single nucleotide variantNM_000258.3(MYL3):c.-15T>ACardiomyopathy [RCV003533155]|not specified [RCV002283373]uncertain significance34686340546863405Human2name
155804250CV1866688single nucleotide variantNM_000258.3(MYL3):c.*13G>AHypertrophic cardiomyopathy 8 [RCV002496213]uncertain significance34685823146858231Human1name , alternate_id
11587850CV295253single nucleotide variantNM_000258.3(MYL3):c.*89G>AHypertrophic cardiomyopathy 8 [RCV000298114]|not provided [RCV001636964]benign|likely benign34685802646858026Human1name , alternate_id
11590936CV295257single nucleotide variantNM_000258.2(MYL3):c.-90C>THypertrophic cardiomyopathy 8 [RCV000324050]|not provided [RCV001672631]benign|likely benign|uncertain significance34686348046863480Human1name , alternate_id
28882891CV889128single nucleotide variantNM_000258.3(MYL3):c.-33T>CHypertrophic cardiomyopathy 8 [RCV001150032]uncertain significance34686342346863423Human1name , alternate_id
11647358CV291660single nucleotide variantNM_000258.3(MYL3):c.*205C>AHypertrophic cardiomyopathy [RCV000276123]uncertain significance34685791046857910Human2name
14741362CV660196single nucleotide variantNM_000258.2(MYL3):c.-377G>Anot provided [RCV000840753]likely benign34686376746863767Humanname
28871133CV889125single nucleotide variantNM_000258.3(MYL3):c.*140C>THypertrophic cardiomyopathy 8 [RCV001145694]uncertain significance34685797546857975Human1name , alternate_id
28871135CV889126single nucleotide variantNM_000258.3(MYL3):c.*112C>AHypertrophic cardiomyopathy 8 [RCV001145695]uncertain significance34685800346858003Human1name , alternate_id
126742563CV1004789single nucleotide variantNM_000258.3(MYL3):c.130-1G>AHypertrophic cardiomyopathy [RCV001325501]uncertain significance34686098846860988Human2name
127246108CV1092510single nucleotide variantNM_000258.3(MYL3):c.308-9T>CHypertrophic cardiomyopathy [RCV001424463]likely benign34685965746859657Human2name
127323279CV1160514single nucleotide variantNM_000258.3(MYL3):c.158-8C>TCardiomyopathy [RCV001523958]likely benign34686083346860833Human2name
150436144CV1274511deletionNM_000258.3(MYL3):c.158-4delnot provided [RCV001724402]|not specified [RCV001699693]benign|likely benign34686082946860829Humanname
151350951CV1323203single nucleotide variantNM_000258.3(MYL3):c.307+3A>GCardiomyopathy [RCV001805531]|Hypertrophic cardiomyopathy [RCV003772246]uncertain significance34686067346860673Human4name
8688948CV136735single nucleotide variantNM_000258.3(MYL3):c.482-2A>Gnot provided [RCV000119397]not provided34685846346858463Humanname
151794132CV1420532single nucleotide variantNM_000258.3(MYL3):c.157+1G>AHypertrophic cardiomyopathy 8 [RCV002246660]|Hypertrophic cardiomyopathy [RCV002027494]pathogenic|uncertain significance34686095946860959Human3name , alternate_id
151722557CV1422025single nucleotide variantNM_000258.3(MYL3):c.560-1G>CHypertrophic cardiomyopathy [RCV001909942]uncertain significance34685827346858273Human2name
151870481CV1466507single nucleotide variantNM_000258.3(MYL3):c.158-2A>GHypertrophic cardiomyopathy 8 [RCV002490208]|Hypertrophic cardiomyopathy [RCV001906412]uncertain significance34686082746860827Human3name , alternate_id
151865406CV1495100deletionNM_000258.3(MYL3):c.157+6delHypertrophic cardiomyopathy [RCV001980654]uncertain significance34686095446860954Human2name
9691990CV173938single nucleotide variantNM_000258.3(MYL3):c.482-1G>Anot specified [RCV000151368]uncertain significance34685846246858462Humanname
9832446CV178528single nucleotide variantNM_000258.3(MYL3):c.482-6T>CPrimary familial hypertrophic cardiomyopathy [RCV000157373]uncertain significance34685846746858467Human1name
156197450CV1885917single nucleotide variantNM_000258.3(MYL3):c.157+9G>CHypertrophic cardiomyopathy [RCV003084090]likely benign34686095146860951Human2name
155973749CV1889733single nucleotide variantNM_000258.3(MYL3):c.307+4G>CHypertrophic cardiomyopathy [RCV003075305]uncertain significance34686067246860672Human2name
156090355CV1963102single nucleotide variantNM_000258.3(MYL3):c.560-7T>CHypertrophic cardiomyopathy [RCV002570201]likely benign34685827946858279Human2name
156004787CV2054241single nucleotide variantNM_000258.3(MYL3):c.158-3C>AHypertrophic cardiomyopathy [RCV002819828]uncertain significance34686082846860828Human2name
156330765CV2065308single nucleotide variantNM_000258.3(MYL3):c.559+2T>CHypertrophic cardiomyopathy [RCV002835286]uncertain significance34685838246858382Human2name
11040084CV224281single nucleotide variantNM_000258.3(MYL3):c.560-3C>TPrimary familial hypertrophic cardiomyopathy [RCV000208325]uncertain significance34685827546858275Human1name
405168513CV2898030single nucleotide variantNM_000258.3(MYL3):c.481+4A>GHypertrophic cardiomyopathy [RCV003587374]uncertain significance34685947146859471Human2name
404985445CV2934720single nucleotide variantNM_000258.3(MYL3):c.307+4G>TCardiomyopathy [RCV003532750]|Hypertrophic cardiomyopathy [RCV003748509]uncertain significance34686067246860672Human4name
11593865CV295255single nucleotide variantNM_000258.3(MYL3):c.*13+5G>CCardiomyopathy [RCV001798794]|Hypertrophic cardiomyopathy 8 [RCV000352971]|not provided [RCV001726137]|not specified [RCV000616135]likely benign|uncertain significance34685822646858226Human3name , alternate_id
405715336CV3232374deletionNM_000258.3(MYL3):c.307+4delHypertrophic cardiomyopathy [RCV004012227]uncertain significance34686067246860672Human2name
407504441CV3454542single nucleotide variantNM_000258.3(MYL3):c.307+2T>CCardiovascular phenotype [RCV004645816]uncertain significance34686067446860674Humanname
596943129CV3546514single nucleotide variantNM_000258.3(MYL3):c.307+5T>GHypertrophic cardiomyopathy [RCV004807638]uncertain significance34686067146860671Human2name
596943142CV3546521single nucleotide variantNM_000258.3(MYL3):c.158-2A>CHypertrophic cardiomyopathy [RCV004807645]uncertain significance34686082746860827Human2name
12844644CV367628single nucleotide variantNM_000258.3(MYL3):c.157+8G>CHypertrophic cardiomyopathy [RCV000863716]|not specified [RCV000438357]benign|likely benign34686095246860952Human2name
597928131CV3749097single nucleotide variantNM_000258.3(MYL3):c.129+5G>THypertrophic cardiomyopathy [RCV005075553]uncertain significance34686325746863257Human2name
597929235CV3816047single nucleotide variantNM_000258.3(MYL3):c.559+1G>THypertrophic cardiomyopathy [RCV005156628]uncertain significance34685838346858383Human2name
597967979CV3820796single nucleotide variantNM_000258.3(MYL3):c.559+8C>THypertrophic cardiomyopathy [RCV005165637]likely benign34685837646858376Human2name
597835953CV3828329single nucleotide variantNM_000258.3(MYL3):c.158-4G>THypertrophic cardiomyopathy [RCV005171221]likely benign34686082946860829Human2name
597905232CV3846496single nucleotide variantNM_000258.3(MYL3):c.158-7C>GHypertrophic cardiomyopathy [RCV005181923]likely benign34686083246860832Human2name
8602587CV40441single nucleotide variantNM_000258.3(MYL3):c.559+6C>TCardiomyopathy [RCV001175856]|Hypertrophic cardiomyopathy [RCV001085158]|not provided [RCV000024472]|not specified [RCV000036032]benign|likely benign|conflicting interpretations of pathogenicity|not provided34685837846858378Human4name
13470202CV452438deletionNM_000258.3(MYL3):c.560-2delHypertrophic cardiomyopathy [RCV000545973]uncertain significance34685827446858274Human2name
13816829CV561600single nucleotide variantNM_000258.3(MYL3):c.481+5G>ACardiovascular phenotype [RCV002334301]|Hypertrophic cardiomyopathy [RCV000692588]uncertain significance34685947046859470Human2name
14692542CV619193single nucleotide variantNM_000258.3(MYL3):c.482-9T>ACardiomyopathy [RCV000774042]uncertain significance34685847046858470Human2name
14738680CV651100single nucleotide variantNM_000258.3(MYL3):c.158-8C>GHypertrophic cardiomyopathy [RCV000821030]likely benign|uncertain significance34686083346860833Human2name
34898079CV915371single nucleotide variantNM_000258.3(MYL3):c.560-1G>ACardiomyopathy [RCV001179702]uncertain significance34685827346858273Human2name
34899625CV915373single nucleotide variantNM_000258.3(MYL3):c.158-3C>GCardiomyopathy [RCV001188719]|Hypertrophic cardiomyopathy 8 [RCV002484032]uncertain significance34686082846860828Human3name , alternate_id
34898999CV915375single nucleotide variantNM_000258.3(MYL3):c.129+1G>TCardiomyopathy [RCV001180452]uncertain significance34686326146863261Human2name
34889109CV915659single nucleotide variantNM_000258.3(MYL3):c.130-4T>GCardiomyopathy [RCV001181257]likely benign34686099146860991Human2name
34895993CV915747single nucleotide variantNM_000258.3(MYL3):c.157+3G>ACardiomyopathy [RCV001178292]likely benign34686095746860957Human2name
126762328CV989608single nucleotide variantNM_000258.3(MYL3):c.308-3C>TCardiovascular phenotype [RCV002319697]|Hypertrophic cardiomyopathy 8 [RCV002476434]|Hypertrophic cardiomyopathy [RCV001309851]uncertain significance34685965146859651Human3name , alternate_id
127258990CV1092511single nucleotide variantNM_000258.3(MYL3):c.157+10G>AHypertrophic cardiomyopathy [RCV001438272]likely benign34686095046860950Human2name
127314201CV1114030single nucleotide variantNM_000258.3(MYL3):c.560-10T>GHypertrophic cardiomyopathy [RCV001464889]likely benign34685828246858282Human2name
150334795CV1164221single nucleotide variantNM_000258.3(MYL3):c.482-18G>AHypertrophic cardiomyopathy [RCV005094725]|not provided [RCV001529877]|not specified [RCV005237879]likely benign34685847946858479Human2name
150418856CV1197103single nucleotide variantNM_000258.3(MYL3):c.307+86G>Anot provided [RCV001576921]likely benign34686059046860590Humanname
150489065CV1237583single nucleotide variantNM_000258.3(MYL3):c.560-30T>Cnot provided [RCV001654432]benign34685830246858302Humanname
150483759CV1247004single nucleotide variantNM_000258.3(MYL3):c.*13+40G>Tnot provided [RCV001673500]benign34685819146858191Humanname
150484984CV1273878single nucleotide variantNM_000258.3(MYL3):c.307+16G>AHypertrophic cardiomyopathy 8 [RCV002496013]|Hypertrophic cardiomyopathy [RCV002073257]|not provided [RCV001698618]benign|likely benign34686066046860660Human3name , alternate_id
150476415CV1279248single nucleotide variantNM_000258.3(MYL3):c.307+56T>Gnot provided [RCV001713979]benign34686062046860620Humanname
8692137CV142103single nucleotide variantNM_000258.3(MYL3):c.482-17C>THypertrophic cardiomyopathy 8 [RCV005229952]|Hypertrophic cardiomyopathy [RCV002055691]|not provided [RCV001701519]|not specified [RCV000127033]benign|likely benign34685847846858478Human3name , alternate_id
8692138CV142104single nucleotide variantNM_000258.3(MYL3):c.559+19G>AHypertrophic cardiomyopathy [RCV002055692]|not specified [RCV000127035]benign34685836546858365Human2name
152076281CV1542831single nucleotide variantNM_000258.3(MYL3):c.482-20C>THypertrophic cardiomyopathy [RCV002130261]likely benign34685848146858481Human2name
152076113CV1551359single nucleotide variantNM_000258.3(MYL3):c.308-17G>CHypertrophic cardiomyopathy [RCV002192429]likely benign34685966546859665Human2name
152139484CV1560030single nucleotide variantNM_000258.3(MYL3):c.129+17G>THypertrophic cardiomyopathy [RCV002137986]likely benign34686324546863245Human2name
152153419CV1579304single nucleotide variantNM_000258.3(MYL3):c.129+16G>AHypertrophic cardiomyopathy [RCV002158529]likely benign34686324646863246Human2name
152168889CV1598260single nucleotide variantNM_000258.3(MYL3):c.481+15C>THypertrophic cardiomyopathy [RCV002142601]likely benign34685946046859460Human2name
152095023CV1599492single nucleotide variantNM_000258.3(MYL3):c.158-17C>THypertrophic cardiomyopathy [RCV002094722]likely benign34686084246860842Human2name
152045582CV1600160single nucleotide variantNM_000258.3(MYL3):c.307+17A>GHypertrophic cardiomyopathy [RCV002088512]likely benign34686065946860659Human2name
152083181CV1647804single nucleotide variantNM_000258.3(MYL3):c.130-12G>THypertrophic cardiomyopathy [RCV002076643]likely benign34686099946860999Human2name
10045195CV188977single nucleotide variantNM_000258.3(MYL3):c.482-10C>TCardiomyopathy [RCV005401350]|not provided [RCV000171360]likely pathogenic|likely benign34685847146858471Human2name
156122096CV1892619single nucleotide variantNM_000258.3(MYL3):c.308-16G>AHypertrophic cardiomyopathy [RCV003081485]likely benign34685966446859664Human2name
156312622CV1934599single nucleotide variantNM_000258.3(MYL3):c.129+19T>CHypertrophic cardiomyopathy [RCV002629866]likely benign34686324346863243Human2name
156189927CV2030228single nucleotide variantNM_000258.3(MYL3):c.560-15T>AHypertrophic cardiomyopathy [RCV002765877]likely benign34685828746858287Human2name
156343174CV2099729single nucleotide variantNM_000258.3(MYL3):c.130-14G>AHypertrophic cardiomyopathy [RCV002900594]likely benign34686100146861001Human2name
156353261CV2118846single nucleotide variantNM_000258.3(MYL3):c.308-17G>THypertrophic cardiomyopathy [RCV002966457]likely benign|uncertain significance34685966546859665Human2name
11094181CV229099single nucleotide variantNM_000258.3(MYL3):c.307+15C>THypertrophic cardiomyopathy 8 [RCV000603228]|Hypertrophic cardiomyopathy [RCV002054950]|not provided [RCV000586076]|not specified [RCV000220721]benign|likely benign|conflicting interpretations of pathogenicity34686066146860661Human3name , alternate_id
11552217CV251170single nucleotide variantNM_000258.3(MYL3):c.307+37A>CHypertrophic cardiomyopathy 8 [RCV001778821]|not provided [RCV001711529]|not specified [RCV000254076]benign34686063946860639Human1name , alternate_id
11548446CV251171single nucleotide variantNM_000258.3(MYL3):c.129+44G>THypertrophic cardiomyopathy 8 [RCV001778820]|not provided [RCV001698754]|not specified [RCV000249105]benign34686321846863218Human1name , alternate_id
405102844CV2975406single nucleotide variantNM_000258.3(MYL3):c.307+16G>CHypertrophic cardiomyopathy [RCV003749455]likely benign34686066046860660Human2name
405251485CV3024365single nucleotide variantNM_000258.3(MYL3):c.559+20G>AHypertrophic cardiomyopathy [RCV003747981]likely benign34685836446858364Human2name
405205070CV3117030single nucleotide variantNM_000258.3(MYL3):c.481+17C>THypertrophic cardiomyopathy [RCV003822514]likely benign34685945846859458Human2name
405209734CV3162629single nucleotide variantNM_000258.3(MYL3):c.307+16G>THypertrophic cardiomyopathy [RCV003861928]likely benign34686066046860660Human2name
405725114CV3230487single nucleotide variantNM_000258.3(MYL3):c.308-13C>THypertrophic cardiomyopathy [RCV004013240]likely benign34685966146859661Human2name
405714962CV3232302single nucleotide variantNM_000258.3(MYL3):c.158-14C>THypertrophic cardiomyopathy [RCV004012155]likely benign34686083946860839Human2name
596943124CV3546511single nucleotide variantNM_000258.3(MYL3):c.482-13C>THypertrophic cardiomyopathy [RCV004807635]likely benign34685847446858474Human2name
597952198CV3815727single nucleotide variantNM_000258.3(MYL3):c.130-20T>CHypertrophic cardiomyopathy [RCV005161480]likely benign34686100746861007Human2name
597925104CV3840506single nucleotide variantNM_000258.3(MYL3):c.158-18A>GHypertrophic cardiomyopathy [RCV005184977]likely benign34686084346860843Human2name
12891498CV393590single nucleotide variantNM_000258.3(MYL3):c.158-10C>TCardiomyopathy [RCV001181377]|Hypertrophic cardiomyopathy [RCV000476707]likely benign34686083546860835Human4name
12886622CV394040single nucleotide variantNM_000258.3(MYL3):c.130-10C>THypertrophic cardiomyopathy [RCV000467559]|not specified [RCV000614248]likely benign34686099746860997Human2name
8605946CV52289single nucleotide variantNM_000258.3(MYL3):c.130-14G>TCardiomyopathy [RCV000771130]|Hypertrophic cardiomyopathy 8 [RCV000608393]|Hypertrophic cardiomyopathy [RCV002054580]|not provided [RCV001594820]|not specified [RCV000036017]benign|likely benign|conflicting interpretations of pathogenicity34686100146861001Human5name , alternate_id
8605952CV52295single nucleotide variantNM_000258.3(MYL3):c.482-14C>ACardiomyopathy [RCV001189930]|Hypertrophic cardiomyopathy [RCV002054581]|not provided [RCV000590416]|not specified [RCV000036027]benign|likely benign|conflicting interpretations of pathogenicity34685847546858475Human4name
15116297CV787308single nucleotide variantNM_000258.3(MYL3):c.481+10G>CHypertrophic cardiomyopathy [RCV001488115]likely benign34685946546859465Human2name
34901029CV915743single nucleotide variantNM_000258.3(MYL3):c.560-15T>GCardiomyopathy [RCV001191035]|Hypertrophic cardiomyopathy [RCV002560101]likely benign|conflicting interpretations of pathogenicity|uncertain significance34685828746858287Human4name
150332779CV1168996single nucleotide variantNM_000258.3(MYL3):c.482-100C>Tnot provided [RCV001537023]benign34685856146858561Humanname
150438262CV1201378single nucleotide variantNM_000258.3(MYL3):c.130-322C>Anot provided [RCV001583190]likely benign34686130946861309Humanname
14741174CV659909single nucleotide variantNM_000258.3(MYL3):c.308-257G>Anot provided [RCV000840658]benign34685990546859905Humanname
14722313CV660186single nucleotide variantNM_000258.3(MYL3):c.129+193C>Anot provided [RCV000832048]benign34686306946863069Humanname
405278507CV3216687single nucleotide variantNM_000258.3(MYL3):c.9C>T (p.Pro3=)Cardiovascular phenotype [RCV004369859]|MYL3-related disorder [RCV003954577]likely benign34686338246863382Human1name , trait , alternate_id
8605959CV52302single nucleotide variantNM_000258.3(MYL3):c.9C>G (p.Pro3=)not specified [RCV000036036]likely benign34686338246863382Humanname
34888367CV909677single nucleotide variantNM_000258.3(MYL3):c.6C>A (p.Ala2=)Cardiomyopathy [RCV001180618]|Hypertrophic cardiomyopathy [RCV002068277]likely benign34686338546863385Human4name
405757323CV3233079deletionNM_000258.3(MYL3):c.2del (p.Met1fs)Hypertrophic cardiomyopathy [RCV004017031]uncertain significance34686338946863389Human2name
14692744CV616933single nucleotide variantNM_000258.3(MYL3):c.21G>A (p.Glu7=)Cardiomyopathy [RCV000774365]likely benign34686337046863370Human2name
34892976CV909676single nucleotide variantNM_000258.3(MYL3):c.27G>A (p.Lys9=)Cardiomyopathy [RCV001183492]|Cardiovascular phenotype [RCV002436749]|Hypertrophic cardiomyopathy [RCV001401444]|not specified [RCV005419024]likely benign34686336446863364Human4name
127271856CV1070842single nucleotide variantNM_000258.3(MYL3):c.78C>T (p.Pro26=)Cardiomyopathy [RCV001799080]|Cardiovascular phenotype [RCV004038009]|Hypertrophic cardiomyopathy [RCV001405490]likely benign34686331346863313Human4name
127305669CV1134915single nucleotide variantNM_000258.3(MYL3):c.96T>G (p.Pro32=)Hypertrophic cardiomyopathy [RCV001479814]likely benign34686329546863295Human2name
150516774CV1287529deletionNM_000258.3(MYL3):c.129+54_129+55delnot provided [RCV001723506]|not specified [RCV001728002]benign|likely benign34686320746863208Humanname
9687930CV173800single nucleotide variantNM_000258.3(MYL3):c.4G>C (p.Ala2Pro)Cardiomyopathy [RCV000777989]|Cardiovascular phenotype [RCV000621707]|Hypertrophic cardiomyopathy 8 [RCV000625226]|Hypertrophic cardiomyopathy [RCV000530942]|not provided [RCV001576618]|not specified [RCV000151371]likely benign|uncertain significance34686338746863387Human5name , alternate_id
155667074CV1855940single nucleotide variantNM_000258.3(MYL3):c.2T>A (p.Met1Lys)Cardiovascular phenotype [RCV002435640]uncertain significance34686338946863389Humanname
156438401CV1947004deletionNM_000258.3(MYL3):c.559+16_559+31delHypertrophic cardiomyopathy [RCV003108343]likely benign34685835346858368Human2name
156027484CV2096699single nucleotide variantNM_000258.3(MYL3):c.51C>A (p.Pro17=)Hypertrophic cardiomyopathy [RCV002885249]likely benign34686334046863340Human2name
11661523CV291667single nucleotide variantNM_000258.3(MYL3):c.96T>A (p.Pro32=)Cardiomyopathy [RCV001181052]|Cardiovascular phenotype [RCV004649136]|Hypertrophic cardiomyopathy 8 [RCV000377419]|Hypertrophic cardiomyopathy [RCV001427973]likely benign|uncertain significance34686329546863295Human5name , alternate_id
405065158CV2934715microsatelliteNM_000258.3(MYL3):c.560-19_560-16delCardiomyopathy [RCV003532745]|Hypertrophic cardiomyopathy [RCV004011514]likely benign34685828846858291Humanname
405104650CV3000299single nucleotide variantNM_000258.3(MYL3):c.60T>A (p.Ala20=)Hypertrophic cardiomyopathy [RCV003750088]likely benign34686333146863331Human2name
405221609CV3158149single nucleotide variantNM_000258.3(MYL3):c.99G>A (p.Lys33=)Cardiovascular phenotype [RCV004654370]|Hypertrophic cardiomyopathy [RCV003863644]likely benign34686329246863292Human2name
596943147CV3546524single nucleotide variantNM_000258.3(MYL3):c.87T>C (p.Pro29=)Hypertrophic cardiomyopathy [RCV004807648]likely benign34686330446863304Human2name
596943149CV3546525single nucleotide variantNM_000258.3(MYL3):c.75T>A (p.Pro25=)Hypertrophic cardiomyopathy [RCV004807649]likely benign34686331646863316Human2name
12834858CV367264single nucleotide variantNM_000258.3(MYL3):c.36T>C (p.Asp12=)Cardiomyopathy [RCV000770184]|Cardiovascular phenotype [RCV002348151]|Hypertrophic cardiomyopathy [RCV000552340]|MYL3-related disorder [RCV003897847]|not provided [RCV001718854]|not specified [RCV005404550]likely benign34686335546863355Human5name , trait , alternate_id
13528719CV509631single nucleotide variantNM_000258.3(MYL3):c.8C>A (p.Pro3His)Cardiomyopathy [RCV001798927]|Cardiovascular phenotype [RCV000620943]uncertain significance34686338346863383Human2name
8605956CV52299single nucleotide variantNM_000258.3(MYL3):c.69C>T (p.Pro23=)Cardiomyopathy [RCV000776027]|Cardiovascular phenotype [RCV000249842]|Hypertrophic cardiomyopathy 8 [RCV000625225]|Hypertrophic cardiomyopathy [RCV000264068]|not provided [RCV001705657]|not specified [RCV000036033]benign|likely benign|conflicting interpretations of pathogenicity34686332246863322Human5name , alternate_id
8605957CV52300single nucleotide variantNM_000258.3(MYL3):c.81T>C (p.Pro27=)Cardiomyopathy [RCV000770183]|Cardiovascular phenotype [RCV000241642]|Hypertrophic cardiomyopathy 8 [RCV001148456]|Hypertrophic cardiomyopathy [RCV000233955]|not provided [RCV001200161]|not specified [RCV000036034]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance34686331046863310Human5name , alternate_id
14692734CV619218microsatelliteNM_000258.3(MYL3):c.560-15_560-14delCardiomyopathy [RCV000774350]likely benign34685828646858287Humanname
34899457CV909675single nucleotide variantNM_000258.3(MYL3):c.30G>A (p.Lys10=)Cardiomyopathy [RCV001188413]|Hypertrophic cardiomyopathy [RCV004807419]likely benign34686336146863361Human4name
34900081CV909678single nucleotide variantNM_000258.3(MYL3):c.4G>T (p.Ala2Ser)Cardiomyopathy [RCV001189461]uncertain significance34686338746863387Human2name
405065225CV989610single nucleotide variantNM_000258.3(MYL3):c.1A>G (p.Met1Val)Cardiomyopathy [RCV003532752]|Hypertrophic cardiomyopathy [RCV004011515]uncertain significance34686339046863390Human4name
126738052CV1000402single nucleotide variantNM_000258.3(MYL3):c.186C>T (p.Asp62=)not provided [RCV001312016]likely benign34686079746860797Humanname
127247571CV1070841single nucleotide variantNM_000258.3(MYL3):c.105C>G (p.Val35=)Hypertrophic cardiomyopathy [RCV001416924]likely benign34686328646863286Human2name
127232903CV1092512single nucleotide variantNM_000258.3(MYL3):c.147G>A (p.Glu49=)Hypertrophic cardiomyopathy [RCV001421485]likely benign34686097046860970Human2name
127263498CV1092513single nucleotide variantNM_000258.3(MYL3):c.132T>C (p.Ile44=)Hypertrophic cardiomyopathy [RCV001439305]likely benign34686098546860985Human2name
127306870CV1114031single nucleotide variantNM_000258.3(MYL3):c.258C>T (p.Asn86=)Hypertrophic cardiomyopathy [RCV001455664]|not provided [RCV004711644]likely benign34686072546860725Human2name
127332475CV1134914single nucleotide variantNM_000258.3(MYL3):c.178C>T (p.Leu60=)Hypertrophic cardiomyopathy [RCV001489506]likely benign34686080546860805Human2name
150471884CV1281095single nucleotide variantNM_000258.3(MYL3):c.249G>T (p.Leu83=)not provided [RCV001713277]benign34686073446860734Humanname
150516635CV1287457single nucleotide variantNM_000258.3(MYL3):c.10A>C (p.Lys4Gln)Hypertrophic cardiomyopathy [RCV005057550]|not provided [RCV001723437]uncertain significance34686338146863381Human2name
152071375CV1578020single nucleotide variantNM_000258.3(MYL3):c.108G>A (p.Glu36=)Hypertrophic cardiomyopathy [RCV002111495]likely benign34686328346863283Human2name
9689298CV173939single nucleotide variantNM_000258.3(MYL3):c.246G>A (p.Ala82=)Cardiomyopathy [RCV001175628]|Cardiovascular phenotype [RCV002453511]|Hypertrophic cardiomyopathy 8 [RCV003629101]|Hypertrophic cardiomyopathy [RCV000542144]|not specified [RCV000154780]benign|likely benign34686073746860737Human5name , alternate_id
9691991CV173940single nucleotide variantNM_000258.3(MYL3):c.11A>G (p.Lys4Arg)Cardiovascular phenotype [RCV004019818]|Hypertrophic cardiomyopathy [RCV000795804]|not provided [RCV001762332]|not specified [RCV000151370]uncertain significance34686338046863380Human2name
155749355CV1775596single nucleotide variantNM_000258.3(MYL3):c.14A>C (p.Lys5Thr)Cardiovascular phenotype [RCV004047653]|Hypertrophic cardiomyopathy [RCV002304562]uncertain significance34686337746863377Human2name
9833347CV179068single nucleotide variantNM_000258.3(MYL3):c.17C>G (p.Pro6Arg)not provided [RCV000158957]uncertain significance34686337446863374Humanname
155692678CV1845762single nucleotide variantNM_000258.3(MYL3):c.25A>G (p.Lys9Glu)Cardiovascular phenotype [RCV002426219]uncertain significance34686336646863366Humanname
156400882CV1889021single nucleotide variantNM_000258.3(MYL3):c.171C>G (p.Ala57=)Hypertrophic cardiomyopathy [RCV003069120]likely benign34686081246860812Human2name
156321339CV2057115single nucleotide variantNM_000258.3(MYL3):c.162C>T (p.Phe54=)Hypertrophic cardiomyopathy [RCV002810093]likely benign34686082146860821Human2name
156107707CV2072373single nucleotide variantNM_000258.3(MYL3):c.270A>G (p.Ala90=)Hypertrophic cardiomyopathy [RCV002870774]likely benign34686071346860713Human2name
156300946CV2129493single nucleotide variantNM_000258.3(MYL3):c.252C>T (p.Gly84=)Hypertrophic cardiomyopathy [RCV002962141]likely benign34686073146860731Human2name
156211957CV2175763deletionNM_000258.3(MYL3):c.69del (p.Ala24fs)Hypertrophic cardiomyopathy [RCV003024839]uncertain significance34686332246863322Human2name
11547334CV258325single nucleotide variantNM_000258.3(MYL3):c.286C>T (p.Leu96=)Cardiomyopathy [RCV001184761]|Cardiovascular phenotype [RCV000247621]|Hypertrophic cardiomyopathy [RCV000629120]benign|likely benign34686069746860697Human4name
405171920CV2918919single nucleotide variantNM_000258.3(MYL3):c.216C>T (p.Thr72=)Hypertrophic cardiomyopathy [RCV003587682]likely benign34686076746860767Human2name
11590306CV294871single nucleotide variantNM_000258.3(MYL3):c.219C>T (p.Tyr73=)Cardiomyopathy [RCV001192124]|Cardiovascular phenotype [RCV002429310]|Hypertrophic cardiomyopathy 8 [RCV000317988]|Hypertrophic cardiomyopathy [RCV001438012]|MYL3-related disorder [RCV003950213]|not provided [RCV000868146]|not specified [RCV003479102]benign|likely benign|uncertain significance34686076446860764Human5name , trait , alternate_id
405104227CV3001019single nucleotide variantNM_000258.3(MYL3):c.22C>A (p.Pro8Thr)Hypertrophic cardiomyopathy [RCV003749936]uncertain significance34686336946863369Human2name
405101522CV3144352single nucleotide variantNM_000258.3(MYL3):c.171C>T (p.Ala57=)Hypertrophic cardiomyopathy [RCV003852805]likely benign34686081246860812Human2name
405757294CV3233075single nucleotide variantNM_000258.3(MYL3):c.241C>A (p.Arg81=)Hypertrophic cardiomyopathy [RCV004017027]likely benign34686074246860742Human2name
596924590CV3532318deletionNM_000258.3(MYL3):c.81del (p.Glu28fs)not provided [RCV004777429]uncertain significance34686331046863310Humanname
596943140CV3546520single nucleotide variantNM_000258.3(MYL3):c.159G>A (p.Glu53=)Hypertrophic cardiomyopathy [RCV004807644]likely benign34686082446860824Human2name
12741126CV359533single nucleotide variantNM_000258.3(MYL3):c.26A>G (p.Lys9Arg)Cardiomyopathy [RCV000771980]|Cardiovascular phenotype [RCV004022177]|Hypertrophic cardiomyopathy [RCV000800832]|not provided [RCV001509218]|not specified [RCV000414165]uncertain significance34686336546863365Human4name
12837431CV367589single nucleotide variantNM_000258.3(MYL3):c.222G>A (p.Gly74=)Cardiomyopathy [RCV000777846]|Cardiovascular phenotype [RCV002429403]|Hypertrophic cardiomyopathy [RCV000548867]|not specified [RCV000425146]likely benign34686076146860761Human4name
597891994CV3750095single nucleotide variantNM_000258.3(MYL3):c.267G>A (p.Gln89=)Cardiomyopathy [RCV005403463]|Hypertrophic cardiomyopathy [RCV005071256]likely benign34686071646860716Human4name
13492363CV452446single nucleotide variantNM_000258.3(MYL3):c.195C>G (p.Pro65=)Hypertrophic cardiomyopathy [RCV000534901]likely benign34686078846860788Human2name
8605947CV52290single nucleotide variantNM_000258.3(MYL3):c.165G>A (p.Lys55=)Cardiomyopathy [RCV001188096]|Hypertrophic cardiomyopathy [RCV001456031]|not specified [RCV000036018]likely benign34686081846860818Human4name
14692773CV616929single nucleotide variantNM_000258.3(MYL3):c.261C>T (p.Pro87=)Cardiomyopathy [RCV000774410]|Hypertrophic cardiomyopathy [RCV001085589]|not provided [RCV000840896]benign|likely benign34686072246860722Human4name
14692218CV616930single nucleotide variantNM_000258.3(MYL3):c.247C>T (p.Leu83=)Cardiomyopathy [RCV000773529]|Hypertrophic cardiomyopathy [RCV002061078]|not provided [RCV001724152]|not specified [RCV001701439]benign|likely benign34686073646860736Human4name
14692229CV616932single nucleotide variantNM_000258.3(MYL3):c.105C>T (p.Val35=)Cardiomyopathy [RCV000773545]|Cardiovascular phenotype [RCV002397539]|Hypertrophic cardiomyopathy [RCV001393282]likely benign34686328646863286Human4name
15097663CV763914single nucleotide variantNM_000258.3(MYL3):c.198G>A (p.Lys66=)Cardiovascular phenotype [RCV005372488]|Hypertrophic cardiomyopathy [RCV001435014]likely benign34686078546860785Human2name
34893693CV909666single nucleotide variantNM_000258.3(MYL3):c.183C>T (p.Phe61=)Cardiomyopathy [RCV001184060]|Hypertrophic cardiomyopathy [RCV001448440]|not provided [RCV001712874]likely benign34686080046860800Human4name
126741114CV1004790single nucleotide variantNM_000258.3(MYL3):c.32A>T (p.Asp11Val)Cardiovascular phenotype [RCV003166794]|Hypertrophic cardiomyopathy [RCV001314472]uncertain significance34686335946863359Human2name
127281891CV1070840single nucleotide variantNM_000258.3(MYL3):c.412C>A (p.Arg138=)Hypertrophic cardiomyopathy [RCV001410741]likely benign34685954446859544Human2name
127317716CV1134913single nucleotide variantNM_000258.3(MYL3):c.507G>A (p.Val169=)Cardiomyopathy [RCV003532996]|Cardiovascular phenotype [RCV004641657]|Hypertrophic cardiomyopathy 8 [RCV002501666]|Hypertrophic cardiomyopathy [RCV001483237]likely benign34685843646858436Human5name , alternate_id
127325612CV1160511single nucleotide variantNM_000258.3(MYL3):c.555T>C (p.Tyr185=)Cardiomyopathy [RCV001525433]|Hypertrophic cardiomyopathy [RCV004808088]likely benign34685838846858388Human4name
127326416CV1160512single nucleotide variantNM_000258.3(MYL3):c.514T>C (p.Leu172=)Cardiomyopathy [RCV001525955]|Hypertrophic cardiomyopathy [RCV002568117]likely benign34685842946858429Human4name
151348811CV1322724single nucleotide variantNM_000258.3(MYL3):c.65C>T (p.Ala22Val)Cardiomyopathy [RCV001804520]|Cardiovascular phenotype [RCV004988757]|Hypertrophic cardiomyopathy [RCV004009093]uncertain significance34686332646863326Human4name
151351076CV1323331single nucleotide variantNM_000258.3(MYL3):c.61C>G (p.Pro21Ala)Cardiomyopathy [RCV001805659]|Hypertrophic cardiomyopathy [RCV003748362]likely benign|uncertain significance34686333046863330Human4name
151872602CV1339684single nucleotide variantNM_000258.3(MYL3):c.79C>T (p.Pro27Ser)Hypertrophic cardiomyopathy [RCV002035869]|not provided [RCV005416616]uncertain significance34686331246863312Human2name
151769508CV1410658single nucleotide variantNM_000258.3(MYL3):c.91C>A (p.Arg31Ser)Hypertrophic cardiomyopathy [RCV001971038]uncertain significance34686330046863300Human2name
9833348CV179067single nucleotide variantNM_000258.3(MYL3):c.73C>T (p.Pro25Ser)Cardiovascular phenotype [RCV002381519]|Hypertrophic cardiomyopathy [RCV003748199]|not provided [RCV000158958]uncertain significance34686331846863318Human2name
155743507CV1806815single nucleotide variantNM_000258.3(MYL3):c.55G>T (p.Ala19Ser)Cardiomyopathy [RCV003533184]|Cardiovascular phenotype [RCV002344896]|Hypertrophic cardiomyopathy [RCV003748400]uncertain significance34686333646863336Human4name
155730781CV1808494single nucleotide variantNM_000258.3(MYL3):c.450T>C (p.Gly150=)Cardiovascular phenotype [RCV002339909]|Hypertrophic cardiomyopathy [RCV003748393]likely benign34685950646859506Human2name
156410171CV1962137single nucleotide variantNM_000258.3(MYL3):c.393G>A (p.Glu131=)Hypertrophic cardiomyopathy [RCV002587068]likely benign34685956346859563Human2name
156237594CV2183807single nucleotide variantNM_000258.3(MYL3):c.354C>G (p.Leu118=)Hypertrophic cardiomyopathy [RCV003059541]likely benign34685960246859602Human2name
11090558CV229096single nucleotide variantNM_000258.3(MYL3):c.477G>T (p.Thr159=)Cardiomyopathy [RCV001182230]|Cardiovascular phenotype [RCV000618975]|Hypertrophic cardiomyopathy [RCV000463239]|not specified [RCV000216208]benign|likely benign|conflicting interpretations of pathogenicity34685947946859479Human4name
11088161CV229098single nucleotide variantNM_000258.3(MYL3):c.420C>T (p.Phe140=)Cardiomyopathy [RCV000771952]|Cardiovascular phenotype [RCV002327080]|Hypertrophic cardiomyopathy [RCV000862793]|MYL3-related disorder [RCV003947707]|not provided [RCV001712094]|not specified [RCV000213235]likely benign34685953646859536Human5name , trait , alternate_id
11094826CV229100single nucleotide variantNM_000258.3(MYL3):c.92G>A (p.Arg31His)Amyloidosis, hereditary systemic 1 [RCV000852967]|Cardiomyopathy [RCV000771967]|Cardiovascular phenotype [RCV004020625]|Hypertrophic cardiomyopathy 8 [RCV005025351]|Hypertrophic cardiomyopathy [RCV000629148]|not specified [RCV000221537]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance34686329946863299Human9name , alternate_id
11091892CV229101single nucleotide variantNM_000258.3(MYL3):c.82G>A (p.Glu28Lys)Hypertrophic cardiomyopathy [RCV000472426]|not specified [RCV000217870]uncertain significance34686330946863309Human2name
11544320CV258317single nucleotide variantNM_000258.3(MYL3):c.477G>A (p.Thr159=)Cardiomyopathy [RCV001183743]|Cardiovascular phenotype [RCV000243628]|Hypertrophic cardiomyopathy [RCV002518691]|MYL3-related disorder [RCV003939918]|not provided [RCV000869712]likely benign34685947946859479Human5name , trait , alternate_id
401859825CV2753830single nucleotide variantNM_000258.3(MYL3):c.432C>T (p.Gly144=)Cardiovascular phenotype [RCV003342023]uncertain significance34685952446859524Humanname
405168638CV2894519single nucleotide variantNM_000258.3(MYL3):c.64G>T (p.Ala22Ser)Hypertrophic cardiomyopathy [RCV003587385]uncertain significance34686332746863327Human2name
405065214CV2934721single nucleotide variantNM_000258.3(MYL3):c.31G>A (p.Asp11Asn)Cardiomyopathy [RCV003532751]uncertain significance34686336046863360Human2name
405102131CV2950533single nucleotide variantNM_000258.3(MYL3):c.306A>G (p.Glu102=)Hypertrophic cardiomyopathy [RCV003749196]uncertain significance34686067746860677Human2name
405104305CV2991445single nucleotide variantNM_000258.3(MYL3):c.31G>T (p.Asp11Tyr)Hypertrophic cardiomyopathy [RCV003749964]uncertain significance34686336046863360Human2name
405102786CV3119528single nucleotide variantNM_000258.3(MYL3):c.441T>C (p.Thr147=)Hypertrophic cardiomyopathy [RCV003811790]likely benign34685951546859515Human2name
405180484CV3119858single nucleotide variantNM_000258.3(MYL3):c.480G>A (p.Leu160=)Hypertrophic cardiomyopathy [RCV003819951]uncertain significance34685947646859476Human2name
405195148CV3167669single nucleotide variantNM_000258.3(MYL3):c.94C>T (p.Pro32Ser)Cardiomyopathy [RCV005402102]|Cardiovascular phenotype [RCV004369515]|Hypertrophic cardiomyopathy [RCV003860075]uncertain significance34686329746863297Human4name
405723727CV3230346single nucleotide variantNM_000258.3(MYL3):c.309G>A (p.Glu103=)Cardiovascular phenotype [RCV005377627]|Hypertrophic cardiomyopathy [RCV004013099]likely benign34685964746859647Human2name
405721198CV3231418single nucleotide variantNM_000258.3(MYL3):c.490C>T (p.Leu164=)Hypertrophic cardiomyopathy [RCV004012825]likely benign34685845346858453Human2name
405748095CV3232908single nucleotide variantNM_000258.3(MYL3):c.50C>G (p.Pro17Arg)Hypertrophic cardiomyopathy [RCV004015867]uncertain significance34686334146863341Human2name
405757288CV3233074single nucleotide variantNM_000258.3(MYL3):c.312C>T (p.Leu104=)Hypertrophic cardiomyopathy [RCV004017026]likely benign34685964446859644Human2name
405702487CV3233414single nucleotide variantNM_000258.3(MYL3):c.58G>T (p.Ala20Ser)Hypertrophic cardiomyopathy [RCV004009870]uncertain significance34686333346863333Human2name
405704008CV3233589single nucleotide variantNM_000258.3(MYL3):c.37G>A (p.Ala13Thr)Hypertrophic cardiomyopathy [RCV004010046]uncertain significance34686335446863354Human2name
405751148CV3234020single nucleotide variantNM_000258.3(MYL3):c.74C>A (p.Pro25His)Hypertrophic cardiomyopathy [RCV004016249]uncertain significance34686331746863317Human2name
405744312CV3234584single nucleotide variantNM_000258.3(MYL3):c.366C>T (p.Ser122=)Hypertrophic cardiomyopathy [RCV004015458]likely benign34685959046859590Human2name
405714790CV3391545single nucleotide variantNM_000258.3(MYL3):c.35A>G (p.Asp12Gly)Cardiovascular phenotype [RCV004523037]uncertain significance34686335646863356Humanname
407504440CV3454541single nucleotide variantNM_000258.3(MYL3):c.498A>G (p.Glu166=)Cardiomyopathy [RCV005402153]|Cardiovascular phenotype [RCV004645815]likely benign34685844546858445Human2name
596943126CV3546512single nucleotide variantNM_000258.3(MYL3):c.408G>T (p.Gly136=)Hypertrophic cardiomyopathy [RCV004807636]likely benign34685954846859548Human2name
597697631CV3564868single nucleotide variantNM_000258.3(MYL3):c.441T>A (p.Thr147=)Cardiovascular phenotype [RCV004987405]likely benign34685951546859515Humanname
597697635CV3564869single nucleotide variantNM_000258.3(MYL3):c.459T>C (p.Leu153=)Cardiovascular phenotype [RCV004987406]likely benign34685949746859497Humanname
597697639CV3564871deletionNM_000258.3(MYL3):c.293del (p.Lys98fs)Cardiovascular phenotype [RCV004987407]uncertain significance34686069046860690Humanname
597697642CV3564872single nucleotide variantNM_000258.3(MYL3):c.342C>T (p.Phe114=)Cardiovascular phenotype [RCV004987408]uncertain significance34685961446859614Humanname
12846879CV367615single nucleotide variantNM_000258.3(MYL3):c.465C>T (p.His155=)Cardiomyopathy [RCV001187379]|Cardiovascular phenotype [RCV000620763]|Hypertrophic cardiomyopathy [RCV002060046]|not specified [RCV000442491]likely benign34685949146859491Human4name
12846353CV368610single nucleotide variantNM_000258.3(MYL3):c.501C>T (p.Asp167=)Cardiomyopathy [RCV000772013]|Cardiovascular phenotype [RCV003338590]|Hypertrophic cardiomyopathy [RCV002522464]|not specified [RCV000441477]likely benign34685844246858442Human4name
597933794CV3742744single nucleotide variantNM_000258.3(MYL3):c.402G>A (p.Val134=)Hypertrophic cardiomyopathy [RCV005076183]likely benign34685955446859554Human2name
597950329CV3768631single nucleotide variantNM_000258.3(MYL3):c.587A>G (p.Ter196=)Hypertrophic cardiomyopathy [RCV005120817]likely benign34685824546858245Human2name
597963789CV3792034single nucleotide variantNM_000258.3(MYL3):c.38C>T (p.Ala13Val)Hypertrophic cardiomyopathy [RCV005139590]uncertain significance34686335346863353Human2name
598190118CV3994056single nucleotide variantNM_000258.3(MYL3):c.432C>A (p.Gly144=)Cardiovascular phenotype [RCV005373992]likely benign34685952446859524Humanname
616934594CV4009695single nucleotide variantNM_000258.3(MYL3):c.31G>C (p.Asp11His)Cardiomyopathy [RCV005400853]uncertain significance34686336046863360Human2name
616934684CV4009831duplicationNM_000258.3(MYL3):c.207dup (p.Lys70fs)Cardiomyopathy [RCV005400989]uncertain significance34686077546860776Human2name
13541577CV500285single nucleotide variantNM_000258.3(MYL3):c.549C>T (p.Ile183=)Cardiomyopathy [RCV001179575]|Cardiovascular phenotype [RCV002350469]|Hypertrophic cardiomyopathy [RCV000907806]|not specified [RCV000616351]likely benign34685839446858394Human4name
13537294CV500290single nucleotide variantNM_000258.3(MYL3):c.381A>C (p.Thr127=)Cardiomyopathy [RCV005401521]|Cardiovascular phenotype [RCV004639286]|Hypertrophic cardiomyopathy [RCV002066683]|not specified [RCV000610211]benign|likely benign34685957546859575Human4name
13534831CV509630single nucleotide variantNM_000258.3(MYL3):c.411G>T (p.Leu137=)Cardiomyopathy [RCV000769167]|Cardiovascular phenotype [RCV000619082]|Hypertrophic cardiomyopathy [RCV000629040]|not provided [RCV001312015]|not specified [RCV005404746]benign|likely benign34685954546859545Human4name
13609442CV519317single nucleotide variantNM_000258.3(MYL3):c.360C>T (p.His120=)Cardiomyopathy [RCV001184042]|Cardiovascular phenotype [RCV003278956]|Hypertrophic cardiomyopathy [RCV001413974]likely benign34685959646859596Human4name
8605953CV52296single nucleotide variantNM_000258.3(MYL3):c.516G>A (p.Leu172=)Cardiomyopathy [RCV001188094]|Cardiovascular phenotype [RCV002336120]|Hypertrophic cardiomyopathy [RCV001454553]|not specified [RCV000036028]likely benign34685842746858427Human4name
8605958CV52301single nucleotide variantNM_000258.3(MYL3):c.91C>T (p.Arg31Cys)Cardiovascular phenotype [RCV003162311]|Hypertrophic cardiomyopathy 1 [RCV001256743]|Hypertrophic cardiomyopathy [RCV001852736]|not provided [RCV000766485]|not specified [RCV000036035]uncertain significance34686330046863300Human3name
14694162CV616928single nucleotide variantNM_000258.3(MYL3):c.429G>A (p.Glu143=)Cardiomyopathy [RCV000776430]|Hypertrophic cardiomyopathy [RCV002535559]likely benign34685952746859527Human4name
14696446CV623060single nucleotide variantNM_000258.3(MYL3):c.64G>A (p.Ala22Thr)not provided [RCV000786176]likely pathogenic34686332746863327Humanname
15099758CV686430single nucleotide variantNM_000258.3(MYL3):c.411G>A (p.Leu137=)Cardiomyopathy [RCV003532299]|Cardiovascular phenotype [RCV004027765]|Hypertrophic cardiomyopathy [RCV000869951]benign|likely benign34685954546859545Human4name
15106702CV691425single nucleotide variantNM_000258.3(MYL3):c.399C>T (p.Phe133=)Cardiomyopathy [RCV001185933]|Cardiovascular phenotype [RCV002372462]|Hypertrophic cardiomyopathy [RCV001474567]likely benign34685955746859557Human4name
15188874CV763913single nucleotide variantNM_000258.3(MYL3):c.504A>G (p.Glu168=)Hypertrophic cardiomyopathy [RCV001430105]likely benign34685843946858439Human2name
15117757CV781685single nucleotide variantNM_000258.3(MYL3):c.405G>A (p.Glu135=)Hypertrophic cardiomyopathy [RCV001460515]|not specified [RCV005405469]likely benign34685955146859551Human2name
8630853CV86008single nucleotide variantNM_000258.2(MYL3):c.489G>A (p.Arg163=)Malignant melanoma [RCV000066092]not provided34685845446858454Humanname
28882895CV889127single nucleotide variantNM_000258.3(MYL3):c.70G>A (p.Ala24Thr)Cardiovascular phenotype [RCV003339516]|Hypertrophic cardiomyopathy 8 [RCV001150031]|Hypertrophic cardiomyopathy [RCV003586270]uncertain significance34686332146863321Human3name , alternate_id
34893881CV909650single nucleotide variantNM_000258.3(MYL3):c.582C>T (p.Ser194=)Cardiomyopathy [RCV001184199]likely benign34685825046858250Human2name
34894711CV909652single nucleotide variantNM_000258.3(MYL3):c.567G>A (p.Val189=)Cardiomyopathy [RCV001177537]likely benign34685826546858265Human2name
34896341CV909653single nucleotide variantNM_000258.3(MYL3):c.552C>T (p.Asn184=)Cardiomyopathy [RCV001185696]|Cardiovascular phenotype [RCV002348622]|Hypertrophic cardiomyopathy [RCV001446959]likely benign34685839146858391Human4name
34897236CV909654single nucleotide variantNM_000258.3(MYL3):c.546C>T (p.Cys182=)Cardiomyopathy [RCV001178997]likely benign34685839746858397Human2name
34896918CV909659single nucleotide variantNM_000258.3(MYL3):c.483T>G (p.Gly161=)Cardiomyopathy [RCV001186017]|Hypertrophic cardiomyopathy [RCV001445379]likely benign34685846046858460Human4name
34890949CV909661single nucleotide variantNM_000258.3(MYL3):c.435T>C (p.Asn145=)Cardiomyopathy [RCV001182315]|Cardiovascular phenotype [RCV002327439]|Hypertrophic cardiomyopathy [RCV003748325]|not provided [RCV004711563]likely benign34685952146859521Human4name
34892951CV909662single nucleotide variantNM_000258.3(MYL3):c.426G>A (p.Lys142=)Cardiomyopathy [RCV001176168]|Hypertrophic cardiomyopathy [RCV001483806]likely benign34685953046859530Human4name
34888794CV909668single nucleotide variantNM_000258.3(MYL3):c.80C>G (p.Pro27Arg)Cardiomyopathy [RCV001181009]|Hypertrophic cardiomyopathy 8 [RCV005414571]uncertain significance34686331146863311Human3name , alternate_id
34894718CV909669single nucleotide variantNM_000258.3(MYL3):c.79C>G (p.Pro27Ala)Cardiomyopathy [RCV001177541]|Hypertrophic cardiomyopathy 8 [RCV002480596]uncertain significance34686331246863312Human3name , alternate_id
34891298CV909670single nucleotide variantNM_000258.3(MYL3):c.77C>G (p.Pro26Arg)Cardiomyopathy [RCV001182449]uncertain significance34686331446863314Human2name
34892297CV909671single nucleotide variantNM_000258.3(MYL3):c.61C>T (p.Pro21Ser)Cardiomyopathy [RCV001182989]|Cardiovascular phenotype [RCV003293942]|Hypertrophic cardiomyopathy 8 [RCV002505778]|Hypertrophic cardiomyopathy [RCV001876082]|not provided [RCV004789433]uncertain significance34686333046863330Human5name , alternate_id
34892960CV909672single nucleotide variantNM_000258.3(MYL3):c.52A>G (p.Lys18Glu)Cardiomyopathy [RCV001176176]uncertain significance34686333946863339Human2name
34899637CV909673single nucleotide variantNM_000258.3(MYL3):c.40A>C (p.Lys14Gln)Cardiomyopathy [RCV001188733]uncertain significance34686335146863351Human2name
34898889CV909674single nucleotide variantNM_000258.3(MYL3):c.36T>G (p.Asp12Glu)Cardiomyopathy [RCV001180348]|Cardiovascular phenotype [RCV004986884]|Hypertrophic cardiomyopathy [RCV003586278]|not provided [RCV001773427]likely benign|conflicting interpretations of pathogenicity|uncertain significance34686335546863355Human4name
38491581CV923222single nucleotide variantNM_000258.3(MYL3):c.71C>T (p.Ala24Val)Cardiovascular phenotype [RCV003163729]|Hypertrophic cardiomyopathy 8 [RCV002491701]|Hypertrophic cardiomyopathy [RCV001222973]uncertain significance34686332046863320Human3name , alternate_id
38486980CV923223single nucleotide variantNM_000258.3(MYL3):c.47C>T (p.Ala16Val)Hypertrophic cardiomyopathy [RCV001220550]uncertain significance34686334446863344Human2name
38473889CV931965single nucleotide variantNM_000258.3(MYL3):c.49C>T (p.Pro17Ser)Cardiomyopathy [RCV003532890]|Cardiovascular phenotype [RCV002339510]|Hypertrophic cardiomyopathy [RCV001203601]|not provided [RCV004590220]uncertain significance34686334246863342Human4name
126770171CV1025317single nucleotide variantNM_000258.3(MYL3):c.256A>T (p.Asn86Tyr)Cardiovascular phenotype [RCV004988568]|Hypertrophic cardiomyopathy [RCV001344324]|not provided [RCV001762580]uncertain significance34686072746860727Human2name
126741334CV1025318single nucleotide variantNM_000258.3(MYL3):c.227G>A (p.Cys76Tyr)Hypertrophic cardiomyopathy [RCV001350864]uncertain significance34686075646860756Human2name
127324410CV1160515single nucleotide variantNM_000258.3(MYL3):c.140C>T (p.Thr47Ile)Cardiomyopathy [RCV001524668]|Cardiovascular phenotype [RCV002388573]|Hypertrophic cardiomyopathy [RCV002568069]uncertain significance34686097746860977Human4name
127324414CV1160516single nucleotide variantNM_000258.3(MYL3):c.127A>G (p.Lys43Glu)Cardiomyopathy [RCV001524672]uncertain significance34686326446863264Human2name
150540801CV1298528single nucleotide variantNM_000258.3(MYL3):c.142C>G (p.Pro48Ala)not provided [RCV001760676]uncertain significance34686097546860975Humanname
150552386CV1301352single nucleotide variantNM_000258.3(MYL3):c.102G>T (p.Glu34Asp)not provided [RCV001767762]uncertain significance34686328946863289Humanname
150547882CV1303833single nucleotide variantNM_000258.3(MYL3):c.154G>A (p.Glu52Lys)not provided [RCV001763936]uncertain significance34686096346860963Humanname
151857120CV1347967single nucleotide variantNM_000258.3(MYL3):c.110T>C (p.Phe37Ser)Hypertrophic cardiomyopathy [RCV001979662]uncertain significance34686328146863281Human2name
151781161CV1357806single nucleotide variantNM_000258.3(MYL3):c.124A>T (p.Ile42Phe)Cardiomyopathy [RCV003533043]|Hypertrophic cardiomyopathy [RCV001875367]uncertain significance34686326746863267Human4name
151855351CV1372842single nucleotide variantNM_000258.3(MYL3):c.251G>C (p.Gly84Ala)Hypertrophic cardiomyopathy [RCV001996469]uncertain significance34686073246860732Human2name
151727182CV1408151single nucleotide variantNM_000258.3(MYL3):c.175A>T (p.Met59Leu)Hypertrophic cardiomyopathy [RCV001891871]uncertain significance34686080846860808Human2name
151843597CV1414624single nucleotide variantNM_000258.3(MYL3):c.296C>G (p.Pro99Arg)Hypertrophic cardiomyopathy [RCV001903148]uncertain significance34686068746860687Human2name
151828119CV1435642single nucleotide variantNM_000258.3(MYL3):c.294G>T (p.Lys98Asn)Hypertrophic cardiomyopathy [RCV001955409]uncertain significance34686068946860689Human2name
151869999CV1454066single nucleotide variantNM_000258.3(MYL3):c.103G>A (p.Val35Ile)Hypertrophic cardiomyopathy [RCV001906344]uncertain significance34686328846863288Human2name
151752132CV1473702single nucleotide variantNM_000258.3(MYL3):c.193C>G (p.Pro65Ala)Hypertrophic cardiomyopathy [RCV001872356]uncertain significance34686079046860790Human2name
9687261CV171084single nucleotide variantNM_000258.3(MYL3):c.235G>A (p.Val79Ile)Cardiomyopathy [RCV000777873]|Cardiovascular phenotype [RCV002453474]|Hypertrophic cardiomyopathy 8 [RCV002505134]|Hypertrophic cardiomyopathy [RCV000527113]|Primary familial hypertrophic cardiomyopathy [RCV000148716]|not specified [RCV003155086]likely pathogenic|uncertain significance34686074846860748Human7name , alternate_id
9689154CV173799single nucleotide variantNM_000258.3(MYL3):c.187C>T (p.Arg63Cys)Cardiomyopathy [RCV000777995]|Cardiovascular phenotype [RCV000617865]|Hypertrophic cardiomyopathy [RCV001358941]|not provided [RCV001699044]|not specified [RCV000154591]uncertain significance34686079646860796Human4name
9833344CV179059single nucleotide variantNM_000258.3(MYL3):c.292A>G (p.Lys98Glu)Hypertrophic cardiomyopathy [RCV001857571]|not provided [RCV000158945]uncertain significance34686069146860691Human2name
9833350CV179060single nucleotide variantNM_000258.3(MYL3):c.280C>T (p.Arg94Cys)Cardiomyopathy [RCV001176080]|Cardiovascular phenotype [RCV002433708]|Hypertrophic cardiomyopathy [RCV000233649]|not provided [RCV003128586]pathogenic|uncertain significance34686070346860703Human4name
9833343CV179061single nucleotide variantNM_000258.3(MYL3):c.220G>A (p.Gly74Arg)Cardiomyopathy [RCV001186246]|Cardiovascular phenotype [RCV002426781]|Hypertrophic cardiomyopathy 8 [RCV000624944]|Hypertrophic cardiomyopathy [RCV001850229]|not provided [RCV000766486]|not specified [RCV000158942]likely benign|uncertain significance34686076346860763Human5name , alternate_id
9833342CV179062single nucleotide variantNM_000258.3(MYL3):c.194C>G (p.Pro65Arg)Cardiovascular phenotype [RCV002415694]|not provided [RCV000158941]likely pathogenic|uncertain significance34686078946860789Humanname
9833349CV179063single nucleotide variantNM_000258.3(MYL3):c.193C>T (p.Pro65Ser)Cardiomyopathy [RCV003532002]|Cardiovascular phenotype [RCV004639155]|Hypertrophic cardiomyopathy [RCV004806106]|not provided [RCV000158960]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance34686079046860790Human4name
9833341CV179064single nucleotide variantNM_000258.3(MYL3):c.188G>C (p.Arg63Pro)Cardiovascular phenotype [RCV002408714]|Hypertrophic cardiomyopathy [RCV000991351]|not provided [RCV000158940]uncertain significance34686079546860795Human2name
9833340CV179065single nucleotide variantNM_000258.3(MYL3):c.184G>A (p.Asp62Asn)Cardiomyopathy [RCV001185804]|Cardiovascular phenotype [RCV004649080]|Hypertrophic cardiomyopathy [RCV003998377]|not provided [RCV000158939]|not specified [RCV000214205]likely pathogenic|uncertain significance34686079946860799Human4name
9833339CV179066single nucleotide variantNM_000258.3(MYL3):c.136T>C (p.Phe46Leu)Cardiomyopathy [RCV001176079]|Cardiovascular phenotype [RCV002381518]|Hypertrophic cardiomyopathy [RCV001056549]|not provided [RCV000158936]|not specified [RCV001804879]uncertain significance34686098146860981Human4name
155669875CV1842452single nucleotide variantNM_000258.3(MYL3):c.263C>T (p.Thr88Ile)Cardiovascular phenotype [RCV002452969]uncertain significance34686072046860720Humanname
155748284CV1846969single nucleotide variantNM_000258.3(MYL3):c.211A>T (p.Ile71Phe)Cardiovascular phenotype [RCV002417594]|not provided [RCV002511167]uncertain significance34686077246860772Humanname
155677599CV1848290single nucleotide variantNM_000258.3(MYL3):c.244G>T (p.Ala82Ser)Cardiovascular phenotype [RCV002455430]uncertain significance34686073946860739Humanname
155686193CV1853391single nucleotide variantNM_000258.3(MYL3):c.278T>C (p.Leu93Pro)Cardiovascular phenotype [RCV002441406]uncertain significance34686070546860705Humanname
155680766CV1854420single nucleotide variantNM_000258.3(MYL3):c.100G>A (p.Glu34Lys)Cardiovascular phenotype [RCV002439752]|Hypertrophic cardiomyopathy [RCV003748448]uncertain significance34686329146863291Human2name
156008875CV2046430deletionNM_000258.3(MYL3):c.579del (p.Met193fs)Hypertrophic cardiomyopathy [RCV002756571]uncertain significance34685825346858253Human2name
156095682CV2106460single nucleotide variantNM_000258.3(MYL3):c.281G>C (p.Arg94Pro)Cardiomyopathy [RCV005403253]|Hypertrophic cardiomyopathy [RCV002952537]uncertain significance34686070246860702Human4name
156116809CV2150592single nucleotide variantNM_000258.3(MYL3):c.200G>A (p.Cys67Tyr)Cardiovascular phenotype [RCV004642109]|Hypertrophic cardiomyopathy [RCV003021637]uncertain significance34686078346860783Human2name
156370464CV2188601single nucleotide variantNM_000258.3(MYL3):c.175A>G (p.Met59Val)Hypertrophic cardiomyopathy [RCV003066245]|not provided [RCV004593143]uncertain significance34686080846860808Human2name
404978808CV2852253single nucleotide variantNM_000258.3(MYL3):c.214A>G (p.Thr72Ala)Cardiomyopathy [RCV003487250]uncertain significance34686076946860769Human2name
405164192CV2876799single nucleotide variantNM_000258.3(MYL3):c.210G>C (p.Lys70Asn)Hypertrophic cardiomyopathy [RCV003586990]uncertain significance34686077346860773Human2name
405253050CV3044048single nucleotide variantNM_000258.3(MYL3):c.287T>C (p.Leu96Pro)Hypertrophic cardiomyopathy [RCV003748688]uncertain significance34686069646860696Human2name
405252014CV3053689single nucleotide variantNM_000258.3(MYL3):c.233A>T (p.Asp78Val)Cardiovascular phenotype [RCV004373972]|Hypertrophic cardiomyopathy [RCV003748173]uncertain significance34686075046860750Human2name
404978624CV3127449single nucleotide variantNM_000258.3(MYL3):c.275T>C (p.Val92Ala)Hypertrophic cardiomyopathy [RCV003825673]uncertain significance34686070846860708Human2name
405235944CV3166389single nucleotide variantNM_000258.3(MYL3):c.122A>G (p.Lys41Arg)Hypertrophic cardiomyopathy [RCV003853838]uncertain significance34686326946863269Human2name
405241950CV3173219single nucleotide variantNM_000258.3(MYL3):c.289G>A (p.Gly97Arg)Hypertrophic cardiomyopathy [RCV003867504]uncertain significance34686069446860694Human2name
405250014CV3180542single nucleotide variantNM_000258.3(MYL3):c.277C>T (p.Leu93Phe)Hypertrophic cardiomyopathy [RCV003869819]uncertain significance34686070646860706Human2name
405730404CV3229024single nucleotide variantNM_000258.3(MYL3):c.230G>T (p.Gly77Val)Hypertrophic cardiomyopathy [RCV004013774]uncertain significance34686075346860753Human2name
405693884CV3229932single nucleotide variantNM_000258.3(MYL3):c.143C>T (p.Pro48Leu)Hypertrophic cardiomyopathy [RCV004007849]uncertain significance34686097446860974Human2name
405726511CV3230624single nucleotide variantNM_000258.3(MYL3):c.101A>T (p.Glu34Val)Hypertrophic cardiomyopathy [RCV004013378]uncertain significance34686329046863290Human2name
405729389CV3231084duplicationNM_000258.3(MYL3):c.351dup (p.Leu118fs)Hypertrophic cardiomyopathy [RCV004013665]uncertain significance34685960446859605Human2name
405729787CV3231126deletionNM_000258.3(MYL3):c.504del (p.Val169fs)Hypertrophic cardiomyopathy [RCV004013707]uncertain significance34685843946858439Human2name
405722212CV3231911single nucleotide variantNM_000258.3(MYL3):c.258C>G (p.Asn86Lys)Hypertrophic cardiomyopathy [RCV004012933]uncertain significance34686072546860725Human2name
405715763CV3232352single nucleotide variantNM_000258.3(MYL3):c.125T>C (p.Ile42Thr)Cardiomyopathy [RCV005402121]|Hypertrophic cardiomyopathy [RCV004012205]uncertain significance34686326646863266Human4name
405753655CV3232453single nucleotide variantNM_000258.3(MYL3):c.259C>T (p.Pro87Ser)Hypertrophic cardiomyopathy [RCV004016588]uncertain significance34686072446860724Human2name
405755700CV3232690single nucleotide variantNM_000258.3(MYL3):c.193C>A (p.Pro65Thr)Hypertrophic cardiomyopathy [RCV004016826]uncertain significance34686079046860790Human2name
405757302CV3233076single nucleotide variantNM_000258.3(MYL3):c.232G>T (p.Asp78Tyr)Hypertrophic cardiomyopathy [RCV004017028]uncertain significance34686075146860751Human2name
405757308CV3233077single nucleotide variantNM_000258.3(MYL3):c.232G>A (p.Asp78Asn)Hypertrophic cardiomyopathy [RCV004017029]uncertain significance34686075146860751Human2name
405757316CV3233078single nucleotide variantNM_000258.3(MYL3):c.177G>A (p.Met59Ile)Hypertrophic cardiomyopathy [RCV004017030]uncertain significance34686080646860806Human2name
405749260CV3233783single nucleotide variantNM_000258.3(MYL3):c.215C>A (p.Thr72Asn)Hypertrophic cardiomyopathy [RCV004016011]uncertain significance34686076846860768Human2name
405751268CV3234035single nucleotide variantNM_000258.3(MYL3):c.206T>C (p.Met69Thr)Cardiomyopathy [RCV005403387]|Hypertrophic cardiomyopathy [RCV004016264]uncertain significance34686077746860777Human4name
405744202CV3234570deletionNM_000258.3(MYL3):c.318del (p.Lys107fs)Hypertrophic cardiomyopathy [RCV004015443]uncertain significance34685963846859638Human2name
405714784CV3391544single nucleotide variantNM_000258.3(MYL3):c.242G>A (p.Arg81Gln)Cardiovascular phenotype [RCV004523036]|Hypertrophic cardiomyopathy [RCV004805648]uncertain significance34686074146860741Human2name
407501203CV3495578single nucleotide variantNM_000258.3(MYL3):c.182T>C (p.Phe61Ser)not provided [RCV004697418]uncertain significance34686080146860801Humanname
596943131CV3546515single nucleotide variantNM_000258.3(MYL3):c.251G>A (p.Gly84Asp)Hypertrophic cardiomyopathy [RCV004807639]uncertain significance34686073246860732Human2name
596943133CV3546516single nucleotide variantNM_000258.3(MYL3):c.244G>A (p.Ala82Thr)Hypertrophic cardiomyopathy [RCV004807640]uncertain significance34686073946860739Human2name
596943135CV3546517single nucleotide variantNM_000258.3(MYL3):c.223C>T (p.Gln75Ter)Hypertrophic cardiomyopathy [RCV004807641]uncertain significance34686076046860760Human2name
596943138CV3546519single nucleotide variantNM_000258.3(MYL3):c.173T>C (p.Phe58Ser)Hypertrophic cardiomyopathy [RCV004807643]uncertain significance34686081046860810Human2name
596943143CV3546522single nucleotide variantNM_000258.3(MYL3):c.111T>G (p.Phe37Leu)Hypertrophic cardiomyopathy [RCV004807646]uncertain significance34686328046863280Human2name
597697646CV3564873single nucleotide variantNM_000258.3(MYL3):c.115G>A (p.Ala39Thr)Cardiovascular phenotype [RCV004987409]uncertain significance34686327646863276Humanname
597974226CV3821165single nucleotide variantNM_000258.3(MYL3):c.225G>T (p.Gln75His)Hypertrophic cardiomyopathy [RCV005168486]uncertain significance34686075846860758Human2name
597960780CV3840320single nucleotide variantNM_000258.3(MYL3):c.143C>G (p.Pro48Arg)Hypertrophic cardiomyopathy [RCV005192804]uncertain significance34686097446860974Human2name
597861759CV3850830single nucleotide variantNM_000258.3(MYL3):c.121A>G (p.Lys41Glu)Hypertrophic cardiomyopathy [RCV005195963]uncertain significance34686327046863270Human2name
12882490CV393836single nucleotide variantNM_000258.3(MYL3):c.280C>A (p.Arg94Ser)Hypertrophic cardiomyopathy [RCV000459761]uncertain significance34686070346860703Human2name
8602582CV40436single nucleotide variantNM_000258.3(MYL3):c.167A>G (p.Glu56Gly)not provided [RCV000024467]not provided34686081646860816Humanname
8602583CV40437single nucleotide variantNM_000258.3(MYL3):c.281G>A (p.Arg94His)Cardiomyopathy [RCV000769168]|Cardiovascular phenotype [RCV003162261]|Hypertrophic cardiomyopathy 8 [RCV000491596]|Hypertrophic cardiomyopathy [RCV000824445]|Primary familial hypertrophic cardiomyopathy [RCV001290568]|not provided [RCV000024468]pathogenic|likely pathogenic|not provided34686070246860702Human7name , alternate_id
8602586CV40440single nucleotide variantNM_000258.3(MYL3):c.170C>G (p.Ala57Gly)Cardiomyopathy [RCV001184759]|Cardiovascular phenotype [RCV000243485]|Hypertrophic cardiomyopathy 8 [RCV000709747]|Hypertrophic cardiomyopathy [RCV000229595]|not provided [RCV000024471]|not specified [RCV000722117]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided34686081346860813Human5name , alternate_id
12895158CV406312deletionNM_000258.3(MYL3):c.457del (p.Leu153fs)Cardiomyopathy [RCV001180610]|Cardiovascular phenotype [RCV004023114]|Hypertrophic cardiomyopathy [RCV001851148]|not provided [RCV000485422]pathogenic|uncertain significance34685949946859499Human4name
12907173CV414943single nucleotide variantNM_000258.3(MYL3):c.152T>C (p.Ile51Thr)Cardiomyopathy [RCV001189160]|Cardiovascular phenotype [RCV004649176]|Hypertrophic cardiomyopathy 8 [RCV005054199]|Hypertrophic cardiomyopathy [RCV000853435]|not provided [RCV000490125]|not specified [RCV003387858]uncertain significance34686096546860965Human5name , alternate_id
13609154CV519501single nucleotide variantNM_000258.3(MYL3):c.283G>T (p.Val95Phe)Hypertrophic cardiomyopathy [RCV000628912]uncertain significance34686070046860700Human2name
8605948CV52291single nucleotide variantNM_000258.3(MYL3):c.170C>A (p.Ala57Asp)Cardiomyopathy [RCV000238674]|Cardiovascular phenotype [RCV000618276]|Hypertrophic cardiomyopathy 8 [RCV000755682]|Hypertrophic cardiomyopathy [RCV000538349]|Long QT syndrome [RCV003318341]|MYL3-related disorder [RCV004752733]|Primary familial hypertrophic cardipathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance34686081346860813Human9name , trait , alternate_id
13810440CV561602single nucleotide variantNM_000258.3(MYL3):c.245C>T (p.Ala82Val)Cardiomyopathy [RCV001190451]|Cardiovascular phenotype [RCV002424598]|Hypertrophic cardiomyopathy [RCV000688253]|not specified [RCV000781634]uncertain significance34686073846860738Human4name
13817201CV562972duplicationNM_000258.3(MYL3):c.410dup (p.Arg138fs)Hypertrophic cardiomyopathy [RCV000706859]uncertain significance34685954546859546Human2name
14688940CV614898single nucleotide variantNM_000258.3(MYL3):c.274G>A (p.Val92Met)Cardiomyopathy [RCV000770181]|Hypertrophic cardiomyopathy [RCV001343480]uncertain significance34686070946860709Human4name
14692827CV614899single nucleotide variantNM_000258.3(MYL3):c.188G>A (p.Arg63His)Cardiomyopathy [RCV000770182]|Hypertrophic cardiomyopathy [RCV001036976]|not specified [RCV005407946]uncertain significance34686079546860795Human4name
14692314CV616931single nucleotide variantNM_000258.3(MYL3):c.229G>A (p.Gly77Arg)Cardiomyopathy [RCV000773697]uncertain significance34686075446860754Human2name
14699109CV624268single nucleotide variantNM_000258.3(MYL3):c.191C>T (p.Thr64Ile)Hypertrophic cardiomyopathy [RCV001208425]|not provided [RCV000788333]uncertain significance34686079246860792Human2name
14740777CV631459single nucleotide variantNM_000258.3(MYL3):c.206T>A (p.Met69Lys)Cardiomyopathy [RCV001805876]|Cardiovascular phenotype [RCV002422759]|Hypertrophic cardiomyopathy [RCV000805509]uncertain significance34686077746860777Human4name
14709358CV631460single nucleotide variantNM_000258.3(MYL3):c.170C>T (p.Ala57Val)Cardiovascular phenotype [RCV002397569]|Hypertrophic cardiomyopathy 8 [RCV002507363]|Hypertrophic cardiomyopathy [RCV000792858]uncertain significance34686081346860813Human3name , alternate_id
14728346CV631461single nucleotide variantNM_000258.3(MYL3):c.147G>T (p.Glu49Asp)Cardiomyopathy [RCV001805891]|Hypertrophic cardiomyopathy [RCV000816475]uncertain significance34686097046860970Human4name
28900988CV859274single nucleotide variantNM_000258.3(MYL3):c.106G>A (p.Glu36Lys)Cardiomyopathy [RCV001191856]|Cardiovascular phenotype [RCV002411627]|Hypertrophic cardiomyopathy [RCV004000221]uncertain significance34686328546863285Human4name
34894436CV909667single nucleotide variantNM_000258.3(MYL3):c.178C>G (p.Leu60Val)Cardiomyopathy [RCV001184606]|Hypertrophic cardiomyopathy [RCV003586284]uncertain significance34686080546860805Human4name
38493424CV923220single nucleotide variantNM_000258.3(MYL3):c.265C>T (p.Gln89Ter)Cardiovascular phenotype [RCV002451526]|Hypertrophic cardiomyopathy [RCV001224231]uncertain significance34686071846860718Human2name
38494441CV923221single nucleotide variantNM_000258.3(MYL3):c.241C>T (p.Arg81Trp)Cardiomyopathy [RCV003532905]|Cardiovascular phenotype [RCV003380907]|Hypertrophic cardiomyopathy 8 [RCV002497766]|Hypertrophic cardiomyopathy [RCV001224972]uncertain significance34686074246860742Human5name , alternate_id
38493225CV953497single nucleotide variantNM_000258.3(MYL3):c.218A>G (p.Tyr73Cys)Hypertrophic cardiomyopathy [RCV001240560]uncertain significance34686076546860765Human2name
38493489CV953498single nucleotide variantNM_000258.3(MYL3):c.133G>C (p.Glu45Gln)Cardiomyopathy [RCV005403003]|Hypertrophic cardiomyopathy [RCV001240712]uncertain significance34686098446860984Human4name
126763484CV989606duplicationNM_000258.3(MYL3):c.575dup (p.Met193fs)Cardiovascular phenotype [RCV002350541]|Hypertrophic cardiomyopathy [RCV001300721]uncertain significance34685825646858257Human2name
126765776CV989609single nucleotide variantNM_000258.3(MYL3):c.295C>G (p.Pro99Ala)Hypertrophic cardiomyopathy [RCV001301620]uncertain significance34686068846860688Human2name
126770283CV1004788single nucleotide variantNM_000258.3(MYL3):c.494C>G (p.Thr165Arg)Hypertrophic cardiomyopathy [RCV001322478]uncertain significance34685844946858449Human2name
126759182CV1025316single nucleotide variantNM_000258.3(MYL3):c.536C>A (p.Ser179Tyr)Hypertrophic cardiomyopathy [RCV001340055]uncertain significance34685840746858407Human2name
126915057CV1042261single nucleotide variantNM_000258.3(MYL3):c.433A>G (p.Asn145Asp)Cardiovascular phenotype [RCV003339615]|Hypertrophic cardiomyopathy [RCV001359764]|not provided [RCV001509217]uncertain significance34685952346859523Human2name
127326114CV1160510single nucleotide variantNM_000258.3(MYL3):c.557A>C (p.Glu186Ala)Cardiomyopathy [RCV001525764]|Hypertrophic cardiomyopathy 8 [RCV002495845]|Hypertrophic cardiomyopathy [RCV003771608]|not provided [RCV003222333]uncertain significance34685838646858386Human5name , alternate_id
127323733CV1160513single nucleotide variantNM_000258.3(MYL3):c.421G>T (p.Asp141Tyr)Cardiomyopathy [RCV001524222]uncertain significance34685953546859535Human2name
150417310CV1179725single nucleotide variantNM_000258.3(MYL3):c.456G>T (p.Glu152Asp)Cardiovascular phenotype [RCV002334595]|Hypertrophic cardiomyopathy [RCV005057502]|not provided [RCV001550064]uncertain significance34685950046859500Human2name
150488403CV1274200single nucleotide variantNM_000258.3(MYL3):c.421G>A (p.Asp141Asn)Cardiomyopathy [RCV005403109]|Cardiovascular phenotype [RCV002329709]|Hypertrophic cardiomyopathy [RCV004008962]|not provided [RCV001699847]uncertain significance34685953546859535Human4name
150534493CV1300609single nucleotide variantNM_000258.3(MYL3):c.568A>G (p.Lys190Glu)Cardiomyopathy [RCV005403111]|Hypertrophic cardiomyopathy [RCV002544094]|not provided [RCV001758737]uncertain significance34685826446858264Human4name
151797585CV1352628single nucleotide variantNM_000258.3(MYL3):c.350T>C (p.Met117Thr)Hypertrophic cardiomyopathy [RCV001877085]|MYL3-related disorder [RCV004753409]uncertain significance34685960646859606Human3name , trait , alternate_id
151834446CV1369953single nucleotide variantNM_000258.3(MYL3):c.307G>A (p.Glu103Lys)Cardiomyopathy [RCV003533055]|Hypertrophic cardiomyopathy [RCV001920819]uncertain significance34686067646860676Human4name
151738428CV1390025single nucleotide variantNM_000258.3(MYL3):c.392A>G (p.Glu131Gly)Hypertrophic cardiomyopathy [RCV001893025]uncertain significance34685956446859564Human2name
151744987CV1401671single nucleotide variantNM_000258.3(MYL3):c.487A>G (p.Arg163Gly)Cardiovascular phenotype [RCV002334767]|Hypertrophic cardiomyopathy [RCV001947493]uncertain significance34685845646858456Human2name
151808046CV1417818single nucleotide variantNM_000258.3(MYL3):c.536C>T (p.Ser179Phe)Hypertrophic cardiomyopathy [RCV001867737]|not provided [RCV005095364]uncertain significance34685840746858407Human2name
151834927CV1446919single nucleotide variantNM_000258.3(MYL3):c.383G>C (p.Gly128Ala)Hypertrophic cardiomyopathy [RCV002031183]uncertain significance34685957346859573Human2name
151778899CV1473575single nucleotide variantNM_000258.3(MYL3):c.553T>A (p.Tyr185Asn)Hypertrophic cardiomyopathy [RCV001864781]uncertain significance34685839046858390Human2name
151869206CV1497625single nucleotide variantNM_000258.3(MYL3):c.326T>C (p.Met109Thr)Hypertrophic cardiomyopathy [RCV001960208]uncertain significance34685963046859630Human2name
9689059CV173798single nucleotide variantNM_000258.3(MYL3):c.466G>T (p.Val156Leu)Cardiomyopathy [RCV000769164]|Hypertrophic cardiomyopathy 8 [RCV000201472]|Hypertrophic cardiomyopathy [RCV001309098]|Primary familial hypertrophic cardiomyopathy [RCV000845401]|not provided [RCV000766488]|not specified [RCV000154477]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance34685949046859490Human6name , alternate_id
155742461CV1777272single nucleotide variantNM_000258.3(MYL3):c.365C>T (p.Ser122Phe)Hypertrophic cardiomyopathy [RCV002302915]uncertain significance34685959146859591Human2name
9832445CV178529single nucleotide variantNM_000258.3(MYL3):c.447G>A (p.Met149Ile)Cardiovascular phenotype [RCV002326895]|Primary familial hypertrophic cardiomyopathy [RCV000157372]|not provided [RCV004819996]likely pathogenic|uncertain significance34685950946859509Human2name
9833351CV179056single nucleotide variantNM_000258.3(MYL3):c.518T>A (p.Met173Lys)Hypertrophic cardiomyopathy [RCV000800210]|not provided [RCV000158962]pathogenic|uncertain significance34685842546858425Human2name
9833346CV179057single nucleotide variantNM_000258.3(MYL3):c.447G>T (p.Met149Ile)Hypertrophic cardiomyopathy [RCV003447508]|not provided [RCV000158949]pathogenic|likely pathogenic34685950946859509Human2name
9833345CV179058single nucleotide variantNM_000258.3(MYL3):c.380C>G (p.Thr127Arg)not provided [RCV000158946]uncertain significance34685957646859576Humanname
155725662CV1790964single nucleotide variantNM_000258.3(MYL3):c.419T>C (p.Phe140Ser)Cardiovascular phenotype [RCV002327842]uncertain significance34685953746859537Humanname
155718580CV1808961single nucleotide variantNM_000258.3(MYL3):c.475A>T (p.Thr159Ser)Cardiovascular phenotype [RCV002337658]uncertain significance34685948146859481Humanname
156399326CV1877466single nucleotide variantNM_000258.3(MYL3):c.337A>G (p.Thr113Ala)Hypertrophic cardiomyopathy [RCV003068974]uncertain significance34685961946859619Human2name
156408993CV1880026single nucleotide variantNM_000258.3(MYL3):c.486G>C (p.Glu162Asp)Hypertrophic cardiomyopathy [RCV003071489]uncertain significance34685845746858457Human2name
156175701CV2010350single nucleotide variantNM_000258.3(MYL3):c.317C>T (p.Thr106Ile)Hypertrophic cardiomyopathy [RCV002710621]uncertain significance34685963946859639Human2name
156018667CV2020618single nucleotide variantNM_000258.3(MYL3):c.434A>C (p.Asn145Thr)Cardiovascular phenotype [RCV004642014]|Hypertrophic cardiomyopathy [RCV002735269]uncertain significance34685952246859522Human2name
156202245CV2092549single nucleotide variantNM_000258.3(MYL3):c.464A>T (p.His155Leu)Hypertrophic cardiomyopathy [RCV002917829]uncertain significance34685949246859492Human2name
156053674CV2137229single nucleotide variantNM_000258.3(MYL3):c.505G>C (p.Val169Leu)Hypertrophic cardiomyopathy [RCV002999957]uncertain significance34685843846858438Human2name
156202288CV2166167single nucleotide variantNM_000258.3(MYL3):c.575T>A (p.Ile192Asn)Hypertrophic cardiomyopathy [RCV003042014]uncertain significance34685825746858257Human2name
156264495CV2170081single nucleotide variantNM_000258.3(MYL3):c.503A>C (p.Glu168Ala)Hypertrophic cardiomyopathy [RCV003026769]uncertain significance34685844046858440Human2name
156214942CV2171179single nucleotide variantNM_000258.3(MYL3):c.505G>A (p.Val169Met)Hypertrophic cardiomyopathy [RCV003042482]uncertain significance34685843846858438Human2name
156370042CV2190693single nucleotide variantNM_000258.3(MYL3):c.481G>A (p.Gly161Ser)Hypertrophic cardiomyopathy [RCV003066215]uncertain significance34685947546859475Human2name
10768660CV221419single nucleotide variantNM_000258.3(MYL3):c.508G>A (p.Glu170Lys)Hypertrophic cardiomyopathy [RCV000206767]uncertain significance34685843546858435Human2name
11040001CV224280single nucleotide variantNM_000258.3(MYL3):c.571C>G (p.His191Asp)Primary familial hypertrophic cardiomyopathy [RCV000208171]uncertain significance34685826146858261Human1name
11040162CV224282single nucleotide variantNM_000258.3(MYL3):c.451G>A (p.Ala151Thr)Hypertrophic cardiomyopathy [RCV000817802]|Primary familial hypertrophic cardiomyopathy [RCV000208495]|not provided [RCV000426551]pathogenic|likely pathogenic|uncertain significance34685950546859505Human3name
11040059CV224283single nucleotide variantNM_000258.3(MYL3):c.383G>A (p.Gly128Asp)Hypertrophic cardiomyopathy [RCV001362336]|Primary familial hypertrophic cardiomyopathy [RCV000208278]likely pathogenic|uncertain significance34685957346859573Human3name
11094508CV229097single nucleotide variantNM_000258.3(MYL3):c.452C>T (p.Ala151Val)Hypertrophic cardiomyopathy [RCV000768520]|not specified [RCV000221147]pathogenic|uncertain significance34685950446859504Human2name
11348642CV239237single nucleotide variantNM_000258.3(MYL3):c.301C>G (p.Gln101Glu)Hypertrophic cardiomyopathy [RCV000227429]uncertain significance34686068246860682Human2name
329355088CV2433864single nucleotide variantNM_000258.3(MYL3):c.418T>C (p.Phe140Leu)Cardiovascular phenotype [RCV003177656]|Hypertrophic cardiomyopathy [RCV003586390]uncertain significance34685953846859538Human2name
11550633CV258323single nucleotide variantNM_000258.3(MYL3):c.400G>A (p.Val134Met)Cardiovascular phenotype [RCV000252010]|Hypertrophic cardiomyopathy [RCV001300273]|not provided [RCV000845567]uncertain significance34685955646859556Human2name
401931266CV2800733single nucleotide variantNM_000258.3(MYL3):c.349A>C (p.Met117Leu)Cardiovascular phenotype [RCV004654203]|MYL3-related disorder [RCV003391287]uncertain significance34685960746859607Human1name , trait , alternate_id
405165264CV2877063single nucleotide variantNM_000258.3(MYL3):c.540T>G (p.Asn180Lys)Hypertrophic cardiomyopathy [RCV003586996]uncertain significance34685840346858403Human2name
405168628CV2894518single nucleotide variantNM_000258.3(MYL3):c.374A>G (p.Lys125Arg)Hypertrophic cardiomyopathy [RCV003587384]uncertain significance34685958246859582Human2name
8599671CV29100single nucleotide variantNM_000258.3(MYL3):c.445A>G (p.Met149Val)Cardiovascular phenotype [RCV004018632]|Hypertrophic cardiomyopathy 8 [RCV000015105]|Hypertrophic cardiomyopathy [RCV000168418]|not provided [RCV000158948]pathogenic|likely pathogenic34685951146859511Human3name , alternate_id
8599672CV29101single nucleotide variantNM_000258.3(MYL3):c.461G>A (p.Arg154His)Cardiomyopathy [RCV001170903]|Cardiomyopathy, familial restrictive, 1 [RCV000491772]|Cardiovascular phenotype [RCV000253839]|Hypertrophic cardiomyopathy 8 [RCV000015106]|Hypertrophic cardiomyopathy [RCV000552674]|not provided [RCV000766487]pathogenic|likely pathogenic|uncertain significance34685949546859495Human6name , alternate_id
8599673CV29102single nucleotide variantNM_000258.3(MYL3):c.427G>A (p.Glu143Lys)Cardiomyopathy [RCV001186218]|Cardiovascular phenotype [RCV000249729]|Hypertrophic cardiomyopathy 8 [RCV000015107]|Hypertrophic cardiomyopathy [RCV000199993]|MYL3-related disorder [RCV003407333]|Primary familial hypertrophic cardiomyopathy [RCV001201266]|not propathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance34685952946859529Human7name , trait , alternate_id
405174753CV2926141single nucleotide variantNM_000258.3(MYL3):c.383G>T (p.Gly128Val)Hypertrophic cardiomyopathy [RCV003587958]uncertain significance34685957346859573Human2name
405065170CV2934716single nucleotide variantNM_000258.3(MYL3):c.551A>G (p.Asn184Ser)Cardiomyopathy [RCV003532746]|not provided [RCV004775447]uncertain significance34685839246858392Human2name
405065179CV2934717single nucleotide variantNM_000258.3(MYL3):c.430G>A (p.Gly144Ser)Cardiomyopathy [RCV003532747]uncertain significance34685952646859526Human2name
405065192CV2934718single nucleotide variantNM_000258.3(MYL3):c.344T>C (p.Leu115Pro)Cardiomyopathy [RCV003532748]uncertain significance34685961246859612Human2name
405065207CV2934719single nucleotide variantNM_000258.3(MYL3):c.310C>A (p.Leu104Ile)Cardiomyopathy [RCV003532749]uncertain significance34685964646859646Human2name
405251127CV3028990single nucleotide variantNM_000258.3(MYL3):c.389A>G (p.Tyr130Cys)Hypertrophic cardiomyopathy [RCV003747841]uncertain significance34685956746859567Human2name
405254998CV3175569single nucleotide variantNM_000258.3(MYL3):c.572A>C (p.His191Pro)Hypertrophic cardiomyopathy [RCV003871836]uncertain significance34685826046858260Human2name
405740392CV3229224single nucleotide variantNM_000258.3(MYL3):c.502G>C (p.Glu168Gln)Hypertrophic cardiomyopathy [RCV004014967]uncertain significance34685844146858441Human2name
405695828CV3230204single nucleotide variantNM_000258.3(MYL3):c.431G>A (p.Gly144Asp)Hypertrophic cardiomyopathy [RCV004008123]uncertain significance34685952546859525Human2name
405732117CV3231563single nucleotide variantNM_000258.3(MYL3):c.572A>G (p.His191Arg)Hypertrophic cardiomyopathy [RCV004013963]uncertain significance34685826046858260Human2name
405757272CV3233072single nucleotide variantNM_000258.3(MYL3):c.556G>A (p.Glu186Lys)Hypertrophic cardiomyopathy [RCV004017024]uncertain significance34685838746858387Human2name
405757280CV3233073single nucleotide variantNM_000258.3(MYL3):c.541G>A (p.Gly181Ser)Hypertrophic cardiomyopathy [RCV004017025]uncertain significance34685840246858402Human2name
405753750CV3234436single nucleotide variantNM_000258.3(MYL3):c.394G>A (p.Asp132Asn)Hypertrophic cardiomyopathy [RCV004016486]uncertain significance34685956246859562Human2name
405714793CV3391546single nucleotide variantNM_000258.3(MYL3):c.512A>C (p.Lys171Thr)Cardiovascular phenotype [RCV004523038]uncertain significance34685843146858431Humanname
408394848CV3522096single nucleotide variantNM_000258.3(MYL3):c.488G>C (p.Arg163Thr)Hypertrophic cardiomyopathy [RCV004765095]uncertain significance34685845546858455Human2name
596943127CV3546513single nucleotide variantNM_000258.3(MYL3):c.330C>A (p.Asp110Glu)Hypertrophic cardiomyopathy [RCV004807637]uncertain significance34685962646859626Human2name
12741234CV359471single nucleotide variantNM_000258.3(MYL3):c.435T>A (p.Asn145Lys)Hypertrophic cardiomyopathy [RCV003586180]|not specified [RCV000414486]uncertain significance34685952146859521Human2name
12741256CV359532single nucleotide variantNM_000258.3(MYL3):c.482G>A (p.Gly161Asp)not specified [RCV000414548]uncertain significance34685846146858461Humanname
12848068CV367627single nucleotide variantNM_000258.3(MYL3):c.413G>A (p.Arg138Gln)Cardiomyopathy [RCV001524794]|Cardiovascular phenotype [RCV002329003]|Hypertrophic cardiomyopathy [RCV001309150]|not provided [RCV000444621]uncertain significance34685954346859543Human4name
597961371CV3753232single nucleotide variantNM_000258.3(MYL3):c.304G>A (p.Glu102Lys)Hypertrophic cardiomyopathy [RCV005081732]|not specified [RCV005241089]uncertain significance34686067946860679Human2name
597960218CV3756156single nucleotide variantNM_000258.3(MYL3):c.410T>C (p.Leu137Pro)Hypertrophic cardiomyopathy [RCV005081472]uncertain significance34685954646859546Human2name
597941578CV3757424single nucleotide variantNM_000258.3(MYL3):c.574A>G (p.Ile192Val)Hypertrophic cardiomyopathy [RCV005077610]uncertain significance34685825846858258Human2name
597939963CV3785243single nucleotide variantNM_000258.3(MYL3):c.519G>A (p.Met173Ile)Hypertrophic cardiomyopathy [RCV005133348]uncertain significance34685842446858424Human2name
597941468CV3785798single nucleotide variantNM_000258.3(MYL3):c.557A>G (p.Glu186Gly)Hypertrophic cardiomyopathy [RCV005133691]uncertain significance34685838646858386Human2name
597961030CV3794801single nucleotide variantNM_000258.3(MYL3):c.302A>G (p.Gln101Arg)Hypertrophic cardiomyopathy [RCV005138706]uncertain significance34686068146860681Human2name
8602584CV40438single nucleotide variantNM_000258.3(MYL3):c.466G>A (p.Val156Met)Cardiomyopathy [RCV000769165]|Cardiovascular phenotype [RCV000617202]|Hypertrophic cardiomyopathy 8 [RCV001807740]|Hypertrophic cardiomyopathy [RCV000196294]|Increased left ventricular wall thickness [RCV000148717]|MYL3-related disorder [RCV004730856]|not providpathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided34685949046859490Human6name , trait , alternate_id
8602585CV40439single nucleotide variantNM_000258.3(MYL3):c.517A>G (p.Met173Val)Cardiomyopathy [RCV001189931]|Cardiovascular phenotype [RCV004018673]|Hypertrophic cardiomyopathy 8 [RCV002482904]|Hypertrophic cardiomyopathy [RCV001857366]|not provided [RCV000024470]|not specified [RCV000036029]pathogenic|uncertain significance|not provided34685842646858426Human5name , alternate_id
8602588CV40442single nucleotide variantNM_000258.3(MYL3):c.454G>A (p.Glu152Lys)Hypertrophic cardiomyopathy [RCV000628893]|not provided [RCV000024473]likely pathogenic|uncertain significance|not provided34685950246859502Human2name
8602589CV40443single nucleotide variantNM_000258.3(MYL3):c.463C>G (p.His155Asp)Hypertrophic cardiomyopathy 8 [RCV005054141]|Hypertrophic cardiomyopathy [RCV000999575]|not provided [RCV000024474]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided34685949346859493Human3name , alternate_id
8602590CV40444single nucleotide variantNM_000258.3(MYL3):c.382G>T (p.Gly128Cys)not provided [RCV000024475]not provided34685957446859574Humanname
12907035CV414942single nucleotide variantNM_000258.3(MYL3):c.449G>A (p.Gly150Asp)Cardiovascular phenotype [RCV003168990]|Hypertrophic cardiomyopathy 8 [RCV002481549]|Hypertrophic cardiomyopathy [RCV004003421]|not provided [RCV000489948]uncertain significance34685950746859507Human3name , alternate_id
13487890CV452439single nucleotide variantNM_000258.3(MYL3):c.412C>T (p.Arg138Trp)Hypertrophic cardiomyopathy [RCV000532064]uncertain significance34685954446859544Human2name
13503362CV452743single nucleotide variantNM_000258.3(MYL3):c.424A>G (p.Lys142Glu)Hypertrophic cardiomyopathy [RCV000542221]|not provided [RCV000786177]uncertain significance34685953246859532Human2name
8602993CV45310single nucleotide variantNM_000258.3(MYL3):c.530A>G (p.Glu177Gly)Cardiomyopathy [RCV000777869]|Cardiovascular phenotype [RCV000619160]|Hypertrophic cardiomyopathy 8 [RCV002490422]|Hypertrophic cardiomyopathy [RCV000475456]|MYL3-related disorder [RCV004752726]|Primary familial hypertrophic cardiomyopathy [RCV000030327]|not propathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters34685841346858413Human7name , trait , alternate_id
13520000CV487035single nucleotide variantNM_000258.3(MYL3):c.397T>A (p.Phe133Ile)Cardiomyopathy [RCV003532178]|not provided [RCV000586958]uncertain significance34685955946859559Human2name
8605949CV52292single nucleotide variantNM_000258.3(MYL3):c.338C>T (p.Thr113Ile)Cardiomyopathy [RCV001188095]|Hypertrophic cardiomyopathy [RCV002513366]|not specified [RCV000036021]uncertain significance34685961846859618Human4name
8605950CV52293single nucleotide variantNM_000258.3(MYL3):c.446T>C (p.Met149Thr)Cardiovascular phenotype [RCV002326733]|Hypertrophic cardiomyopathy 8 [RCV001807756]|Hypertrophic cardiomyopathy [RCV001852735]|not specified [RCV000036023]likely pathogenic|uncertain significance34685951046859510Human3name , alternate_id
8605951CV52294single nucleotide variantNM_000258.3(MYL3):c.460C>T (p.Arg154Cys)Cardiomyopathy [RCV001185062]|Cardiovascular phenotype [RCV000621670]|Hypertrophic cardiomyopathy 8 [RCV004546418]|Hypertrophic cardiomyopathy [RCV000231173]|Primary familial hypertrophic cardiomyopathy [RCV000148718]|not provided [RCV004696648]|not specified [RCV000036024]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance34685949646859496Human7name , alternate_id
8605954CV52297single nucleotide variantNM_000258.3(MYL3):c.520G>C (p.Ala174Pro)Cardiomyopathy [RCV001170902]|Hypertrophic cardiomyopathy [RCV003996218]|not specified [RCV000036030]uncertain significance34685842346858423Human4name
8605955CV52298single nucleotide variantNM_000258.3(MYL3):c.532G>A (p.Asp178Asn)Cardiomyopathy [RCV000769163]|Cardiovascular phenotype [RCV002345285]|Hypertrophic cardiomyopathy 8 [RCV005394218]|Hypertrophic cardiomyopathy [RCV000262754]|not provided [RCV000587491]|not specified [RCV000036031]likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance34685841146858411Human5name , alternate_id
13810867CV559006single nucleotide variantNM_000258.3(MYL3):c.347C>T (p.Pro116Leu)Hypertrophic cardiomyopathy [RCV000688382]uncertain significance34685960946859609Human2name
13812782CV559521single nucleotide variantNM_000258.3(MYL3):c.518T>C (p.Met173Thr)Cardiovascular phenotype [RCV002334375]|Hypertrophic cardiomyopathy [RCV000703925]|not provided [RCV001555473]uncertain significance34685842546858425Human2name
13807021CV576329single nucleotide variantNM_000258.3(MYL3):c.481G>T (p.Gly161Cys)Hypertrophic cardiomyopathy 8 [RCV000710037]uncertain significance34685947546859475Human1name , alternate_id
14688503CV614897single nucleotide variantNM_000258.3(MYL3):c.419T>G (p.Phe140Cys)Cardiomyopathy [RCV000769166]uncertain significance34685953746859537Human2name
14692606CV616927single nucleotide variantNM_000258.3(MYL3):c.521C>T (p.Ala174Val)Cardiomyopathy [RCV000774149]uncertain significance34685842246858422Human2name
14739786CV631458single nucleotide variantNM_000258.3(MYL3):c.539A>G (p.Asn180Ser)Cardiomyopathy [RCV001170901]|Hypertrophic cardiomyopathy [RCV000805087]uncertain significance34685840446858404Human4name
26902877CV828189single nucleotide variantNM_000258.3(MYL3):c.466G>C (p.Val156Leu)Hypertrophic cardiomyopathy [RCV001052257]|Restrictive cardiomyopathy [RCV005054321]uncertain significance34685949046859490Human4name
26901974CV828190single nucleotide variantNM_000258.3(MYL3):c.349A>G (p.Met117Val)Hypertrophic cardiomyopathy [RCV001045291]uncertain significance34685960746859607Human2name
34897980CV909651single nucleotide variantNM_000258.3(MYL3):c.577A>G (p.Met193Val)Cardiomyopathy [RCV001186862]|Cardiovascular phenotype [RCV004986912]|Hypertrophic cardiomyopathy [RCV004008642]|not provided [RCV003332298]uncertain significance34685825546858255Human4name
34893487CV909655single nucleotide variantNM_000258.3(MYL3):c.502G>A (p.Glu168Lys)Cardiomyopathy [RCV001176583]|Cardiovascular phenotype [RCV004986868]|Hypertrophic cardiomyopathy [RCV004006309]uncertain significance34685844146858441Human4name
34895903CV909656single nucleotide variantNM_000258.3(MYL3):c.499G>A (p.Asp167Asn)Cardiomyopathy [RCV001178262]|Cardiovascular phenotype [RCV002339445]|Hypertrophic cardiomyopathy [RCV004006458]uncertain significance34685844446858444Human4name
34890144CV909657single nucleotide variantNM_000258.3(MYL3):c.488G>A (p.Arg163Lys)Cardiomyopathy [RCV001181923]|Hypertrophic cardiomyopathy [RCV004807363]uncertain significance34685845546858455Human4name
34890458CV909658single nucleotide variantNM_000258.3(MYL3):c.484G>A (p.Glu162Lys)Cardiomyopathy [RCV001182093]|Hypertrophic cardiomyopathy [RCV004008271]|not provided [RCV005057022]uncertain significance34685845946858459Human4name
34893779CV909660single nucleotide variantNM_000258.3(MYL3):c.476C>T (p.Thr159Met)Cardiomyopathy [RCV001176824]|Cardiovascular phenotype [RCV002339439]|Hypertrophic cardiomyopathy [RCV001318351]|not provided [RCV001700985]uncertain significance34685948046859480Human4name
34900571CV909663single nucleotide variantNM_000258.3(MYL3):c.370A>T (p.Asn124Tyr)Cardiomyopathy [RCV001190297]|Cardiovascular phenotype [RCV002348635]|Hypertrophic cardiomyopathy [RCV004010423]uncertain significance34685958646859586Human4name
34897732CV909664single nucleotide variantNM_000258.3(MYL3):c.367A>G (p.Lys123Glu)Cardiomyopathy [RCV001186698]|Hypertrophic cardiomyopathy [RCV003586285]conflicting interpretations of pathogenicity|uncertain significance34685958946859589Human4name
34896716CV909665single nucleotide variantNM_000258.3(MYL3):c.320A>G (p.Lys107Arg)Cardiomyopathy [RCV001185855]|Hypertrophic cardiomyopathy [RCV005057045]uncertain significance34685963646859636Human4name
38494669CV923219single nucleotide variantNM_000258.3(MYL3):c.579G>A (p.Met193Ile)Hypertrophic cardiomyopathy [RCV001225138]uncertain significance34685825346858253Human2name
38457147CV953496single nucleotide variantNM_000258.3(MYL3):c.508G>C (p.Glu170Gln)Cardiovascular phenotype [RCV002339681]|Hypertrophic cardiomyopathy [RCV001245994]uncertain significance34685843546858435Human2name
126764357CV989607single nucleotide variantNM_000258.3(MYL3):c.358C>T (p.His120Tyr)Hypertrophic cardiomyopathy [RCV001301058]uncertain significance34685959846859598Human2name
38457170CV953499indelNM_000258.3(MYL3):c.1_2delinsG (p.Met1fs)Hypertrophic cardiomyopathy 8 [RCV002499421]|Hypertrophic cardiomyopathy [RCV003586290]|not provided [RCV001751495]uncertain significance34686338946863390Humanname , alternate_id
405103901CV2985849duplicationNM_000258.3(MYL3):c.563_566dup (p.Lys190fs)Hypertrophic cardiomyopathy [RCV003749819]uncertain significance34685826546858266Human2name
405729780CV3231125deletionNM_000258.3(MYL3):c.485_501del (p.Glu162fs)Hypertrophic cardiomyopathy [RCV004013706]uncertain significance34685844246858458Human2name
38475715CV931964duplicationNM_000258.3(MYL3):c.401_405dup (p.Gly136fs)Hypertrophic cardiomyopathy [RCV001204371]uncertain significance34685955046859551Human2name
405725412CV3230516insertionNM_000258.3(MYL3):c.455_456insT (p.Glu152fs)Hypertrophic cardiomyopathy [RCV004013269]uncertain significance34685950046859501Human2name
405725419CV3230517insertionNM_000258.3(MYL3):c.458_459insCCAGCAAACCATTACTGCATGTCACCACG (p.Arg154fs)Hypertrophic cardiomyopathy [RCV004013270]uncertain significance34685949746859498Human2name
155986756CV2056144indelNM_000258.3(MYL3):c.454_458delinsCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCACG (p.Glu152_Leu153delinsLeuThrArgProSerHisPheSerIleGlyValSerAlaTyrHisGlnGlyAlaTrpGlnIleSerMetAspProAspAlaProAlaAsnHisTyrHypertrophic cardiomyopathy [RCV002819016]uncertain significance34685949846859502Humanname
405725403CV3230515insertionNM_000258.3(MYL3):c.453_454insCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCA (p.Ala151_Glu152insLeuThrArgProSerHisPheSerIleGlyValSerAlaTyrHisGlnGlyAlaTrpGlnIleSerMetAspPro)Hypertrophic cardiomyopathy [RCV004013268]uncertain significance34685950246859503Human2name