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Variants search result for All species
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488 records found for search term Ilk
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
12837121CV374197single nucleotide variantNM_004517.4(ILK):c.*2A>Gnot specified [RCV000424618]likely benign1166106136610613Humanname
127299843CV1156794variationNM_004517.4(ILK):c.448+9=Primary familial hypertrophic cardiomyopathy [RCV001513850]|not provided [RCV001529746]|not specified [RCV001727861]benign|likely benign1166087996608802Humanname
150532453CV1309202single nucleotide variantNM_004517.4(ILK):c.*61C>Tnot provided [RCV001752883]likely benign1166106726610672Humanname
13537983CV504301single nucleotide variantNM_004517.4(ILK):c.-16G>Anot specified [RCV000611177]likely benign1166042566604256Humanname
126920882CV1047390single nucleotide variantNM_004517.4(ILK):c.89+6C>TPrimary familial hypertrophic cardiomyopathy [RCV001363143]uncertain significance1166043666604366Human1name
8691332CV141292single nucleotide variantNM_004517.4(ILK):c.-108T>Cnot specified [RCV000125416]benign1166038076603807Humanname
402468796CV3027847single nucleotide variantNM_004517.4(ILK):c.89+8G>TPrimary familial hypertrophic cardiomyopathy [RCV003623535]likely benign1166043686604368Human1name
12843166CV371588single nucleotide variantNM_004517.4(ILK):c.-113G>Tnot specified [RCV000435740]likely benign1166038026603802Humanname
12843177CV371590single nucleotide variantNM_004517.4(ILK):c.-105A>Gnot specified [RCV000435756]likely benign1166038106603810Humanname
12838942CV372281single nucleotide variantNM_004517.4(ILK):c.-109C>Tnot specified [RCV000427901]likely benign1166038066603806Humanname
12840000CV372507single nucleotide variantNM_004517.4(ILK):c.89+3G>Anot provided [RCV000429863]likely benign1166043636604363Humanname
14719245CV656073single nucleotide variantNM_004517.4(ILK):c.-129G>Tnot provided [RCV000830691]benign1166037866603786Humanname
15146825CV690008single nucleotide variantNM_004517.4(ILK):c.90-5C>TPrimary familial hypertrophic cardiomyopathy [RCV001504053]likely benign1166080416608041Human1name
126747541CV1030405single nucleotide variantNM_004517.4(ILK):c.256-7G>APrimary familial hypertrophic cardiomyopathy [RCV001337486]uncertain significance1166083876608387Human1name
150535066CV1306800single nucleotide variantNM_004517.4(ILK):c.352-4C>Gnot provided [RCV001757798]likely benign1166086906608690Humanname
151804606CV1485607single nucleotide variantNM_004517.4(ILK):c.856+1G>APrimary familial hypertrophic cardiomyopathy [RCV002048291]uncertain significance1166096406609640Human1name
151770244CV1502430single nucleotide variantNM_004517.4(ILK):c.856+3G>APrimary familial hypertrophic cardiomyopathy [RCV001896267]uncertain significance1166096426609642Human1name
152051207CV1523421single nucleotide variantNM_004517.4(ILK):c.90-17T>CPrimary familial hypertrophic cardiomyopathy [RCV002127274]benign1166080296608029Human1name
152170031CV1610680single nucleotide variantNM_004517.4(ILK):c.619-9G>APrimary familial hypertrophic cardiomyopathy [RCV002142987]likely benign1166092906609290Human1name
152064525CV1654278single nucleotide variantNM_004517.4(ILK):c.352-8C>TPrimary familial hypertrophic cardiomyopathy [RCV002190965]likely benign1166086866608686Human1name
152047822CV1656791single nucleotide variantNM_004517.4(ILK):c.89+13G>APrimary familial hypertrophic cardiomyopathy [RCV002189032]likely benign1166043736604373Human1name
156366601CV1906496single nucleotide variantNM_004517.4(ILK):c.618+5C>GPrimary familial hypertrophic cardiomyopathy [RCV003092105]uncertain significance1166091616609161Human1name
156306918CV2079851single nucleotide variantNM_004517.4(ILK):c.449-3T>CPrimary familial hypertrophic cardiomyopathy [RCV002857452]uncertain significance1166088816608881Human1name
11347826CV241205single nucleotide variantNM_004517.4(ILK):c.619-6C>TPrimary familial hypertrophic cardiomyopathy [RCV000233448]|not provided [RCV001092690]|not specified [RCV004020814]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1166092936609293Human1name
402523480CV2870084single nucleotide variantNM_004517.4(ILK):c.729-3T>CPrimary familial hypertrophic cardiomyopathy [RCV003511022]uncertain significance1166095096609509Human1name
402465270CV2965604duplicationNM_004517.4(ILK):c.448+4dupPrimary familial hypertrophic cardiomyopathy [RCV003622614]uncertain significance1166087926608793Human1name
405235935CV3168942single nucleotide variantNM_004517.4(ILK):c.978+3G>APrimary familial hypertrophic cardiomyopathy [RCV003866221]uncertain significance1166098486609848Human1name
12843771CV372288single nucleotide variantNM_004517.4(ILK):c.255+4C>TPrimary familial hypertrophic cardiomyopathy [RCV000476681]|not provided [RCV001721370]likely benign|uncertain significance1166082156608215Human1name
12836662CV374191single nucleotide variantNM_004517.4(ILK):c.729-7C>AILK-related disorder [RCV003912706]|Primary familial hypertrophic cardiomyopathy [RCV000475855]|not provided [RCV001703864]likely benign1166095056609505Human2name , trait , alternate_id
597921863CV3843150single nucleotide variantNM_004517.4(ILK):c.728+8A>CPrimary familial hypertrophic cardiomyopathy [RCV005184442]likely benign1166094166609416Human1name
15145794CV690009single nucleotide variantNM_004517.4(ILK):c.352-9T>GPrimary familial hypertrophic cardiomyopathy [RCV000866152]likely benign1166086856608685Human1name
26902983CV851902single nucleotide variantNM_004517.4(ILK):c.255+3A>GPrimary familial hypertrophic cardiomyopathy [RCV001069587]uncertain significance1166082146608214Human1name
127245930CV1078513single nucleotide variantNM_004517.4(ILK):c.1210-5C>TPrimary familial hypertrophic cardiomyopathy [RCV001393971]likely benign1166104576610457Human1name
150486368CV1274050single nucleotide variantNM_004517.4(ILK):c.1210-4G>APrimary familial hypertrophic cardiomyopathy [RCV002073259]|not provided [RCV001698920]benign|likely benign1166104586610458Human1name
150467215CV1277533single nucleotide variantNM_004517.4(ILK):c.90-234G>Anot provided [RCV001710828]benign1166078126607812Humanname
150543320CV1308939single nucleotide variantNM_004517.4(ILK):c.-92-95A>Gnot provided [RCV001769852]likely benign1166040856604085Humanname
151818744CV1390622single nucleotide variantNM_004517.4(ILK):c.1210-2A>GPrimary familial hypertrophic cardiomyopathy [RCV001954545]uncertain significance1166104606610460Human1name
151723238CV1424898single nucleotide variantNM_004517.4(ILK):c.255+19G>APrimary familial hypertrophic cardiomyopathy [RCV001891397]likely benign1166082306608230Human1name
151832358CV1455882single nucleotide variantNM_004517.4(ILK):c.1078+5G>APrimary familial hypertrophic cardiomyopathy [RCV002050846]uncertain significance1166100406610040Human1name
151812480CV1498058single nucleotide variantNM_004517.4(ILK):c.857-10C>TPrimary familial hypertrophic cardiomyopathy [RCV001953962]likely benign1166097146609714Human1name
152081483CV1546762single nucleotide variantNM_004517.4(ILK):c.978+10C>GPrimary familial hypertrophic cardiomyopathy [RCV002130871]likely benign1166098556609855Human1name
152116293CV1566869single nucleotide variantNM_004517.4(ILK):c.856+14T>CPrimary familial hypertrophic cardiomyopathy [RCV002097533]likely benign1166096536609653Human1name
152096881CV1597555single nucleotide variantNM_004517.4(ILK):c.449-11T>CPrimary familial hypertrophic cardiomyopathy [RCV002114810]likely benign1166088736608873Human1name
152066886CV1601789single nucleotide variantNM_004517.4(ILK):c.449-15G>APrimary familial hypertrophic cardiomyopathy [RCV002168785]likely benign1166088696608869Human1name
152053045CV1607329single nucleotide variantNM_004517.4(ILK):c.448+11C>GPrimary familial hypertrophic cardiomyopathy [RCV002109216]likely benign1166088016608801Human1name
152138748CV1645351single nucleotide variantNM_004517.4(ILK):c.351+18A>GPrimary familial hypertrophic cardiomyopathy [RCV002137902]likely benign1166085076608507Human1name
152036647CV1645985single nucleotide variantNM_004517.4(ILK):c.619-11C>TPrimary familial hypertrophic cardiomyopathy [RCV002205699]benign1166092886609288Human1name
152126424CV1646348single nucleotide variantNM_004517.4(ILK):c.533-14G>APrimary familial hypertrophic cardiomyopathy [RCV002217468]likely benign1166090576609057Human1name
152159603CV1649851single nucleotide variantNM_004517.4(ILK):c.979-20A>GPrimary familial hypertrophic cardiomyopathy [RCV002159400]likely benign1166099166609916Human1name
152054082CV1665375single nucleotide variantNM_004517.4(ILK):c.619-18C>GPrimary familial hypertrophic cardiomyopathy [RCV002089500]likely benign1166092816609281Human1name
156414558CV1912526single nucleotide variantNM_004517.4(ILK):c.729-20C>GPrimary familial hypertrophic cardiomyopathy [RCV002588675]uncertain significance1166094926609492Human1name
156364213CV1934857single nucleotide variantNM_004517.4(ILK):c.729-15C>TPrimary familial hypertrophic cardiomyopathy [RCV002651844]likely benign1166094976609497Human1name
10055782CV198367deletionNM_004517.4(ILK):c.448+12delCardiomyopathy [RCV000183455]|not specified [RCV000611093]benign|no classifications from unflagged records1166087996608799Human2name
155953061CV2043835single nucleotide variantNM_004517.4(ILK):c.856+16G>TPrimary familial hypertrophic cardiomyopathy [RCV002775876]likely benign1166096556609655Human1name
156023299CV2184742single nucleotide variantNM_004517.4(ILK):c.532+13T>CPrimary familial hypertrophic cardiomyopathy [RCV003035838]likely benign1166089806608980Human1name
11094971CV230223single nucleotide variantNM_004517.4(ILK):c.532+14G>Anot specified [RCV000221726]likely benign1166089816608981Humanname
11089923CV230224single nucleotide variantNM_004517.4(ILK):c.618+10G>Anot specified [RCV000215415]likely benign1166091666609166Humanname
11091280CV230226single nucleotide variantNM_004517.4(ILK):c.857-12G>APrimary familial hypertrophic cardiomyopathy [RCV002057111]|not provided [RCV004705046]|not specified [RCV000217112]benign|likely benign|conflicting interpretations of pathogenicity1166097126609712Human1name
402523187CV2876946single nucleotide variantNM_004517.4(ILK):c.255+17T>GPrimary familial hypertrophic cardiomyopathy [RCV003510998]likely benign1166082286608228Human1name
404979585CV2889460deletionNM_004517.4(ILK):c.618+19delPrimary familial hypertrophic cardiomyopathy [RCV003511274]likely benign1166091756609175Human1name
402507219CV2912468single nucleotide variantNM_004517.4(ILK):c.979-14T>CPrimary familial hypertrophic cardiomyopathy [RCV003509407]likely benign1166099226609922Human1name
402507758CV2915855single nucleotide variantNM_004517.4(ILK):c.857-12G>CPrimary familial hypertrophic cardiomyopathy [RCV003509441]likely benign1166097126609712Human1name
405169300CV2950407single nucleotide variantNM_004517.4(ILK):c.978+13G>APrimary familial hypertrophic cardiomyopathy [RCV003621912]likely benign1166098586609858Human1name
402465071CV2967468single nucleotide variantNM_004517.4(ILK):c.619-13A>CPrimary familial hypertrophic cardiomyopathy [RCV003622508]likely benign1166092866609286Human1name
402467555CV3009186single nucleotide variantNM_004517.4(ILK):c.729-14C>TPrimary familial hypertrophic cardiomyopathy [RCV003623205]likely benign1166094986609498Human1name
402469629CV3044105single nucleotide variantNM_004517.4(ILK):c.533-16C>TPrimary familial hypertrophic cardiomyopathy [RCV003623761]likely benign1166090556609055Human1name
12843547CV371599single nucleotide variantNM_004517.4(ILK):c.351+10C>TPrimary familial hypertrophic cardiomyopathy [RCV001460751]|not specified [RCV000436407]likely benign1166084996608499Human1name
12833372CV372519single nucleotide variantNM_004517.4(ILK):c.255+10A>GPrimary familial hypertrophic cardiomyopathy [RCV001453520]|not provided [RCV001704332]likely benign1166082216608221Human1name
12836013CV374185single nucleotide variantNM_004517.4(ILK):c.351+19A>TPrimary familial hypertrophic cardiomyopathy [RCV002059743]|not specified [RCV000422672]likely benign1166085086608508Human1name
597846138CV3753061single nucleotide variantNM_004517.4(ILK):c.728+17C>TPrimary familial hypertrophic cardiomyopathy [RCV005087286]likely benign1166094256609425Human1name
597875463CV3766289single nucleotide variantNM_004517.4(ILK):c.256-14G>TPrimary familial hypertrophic cardiomyopathy [RCV005108421]likely benign1166083806608380Human1name
597882334CV3803114single nucleotide variantNM_004517.4(ILK):c.533-11C>TPrimary familial hypertrophic cardiomyopathy [RCV005149965]likely benign1166090606609060Human1name
597856814CV3849774single nucleotide variantNM_004517.4(ILK):c.729-10C>TPrimary familial hypertrophic cardiomyopathy [RCV005195283]likely benign1166095026609502Human1name
13526617CV503350single nucleotide variantNM_004517.4(ILK):c.728+13G>APrimary familial hypertrophic cardiomyopathy [RCV002529575]|not specified [RCV000604365]likely benign1166094216609421Human1name
13540980CV503361duplicationNM_004517.4(ILK):c.979-17dupPrimary familial hypertrophic cardiomyopathy [RCV003621559]|not specified [RCV000615494]likely benign1166099186609919Human1name
13537174CV503366single nucleotide variantNM_004517.4(ILK):c.1079-8C>TPrimary familial hypertrophic cardiomyopathy [RCV001860260]|not specified [RCV000610031]likely benign|uncertain significance1166101406610140Human1name
14729323CV665112single nucleotide variantNM_004517.4(ILK):c.-92-39A>Gnot provided [RCV000835168]likely benign1166041416604141Humanname
14722111CV665764single nucleotide variantNM_004517.4(ILK):c.255+89G>Anot provided [RCV000831961]benign1166083006608300Humanname
14718539CV665958single nucleotide variantNM_004517.4(ILK):c.618+23T>Cnot provided [RCV000830425]benign1166091796609179Humanname
14724312CV666108single nucleotide variantNM_004517.4(ILK):c.351+39G>Anot provided [RCV000832927]likely benign1166085286608528Humanname
14742480CV666117single nucleotide variantNM_004517.4(ILK):c.619-12C>APrimary familial hypertrophic cardiomyopathy [RCV005056620]|not provided [RCV000841422]likely benign1166092876609287Human1name
15189785CV775935single nucleotide variantNM_004517.4(ILK):c.857-10C>GPrimary familial hypertrophic cardiomyopathy [RCV001444951]likely benign1166097146609714Human1name
150542831CV1306623single nucleotide variantNM_004517.4(ILK):c.1209+52A>Cnot provided [RCV001769687]likely benign1166103306610330Humanname
150536140CV1309147single nucleotide variantNM_004517.4(ILK):c.-93+150G>Cnot provided [RCV001759354]likely benign1166039726603972Humanname
8691335CV141295single nucleotide variantNM_004517.4(ILK):c.1079-18C>TPrimary familial hypertrophic cardiomyopathy [RCV002055571]|not provided [RCV004718004]|not specified [RCV000125419]benign1166101306610130Human1name
152133292CV1544891single nucleotide variantNM_004517.4(ILK):c.1210-20T>APrimary familial hypertrophic cardiomyopathy [RCV002177088]likely benign1166104426610442Human1name
152041195CV1553475single nucleotide variantNM_004517.4(ILK):c.1209+13C>TPrimary familial hypertrophic cardiomyopathy [RCV002087984]likely benign1166102916610291Human1name
152142283CV1586602single nucleotide variantNM_004517.4(ILK):c.1079-15G>APrimary familial hypertrophic cardiomyopathy [RCV002178214]likely benign1166101336610133Human1name
152094265CV1634481single nucleotide variantNM_004517.4(ILK):c.1210-13C>GPrimary familial hypertrophic cardiomyopathy [RCV002213149]likely benign1166104496610449Human1name
156285770CV1964579single nucleotide variantNM_004517.4(ILK):c.1210-11T>CPrimary familial hypertrophic cardiomyopathy [RCV002577633]likely benign1166104516610451Human1name
155917157CV2031893single nucleotide variantNM_004517.4(ILK):c.1210-11T>GPrimary familial hypertrophic cardiomyopathy [RCV002727193]likely benign1166104516610451Human1name
156018161CV2121530single nucleotide variantNM_004517.4(ILK):c.1210-17T>APrimary familial hypertrophic cardiomyopathy [RCV002948638]likely benign1166104456610445Human1name
156018025CV2173916single nucleotide variantNM_004517.4(ILK):c.1210-18T>CPrimary familial hypertrophic cardiomyopathy [RCV003035587]likely benign1166104446610444Human1name
402466702CV2992069single nucleotide variantNM_004517.4(ILK):c.1209+15G>CPrimary familial hypertrophic cardiomyopathy [RCV003622983]likely benign1166102936610293Human1name
402464270CV3074698single nucleotide variantNM_004517.4(ILK):c.1209+18T>CPrimary familial hypertrophic cardiomyopathy [RCV003622357]likely benign1166102966610296Human1name
12844604CV372295single nucleotide variantNM_004517.4(ILK):c.1079-14C>Anot specified [RCV000438289]likely benign1166101346610134Humanname
597893602CV3833302single nucleotide variantNM_004517.4(ILK):c.1078+18G>TPrimary familial hypertrophic cardiomyopathy [RCV005179994]likely benign1166100536610053Human1name
14742975CV665115single nucleotide variantNM_004517.4(ILK):c.1079-10A>CILK-related disorder [RCV003918307]|Primary familial hypertrophic cardiomyopathy [RCV001451940]|not provided [RCV000841749]|not specified [RCV001727804]benign|likely benign1166101386610138Human2name , trait , alternate_id
402465309CV2972967duplicationNM_004517.4(ILK):c.252_255+9dupPrimary familial hypertrophic cardiomyopathy [RCV003622624]uncertain significance1166082026608203Human1name
155920136CV1991180single nucleotide variantNM_004517.4(ILK):c.15C>T (p.Phe5=)Primary familial hypertrophic cardiomyopathy [RCV002614520]likely benign1166042866604286Human1name
329379790CV2429941single nucleotide variantNM_004517.4(ILK):c.21G>A (p.Gln7=)not specified [RCV004245085]likely benign1166042926604292Humanname
12844094CV371596single nucleotide variantNM_004517.4(ILK):c.12T>A (p.Ile4=)Primary familial hypertrophic cardiomyopathy [RCV002521810]|not specified [RCV000437389]likely benign1166042836604283Human1name
126759040CV994662duplicationNM_004517.4(ILK):c.978+5_979-38dupPrimary familial hypertrophic cardiomyopathy [RCV001299376]uncertain significance1166098496609850Human1name
127327275CV1142576single nucleotide variantNM_004517.4(ILK):c.69G>C (p.Thr23=)Primary familial hypertrophic cardiomyopathy [RCV001486296]likely benign1166043406604340Human1name
155742843CV1806240single nucleotide variantNM_004517.4(ILK):c.52C>T (p.Leu18=)Primary familial hypertrophic cardiomyopathy [RCV003621634]|not specified [RCV004052367]likely benign1166043236604323Human1name
155710308CV1811631single nucleotide variantNM_004517.4(ILK):c.63C>T (p.Asp21=)Primary familial hypertrophic cardiomyopathy [RCV003098233]|not specified [RCV004053940]likely benign1166043346604334Human1name
155728990CV1822713single nucleotide variantNM_004517.4(ILK):c.72G>A (p.Glu24=)not specified [RCV004055870]likely benign1166043436604343Humanname
156300027CV1929484deletionNM_004517.4(ILK):c.449-15_449-12delPrimary familial hypertrophic cardiomyopathy [RCV002647592]likely benign1166088676608870Human1name
156329775CV2116393microsatelliteNM_004517.4(ILK):c.618+16_618+18delPrimary familial hypertrophic cardiomyopathy [RCV002938300]likely benign1166091696609171Humanname
405172697CV3071025deletionNM_004517.4(ILK):c.857-19_857-17delPrimary familial hypertrophic cardiomyopathy [RCV003622275]likely benign1166097056609707Human1name
597775178CV3686640single nucleotide variantNM_004517.4(ILK):c.48T>C (p.Val16=)not specified [RCV004929318]likely benign1166043196604319Humanname
597775189CV3686643single nucleotide variantNM_004517.4(ILK):c.42C>T (p.Val14=)not specified [RCV004929321]likely benign1166043136604313Humanname
597775193CV3686644single nucleotide variantNM_004517.4(ILK):c.39A>G (p.Ala13=)not specified [RCV004929322]likely benign1166043106604310Humanname
597775197CV3686645single nucleotide variantNM_004517.4(ILK):c.45C>G (p.Ala15=)not specified [RCV004929323]likely benign1166043166604316Humanname
597963375CV3791929single nucleotide variantNM_004517.4(ILK):c.75C>T (p.Asn25=)Primary familial hypertrophic cardiomyopathy [RCV005139485]likely benign1166043466604346Human1name
597975838CV3795956deletionNM_004517.4(ILK):c.255+16_255+18delPrimary familial hypertrophic cardiomyopathy [RCV005144787]likely benign1166082266608228Human1name
13494118CV461535single nucleotide variantNM_004517.4(ILK):c.36C>T (p.Asn12=)ILK-related disorder [RCV003905378]|Primary familial hypertrophic cardiomyopathy [RCV000558663]|not specified [RCV004023899]benign|likely benign1166043076604307Human2name , trait , alternate_id
15133212CV684264single nucleotide variantNM_004517.4(ILK):c.93C>T (p.Asp31=)Primary familial hypertrophic cardiomyopathy [RCV002064477]likely benign1166080496608049Human1name
26890369CV838776single nucleotide variantNM_004517.4(ILK):c.7G>C (p.Asp3His)Primary familial hypertrophic cardiomyopathy [RCV001059223]uncertain significance1166042786604278Human1name
127274908CV1100247single nucleotide variantNM_004517.4(ILK):c.171G>A (p.Gly57=)Primary familial hypertrophic cardiomyopathy [RCV001432115]|not specified [RCV004631703]likely benign1166081276608127Human1name
127302269CV1142577single nucleotide variantNM_004517.4(ILK):c.117C>T (p.His39=)Primary familial hypertrophic cardiomyopathy [RCV001499045]likely benign1166080736608073Human1name
127290046CV1142578single nucleotide variantNM_004517.4(ILK):c.207C>T (p.Thr69=)Primary familial hypertrophic cardiomyopathy [RCV001495862]likely benign1166081636608163Human1name
8691331CV141291single nucleotide variantNM_004517.4(ILK):c.297C>T (p.His99=)Primary familial hypertrophic cardiomyopathy [RCV001516882]|not provided [RCV004718001]|not specified [RCV000125415]benign|likely benign1166084356608435Human1name
152142360CV1538215single nucleotide variantNM_004517.4(ILK):c.111C>T (p.Pro37=)Primary familial hypertrophic cardiomyopathy [RCV002219542]|not specified [RCV004045672]likely benign1166080676608067Human1name
152094077CV1565689single nucleotide variantNM_004517.4(ILK):c.288G>A (p.Val96=)Primary familial hypertrophic cardiomyopathy [RCV002150966]|not specified [RCV004631972]likely benign1166084266608426Human1name
152113191CV1595336single nucleotide variantNM_004517.4(ILK):c.231T>C (p.His77=)Primary familial hypertrophic cardiomyopathy [RCV002116825]|not provided [RCV004706334]|not specified [RCV004045822]likely benign1166081876608187Human1name
9586842CV165550duplicationNM_004517.4(ILK):c.86dup (p.Asp31fs)Primary familial hypertrophic cardiomyopathy [RCV000143900]uncertain significance1166043566604357Human1name
155678615CV1840323single nucleotide variantNM_004517.4(ILK):c.207C>G (p.Thr69=)not specified [RCV004060255]likely benign1166081636608163Humanname
155709599CV1843927single nucleotide variantNM_004517.4(ILK):c.213G>A (p.Leu71=)not specified [RCV004060993]likely benign1166081696608169Humanname
155727887CV1845199single nucleotide variantNM_004517.4(ILK):c.246T>A (p.Ile82=)not specified [RCV004063928]likely benign1166082026608202Humanname
155674278CV1855747single nucleotide variantNM_004517.4(ILK):c.111C>A (p.Pro37=)Primary familial hypertrophic cardiomyopathy [RCV003102823]|not specified [RCV004063027]likely benign1166080676608067Human1name
155937015CV2135026single nucleotide variantNM_004517.4(ILK):c.261G>A (p.Leu87=)Primary familial hypertrophic cardiomyopathy [RCV002993802]|not specified [RCV004632131]likely benign1166083996608399Human1name
11091610CV230222single nucleotide variantNM_004517.4(ILK):c.252G>A (p.Gln84=)Primary familial hypertrophic cardiomyopathy [RCV001393025]|not provided [RCV001640335]|not specified [RCV000217512]likely benign1166082086608208Human1name
405689364CV3390111single nucleotide variantNM_004517.4(ILK):c.186A>C (p.Val62=)not specified [RCV004519032]likely benign1166081426608142Humanname
597775166CV3686637single nucleotide variantNM_004517.4(ILK):c.138C>A (p.Arg46=)not specified [RCV004929315]likely benign1166080946608094Humanname
597775170CV3686638single nucleotide variantNM_004517.4(ILK):c.157T>C (p.Leu53=)not specified [RCV004929316]likely benign1166081136608113Humanname
597775174CV3686639single nucleotide variantNM_004517.4(ILK):c.186A>G (p.Val62=)not specified [RCV004929317]likely benign1166081426608142Humanname
597775182CV3686641single nucleotide variantNM_004517.4(ILK):c.177G>A (p.Arg59=)not specified [RCV004929319]likely benign1166081336608133Humanname
597775186CV3686642single nucleotide variantNM_004517.4(ILK):c.132G>A (p.Glu44=)not specified [RCV004929320]likely benign1166080886608088Humanname
12840629CV372285single nucleotide variantNM_004517.4(ILK):c.219G>C (p.Leu73=)not specified [RCV000431078]likely benign1166081756608175Humanname
12839850CV372294single nucleotide variantNM_004517.4(ILK):c.279C>A (p.Ile93=)Primary familial hypertrophic cardiomyopathy [RCV001504425]|not specified [RCV000429587]likely benign1166084176608417Human1name
12834120CV374182single nucleotide variantNM_004517.4(ILK):c.282T>C (p.Asn94=)Primary familial hypertrophic cardiomyopathy [RCV000638618]|not provided [RCV001703546]|not specified [RCV004022307]benign|likely benign1166084206608420Human1name
597927225CV3778603duplicationNM_004517.4(ILK):c.29dup (p.Asn12fs)Primary familial hypertrophic cardiomyopathy [RCV005131126]uncertain significance1166042996604300Human1name
597881325CV3857411single nucleotide variantNM_004517.4(ILK):c.259T>C (p.Leu87=)Primary familial hypertrophic cardiomyopathy [RCV005199027]likely benign1166083976608397Human1name
13535821CV504305single nucleotide variantNM_004517.4(ILK):c.222A>T (p.Ala74=)not specified [RCV000608102]likely benign1166081786608178Humanname
14707730CV656074single nucleotide variantNM_004517.4(ILK):c.234A>G (p.Gly78=)Primary familial hypertrophic cardiomyopathy [RCV001435791]|not provided [RCV000826924]|not specified [RCV004927645]likely benign1166081906608190Human1name
15116330CV768613single nucleotide variantNM_004517.4(ILK):c.183T>C (p.Asn61=)Primary familial hypertrophic cardiomyopathy [RCV001443143]|not specified [RCV004029688]likely benign1166081396608139Human1name
126922356CV1047389single nucleotide variantNM_004517.4(ILK):c.35A>G (p.Asn12Ser)Primary familial hypertrophic cardiomyopathy [RCV001364575]uncertain significance1166043066604306Human1name
127230580CV1078509single nucleotide variantNM_004517.4(ILK):c.654C>T (p.Val218=)Primary familial hypertrophic cardiomyopathy [RCV001412531]|not specified [RCV005348504]likely benign1166093346609334Human1name
127277965CV1078510single nucleotide variantNM_004517.4(ILK):c.738G>C (p.Ser246=)Primary familial hypertrophic cardiomyopathy [RCV001408185]|not specified [RCV004038035]likely benign1166095216609521Human1name
127271125CV1100248single nucleotide variantNM_004517.4(ILK):c.522C>T (p.Arg174=)Primary familial hypertrophic cardiomyopathy [RCV001441708]likely benign1166089576608957Human1name
127233025CV1100249single nucleotide variantNM_004517.4(ILK):c.861C>T (p.Phe287=)Primary familial hypertrophic cardiomyopathy [RCV001421563]|not specified [RCV004038195]likely benign1166097286609728Human1name
127232117CV1100250single nucleotide variantNM_004517.4(ILK):c.909G>A (p.Arg303=)Primary familial hypertrophic cardiomyopathy [RCV001421154]|not specified [RCV004038189]likely benign1166097766609776Human1name
127292675CV1121731single nucleotide variantNM_004517.4(ILK):c.555C>T (p.His185=)Primary familial hypertrophic cardiomyopathy [RCV001459007]|not specified [RCV004038569]likely benign1166090936609093Human1name
127334666CV1121732single nucleotide variantNM_004517.4(ILK):c.885G>A (p.Val295=)Primary familial hypertrophic cardiomyopathy [RCV001473738]likely benign1166097526609752Human1name
127330398CV1142579single nucleotide variantNM_004517.4(ILK):c.801C>T (p.Leu267=)Primary familial hypertrophic cardiomyopathy [RCV001488136]|not specified [RCV004037287]likely benign1166095846609584Human1name
127301890CV1142580single nucleotide variantNM_004517.4(ILK):c.930A>T (p.Thr310=)Primary familial hypertrophic cardiomyopathy [RCV001478819]likely benign1166097976609797Human1name
150479959CV1282445single nucleotide variantNM_004517.4(ILK):c.906A>G (p.Ala302=)Primary familial hypertrophic cardiomyopathy [RCV002073358]|not provided [RCV001714553]|not specified [RCV004039971]benign|likely benign1166097736609773Human1name
151858640CV1403537single nucleotide variantNM_004517.4(ILK):c.79C>A (p.Leu27Ile)Primary familial hypertrophic cardiomyopathy [RCV001996844]uncertain significance1166043506604350Human1name
8691333CV141293single nucleotide variantNM_004517.4(ILK):c.819G>A (p.Pro273=)Primary familial hypertrophic cardiomyopathy [RCV001516883]|not provided [RCV004718002]|not specified [RCV000125417]benign|likely benign1166096026609602Human1name
8691334CV141294single nucleotide variantNM_004517.4(ILK):c.918C>T (p.Ala306=)Primary familial hypertrophic cardiomyopathy [RCV001513851]|not provided [RCV004718003]|not specified [RCV000125418]benign1166097856609785Human1name
152053858CV1523784single nucleotide variantNM_004517.4(ILK):c.837T>C (p.Asn279=)Primary familial hypertrophic cardiomyopathy [RCV002127543]|not specified [RCV004927811]likely benign1166096206609620Human1name
152097412CV1597634single nucleotide variantNM_004517.4(ILK):c.588G>A (p.Leu196=)Primary familial hypertrophic cardiomyopathy [RCV002114873]likely benign1166091266609126Human1name
152054215CV1609964single nucleotide variantNM_004517.4(ILK):c.387T>C (p.Cys129=)Primary familial hypertrophic cardiomyopathy [RCV002167234]likely benign1166087296608729Human1name
152048003CV1654105single nucleotide variantNM_004517.4(ILK):c.924A>G (p.Leu308=)Primary familial hypertrophic cardiomyopathy [RCV002088780]likely benign1166097916609791Human1name
155739169CV1794214single nucleotide variantNM_004517.4(ILK):c.432G>A (p.Leu144=)not specified [RCV004050005]likely benign1166087746608774Humanname
155687522CV1803648single nucleotide variantNM_004517.4(ILK):c.591G>A (p.Thr197=)Primary familial hypertrophic cardiomyopathy [RCV003509724]|not specified [RCV004054269]likely benign|uncertain significance1166091296609129Human1name
155689239CV1803962single nucleotide variantNM_004517.4(ILK):c.597C>A (p.Leu199=)not specified [RCV004052512]likely benign1166091356609135Humanname
155710172CV1811601single nucleotide variantNM_004517.4(ILK):c.639G>A (p.Gln213=)not specified [RCV004053934]likely benign1166093196609319Humanname
155689097CV1814415single nucleotide variantNM_004517.4(ILK):c.876C>T (p.Ser292=)Primary familial hypertrophic cardiomyopathy [RCV003103531]|not specified [RCV004056693]likely benign1166097436609743Human1name
155718436CV1819367single nucleotide variantNM_004517.4(ILK):c.738G>T (p.Ser246=)not specified [RCV004055971]likely benign1166095216609521Humanname
155692011CV1821516single nucleotide variantNM_004517.4(ILK):c.94G>A (p.Asp32Asn)Primary familial hypertrophic cardiomyopathy [RCV005097344]|not specified [RCV004056865]uncertain significance1166080506608050Human1name
155712127CV1824229single nucleotide variantNM_004517.4(ILK):c.846T>C (p.His282=)Primary familial hypertrophic cardiomyopathy [RCV003509741]|not specified [RCV004056171]likely benign1166096296609629Human1name
155698664CV1824414single nucleotide variantNM_004517.4(ILK):c.885G>C (p.Val295=)Primary familial hypertrophic cardiomyopathy [RCV005097287]|not specified [RCV004054823]likely benign1166097526609752Human1name
155699783CV1824754single nucleotide variantNM_004517.4(ILK):c.895T>C (p.Leu299=)not specified [RCV004054893]likely benign1166097626609762Humanname
155675376CV1828941single nucleotide variantNM_004517.4(ILK):c.98A>C (p.His33Pro)not specified [RCV004057687]uncertain significance1166080546608054Humanname
156356890CV1877547single nucleotide variantNM_004517.4(ILK):c.354C>T (p.Asp118=)Primary familial hypertrophic cardiomyopathy [RCV003065313]likely benign1166086966608696Human1name
156366307CV1909303single nucleotide variantNM_004517.4(ILK):c.972T>C (p.Ser324=)Primary familial hypertrophic cardiomyopathy [RCV002602848]likely benign1166098396609839Human1name
10055784CV198363single nucleotide variantNM_004517.4(ILK):c.65A>G (p.Asn22Ser)Cardiomyopathy [RCV000852646]|ILK-related disorder [RCV003927713]|Primary familial hypertrophic cardiomyopathy [RCV000227217]|not provided [RCV001529459]|not specified [RCV000183457]likely benign|conflicting interpretations of pathogenicity|uncertain significance1166043366604336Human4name , trait , alternate_id
10401420CV205169deletionNM_004517.4(ILK):c.211del (p.Leu71fs)not specified [RCV000190598]uncertain significance1166081626608162Humanname
155901928CV2083871single nucleotide variantNM_004517.4(ILK):c.777T>C (p.Ser259=)Primary familial hypertrophic cardiomyopathy [RCV002857913]likely benign1166095606609560Human1name
156152642CV2101424single nucleotide variantNM_004517.4(ILK):c.945C>T (p.Ile315=)Primary familial hypertrophic cardiomyopathy [RCV002890705]likely benign1166098126609812Human1name
401777413CV2728881single nucleotide variantNM_004517.4(ILK):c.864C>G (p.Val288=)not specified [RCV004331674]likely benign1166097316609731Humanname
401777416CV2728882single nucleotide variantNM_004517.4(ILK):c.78C>A (p.Asp26Glu)not specified [RCV004331675]uncertain significance1166043496604349Humanname
401745167CV2728884single nucleotide variantNM_004517.4(ILK):c.399A>G (p.Gly133=)not specified [RCV004331677]likely benign1166087416608741Humanname
401889142CV2760485single nucleotide variantNM_004517.4(ILK):c.513G>T (p.Gly171=)not specified [RCV004334235]likely benign1166089486608948Humanname
401892137CV2777263single nucleotide variantNM_004517.4(ILK):c.67A>T (p.Thr23Ser)not specified [RCV004354286]uncertain significance1166043386604338Humanname
402466072CV2989742single nucleotide variantNM_004517.4(ILK):c.83A>G (p.Asn28Ser)Primary familial hypertrophic cardiomyopathy [RCV003622841]uncertain significance1166043546604354Human1name
402469331CV3034228single nucleotide variantNM_004517.4(ILK):c.690G>A (p.Arg230=)Primary familial hypertrophic cardiomyopathy [RCV003623680]likely benign1166093706609370Human1name
405171991CV3073117single nucleotide variantNM_004517.4(ILK):c.819G>C (p.Pro273=)Primary familial hypertrophic cardiomyopathy [RCV003622207]likely benign1166096026609602Human1name
402464133CV3074416single nucleotide variantNM_004517.4(ILK):c.738G>A (p.Ser246=)Primary familial hypertrophic cardiomyopathy [RCV003622312]uncertain significance1166095216609521Human1name
402464246CV3074493single nucleotide variantNM_004517.4(ILK):c.567C>T (p.Asp189=)Primary familial hypertrophic cardiomyopathy [RCV003622349]uncertain significance1166091056609105Human1name
405155679CV3152453single nucleotide variantNM_004517.4(ILK):c.489A>G (p.Pro163=)Primary familial hypertrophic cardiomyopathy [RCV003840380]likely benign1166089246608924Human1name
405283968CV3200410single nucleotide variantNM_004517.4(ILK):c.648C>T (p.Asp216=)ILK-related disorder [RCV003979446]likely benign1166093286609328Humanname , trait , alternate_id
405805157CV3271304single nucleotide variantNM_004517.4(ILK):c.46G>T (p.Val16Phe)not specified [RCV004405365]uncertain significance1166043176604317Humanname
405689379CV3390114single nucleotide variantNM_004517.4(ILK):c.771C>T (p.Cys257=)not specified [RCV004519035]likely benign1166095546609554Humanname
405689387CV3390116single nucleotide variantNM_004517.4(ILK):c.828C>T (p.Ser276=)Primary familial hypertrophic cardiomyopathy [RCV005100486]|not specified [RCV004519037]benign|likely benign1166096116609611Human1name
407479583CV3444677single nucleotide variantNM_004517.4(ILK):c.441T>G (p.Leu147=)Primary familial hypertrophic cardiomyopathy [RCV005059671]|not specified [RCV004628118]likely benign1166087836608783Human1name
597775148CV3686632single nucleotide variantNM_004517.4(ILK):c.879G>A (p.Gln293=)not specified [RCV004929310]likely benign1166097466609746Humanname
597775156CV3686634single nucleotide variantNM_004517.4(ILK):c.852C>G (p.Gly284=)not specified [RCV004929312]likely benign1166096356609635Humanname
597775211CV3686649single nucleotide variantNM_004517.4(ILK):c.786T>A (p.Ala262=)Primary familial hypertrophic cardiomyopathy [RCV005110376]|not specified [RCV004929327]likely benign1166095696609569Human1name
597775215CV3686650single nucleotide variantNM_004517.4(ILK):c.931C>T (p.Leu311=)not specified [RCV004929328]likely benign1166097986609798Humanname
12840753CV374186single nucleotide variantNM_004517.4(ILK):c.600C>T (p.Asn200=)Primary familial hypertrophic cardiomyopathy [RCV002063510]|not specified [RCV000431303]likely benign1166091386609138Human1name
597958524CV3751905single nucleotide variantNM_004517.4(ILK):c.723G>A (p.Arg241=)Primary familial hypertrophic cardiomyopathy [RCV005081035]likely benign1166094036609403Human1name
597939900CV3771997single nucleotide variantNM_004517.4(ILK):c.663G>T (p.Val221=)Primary familial hypertrophic cardiomyopathy [RCV005118252]likely benign1166093436609343Human1name
597971623CV3802630single nucleotide variantNM_004517.4(ILK):c.36C>G (p.Asn12Lys)Primary familial hypertrophic cardiomyopathy [RCV005142228]uncertain significance1166043076604307Human1name
597890462CV3839749single nucleotide variantNM_004517.4(ILK):c.810C>T (p.His270=)Primary familial hypertrophic cardiomyopathy [RCV005179641]|not specified [RCV005338590]likely benign1166095936609593Human1name
597916962CV3851680single nucleotide variantNM_004517.4(ILK):c.645T>C (p.Asn215=)Primary familial hypertrophic cardiomyopathy [RCV005204441]likely benign1166093256609325Human1name
597903815CV3856249single nucleotide variantNM_004517.4(ILK):c.672T>C (p.Val224=)Primary familial hypertrophic cardiomyopathy [RCV005202477]likely benign1166093526609352Human1name
13527730CV503360single nucleotide variantNM_004517.4(ILK):c.864C>T (p.Val288=)ILK-related disorder [RCV003917955]|Primary familial hypertrophic cardiomyopathy [RCV000868778]|not specified [RCV000605278]benign|likely benign1166097316609731Human2name , trait , alternate_id
13606722CV526937single nucleotide variantNM_004517.4(ILK):c.468C>A (p.Gly156=)Primary familial hypertrophic cardiomyopathy [RCV000638617]|not specified [RCV004025519]likely benign1166089036608903Human1name
15148622CV752828single nucleotide variantNM_004517.4(ILK):c.969T>C (p.Arg323=)not provided [RCV000923130]likely benign1166098366609836Humanname
15148311CV768614single nucleotide variantNM_004517.4(ILK):c.501A>G (p.Thr167=)Primary familial hypertrophic cardiomyopathy [RCV001432842]|not specified [RCV004029761]likely benign1166089366608936Human1name
15119035CV768615single nucleotide variantNM_004517.4(ILK):c.708T>C (p.Asn236=)Primary familial hypertrophic cardiomyopathy [RCV001476490]|not specified [RCV004029696]likely benign1166093886609388Human1name
15197100CV768616single nucleotide variantNM_004517.4(ILK):c.714G>A (p.Glu238=)Primary familial hypertrophic cardiomyopathy [RCV000934412]|not specified [RCV004029612]likely benign1166093946609394Human1name
126740317CV1009846single nucleotide variantNM_004517.4(ILK):c.175C>G (p.Arg59Gly)Primary familial hypertrophic cardiomyopathy [RCV001314361]uncertain significance1166081316608131Human1name
127231444CV1078512single nucleotide variantNM_004517.4(ILK):c.1122C>T (p.Asp374=)ILK-related disorder [RCV003938706]|Primary familial hypertrophic cardiomyopathy [RCV001413110]|not specified [RCV004038102]likely benign1166101916610191Human2name , trait , alternate_id
127263870CV1100251single nucleotide variantNM_004517.4(ILK):c.1266T>C (p.Cys422=)Primary familial hypertrophic cardiomyopathy [RCV001428677]|not specified [RCV004927705]likely benign1166105186610518Human1name
127299134CV1121733single nucleotide variantNM_004517.4(ILK):c.1188C>A (p.Ser396=)Primary familial hypertrophic cardiomyopathy [RCV001453524]|not specified [RCV004038522]likely benign1166102576610257Human1name
127296987CV1142581single nucleotide variantNM_004517.4(ILK):c.1227T>C (p.Leu409=)Primary familial hypertrophic cardiomyopathy [RCV001497668]likely benign1166104796610479Human1name
150492087CV1225410single nucleotide variantNM_004517.4(ILK):c.1140G>C (p.Val380=)not provided [RCV001618925]|not specified [RCV004039542]benign|likely benign1166102096610209Humanname
151722136CV1361522single nucleotide variantNM_004517.4(ILK):c.110C>T (p.Pro37Leu)Primary familial hypertrophic cardiomyopathy [RCV001945068]uncertain significance1166080666608066Human1name
151869403CV1379324single nucleotide variantNM_004517.4(ILK):c.128G>A (p.Arg43Gln)Primary familial hypertrophic cardiomyopathy [RCV001906275]uncertain significance1166080846608084Human1name
151881372CV1499865single nucleotide variantNM_004517.4(ILK):c.137G>A (p.Arg46His)Primary familial hypertrophic cardiomyopathy [RCV001886529]uncertain significance1166080936608093Human1name
152171564CV1544251single nucleotide variantNM_004517.4(ILK):c.1338T>C (p.Leu446=)Primary familial hypertrophic cardiomyopathy [RCV002162157]|not specified [RCV004044984]likely benign1166105906610590Human1name
152131078CV1552978single nucleotide variantNM_004517.4(ILK):c.1041T>C (p.Pro347=)Primary familial hypertrophic cardiomyopathy [RCV002199329]|not specified [RCV004045540]likely benign1166099986609998Human1name
152165501CV1611364single nucleotide variantNM_004517.4(ILK):c.1014T>C (p.Ala338=)Primary familial hypertrophic cardiomyopathy [RCV002141729]|not specified [RCV004046328]likely benign1166099716609971Human1name
9832374CV178647single nucleotide variantNM_004517.4(ILK):c.157T>A (p.Leu53Met)Primary familial hypertrophic cardiomyopathy [RCV000157246]|not provided [RCV000757406]benign|conflicting interpretations of pathogenicity|uncertain significance1166081136608113Human1name
155684641CV1827073single nucleotide variantNM_004517.4(ILK):c.149T>C (p.Val50Ala)Primary familial hypertrophic cardiomyopathy [RCV003621648]|not specified [RCV004058538]uncertain significance1166081056608105Human1name
155682136CV1829795single nucleotide variantNM_004517.4(ILK):c.140C>G (p.Ser47Cys)Primary familial hypertrophic cardiomyopathy [RCV003095112]|not specified [RCV004057172]uncertain significance1166080966608096Human1name
155710023CV1832749single nucleotide variantNM_004517.4(ILK):c.1032C>T (p.Phe344=)not specified [RCV004057090]likely benign1166099896609989Humanname
155733583CV1836150single nucleotide variantNM_004517.4(ILK):c.136C>T (p.Arg46Cys)Primary familial hypertrophic cardiomyopathy [RCV003095043]|not specified [RCV004058878]uncertain significance1166080926608092Human1name
155677349CV1839985single nucleotide variantNM_004517.4(ILK):c.205A>T (p.Thr69Ser)not specified [RCV004059672]uncertain significance1166081616608161Humanname
155695457CV1844631single nucleotide variantNM_004517.4(ILK):c.1089G>A (p.Lys363=)not specified [RCV004061941]likely benign1166101586610158Humanname
155726684CV1848667single nucleotide variantNM_004517.4(ILK):c.1104A>C (p.Thr368=)not specified [RCV004062754]likely benign1166101736610173Humanname
155700771CV1851073single nucleotide variantNM_004517.4(ILK):c.230A>G (p.His77Arg)not specified [RCV004062644]uncertain significance1166081866608186Humanname
156283348CV1877227single nucleotide variantNM_004517.4(ILK):c.238C>T (p.Arg80Cys)Primary familial hypertrophic cardiomyopathy [RCV003061146]|not specified [RCV004070448]uncertain significance1166081946608194Human1name
10055785CV198364single nucleotide variantNM_004517.4(ILK):c.175C>T (p.Arg59Trp)Primary familial hypertrophic cardiomyopathy [RCV000706695]|not provided [RCV000183459]uncertain significance1166081316608131Human1name
10055786CV198365single nucleotide variantNM_004517.4(ILK):c.184G>A (p.Val62Ile)Primary familial hypertrophic cardiomyopathy [RCV001305619]|not provided [RCV000183460]|not specified [RCV004020215]uncertain significance1166081406608140Human1name
10055783CV198369single nucleotide variantNM_004517.3(ILK):c.1081C>T (p.Leu361=)Cardiomyopathy [RCV000183456]benign1166101506610150Human1name
156111805CV1998532single nucleotide variantNM_004517.4(ILK):c.1074C>T (p.Pro358=)Primary familial hypertrophic cardiomyopathy [RCV002639969]likely benign1166100316610031Human1name
156116472CV2016989single nucleotide variantNM_004517.4(ILK):c.264G>C (p.Gln88His)Primary familial hypertrophic cardiomyopathy [RCV002740033]uncertain significance1166084026608402Human1name
156111083CV2034978single nucleotide variantNM_004517.4(ILK):c.266A>C (p.Tyr89Ser)Primary familial hypertrophic cardiomyopathy [RCV002761695]uncertain significance1166084046608404Human1name
156017592CV2035392single nucleotide variantNM_004517.4(ILK):c.1263G>A (p.Val421=)Primary familial hypertrophic cardiomyopathy [RCV002780485]likely benign1166105156610515Human1name
156287142CV2067901single nucleotide variantNM_004517.4(ILK):c.274G>A (p.Asp92Asn)Primary familial hypertrophic cardiomyopathy [RCV002856599]uncertain significance1166084126608412Human1name
329379793CV2429942single nucleotide variantNM_004517.4(ILK):c.127C>G (p.Arg43Gly)not specified [RCV004245086]uncertain significance1166080836608083Humanname
401745163CV2728883single nucleotide variantNM_004517.4(ILK):c.1216T>C (p.Leu406=)Primary familial hypertrophic cardiomyopathy [RCV003509800]|not specified [RCV004331676]likely benign1166104686610468Human1name
402525315CV2885366single nucleotide variantNM_004517.4(ILK):c.151G>C (p.Glu51Gln)Primary familial hypertrophic cardiomyopathy [RCV003511170]uncertain significance1166081076608107Human1name
402505119CV2902840single nucleotide variantNM_004517.4(ILK):c.1356G>A (p.Lys452=)Primary familial hypertrophic cardiomyopathy [RCV003509183]likely benign1166106086610608Human1name
402506356CV2907612single nucleotide variantNM_004517.4(ILK):c.1137A>T (p.Ala379=)Primary familial hypertrophic cardiomyopathy [RCV003509316]likely benign1166102066610206Human1name
402516426CV2933530single nucleotide variantNM_004517.4(ILK):c.244A>G (p.Ile82Val)Primary familial hypertrophic cardiomyopathy [RCV003510422]uncertain significance1166082006608200Human1name
402467919CV3010685single nucleotide variantNM_004517.4(ILK):c.1305G>A (p.Lys435=)Primary familial hypertrophic cardiomyopathy [RCV003623303]likely benign1166105576610557Human1name
405689341CV3390106single nucleotide variantNM_004517.4(ILK):c.1068A>T (p.Val356=)not specified [RCV004519027]likely benign1166100256610025Humanname
405689353CV3390109single nucleotide variantNM_004517.4(ILK):c.1245A>G (p.Pro415=)not specified [RCV004519030]likely benign1166104976610497Humanname
405689358CV3390110single nucleotide variantNM_004517.4(ILK):c.173C>T (p.Ala58Val)not specified [RCV004519031]uncertain significance1166081296608129Humanname
405689369CV3390112single nucleotide variantNM_004517.4(ILK):c.199G>A (p.Asp67Asn)not specified [RCV004519033]uncertain significance1166081556608155Humanname
407479568CV3444673single nucleotide variantNM_004517.4(ILK):c.1182C>T (p.Asp394=)not specified [RCV004628114]likely benign1166102516610251Humanname
597775442CV3686630single nucleotide variantNM_004517.4(ILK):c.1344G>A (p.Lys448=)not specified [RCV004929308]likely benign1166105966610596Humanname
597775220CV3686651single nucleotide variantNM_004517.4(ILK):c.154A>G (p.Met52Val)not specified [RCV004929329]uncertain significance1166081106608110Humanname
12846444CV371602single nucleotide variantNM_004517.4(ILK):c.1296C>T (p.Asp432=)Primary familial hypertrophic cardiomyopathy [RCV001451602]|not specified [RCV000441662]likely benign1166105486610548Human1name
12838235CV372521single nucleotide variantNM_004517.4(ILK):c.1197G>A (p.Glu399=)Primary familial hypertrophic cardiomyopathy [RCV002521738]|not specified [RCV000426597]likely benign1166102666610266Human1name
597844096CV3752567single nucleotide variantNM_004517.4(ILK):c.1035A>G (p.Gln345=)Primary familial hypertrophic cardiomyopathy [RCV005086973]likely benign1166099926609992Human1name
597859687CV3769986single nucleotide variantNM_004517.4(ILK):c.1068A>G (p.Val356=)Primary familial hypertrophic cardiomyopathy [RCV005105837]likely benign1166100256610025Human1name
597971395CV3802557single nucleotide variantNM_004517.4(ILK):c.122C>T (p.Ala41Val)Primary familial hypertrophic cardiomyopathy [RCV005142155]uncertain significance1166080786608078Human1name
597948261CV3818270single nucleotide variantNM_004517.4(ILK):c.163A>T (p.Met55Leu)Primary familial hypertrophic cardiomyopathy [RCV005160531]|not specified [RCV005338574]uncertain significance1166081196608119Human1name
597927538CV3836964single nucleotide variantNM_004517.4(ILK):c.194G>T (p.Arg65Leu)Primary familial hypertrophic cardiomyopathy [RCV005185315]uncertain significance1166081506608150Human1name
597885718CV3854833single nucleotide variantNM_004517.4(ILK):c.247G>T (p.Val83Leu)Primary familial hypertrophic cardiomyopathy [RCV005199678]uncertain significance1166082036608203Human1name
598180619CV3972385single nucleotide variantNM_004517.4(ILK):c.193C>A (p.Arg65Ser)not specified [RCV005352365]uncertain significance1166081496608149Humanname
598180648CV3972389single nucleotide variantNM_004517.4(ILK):c.1230G>A (p.Arg410=)not specified [RCV005352369]likely benign1166104826610482Humanname
12900687CV408424single nucleotide variantNM_004517.4(ILK):c.277A>G (p.Ile93Val)Primary familial hypertrophic cardiomyopathy [RCV002526513]|not provided [RCV000482953]|not specified [RCV004023107]uncertain significance1166084156608415Human1name
13211574CV425939single nucleotide variantNM_004517.4(ILK):c.130G>C (p.Glu44Gln)ILK-related disorder [RCV003403155]|Primary familial hypertrophic cardiomyopathy [RCV000555076]|not provided [RCV000497634]likely pathogenic|uncertain significance1166080866608086Human2name , trait , alternate_id
13212223CV425940single nucleotide variantNM_004517.4(ILK):c.146T>C (p.Val49Ala)Primary familial hypertrophic cardiomyopathy [RCV003621543]|not provided [RCV000498513]uncertain significance1166081026608102Human1name
13482096CV461366single nucleotide variantNM_004517.4(ILK):c.206C>T (p.Thr69Ile)Primary familial hypertrophic cardiomyopathy [RCV000529247]uncertain significance1166081626608162Human1name
13813963CV567459single nucleotide variantNM_004517.4(ILK):c.223G>C (p.Ala75Pro)Primary familial hypertrophic cardiomyopathy [RCV000690520]uncertain significance1166081796608179Human1name
14719753CV640337single nucleotide variantNM_004517.4(ILK):c.236A>T (p.His79Leu)Primary familial hypertrophic cardiomyopathy [RCV000812749]uncertain significance1166081926608192Human1name
15099797CV687813single nucleotide variantNM_004517.4(ILK):c.1263G>T (p.Val421=)Primary familial hypertrophic cardiomyopathy [RCV000869957]|not specified [RCV004027766]likely benign1166105156610515Human1name
26885466CV838777single nucleotide variantNM_004517.4(ILK):c.163A>G (p.Met55Val)Primary familial hypertrophic cardiomyopathy [RCV001053599]uncertain significance1166081196608119Human1name
26902592CV838778single nucleotide variantNM_004517.4(ILK):c.169G>A (p.Gly57Arg)Primary familial hypertrophic cardiomyopathy [RCV001069447]uncertain significance1166081256608125Human1name
26919382CV838779single nucleotide variantNM_004517.4(ILK):c.193C>T (p.Arg65Cys)Primary familial hypertrophic cardiomyopathy [RCV001045425]uncertain significance1166081496608149Human1name
38462139CV935693single nucleotide variantNM_004517.4(ILK):c.296A>C (p.His99Pro)Primary familial hypertrophic cardiomyopathy [RCV001212152]uncertain significance1166084346608434Human1name
8689315CV97402single nucleotide variantNM_004517.4(ILK):c.1020C>T (p.Val340=)not provided [RCV000122481]uncertain significance1166099776609977Humanname
126771335CV1009847single nucleotide variantNM_004517.4(ILK):c.586C>G (p.Leu196Val)Primary familial hypertrophic cardiomyopathy [RCV001323102]uncertain significance1166091246609124Human1name
126769259CV1009848single nucleotide variantNM_004517.4(ILK):c.673C>T (p.Arg225Ter)Primary familial hypertrophic cardiomyopathy [RCV001321849]uncertain significance1166093536609353Human1name
126740684CV1009849single nucleotide variantNM_004517.4(ILK):c.958C>G (p.Leu320Val)ILK-related disorder [RCV003416192]|Primary familial hypertrophic cardiomyopathy [RCV001314416]uncertain significance1166098256609825Human2name , trait , alternate_id
126757115CV1030406single nucleotide variantNM_004517.4(ILK):c.636G>T (p.Trp212Cys)Primary familial hypertrophic cardiomyopathy [RCV001339475]|not specified [RCV004927694]uncertain significance1166093166609316Human1name
126746422CV1030407single nucleotide variantNM_004517.4(ILK):c.766G>A (p.Ala256Thr)Primary familial hypertrophic cardiomyopathy [RCV001337324]uncertain significance1166095496609549Human1name
126772824CV1030408single nucleotide variantNM_004517.4(ILK):c.968G>A (p.Arg323His)Primary familial hypertrophic cardiomyopathy [RCV001345837]|not specified [RCV004036467]uncertain significance1166098356609835Human1name
126924358CV1047391single nucleotide variantNM_004517.4(ILK):c.674G>A (p.Arg225Gln)Primary familial hypertrophic cardiomyopathy [RCV001366941]uncertain significance1166093546609354Human1name
126922800CV1047392single nucleotide variantNM_004517.4(ILK):c.958C>A (p.Leu320Ile)Primary familial hypertrophic cardiomyopathy [RCV001365097]|not specified [RCV004036933]uncertain significance1166098256609825Human1name
127233405CV1078511single nucleotide variantNM_004517.4(ILK):c.818C>G (p.Pro273Arg)Primary familial hypertrophic cardiomyopathy [RCV001413866]likely benign1166096016609601Human1name
150332963CV1164400single nucleotide variantNM_004517.4(ILK):c.551A>C (p.Lys184Thr)Primary familial hypertrophic cardiomyopathy [RCV005094723]|not provided [RCV001528579]|not specified [RCV004039194]uncertain significance1166090896609089Human1name
150334493CV1164401single nucleotide variantNM_004517.4(ILK):c.721C>T (p.Arg241Trp)Primary familial hypertrophic cardiomyopathy [RCV001873743]|not provided [RCV001529662]uncertain significance1166094016609401Human1name
150520792CV1289908single nucleotide variantNM_004517.4(ILK):c.647A>G (p.Asp216Gly)Primary familial hypertrophic cardiomyopathy [RCV003509681]|not provided [RCV001730284]uncertain significance1166093276609327Human1name
151781116CV1363947single nucleotide variantNM_004517.4(ILK):c.836A>G (p.Asn279Ser)Primary familial hypertrophic cardiomyopathy [RCV001864971]uncertain significance1166096196609619Human1name
151837378CV1383252single nucleotide variantNM_004517.4(ILK):c.352G>A (p.Asp118Asn)Primary familial hypertrophic cardiomyopathy [RCV001935701]uncertain significance1166086946608694Human1name
151851426CV1386154single nucleotide variantNM_004517.4(ILK):c.370G>T (p.Ala124Ser)Primary familial hypertrophic cardiomyopathy [RCV001937404]uncertain significance1166087126608712Human1name
151825622CV1392117single nucleotide variantNM_004517.4(ILK):c.656T>A (p.Val219Glu)Primary familial hypertrophic cardiomyopathy [RCV001879628]uncertain significance1166093366609336Human1name
151790714CV1397300single nucleotide variantNM_004517.4(ILK):c.862G>A (p.Val288Ile)Primary familial hypertrophic cardiomyopathy [RCV001952021]|not specified [RCV004043613]uncertain significance1166097296609729Human1name
151740194CV1412880single nucleotide variantNM_004517.4(ILK):c.436G>C (p.Glu146Gln)Primary familial hypertrophic cardiomyopathy [RCV001926392]uncertain significance1166087786608778Human1name
151777351CV1454121single nucleotide variantNM_004517.4(ILK):c.481C>T (p.Arg161Cys)Primary familial hypertrophic cardiomyopathy [RCV001896916]|not specified [RCV004042537]uncertain significance1166089166608916Human1name
151731318CV1457983single nucleotide variantNM_004517.4(ILK):c.613G>A (p.Gly205Arg)Primary familial hypertrophic cardiomyopathy [RCV001967139]|not specified [RCV004041882]uncertain significance1166091516609151Human1name
151866812CV1468798single nucleotide variantNM_004517.4(ILK):c.395A>G (p.Tyr132Cys)Primary familial hypertrophic cardiomyopathy [RCV002018447]uncertain significance1166087376608737Human1name
151780126CV1473992single nucleotide variantNM_004517.4(ILK):c.695G>A (p.Ser232Asn)Primary familial hypertrophic cardiomyopathy [RCV001864884]uncertain significance1166093756609375Human1name
151870900CV1488644single nucleotide variantNM_004517.4(ILK):c.373C>G (p.Leu125Val)Primary familial hypertrophic cardiomyopathy [RCV002035652]|not specified [RCV004045942]uncertain significance1166087156608715Human1name
151738236CV1500673single nucleotide variantNM_004517.4(ILK):c.590C>T (p.Thr197Met)ILK-related cardiomyopathy [RCV003448436]|Primary familial hypertrophic cardiomyopathy [RCV001984975]uncertain significance1166091286609128Human2name , trait
151849213CV1510800single nucleotide variantNM_004517.4(ILK):c.422A>G (p.Lys141Arg)Primary familial hypertrophic cardiomyopathy [RCV001957747]|not specified [RCV004043019]uncertain significance1166087646608764Human1name
9586843CV165551single nucleotide variantNM_004517.4(ILK):c.631C>T (p.Arg211Cys)ILK-related disorder [RCV003905245]|Primary familial hypertrophic cardiomyopathy [RCV000143901]|not provided [RCV001529362]|not specified [RCV000183461]likely benign|conflicting interpretations of pathogenicity|uncertain significance1166093116609311Human2name , trait , alternate_id
152033800CV1669044single nucleotide variantNM_004517.4(ILK):c.764G>T (p.Gly255Val)not provided [RCV002223388]uncertain significance1166095476609547Humanname
155641369CV1709731single nucleotide variantNM_004517.4(ILK):c.887A>C (p.Lys296Thr)not provided [RCV002292831]uncertain significance1166097546609754Humanname
9832375CV178648single nucleotide variantNM_004517.4(ILK):c.962A>G (p.Asn321Ser)Primary familial hypertrophic cardiomyopathy [RCV000157247]|not specified [RCV004019896]uncertain significance1166098296609829Human1name
155744575CV1793204single nucleotide variantNM_004517.4(ILK):c.364A>T (p.Asn122Tyr)Primary familial hypertrophic cardiomyopathy [RCV003102416]|not specified [RCV004049569]uncertain significance1166087066608706Human1name
155695960CV1796967single nucleotide variantNM_004517.4(ILK):c.394T>G (p.Tyr132Asp)Primary familial hypertrophic cardiomyopathy [RCV003621627]|not specified [RCV004050464]uncertain significance1166087366608736Human1name
155734614CV1797692single nucleotide variantNM_004517.4(ILK):c.427C>A (p.Pro143Thr)Primary familial hypertrophic cardiomyopathy [RCV003094620]|not specified [RCV004049898]uncertain significance1166087696608769Human1name
155739704CV1799145single nucleotide variantNM_004517.4(ILK):c.493A>G (p.Lys165Glu)not specified [RCV004050259]uncertain significance1166089286608928Humanname
155723430CV1799308single nucleotide variantNM_004517.4(ILK):c.515C>A (p.Thr172Asn)not specified [RCV004051103]uncertain significance1166089506608950Humanname
155724910CV1804747single nucleotide variantNM_004517.4(ILK):c.655G>A (p.Val219Met)Primary familial hypertrophic cardiomyopathy [RCV003098289]|not specified [RCV004054401]uncertain significance1166093356609335Human1name
155721510CV1805561single nucleotide variantNM_004517.4(ILK):c.482G>A (p.Arg161His)Primary familial hypertrophic cardiomyopathy [RCV003775973]|not specified [RCV004052203]uncertain significance1166089176608917Human1name
155736692CV1808963single nucleotide variantNM_004517.4(ILK):c.475C>G (p.Leu159Val)Primary familial hypertrophic cardiomyopathy [RCV003621632]|not specified [RCV004052078]uncertain significance1166089106608910Human1name
155719519CV1809164single nucleotide variantNM_004517.4(ILK):c.478A>G (p.Asn160Asp)not specified [RCV004052135]uncertain significance1166089136608913Humanname
155747231CV1816786single nucleotide variantNM_004517.4(ILK):c.790C>T (p.His264Tyr)Primary familial hypertrophic cardiomyopathy [RCV003099782]|not specified [RCV004054776]uncertain significance1166095736609573Human1name
155677028CV1818787single nucleotide variantNM_004517.4(ILK):c.679T>A (p.Trp227Arg)Primary familial hypertrophic cardiomyopathy [RCV003509728]|not specified [RCV004052819]uncertain significance1166093596609359Human1name
155674129CV1820361single nucleotide variantNM_004517.4(ILK):c.815T>G (p.Met272Arg)Primary familial hypertrophic cardiomyopathy [RCV003099851]|not specified [RCV004055505]uncertain significance1166095986609598Human1name
155674461CV1820408single nucleotide variantNM_004517.4(ILK):c.816G>A (p.Met272Ile)not specified [RCV004055516]uncertain significance1166095996609599Humanname
155697558CV1820477single nucleotide variantNM_004517.4(ILK):c.818C>A (p.Pro273Gln)Primary familial hypertrophic cardiomyopathy [RCV005097201]|not specified [RCV004055526]uncertain significance1166096016609601Human1name
155700731CV1821132single nucleotide variantNM_004517.4(ILK):c.901A>T (p.Met301Leu)not specified [RCV004054933]uncertain significance1166097686609768Humanname
156015594CV1885174single nucleotide variantNM_004517.4(ILK):c.865G>A (p.Val289Met)Primary familial hypertrophic cardiomyopathy [RCV003077342]uncertain significance1166097326609732Human1name
156133420CV1885691single nucleotide variantNM_004517.4(ILK):c.518C>T (p.Thr173Ile)Primary familial hypertrophic cardiomyopathy [RCV003081927]|not specified [RCV004927876]uncertain significance1166089536608953Human1name
156406804CV1891357single nucleotide variantNM_004517.4(ILK):c.649A>T (p.Ile217Phe)Primary familial hypertrophic cardiomyopathy [RCV003070503]uncertain significance1166093296609329Human1name
156386603CV1891899single nucleotide variantNM_004517.4(ILK):c.794C>T (p.Pro265Leu)Primary familial hypertrophic cardiomyopathy [RCV003067610]uncertain significance1166095776609577Human1name
156387056CV1891970single nucleotide variantNM_004517.4(ILK):c.377T>C (p.Val126Ala)Primary familial hypertrophic cardiomyopathy [RCV003067648]uncertain significance1166087196608719Human1name
156408321CV1911561single nucleotide variantNM_004517.4(ILK):c.961A>G (p.Asn321Asp)Primary familial hypertrophic cardiomyopathy [RCV002607192]uncertain significance1166098286609828Human1name
156446210CV1951244single nucleotide variantNM_004517.4(ILK):c.410T>C (p.Val137Ala)Primary familial hypertrophic cardiomyopathy [RCV003117177]|not specified [RCV004245958]uncertain significance1166087526608752Human1name
10055781CV198366single nucleotide variantNM_004517.4(ILK):c.435A>C (p.Arg145Ser)ILK-related disorder [RCV003907639]|Primary familial hypertrophic cardiomyopathy [RCV000472252]|not specified [RCV000183454]benign|likely benign1166087776608777Human2name , trait , alternate_id
10055787CV198368single nucleotide variantNM_004517.4(ILK):c.669G>T (p.Lys223Asn)Primary familial hypertrophic cardiomyopathy [RCV001088134]|not provided [RCV000183462]likely benign|conflicting interpretations of pathogenicity|uncertain significance1166093496609349Human1name
156241284CV1996374single nucleotide variantNM_004517.4(ILK):c.520C>T (p.Arg174Cys)Primary familial hypertrophic cardiomyopathy [RCV002667935]|not provided [RCV003491138]uncertain significance1166089556608955Human1name
156061296CV2008275single nucleotide variantNM_004517.4(ILK):c.707A>T (p.Asn236Ile)Primary familial hypertrophic cardiomyopathy [RCV002705395]uncertain significance1166093876609387Human1name
156351021CV2018878single nucleotide variantNM_004517.4(ILK):c.532C>T (p.Arg178Ter)Primary familial hypertrophic cardiomyopathy [RCV002720181]uncertain significance1166089676608967Human1name
155996563CV2109455single nucleotide variantNM_004517.4(ILK):c.641G>A (p.Gly214Asp)Primary familial hypertrophic cardiomyopathy [RCV002947587]uncertain significance1166093216609321Human1name
156327045CV2170449single nucleotide variantNM_004517.4(ILK):c.619C>G (p.Leu207Val)Primary familial hypertrophic cardiomyopathy [RCV003029550]uncertain significance1166092996609299Human1name
156170048CV2184963single nucleotide variantNM_004517.4(ILK):c.700G>A (p.Asp234Asn)Primary familial hypertrophic cardiomyopathy [RCV003057192]uncertain significance1166093806609380Human1name
156278637CV2188529single nucleotide variantNM_004517.4(ILK):c.581A>C (p.Asn194Thr)Primary familial hypertrophic cardiomyopathy [RCV003044704]uncertain significance1166091196609119Human1name
155981789CV2233116single nucleotide variantNM_004517.4(ILK):c.556T>C (p.Ser186Pro)not specified [RCV004103732]uncertain significance1166090946609094Humanname
11040131CV224434single nucleotide variantNM_004517.4(ILK):c.446G>A (p.Arg149Gln)Long QT syndrome [RCV000208422]|Primary familial hypertrophic cardiomyopathy [RCV001211006]|not provided [RCV000520010]|not specified [RCV004020557]uncertain significance1166087886608788Human3name
11040279CV224435single nucleotide variantNM_004517.4(ILK):c.734T>A (p.Phe245Tyr)Primary dilated cardiomyopathy [RCV000208000]|Primary familial hypertrophic cardiomyopathy [RCV005055735]uncertain significance1166095176609517Human2name
11089025CV230225single nucleotide variantNM_004517.4(ILK):c.778C>T (p.Pro260Ser)Primary familial hypertrophic cardiomyopathy [RCV000692720]|not specified [RCV000214294]uncertain significance1166095616609561Human1name
156070041CV2325040single nucleotide variantNM_004517.4(ILK):c.792T>A (p.His264Gln)not specified [RCV004175585]uncertain significance1166095756609575Humanname
329383258CV2422145single nucleotide variantNM_004517.4(ILK):c.644A>G (p.Asn215Ser)not specified [RCV004246236]uncertain significance1166093246609324Humanname
329379784CV2429939single nucleotide variantNM_004517.4(ILK):c.713A>T (p.Glu238Val)not specified [RCV004245083]uncertain significance1166093936609393Humanname
329379787CV2429940single nucleotide variantNM_004517.4(ILK):c.758T>C (p.Val253Ala)Primary familial hypertrophic cardiomyopathy [RCV003621686]|not specified [RCV004245084]uncertain significance1166095416609541Human1name
329401119CV2446151single nucleotide variantNM_004517.4(ILK):c.440T>C (p.Leu147Pro)not specified [RCV004264563]uncertain significance1166087826608782Humanname
401745159CV2728880single nucleotide variantNM_004517.4(ILK):c.610T>G (p.Ser204Ala)Primary familial hypertrophic cardiomyopathy [RCV003621695]|not specified [RCV004331673]uncertain significance1166091486609148Human1name
401865422CV2778746single nucleotide variantNM_004517.4(ILK):c.560G>T (p.Gly187Val)not specified [RCV004346655]uncertain significance1166090986609098Humanname
401886043CV2790247single nucleotide variantNM_004517.4(ILK):c.686C>T (p.Thr229Ile)not specified [RCV004364354]uncertain significance1166093666609366Humanname
402524707CV2885101single nucleotide variantNM_004517.4(ILK):c.527G>A (p.Arg176Gln)Primary familial hypertrophic cardiomyopathy [RCV003511123]uncertain significance1166089626608962Human1name
402525110CV2888462single nucleotide variantNM_004517.4(ILK):c.542C>T (p.Thr181Ile)Primary familial hypertrophic cardiomyopathy [RCV003511154]uncertain significance1166090806609080Human1name
402506193CV2901185single nucleotide variantNM_004517.4(ILK):c.529C>T (p.Pro177Ser)Primary familial hypertrophic cardiomyopathy [RCV003509297]uncertain significance1166089646608964Human1name
402464857CV2971515single nucleotide variantNM_004517.4(ILK):c.958C>T (p.Leu320Phe)Primary familial hypertrophic cardiomyopathy [RCV003622537]uncertain significance1166098256609825Human1name
402466606CV2995326single nucleotide variantNM_004517.4(ILK):c.944T>C (p.Ile315Thr)Primary familial hypertrophic cardiomyopathy [RCV003622958]uncertain significance1166098116609811Human1name
402469131CV3041626single nucleotide variantNM_004517.4(ILK):c.995C>T (p.Thr332Ile)Primary familial hypertrophic cardiomyopathy [RCV003623625]|not specified [RCV004927935]uncertain significance1166099526609952Human1name
402475200CV3172713single nucleotide variantNM_004517.4(ILK):c.838G>A (p.Val280Ile)Primary familial hypertrophic cardiomyopathy [RCV003875131]uncertain significance1166096216609621Human1name
405805344CV3271305single nucleotide variantNM_004517.4(ILK):c.650T>C (p.Ile217Thr)Primary familial hypertrophic cardiomyopathy [RCV005104478]|not specified [RCV004405366]uncertain significance1166093306609330Human1name
405689374CV3390113single nucleotide variantNM_004517.4(ILK):c.472A>T (p.Asn158Tyr)not specified [RCV004519034]uncertain significance1166089076608907Humanname
405689383CV3390115single nucleotide variantNM_004517.4(ILK):c.818C>T (p.Pro273Leu)not specified [RCV004519036]uncertain significance1166096016609601Humanname
405689393CV3390117single nucleotide variantNM_004517.4(ILK):c.953A>T (p.His318Leu)not specified [RCV004519038]uncertain significance1166098206609820Humanname
407479563CV3444672single nucleotide variantNM_004517.4(ILK):c.943A>G (p.Ile315Val)not specified [RCV004628113]uncertain significance1166098106609810Humanname
407479572CV3444674single nucleotide variantNM_004517.4(ILK):c.869A>C (p.Asp290Ala)not specified [RCV004628115]uncertain significance1166097366609736Humanname
407479577CV3444675single nucleotide variantNM_004517.4(ILK):c.439C>T (p.Leu147Phe)not specified [RCV004628116]uncertain significance1166087816608781Humanname
12741323CV359902single nucleotide variantNM_004517.4(ILK):c.601G>A (p.Glu201Lys)Primary familial hypertrophic cardiomyopathy [RCV000811938]|not specified [RCV000414750]uncertain significance1166091396609139Human1name
597775135CV3686629single nucleotide variantNM_004517.4(ILK):c.515C>T (p.Thr172Ile)Primary familial hypertrophic cardiomyopathy [RCV005110375]|not specified [RCV004929307]uncertain significance1166089506608950Human1name
597775160CV3686635single nucleotide variantNM_004517.4(ILK):c.781C>T (p.Pro261Ser)not specified [RCV004929313]uncertain significance1166095646609564Humanname
597775201CV3686646single nucleotide variantNM_004517.4(ILK):c.595C>T (p.Leu199Phe)not specified [RCV004929324]uncertain significance1166091336609133Humanname
597963346CV3753919single nucleotide variantNM_004517.4(ILK):c.628G>A (p.Gly210Ser)Primary familial hypertrophic cardiomyopathy [RCV005082223]uncertain significance1166093086609308Human1name
597930651CV3789363single nucleotide variantNM_004517.4(ILK):c.880G>A (p.Ala294Thr)Primary familial hypertrophic cardiomyopathy [RCV005131644]uncertain significance1166097476609747Human1name
597971072CV3802429single nucleotide variantNM_004517.4(ILK):c.638A>G (p.Gln213Arg)Primary familial hypertrophic cardiomyopathy [RCV005142027]uncertain significance1166093186609318Human1name
597965544CV3823539single nucleotide variantNM_004517.4(ILK):c.952C>T (p.His318Tyr)Primary familial hypertrophic cardiomyopathy [RCV005164959]uncertain significance1166098196609819Human1name
597850690CV3824610single nucleotide variantNM_004517.4(ILK):c.688A>G (p.Arg230Gly)Primary familial hypertrophic cardiomyopathy [RCV005173649]uncertain significance1166093686609368Human1name
597930545CV3826981duplicationNM_004517.4(ILK):c.1225dup (p.Leu409fs)Primary familial hypertrophic cardiomyopathy [RCV005156994]uncertain significance1166104756610476Human1name
597939305CV3836410single nucleotide variantNM_004517.4(ILK):c.679T>C (p.Trp227Arg)Primary familial hypertrophic cardiomyopathy [RCV005187431]uncertain significance1166093596609359Human1name
597906353CV3853439single nucleotide variantNM_004517.4(ILK):c.562A>G (p.Ile188Val)Primary familial hypertrophic cardiomyopathy [RCV005202917]uncertain significance1166091006609100Human1name
598180612CV3972384single nucleotide variantNM_004517.4(ILK):c.714G>C (p.Glu238Asp)not specified [RCV005352364]uncertain significance1166093946609394Humanname
598207804CV3972391single nucleotide variantNM_004517.4(ILK):c.382A>T (p.Ile128Phe)not specified [RCV005338030]uncertain significance1166087246608724Humanname
598207810CV3972392single nucleotide variantNM_004517.4(ILK):c.600C>G (p.Asn200Lys)not specified [RCV005338031]uncertain significance1166091386609138Humanname
13485056CV444861single nucleotide variantNM_004517.4(ILK):c.458A>G (p.Glu153Gly)Primary familial hypertrophic cardiomyopathy [RCV005091209]|not provided [RCV001574022]likely benign|uncertain significance1166088936608893Human1name
13479220CV444862single nucleotide variantNM_004517.4(ILK):c.707A>G (p.Asn236Ser)Primary familial hypertrophic cardiomyopathy [RCV001084716]|not provided [RCV000757407]likely benign|conflicting interpretations of pathogenicity|uncertain significance1166093876609387Human1name
13470790CV461893single nucleotide variantNM_004517.4(ILK):c.337G>T (p.Asp113Tyr)Primary familial hypertrophic cardiomyopathy [RCV000546414]uncertain significance1166084756608475Human1name
13536517CV497395single nucleotide variantNM_004517.4(ILK):c.632G>A (p.Arg211His)Primary familial hypertrophic cardiomyopathy [RCV001236813]|not specified [RCV000609112]likely benign|conflicting interpretations of pathogenicity|uncertain significance1166093126609312Human1name
13535108CV510336single nucleotide variantNM_004517.4(ILK):c.503T>G (p.Phe168Cys)Cardiovascular phenotype [RCV000619469]|Primary familial hypertrophic cardiomyopathy [RCV001506166]likely benign|uncertain significance1166089386608938Human2name
13529477CV510337single nucleotide variantNM_004517.4(ILK):c.521G>A (p.Arg174His)Cardiovascular phenotype [RCV000621572]|Primary familial hypertrophic cardiomyopathy [RCV001351095]uncertain significance1166089566608956Human2name
13606721CV526700single nucleotide variantNM_004517.4(ILK):c.504C>G (p.Phe168Leu)Primary familial hypertrophic cardiomyopathy [RCV000638616]uncertain significance1166089396608939Human1name
13606719CV526945single nucleotide variantNM_004517.4(ILK):c.580A>G (p.Asn194Asp)Primary familial hypertrophic cardiomyopathy [RCV000638614]|not specified [RCV004025518]uncertain significance1166091186609118Human1name
8572427CV59494single nucleotide variantNM_004517.4(ILK):c.785C>T (p.Ala262Val)Variant of unknown significance [RCV000043520]uncertain significance1166095686609568Humanname
14696461CV623069single nucleotide variantNM_004517.4(ILK):c.386G>C (p.Cys129Ser)not provided [RCV000786321]uncertain significance1166087286608728Humanname
14745084CV640338single nucleotide variantNM_004517.4(ILK):c.466G>A (p.Gly156Ser)Primary familial hypertrophic cardiomyopathy [RCV000824494]|not provided [RCV001528263]|not specified [RCV004029180]likely benign|uncertain significance1166089016608901Human1name
26898027CV838780single nucleotide variantNM_004517.4(ILK):c.428C>T (p.Pro143Leu)Primary familial hypertrophic cardiomyopathy [RCV001066281]uncertain significance1166087706608770Human1name
26886197CV838781single nucleotide variantNM_004517.4(ILK):c.452G>A (p.Arg151Gln)Primary familial hypertrophic cardiomyopathy [RCV001054638]uncertain significance1166088876608887Human1name
26904869CV838782single nucleotide variantNM_004517.4(ILK):c.614G>A (p.Gly205Glu)Primary familial hypertrophic cardiomyopathy [RCV001071240]|not specified [RCV004629445]likely benign|uncertain significance1166091526609152Human1name
38462882CV919383single nucleotide variantNM_004517.4(ILK):c.879G>C (p.Gln293His)See cases [RCV001198754]uncertain significance1166097466609746Humanname
38482083CV935694single nucleotide variantNM_004517.4(ILK):c.799C>G (p.Leu267Val)Primary familial hypertrophic cardiomyopathy [RCV001207142]uncertain significance1166095826609582Human1name
38498049CV947585single nucleotide variantNM_004517.4(ILK):c.757G>C (p.Val253Leu)Primary familial hypertrophic cardiomyopathy [RCV001227385]uncertain significance1166095406609540Human1name
38494494CV956589single nucleotide variantNM_004517.4(ILK):c.451C>T (p.Arg151Trp)Primary familial hypertrophic cardiomyopathy [RCV001241344]|not specified [RCV004927680]uncertain significance1166088866608886Human1name
126769865CV1009850single nucleotide variantNM_004517.4(ILK):c.1307G>A (p.Arg436Gln)Primary familial hypertrophic cardiomyopathy [RCV001322222]uncertain significance1166105596610559Human1name
126772463CV1030409single nucleotide variantNM_004517.4(ILK):c.1331C>A (p.Pro444His)Primary familial hypertrophic cardiomyopathy [RCV001345628]|not specified [RCV005348456]uncertain significance1166105836610583Human1name
126918904CV1047393single nucleotide variantNM_004517.4(ILK):c.1301C>A (p.Ala434Glu)Primary familial hypertrophic cardiomyopathy [RCV001372928]uncertain significance1166105536610553Human1name
126923681CV1047394single nucleotide variantNM_004517.4(ILK):c.1322T>G (p.Met441Arg)Primary familial hypertrophic cardiomyopathy [RCV001366129]uncertain significance1166105746610574Human1name
150553893CV1309024single nucleotide variantNM_004517.4(ILK):c.1066G>A (p.Val356Ile)Primary familial hypertrophic cardiomyopathy [RCV002074033]|not provided [RCV001769937]|not specified [RCV004631742]likely benign1166100236610023Human1name
151892258CV1337579single nucleotide variantNM_004517.4(ILK):c.1111C>T (p.Arg371Cys)Primary familial hypertrophic cardiomyopathy [RCV001943925]|not specified [RCV004044141]uncertain significance1166101806610180Human1name
151738949CV1379280single nucleotide variantNM_004517.4(ILK):c.1086G>C (p.Gln362His)Primary familial hypertrophic cardiomyopathy [RCV001911736]|not provided [RCV002224110]uncertain significance1166101556610155Human1name
151732258CV1390135single nucleotide variantNM_004517.4(ILK):c.1270C>G (p.Leu424Val)Primary familial hypertrophic cardiomyopathy [RCV001911001]uncertain significance1166105226610522Human1name
151745147CV1400990single nucleotide variantNM_004517.4(ILK):c.1214C>T (p.Ala405Val)Primary familial hypertrophic cardiomyopathy [RCV002022732]uncertain significance1166104666610466Human1name
151856225CV1449024single nucleotide variantNM_004517.4(ILK):c.1347G>A (p.Met449Ile)Primary familial hypertrophic cardiomyopathy [RCV001979554]uncertain significance1166105996610599Human1name
151752921CV1457501single nucleotide variantNM_004517.4(ILK):c.1046G>T (p.Arg349Leu)Primary familial hypertrophic cardiomyopathy [RCV001913168]uncertain significance1166100036610003Human1name
151791687CV1486256single nucleotide variantNM_004517.4(ILK):c.1022A>G (p.Lys341Arg)Primary familial hypertrophic cardiomyopathy [RCV002047169]uncertain significance1166099796609979Human1name
151728239CV1505216single nucleotide variantNM_004517.4(ILK):c.1052A>G (p.Tyr351Cys)Primary familial hypertrophic cardiomyopathy [RCV002021027]uncertain significance1166100096610009Human1name
151756612CV1517148single nucleotide variantNM_004517.4(ILK):c.1018G>A (p.Val340Ile)Primary familial hypertrophic cardiomyopathy [RCV002043806]uncertain significance1166099756609975Human1name
9832376CV178649single nucleotide variantNM_004517.4(ILK):c.1180G>A (p.Asp394Asn)Primary familial hypertrophic cardiomyopathy [RCV000157248]uncertain significance1166102496610249Human1name
155703125CV1787425single nucleotide variantNM_004517.4(ILK):c.1163G>A (p.Arg388Gln)not specified [RCV004051262]uncertain significance1166102326610232Humanname
155669703CV1832201single nucleotide variantNM_004517.4(ILK):c.1313A>C (p.Lys438Thr)not specified [RCV004058325]uncertain significance1166105656610565Humanname
155721364CV1835920single nucleotide variantNM_004517.4(ILK):c.1001G>A (p.Arg334Gln)Primary familial hypertrophic cardiomyopathy [RCV003621644]|not specified [RCV004058269]uncertain significance1166099586609958Human1name
155695542CV1844653single nucleotide variantNM_004517.4(ILK):c.1089G>T (p.Lys363Asn)not specified [RCV004061946]uncertain significance1166101586610158Humanname
156418869CV1918877single nucleotide variantNM_004517.4(ILK):c.1229G>A (p.Arg410Gln)Primary familial hypertrophic cardiomyopathy [RCV002612079]uncertain significance1166104816610481Human1name
156095419CV2004553single nucleotide variantNM_004517.4(ILK):c.1075G>A (p.Glu359Lys)Primary familial hypertrophic cardiomyopathy [RCV002639377]uncertain significance1166100326610032Human1name
156032825CV2097557single nucleotide variantNM_004517.4(ILK):c.1355A>C (p.Lys452Thr)Primary familial hypertrophic cardiomyopathy [RCV002885475]uncertain significance1166106076610607Human1name
156193742CV2099107single nucleotide variantNM_004517.4(ILK):c.1275G>A (p.Met425Ile)Primary familial hypertrophic cardiomyopathy [RCV002917537]uncertain significance1166105276610527Human1name
329379781CV2429938single nucleotide variantNM_004517.4(ILK):c.1093C>G (p.Pro365Ala)not specified [RCV004245082]uncertain significance1166101626610162Humanname
401777410CV2728879single nucleotide variantNM_004517.4(ILK):c.1090A>C (p.Lys364Gln)not specified [RCV004331672]uncertain significance1166101596610159Humanname
402466593CV2998763single nucleotide variantNM_004517.4(ILK):c.1031T>A (p.Phe344Tyr)Primary familial hypertrophic cardiomyopathy [RCV003622955]uncertain significance1166099886609988Human1name
402464244CV3074486single nucleotide variantNM_004517.4(ILK):c.1228C>T (p.Arg410Trp)Primary familial hypertrophic cardiomyopathy [RCV003622348]uncertain significance1166104806610480Human1name
402464353CV3075126single nucleotide variantNM_004517.4(ILK):c.1136C>T (p.Ala379Val)Primary familial hypertrophic cardiomyopathy [RCV003622385]uncertain significance1166102056610205Human1name
405117756CV3116008single nucleotide variantNM_004517.4(ILK):c.1123A>C (p.Met375Leu)Primary familial hypertrophic cardiomyopathy [RCV003814498]uncertain significance1166101926610192Human1name
402518993CV3135928single nucleotide variantNM_004517.4(ILK):c.1169T>C (p.Val390Ala)Primary familial hypertrophic cardiomyopathy [RCV003824554]uncertain significance1166102386610238Human1name
405689573CV3390105single nucleotide variantNM_004517.4(ILK):c.1037G>A (p.Cys346Tyr)not specified [RCV004519026]uncertain significance1166099946609994Humanname
405689345CV3390107single nucleotide variantNM_004517.4(ILK):c.1153C>A (p.Leu385Met)not specified [RCV004519028]uncertain significance1166102226610222Humanname
405689348CV3390108single nucleotide variantNM_004517.4(ILK):c.1204A>G (p.Met402Val)not specified [RCV004519029]uncertain significance1166102736610273Humanname
597775144CV3686631single nucleotide variantNM_004517.4(ILK):c.1077A>C (p.Glu359Asp)not specified [RCV004929309]uncertain significance1166100346610034Humanname
597775152CV3686633single nucleotide variantNM_004517.4(ILK):c.1168G>A (p.Val390Ile)not specified [RCV004929311]uncertain significance1166102376610237Humanname
597775163CV3686636single nucleotide variantNM_004517.4(ILK):c.1159A>G (p.Thr387Ala)not specified [RCV004929314]uncertain significance1166102286610228Humanname
597775204CV3686647single nucleotide variantNM_004517.4(ILK):c.1015G>T (p.Asp339Tyr)not specified [RCV004929325]uncertain significance1166099726609972Humanname
597775208CV3686648single nucleotide variantNM_004517.4(ILK):c.1003A>G (p.Ile335Val)not specified [RCV004929326]uncertain significance1166099606609960Humanname
597775223CV3686652single nucleotide variantNM_004517.4(ILK):c.1294G>A (p.Asp432Asn)not specified [RCV004929330]uncertain significance1166105466610546Humanname
597889258CV3739385single nucleotide variantNM_004517.4(ILK):c.1048A>C (p.Met350Leu)Primary familial hypertrophic cardiomyopathy [RCV005070932]|not specified [RCV005353389]uncertain significance1166100056610005Human1name
597831356CV3750924single nucleotide variantNM_004517.4(ILK):c.1038T>A (p.Cys346Ter)Primary familial hypertrophic cardiomyopathy [RCV005084668]uncertain significance1166099956609995Human1name
597962230CV3795409single nucleotide variantNM_004517.4(ILK):c.1138G>A (p.Val380Met)Primary familial hypertrophic cardiomyopathy [RCV005139101]uncertain significance1166102076610207Human1name
597902662CV3800200single nucleotide variantNM_004517.4(ILK):c.1273A>C (p.Met425Leu)Primary familial hypertrophic cardiomyopathy [RCV005127372]uncertain significance1166105256610525Human1name
598180627CV3972386single nucleotide variantNM_004517.4(ILK):c.1088A>G (p.Lys363Arg)not specified [RCV005352366]uncertain significance1166101576610157Humanname
598180632CV3972387single nucleotide variantNM_004517.4(ILK):c.1125G>A (p.Met375Ile)not specified [RCV005352367]uncertain significance1166101946610194Humanname
598207798CV3972390single nucleotide variantNM_004517.4(ILK):c.1100A>G (p.Asp367Gly)not specified [RCV005338029]uncertain significance1166101696610169Humanname
12913690CV421873single nucleotide variantNM_004517.4(ILK):c.1112G>A (p.Arg371His)Primary familial hypertrophic cardiomyopathy [RCV001865539]|not provided [RCV000494130]uncertain significance1166101816610181Human1name
13471816CV461894single nucleotide variantNM_004517.4(ILK):c.1252T>C (p.Ser418Pro)Primary familial hypertrophic cardiomyopathy [RCV000547062]uncertain significance1166105046610504Human1name
13533476CV497206single nucleotide variantNM_004517.4(ILK):c.1285A>G (p.Met429Val)not specified [RCV000601675]uncertain significance1166105376610537Humanname
13606720CV526701single nucleotide variantNM_004517.4(ILK):c.1258C>T (p.His420Tyr)Primary familial hypertrophic cardiomyopathy [RCV000638615]uncertain significance1166105106610510Human1name
13807375CV566070single nucleotide variantNM_004517.4(ILK):c.1353C>G (p.Asp451Glu)Primary familial hypertrophic cardiomyopathy [RCV000701076]uncertain significance1166106056610605Human1name
14711719CV640339single nucleotide variantNM_004517.4(ILK):c.1306C>T (p.Arg436Ter)Primary familial hypertrophic cardiomyopathy [RCV000810048]uncertain significance1166105586610558Human1name
26905397CV838783single nucleotide variantNM_004517.4(ILK):c.1046G>A (p.Arg349His)Primary familial hypertrophic cardiomyopathy [RCV001071863]uncertain significance1166100036610003Human1name
26917401CV838784single nucleotide variantNM_004517.4(ILK):c.1149G>A (p.Trp383Ter)Primary familial hypertrophic cardiomyopathy [RCV001041826]uncertain significance1166102186610218Human1name
26913023CV838785single nucleotide variantNM_004517.4(ILK):c.1238T>A (p.Ile413Asn)Primary familial hypertrophic cardiomyopathy [RCV001035063]uncertain significance1166104906610490Human1name
38493694CV926346single nucleotide variantNM_004517.4(ILK):c.1162C>T (p.Arg388Trp)Primary familial hypertrophic cardiomyopathy [RCV001224448]|not specified [RCV004032511]uncertain significance1166102316610231Human1name
38457663CV935695single nucleotide variantNM_004517.4(ILK):c.1045C>T (p.Arg349Cys)Primary familial hypertrophic cardiomyopathy [RCV001211196]uncertain significance1166100026610002Human1name
38487300CV935696single nucleotide variantNM_004517.4(ILK):c.1256C>T (p.Pro419Leu)Primary familial hypertrophic cardiomyopathy [RCV001209258]|not provided [RCV002224023]uncertain significance1166105086610508Human1name
38473644CV956590single nucleotide variantNM_004517.4(ILK):c.1357T>C (p.Ter453Gln)Primary familial hypertrophic cardiomyopathy [RCV001242658]uncertain significance1166106096610609Human1name
597898438CV3782564deletionNM_004517.4(ILK):c.409_446del (p.Val137fs)Primary familial hypertrophic cardiomyopathy [RCV005126789]uncertain significance1166087516608788Human1name
126754698CV1009851deletionNM_004517.4(ILK):c.1321_1322del (p.Met441fs)Primary familial hypertrophic cardiomyopathy [RCV001327566]uncertain significance1166105736610574Human1name
156264215CV2138849deletionNM_004517.4(ILK):c.1105_1108del (p.Asn369fs)ILK-related disorder [RCV003410017]|Primary familial hypertrophic cardiomyopathy [RCV002988579]uncertain significance1166101716610174Human2name , trait , alternate_id
597872406CV3747166deletionNM_004517.4(ILK):c.1259_1260del (p.His420fs)Primary familial hypertrophic cardiomyopathy [RCV005068850]uncertain significance1166105116610512Human1name
14736480CV640336deletionNM_004517.4(ILK):c.164_181del (p.Met55_Ile60del)Primary familial hypertrophic cardiomyopathy [RCV000820041]uncertain significance1166081156608132Human1name
597913691CV3740516deletionNM_004517.4(ILK):c.625_636del (p.Lys209_Trp212del)Primary familial hypertrophic cardiomyopathy [RCV005073853]uncertain significance1166093026609313Human1name
155948912CV2273571single nucleotide variantNM_030768.3(ILKAP):c.68A>G (p.Gln23Arg)not specified [RCV004134097]uncertain significance2238194858238194858Humanname
597775227CV3686653single nucleotide variantNM_030768.3(ILKAP):c.38C>T (p.Ser13Leu)not specified [RCV004929331]uncertain significance2238203516238203516Humanname
156055935CV2326624single nucleotide variantNM_030768.3(ILKAP):c.226G>A (p.Gly76Arg)not specified [RCV004183162]uncertain significance2238189925238189925Humanname
329354214CV2437005single nucleotide variantNM_030768.3(ILKAP):c.172G>A (p.Asp58Asn)not specified [RCV004260372]uncertain significance2238194281238194281Humanname
329393599CV2471991single nucleotide variantNM_030768.3(ILKAP):c.106A>G (p.Ser36Gly)not specified [RCV004283147]uncertain significance2238194820238194820Humanname
401758661CV2700679single nucleotide variantNM_030768.3(ILKAP):c.229G>A (p.Ala77Thr)not specified [RCV004313394]uncertain significance2238189922238189922Humanname
405805341CV3271307single nucleotide variantNM_030768.3(ILKAP):c.225A>T (p.Lys75Asn)not specified [RCV004405368]uncertain significance2238189926238189926Humanname
597775446CV3686655single nucleotide variantNM_030768.3(ILKAP):c.157C>G (p.Pro53Ala)not specified [RCV004929333]uncertain significance2238194296238194296Humanname
15186636CV697450single nucleotide variantNM_030768.3(ILKAP):c.1080C>T (p.Asp360=)not provided [RCV000953344]benign2238170635238170635Humanname
156177065CV2296976single nucleotide variantNM_030768.3(ILKAP):c.891G>C (p.Gln297His)not specified [RCV004150906]uncertain significance2238173599238173599Humanname
401728101CV2675955single nucleotide variantNM_030768.3(ILKAP):c.305C>T (p.Ser102Leu)not specified [RCV004281951]uncertain significance2238188251238188251Humanname
401865644CV2786079single nucleotide variantNM_030768.3(ILKAP):c.742A>T (p.Ser248Cys)not specified [RCV004359897]uncertain significance2238182159238182159Humanname
405805339CV3271308single nucleotide variantNM_030768.3(ILKAP):c.745C>A (p.Gln249Lys)not specified [RCV004405369]uncertain significance2238182156238182156Humanname
405805337CV3271309single nucleotide variantNM_030768.3(ILKAP):c.924C>G (p.Asp308Glu)not specified [RCV004405370]uncertain significance2238173566238173566Humanname
405805335CV3271310single nucleotide variantNM_030768.3(ILKAP):c.950A>G (p.Asn317Ser)not specified [RCV004405371]uncertain significance2238173540238173540Humanname
407516207CV3444678single nucleotide variantNM_030768.3(ILKAP):c.856G>A (p.Val286Met)not specified [RCV004628119]uncertain significance2238173634238173634Humanname
598207817CV3972393single nucleotide variantNM_030768.3(ILKAP):c.856G>T (p.Val286Leu)not specified [RCV005338032]uncertain significance2238173634238173634Humanname
598180654CV3972394single nucleotide variantNM_030768.3(ILKAP):c.451T>G (p.Phe151Val)not specified [RCV005352370]uncertain significance2238185262238185262Humanname
156295474CV2321507single nucleotide variantNM_030768.3(ILKAP):c.1166G>A (p.Arg389Gln)not specified [RCV004177476]uncertain significance2238170549238170549Humanname
156128590CV2358482single nucleotide variantNM_030768.3(ILKAP):c.1090G>A (p.Glu364Lys)not specified [RCV004207370]uncertain significance2238170625238170625Humanname
401722880CV2677125single nucleotide variantNM_030768.3(ILKAP):c.1047G>T (p.Lys349Asn)not specified [RCV004295760]uncertain significance2238170668238170668Humanname
401769654CV2689874single nucleotide variantNM_030768.3(ILKAP):c.1078G>A (p.Asp360Asn)not specified [RCV004297771]uncertain significance2238170637238170637Humanname
401738059CV2714306single nucleotide variantNM_030768.3(ILKAP):c.1055C>A (p.Thr352Asn)not specified [RCV004315989]uncertain significance2238170660238170660Humanname