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778 records found for search term Lpin1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11658068CV282335single nucleotide variantNM_145693.3(LPIN1):c.-69G>AAcute Recurrent Myoglobinuria [RCV000346136]uncertain significance21174661211746612Human1name
11588418CV283733single nucleotide variantNM_145693.3(LPIN1):c.-75T>GAcute Recurrent Myoglobinuria [RCV000302981]uncertain significance21174660611746606Human1name
14746486CV657973single nucleotide variantNM_145693.2(LPIN1):c.-5609A>Cnot provided [RCV000844504]benign21174107211741072Humanname
14746490CV658145single nucleotide variantNM_145693.2(LPIN1):c.-4998T>Gnot provided [RCV000844509]benign21174168311741683Humanname
8576338CV110704single nucleotide variantNM_145693.2(LPIN1):c.-9-576C>TLung cancer [RCV000091227]uncertain significance21176495711764957Humanname
11597559CV282336single nucleotide variantNM_001349206.2(LPIN1):c.-26A>GMyoglobinuria, acute recurrent, autosomal recessive [RCV000395316]uncertain significance21174665511746655Human1name
11588912CV282337single nucleotide variantNM_001349206.2(LPIN1):c.-11C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV000306579]uncertain significance21174667011746670Human1name
11655742CV282343single nucleotide variantNM_001349206.2(LPIN1):c.*99C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV000327841]uncertain significance21182489011824890Human1name
14745227CV657972single nucleotide variantNM_145693.2(LPIN1):c.-32819A>Tnot provided [RCV000843234]benign21171386211713862Humanname
14718270CV658012single nucleotide variantNM_145693.2(LPIN1):c.-69443G>Anot provided [RCV000830338]benign21167723811677238Humanname
14706022CV658014single nucleotide variantNM_145693.2(LPIN1):c.-69102G>Anot provided [RCV000826389]benign21167757911677579Humanname
14716755CV658016single nucleotide variantNM_145693.2(LPIN1):c.-33052G>Anot provided [RCV000829839]benign21171362911713629Humanname
14745225CV658027single nucleotide variantNM_145693.2(LPIN1):c.-33033T>Cnot provided [RCV000843233]benign21171364811713648Humanname
14716759CV658131single nucleotide variantNM_145693.2(LPIN1):c.-33085T>Cnot provided [RCV000829840]benign21171359611713596Humanname
14716810CV658135single nucleotide variantNM_145693.2(LPIN1):c.-32795G>Anot provided [RCV000829856]benign21171388611713886Humanname
14746480CV658140single nucleotide variantNM_145693.2(LPIN1):c.-69445T>Gnot provided [RCV000844498]benign21167723611677236Humanname
14745229CV658143single nucleotide variantNM_145693.2(LPIN1):c.-32708T>Cnot provided [RCV000843235]benign21171397311713973Humanname
28874975CV880917single nucleotide variantNM_001349206.2(LPIN1):c.-35A>GMyoglobinuria, acute recurrent, autosomal recessive [RCV001133683]uncertain significance21174664611746646Human1name
28874977CV880918single nucleotide variantNM_001349206.2(LPIN1):c.-26A>CMyoglobinuria, acute recurrent, autosomal recessive [RCV001133684]uncertain significance21174665511746655Human1name
28874980CV880919single nucleotide variantNM_001349206.2(LPIN1):c.-15C>AMyoglobinuria, acute recurrent, autosomal recessive [RCV001133685]uncertain significance21174666611746666Human1name
11587678CV281702single nucleotide variantNM_001349206.2(LPIN1):c.*541C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV000296800]uncertain significance21182533211825332Human1name
11649650CV282356single nucleotide variantNM_001349206.2(LPIN1):c.*404G>TMyoglobinuria, acute recurrent, autosomal recessive [RCV000288492]uncertain significance21182519511825195Human1name
11597012CV282357single nucleotide variantNM_001349206.2(LPIN1):c.*538C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV000388745]uncertain significance21182532911825329Human1name
11648431CV282358single nucleotide variantNM_001349206.2(LPIN1):c.*676C>GMyoglobinuria, acute recurrent, autosomal recessive [RCV000281433]uncertain significance21182546711825467Human1name
11593472CV283782single nucleotide variantNM_001349206.2(LPIN1):c.*623A>CMyoglobinuria, acute recurrent, autosomal recessive [RCV000349116]benign|uncertain significance21182541411825414Human1name
11597711CV283783single nucleotide variantNM_001349206.2(LPIN1):c.*897C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV000396979]|not provided [RCV004708377]benign|likely benign21182568811825688Human1name
11596647CV284016single nucleotide variantNM_001349206.2(LPIN1):c.*326C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV000384752]|not provided [RCV004708374]benign|likely benign21182511711825117Human1name
11591223CV284018single nucleotide variantNM_001349206.2(LPIN1):c.*425G>AMyoglobinuria, acute recurrent, autosomal recessive [RCV000327091]|not provided [RCV004708375]benign|likely benign21182521611825216Human1name
11598390CV284019single nucleotide variantNM_001349206.2(LPIN1):c.*624A>GMyoglobinuria, acute recurrent, autosomal recessive [RCV000405105]|not provided [RCV004708376]benign21182541511825415Human1name
11657103CV284025single nucleotide variantNM_001349206.2(LPIN1):c.*816A>GMyoglobinuria, acute recurrent, autosomal recessive [RCV000338823]uncertain significance21182560711825607Human1name
405283057CV3191274single nucleotide variantNM_001349206.2(LPIN1):c.-9-9G>TLPIN1-related disorder [RCV003921677]likely benign21176552411765524Humanname , trait , alternate_id
405693310CV3227240single nucleotide variantNM_001261428.3(LPIN1):c.81+5G>TMyoglobinuria, acute recurrent, autosomal recessive [RCV003993591]uncertain significance21167773311677733Human1name
28875520CV880942single nucleotide variantNM_001349206.2(LPIN1):c.*271G>AMyoglobinuria, acute recurrent, autosomal recessive [RCV001133947]uncertain significance21182506211825062Human1name
28879187CV880943single nucleotide variantNM_001349206.2(LPIN1):c.*682G>CMyoglobinuria, acute recurrent, autosomal recessive [RCV001135453]benign21182547311825473Human1name
28879192CV880944single nucleotide variantNM_001349206.2(LPIN1):c.*704A>GMyoglobinuria, acute recurrent, autosomal recessive [RCV001135454]uncertain significance21182549511825495Human1name
28879198CV880945single nucleotide variantNM_001349206.2(LPIN1):c.*777G>AMyoglobinuria, acute recurrent, autosomal recessive [RCV001135455]uncertain significance21182556811825568Human1name
28869023CV880946single nucleotide variantNM_001349206.2(LPIN1):c.*927A>GMyoglobinuria, acute recurrent, autosomal recessive [RCV001130394]uncertain significance21182571811825718Human1name
150424364CV1182982single nucleotide variantNM_001261428.3(LPIN1):c.82-39C>Tnot provided [RCV001556566]likely benign21171371711713717Humanname
150440152CV1201648single nucleotide variantNM_001261427.3(LPIN1):c.9+291G>Anot provided [RCV001583460]likely benign21174171911741719Humanname
150460539CV1236265deletionNM_001349206.2(LPIN1):c.-9-14delnot provided [RCV001649236]benign21176551111765511Humanname
150472044CV1281130single nucleotide variantNM_001349206.2(LPIN1):c.-9-21T>Gnot provided [RCV001713305]benign21176551211765512Humanname
152159723CV1544456duplicationNM_001349206.2(LPIN1):c.597-8dupnot provided [RCV002122971]benign21177360111773602Humanname
152072728CV1609591deletionNM_001349206.2(LPIN1):c.597-8delnot provided [RCV002129816]benign21177360211773602Humanname
156023221CV1920014single nucleotide variantNM_001349206.2(LPIN1):c.288+9G>Tnot provided [RCV002619502]likely benign21176786711767867Humanname
156391493CV1995680single nucleotide variantNM_001349206.2(LPIN1):c.957+6A>Tnot provided [RCV002680807]uncertain significance21177965111779651Humanname
156177165CV2010421single nucleotide variantNM_001349206.2(LPIN1):c.831-6C>Tnot provided [RCV002710666]likely benign21177951311779513Humanname
11591565CV281704single nucleotide variantNM_001349206.2(LPIN1):c.*1656G>CMyoglobinuria, acute recurrent, autosomal recessive [RCV000330376]likely benign|uncertain significance21182644711826447Human1name
11597071CV281710single nucleotide variantNM_001349206.2(LPIN1):c.*1671C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV000389533]benign|uncertain significance21182646211826462Human1name
11648533CV281712deletionNM_001349206.2(LPIN1):c.*1747delAcute Recurrent Myoglobinuria [RCV000282235]uncertain significance21182653811826538Human1name
11585749CV281715single nucleotide variantNM_001349206.2(LPIN1):c.*2029G>AMyoglobinuria, acute recurrent, autosomal recessive [RCV000283237]uncertain significance21182682011826820Human1name
11580746CV281717single nucleotide variantNM_001349206.2(LPIN1):c.*2052C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV000342967]uncertain significance21182684311826843Human1name
11584396CV281718single nucleotide variantNM_001349206.2(LPIN1):c.*2491G>AMyoglobinuria, acute recurrent, autosomal recessive [RCV000273474]benign|likely benign21182728211827282Human1name
11590275CV282364single nucleotide variantNM_001349206.2(LPIN1):c.*1708G>AMyoglobinuria, acute recurrent, autosomal recessive [RCV000317471]uncertain significance21182649911826499Human1name
11589151CV282372single nucleotide variantNM_001349206.2(LPIN1):c.*2284A>GMyoglobinuria, acute recurrent, autosomal recessive [RCV000308661]uncertain significance21182707511827075Human1name
11595228CV282373single nucleotide variantNM_001349206.2(LPIN1):c.*2302G>TMyoglobinuria, acute recurrent, autosomal recessive [RCV000368041]benign|uncertain significance21182709311827093Human1name
11580115CV283758single nucleotide variantNM_001349206.2(LPIN1):c.597-4C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV000323127]|not provided [RCV000949882]likely benign|uncertain significance21177361611773616Human1name
11650191CV283760single nucleotide variantNM_001349206.2(LPIN1):c.722+4A>GMyoglobinuria, acute recurrent, autosomal recessive [RCV000291423]uncertain significance21177374911773749Human1name
11588584CV283789deletionNM_001349206.2(LPIN1):c.*1082delAcute Recurrent Myoglobinuria [RCV000304030]likely benign21182587311825873Human1name
11659765CV283790single nucleotide variantNM_001349206.2(LPIN1):c.*1101C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV000360981]uncertain significance21182589211825892Human1name
11597713CV283801single nucleotide variantNM_001349206.2(LPIN1):c.*1263C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV000396985]uncertain significance21182605411826054Human1name
11646738CV283802single nucleotide variantNM_001349206.2(LPIN1):c.*1357G>CMyoglobinuria, acute recurrent, autosomal recessive [RCV000272408]uncertain significance21182614811826148Human1name
11594838CV283806single nucleotide variantNM_001349206.2(LPIN1):c.*1400T>CMyoglobinuria, acute recurrent, autosomal recessive [RCV000363530]|not provided [RCV004708378]benign21182619111826191Human1name
11592278CV283812single nucleotide variantNM_001349206.2(LPIN1):c.*1780A>GMyoglobinuria, acute recurrent, autosomal recessive [RCV000337106]uncertain significance21182657111826571Human1name
11597537CV283813single nucleotide variantNM_001349206.2(LPIN1):c.*2082C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV000395182]|not provided [RCV004710837]likely benign|uncertain significance21182687311826873Human1name
11654038CV283814single nucleotide variantNM_001349206.2(LPIN1):c.*2597C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV000314492]uncertain significance21182738811827388Human1name
11660166CV284032single nucleotide variantNM_001349206.2(LPIN1):c.*1343T>CMyoglobinuria, acute recurrent, autosomal recessive [RCV000364564]uncertain significance21182613411826134Human1name
11588901CV284033single nucleotide variantNM_001349206.2(LPIN1):c.*1374G>CMyoglobinuria, acute recurrent, autosomal recessive [RCV000306481]uncertain significance21182616511826165Human1name
11584642CV284035single nucleotide variantNM_001349206.2(LPIN1):c.*1570C>GMyoglobinuria, acute recurrent, autosomal recessive [RCV000275323]|not provided [RCV004708379]benign|likely benign21182636111826361Human1name
11584787CV284043single nucleotide variantNM_001349206.2(LPIN1):c.*1699G>AMyoglobinuria, acute recurrent, autosomal recessive [RCV000276368]benign|likely benign21182649011826490Human1name
11660972CV284057deletionNM_001349206.2(LPIN1):c.*1722delAcute Recurrent Myoglobinuria [RCV000372003]uncertain significance21182651311826513Human1name
11661569CV284058deletionNM_001349206.2(LPIN1):c.*2005delAcute Recurrent Myoglobinuria [RCV000377645]uncertain significance21182679311826793Human1name
11589047CV284060single nucleotide variantNM_001349206.2(LPIN1):c.*2086C>GMyoglobinuria, acute recurrent, autosomal recessive [RCV000307932]|not provided [RCV004708380]benign|likely benign21182687711826877Human1name
11592950CV284066single nucleotide variantNM_001349206.2(LPIN1):c.*2213G>AMyoglobinuria, acute recurrent, autosomal recessive [RCV000344077]uncertain significance21182700411827004Human1name
11597536CV284073single nucleotide variantNM_001349206.2(LPIN1):c.*2274C>GMyoglobinuria, acute recurrent, autosomal recessive [RCV000395179]likely benign|uncertain significance21182706511827065Human1name
402474115CV2919643single nucleotide variantNM_001349206.2(LPIN1):c.193-2A>Gnot provided [RCV003571130]likely pathogenic21176776111767761Humanname
597910383CV3806597single nucleotide variantNM_001349206.2(LPIN1):c.957+9C>Gnot provided [RCV005154164]likely benign21177965411779654Humanname
597930329CV3837559single nucleotide variantNM_001349206.2(LPIN1):c.831-7C>Tnot provided [RCV005185717]likely benign21177951211779512Humanname
598220659CV3891831duplicationNM_001349206.2(LPIN1):c.288+2dupMyoglobinuria, acute recurrent, autosomal recessive [RCV005253169]pathogenic21176785911767860Human1name
598226391CV3895793single nucleotide variantNM_001349206.2(LPIN1):c.193-2A>TMyoglobinuria, acute recurrent, autosomal recessive [RCV005362086]likely pathogenic21176776111767761Human1name
13486107CV442908single nucleotide variantNM_001349206.2(LPIN1):c.-10+4A>Gnot provided [RCV000522800]uncertain significance21174667511746675Humanname
13474101CV442909single nucleotide variantNM_001349206.2(LPIN1):c.723-2A>CMyoglobinuria, acute recurrent, autosomal recessive [RCV002506266]|not provided [RCV000519553]uncertain significance21177608411776084Human1name
15171709CV777134single nucleotide variantNM_001349206.2(LPIN1):c.597-6C>Tnot provided [RCV000949881]likely benign21177361411773614Humanname
28869026CV880947single nucleotide variantNM_001349206.2(LPIN1):c.*1066A>GMyoglobinuria, acute recurrent, autosomal recessive [RCV001130395]uncertain significance21182585711825857Human1name
28869028CV880948single nucleotide variantNM_001349206.2(LPIN1):c.*1100T>CMyoglobinuria, acute recurrent, autosomal recessive [RCV001130396]uncertain significance21182589111825891Human1name
28870296CV880949single nucleotide variantNM_001349206.2(LPIN1):c.*1430C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV001131115]uncertain significance21182622111826221Human1name
28870300CV880950single nucleotide variantNM_001349206.2(LPIN1):c.*1487G>AMyoglobinuria, acute recurrent, autosomal recessive [RCV001131116]uncertain significance21182627811826278Human1name
28870305CV880951single nucleotide variantNM_001349206.2(LPIN1):c.*1582T>GMyoglobinuria, acute recurrent, autosomal recessive [RCV001131117]uncertain significance21182637311826373Human1name
28870309CV880952single nucleotide variantNM_001349206.2(LPIN1):c.*1604T>CMyoglobinuria, acute recurrent, autosomal recessive [RCV001131118]likely benign21182639511826395Human1name
28875655CV880953single nucleotide variantNM_001349206.2(LPIN1):c.*1714C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV001134067]uncertain significance21182650511826505Human1name
28875660CV880954single nucleotide variantNM_001349206.2(LPIN1):c.*1723A>CMyoglobinuria, acute recurrent, autosomal recessive [RCV001134068]uncertain significance21182651411826514Human1name
28875663CV880955single nucleotide variantNM_001349206.2(LPIN1):c.*1744A>GMyoglobinuria, acute recurrent, autosomal recessive [RCV001134069]uncertain significance21182653511826535Human1name
28875668CV880956single nucleotide variantNM_001349206.2(LPIN1):c.*1772G>CMyoglobinuria, acute recurrent, autosomal recessive [RCV001134070]uncertain significance21182656311826563Human1name
28875670CV880957single nucleotide variantNM_001349206.2(LPIN1):c.*1933G>CMyoglobinuria, acute recurrent, autosomal recessive [RCV001134071]likely benign21182672411826724Human1name
28879532CV880958single nucleotide variantNM_001349206.2(LPIN1):c.*1997C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV001135573]uncertain significance21182678811826788Human1name
28879536CV880959single nucleotide variantNM_001349206.2(LPIN1):c.*2145A>GMyoglobinuria, acute recurrent, autosomal recessive [RCV001135574]uncertain significance21182693611826936Human1name
28879543CV880960single nucleotide variantNM_001349206.2(LPIN1):c.*2208T>CMyoglobinuria, acute recurrent, autosomal recessive [RCV001135575]likely benign21182699911826999Human1name
8643406CV102389single nucleotide variantNM_001349206.2(LPIN1):c.192+17C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV001730510]|not provided [RCV002055229]|not specified [RCV000082647]benign21176575011765750Human1name
150339030CV1167214single nucleotide variantNM_001261427.3(LPIN1):c.-71-55C>Tnot provided [RCV001533996]likely benign21174129411741294Humanname
150409518CV1175973single nucleotide variantNM_001349206.2(LPIN1):c.193-97C>Gnot provided [RCV001546282]likely benign21176766611767666Humanname
150415826CV1179318single nucleotide variantNM_001349206.2(LPIN1):c.-9-192C>Tnot provided [RCV001549313]likely benign21176534111765341Humanname
150425759CV1182981single nucleotide variantNM_001261428.3(LPIN1):c.81+129G>Tnot provided [RCV001558438]likely benign21167785711677857Humanname
150427981CV1186256single nucleotide variantNM_001349206.2(LPIN1):c.830+65A>Gnot provided [RCV001561652]likely benign21177625811776258Humanname
150409434CV1189686single nucleotide variantNM_001261428.3(LPIN1):c.81+198G>Cnot provided [RCV001565667]likely benign21167792611677926Humanname
150414280CV1189687duplicationNM_001261428.3(LPIN1):c.82-154dupnot provided [RCV001567466]likely benign21171359311713594Humanname
150405314CV1192923single nucleotide variantNM_001261428.3(LPIN1):c.82-285A>Gnot provided [RCV001571572]likely benign21171347111713471Humanname
150438343CV1201389single nucleotide variantNM_001261428.3(LPIN1):c.81+171T>Cnot provided [RCV001583201]likely benign21167789911677899Humanname
150433034CV1203518single nucleotide variantNM_001349206.2(LPIN1):c.-9-269G>Cnot provided [RCV001581673]likely benign21176526411765264Humanname
150478034CV1207598single nucleotide variantNM_001349206.2(LPIN1):c.597-18T>AMyoglobinuria, acute recurrent, autosomal recessive [RCV002495951]|not provided [RCV001589874]benign|likely benign21177360211773602Human1name
150464048CV1214873single nucleotide variantNM_001261428.3(LPIN1):c.82-297C>Gnot provided [RCV001613869]benign21171345911713459Humanname
150461754CV1234819single nucleotide variantNM_001261428.3(LPIN1):c.82-299G>Tnot provided [RCV001649401]benign21171345711713457Humanname
150430515CV1243343single nucleotide variantNM_001349206.2(LPIN1):c.830+36A>Gnot provided [RCV001662960]benign21177622911776229Humanname
150448368CV1261958single nucleotide variantNM_001261428.3(LPIN1):c.138+25C>Tnot provided [RCV001680343]benign21171383711713837Humanname
150491647CV1280510single nucleotide variantNM_001261428.3(LPIN1):c.81+275G>Anot provided [RCV001716675]benign21167800311678003Humanname
150495578CV1282989single nucleotide variantNM_001261428.3(LPIN1):c.81+165G>Anot provided [RCV001717411]benign21167789311677893Humanname
151834668CV1394237single nucleotide variantNM_001349206.2(LPIN1):c.1887-1G>CMyoglobinuria, acute recurrent, autosomal recessive [RCV005014699]|not provided [RCV002051077]likely pathogenic21180290611802906Human1name
151808237CV1417848single nucleotide variantNM_001349206.2(LPIN1):c.1550-7G>Anot provided [RCV001867753]likely benign|uncertain significance21178706711787067Humanname
151864873CV1509598single nucleotide variantNM_001349206.2(LPIN1):c.2622-1G>Tnot provided [RCV001924476]uncertain significance21182463111824631Humanname
151793180CV1511199single nucleotide variantNM_001349206.2(LPIN1):c.1807-2A>GMyoglobinuria, acute recurrent, autosomal recessive [RCV002497902]|not provided [RCV001990266]pathogenic|likely pathogenic21179540611795406Human1name
152086658CV1602337single nucleotide variantNM_001349206.2(LPIN1):c.597-15T>Cnot provided [RCV002113481]likely benign21177360511773605Humanname
152066531CV1620204single nucleotide variantNM_001349206.2(LPIN1):c.722+19C>Gnot provided [RCV002209421]likely benign21177376411773764Humanname
152119849CV1659315single nucleotide variantNM_001349206.2(LPIN1):c.1265-8C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV002498165]|not provided [RCV002175424]likely benign21178382111783821Human1name
153300991CV1688824single nucleotide variantNM_001349206.2(LPIN1):c.1714-1G>Tnot provided [RCV002266557]not provided21179191311791913Humanname
156332033CV1884523single nucleotide variantNM_001349206.2(LPIN1):c.1549+8G>Anot provided [RCV003089856]likely benign21178508411785084Humanname
156317937CV1903955single nucleotide variantNM_001349206.2(LPIN1):c.1886+9G>Tnot provided [RCV003088829]likely benign21179549611795496Humanname
156159987CV1906829single nucleotide variantNM_001349206.2(LPIN1):c.2250-7C>Tnot provided [RCV003082855]likely benign21181508111815081Humanname
156029176CV1914243single nucleotide variantNM_001349206.2(LPIN1):c.722+20C>Tnot provided [RCV002619771]likely benign21177376511773765Humanname
156310194CV1925089single nucleotide variantNM_001349206.2(LPIN1):c.1807-9C>Anot provided [RCV002629718]likely benign21179539911795399Humanname
156128210CV1927403single nucleotide variantNM_001349206.2(LPIN1):c.192+19G>Cnot provided [RCV002640606]benign21176575211765752Humanname
8558355CV19953single nucleotide variantNM_001349206.2(LPIN1):c.1549+2T>CMyoglobinuria, acute recurrent, autosomal recessive [RCV000005196]pathogenic21178507811785078Human1name
155944486CV2003074single nucleotide variantNM_001349206.2(LPIN1):c.957+15A>Tnot provided [RCV002685665]likely benign21177966011779660Humanname
156100024CV2009699single nucleotide variantNM_001349206.2(LPIN1):c.192+18G>Anot provided [RCV002706633]likely benign21176575111765751Humanname
156267137CV2011284deletionNM_001349206.2(LPIN1):c.1359-5delnot provided [RCV002714855]likely benign21178488011784880Humanname
155949313CV2036263single nucleotide variantNM_001349206.2(LPIN1):c.1643+9C>Tnot provided [RCV002775684]likely benign21178717611787176Humanname
156376517CV2059682single nucleotide variantNM_001349206.2(LPIN1):c.1887-7G>Anot provided [RCV002814738]likely benign21180290011802900Humanname
155907282CV2077424single nucleotide variantNM_001349206.2(LPIN1):c.597-12T>Gnot provided [RCV002858233]likely benign21177360811773608Humanname
156218407CV2087437single nucleotide variantNM_001349206.2(LPIN1):c.722+12C>Gnot provided [RCV002875768]likely benign21177375711773757Humanname
156291437CV2111421single nucleotide variantNM_001349206.2(LPIN1):c.2402+3A>Gnot provided [RCV002922169]uncertain significance21181524311815243Humanname
156314672CV2120261single nucleotide variantNM_001349206.2(LPIN1):c.1549+6G>Anot provided [RCV002962825]uncertain significance21178508211785082Humanname
156251603CV2130175single nucleotide variantNM_001349206.2(LPIN1):c.957+16A>Gnot provided [RCV002959228]likely benign21177966111779661Humanname
11545304CV250093single nucleotide variantNM_001349206.2(LPIN1):c.193-47C>Tnot provided [RCV000829604]|not specified [RCV000244954]benign21176771611767716Humanname
11552445CV250094single nucleotide variantNM_001349206.2(LPIN1):c.193-43G>Tnot provided [RCV001570799]|not specified [RCV000254385]benign|likely benign21176772011767720Humanname
11549263CV250095single nucleotide variantNM_001349206.2(LPIN1):c.289-35C>Tnot specified [RCV000250181]likely benign21177133711771337Humanname
11579197CV283781single nucleotide variantNM_001349206.2(LPIN1):c.1886+7T>CMyoglobinuria, acute recurrent, autosomal recessive [RCV000297725]|not provided [RCV002057563]likely benign|uncertain significance21179549411795494Human1name
405055486CV2890248single nucleotide variantNM_001349206.2(LPIN1):c.1265-4T>CLPIN1-related disorder [RCV003946724]|not provided [RCV003580030]likely benign21178382511783825Human1name , trait , alternate_id
405066731CV2936695single nucleotide variantNM_001349206.2(LPIN1):c.596+10G>Anot provided [RCV003659168]likely benign21177168911771689Humanname
405067340CV2936748single nucleotide variantNM_001349206.2(LPIN1):c.957+20T>Cnot provided [RCV003659207]likely benign21177966511779665Humanname
402486911CV2999123single nucleotide variantNM_001349206.2(LPIN1):c.2621+3G>Anot provided [RCV003687150]uncertain significance21182051711820517Humanname
405200717CV3041296single nucleotide variantNM_001349206.2(LPIN1):c.1887-2A>Cnot provided [RCV003707415]likely pathogenic21180290511802905Humanname
405205678CV3144266single nucleotide variantNM_001349206.2(LPIN1):c.1359-9T>Anot provided [RCV003845056]likely benign21178487711784877Humanname
405078022CV3156308single nucleotide variantNM_001349206.2(LPIN1):c.288+14G>Tnot provided [RCV003851366]likely benign21176787211767872Humanname
12740986CV359338single nucleotide variantNM_001349206.2(LPIN1):c.2162+5G>ALPIN1-related disorder [RCV003970094]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005018710]|not provided [RCV002523957]|not specified [RCV000413731]likely benign|uncertain significance21180457611804576Human1name , trait , alternate_id
597752170CV3706014single nucleotide variantNM_001349206.2(LPIN1):c.831-16T>GMyoglobinuria, acute recurrent, autosomal recessive [RCV005016026]uncertain significance21177950311779503Human1name
597703669CV3706037microsatelliteNM_145693.4(LPIN1):c.1532_1535delMyoglobinuria, acute recurrent, autosomal recessive [RCV005016039]likely pathogenic21178716311787166Humanname
597752240CV3706041single nucleotide variantNM_001349206.2(LPIN1):c.1807-1G>AMyoglobinuria, acute recurrent, autosomal recessive [RCV005016041]|not provided [RCV005112728]pathogenic|likely pathogenic21179540711795407Human1name
597663733CV3706044single nucleotide variantNM_001349206.2(LPIN1):c.1886+4C>AMyoglobinuria, acute recurrent, autosomal recessive [RCV005028798]uncertain significance21179549111795491Human1name
597663810CV3706063single nucleotide variantNM_001349206.2(LPIN1):c.2621+1G>AMyoglobinuria, acute recurrent, autosomal recessive [RCV005028806]|not provided [RCV005112729]pathogenic|likely pathogenic21182051511820515Human1name
597873204CV3836263single nucleotide variantNM_001349206.2(LPIN1):c.2250-8T>CMyoglobinuria, acute recurrent, autosomal recessive [RCV005230857]|not provided [RCV005177060]likely benign21181508011815080Human1name
597917637CV3842117single nucleotide variantNM_001349206.2(LPIN1):c.1550-9C>Tnot provided [RCV005183792]likely benign21178706511787065Humanname
597905261CV3846503single nucleotide variantNM_001349206.2(LPIN1):c.1358+9C>Anot provided [RCV005181930]likely benign21178393111783931Humanname
597872608CV3849526single nucleotide variantNM_001349206.2(LPIN1):c.1886+8A>Gnot provided [RCV005197707]likely benign21179549511795495Humanname
12901201CV405285single nucleotide variantNM_001349206.2(LPIN1):c.2163-1G>Tnot provided [RCV000484136]uncertain significance21180506911805069Humanname
13534554CV498895single nucleotide variantNM_001349206.2(LPIN1):c.1264+5C>TMyoglobinuria, acute recurrent, autosomal recessive [RCV005027724]|not provided [RCV005091705]|not specified [RCV000607359]likely benign|uncertain significance21178251211782512Human1name
14745231CV657967single nucleotide variantNM_001261428.3(LPIN1):c.138+26G>AMyoglobinuria, acute recurrent, autosomal recessive [RCV001730737]|not provided [RCV000843238]benign21171383811713838Human4name
14745231CV657967single nucleotide variantNM_001261428.3(LPIN1):c.138+26G>AMyoglobinuria, acute recurrent, autosomal recessive [RCV001730737]|not provided [RCV000843238]benign21171383811713839Human4name
14738306CV658166single nucleotide variantNM_001349206.2(LPIN1):c.-9-161C>Tnot provided [RCV000839339]benign21176537211765372Humanname
15189580CV743788single nucleotide variantNM_001349206.2(LPIN1):c.2621+9T>Gnot provided [RCV000909692]likely benign21182052311820523Humanname
28875239CV882788single nucleotide variantNM_001349206.2(LPIN1):c.1265-7G>AMyoglobinuria, acute recurrent, autosomal recessive [RCV001133827]|not provided [RCV002556867]likely benign|uncertain significance21178382211783822Human1name
28878838CV882789single nucleotide variantNM_001349206.2(LPIN1):c.1886+5G>AMyoglobinuria, acute recurrent, autosomal recessive [RCV001135322]|not provided [RCV002556884]uncertain significance21179549211795492Human1name
28870067CV882790single nucleotide variantNM_001349206.2(LPIN1):c.2403-8T>GMyoglobinuria, acute recurrent, autosomal recessive [RCV001130992]uncertain significance21181947611819476Human1name
38476271CV940653deletionNM_001349206.2(LPIN1):c.2162+1delnot provided [RCV001215562]pathogenic21180457111804571Humanname
150333329CV1170793single nucleotide variantNM_001349206.2(LPIN1):c.957+249T>Gnot provided [RCV001539440]benign21177989411779894Humanname
150411064CV1175974single nucleotide variantNM_001349206.2(LPIN1):c.1644-90C>Tnot provided [RCV001546964]likely benign21178829711788297Humanname
150421800CV1179319single nucleotide variantNM_001349206.2(LPIN1):c.957+130G>Tnot provided [RCV001552181]likely benign21177977511779775Humanname
150425638CV1182983single nucleotide variantNM_001349206.2(LPIN1):c.1359-51C>Gnot provided [RCV001558276]likely benign21178483511784835Humanname
150405142CV1189688single nucleotide variantNM_001349206.2(LPIN1):c.597-317G>Cnot provided [RCV001564143]likely benign21177330311773303Humanname
150408100CV1189690single nucleotide variantNM_001349206.2(LPIN1):c.2250-74T>Cnot provided [RCV001565207]likely benign21181501411815014Humanname
150416711CV1192925single nucleotide variantNM_001349206.2(LPIN1):c.958-196A>Gnot provided [RCV001568462]likely benign21178200511782005Humanname
150414407CV1196687duplicationNM_001349206.2(LPIN1):c.957+250dupnot provided [RCV001574945]likely benign21177988111779882Humanname
150416255CV1196689duplicationNM_001349206.2(LPIN1):c.2163-72dupnot provided [RCV001575755]likely benign21180498211804983Humanname
150446531CV1201739single nucleotide variantNM_001349206.2(LPIN1):c.192+147T>Cnot provided [RCV001584607]likely benign21176588011765880Humanname
150457981CV1202696single nucleotide variantNM_001349206.2(LPIN1):c.957+222C>Tnot provided [RCV001586349]likely benign21177986711779867Humanname
150451827CV1205443single nucleotide variantNM_001349206.2(LPIN1):c.288+154T>Cnot provided [RCV001585343]likely benign21176801211768012Humanname
150498428CV1208919single nucleotide variantNM_001349206.2(LPIN1):c.1886+59G>Cnot provided [RCV001594136]likely benign21179554611795546Humanname
150448722CV1215018single nucleotide variantNM_001349206.2(LPIN1):c.831-147G>Anot provided [RCV001611607]benign21177937211779372Humanname
150454933CV1232366single nucleotide variantNM_001349206.2(LPIN1):c.192+171C>Tnot provided [RCV001648380]benign21176590411765904Humanname
150464751CV1241369deletionNM_001349206.2(LPIN1):c.957+250delnot provided [RCV001649880]benign21177988211779882Humanname
150447575CV1261838single nucleotide variantNM_001349206.2(LPIN1):c.596+141G>Anot provided [RCV001680222]benign21177182011771820Humanname
150462806CV1263713single nucleotide variantNM_001349206.2(LPIN1):c.597-308C>Tnot provided [RCV001682414]benign21177331211773312Humanname
150441362CV1265544single nucleotide variantNM_001349206.2(LPIN1):c.723-171T>Cnot provided [RCV001679248]benign21177591511775915Humanname
150460971CV1275896deletionNM_001349206.2(LPIN1):c.2162+54delnot provided [RCV001709834]benign21180462111804621Humanname
150478583CV1282007single nucleotide variantNM_001349206.2(LPIN1):c.192+190G>Anot provided [RCV001714319]benign21176592311765923Humanname
150531925CV1291519deletionNM_001349206.2(LPIN1):c.2163-72delnot provided [RCV001733305]likely benign21180498311804983Humanname
152038724CV1524222single nucleotide variantNM_001349206.2(LPIN1):c.1358+12G>Anot provided [RCV002125761]benign21178393411783934Humanname
152109508CV1563889deletionNM_001349206.2(LPIN1):c.1807-18delMyoglobinuria, acute recurrent, autosomal recessive [RCV002500370]|not provided [RCV002174155]likely benign21179538811795388Human1name
152071361CV1633766single nucleotide variantNM_001349206.2(LPIN1):c.1644-17T>Gnot provided [RCV002191827]likely benign21178837011788370Humanname
156006067CV1870388single nucleotide variantNM_001349206.2(LPIN1):c.1358+20C>Tnot provided [RCV003076828]likely benign21178394211783942Humanname
156403427CV1885777single nucleotide variantNM_001349206.2(LPIN1):c.2013+20C>Tnot provided [RCV003069472]likely benign21180305311803053Humanname
156129815CV1889342single nucleotide variantNM_001349206.2(LPIN1):c.1807-10T>Cnot provided [RCV003081789]likely benign21179539811795398Humanname
156019629CV1909398single nucleotide variantNM_001349206.2(LPIN1):c.1643+10T>Cnot provided [RCV002619327]likely benign21178717711787177Humanname
156417036CV1970169single nucleotide variantNM_001349206.2(LPIN1):c.2518-19T>Cnot provided [RCV002589999]likely benign21182039211820392Humanname
156375439CV2000150single nucleotide variantNM_001349206.2(LPIN1):c.1887-13C>Tnot provided [RCV002653256]likely benign21180289411802894Humanname
156165795CV2019712single nucleotide variantNM_001349206.2(LPIN1):c.1359-19C>Anot provided [RCV002710333]likely benign21178486711784867Humanname
155901999CV2043651single nucleotide variantNM_001349206.2(LPIN1):c.1644-14T>Cnot provided [RCV002771033]likely benign21178837311788373Humanname
156010284CV2045510single nucleotide variantNM_001349206.2(LPIN1):c.1806+19G>Cnot provided [RCV002780102]likely benign21179202511792025Humanname
156275709CV2063859single nucleotide variantNM_001349206.2(LPIN1):c.1265-19G>Anot provided [RCV002856209]likely benign21178381011783810Humanname
156085491CV2080027single nucleotide variantNM_001349206.2(LPIN1):c.1806+15C>Gnot provided [RCV002847531]likely benign21179202111792021Humanname
155964743CV2085527single nucleotide variantNM_001349206.2(LPIN1):c.2250-16G>Cnot provided [RCV002881196]likely benign21181507211815072Humanname
156147385CV2130995single nucleotide variantNM_001349206.2(LPIN1):c.2517+13T>Cnot provided [RCV002982531]likely benign21181961111819611Humanname
156052683CV2137112single nucleotide variantNM_001349206.2(LPIN1):c.1358+19C>Gnot provided [RCV002999927]likely benign21178394111783941Humanname
11544479CV250100single nucleotide variantNM_001349206.2(LPIN1):c.1264+34G>Cnot specified [RCV000243849]likely benign21178254111782541Humanname
11544843CV250103single nucleotide variantNM_001349206.2(LPIN1):c.1644-36C>Tnot provided [RCV001589290]|not specified [RCV000244333]likely benign21178835111788351Humanname
11552376CV250105single nucleotide variantNM_001349206.2(LPIN1):c.1806+41G>Tnot provided [RCV000843244]|not specified [RCV000254293]benign21179204711792047Humanname
11548887CV250107single nucleotide variantNM_001349206.2(LPIN1):c.2162+39T>Cnot provided [RCV001558006]|not specified [RCV000249683]benign|likely benign21180461011804610Humanname
402488291CV2861876single nucleotide variantNM_001349206.2(LPIN1):c.2013+15C>Anot provided [RCV003544697]likely benign21180304811803048Humanname
405236072CV2887832single nucleotide variantNM_001349206.2(LPIN1):c.1887-10T>Cnot provided [RCV003556414]likely benign21180289711802897Humanname
405151874CV2888620single nucleotide variantNM_001349206.2(LPIN1):c.1264+12G>Anot provided [RCV003561787]likely benign21178251911782519Humanname
405220956CV2912773single nucleotide variantNM_001349206.2(LPIN1):c.2249+18G>Anot provided [RCV003568423]likely benign21180517411805174Humanname
405193887CV2925541single nucleotide variantNM_001349206.2(LPIN1):c.2249+12G>Cnot provided [RCV003565119]likely benign21180516811805168Humanname
405065674CV2927527single nucleotide variantNM_001349206.2(LPIN1):c.1806+12A>Gnot provided [RCV003580797]likely benign21179201811792018Humanname
405248533CV2990186single nucleotide variantNM_001349206.2(LPIN1):c.1887-11G>Cnot provided [RCV003685930]likely benign21180289611802896Humanname
405243328CV3074862single nucleotide variantNM_001349206.2(LPIN1):c.1713+18A>Gnot provided [RCV003737774]likely benign21178847411788474Humanname
405160363CV3125032single nucleotide variantNM_001349206.2(LPIN1):c.2621+10G>Anot provided [RCV003818303]likely benign21182052411820524Humanname
405234524CV3155536single nucleotide variantNM_001349206.2(LPIN1):c.2621+11T>Gnot provided [RCV003853514]likely benign21182052511820525Humanname
597663717CV3706039single nucleotide variantNM_001349206.2(LPIN1):c.1714-17C>GMyoglobinuria, acute recurrent, autosomal recessive [RCV005028796]uncertain significance21179189711791897Human1name
597663774CV3706054single nucleotide variantNM_001349206.2(LPIN1):c.2250-18A>GMyoglobinuria, acute recurrent, autosomal recessive [RCV005028802]uncertain significance21181507011815070Human1name
597663782CV3706055single nucleotide variantNM_001349206.2(LPIN1):c.2250-10T>GMyoglobinuria, acute recurrent, autosomal recessive [RCV005028803]uncertain significance21181507811815078Human1name
597835945CV3761055single nucleotide variantNM_001349206.2(LPIN1):c.2517+19A>Gnot provided [RCV005085606]likely benign21181961711819617Humanname
597838865CV3824854single nucleotide variantNM_001349206.2(LPIN1):c.1806+20C>Gnot provided [RCV005171718]likely benign21179202611792026Humanname
597965251CV3826843single nucleotide variantNM_001349206.2(LPIN1):c.2249+15C>Tnot provided [RCV005164872]likely benign21180517111805171Humanname
597901267CV3835502single nucleotide variantNM_001349206.2(LPIN1):c.1887-16T>Anot provided [RCV005181226]likely benign21180289111802891Humanname
597935539CV3845255single nucleotide variantNM_001349206.2(LPIN1):c.1887-12T>Cnot provided [RCV005186568]likely benign21180289511802895Humanname
597856665CV3849752single nucleotide variantNM_001349206.2(LPIN1):c.1359-18C>Tnot provided [RCV005195261]likely benign21178486811784868Humanname
14716062CV657994single nucleotide variantNM_001349206.2(LPIN1):c.596+152G>Tnot provided [RCV000829605]benign21177183111771831Humanname
14716065CV658002single nucleotide variantNM_001349206.2(LPIN1):c.596+176C>Gnot provided [RCV000829606]benign21177185511771855Humanname
14713498CV658046single nucleotide variantNM_001349206.2(LPIN1):c.958-273A>Gnot provided [RCV000828735]benign21178192811781928Humanname
14745234CV658057single nucleotide variantNM_001349206.2(LPIN1):c.1359-62T>Cnot provided [RCV000843240]benign21178482411784824Humanname
14745284CV658179single nucleotide variantNM_001349206.2(LPIN1):c.192+197A>Cnot provided [RCV000843268]benign21176593011765930Humanname
15149051CV778881single nucleotide variantNM_001349206.2(LPIN1):c.2163-10C>TLPIN1-related disorder [RCV003936049]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002479126]|not provided [RCV000967677]likely benign21180506011805060Human1name , trait , alternate_id
150415730CV1175975single nucleotide variantNM_001349206.2(LPIN1):c.1714-267G>Tnot provided [RCV001548710]likely benign21179164711791647Humanname
150408442CV1175976single nucleotide variantNM_001349206.2(LPIN1):c.2013+148T>Cnot provided [RCV001545893]likely benign21180318111803181Humanname
150405164CV1175977single nucleotide variantNM_001349206.2(LPIN1):c.2517+305A>Gnot provided [RCV001544736]likely benign21181990311819903Humanname
150418614CV1179320single nucleotide variantNM_001349206.2(LPIN1):c.2403-306C>Tnot provided [RCV001550677]likely benign21181917811819178Humanname
150424200CV1182984single nucleotide variantNM_001349206.2(LPIN1):c.2162+211G>Tnot provided [RCV001556351]likely benign21180478211804782Humanname
150426289CV1186257single nucleotide variantNM_001349206.2(LPIN1):c.1264+115A>Cnot provided [RCV001559382]likely benign21178262211782622Humanname
150429233CV1186258single nucleotide variantNM_001349206.2(LPIN1):c.2403-198T>Cnot provided [RCV001563324]likely benign21181928611819286Humanname
150427663CV1186259single nucleotide variantNM_001349206.2(LPIN1):c.2517+121C>Gnot provided [RCV001561232]likely benign21181971911819719Humanname
150411526CV1189689single nucleotide variantNM_001349206.2(LPIN1):c.1807-258C>Tnot provided [RCV001566621]likely benign21179515011795150Humanname
150419139CV1192927single nucleotide variantNM_001349206.2(LPIN1):c.2518-304C>Tnot provided [RCV001569548]likely benign21182010711820107Humanname
150419494CV1196688single nucleotide variantNM_001349206.2(LPIN1):c.1549+296T>Cnot provided [RCV001577204]likely benign21178537211785372Humanname
150416173CV1196690single nucleotide variantNM_001349206.2(LPIN1):c.2517+205G>Anot provided [RCV001575710]likely benign21181980311819803Humanname
150417289CV1196691single nucleotide variantNM_001349206.2(LPIN1):c.2622-297G>Cnot provided [RCV001576232]likely benign21182433511824335Humanname
150432334CV1200611single nucleotide variantNM_001349206.2(LPIN1):c.1713+226G>Anot provided [RCV001581334]likely benign21178868211788682Humanname
150446684CV1201762single nucleotide variantNM_001349206.2(LPIN1):c.1644-264C>Tnot provided [RCV001584630]likely benign21178812311788123Humanname
150476189CV1202352single nucleotide variantNM_001349206.2(LPIN1):c.2014-330C>Tnot provided [RCV001589596]likely benign21180409311804093Humanname
150487044CV1203396single nucleotide variantNM_001349206.2(LPIN1):c.2403-300G>Anot provided [RCV001591574]likely benign21181918411819184Humanname
150495995CV1205956single nucleotide variantNM_001349206.2(LPIN1):c.2249+213A>Cnot provided [RCV001593638]likely benign21180536911805369Humanname
150496508CV1206104single nucleotide variantNM_001349206.2(LPIN1):c.1713+276G>Cnot provided [RCV001593786]likely benign21178873211788732Humanname
150462639CV1206618single nucleotide variantNM_001349206.2(LPIN1):c.1644-199T>Cnot provided [RCV001587019]likely benign21178818811788188Humanname
150472138CV1209678single nucleotide variantNM_001349206.2(LPIN1):c.1358+155G>Cnot provided [RCV001588789]likely benign21178407711784077Humanname
150513689CV1211368single nucleotide variantNM_001349206.2(LPIN1):c.2249+218C>Tnot provided [RCV001598556]likely benign21180537411805374Humanname
150468853CV1218976single nucleotide variantNM_001349206.2(LPIN1):c.1264+222A>Gnot provided [RCV001614728]benign21178272911782729Humanname
150455067CV1220403single nucleotide variantNM_001349206.2(LPIN1):c.2250-272T>Cnot provided [RCV001612496]benign21181481611814816Humanname
150435456CV1221643single nucleotide variantNM_001349206.2(LPIN1):c.1358+245G>Anot provided [RCV001609331]benign21178416711784167Humanname
150453636CV1231854single nucleotide variantNM_001349206.2(LPIN1):c.1807-212G>Cnot provided [RCV001648161]benign21179519611795196Humanname
150451406CV1232796deletionNM_001349206.2(LPIN1):c.1643+231delnot provided [RCV001647871]benign21178739811787398Humanname
150437391CV1249861single nucleotide variantNM_001349206.2(LPIN1):c.2517+259A>Gnot provided [RCV001665775]benign21181985711819857Humanname
150479522CV1258267single nucleotide variantNM_001349206.2(LPIN1):c.2517+226A>Gnot provided [RCV001685686]benign21181982411819824Humanname
150441448CV1265558single nucleotide variantNM_001349206.2(LPIN1):c.2403-346A>Gnot provided [RCV001679262]benign21181913811819138Humanname
150485693CV1280814single nucleotide variantNM_001349206.2(LPIN1):c.1265-280A>Gnot provided [RCV001715648]benign21178354911783549Humanname
150495300CV1282909single nucleotide variantNM_001349206.2(LPIN1):c.2622-171A>Gnot provided [RCV001717347]benign21182446111824461Humanname
150495337CV1282915single nucleotide variantNM_001349206.2(LPIN1):c.2622-172C>Tnot provided [RCV001717353]benign21182446011824460Humanname
150512675CV1284965single nucleotide variantNM_001349206.2(LPIN1):c.2403-228C>Tnot provided [RCV001721834]benign21181925611819256Humanname
150512683CV1284966single nucleotide variantNM_001349206.2(LPIN1):c.2517+181T>Cnot provided [RCV001721835]benign21181977911819779Humanname
150512777CV1284977single nucleotide variantNM_001349206.2(LPIN1):c.1359-194T>Gnot provided [RCV001721846]benign21178469211784692Humanname
150513028CV1285028duplicationNM_001349206.2(LPIN1):c.1714-100dupnot provided [RCV001721897]benign21179180511791806Humanname
155797088CV1860142single nucleotide variantNM_001349206.2(LPIN1):c.1714-126A>GLPIN1-related disorder [RCV003933793]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002466783]likely benign|uncertain significance21179178811791788Human1name , trait , alternate_id
11652074CV284026microsatelliteNM_001349206.2(LPIN1):c.*1339ATT[1]Acute Recurrent Myoglobinuria [RCV000302915]uncertain significance21182613011826132Humanname
405283876CV3213447single nucleotide variantNM_001349206.2(LPIN1):c.1714-137G>ALPIN1-related disorder [RCV003922031]likely benign21179177711791777Humanname , trait , alternate_id
14713502CV658008single nucleotide variantNM_001349206.2(LPIN1):c.1264+273C>Tnot provided [RCV000828736]benign21178278011782780Humanname
14746495CV658010single nucleotide variantNM_001349206.2(LPIN1):c.2249+251C>Anot provided [RCV000844514]benign21180540711805407Humanname
14745247CV658015single nucleotide variantNM_001349206.2(LPIN1):c.2402+237C>Tnot provided [RCV000843247]benign21181547711815477Humanname
14738327CV658168single nucleotide variantNM_001349206.2(LPIN1):c.2014-152G>Anot provided [RCV000839348]likely benign21180427111804271Humanname
14745236CV658183single nucleotide variantNM_001349206.2(LPIN1):c.1549+133A>Gnot provided [RCV000843241]benign21178520911785209Humanname
14745243CV658186single nucleotide variantNM_001349206.2(LPIN1):c.1806+203T>Cnot provided [RCV000843245]benign21179220911792209Humanname
150510392CV1211634microsatelliteNM_001349206.2(LPIN1):c.723-156TA[2]not provided [RCV001597426]benign21177593011775933Humanname
8558354CV19952deletionNM_145693.2(LPIN1):c.2295-?_2513+?delMyoglobinuria, acute recurrent, autosomal recessive [RCV000005195]pathogenic21181948311820515Human1name
150421067CV1192926microsatelliteNM_001349206.2(LPIN1):c.1714-269TTG[4]not provided [RCV001570388]likely benign21179164511791647Humanname
155732639CV1781043microsatelliteNM_001349206.2(LPIN1):c.957+6_957+7delnot provided [RCV002308831]uncertain significance21177964811779649Humanname
405238661CV2881421single nucleotide variantNM_001349206.2(LPIN1):c.9C>T (p.Tyr3=)Myoglobinuria, acute recurrent, autosomal recessive [RCV005014749]|not provided [RCV003556812]likely benign|uncertain significance21176555011765550Human1name
405289198CV3204970deletionNM_001349206.2(LPIN1):c.597-9_597-8delLPIN1-related disorder [RCV003961602]likely benign21177360211773603Humanname , trait , alternate_id
597925275CV3840530microsatelliteNM_001349206.2(LPIN1):c.289-7_289-3delnot provided [RCV005185001]uncertain significance21177136011771364Humanname
151838235CV1382721deletionNM_001349206.2(LPIN1):c.2401_2402+22delnot provided [RCV002031515]likely pathogenic21181523111815254Humanname
28878468CV880920single nucleotide variantNM_001349206.2(LPIN1):c.24C>T (p.Ala8=)Myoglobinuria, acute recurrent, autosomal recessive [RCV001135184]|not provided [RCV003558700]likely benign|uncertain significance21176556511765565Human1name
150332149CV1168858single nucleotide variantNM_001261428.3(LPIN1):c.45G>A (p.Ser15=)LPIN1-related disorder [RCV003921196]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002495865]|not provided [RCV001536772]benign|likely benign21167769211677692Human1name , trait , alternate_id
156187110CV1919328duplicationNM_001349206.2(LPIN1):c.289-13_289-11dupnot provided [RCV002595252]likely benign21177135711771358Humanname
156347930CV2005321single nucleotide variantNM_001349206.2(LPIN1):c.48G>A (p.Lys16=)not provided [RCV002650672]likely benign21176558911765589Humanname
11581279CV283743single nucleotide variantNM_001349206.2(LPIN1):c.72C>T (p.Pro24=)LPIN1-related disorder [RCV003957701]|Myoglobinuria, acute recurrent, autosomal recessive [RCV000363608]|not provided [RCV002057559]likely benign|uncertain significance21176561311765613Human1name , trait , alternate_id
405136459CV2958069single nucleotide variantNM_001349206.2(LPIN1):c.42C>A (p.Thr14=)not provided [RCV003672790]likely benign21176558311765583Humanname
597843855CV3736047single nucleotide variantNM_001349206.2(LPIN1):c.96C>T (p.Asp32=)not provided [RCV005065395]likely benign21176563711765637Humanname
597927564CV3819869single nucleotide variantNM_001349206.2(LPIN1):c.63G>A (p.Gly21=)not provided [RCV005156569]likely benign21176560411765604Humanname
28878474CV880921single nucleotide variantNM_001349206.2(LPIN1):c.42C>T (p.Thr14=)Myoglobinuria, acute recurrent, autosomal recessive [RCV001135185]|not provided [RCV002070578]likely benign|uncertain significance21176558311765583Human1name
152140156CV1624141insertionNM_001349206.2(LPIN1):c.597-19_597-18insAnot provided [RCV002138074]likely benign21177360111773602Humanname
156169960CV1930142single nucleotide variantNM_001349206.2(LPIN1):c.10G>A (p.Val4Met)Inborn genetic diseases [RCV004070782]|not provided [RCV002624673]uncertain significance21176555111765551Human1name
11578146CV283754single nucleotide variantNM_001349206.2(LPIN1):c.138C>G (p.Ser46=)Myoglobinuria, acute recurrent, autosomal recessive [RCV000275107]|not provided [RCV002057560]benign|uncertain significance21176567911765679Human1name
405272373CV3195391single nucleotide variantNM_001261428.3(LPIN1):c.22C>T (p.Arg8Cys)LPIN1-related disorder [RCV003904179]likely benign21167766911677669Humanname , trait , alternate_id
597752150CV3706008single nucleotide variantNM_001349206.2(LPIN1):c.288G>A (p.Gln96=)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016022]likely pathogenic21176785811767858Human1name
597970009CV3791769single nucleotide variantNM_001349206.2(LPIN1):c.147C>T (p.His49=)not provided [RCV005141586]likely benign21176568811765688Humanname
8625112CV80231single nucleotide variantNM_145693.2(LPIN1):c.620C>T (p.Pro207Leu)Malignant melanoma [RCV000060307]not provided21177364311773643Humanname
8643408CV102391single nucleotide variantNM_001349206.2(LPIN1):c.552C>T (p.Ile184=)Myoglobinuria, acute recurrent, autosomal recessive [RCV000260825]|not provided [RCV002055230]|not specified [RCV000082649]benign|likely benign21177163511771635Human1name
150471005CV1269980microsatelliteNM_001349206.2(LPIN1):c.957+256_957+257delnot provided [RCV001695267]benign21177989911779900Humanname
150548956CV1294609single nucleotide variantNM_001349206.2(LPIN1):c.928C>T (p.Leu310=)not provided [RCV001752101]conflicting interpretations of pathogenicity|uncertain significance21177961611779616Humanname
151821260CV1378539single nucleotide variantNM_001349206.2(LPIN1):c.696G>A (p.Ser232=)not provided [RCV002029914]likely benign|uncertain significance21177371911773719Humanname
151882885CV1443325single nucleotide variantNM_001349206.2(LPIN1):c.73G>A (p.Ala25Thr)Myoglobinuria, acute recurrent, autosomal recessive [RCV002489907]|not provided [RCV002037233]uncertain significance21176561411765614Human1name
152108641CV1520071single nucleotide variantNM_001349206.2(LPIN1):c.570G>A (p.Glu190=)not provided [RCV002134194]likely benign21177165311771653Humanname
152128277CV1583733single nucleotide variantNM_001349206.2(LPIN1):c.342G>A (p.Ser114=)not provided [RCV002198978]likely benign21177142511771425Humanname
152121463CV1613202single nucleotide variantNM_001349206.2(LPIN1):c.990C>T (p.Ser330=)LPIN1-related disorder [RCV003923798]|not provided [RCV002154317]likely benign21178223311782233Human1name , trait , alternate_id
152101855CV1667150single nucleotide variantNM_001349206.2(LPIN1):c.564G>C (p.Ser188=)not provided [RCV002214136]likely benign21177164711771647Humanname
155959155CV1873613single nucleotide variantNM_001349206.2(LPIN1):c.321C>A (p.Pro107=)not provided [RCV003074594]likely benign21177140411771404Humanname
156275553CV1880590single nucleotide variantNM_001349206.2(LPIN1):c.490C>T (p.Leu164=)not provided [RCV003060877]likely benign21177157311771573Humanname
156042314CV1887205single nucleotide variantNM_001349206.2(LPIN1):c.930G>A (p.Leu310=)not provided [RCV003078563]likely benign21177961811779618Humanname
156310371CV1925110single nucleotide variantNM_001349206.2(LPIN1):c.438G>T (p.Pro146=)LPIN1-related disorder [RCV003963720]|not provided [RCV002629728]likely benign21177152111771521Human1name , trait , alternate_id
156444001CV1937600single nucleotide variantNM_001349206.2(LPIN1):c.837C>T (p.Ser279=)not provided [RCV003114916]likely benign21177952511779525Humanname
156444270CV1937797single nucleotide variantNM_001349206.2(LPIN1):c.453A>G (p.Val151=)not provided [RCV003115193]likely benign21177153611771536Humanname
156445546CV1943337single nucleotide variantNM_001349206.2(LPIN1):c.315C>T (p.Thr105=)not provided [RCV003116492]likely benign21177139811771398Humanname
156338990CV1984687single nucleotide variantNM_001349206.2(LPIN1):c.312C>T (p.Ala104=)not provided [RCV002631330]likely benign21177139511771395Humanname
156012904CV1986086microsatelliteNM_001349206.2(LPIN1):c.1807-17_1807-14delnot provided [RCV002636316]likely benign21179538611795389Humanname
155947753CV2029064single nucleotide variantNM_001349206.2(LPIN1):c.495C>T (p.Asp165=)not provided [RCV002730505]likely benign21177157811771578Humanname
155978279CV2073214single nucleotide variantNM_001349206.2(LPIN1):c.606T>C (p.Pro202=)not provided [RCV002842394]likely benign21177362911773629Humanname
155953628CV2073368single nucleotide variantNM_001349206.2(LPIN1):c.423T>A (p.Ala141=)not provided [RCV002816402]likely benign21177150611771506Humanname
155989018CV2101901single nucleotide variantNM_001349206.2(LPIN1):c.618T>A (p.Pro206=)not provided [RCV002908066]likely benign21177364111773641Humanname
156172666CV2133641single nucleotide variantNM_001349206.2(LPIN1):c.43G>A (p.Val15Met)not provided [RCV003005437]uncertain significance21176558411765584Humanname
156023271CV2139004single nucleotide variantNM_001349206.2(LPIN1):c.405G>A (p.Thr135=)not provided [RCV002998785]likely benign21177148811771488Humanname
156128997CV2155615duplicationNM_001349206.2(LPIN1):c.264dup (p.Val89fs)not provided [RCV003003281]pathogenic21176782811767829Humanname
155997318CV2168789single nucleotide variantNM_001349206.2(LPIN1):c.561C>T (p.Ser187=)not provided [RCV003017113]likely benign21177164411771644Humanname
156108218CV2304177single nucleotide variantNM_001349206.2(LPIN1):c.91A>T (p.Ile31Phe)Inborn genetic diseases [RCV002889050]uncertain significance21176563211765632Human1name
11543070CV250096single nucleotide variantNM_001349206.2(LPIN1):c.420C>T (p.Ile140=)Myoglobinuria, acute recurrent, autosomal recessive [RCV000318540]|not provided [RCV000974708]|not specified [RCV000241969]benign|likely benign21177150311771503Human1name
11550566CV250097single nucleotide variantNM_001349206.2(LPIN1):c.657G>A (p.Leu219=)Myoglobinuria, acute recurrent, autosomal recessive [RCV000283013]|not provided [RCV002058415]|not specified [RCV000251924]benign|likely benign21177368011773680Human1name
11543456CV250098single nucleotide variantNM_001349206.2(LPIN1):c.696G>C (p.Ser232=)Myoglobinuria, acute recurrent, autosomal recessive [RCV001130855]|not provided [RCV000954228]|not specified [RCV000242480]benign|likely benign|conflicting interpretations of pathogenicity21177371911773719Human1name
401929352CV2815548single nucleotide variantNM_001349206.2(LPIN1):c.501G>A (p.Leu167=)not provided [RCV003407164]likely benign21177158411771584Humanname
11581041CV281682single nucleotide variantNM_001349206.2(LPIN1):c.429C>T (p.Ser143=)Myoglobinuria, acute recurrent, autosomal recessive [RCV000353411]|not provided [RCV002057561]likely benign|uncertain significance21177151211771512Human1name
11582219CV281686single nucleotide variantNM_001349206.2(LPIN1):c.966T>C (p.Ser322=)Myoglobinuria, acute recurrent, autosomal recessive [RCV000402688]|not provided [RCV002521268]likely benign|uncertain significance21178220911782209Human1name
402518760CV2870911single nucleotide variantNM_001349206.2(LPIN1):c.972C>T (p.His324=)not provided [RCV003547598]likely benign21178221511782215Humanname
405191735CV2875808single nucleotide variantNM_001349206.2(LPIN1):c.720C>T (p.Pro240=)not provided [RCV003550424]likely benign21177374311773743Humanname
402504837CV2880144single nucleotide variantNM_001349206.2(LPIN1):c.342G>C (p.Ser114=)not provided [RCV003546263]likely benign21177142511771425Humanname
402512281CV2948452single nucleotide variantNM_001349206.2(LPIN1):c.582G>T (p.Leu194=)not provided [RCV003662665]likely benign21177166511771665Humanname
405129933CV2953604single nucleotide variantNM_001349206.2(LPIN1):c.321C>G (p.Pro107=)not provided [RCV003672318]likely benign21177140411771404Humanname
404999123CV3008964single nucleotide variantNM_001349206.2(LPIN1):c.852A>G (p.Ser284=)not provided [RCV003692998]likely benign21177954011779540Humanname
405145950CV3067134single nucleotide variantNM_001349206.2(LPIN1):c.483G>A (p.Lys161=)not provided [RCV003726060]likely benign21177156611771566Humanname
405193600CV3167579single nucleotide variantNM_001349206.2(LPIN1):c.435G>A (p.Thr145=)not provided [RCV003859985]likely benign21177151811771518Humanname
405815576CV3284188single nucleotide variantNM_001349206.2(LPIN1):c.73G>C (p.Ala25Pro)Inborn genetic diseases [RCV004410585]uncertain significance21176561411765614Human1name
597752116CV3706001single nucleotide variantNM_001349206.2(LPIN1):c.80T>G (p.Leu27Arg)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016015]uncertain significance21176562111765621Human1name
597965448CV3751148single nucleotide variantNM_001349206.2(LPIN1):c.996G>A (p.Leu332=)not provided [RCV005082710]likely benign21178223911782239Humanname
597937476CV3759947single nucleotide variantNM_001349206.2(LPIN1):c.324C>T (p.Ile108=)not provided [RCV005076869]likely benign21177140711771407Humanname
597871425CV3806004single nucleotide variantNM_001349206.2(LPIN1):c.645A>G (p.Glu215=)not provided [RCV005148414]likely benign21177366811773668Humanname
597964065CV3830378single nucleotide variantNM_001349206.2(LPIN1):c.420C>A (p.Ile140=)not provided [RCV005164518]likely benign21177150311771503Humanname
597932582CV3838054single nucleotide variantNM_001349206.2(LPIN1):c.639T>G (p.Pro213=)not provided [RCV005186023]likely benign21177366211773662Humanname
597862732CV3860595single nucleotide variantNM_001349206.2(LPIN1):c.369C>A (p.Gly123=)not provided [RCV005196123]likely benign21177145211771452Humanname
15176906CV707684single nucleotide variantNM_001349206.2(LPIN1):c.564G>A (p.Ser188=)Myoglobinuria, acute recurrent, autosomal recessive [RCV002479139]|not provided [RCV000973298]likely benign21177164711771647Human1name
15128792CV780816single nucleotide variantNM_001349206.2(LPIN1):c.945G>T (p.Pro315=)Myoglobinuria, acute recurrent, autosomal recessive [RCV002489444]|not provided [RCV000980773]likely benign21177963311779633Human1name
28868691CV880923single nucleotide variantNM_001349206.2(LPIN1):c.309G>T (p.Leu103=)LPIN1-related disorder [RCV003938483]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001130147]|not provided [RCV002556829]benign|likely benign|uncertain significance21177139211771392Human1name , trait , alternate_id
28868695CV880924single nucleotide variantNM_001349206.2(LPIN1):c.438G>A (p.Pro146=)Myoglobinuria, acute recurrent, autosomal recessive [RCV001130148]|not provided [RCV002558272]likely benign|uncertain significance21177152111771521Human1name
28869828CV880927single nucleotide variantNM_001349206.2(LPIN1):c.879C>G (p.Val293=)LPIN1-related disorder [RCV003906245]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001130857]|not provided [RCV003565464]likely benign|uncertain significance21177956711779567Human1name , trait , alternate_id
150406833CV1192924single nucleotide variantNM_001349206.2(LPIN1):c.181C>T (p.Arg61Ter)Myoglobinuria, acute recurrent, autosomal recessive [RCV005014593]|not provided [RCV001572147]pathogenic21176572211765722Human1name
151352941CV1326349single nucleotide variantNM_001349206.2(LPIN1):c.1149C>T (p.Asp383=)not provided [RCV001815876]likely benign21178239211782392Humanname
151876574CV1360271single nucleotide variantNM_001349206.2(LPIN1):c.245A>G (p.Asp82Gly)Inborn genetic diseases [RCV004039747]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002478141]|not provided [RCV001907140]uncertain significance21176781511767815Human2name
151791780CV1422802single nucleotide variantNM_001349206.2(LPIN1):c.110G>C (p.Arg37Pro)not provided [RCV001916890]uncertain significance21176565111765651Humanname
152044213CV1534407single nucleotide variantNM_001349206.2(LPIN1):c.1923C>T (p.Arg641=)Myoglobinuria, acute recurrent, autosomal recessive [RCV002507946]|not provided [RCV002088351]likely benign21180294311802943Human1name
152116232CV1540943single nucleotide variantNM_001349206.2(LPIN1):c.2364G>T (p.Leu788=)not provided [RCV002197430]likely benign21181520211815202Humanname
152090650CV1594132single nucleotide variantNM_001349206.2(LPIN1):c.1776A>C (p.Ser592=)not provided [RCV002171778]likely benign21179197611791976Humanname
152097758CV1600018single nucleotide variantNM_001349206.2(LPIN1):c.2331C>T (p.Asn777=)Myoglobinuria, acute recurrent, autosomal recessive [RCV002500317]|not provided [RCV002151415]likely benign21181516911815169Human1name
152045908CV1600236single nucleotide variantNM_001349206.2(LPIN1):c.1866G>A (p.Pro622=)not provided [RCV002088544]likely benign21179546711795467Humanname
152164782CV1611151single nucleotide variantNM_001349206.2(LPIN1):c.2766T>C (p.His922=)not provided [RCV002141592]likely benign21182477611824776Humanname
152049254CV1615111single nucleotide variantNM_001349206.2(LPIN1):c.1821G>A (p.Glu607=)not provided [RCV002088938]likely benign21179542211795422Humanname
152027066CV1626749single nucleotide variantNM_001349206.2(LPIN1):c.2229G>A (p.Lys743=)Myoglobinuria, acute recurrent, autosomal recessive [RCV002494088]|not provided [RCV002185369]likely benign21180513611805136Human1name
152170417CV1651076single nucleotide variantNM_001349206.2(LPIN1):c.1545G>T (p.Thr515=)not provided [RCV002143110]likely benign21178507211785072Humanname
152100105CV1655327single nucleotide variantNM_001349206.2(LPIN1):c.1314C>T (p.Leu438=)not provided [RCV002115217]benign21178387811783878Humanname
156159512CV1872198single nucleotide variantNM_001349206.2(LPIN1):c.1086C>T (p.Val362=)not provided [RCV003056840]likely benign21178232911782329Humanname
156396299CV1877315single nucleotide variantNM_001349206.2(LPIN1):c.2358G>A (p.Gly786=)not provided [RCV003068634]likely benign21181519611815196Humanname
156403717CV1886371single nucleotide variantNM_001349206.2(LPIN1):c.2652C>T (p.His884=)LPIN1-related disorder [RCV003898775]|not provided [RCV003069534]likely benign21182466211824662Human1name , trait , alternate_id
156388098CV1888253single nucleotide variantNM_001349206.2(LPIN1):c.2298G>A (p.Ala766=)not provided [RCV003067731]likely benign21181513611815136Humanname
156400622CV1888983single nucleotide variantNM_001349206.2(LPIN1):c.148G>A (p.Val50Ile)LPIN1-related disorder [RCV003898759]|not provided [RCV003069098]uncertain significance21176568911765689Human1name , trait , alternate_id
156376926CV1896196single nucleotide variantNM_001349206.2(LPIN1):c.1944C>T (p.Asn648=)not provided [RCV003092951]likely benign21180296411802964Humanname
156368522CV1909604single nucleotide variantNM_001349206.2(LPIN1):c.1876T>C (p.Leu626=)not provided [RCV002602998]likely benign21179547711795477Humanname
156417657CV1909938single nucleotide variantNM_001349206.2(LPIN1):c.1791C>T (p.Asn597=)not provided [RCV002610835]likely benign21179199111791991Humanname
156277336CV1911947single nucleotide variantNM_001349206.2(LPIN1):c.1860A>G (p.Gln620=)not provided [RCV002628310]likely benign21179546111795461Humanname
156418898CV1918936single nucleotide variantNM_001349206.2(LPIN1):c.1899A>G (p.Glu633=)not provided [RCV002612109]likely benign21180291911802919Humanname
156153282CV1926012single nucleotide variantNM_001349206.2(LPIN1):c.1608C>T (p.Ile536=)not provided [RCV002624083]likely benign21178713211787132Humanname
156053543CV1928590single nucleotide variantNM_001349206.2(LPIN1):c.2307G>A (p.Thr769=)not provided [RCV002620690]likely benign21181514511815145Humanname
156375777CV1930458single nucleotide variantNM_001349206.2(LPIN1):c.1443G>T (p.Ser481=)not provided [RCV002633820]likely benign21178497011784970Humanname
156299743CV1933403single nucleotide variantNM_001349206.2(LPIN1):c.1338G>A (p.Ala446=)not provided [RCV002629187]likely benign21178390211783902Humanname
156444405CV1944718single nucleotide variantNM_001349206.2(LPIN1):c.2067G>A (p.Thr689=)not provided [RCV003115329]likely benign21180447611804476Humanname
156229487CV1959078single nucleotide variantNM_001349206.2(LPIN1):c.1881C>G (p.Ala627=)not provided [RCV002596754]likely benign21179548211795482Humanname
156406232CV1963529single nucleotide variantNM_001349206.2(LPIN1):c.2064C>G (p.Thr688=)not provided [RCV002585835]likely benign21180447311804473Humanname
156124186CV1969320single nucleotide variantNM_001349206.2(LPIN1):c.2718C>T (p.Phe906=)not provided [RCV002593243]likely benign21182472811824728Humanname
156068865CV1971992single nucleotide variantNM_001349206.2(LPIN1):c.1150C>T (p.Leu384=)not provided [RCV002621184]likely benign21178239311782393Humanname
155901527CV1975676single nucleotide variantNM_001349206.2(LPIN1):c.2205T>C (p.Asp735=)not provided [RCV002613418]likely benign21180511211805112Humanname
155984655CV1979531single nucleotide variantNM_001349206.2(LPIN1):c.2317C>T (p.Leu773=)not provided [RCV002617755]likely benign21181515511815155Humanname
156237273CV1992397single nucleotide variantNM_001349206.2(LPIN1):c.2628G>A (p.Val876=)not provided [RCV002627012]likely benign21182463811824638Humanname
155945180CV1999354single nucleotide variantNM_001349206.2(LPIN1):c.265G>C (p.Val89Leu)Myoglobinuria, acute recurrent, autosomal recessive [RCV005019322]|not provided [RCV002685702]uncertain significance21176783511767835Human1name
155904970CV2007281single nucleotide variantNM_001349206.2(LPIN1):c.199A>G (p.Ile67Val)Myoglobinuria, acute recurrent, autosomal recessive [RCV005019325]|not provided [RCV002681338]uncertain significance21176776911767769Human1name
156003135CV2014854single nucleotide variantNM_001349206.2(LPIN1):c.1527C>T (p.Ser509=)not provided [RCV002690150]likely benign21178505411785054Humanname
156374592CV2024558single nucleotide variantNM_001349206.2(LPIN1):c.2362C>T (p.Leu788=)not provided [RCV002721808]likely benign21181520011815200Humanname
155949868CV2026141single nucleotide variantNM_001349206.2(LPIN1):c.1371C>T (p.Ser457=)not provided [RCV002730622]likely benign21178489811784898Humanname
155920847CV2027424single nucleotide variantNM_001349206.2(LPIN1):c.1398C>T (p.Asn466=)not provided [RCV002750708]likely benign21178492511784925Humanname
156159038CV2033724single nucleotide variantNM_001349206.2(LPIN1):c.2133C>A (p.Ile711=)not provided [RCV002741477]likely benign21180454211804542Humanname
156251124CV2041058single nucleotide variantNM_001349206.2(LPIN1):c.2487C>T (p.Pro829=)not provided [RCV002806013]likely benign21181956811819568Humanname
156023485CV2079267single nucleotide variantNM_001349206.2(LPIN1):c.2733G>A (p.Glu911=)not provided [RCV002885068]likely benign21182474311824743Humanname
155900926CV2087624single nucleotide variantNM_001349206.2(LPIN1):c.1638G>A (p.Gly546=)not provided [RCV002857849]likely benign21178716211787162Humanname
156333301CV2091120single nucleotide variantNM_001349206.2(LPIN1):c.2223C>T (p.Ile741=)LPIN1-related disorder [RCV003961156]|Myoglobinuria, acute recurrent, autosomal recessive [RCV003147794]|not provided [RCV002900062]likely benign|uncertain significance21180513011805130Human1name , trait , alternate_id
156107331CV2096485single nucleotide variantNM_001349206.2(LPIN1):c.1863G>A (p.Pro621=)not provided [RCV002913634]likely benign21179546411795464Humanname
156304985CV2105198single nucleotide variantNM_001349206.2(LPIN1):c.2700G>A (p.Ser900=)not provided [RCV002922773]likely benign21182471011824710Humanname
156298803CV2108695single nucleotide variantNM_001349206.2(LPIN1):c.2349G>C (p.Leu783=)not provided [RCV002922472]likely benign21181518711815187Humanname
156322500CV2112152single nucleotide variantNM_001349206.2(LPIN1):c.176G>A (p.Arg59His)Myoglobinuria, acute recurrent, autosomal recessive [RCV004782974]|not provided [RCV002937856]uncertain significance21176571711765717Human1name
156393725CV2120585single nucleotide variantNM_001349206.2(LPIN1):c.2124T>C (p.Asp708=)not provided [RCV002944190]likely benign21180453311804533Humanname
156111199CV2121167single nucleotide variantNM_001349206.2(LPIN1):c.2292G>A (p.Gly764=)not provided [RCV002953122]likely benign21181513011815130Humanname
156376999CV2124235single nucleotide variantNM_001349206.2(LPIN1):c.2382C>T (p.Ser794=)LPIN1-related disorder [RCV003926571]|not provided [RCV002942810]likely benign21181522011815220Human1name , trait , alternate_id
156386524CV2125571single nucleotide variantNM_001349206.2(LPIN1):c.151C>T (p.Arg51Cys)not provided [RCV002943527]uncertain significance21176569211765692Humanname
156364599CV2130512single nucleotide variantNM_001349206.2(LPIN1):c.1218T>C (p.Ser406=)not provided [RCV002967208]likely benign21178246111782461Humanname
155938658CV2135228single nucleotide variantNM_001349206.2(LPIN1):c.2217G>A (p.Gln739=)not provided [RCV002993904]likely benign21180512411805124Humanname
156318297CV2137874single nucleotide variantNM_001349206.2(LPIN1):c.1545G>C (p.Thr515=)not provided [RCV002963034]likely benign21178507211785072Humanname
156286322CV2192038single nucleotide variantNM_001349206.2(LPIN1):c.2139T>G (p.Ser713=)not provided [RCV003044958]likely benign21180454811804548Humanname
156280779CV2295059single nucleotide variantNM_001349206.2(LPIN1):c.182G>A (p.Arg61Gln)Inborn genetic diseases [RCV002896501]|not provided [RCV005059350]uncertain significance21176572311765723Human1name
11542988CV250108single nucleotide variantNM_001349206.2(LPIN1):c.2358G>C (p.Gly786=)Myoglobinuria, acute recurrent, autosomal recessive [RCV000324516]|not provided [RCV002058414]|not specified [RCV000241861]benign|likely benign21181519611815196Human1name
11545352CV250109single nucleotide variantNM_001349206.2(LPIN1):c.2595G>A (p.Gln865=)LPIN1-related disorder [RCV003891988]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002494773]|not provided [RCV000958557]benign|likely benign21182048811820488Human1name , trait , alternate_id
11582070CV281692single nucleotide variantNM_001349206.2(LPIN1):c.1293C>T (p.Asp431=)Myoglobinuria, acute recurrent, autosomal recessive [RCV000396641]|not provided [RCV002057562]likely benign|uncertain significance21178385711783857Human1name
11579870CV282338single nucleotide variantNM_001349206.2(LPIN1):c.119A>G (p.Asn40Ser)Inborn genetic diseases [RCV003168497]|Myoglobinuria, acute recurrent, autosomal recessive [RCV000315110]|not provided [RCV001859958]uncertain significance21176566011765660Human2name
11577718CV282342single nucleotide variantNM_001349206.2(LPIN1):c.2661G>A (p.Pro887=)Myoglobinuria, acute recurrent, autosomal recessive [RCV000265840]|not provided [RCV000884357]likely benign|uncertain significance21182467111824671Human1name
11578211CV283748single nucleotide variantNM_001349206.2(LPIN1):c.110G>A (p.Arg37His)Myoglobinuria, acute recurrent, autosomal recessive [RCV000276432]|not provided [RCV002521267]uncertain significance21176565111765651Human1name
11660489CV283750single nucleotide variantNM_001349206.2(LPIN1):c.124A>G (p.Asn42Asp)Myoglobinuria, acute recurrent, autosomal recessive [RCV000367401]|not provided [RCV005090515]uncertain significance21176566511765665Human1name
11579052CV283761single nucleotide variantNM_001349206.2(LPIN1):c.1083G>A (p.Leu361=)LPIN1-related disorder [RCV003912387]|Myoglobinuria, acute recurrent, autosomal recessive [RCV000294503]|not provided [RCV002521269]likely benign|uncertain significance21178232611782326Human1name , trait , alternate_id
11579763CV284010single nucleotide variantNM_001349206.2(LPIN1):c.1374A>C (p.Gly458=)Myoglobinuria, acute recurrent, autosomal recessive [RCV000312249]|not provided [RCV001859960]likely benign|uncertain significance21178490111784901Human1name
401943966CV2840319single nucleotide variantNM_001349206.2(LPIN1):c.2037C>T (p.Gly679=)not provided [RCV003457054]likely benign21180444611804446Humanname
405095762CV2874954single nucleotide variantNM_001349206.2(LPIN1):c.1404C>T (p.Ala468=)not provided [RCV003550251]likely benign21178493111784931Humanname
405214746CV2875980single nucleotide variantNM_001349206.2(LPIN1):c.1851C>T (p.Thr617=)not provided [RCV003553070]likely benign21179545211795452Humanname
405071777CV2876600single nucleotide variantNM_001349206.2(LPIN1):c.1296C>T (p.Gly432=)not provided [RCV003548575]likely benign21178386011783860Humanname
405126844CV2882935single nucleotide variantNM_001349206.2(LPIN1):c.1191C>T (p.Ile397=)not provided [RCV003559650]likely benign21178243411782434Humanname
405150338CV2888392single nucleotide variantNM_001349206.2(LPIN1):c.2004C>T (p.Ser668=)not provided [RCV003561686]likely benign21180302411803024Humanname
405151995CV2888433single nucleotide variantNM_001349206.2(LPIN1):c.2568C>T (p.Thr856=)LPIN1-related disorder [RCV003946706]|not provided [RCV003561707]likely benign21182046111820461Human1name , trait , alternate_id
405150649CV2888437single nucleotide variantNM_001349206.2(LPIN1):c.1119G>A (p.Gln373=)not provided [RCV003561708]likely benign21178236211782362Humanname
405012001CV2933855single nucleotide variantNM_001349206.2(LPIN1):c.2160C>T (p.Thr720=)not provided [RCV003576812]likely benign21180456911804569Humanname
405180854CV2956099single nucleotide variantNM_001349206.2(LPIN1):c.2721C>G (p.Thr907=)not provided [RCV003676122]likely benign21182473111824731Humanname
405151499CV2956986single nucleotide variantNM_001349206.2(LPIN1):c.1842C>G (p.Ala614=)not provided [RCV003670014]likely benign21179544311795443Humanname
405140370CV2961955single nucleotide variantNM_001349206.2(LPIN1):c.1884C>G (p.Thr628=)not provided [RCV003673172]likely benign21179548511795485Humanname
405194067CV2975211single nucleotide variantNM_001349206.2(LPIN1):c.2430G>A (p.Lys810=)not provided [RCV003677477]likely benign21181951111819511Humanname
405222970CV3038738single nucleotide variantNM_001349206.2(LPIN1):c.2193C>G (p.Thr731=)not provided [RCV003710154]likely benign21180510011805100Humanname
405142236CV3046114single nucleotide variantNM_001349206.2(LPIN1):c.2199G>A (p.Gly733=)not provided [RCV003725689]likely benign21180510611805106Humanname
405177320CV3049598single nucleotide variantNM_001349206.2(LPIN1):c.2277T>C (p.Ser759=)not provided [RCV003728456]likely benign21181511511815115Humanname
405251488CV3050000single nucleotide variantNM_001349206.2(LPIN1):c.2646C>T (p.Val882=)LPIN1-related disorder [RCV003948950]|not provided [RCV003721920]likely benign21182465611824656Human1name , trait , alternate_id
405215646CV3066619single nucleotide variantNM_001349206.2(LPIN1):c.1950C>T (p.Gly650=)not provided [RCV003732524]likely benign21180297011802970Humanname
405227134CV3069491single nucleotide variantNM_001349206.2(LPIN1):c.2538A>G (p.Gln846=)not provided [RCV003734246]uncertain significance21182043111820431Humanname
405026294CV3073290single nucleotide variantNM_001349206.2(LPIN1):c.1599C>T (p.Pro533=)not provided [RCV003738738]likely benign21178712311787123Humanname
405031547CV3077632single nucleotide variantNM_001349206.2(LPIN1):c.1116T>G (p.Pro372=)not provided [RCV003739187]likely benign21178235911782359Humanname
405216642CV3124632single nucleotide variantNM_001349206.2(LPIN1):c.1173G>A (p.Ala391=)not provided [RCV003823994]likely benign21178241611782416Humanname
405228220CV3153300single nucleotide variantNM_001349206.2(LPIN1):c.1815G>A (p.Lys605=)not provided [RCV003848363]likely benign21179541611795416Humanname
405184033CV3155975single nucleotide variantNM_001349206.2(LPIN1):c.1443G>A (p.Ser481=)not provided [RCV003859049]likely benign21178497011784970Humanname
405182580CV3159558single nucleotide variantNM_001349206.2(LPIN1):c.1071A>G (p.Gln357=)not provided [RCV003858808]likely benign21178231411782314Humanname
405238412CV3165432single nucleotide variantNM_001349206.2(LPIN1):c.2439C>T (p.Val813=)not provided [RCV003866634]likely benign21181952011819520Humanname
405205180CV3165578deletionNM_001349206.2(LPIN1):c.835del (p.Ser279fs)Myoglobinuria, acute recurrent, autosomal recessive [RCV005015057]|not provided [RCV003861244]pathogenic|likely pathogenic21177952211779522Human1name
402500064CV3170481single nucleotide variantNM_001349206.2(LPIN1):c.2691T>C (p.Phe897=)not provided [RCV003877853]likely benign21182470111824701Humanname
402507491CV3181576single nucleotide variantNM_001349206.2(LPIN1):c.1074G>A (p.Ser358=)LPIN1-related disorder [RCV003893555]|not provided [RCV003878410]likely benign21178231711782317Human1name , trait , alternate_id
402489846CV3182342single nucleotide variantNM_001349206.2(LPIN1):c.1503C>T (p.Ala501=)not provided [RCV003876828]likely benign21178503011785030Humanname
405698283CV3226961single nucleotide variantNM_001349206.2(LPIN1):c.1833T>C (p.Ala611=)not provided [RCV003993355]likely benign21179543411795434Humanname
407471502CV3445960single nucleotide variantNM_001349206.2(LPIN1):c.109C>T (p.Arg37Cys)Inborn genetic diseases [RCV004637417]uncertain significance21176565011765650Human1name
597752126CV3706002single nucleotide variantNM_001349206.2(LPIN1):c.125A>G (p.Asn42Ser)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016017]uncertain significance21176566611765666Human1name
597752131CV3706003single nucleotide variantNM_001349206.2(LPIN1):c.137C>T (p.Ser46Phe)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016018]uncertain significance21176567811765678Human1name
597752134CV3706004single nucleotide variantNM_001349206.2(LPIN1):c.214G>A (p.Glu72Lys)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016019]uncertain significance21176778411767784Human1name
597663584CV3706005single nucleotide variantNM_001349206.2(LPIN1):c.232A>T (p.Met78Leu)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028781]uncertain significance21176780211767802Human1name
597663594CV3706006single nucleotide variantNM_001349206.2(LPIN1):c.281A>G (p.Asn94Ser)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028782]uncertain significance21176785111767851Human1name
597752160CV3706010deletionNM_001349206.2(LPIN1):c.472del (p.Arg158fs)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016024]likely pathogenic21177155111771551Human1name
597752230CV3706034single nucleotide variantNM_001349206.2(LPIN1):c.1479G>T (p.Gly493=)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016038]uncertain significance21178500611785006Human1name
597830760CV3743300single nucleotide variantNM_001349206.2(LPIN1):c.2547G>A (p.Val849=)not provided [RCV005062308]likely benign21182044011820440Humanname
597860495CV3748681single nucleotide variantNM_001349206.2(LPIN1):c.1623C>T (p.Leu541=)not provided [RCV005067313]likely benign21178714711787147Humanname
597868740CV3749703single nucleotide variantNM_001349206.2(LPIN1):c.2427A>G (p.Glu809=)not provided [RCV005068384]likely benign21181950811819508Humanname
597871654CV3750051single nucleotide variantNM_001349206.2(LPIN1):c.2370G>A (p.Leu790=)not provided [RCV005068732]likely benign21181520811815208Humanname
597935401CV3759418single nucleotide variantNM_001349206.2(LPIN1):c.2064C>T (p.Thr688=)not provided [RCV005076538]likely benign21180447311804473Humanname
597907381CV3773207single nucleotide variantNM_001349206.2(LPIN1):c.1845T>C (p.His615=)not provided [RCV005113272]likely benign21179544611795446Humanname
597909062CV3781729single nucleotide variantNM_001349206.2(LPIN1):c.2664G>A (p.Leu888=)not provided [RCV005128417]likely benign21182467411824674Humanname
597868299CV3787340single nucleotide variantNM_001349206.2(LPIN1):c.1050T>C (p.Ser350=)not provided [RCV005122225]likely benign21178229311782293Humanname
597974274CV3821064single nucleotide variantNM_001349206.2(LPIN1):c.2748T>C (p.Phe916=)not provided [RCV005168385]likely benign21182475811824758Humanname
597865005CV3823254single nucleotide variantNM_001349206.2(LPIN1):c.2097C>T (p.Gly699=)not provided [RCV005175604]likely benign21180450611804506Humanname
597831969CV3830873single nucleotide variantNM_001349206.2(LPIN1):c.2230C>T (p.Leu744=)not provided [RCV005170271]likely benign21180513711805137Humanname
597887362CV3839052single nucleotide variantNM_001349206.2(LPIN1):c.2706C>T (p.Thr902=)not provided [RCV005179137]likely benign21182471611824716Humanname
597936857CV3855906single nucleotide variantNM_001349206.2(LPIN1):c.2775A>G (p.Ser925=)not provided [RCV005186872]likely benign21182478511824785Humanname
597923889CV3863017single nucleotide variantNM_001349206.2(LPIN1):c.1752A>G (p.Lys584=)not provided [RCV005205505]likely benign21179195211791952Humanname
598127431CV3882659single nucleotide variantNM_001349206.2(LPIN1):c.2082G>A (p.Thr694=)Myoglobinuria, acute recurrent, autosomal recessive [RCV005234189]likely benign21180449111804491Human1name
12895824CV389482single nucleotide variantNM_001261428.3(LPIN1):c.113G>A (p.Arg38Gln)Hyperchloremia [RCV002292443]|LPIN1-related disorder [RCV003972717]|not provided [RCV000843237]|not specified [RCV000454503]likely pathogenic|benign21171378711713787Human2name , trait , alternate_id
598226398CV3895794deletionNM_001349206.2(LPIN1):c.625del (p.Gln209fs)Myoglobinuria, acute recurrent, autosomal recessive [RCV005362087]likely pathogenic21177364711773647Human1name
13515577CV491933single nucleotide variantNM_001349206.2(LPIN1):c.1044C>T (p.Ser348=)not provided [RCV000594448]conflicting interpretations of pathogenicity|uncertain significance21178228711782287Humanname
13538282CV498897single nucleotide variantNM_001349206.2(LPIN1):c.2163A>G (p.Arg721=)Myoglobinuria, acute recurrent, autosomal recessive [RCV005027729]|not provided [RCV002528797]|not specified [RCV000611604]likely benign|uncertain significance21180507011805070Human1name
15149220CV707689single nucleotide variantNM_001349206.2(LPIN1):c.2067G>T (p.Thr689=)Myoglobinuria, acute recurrent, autosomal recessive [RCV001130282]|not provided [RCV000967712]likely benign|uncertain significance21180447611804476Human1name
15196752CV746746single nucleotide variantNM_001349206.2(LPIN1):c.2046C>T (p.Asp682=)not provided [RCV000911785]likely benign21180445511804455Humanname
15118123CV780817single nucleotide variantNM_001349206.2(LPIN1):c.1629A>T (p.Val543=)not provided [RCV000978893]likely benign21178715311787153Humanname
21074991CV798480deletionNM_001349206.2(LPIN1):c.942del (p.Pro315fs)Myoglobinuria, acute recurrent, autosomal recessive [RCV000995801]pathogenic|likely pathogenic21177963011779630Human1name
28878479CV880922single nucleotide variantNM_001349206.2(LPIN1):c.152G>A (p.Arg51His)Myoglobinuria, acute recurrent, autosomal recessive [RCV001135186]uncertain significance21176569311765693Human1name
28875236CV880928single nucleotide variantNM_001349206.2(LPIN1):c.1242G>A (p.Thr414=)Myoglobinuria, acute recurrent, autosomal recessive [RCV001133826]|not provided [RCV002558282]benign|likely benign21178248511782485Human1name
28868876CV880934single nucleotide variantNM_001349206.2(LPIN1):c.2043C>T (p.Asn681=)LPIN1-related disorder [RCV003963070]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001130281]|not provided [RCV002070520]likely benign|uncertain significance21180445211804452Human1name , trait , alternate_id
28870063CV880938single nucleotide variantNM_001349206.2(LPIN1):c.2343G>A (p.Thr781=)LPIN1-related disorder [RCV003918720]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001130991]|not provided [RCV002070527]benign|likely benign|uncertain significance21181518111815181Human1name , trait , alternate_id
126736936CV1015824single nucleotide variantNM_001349206.2(LPIN1):c.434C>T (p.Thr145Met)Myoglobinuria, acute recurrent, autosomal recessive [RCV001328647]|not provided [RCV002546269]conflicting interpretations of pathogenicity|uncertain significance21177151711771517Human1name
150479808CV1219303deletionNM_001349206.2(LPIN1):c.1643+231_1643+232delnot provided [RCV001616645]benign21178739711787398Humanname
151771396CV1340334single nucleotide variantNM_001349206.2(LPIN1):c.967C>G (p.Pro323Ala)Myoglobinuria, acute recurrent, autosomal recessive [RCV003132579]|not provided [RCV001874483]uncertain significance21178221011782210Human1name
151810597CV1345156deletionNM_001349206.2(LPIN1):c.2380del (p.Ser794fs)not provided [RCV001878230]pathogenic21181521811815218Humanname
151667582CV1353973single nucleotide variantNM_001349206.2(LPIN1):c.305A>G (p.His102Arg)not provided [RCV001963798]uncertain significance21177138811771388Humanname
151792436CV1354318single nucleotide variantNM_001349206.2(LPIN1):c.704A>G (p.Glu235Gly)not provided [RCV001876635]uncertain significance21177372711773727Humanname
151781088CV1356210single nucleotide variantNM_001349206.2(LPIN1):c.462G>C (p.Lys154Asn)not provided [RCV002046172]uncertain significance21177154511771545Humanname
151712347CV1387009single nucleotide variantNM_001349206.2(LPIN1):c.928C>G (p.Leu310Val)Myoglobinuria, acute recurrent, autosomal recessive [RCV002503609]|not provided [RCV001964545]uncertain significance21177961611779616Human1name
151828174CV1435665single nucleotide variantNM_001349206.2(LPIN1):c.548C>T (p.Pro183Leu)not provided [RCV001955414]uncertain significance21177163111771631Humanname
151889355CV1435906single nucleotide variantNM_001349206.2(LPIN1):c.541A>G (p.Met181Val)Myoglobinuria, acute recurrent, autosomal recessive [RCV002492157]|not provided [RCV001963412]uncertain significance21177162411771624Human1name
151709148CV1476212single nucleotide variantNM_001349206.2(LPIN1):c.671C>G (p.Pro224Arg)not provided [RCV001907615]uncertain significance21177369411773694Humanname
151853648CV1487000single nucleotide variantNM_001349206.2(LPIN1):c.982G>A (p.Glu328Lys)not provided [RCV001937677]uncertain significance21178222511782225Humanname
151839625CV1487646single nucleotide variantNM_001349206.2(LPIN1):c.955A>C (p.Lys319Gln)Inborn genetic diseases [RCV004988918]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005016838]|not provided [RCV001935949]uncertain significance21177964311779643Human2name
156002022CV1869505single nucleotide variantNM_001349206.2(LPIN1):c.437C>T (p.Pro146Leu)Myoglobinuria, acute recurrent, autosomal recessive [RCV005019609]|not provided [RCV003076636]uncertain significance21177152011771520Human1name
156086610CV1899011single nucleotide variantNM_001349206.2(LPIN1):c.933G>A (p.Trp311Ter)not provided [RCV003080060]pathogenic21177962111779621Humanname
156015194CV1912734single nucleotide variantNM_001349206.2(LPIN1):c.404C>T (p.Thr135Met)Inborn genetic diseases [RCV003250784]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005028256]|not provided [RCV002619109]uncertain significance21177148711771487Human2name
156405396CV1919322single nucleotide variantNM_001349206.2(LPIN1):c.716C>A (p.Thr239Asn)not provided [RCV002585637]uncertain significance21177373911773739Humanname
156024031CV1922244single nucleotide variantNM_001349206.2(LPIN1):c.302T>G (p.Met101Arg)Inborn genetic diseases [RCV004636683]|not provided [RCV002636847]uncertain significance21177138511771385Human1name
156225381CV1956643single nucleotide variantNM_001349206.2(LPIN1):c.896G>T (p.Arg299Met)Inborn genetic diseases [RCV005350955]|not provided [RCV002575682]uncertain significance21177958411779584Human1name
155906185CV1972145single nucleotide variantNM_001349206.2(LPIN1):c.566A>G (p.Asp189Gly)not provided [RCV002613687]uncertain significance21177164911771649Humanname
8558351CV19949single nucleotide variantNM_001349206.2(LPIN1):c.643G>T (p.Glu215Ter)Myoglobinuria, acute recurrent, autosomal recessive [RCV000005192]pathogenic21177366611773666Human1name
156148147CV2003073single nucleotide variantNM_001349206.2(LPIN1):c.877G>T (p.Val293Phe)not provided [RCV002663807]uncertain significance21177956511779565Humanname
156121352CV2013869single nucleotide variantNM_001349206.2(LPIN1):c.899C>G (p.Thr300Arg)not provided [RCV002740210]uncertain significance21177958711779587Humanname
155954358CV2014202deletionNM_001349206.2(LPIN1):c.1784del (p.Gly595fs)not provided [RCV002686187]pathogenic21179198111791981Humanname
156233683CV2021344single nucleotide variantNM_001349206.2(LPIN1):c.604C>T (p.Pro202Ser)not provided [RCV002745402]uncertain significance21177362711773627Humanname
155948908CV2029142deletionNM_001349206.2(LPIN1):c.2151del (p.Thr718fs)not provided [RCV002730569]pathogenic21180455811804558Humanname
156297130CV2069707single nucleotide variantNM_001349206.2(LPIN1):c.648C>A (p.Asn216Lys)not provided [RCV002833451]uncertain significance21177367111773671Humanname
155920422CV2102371single nucleotide variantNM_001349206.2(LPIN1):c.367G>A (p.Gly123Ser)Myoglobinuria, acute recurrent, autosomal recessive [RCV005019441]|not provided [RCV002903330]uncertain significance21177145011771450Human1name
155999403CV2106667single nucleotide variantNM_001349206.2(LPIN1):c.341C>T (p.Ser114Leu)Inborn genetic diseases [RCV004067227]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005019487]|not provided [RCV002947715]uncertain significance21177142411771424Human2name
156027701CV2125238single nucleotide variantNM_001349206.2(LPIN1):c.844C>T (p.Arg282Ter)not provided [RCV002949085]pathogenic21177953211779532Humanname
156242122CV2129845single nucleotide variantNM_001349206.2(LPIN1):c.838G>A (p.Gly280Ser)not provided [RCV002958909]uncertain significance21177952611779526Humanname
156365750CV2130615single nucleotide variantNM_001349206.2(LPIN1):c.878T>G (p.Val293Gly)Inborn genetic diseases [RCV004068316]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005019519]|not provided [RCV002967290]uncertain significance21177956611779566Human2name
155960423CV2138318single nucleotide variantNM_001349206.2(LPIN1):c.635T>C (p.Ile212Thr)not provided [RCV002972356]uncertain significance21177365811773658Humanname
156195324CV2171494deletionNM_001349206.2(LPIN1):c.2650del (p.His884fs)not provided [RCV003024267]uncertain significance21182465911824659Humanname
156086517CV2295340single nucleotide variantNM_001349206.2(LPIN1):c.436C>T (p.Pro146Ser)Inborn genetic diseases [RCV002887753]uncertain significance21177151911771519Human1name
243053015CV2418075deletionNM_001349206.2(LPIN1):c.1029del (p.Gln344fs)Myoglobinuria, acute recurrent, autosomal recessive [RCV003153140]|not provided [RCV003575046]pathogenic21178227011782270Human1name
329401122CV2446156single nucleotide variantNM_001349206.2(LPIN1):c.584T>C (p.Leu195Pro)Inborn genetic diseases [RCV003198126]uncertain significance21177166711771667Human1name
329351618CV2459189single nucleotide variantNM_001349206.2(LPIN1):c.563C>T (p.Ser188Leu)Inborn genetic diseases [RCV003199919]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005021854]uncertain significance21177164611771646Human2name
401773195CV2716485single nucleotide variantNM_001349206.2(LPIN1):c.661G>A (p.Val221Met)Inborn genetic diseases [RCV003304901]likely benign21177368411773684Human1name
401896182CV2773765single nucleotide variantNM_001349206.2(LPIN1):c.446G>A (p.Ser149Asn)Inborn genetic diseases [RCV003373788]uncertain significance21177152911771529Human1name
401913252CV2801646single nucleotide variantNM_001349206.2(LPIN1):c.984G>T (p.Glu328Asp)LPIN1-related disorder [RCV003400094]uncertain significance21178222711782227Humanname , trait , alternate_id
11654953CV281684single nucleotide variantNM_001349206.2(LPIN1):c.688C>T (p.Pro230Ser)Myoglobinuria, acute recurrent, autosomal recessive [RCV000321734]uncertain significance21177371111773711Human1name
11581759CV281685single nucleotide variantNM_001349206.2(LPIN1):c.695C>T (p.Ser232Leu)Myoglobinuria, acute recurrent, autosomal recessive [RCV000383344]|not provided [RCV001859959]uncertain significance21177371811773718Human1name
11581678CV284008single nucleotide variantNM_001349206.2(LPIN1):c.616C>G (p.Pro206Ala)Inborn genetic diseases [RCV003243087]|Myoglobinuria, acute recurrent, autosomal recessive [RCV000380031]|not provided [RCV000523572]uncertain significance21177363911773639Human2name
402486773CV2999098single nucleotide variantNM_001349206.2(LPIN1):c.935G>C (p.Gly312Ala)Inborn genetic diseases [RCV004985494]|not provided [RCV003687134]uncertain significance21177962311779623Human1name
405159502CV3021335microsatelliteNM_001349206.2(LPIN1):c.78_79del (p.Ser28fs)not provided [RCV003703859]pathogenic21176561611765617Humanname
405057296CV3147777single nucleotide variantNM_001349206.2(LPIN1):c.955A>G (p.Lys319Glu)not provided [RCV003850007]uncertain significance21177964311779643Humanname
405815575CV3284187single nucleotide variantNM_001349206.2(LPIN1):c.624C>G (p.Phe208Leu)Inborn genetic diseases [RCV004410584]uncertain significance21177364711773647Human1name
596938386CV3550230single nucleotide variantNM_001349206.2(LPIN1):c.479G>A (p.Arg160Lys)Myoglobinuria, acute recurrent, autosomal recessive [RCV004813532]uncertain significance21177156211771562Human1name
12848686CV365680single nucleotide variantNM_001349206.2(LPIN1):c.842C>A (p.Ser281Tyr)not provided [RCV000444623]uncertain significance21177953011779530Humanname
597702519CV3699076single nucleotide variantNM_001349206.2(LPIN1):c.553G>A (p.Glu185Lys)Inborn genetic diseases [RCV004988237]uncertain significance21177163611771636Human1name
597629634CV3699077single nucleotide variantNM_001349206.2(LPIN1):c.335G>C (p.Gly112Ala)Inborn genetic diseases [RCV004988238]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005023777]uncertain significance21177141811771418Human2name
597752155CV3706009single nucleotide variantNM_001349206.2(LPIN1):c.467G>A (p.Arg156Lys)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016023]uncertain significance21177155011771550Human1name
597752165CV3706011single nucleotide variantNM_001349206.2(LPIN1):c.649C>T (p.Leu217Phe)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016025]uncertain significance21177367211773672Human1name
597663611CV3706012single nucleotide variantNM_001349206.2(LPIN1):c.691A>G (p.Asn231Asp)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028784]uncertain significance21177371411773714Human1name
597663629CV3706016single nucleotide variantNM_001349206.2(LPIN1):c.922C>T (p.Leu308Phe)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028786]uncertain significance21177961011779610Human1name
597752175CV3706017single nucleotide variantNM_001349206.2(LPIN1):c.957G>T (p.Lys319Asn)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016027]likely pathogenic21177964511779645Human1name
597752180CV3706018single nucleotide variantNM_001349206.2(LPIN1):c.977T>C (p.Met326Thr)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016028]uncertain significance21178222011782220Human1name
597752185CV3706019single nucleotide variantNM_001349206.2(LPIN1):c.979A>G (p.Lys327Glu)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016029]uncertain significance21178222211782222Human1name
597663764CV3706053duplicationNM_001349206.2(LPIN1):c.2241dup (p.Val748fs)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028801]likely pathogenic21180514511805146Human1name
598122262CV3888761microsatelliteNM_001349207.2(LPIN1):c.81+36036_81+36038delnot provided [RCV005244935]uncertain significance21171376111713763Humanname
13831890CV582388single nucleotide variantNM_001349206.2(LPIN1):c.669C>G (p.Tyr223Ter)not provided [RCV000722575]uncertain significance21177369211773692Humanname
14693634CV620027deletionNM_001349206.2(LPIN1):c.1367del (p.Pro456fs)not provided [RCV001092530]pathogenic|uncertain significance21178489311784893Humanname
28868697CV880925single nucleotide variantNM_001349206.2(LPIN1):c.524C>T (p.Thr175Ile)Myoglobinuria, acute recurrent, autosomal recessive [RCV001130149]uncertain significance21177160711771607Human1name
28869825CV880926single nucleotide variantNM_001349206.2(LPIN1):c.854C>A (p.Thr285Lys)Myoglobinuria, acute recurrent, autosomal recessive [RCV001130856]|not provided [RCV001759892]conflicting interpretations of pathogenicity|uncertain significance21177954211779542Human1name
126736930CV1015825single nucleotide variantNM_001349206.2(LPIN1):c.1862C>T (p.Pro621Leu)Inborn genetic diseases [RCV002546268]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001328646]|not provided [RCV001871795]uncertain significance21179546311795463Human2name
126734380CV1019449single nucleotide variantNM_001349206.2(LPIN1):c.1822C>T (p.Gln608Ter)Myoglobinuria, acute recurrent, autosomal recessive [RCV001334585]pathogenic21179542311795423Humanname
8643407CV102390single nucleotide variantNM_001349206.2(LPIN1):c.2282G>A (p.Arg761His)Myoglobinuria, acute recurrent, autosomal recessive [RCV003635903]|not provided [RCV000082648]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance21181512011815120Human1name
126914892CV1038908single nucleotide variantNM_001349206.2(LPIN1):c.1276C>T (p.Arg426Ter)LPIN1-related disorder [RCV004754740]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001358672]|See cases [RCV002252674]pathogenic|likely pathogenic21178384011783840Human1name , trait , alternate_id
127289292CV1151946single nucleotide variantNM_001349206.2(LPIN1):c.2777C>T (p.Ala926Val)Myoglobinuria, acute recurrent, autosomal recessive [RCV002488313]|not provided [RCV001509131]uncertain significance21182478711824787Human1name
150551663CV1294864single nucleotide variantNM_001349206.2(LPIN1):c.1271G>A (p.Arg424Gln)Myoglobinuria, acute recurrent, autosomal recessive [RCV002503197]|not provided [RCV001754457]uncertain significance21178383511783835Human1name
150545798CV1297607single nucleotide variantNM_001349206.2(LPIN1):c.1893G>T (p.Lys631Asn)Inborn genetic diseases [RCV002544033]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002506767]|not provided [RCV001763195]uncertain significance21180291311802913Human2name
150541956CV1302434single nucleotide variantNM_001349206.2(LPIN1):c.1292A>G (p.Asp431Gly)not provided [RCV001761124]uncertain significance21178385611783856Humanname
150544726CV1313532single nucleotide variantNM_001349206.2(LPIN1):c.1564C>T (p.Gln522Ter)Myoglobinuria, acute recurrent, autosomal recessive [RCV001783610]pathogenic21178708811787088Human1name
151843195CV1339212single nucleotide variantNM_001349206.2(LPIN1):c.1542C>G (p.Ile514Met)Myoglobinuria, acute recurrent, autosomal recessive [RCV002492203]|not provided [RCV001977952]uncertain significance21178506911785069Human1name
151891067CV1344565single nucleotide variantNM_001349206.2(LPIN1):c.1121C>T (p.Thr374Ile)Inborn genetic diseases [RCV004641774]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002478379]|not provided [RCV001943230]uncertain significance21178236411782364Human2name
151840252CV1345828single nucleotide variantNM_001349206.2(LPIN1):c.1369T>G (p.Ser457Ala)not provided [RCV001902750]uncertain significance21178489611784896Humanname
151781550CV1360236single nucleotide variantNM_001349206.2(LPIN1):c.1862C>A (p.Pro621Gln)not provided [RCV001865011]uncertain significance21179546311795463Humanname
151775127CV1362159single nucleotide variantNM_001349206.2(LPIN1):c.1475A>G (p.Asp492Gly)Myoglobinuria, acute recurrent, autosomal recessive [RCV002492043]|not provided [RCV001950541]uncertain significance21178500211785002Human1name
151777357CV1365315single nucleotide variantNM_001349206.2(LPIN1):c.1582C>T (p.Gln528Ter)not provided [RCV001864643]pathogenic21178710611787106Humanname
151772820CV1368588single nucleotide variantNM_001349206.2(LPIN1):c.1110C>A (p.Asn370Lys)Inborn genetic diseases [RCV003167431]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002497814]|not provided [RCV001950329]uncertain significance21178235311782353Human2name
151828593CV1400704single nucleotide variantNM_001349206.2(LPIN1):c.1208C>G (p.Pro403Arg)Inborn genetic diseases [RCV002573430]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002484889]|not provided [RCV001976423]uncertain significance21178245111782451Human2name
151741203CV1404836single nucleotide variantNM_001349206.2(LPIN1):c.2621C>T (p.Ser874Leu)Myoglobinuria, acute recurrent, autosomal recessive [RCV002482542]|not provided [RCV001947120]uncertain significance21182051411820514Human1name
151780701CV1408513single nucleotide variantNM_001349206.2(LPIN1):c.1651A>T (p.Asn551Tyr)Inborn genetic diseases [RCV002555667]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002490236]|not provided [RCV001915850]uncertain significance21178839411788394Human2name
151869796CV1412224single nucleotide variantNM_001349206.2(LPIN1):c.2187G>T (p.Leu729Phe)not provided [RCV001884993]uncertain significance21180509411805094Humanname
151796025CV1415673single nucleotide variantNM_001349206.2(LPIN1):c.1478G>A (p.Gly493Glu)not provided [RCV001898624]uncertain significance21178500511785005Humanname
151720194CV1420780single nucleotide variantNM_001349206.2(LPIN1):c.1428G>C (p.Gln476His)not provided [RCV002039961]uncertain significance21178495511784955Humanname
151817883CV1436055single nucleotide variantNM_001349206.2(LPIN1):c.2601T>A (p.His867Gln)not provided [RCV001975437]uncertain significance21182049411820494Humanname
151731905CV1436387single nucleotide variantNM_001349206.2(LPIN1):c.1624G>A (p.Val542Met)not provided [RCV002004865]uncertain significance21178714811787148Humanname
151734995CV1440579single nucleotide variantNM_001349206.2(LPIN1):c.1982A>G (p.Lys661Arg)Inborn genetic diseases [RCV004041746]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002478310]|not provided [RCV001911289]uncertain significance21180300211803002Human2name
151798397CV1445770single nucleotide variantNM_001349206.2(LPIN1):c.1390A>G (p.Ser464Gly)Inborn genetic diseases [RCV004982850]|not provided [RCV002011338]uncertain significance21178491711784917Human1name
151835895CV1451886single nucleotide variantNM_001349206.2(LPIN1):c.2066C>T (p.Thr689Met)Inborn genetic diseases [RCV002573545]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002484922]|not provided [RCV001994188]uncertain significance21180447511804475Human2name
151792934CV1467529single nucleotide variantNM_001349206.2(LPIN1):c.1945G>A (p.Ala649Thr)Inborn genetic diseases [RCV002560696]|not provided [RCV001931593]likely benign|uncertain significance21180296511802965Human1name
151846361CV1483754single nucleotide variantNM_001349206.2(LPIN1):c.1979A>G (p.Tyr660Cys)Myoglobinuria, acute recurrent, autosomal recessive [RCV002490225]|not provided [RCV001903488]uncertain significance21180299911802999Human1name
151808017CV1505557single nucleotide variantNM_001349206.2(LPIN1):c.1040A>G (p.His347Arg)not provided [RCV002048587]uncertain significance21178228311782283Humanname
152081325CV1589392single nucleotide variantNM_001349206.2(LPIN1):c.1670C>A (p.Pro557His)Myoglobinuria, acute recurrent, autosomal recessive [RCV003333205]|not provided [RCV002112791]likely benign|uncertain significance21178841311788413Human1name
153304135CV1690629single nucleotide variantNM_001349206.2(LPIN1):c.1600G>T (p.Ala534Ser)not provided [RCV002269673]uncertain significance21178712411787124Humanname
156383682CV1870589single nucleotide variantNM_001349206.2(LPIN1):c.1289C>T (p.Ala430Val)Inborn genetic diseases [RCV004985142]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005019624]|not provided [RCV003067383]uncertain significance21178385311783853Human2name
156324407CV1871042single nucleotide variantNM_001349206.2(LPIN1):c.1534C>T (p.Arg512Trp)not provided [RCV003063300]uncertain significance21178506111785061Humanname
156290433CV1881787single nucleotide variantNM_001349206.2(LPIN1):c.1378G>A (p.Ala460Thr)Inborn genetic diseases [RCV003061433]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005019637]|not provided [RCV003061434]uncertain significance21178490511784905Human2name
156187642CV1882577single nucleotide variantNM_001349206.2(LPIN1):c.1520G>A (p.Gly507Asp)not provided [RCV003083768]uncertain significance21178504711785047Humanname
156410571CV1882596single nucleotide variantNM_001349206.2(LPIN1):c.2564T>A (p.Phe855Tyr)Inborn genetic diseases [RCV003072122]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005019648]|not provided [RCV003072123]uncertain significance21182045711820457Human2name
156189235CV1882756single nucleotide variantNM_001349206.2(LPIN1):c.1228A>G (p.Thr410Ala)not provided [RCV003083817]uncertain significance21178247111782471Humanname
156285738CV1884803single nucleotide variantNM_001349206.2(LPIN1):c.2038C>T (p.Pro680Ser)Inborn genetic diseases [RCV004071689]|not provided [RCV003061236]uncertain significance21180444711804447Human1name
156017111CV1885332single nucleotide variantNM_001349206.2(LPIN1):c.2087G>A (p.Arg696His)not provided [RCV003077424]uncertain significance21180449611804496Humanname
156179543CV1888245single nucleotide variantNM_001349206.2(LPIN1):c.2533A>G (p.Lys845Glu)Myoglobinuria, acute recurrent, autosomal recessive [RCV005019633]|not provided [RCV003083509]uncertain significance21182042611820426Human1name
156388109CV1888255single nucleotide variantNM_001349206.2(LPIN1):c.2605A>G (p.Lys869Glu)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028183]|not provided [RCV003067732]uncertain significance21182049811820498Human1name
156124074CV1892767single nucleotide variantNM_001349206.2(LPIN1):c.1568C>A (p.Ala523Asp)not provided [RCV003081564]uncertain significance21178709211787092Humanname
156411899CV1894061single nucleotide variantNM_001349206.2(LPIN1):c.1172C>T (p.Ala391Val)Inborn genetic diseases [RCV003161746]|not provided [RCV003072674]uncertain significance21178241511782415Human1name
156413356CV1900915single nucleotide variantNM_001349206.2(LPIN1):c.2755C>G (p.Gln919Glu)Inborn genetic diseases [RCV004073409]|not provided [RCV002588139]uncertain significance21182476511824765Human1name
156099596CV1906997single nucleotide variantNM_001349206.2(LPIN1):c.1088G>A (p.Gly363Asp)not provided [RCV003080550]uncertain significance21178233111782331Humanname
156367108CV1909410single nucleotide variantNM_001349206.2(LPIN1):c.1921C>T (p.Arg641Cys)not provided [RCV002602899]uncertain significance21180294111802941Humanname
156261747CV1913566single nucleotide variantNM_001349206.2(LPIN1):c.1609G>C (p.Asp537His)not provided [RCV002627788]uncertain significance21178713311787133Humanname
156214495CV1914251single nucleotide variantNM_001349206.2(LPIN1):c.2044G>A (p.Asp682Asn)Myoglobinuria, acute recurrent, autosomal recessive [RCV005021608]|not provided [RCV002596203]uncertain significance21180445311804453Human1name
156020158CV1915036single nucleotide variantNM_001349206.2(LPIN1):c.1203A>C (p.Lys401Asn)not provided [RCV002636669]uncertain significance21178244611782446Humanname
156041333CV1918534single nucleotide variantNM_001349206.2(LPIN1):c.1277G>A (p.Arg426Gln)not provided [RCV002620267]uncertain significance21178384111783841Humanname
156369485CV1920016single nucleotide variantNM_001349206.2(LPIN1):c.2332G>A (p.Glu778Lys)not provided [RCV002603062]uncertain significance21181517011815170Humanname
156023378CV1920028single nucleotide variantNM_001349206.2(LPIN1):c.1763G>A (p.Arg588Lys)not provided [RCV002619509]uncertain significance21179196311791963Humanname
156064707CV1925844single nucleotide variantNM_001349206.2(LPIN1):c.2599C>T (p.His867Tyr)not provided [RCV002621062]uncertain significance21182049211820492Humanname
156059597CV1927684single nucleotide variantNM_001349206.2(LPIN1):c.2699C>T (p.Ser900Leu)Inborn genetic diseases [RCV004985260]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005021648]|not provided [RCV002659646]uncertain significance21182470911824709Human2name
156040412CV1929541single nucleotide variantNM_001349206.2(LPIN1):c.2242G>T (p.Val748Leu)Myoglobinuria, acute recurrent, autosomal recessive [RCV005021636]|not provided [RCV002637551]uncertain significance21180514911805149Human1name
156167420CV1930040single nucleotide variantNM_001349206.2(LPIN1):c.2669A>G (p.Lys890Arg)not provided [RCV002624598]uncertain significance21182467911824679Humanname
156377902CV1930699single nucleotide variantNM_001349206.2(LPIN1):c.1004G>T (p.Arg335Ile)Inborn genetic diseases [RCV002634007]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005028299]|not provided [RCV002634008]uncertain significance21178224711782247Human2name
156354051CV1933162single nucleotide variantNM_001349206.2(LPIN1):c.2086C>T (p.Arg696Cys)not provided [RCV002651126]uncertain significance21180449511804495Humanname
156185336CV1933778single nucleotide variantNM_001349206.2(LPIN1):c.1255A>G (p.Arg419Gly)not provided [RCV002625180]uncertain significance21178249811782498Humanname
156185466CV1933785single nucleotide variantNM_001349206.2(LPIN1):c.2774C>T (p.Ser925Leu)not provided [RCV002625184]uncertain significance21182478411824784Humanname
156448928CV1948239single nucleotide variantNM_001349206.2(LPIN1):c.1157C>T (p.Thr386Ile)not provided [RCV003121035]uncertain significance21178240011782400Humanname
156071448CV1959277single nucleotide variantNM_001349206.2(LPIN1):c.1822C>G (p.Gln608Glu)not provided [RCV002569615]uncertain significance21179542311795423Humanname
156406746CV1963751single nucleotide variantNM_001349206.2(LPIN1):c.2356G>T (p.Gly786Trp)not provided [RCV002586004]uncertain significance21181519411815194Humanname
156287735CV1964708single nucleotide variantNM_001349206.2(LPIN1):c.2653G>A (p.Val885Ile)Inborn genetic diseases [RCV003375630]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005025865]|not provided [RCV002577705]uncertain significance21182466311824663Human2name
156241830CV1981360single nucleotide variantNM_001349206.2(LPIN1):c.1852G>C (p.Gly618Arg)not provided [RCV002645600]likely benign21179545311795453Humanname
156399556CV1982143single nucleotide variantNM_001349206.2(LPIN1):c.2590G>A (p.Val864Ile)not provided [RCV002635839]uncertain significance21182048311820483Humanname
8558352CV19950single nucleotide variantNM_001349206.2(LPIN1):c.1270C>T (p.Arg424Ter)Myoglobinuria, acute recurrent, autosomal recessive [RCV000005193]|not provided [RCV000760456]pathogenic21178383411783834Human1name
8558353CV19951single nucleotide variantNM_001349206.2(LPIN1):c.2509C>T (p.Arg837Ter)Myoglobinuria, acute recurrent, autosomal recessive [RCV000005194]|not provided [RCV000760457]pathogenic21181959011819590Human1name
156376227CV2000285single nucleotide variantNM_001349206.2(LPIN1):c.1490T>G (p.Leu497Arg)not provided [RCV002653314]uncertain significance21178501711785017Humanname
156099833CV2007728single nucleotide variantNM_001349206.2(LPIN1):c.2192C>A (p.Thr731Asn)not provided [RCV002695263]uncertain significance21180509911805099Humanname
156394897CV2015924single nucleotide variantNM_001349206.2(LPIN1):c.1867C>G (p.Gln623Glu)not provided [RCV002725450]uncertain significance21179546811795468Humanname
156315653CV2017971single nucleotide variantNM_001349206.2(LPIN1):c.2702A>T (p.Asp901Val)not provided [RCV002671886]uncertain significance21182471211824712Humanname
156063297CV2018250single nucleotide variantNM_001349206.2(LPIN1):c.1838A>T (p.Lys613Met)not provided [RCV002705454]uncertain significance21179543911795439Humanname
156069432CV2018480single nucleotide variantNM_001349206.2(LPIN1):c.1406G>C (p.Arg469Pro)not provided [RCV002705636]uncertain significance21178493311784933Humanname
156025046CV2025647single nucleotide variantNM_001349206.2(LPIN1):c.1044C>A (p.Ser348Arg)not provided [RCV002735555]uncertain significance21178228711782287Humanname
156031469CV2036942single nucleotide variantNM_001349206.2(LPIN1):c.1402G>C (p.Ala468Pro)not provided [RCV002781128]uncertain significance21178492911784929Humanname
156110625CV2038753single nucleotide variantNM_001349206.2(LPIN1):c.2131A>G (p.Ile711Val)Inborn genetic diseases [RCV004067960]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005019369]|not provided [RCV002761678]uncertain significance21180454011804540Human2name
156137928CV2040601single nucleotide variantNM_001349206.2(LPIN1):c.1577A>G (p.Tyr526Cys)not provided [RCV002786415]uncertain significance21178710111787101Humanname
156023670CV2040851single nucleotide variantNM_001349206.2(LPIN1):c.2155A>C (p.Ile719Leu)not provided [RCV002795706]uncertain significance21180456411804564Humanname
156011723CV2041938single nucleotide variantNM_001349206.2(LPIN1):c.2189C>T (p.Pro730Leu)Inborn genetic diseases [RCV004067943]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005019366]|not provided [RCV002780180]uncertain significance21180509611805096Human2name
156206458CV2042267single nucleotide variantNM_001349206.2(LPIN1):c.2279C>T (p.Ala760Val)not provided [RCV002766437]uncertain significance21181511711815117Humanname
155903674CV2047885single nucleotide variantNM_001349206.2(LPIN1):c.2731G>A (p.Glu911Lys)not provided [RCV002771130]uncertain significance21182474111824741Humanname
156056742CV2050601single nucleotide variantNM_001349206.2(LPIN1):c.2573A>G (p.Asn858Ser)not provided [RCV002796953]uncertain significance21182046611820466Humanname
155936565CV2058050single nucleotide variantNM_001349206.2(LPIN1):c.1600G>A (p.Ala534Thr)not provided [RCV002815413]uncertain significance21178712411787124Humanname
156356170CV2062821single nucleotide variantNM_001349206.2(LPIN1):c.1075C>A (p.Pro359Thr)not provided [RCV002812144]uncertain significance21178231811782318Humanname
156310974CV2063406single nucleotide variantNM_001349206.2(LPIN1):c.2575C>A (p.Pro859Thr)not provided [RCV002834118]uncertain significance21182046811820468Humanname
156017046CV2083543single nucleotide variantNM_001349206.2(LPIN1):c.2031G>C (p.Lys677Asn)not provided [RCV002866413]uncertain significance21180444011804440Humanname
156165779CV2091780single nucleotide variantNM_001349206.2(LPIN1):c.1960C>T (p.Leu654Phe)not provided [RCV002891167]uncertain significance21180298011802980Humanname
156090621CV2092336single nucleotide variantNM_001349206.2(LPIN1):c.1379C>T (p.Ala460Val)Myoglobinuria, acute recurrent, autosomal recessive [RCV005019446]|not provided [RCV002913023]uncertain significance21178490611784906Human1name
156203282CV2110153single nucleotide variantNM_001349206.2(LPIN1):c.2501T>C (p.Phe834Ser)not provided [RCV002957460]uncertain significance21181958211819582Humanname
155992530CV2112624single nucleotide variantNM_001349206.2(LPIN1):c.2224G>A (p.Ala742Thr)Myoglobinuria, acute recurrent, autosomal recessive [RCV005019476]|not provided [RCV002947397]uncertain significance21180513111805131Human1name
156098768CV2117018indelNM_001349206.2(LPIN1):c.831-19_831-18delinsTAnot provided [RCV002952657]uncertain significance21177950011779501Humanname
156098952CV2117032single nucleotide variantNM_001349206.2(LPIN1):c.1816C>G (p.Pro606Ala)not provided [RCV002952664]uncertain significance21179541711795417Humanname
156209910CV2117679single nucleotide variantNM_001349206.2(LPIN1):c.1385A>C (p.His462Pro)Myoglobinuria, acute recurrent, autosomal recessive [RCV005019492]|not provided [RCV002957699]uncertain significance21178491211784912Human1name
156018856CV2120759single nucleotide variantNM_001349206.2(LPIN1):c.2510G>A (p.Arg837Gln)Inborn genetic diseases [RCV004065038]|not provided [RCV002976048]uncertain significance21181959111819591Human1name
156223895CV2121709single nucleotide variantNM_001349206.2(LPIN1):c.1892A>G (p.Lys631Arg)not provided [RCV002958251]uncertain significance21180291211802912Humanname
156376913CV2124224single nucleotide variantNM_001349206.2(LPIN1):c.2423C>G (p.Pro808Arg)not provided [RCV002942802]uncertain significance21181950411819504Humanname
156318348CV2140529single nucleotide variantNM_001349206.2(LPIN1):c.2768C>T (p.Ser923Phe)not provided [RCV003011531]uncertain significance21182477811824778Humanname
155944071CV2143175single nucleotide variantNM_001349206.2(LPIN1):c.1241C>T (p.Thr414Met)not provided [RCV002994239]uncertain significance21178248411782484Humanname
156350571CV2147093single nucleotide variantNM_001349206.2(LPIN1):c.1216A>T (p.Ser406Cys)not provided [RCV003030841]uncertain significance21178245911782459Humanname
156067490CV2176181single nucleotide variantNM_001349206.2(LPIN1):c.1037T>G (p.Ile346Ser)not provided [RCV003053613]uncertain significance21178228011782280Humanname
156179314CV2229533single nucleotide variantNM_001349206.2(LPIN1):c.2428A>G (p.Lys810Glu)Inborn genetic diseases [RCV002742182]uncertain significance21181950911819509Human1name
156147554CV2289476single nucleotide variantNM_001349206.2(LPIN1):c.2681C>T (p.Ser894Phe)Inborn genetic diseases [RCV002850693]uncertain significance21182469111824691Human1name
156096424CV2294379single nucleotide variantNM_001349206.2(LPIN1):c.2660C>T (p.Pro887Leu)Inborn genetic diseases [RCV002870161]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005021718]|not provided [RCV003777898]uncertain significance21182467011824670Human2name
155964475CV2330451single nucleotide variantNM_001349206.2(LPIN1):c.2227A>G (p.Lys743Glu)Inborn genetic diseases [RCV002945217]uncertain significance21180513411805134Human1name
243054187CV2413131single nucleotide variantNM_001349206.2(LPIN1):c.2486C>G (p.Pro829Arg)Myoglobinuria, acute recurrent, autosomal recessive [RCV003131500]uncertain significance21181956711819567Human1name
329375314CV2468501single nucleotide variantNM_001349206.2(LPIN1):c.1388C>A (p.Ala463Glu)Inborn genetic diseases [RCV003211113]uncertain significance21178491511784915Human1name
11548388CV250101single nucleotide variantNM_001349206.2(LPIN1):c.1553C>T (p.Ala518Val)not specified [RCV000249019]likely benign21178707711787077Humanname
11550738CV250102single nucleotide variantNM_001349206.2(LPIN1):c.1588G>A (p.Val530Met)Myoglobinuria, acute recurrent, autosomal recessive [RCV000355477]|not provided [RCV002058412]|not specified [RCV000252145]benign|likely benign21178711211787112Human1name
11548449CV250104single nucleotide variantNM_001349206.2(LPIN1):c.1729A>G (p.Ile577Val)Myoglobinuria, acute recurrent, autosomal recessive [RCV001135319]|not provided [RCV000950078]|not specified [RCV000249108]benign|likely benign21179192911791929Human1name
11546140CV250106single nucleotide variantNM_001349206.2(LPIN1):c.1936C>T (p.Pro646Ser)Myoglobinuria, acute recurrent, autosomal recessive [RCV000267070]|not provided [RCV002058413]|not specified [RCV000246076]benign|likely benign21180295611802956Human1name
329952295CV2671643single nucleotide variantNM_001349206.2(LPIN1):c.2458A>G (p.Lys820Glu)Inborn genetic diseases [RCV004636721]|not provided [RCV003237039]uncertain significance21181953911819539Human1name
401733484CV2682127single nucleotide variantNM_001349206.2(LPIN1):c.2455A>G (p.Ile819Val)Inborn genetic diseases [RCV003249204]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005021882]uncertain significance21181953611819536Human2name
401777421CV2721715single nucleotide variantNM_001349206.2(LPIN1):c.1442C>T (p.Ser481Leu)Inborn genetic diseases [RCV003263539]uncertain significance21178496911784969Human1name
401874334CV2773905single nucleotide variantNM_001349206.2(LPIN1):c.1139A>G (p.Asn380Ser)Inborn genetic diseases [RCV003362224]uncertain significance21178238211782382Human1name
401881202CV2789499single nucleotide variantNM_001349206.2(LPIN1):c.2672G>C (p.Arg891Thr)Inborn genetic diseases [RCV003385241]uncertain significance21182468211824682Human1name
11581001CV281691single nucleotide variantNM_001349206.2(LPIN1):c.1225C>G (p.Gln409Glu)Myoglobinuria, acute recurrent, autosomal recessive [RCV000351789]|not provided [RCV000960465]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance21178246811782468Human1name
11581076CV282341single nucleotide variantNM_001349206.2(LPIN1):c.1924G>A (p.Ala642Thr)Myoglobinuria, acute recurrent, autosomal recessive [RCV000354981]|not provided [RCV001859961]uncertain significance21180294411802944Human1name
11663997CV283777single nucleotide variantNM_001349206.2(LPIN1):c.1790A>G (p.Asn597Ser)Myoglobinuria, acute recurrent, autosomal recessive [RCV000401385]uncertain significance21179199011791990Human1name
11581159CV284013single nucleotide variantNM_001349206.2(LPIN1):c.2393C>A (p.Ala798Asp)Myoglobinuria, acute recurrent, autosomal recessive [RCV000358200]uncertain significance21181523111815231Human1name
401961444CV2843762single nucleotide variantNM_001349206.2(LPIN1):c.2102T>G (p.Ile701Ser)not provided [RCV003481599]uncertain significance21180451111804511Humanname
405224944CV2885714single nucleotide variantNM_001349206.2(LPIN1):c.2281C>T (p.Arg761Cys)Myoglobinuria, acute recurrent, autosomal recessive [RCV005014752]|not provided [RCV003554498]likely pathogenic|uncertain significance21181511911815119Human1name
405222757CV2891144single nucleotide variantNM_001349206.2(LPIN1):c.1023T>G (p.Ser341Arg)Inborn genetic diseases [RCV004636769]|not provided [RCV003554176]uncertain significance21178226611782266Human1name
405232230CV2896335single nucleotide variantNM_001349206.2(LPIN1):c.1337C>T (p.Ala446Val)Myoglobinuria, acute recurrent, autosomal recessive [RCV005030126]|not provided [RCV003555706]uncertain significance21178390111783901Human1name
405111444CV2903143single nucleotide variantNM_001349206.2(LPIN1):c.1343T>G (p.Leu448Arg)not provided [RCV003557947]uncertain significance21178390711783907Humanname
405138438CV2903508single nucleotide variantNM_001349206.2(LPIN1):c.1061T>G (p.Phe354Cys)not provided [RCV003560645]uncertain significance21178230411782304Humanname
405223809CV3035836single nucleotide variantNM_001349206.2(LPIN1):c.1279C>T (p.His427Tyr)not provided [RCV003710361]uncertain significance21178384311783843Humanname
405209799CV3117319single nucleotide variantNM_001349206.2(LPIN1):c.2096G>A (p.Gly699Asp)not provided [RCV003823106]uncertain significance21180450511804505Humanname
405055570CV3138581single nucleotide variantNM_001349206.2(LPIN1):c.1609G>A (p.Asp537Asn)not provided [RCV003832426]uncertain significance21178713311787133Humanname
405240630CV3176776single nucleotide variantNM_001349206.2(LPIN1):c.1292A>C (p.Asp431Ala)not provided [RCV003867214]uncertain significance21178385611783856Humanname
405815567CV3284179single nucleotide variantNM_001349206.2(LPIN1):c.1613A>T (p.Asp538Val)Inborn genetic diseases [RCV004410576]uncertain significance21178713711787137Human1name
405815568CV3284180single nucleotide variantNM_001349206.2(LPIN1):c.1809A>T (p.Glu603Asp)Inborn genetic diseases [RCV004410577]uncertain significance21179541011795410Human1name
405815569CV3284181single nucleotide variantNM_001349206.2(LPIN1):c.2026T>G (p.Leu676Val)Inborn genetic diseases [RCV004410578]uncertain significance21180443511804435Human1name
405815571CV3284183single nucleotide variantNM_001349206.2(LPIN1):c.2217G>C (p.Gln739His)Inborn genetic diseases [RCV004410580]uncertain significance21180512411805124Human1name
405815573CV3284185single nucleotide variantNM_001349206.2(LPIN1):c.2579A>G (p.Lys860Arg)Inborn genetic diseases [RCV004410582]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005015130]uncertain significance21182047211820472Human2name
405815574CV3284186single nucleotide variantNM_001349206.2(LPIN1):c.2624A>T (p.Tyr875Phe)Inborn genetic diseases [RCV004410583]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005015131]uncertain significance21182463411824634Human2name
405815577CV3284189single nucleotide variantNM_001349206.2(LPIN1):c.1087G>A (p.Gly363Ser)Inborn genetic diseases [RCV004410586]|not provided [RCV005230619]uncertain significance21178233011782330Human1name
407471497CV3445959single nucleotide variantNM_001349206.2(LPIN1):c.1655G>C (p.Trp552Ser)Inborn genetic diseases [RCV004637416]uncertain significance21178839811788398Human1name
407471505CV3445961single nucleotide variantNM_001349206.2(LPIN1):c.2392G>T (p.Ala798Ser)Inborn genetic diseases [RCV004637418]uncertain significance21181523011815230Human1name
596927271CV3539962single nucleotide variantNM_001349206.2(LPIN1):c.1493C>T (p.Pro498Leu)not provided [RCV004790954]uncertain significance21178502011785020Humanname
12848629CV365342single nucleotide variantNM_001349206.2(LPIN1):c.2320C>T (p.His774Tyr)Myoglobinuria, acute recurrent, autosomal recessive [RCV005018738]|not provided [RCV000417929]uncertain significance21181515811815158Human1name
597702498CV3699073single nucleotide variantNM_001349206.2(LPIN1):c.1192G>A (p.Glu398Lys)Inborn genetic diseases [RCV004988234]uncertain significance21178243511782435Human1name
597702503CV3699074single nucleotide variantNM_001349206.2(LPIN1):c.2407G>A (p.Val803Met)Inborn genetic diseases [RCV004988235]uncertain significance21181948811819488Human1name
597702512CV3699075single nucleotide variantNM_001349206.2(LPIN1):c.2118G>T (p.Trp706Cys)Inborn genetic diseases [RCV004988236]uncertain significance21180452711804527Human1name
597663639CV3706020single nucleotide variantNM_001349206.2(LPIN1):c.1114C>A (p.Pro372Thr)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028787]uncertain significance21178235711782357Human1name
597752190CV3706021single nucleotide variantNM_001349206.2(LPIN1):c.1161A>T (p.Leu387Phe)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016030]uncertain significance21178240411782404Human1name
597663648CV3706022single nucleotide variantNM_001349206.2(LPIN1):c.1165G>A (p.Ala389Thr)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028788]uncertain significance21178240811782408Human1name
597663657CV3706023single nucleotide variantNM_001349206.2(LPIN1):c.1174C>G (p.Pro392Ala)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028789]uncertain significance21178241711782417Human1name
597752198CV3706024single nucleotide variantNM_001349206.2(LPIN1):c.1204C>A (p.Pro402Thr)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016032]uncertain significance21178244711782447Human1name
597752824CV3706025single nucleotide variantNM_001349206.2(LPIN1):c.1232C>G (p.Ala411Gly)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016033]uncertain significance21178247511782475Human1name
597663666CV3706026single nucleotide variantNM_001349206.2(LPIN1):c.1253C>G (p.Ser418Cys)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028790]uncertain significance21178249611782496Human1name
597752208CV3706027single nucleotide variantNM_001349206.2(LPIN1):c.1273A>G (p.Ser425Gly)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016034]uncertain significance21178383711783837Human1name
597663676CV3706028single nucleotide variantNM_001349206.2(LPIN1):c.1280A>G (p.His427Arg)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028791]uncertain significance21178384411783844Human1name
597752214CV3706029single nucleotide variantNM_001349206.2(LPIN1):c.1375C>T (p.Leu459Phe)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016035]uncertain significance21178490211784902Human1name
597752220CV3706031single nucleotide variantNM_001349206.2(LPIN1):c.1388C>T (p.Ala463Val)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016036]uncertain significance21178491511784915Human1name
597752225CV3706032single nucleotide variantNM_001349206.2(LPIN1):c.1395C>G (p.Asp465Glu)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016037]uncertain significance21178492211784922Human1name
597663692CV3706033single nucleotide variantNM_001349206.2(LPIN1):c.1465A>G (p.Ser489Gly)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028793]uncertain significance21178499211784992Human1name
597663700CV3706035single nucleotide variantNM_001349206.2(LPIN1):c.1502C>T (p.Ala501Val)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028794]uncertain significance21178502911785029Human1name
597663708CV3706036single nucleotide variantNM_001349206.2(LPIN1):c.1564C>G (p.Gln522Glu)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028795]uncertain significance21178708811787088Human1name
597752235CV3706038single nucleotide variantNM_001349206.2(LPIN1):c.1697A>G (p.Gln566Arg)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016040]uncertain significance21178844011788440Human1name
597752245CV3706042single nucleotide variantNM_001349206.2(LPIN1):c.1847G>A (p.Ser616Asn)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016042]uncertain significance21179544811795448Human1name
597752250CV3706043single nucleotide variantNM_001349206.2(LPIN1):c.1861C>T (p.Pro621Ser)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016043]uncertain significance21179546211795462Human1name
597663744CV3706045single nucleotide variantNM_001349206.2(LPIN1):c.1899A>C (p.Glu633Asp)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028799]uncertain significance21180291911802919Human1name
597752255CV3706046single nucleotide variantNM_001349206.2(LPIN1):c.1930G>T (p.Ala644Ser)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016044]uncertain significance21180295011802950Human1name
597752261CV3706048single nucleotide variantNM_001349206.2(LPIN1):c.1952A>T (p.His651Leu)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016045]uncertain significance21180297211802972Human1name
597752264CV3706049single nucleotide variantNM_001349206.2(LPIN1):c.1987A>G (p.Thr663Ala)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016046]uncertain significance21180300711803007Human1name
597752269CV3706050single nucleotide variantNM_001349206.2(LPIN1):c.2087G>T (p.Arg696Leu)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016047]uncertain significance21180449611804496Human1name
597752279CV3706052single nucleotide variantNM_001349206.2(LPIN1):c.2210C>T (p.Thr737Ile)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016049]uncertain significance21180511711805117Human1name
597752289CV3706056single nucleotide variantNM_001349206.2(LPIN1):c.2278G>T (p.Ala760Ser)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016051]uncertain significance21181511611815116Human1name
597663790CV3706057single nucleotide variantNM_001349206.2(LPIN1):c.2297C>T (p.Ala766Val)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028804]uncertain significance21181513511815135Human1name
597752294CV3706058single nucleotide variantNM_001349206.2(LPIN1):c.2309G>A (p.Arg770Gln)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016052]uncertain significance21181514711815147Human1name
597752305CV3706061single nucleotide variantNM_001349206.2(LPIN1):c.2518G>A (p.Asp840Asn)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016054]likely pathogenic21182041111820411Human1name
597752309CV3706062single nucleotide variantNM_001349206.2(LPIN1):c.2600A>G (p.His867Arg)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016055]uncertain significance21182049311820493Human1name
597752318CV3706064single nucleotide variantNM_001349206.2(LPIN1):c.2674A>C (p.Ser892Arg)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016057]uncertain significance21182468411824684Human1name
597663830CV3706065single nucleotide variantNM_001349206.2(LPIN1):c.2744C>T (p.Pro915Leu)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028808]uncertain significance21182475411824754Human1name
597663839CV3706066single nucleotide variantNM_001349206.2(LPIN1):c.2776G>T (p.Ala926Ser)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028809]uncertain significance21182478611824786Human1name
597965391CV3797122single nucleotide variantNM_001349206.2(LPIN1):c.1867C>T (p.Gln623Ter)not provided [RCV005140082]pathogenic21179546811795468Humanname
597950052CV3846844single nucleotide variantNM_001349206.2(LPIN1):c.2304G>C (p.Met768Ile)not provided [RCV005190015]uncertain significance21181514211815142Humanname
597874988CV3859703single nucleotide variantNM_001349206.2(LPIN1):c.1537G>T (p.Glu513Ter)not provided [RCV005198107]pathogenic21178506411785064Humanname
598238947CV3991916single nucleotide variantNM_001349206.2(LPIN1):c.1042A>T (p.Ser348Cys)Inborn genetic diseases [RCV005364341]uncertain significance21178228511782285Human1name
13475128CV442910single nucleotide variantNM_001349206.2(LPIN1):c.1583A>G (p.Gln528Arg)not provided [RCV000519813]uncertain significance21178710711787107Humanname
13478675CV442911single nucleotide variantNM_001349206.2(LPIN1):c.2365C>A (p.Leu789Met)Inborn genetic diseases [RCV004023568]|Myoglobinuria, acute recurrent, autosomal recessive [RCV005027610]|not provided [RCV000520738]|not specified [RCV000791073]uncertain significance21181520311815203Human2name
13486261CV442912single nucleotide variantNM_001349206.2(LPIN1):c.2680T>A (p.Ser894Thr)Myoglobinuria, acute recurrent, autosomal recessive [RCV005018899]|not provided [RCV000522852]uncertain significance21182469011824690Human1name
13515593CV493300single nucleotide variantNM_001349206.2(LPIN1):c.2434A>G (p.Lys812Glu)not provided [RCV000594469]uncertain significance21181951511819515Humanname
13832274CV582767single nucleotide variantNM_001349206.2(LPIN1):c.2237A>G (p.His746Arg)not provided [RCV000722960]uncertain significance21180514411805144Humanname
14702836CV653926single nucleotide variantNM_001349206.2(LPIN1):c.2518G>C (p.Asp840His)Myoglobinuria, acute recurrent, autosomal recessive [RCV000824910]uncertain significance21182041111820411Human1name
15149214CV707688single nucleotide variantNM_001349206.2(LPIN1):c.1922G>A (p.Arg641His)LPIN1-related disorder [RCV003936051]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001135323]|not provided [RCV000967711]likely benign|uncertain significance21180294211802942Human1name , trait , alternate_id
28892822CV858989single nucleotide variantNM_001349206.2(LPIN1):c.1129C>T (p.Gln377Ter)not provided [RCV001092529]pathogenic21178237211782372Humanname
28875242CV880929single nucleotide variantNM_001349206.2(LPIN1):c.1663G>A (p.Ala555Thr)Myoglobinuria, acute recurrent, autosomal recessive [RCV001133828]|not provided [RCV002556868]uncertain significance21178840611788406Human1name
28878828CV880930single nucleotide variantNM_001349206.2(LPIN1):c.1795A>G (p.Thr599Ala)Inborn genetic diseases [RCV003339514]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001135320]uncertain significance21179199511791995Human2name
28878834CV880931single nucleotide variantNM_001349206.2(LPIN1):c.1852G>A (p.Gly618Arg)Myoglobinuria, acute recurrent, autosomal recessive [RCV001135321]|not provided [RCV001732050]conflicting interpretations of pathogenicity|uncertain significance21179545311795453Human1name
28868871CV880932single nucleotide variantNM_001349206.2(LPIN1):c.1972G>A (p.Val658Ile)Inborn genetic diseases [RCV003363117]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001130279]|not provided [RCV001856691]conflicting interpretations of pathogenicity|uncertain significance21180299211802992Human2name
28868874CV880933single nucleotide variantNM_001349206.2(LPIN1):c.2030A>T (p.Lys677Met)Myoglobinuria, acute recurrent, autosomal recessive [RCV001130280]uncertain significance21180443911804439Human1name
28868879CV880935single nucleotide variantNM_001349206.2(LPIN1):c.2150G>T (p.Gly717Val)Myoglobinuria, acute recurrent, autosomal recessive [RCV001130283]uncertain significance21180455911804559Human1name
28868882CV880936single nucleotide variantNM_001349206.2(LPIN1):c.2168A>G (p.Asp723Gly)Inborn genetic diseases [RCV004639476]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001130284]uncertain significance21180507511805075Human2name
28868884CV880937single nucleotide variantNM_001349206.2(LPIN1):c.2342C>T (p.Thr781Met)Inborn genetic diseases [RCV002556832]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001130285]|not provided [RCV001873523]uncertain significance21181518011815180Human2name
28870071CV880939single nucleotide variantNM_001349206.2(LPIN1):c.2414A>G (p.Glu805Gly)Myoglobinuria, acute recurrent, autosomal recessive [RCV001130993]|not provided [RCV003574837]likely benign|uncertain significance21181949511819495Human1name
28870077CV880940single nucleotide variantNM_001349206.2(LPIN1):c.2609C>G (p.Thr870Ser)Myoglobinuria, acute recurrent, autosomal recessive [RCV001130994]uncertain significance21182050211820502Human1name
28870081CV880941single nucleotide variantNM_001349206.2(LPIN1):c.2674A>T (p.Ser892Cys)Myoglobinuria, acute recurrent, autosomal recessive [RCV001130995]uncertain significance21182468411824684Human1name
38464756CV961501single nucleotide variantNM_001349206.2(LPIN1):c.2219G>A (p.Gly740Asp)Myoglobinuria, acute recurrent, autosomal recessive [RCV001249734]uncertain significance21180512611805126Human1name
127270291CV1058909deletionNM_001349206.2(LPIN1):c.944_953del (p.Pro315fs)not provided [RCV001389793]pathogenic21177962711779636Humanname
11547339CV250099microsatelliteNM_001349206.2(LPIN1):c.958TCT[2] (p.Ser322del)Acute Recurrent Myoglobinuria [RCV000343678]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002227111]|not provided [RCV000955905]|not specified [RCV000247627]benign|likely benign21178220111782203Humanname
597752144CV3706007deletionNM_001349206.2(LPIN1):c.283_285del (p.Asp95del)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016021]uncertain significance21176785111767853Human1name
597663619CV3706013microsatelliteNM_001349206.2(LPIN1):c.704_705del (p.Glu235fs)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028785]likely pathogenic21177372311773724Humanname
155913524CV2021843deletionNM_001349206.2(LPIN1):c.1237_1238del (p.Lys413fs)not provided [RCV002726976]pathogenic21178248011782481Humanname
155993661CV2171402deletionNM_001349206.2(LPIN1):c.2055_2056del (p.Phe685fs)not provided [RCV003034446]pathogenic21180446411804465Humanname
11633857CV264027microsatelliteNM_001349206.2(LPIN1):c.1363_1364dup (p.Asp455fs)Myoglobinuria, acute recurrent, autosomal recessive [RCV004782335]|not provided [RCV000373103]pathogenic21178488711784888Humanname
597663753CV3706051deletionNM_001349206.2(LPIN1):c.2201_2204del (p.Lys734fs)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028800]likely pathogenic21180510511805108Human1name
597941512CV3785811deletionNM_001349206.2(LPIN1):c.1841_1845del (p.Ala614fs)not provided [RCV005133704]pathogenic21179544211795446Humanname
14702833CV653925duplicationNM_001349206.2(LPIN1):c.2057_2075dup (p.Gly693fs)Myoglobinuria, acute recurrent, autosomal recessive [RCV000824909]likely pathogenic21180446311804464Human1name
152999803CV1683363indelNM_001349206.2(LPIN1):c.824delinsAAA (p.Ser275Ter)See cases [RCV002252547]likely pathogenic21177618711776187Humanname
597663800CV3706059deletionNM_001349206.2(LPIN1):c.2329_2331del (p.Asn777del)Myoglobinuria, acute recurrent, autosomal recessive [RCV005028805]uncertain significance21181516611815168Human1name
597752299CV3706060indelNM_001349206.2(LPIN1):c.2509_2510delinsAA (p.Arg837Lys)Myoglobinuria, acute recurrent, autosomal recessive [RCV005016053]uncertain significance21181959011819591Humanname
155974272CV2062662duplicationNM_001349206.2(LPIN1):c.707_709dup (p.Trp236_Ser237insTrp)not provided [RCV002842218]uncertain significance21177372711773728Humanname
156261011CV2159533deletionNM_001349206.2(LPIN1):c.2019_2025del (p.Ser673_Leu674insTer)not provided [RCV003026659]pathogenic21180442511804431Humanname