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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


386 records found for search term Anxa11
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405292996CV3207155single nucleotide variantNM_145868.2(ANXA11):c.*4G>TANXA11-related disorder [RCV003931561]likely benign108015584980155849Humanname , trait , alternate_id
402506423CV3039157single nucleotide variantNM_145868.2(ANXA11):c.55+8G>Anot provided [RCV003715244]likely benign108017279980172799Humanname
408373470CV3515871single nucleotide variantNM_145868.2(ANXA11):c.55+5G>CANXA11-related disorder [RCV004744980]likely benign108017280280172802Humanname , trait , alternate_id
150510628CV1211801single nucleotide variantNM_145868.2(ANXA11):c.55+54G>AInclusion body myopathy and brain white matter abnormalities [RCV002260213]|not provided [RCV001597697]benign108017275380172753Human1name
150451969CV1220932single nucleotide variantNM_145868.2(ANXA11):c.-8-55G>AInclusion body myopathy and brain white matter abnormalities [RCV002260230]|not provided [RCV001612026]benign108017292480172924Human1name
151717553CV1334977single nucleotide variantNM_145868.2(ANXA11):c.744+3G>AAmyotrophic lateral sclerosis [RCV001843935]|not provided [RCV002543290]uncertain significance108016688780166887Human2name
152111487CV1537172single nucleotide variantNM_145868.2(ANXA11):c.171+9A>Gnot provided [RCV002215552]likely benign108017079180170791Humanname
152083430CV1576810single nucleotide variantNM_145868.2(ANXA11):c.858+9G>Anot provided [RCV002193321]likely benign108016607580166075Humanname
152173649CV1655690single nucleotide variantNM_145868.2(ANXA11):c.949+8C>TANXA11-related disorder [RCV003933665]|not provided [RCV002184246]likely benign108016404580164045Human1name , trait , alternate_id
156347453CV1995361single nucleotide variantNM_145868.2(ANXA11):c.744+2C>TAmyotrophic lateral sclerosis type 23 [RCV005370265]|not provided [RCV002650645]uncertain significance108016688880166888Human1name
156360765CV2003159single nucleotide variantNM_145868.2(ANXA11):c.744+9C>Tnot provided [RCV002676232]benign108016688180166881Humanname
156171397CV2041631single nucleotide variantNM_145868.2(ANXA11):c.650-4C>Tnot provided [RCV002741871]likely benign108016698880166988Humanname
405117867CV2949684single nucleotide variantNM_145868.2(ANXA11):c.650-2A>Gnot provided [RCV003667119]uncertain significance108016698680166986Humanname
405230593CV3153585single nucleotide variantNM_145868.2(ANXA11):c.55+18G>Cnot provided [RCV003848650]likely benign108017278980172789Humanname
402494198CV3182935single nucleotide variantNM_145868.2(ANXA11):c.171+1G>Anot provided [RCV003877243]uncertain significance108017079980170799Humanname
408378319CV3505193single nucleotide variantNM_145868.2(ANXA11):c.950-1G>CANXA11-related disorder [RCV004727932]|not provided [RCV005103618]uncertain significance108016361480163614Human1name , trait , alternate_id
408371884CV3508048single nucleotide variantNM_145868.2(ANXA11):c.561+4A>TANXA11-related disorder [RCV004741965]uncertain significance108016896580168965Humanname , trait , alternate_id
597655748CV3552280single nucleotide variantNM_145868.2(ANXA11):c.744+1G>AAmyotrophic lateral sclerosis type 23 [RCV004821138]pathogenic108016688980166889Human1name
597948160CV3771841single nucleotide variantNM_145868.2(ANXA11):c.562-7C>Tnot provided [RCV005120367]benign108016732080167320Humanname
597861671CV3813553single nucleotide variantNM_145868.2(ANXA11):c.56-17C>Gnot provided [RCV005146815]likely benign108017093280170932Humanname
597878716CV3813724single nucleotide variantNM_145868.2(ANXA11):c.650-8T>Gnot provided [RCV005149466]likely benign108016699280166992Humanname
597947271CV3817870single nucleotide variantNM_145868.2(ANXA11):c.55+19G>Anot provided [RCV005160337]likely benign108017278880172788Humanname
597893928CV3833503single nucleotide variantNM_145868.2(ANXA11):c.172-5T>Anot provided [RCV005180195]uncertain significance108016936380169363Humanname
15187010CV730714single nucleotide variantNM_145868.2(ANXA11):c.745-7C>GANXA11-related disorder [RCV003940572]|not provided [RCV000887137]benign|likely benign108016620480166204Human1name , trait , alternate_id
150510624CV1211799single nucleotide variantNM_145868.2(ANXA11):c.1181-5C>TInclusion body myopathy and brain white matter abnormalities [RCV002260212]|not provided [RCV001597695]benign108015920080159200Human1name
150473668CV1217668single nucleotide variantNM_145868.2(ANXA11):c.950-87C>GInclusion body myopathy and brain white matter abnormalities [RCV002260221]|not provided [RCV001615679]benign108016370080163700Human1name
150438750CV1221208single nucleotide variantNM_145868.2(ANXA11):c.-8-165A>Gnot provided [RCV001609902]benign108017303480173034Humanname
150483115CV1223536single nucleotide variantNM_145868.2(ANXA11):c.858+55G>AInclusion body myopathy and brain white matter abnormalities [RCV002260233]|not provided [RCV001617250]benign108016602980166029Human2name
150483115CV1223536single nucleotide variantNM_145868.2(ANXA11):c.858+55G>AInclusion body myopathy and brain white matter abnormalities [RCV002260233]|not provided [RCV001617250]benign108016602980166030Human2name
150435551CV1233885single nucleotide variantNM_145868.2(ANXA11):c.858+42C>TInclusion body myopathy and brain white matter abnormalities [RCV002260244]|not provided [RCV001644012]benign108016604280166042Human1name
150442439CV1249117single nucleotide variantNM_145868.2(ANXA11):c.650-10C>GInclusion body myopathy and brain white matter abnormalities [RCV002260283]|not provided [RCV001666549]benign108016699480166994Human1name
150471965CV1252170single nucleotide variantNM_145868.2(ANXA11):c.858+47G>AInclusion body myopathy and brain white matter abnormalities [RCV002260287]|not provided [RCV001671371]benign108016603780166037Human1name
150472934CV1259381single nucleotide variantNM_145868.2(ANXA11):c.859-60C>GInclusion body myopathy and brain white matter abnormalities [RCV002260317]|not provided [RCV001684627]benign108016420380164203Human1name
150437309CV1262284single nucleotide variantNM_145868.2(ANXA11):c.858+45G>AInclusion body myopathy and brain white matter abnormalities [RCV002260321]|not provided [RCV001678642]benign108016603980166039Human1name
150486777CV1262630duplicationNM_145868.2(ANXA11):c.745-40dupnot provided [RCV001687027]benign108016622680166227Humanname
150436593CV1270981single nucleotide variantNM_145868.2(ANXA11):c.859-62C>TInclusion body myopathy and brain white matter abnormalities [RCV002260354]|not provided [RCV001689531]benign108016420580164205Human1name
150473378CV1272160deletionNM_145868.2(ANXA11):c.745-30delInclusion body myopathy and brain white matter abnormalities [RCV002260351]|not provided [RCV001695698]benign108016622780166227Human1name
150449409CV1273629single nucleotide variantNM_145868.2(ANXA11):c.171+19C>TInclusion body myopathy and brain white matter abnormalities [RCV002260356]|not provided [RCV001691729]benign108017078180170781Human1name
150477675CV1279492single nucleotide variantNM_145868.2(ANXA11):c.171+95A>GInclusion body myopathy and brain white matter abnormalities [RCV002260376]|not provided [RCV001714165]benign108017070580170705Human1name
150492534CV1281192single nucleotide variantNM_145868.2(ANXA11):c.55+110G>Cnot provided [RCV001716832]benign108017269780172697Humanname
151810445CV1446530single nucleotide variantNM_145868.2(ANXA11):c.1180+5G>Anot provided [RCV002012382]uncertain significance108016193080161930Humanname
151871322CV1477060single nucleotide variantNM_145868.2(ANXA11):c.1086+4A>Tnot provided [RCV001906524]uncertain significance108016334580163345Humanname
152051623CV1521510single nucleotide variantNM_145868.2(ANXA11):c.1458+4C>Tnot provided [RCV002145759]benign108015763780157637Humanname
152103213CV1524030single nucleotide variantNM_145868.2(ANXA11):c.1087-8C>GANXA11-related disorder [RCV003923759]|not provided [RCV002133528]benign108016203680162036Human1name , trait , alternate_id
152110751CV1582015single nucleotide variantNM_145868.2(ANXA11):c.744+20C>Anot provided [RCV002080210]benign108016687080166870Human1name
152110751CV1582015single nucleotide variantNM_145868.2(ANXA11):c.744+20C>Anot provided [RCV002080210]benign108016687080166871Human1name
152160846CV1601822single nucleotide variantNM_145868.2(ANXA11):c.650-19C>Gnot provided [RCV002180907]likely benign108016700380167003Humanname
156402849CV1988744single nucleotide variantNM_145868.2(ANXA11):c.1181-4A>Gnot provided [RCV002605783]likely benign108015919980159199Humanname
156192907CV1994738single nucleotide variantNM_145868.2(ANXA11):c.561+14C>Tnot provided [RCV002643368]likely benign108016895580168955Humanname
156346257CV1995244single nucleotide variantNM_145868.2(ANXA11):c.1181-3T>Anot provided [RCV002650588]uncertain significance108015919880159198Humanname
156346663CV1995288single nucleotide variantNM_145868.2(ANXA11):c.650-12C>Tnot provided [RCV002650608]likely benign108016699680166996Humanname
156306871CV1999878single nucleotide variantNM_145868.2(ANXA11):c.561+15A>Cnot provided [RCV002671424]likely benign108016895480168954Humanname
156181849CV2001413single nucleotide variantNM_145868.2(ANXA11):c.1335+4T>Cnot provided [RCV002643047]uncertain significance108015796380157963Humanname
155914019CV2145142single nucleotide variantNM_145868.2(ANXA11):c.858+15G>Tnot provided [RCV002991533]likely benign108016606980166069Humanname
402522553CV2900143single nucleotide variantNM_145868.2(ANXA11):c.1458+7G>AANXA11-related disorder [RCV004741640]|not provided [RCV003575972]likely benign108015763480157634Human1name , trait , alternate_id
402512943CV2991351single nucleotide variantNM_145868.2(ANXA11):c.171+13C>Gnot provided [RCV003689702]likely benign108017078780170787Humanname
405042963CV3007716single nucleotide variantNM_145868.2(ANXA11):c.650-16C>Gnot provided [RCV003696463]likely benign108016700080167000Humanname
405121918CV3024683single nucleotide variantNM_145868.2(ANXA11):c.172-15T>Cnot provided [RCV003700848]likely benign108016937380169373Humanname
405229312CV3075539single nucleotide variantNM_145868.2(ANXA11):c.1087-1G>Anot provided [RCV003734617]uncertain significance108016202980162029Humanname
405121836CV3116643duplicationNM_145868.2(ANXA11):c.1181-9dupnot provided [RCV003814945]likely benign108015920380159204Humanname
405138775CV3130826single nucleotide variantNM_145868.2(ANXA11):c.1458+5G>Anot provided [RCV003839060]uncertain significance108015763680157636Humanname
405049449CV3150847single nucleotide variantNM_145868.2(ANXA11):c.562-17A>Gnot provided [RCV003849451]likely benign108016733080167330Humanname
405178181CV3151068single nucleotide variantNM_145868.2(ANXA11):c.1335+6T>Cnot provided [RCV003842152]uncertain significance108015796180157961Humanname
405167671CV3156853single nucleotide variantNM_145868.2(ANXA11):c.649+11C>Anot provided [RCV003857557]likely benign108016721580167215Humanname
405080306CV3166715single nucleotide variantNM_145868.2(ANXA11):c.1180+7C>Tnot provided [RCV003851489]likely benign108016192880161928Humanname
402475889CV3173648single nucleotide variantNM_145868.2(ANXA11):c.744+15G>Tnot provided [RCV003875186]likely benign108016687580166875Humanname
405287190CV3217286single nucleotide variantNM_145868.2(ANXA11):c.744+10G>AANXA11-related disorder [RCV003981822]|not provided [RCV005103091]likely benign108016688080166880Human1name , trait , alternate_id
597962629CV3809220single nucleotide variantNM_145868.2(ANXA11):c.1086+2T>Cnot provided [RCV005164122]uncertain significance108016334780163347Humanname
597892274CV3822879single nucleotide variantNM_145868.2(ANXA11):c.1459-3C>Tnot provided [RCV005179955]uncertain significance108015591580155915Humanname
597832085CV3830902single nucleotide variantNM_145868.2(ANXA11):c.858+19G>Anot provided [RCV005170300]likely benign108016606580166065Humanname
597959961CV3843508single nucleotide variantNM_145868.2(ANXA11):c.1030-3C>Gnot provided [RCV005192545]uncertain significance108016340880163408Humanname
150507994CV1227026single nucleotide variantNM_145868.2(ANXA11):c.859-156T>Cnot provided [RCV001636099]benign108016429980164299Humanname
150515110CV1228734single nucleotide variantNM_145868.2(ANXA11):c.744+108G>Anot provided [RCV001638723]benign108016678280166782Humanname
150454634CV1232310single nucleotide variantNM_145868.2(ANXA11):c.1335+15T>CInclusion body myopathy and brain white matter abnormalities [RCV002260252]|not provided [RCV001648323]benign108015795280157952Human1name
150512159CV1242893single nucleotide variantNM_145868.2(ANXA11):c.1030-44A>CInclusion body myopathy and brain white matter abnormalities [RCV002260266]|not provided [RCV001661247]benign108016344980163449Human1name
150452985CV1255033single nucleotide variantNM_145868.2(ANXA11):c.1276+80G>TInclusion body myopathy and brain white matter abnormalities [RCV002260296]|not provided [RCV001668092]benign108015902080159020Human1name
150493541CV1257576single nucleotide variantNM_145868.2(ANXA11):c.171+114G>Tnot provided [RCV001675249]benign108017068680170686Humanname
150441444CV1265557single nucleotide variantNM_145868.2(ANXA11):c.745-218T>Cnot provided [RCV001679261]benign108016641580166415Humanname
150443510CV1266406single nucleotide variantNM_145868.2(ANXA11):c.562-150G>Anot provided [RCV001690842]benign108016746380167463Humanname
150508842CV1284384single nucleotide variantNM_145868.2(ANXA11):c.1087-26A>GInclusion body myopathy and brain white matter abnormalities [RCV002260393]|not provided [RCV001720492]benign108016205480162054Human1name
152061945CV1559410single nucleotide variantNM_145868.2(ANXA11):c.1030-15C>Tnot provided [RCV002168103]likely benign108016342080163420Humanname
152032937CV1610245single nucleotide variantNM_145868.2(ANXA11):c.1335+17T>Gnot provided [RCV002124844]benign108015795080157950Humanname
152103719CV1645344single nucleotide variantNM_145868.2(ANXA11):c.1087-18G>Anot provided [RCV002133586]likely benign108016204680162046Humanname
152145270CV1661558single nucleotide variantNM_145868.2(ANXA11):c.1336-20C>Tnot provided [RCV002157333]likely benign108015778380157783Humanname
153000727CV1685606single nucleotide variantNM_145868.2(ANXA11):c.1458+77C>TInclusion body myopathy and brain white matter abnormalities [RCV002260424]benign108015756480157564Human1name
153000729CV1685607single nucleotide variantNM_145868.2(ANXA11):c.1335+94A>GInclusion body myopathy and brain white matter abnormalities [RCV002260425]benign108015787380157873Human1name
156130000CV2002058single nucleotide variantNM_145868.2(ANXA11):c.1086+20C>Anot provided [RCV002663184]likely benign108016332980163329Humanname
156331247CV2004424single nucleotide variantNM_145868.2(ANXA11):c.1030-17C>Tnot provided [RCV002649830]likely benign108016342280163422Humanname
155957585CV2033512single nucleotide variantNM_145868.2(ANXA11):c.1029+14G>Anot provided [RCV002731010]likely benign108016352080163520Humanname
156085937CV2034059single nucleotide variantNM_145868.2(ANXA11):c.1180+11C>Tnot provided [RCV002760777]likely benign|uncertain significance108016192480161924Humanname
405038348CV2932907single nucleotide variantNM_145868.2(ANXA11):c.1029+12A>Gnot provided [RCV003578812]likely benign108016352280163522Humanname
405212641CV3142696single nucleotide variantNM_145868.2(ANXA11):c.1459-18C>Tnot provided [RCV003846053]likely benign108015593080155930Humanname
405161513CV3159955single nucleotide variantNM_145868.2(ANXA11):c.1277-18C>Tnot provided [RCV003857026]likely benign108015804380158043Humanname
597883790CV3834819single nucleotide variantNM_145868.2(ANXA11):c.1030-14C>Tnot provided [RCV005178542]likely benign108016341980163419Humanname
150517299CV1226747single nucleotide variantNM_145868.2(ANXA11):c.1277-176A>Gnot provided [RCV001639841]benign108015820180158201Humanname
150512203CV1228449deletionNM_145868.2(ANXA11):c.1086+165delnot provided [RCV001637581]benign108016318480163184Humanname
150435351CV1233838microsatelliteNM_145868.2(ANXA11):c.858+42CG[2]Inclusion body myopathy and brain white matter abnormalities [RCV002260243]|not provided [RCV001643965]benign108016603780166038Humanname
150478333CV1240175single nucleotide variantNM_145868.2(ANXA11):c.1459-122A>Gnot provided [RCV001652353]benign108015603480156034Humanname
150470586CV1258614single nucleotide variantNM_145868.2(ANXA11):c.1180+138A>Gnot provided [RCV001684159]benign108016179780161797Humanname
150447645CV1261848single nucleotide variantNM_145868.2(ANXA11):c.1086+134C>Tnot provided [RCV001680232]benign108016321580163215Humanname
150446243CV1271841single nucleotide variantNM_145868.2(ANXA11):c.1087-134A>Gnot provided [RCV001691255]benign108016216280162162Humanname
597906314CV3804031deletionNM_145868.2(ANXA11):c.561+4_561+7delnot provided [RCV005153577]uncertain significance108016896280168965Humanname
408372031CV3517838deletionNM_145868.2(ANXA11):c.562-12_562-9delANXA11-related disorder [RCV004742169]likely benign108016732280167325Humanname , trait , alternate_id
150504127CV1212620deletionNM_145868.2(ANXA11):c.858+30_858+43delnot provided [RCV001595495]benign108016604180166054Humanname
150474368CV1234439deletionNM_145868.2(ANXA11):c.858+34_858+43delnot provided [RCV001651759]benign108016604180166050Humanname
150468274CV1267913deletionNM_145868.2(ANXA11):c.858+32_858+43delnot provided [RCV001694776]benign108016604180166052Humanname
151761987CV1455964single nucleotide variantNM_145868.2(ANXA11):c.6C>G (p.Ser2Arg)not provided [RCV002044388]uncertain significance108017285680172856Humanname
152057925CV1656606single nucleotide variantNM_145868.2(ANXA11):c.93G>A (p.Pro31=)ANXA11-related disorder [RCV003970891]|not provided [RCV002109771]likely benign108017087880170878Human1name , trait , alternate_id
401907685CV2800198single nucleotide variantNM_145868.2(ANXA11):c.3G>A (p.Met1Ile)ANXA11-related disorder [RCV003397333]|not provided [RCV005104289]uncertain significance108017285980172859Human1name , trait , alternate_id
405294596CV3204109duplicationNM_145868.2(ANXA11):c.-1dup (p.Met1fs)ANXA11-related disorder [RCV003934543]likely benign108017286180172862Humanname , trait , alternate_id
151832914CV1475328deletionNM_145868.2(ANXA11):c.24del (p.Pro10fs)not provided [RCV001993887]uncertain significance108017283880172838Humanname
152141877CV1629014single nucleotide variantNM_145868.2(ANXA11):c.23C>T (p.Pro8Leu)ANXA11-related disorder [RCV003933394]|not provided [RCV002100888]benign108017283980172839Human1name , trait , alternate_id
152092003CV1631726single nucleotide variantNM_145868.2(ANXA11):c.264C>T (p.Gly88=)ANXA11-related disorder [RCV003951108]|not provided [RCV002132159]benign|likely benign108016926680169266Human1name , trait , alternate_id
152172261CV1650644single nucleotide variantNM_145868.2(ANXA11):c.174G>A (p.Ala58=)ANXA11-related disorder [RCV003968727]|not provided [RCV002162393]likely benign108016935680169356Human1name , trait , alternate_id
156390979CV1869935single nucleotide variantNM_145868.2(ANXA11):c.174G>C (p.Ala58=)not provided [RCV003068016]likely benign108016935680169356Humanname
156221756CV1899840single nucleotide variantNM_145868.2(ANXA11):c.111C>T (p.Ile37=)not provided [RCV003085025]likely benign108017086080170860Humanname
156403248CV1908576single nucleotide variantNM_145868.2(ANXA11):c.222C>T (p.Tyr74=)ANXA11-related disorder [RCV004744593]|not provided [RCV002605860]likely benign108016930880169308Human1name , trait , alternate_id
156351011CV2122274single nucleotide variantNM_145868.2(ANXA11):c.123C>T (p.Asn41=)ANXA11-related disorder [RCV004744499]|not provided [RCV002966296]likely benign108017084880170848Human1name , trait , alternate_id
402504053CV2947419single nucleotide variantNM_145868.2(ANXA11):c.246C>T (p.Tyr82=)not provided [RCV003661896]likely benign108016928480169284Humanname
597939013CV3756750single nucleotide variantNM_145868.2(ANXA11):c.135T>C (p.Tyr45=)not provided [RCV005077131]likely benign108017083680170836Humanname
597976387CV3829615single nucleotide variantNM_145868.2(ANXA11):c.279C>T (p.Pro93=)not provided [RCV005169882]likely benign108016925180169251Humanname
126736818CV1017330duplicationNM_145868.2(ANXA11):c.282dup (p.Ser95fs)ANXA11-related disorder [RCV003911069]|not provided [RCV001871242]pathogenic|uncertain significance108016924780169248Human1name , trait , alternate_id
150470477CV1248000single nucleotide variantNM_145868.2(ANXA11):c.390C>T (p.Gly130=)Inclusion body myopathy and brain white matter abnormalities [RCV002260280]|not provided [RCV001671036]benign108016914080169140Human1name
150508838CV1284383single nucleotide variantNM_145868.2(ANXA11):c.672T>C (p.Ile224=)Inclusion body myopathy and brain white matter abnormalities [RCV002260392]|not provided [RCV001720491]benign108016696280166962Human1name
151721852CV1389072single nucleotide variantNM_145868.2(ANXA11):c.654G>A (p.Thr218=)ANXA11-related disorder [RCV003948866]|not provided [RCV002040200]likely benign|uncertain significance108016698080166980Human1name , trait , alternate_id
152167088CV1524553single nucleotide variantNM_145868.2(ANXA11):c.474G>T (p.Val158=)not provided [RCV002142070]benign108016905680169056Humanname
152136255CV1560595single nucleotide variantNM_145868.2(ANXA11):c.774G>A (p.Leu258=)not provided [RCV002137581]likely benign108016616880166168Humanname
152088323CV1562905single nucleotide variantNM_145868.2(ANXA11):c.303T>C (p.Pro101=)ANXA11-related disorder [RCV003933542]|not provided [RCV002113724]benign108016922780169227Human1name , trait , alternate_id
152104497CV1570234single nucleotide variantNM_145868.2(ANXA11):c.408C>T (p.Pro136=)not provided [RCV002195974]benign108016912280169122Humanname
152166772CV1597206single nucleotide variantNM_145868.2(ANXA11):c.795A>G (p.Thr265=)ANXA11-related disorder [RCV003971191]|not provided [RCV002204514]likely benign108016614780166147Human1name , trait , alternate_id
152097812CV1611600single nucleotide variantNM_145868.2(ANXA11):c.618C>T (p.Ala206=)ANXA11-related disorder [RCV004744233]|not provided [RCV002172702]benign|likely benign108016725780167257Human1name , trait , alternate_id
152034955CV1639623single nucleotide variantNM_145868.2(ANXA11):c.531G>A (p.Gly177=)not provided [RCV002187341]benign108016899980168999Humanname
152120339CV1657457single nucleotide variantNM_145868.2(ANXA11):c.984C>T (p.Ser328=)not provided [RCV002216688]likely benign108016357980163579Humanname
152113154CV1659402single nucleotide variantNM_145868.2(ANXA11):c.456C>T (p.Tyr152=)Inclusion body myopathy and brain white matter abnormalities [RCV002260410]|not provided [RCV002080527]benign|likely benign108016907480169074Human1name
156413601CV1901007single nucleotide variantNM_145868.2(ANXA11):c.450G>A (p.Val150=)not provided [RCV002588213]likely benign108016908080169080Humanname
156193103CV1904300single nucleotide variantNM_145868.2(ANXA11):c.732G>T (p.Thr244=)not provided [RCV002574477]likely benign108016690280166902Humanname
155985150CV1979554single nucleotide variantNM_145868.2(ANXA11):c.504G>A (p.Pro168=)ANXA11-related disorder [RCV003926423]|not provided [RCV002617775]likely benign108016902680169026Human1name , trait , alternate_id
156219186CV1995645single nucleotide variantNM_145868.2(ANXA11):c.897C>T (p.Leu299=)not provided [RCV002667160]likely benign108016410580164105Humanname
156125832CV2012382single nucleotide variantNM_145868.2(ANXA11):c.969A>G (p.Glu323=)not provided [RCV002696216]likely benign108016359480163594Humanname
156276577CV2015057single nucleotide variantNM_145868.2(ANXA11):c.585T>C (p.Thr195=)not provided [RCV002715158]likely benign108016729080167290Humanname
156037799CV2030102deletionNM_145868.2(ANXA11):c.1030-22_1030-20delnot provided [RCV002736066]likely benign108016342580163427Humanname
156294967CV2065262single nucleotide variantNM_145868.2(ANXA11):c.522G>A (p.Pro174=)not provided [RCV002856902]likely benign108016900880169008Humanname
156030423CV2105550single nucleotide variantNM_145868.2(ANXA11):c.363G>A (p.Pro121=)not provided [RCV002910042]likely benign108016916780169167Humanname
156159533CV2118591single nucleotide variantNM_145868.2(ANXA11):c.738C>T (p.Tyr246=)not provided [RCV002929191]likely benign|conflicting interpretations of pathogenicity|uncertain significance108016689680166896Humanname
156030691CV2141995single nucleotide variantNM_145868.2(ANXA11):c.74G>A (p.Gly25Asp)Inborn genetic diseases [RCV003170792]|not provided [RCV002976590]uncertain significance108017089780170897Human1name
156010740CV2362162single nucleotide variantNM_145868.2(ANXA11):c.89C>G (p.Pro30Arg)Inborn genetic diseases [RCV002997795]|not provided [RCV003561150]uncertain significance108017088280170882Human1name
401766382CV2725473single nucleotide variantNM_145868.2(ANXA11):c.67T>C (p.Trp23Arg)Inborn genetic diseases [RCV003282539]uncertain significance108017090480170904Human1name
402494711CV2978522single nucleotide variantNM_145868.2(ANXA11):c.378C>T (p.Ala126=)not provided [RCV003714131]likely benign108016915280169152Humanname
405128705CV3014090single nucleotide variantNM_145868.2(ANXA11):c.594C>T (p.Pro198=)not provided [RCV003701473]likely benign108016728180167281Humanname
405196098CV3037661single nucleotide variantNM_145868.2(ANXA11):c.732G>A (p.Thr244=)not provided [RCV003706928]likely benign108016690280166902Humanname
405213895CV3142796single nucleotide variantNM_145868.2(ANXA11):c.972G>A (p.Glu324=)not provided [RCV003846154]likely benign108016359180163591Humanname
402473110CV3172107single nucleotide variantNM_145868.2(ANXA11):c.906C>T (p.Arg302=)not provided [RCV003874710]likely benign108016409680164096Humanname
402493563CV3182593single nucleotide variantNM_145868.2(ANXA11):c.990A>T (p.Thr330=)not provided [RCV003877080]likely benign108016357380163573Humanname
408382279CV3504390single nucleotide variantNM_145868.2(ANXA11):c.387G>A (p.Pro129=)ANXA11-related disorder [RCV004729734]|not provided [RCV005103631]likely benign108016914380169143Human1name , trait , alternate_id
408372795CV3512851single nucleotide variantNM_145868.2(ANXA11):c.993A>G (p.Ser331=)ANXA11-related disorder [RCV004743929]likely benign108016357080163570Humanname , trait , alternate_id
408372052CV3517995single nucleotide variantNM_145868.2(ANXA11):c.867C>T (p.Gly289=)ANXA11-related disorder [RCV004742191]likely benign108016413580164135Humanname , trait , alternate_id
597971377CV3750710single nucleotide variantNM_145868.2(ANXA11):c.600T>C (p.Phe200=)not provided [RCV005084454]likely benign108016727580167275Humanname
597831160CV3750834single nucleotide variantNM_145868.2(ANXA11):c.648C>T (p.Phe216=)not provided [RCV005084578]uncertain significance108016722780167227Humanname
597836822CV3761395single nucleotide variantNM_145868.2(ANXA11):c.885G>T (p.Leu295=)not provided [RCV005085766]likely benign108016411780164117Humanname
597933787CV3776953single nucleotide variantNM_145868.2(ANXA11):c.411A>G (p.Gly137=)not provided [RCV005117112]likely benign108016911980169119Humanname
597884158CV3780543single nucleotide variantNM_145868.2(ANXA11):c.52C>T (p.Pro18Ser)not provided [RCV005124671]uncertain significance108017281080172810Humanname
597899171CV3826737deletionNM_145868.2(ANXA11):c.1459-18_1459-15delnot provided [RCV005180870]likely benign108015592780155930Humanname
151783028CV1347517duplicationNM_145868.2(ANXA11):c.408dup (p.Gly137fs)not provided [RCV002046343]uncertain significance108016912180169122Humanname
151878001CV1350245single nucleotide variantNM_145868.2(ANXA11):c.102G>A (p.Met34Ile)not provided [RCV002036492]uncertain significance108017086980170869Humanname
151744114CV1408627single nucleotide variantNM_145868.2(ANXA11):c.158A>G (p.Tyr53Cys)ANXA11-related disorder [RCV003893067]|Inborn genetic diseases [RCV004045978]|not provided [RCV002042539]uncertain significance108017081380170813Human2name , trait , alternate_id
151715808CV1441725single nucleotide variantNM_145868.2(ANXA11):c.113G>A (p.Gly38Glu)Inborn genetic diseases [RCV002579570]|not provided [RCV002002905]uncertain significance108017085880170858Human1name
151833088CV1446558single nucleotide variantNM_145868.2(ANXA11):c.160C>T (p.Leu54Phe)not provided [RCV002030996]uncertain significance108017081180170811Humanname
151828195CV1468424single nucleotide variantNM_145868.2(ANXA11):c.124G>A (p.Val42Met)ANXA11-related disorder [RCV003911143]|not provided [RCV002030539]uncertain significance108017084780170847Human1name , trait , alternate_id
151891184CV1473356single nucleotide variantNM_145868.2(ANXA11):c.107C>A (p.Pro36His)not provided [RCV001888629]uncertain significance108017086480170864Humanname
152094825CV1520977single nucleotide variantNM_145868.2(ANXA11):c.1425G>A (p.Arg475=)not provided [RCV002078196]likely benign108015767480157674Humanname
152167122CV1524564single nucleotide variantNM_145868.2(ANXA11):c.1068C>T (p.Leu356=)not provided [RCV002142080]benign108016336780163367Humanname
152101477CV1540208single nucleotide variantNM_145868.2(ANXA11):c.1131C>G (p.Ser377=)not provided [RCV002095590]likely benign108016198480161984Humanname
152072502CV1551653single nucleotide variantNM_145868.2(ANXA11):c.1143G>A (p.Ala381=)not provided [RCV002075294]likely benign108016197280161972Humanname
152117170CV1553638single nucleotide variantNM_145868.2(ANXA11):c.1311G>A (p.Ala437=)ANXA11-related disorder [RCV003893234]|not provided [RCV002081051]benign|likely benign108015799180157991Human1name , trait , alternate_id
152138369CV1563519single nucleotide variantNM_145868.2(ANXA11):c.1167C>T (p.Ala389=)not provided [RCV002200257]likely benign108016194880161948Humanname
152079396CV1579856single nucleotide variantNM_145868.2(ANXA11):c.1252C>T (p.Leu418=)ANXA11-related disorder [RCV003933513]|not provided [RCV002076168]benign|likely benign108015912480159124Human1name , trait , alternate_id
152054322CV1609978single nucleotide variantNM_145868.2(ANXA11):c.1164G>A (p.Arg388=)not provided [RCV002167247]likely benign108016195180161951Humanname
152034535CV1610610single nucleotide variantNM_145868.2(ANXA11):c.191C>T (p.Thr64Ile)ANXA11-related disorder [RCV003978742]|not provided [RCV002125112]benign108016933980169339Human1name , trait , alternate_id
152142242CV1629078single nucleotide variantNM_145868.2(ANXA11):c.265G>A (p.Gly89Ser)ANXA11-related disorder [RCV003903336]|not provided [RCV002100934]benign|likely benign108016926580169265Human1name , trait , alternate_id
152034929CV1639612single nucleotide variantNM_145868.2(ANXA11):c.1224G>A (p.Lys408=)not provided [RCV002187337]benign108015915280159152Humanname
155265998CV1704875deletionNM_145868.2(ANXA11):c.607del (p.Leu203fs)Amyotrophic lateral sclerosis type 23 [RCV002285120]uncertain significance108016726880167268Human1name
155968845CV1888789single nucleotide variantNM_145868.2(ANXA11):c.1245C>T (p.Ser415=)not provided [RCV003075075]likely benign108015913180159131Humanname
156057687CV1892162single nucleotide variantNM_145868.2(ANXA11):c.259C>A (p.Pro87Thr)not provided [RCV003079107]uncertain significance108016927180169271Humanname
156280757CV1922502single nucleotide variantNM_145868.2(ANXA11):c.1098G>A (p.Ala366=)not provided [RCV002628422]likely benign108016201780162017Humanname
156444341CV1938199single nucleotide variantNM_145868.2(ANXA11):c.1005G>A (p.Gln335=)not provided [RCV003115265]likely benign|uncertain significance108016355880163558Humanname
156398978CV1984739single nucleotide variantNM_145868.2(ANXA11):c.1449C>T (p.His483=)not provided [RCV002605419]likely benign108015765080157650Humanname
156314772CV2017915single nucleotide variantNM_145868.2(ANXA11):c.1092G>A (p.Leu364=)not provided [RCV002671839]likely benign108016202380162023Humanname
156311678CV2031604single nucleotide variantNM_145868.2(ANXA11):c.1443G>A (p.Leu481=)not provided [RCV002716575]likely benign108015765680157656Humanname
156205154CV2034915single nucleotide variantNM_145868.2(ANXA11):c.1218T>C (p.Ile406=)not provided [RCV002766389]likely benign108015915880159158Humanname
156126075CV2036320single nucleotide variantNM_145868.2(ANXA11):c.1119A>G (p.Gly373=)not provided [RCV002785982]likely benign108016199680161996Humanname
156163695CV2045021single nucleotide variantNM_145868.2(ANXA11):c.1098G>T (p.Ala366=)not provided [RCV002741637]likely benign108016201780162017Humanname
156288601CV2068681single nucleotide variantNM_145868.2(ANXA11):c.164C>T (p.Ser55Leu)Inborn genetic diseases [RCV002835068]|not provided [RCV002856656]uncertain significance108017080780170807Human1name
156208269CV2076823single nucleotide variantNM_145868.2(ANXA11):c.289C>T (p.Gln97Ter)not provided [RCV002852725]uncertain significance108016924180169241Humanname
156034289CV2112638single nucleotide variantNM_145868.2(ANXA11):c.1302C>G (p.Ala434=)not provided [RCV002910203]benign108015800080158000Humanname
155924864CV2144976single nucleotide variantNM_145868.2(ANXA11):c.1095T>C (p.Tyr365=)not provided [RCV003013357]likely benign108016202080162020Humanname
156017259CV2177607single nucleotide variantNM_145868.2(ANXA11):c.155A>G (p.Asp52Gly)not provided [RCV003035548]uncertain significance108017081680170816Humanname
156397459CV2200535single nucleotide variantNM_145868.2(ANXA11):c.190A>G (p.Thr64Ala)ANXA11-related disorder [RCV003427587]|Inborn genetic diseases [RCV002655131]|not provided [RCV003546863]uncertain significance108016934080169340Human2name , trait , alternate_id
155967992CV2265834single nucleotide variantNM_145868.2(ANXA11):c.100A>C (p.Met34Leu)Inborn genetic diseases [RCV002817444]uncertain significance108017087180170871Human1name
156145338CV2358731single nucleotide variantNM_145868.2(ANXA11):c.130A>G (p.Thr44Ala)Inborn genetic diseases [RCV003004215]|not provided [RCV005099019]uncertain significance108017084180170841Human1name
401740265CV2684312single nucleotide variantNM_145868.2(ANXA11):c.173C>T (p.Ala58Val)ANXA11-related disorder [RCV004741581]|Inborn genetic diseases [RCV003240617]uncertain significance108016935780169357Human2name , trait , alternate_id
401912237CV2796094single nucleotide variantNM_145868.2(ANXA11):c.100A>G (p.Met34Val)ANXA11-related disorder [RCV003399790]|Inborn genetic diseases [RCV005377360]uncertain significance108017087180170871Human2name , trait , alternate_id
405189463CV2968430single nucleotide variantNM_145868.2(ANXA11):c.1149G>T (p.Leu383=)not provided [RCV003677068]likely benign108016196680161966Humanname
405241836CV2970895single nucleotide variantNM_145868.2(ANXA11):c.149A>G (p.Asn50Ser)not provided [RCV003684209]uncertain significance108017082280170822Humanname
405233901CV2981932single nucleotide variantNM_145868.2(ANXA11):c.1311G>C (p.Ala437=)not provided [RCV003711971]likely benign108015799180157991Humanname
405040707CV3007411single nucleotide variantNM_145868.2(ANXA11):c.230C>A (p.Ala77Asp)not provided [RCV003696300]uncertain significance108016930080169300Humanname
405043731CV3007715single nucleotide variantNM_145868.2(ANXA11):c.118G>A (p.Asp40Asn)not provided [RCV003696462]uncertain significance108017085380170853Humanname
405178797CV3027611single nucleotide variantNM_145868.2(ANXA11):c.1404C>T (p.Asp468=)not provided [RCV003705336]likely benign108015769580157695Humanname
405216277CV3055633single nucleotide variantNM_145868.2(ANXA11):c.103C>G (p.Pro35Ala)not provided [RCV003732696]likely benign108017086880170868Humanname
405229318CV3072717single nucleotide variantNM_145868.2(ANXA11):c.137C>T (p.Ala46Val)not provided [RCV003734618]uncertain significance108017083480170834Humanname
405228175CV3143013single nucleotide variantNM_145868.2(ANXA11):c.253G>A (p.Val85Met)not provided [RCV003848356]uncertain significance108016927780169277Humanname
405101642CV3144331single nucleotide variantNM_145868.2(ANXA11):c.238G>A (p.Ala80Thr)not provided [RCV003852784]uncertain significance108016929280169292Humanname
405199507CV3164582single nucleotide variantNM_145868.2(ANXA11):c.103C>T (p.Pro35Ser)not provided [RCV003860639]uncertain significance108017086880170868Humanname
405696402CV3278797single nucleotide variantNM_145868.2(ANXA11):c.183G>A (p.Met61Ile)Inborn genetic diseases [RCV004424618]uncertain significance108016934780169347Human1name
408372426CV3510198single nucleotide variantNM_145868.2(ANXA11):c.1114C>T (p.Leu372=)ANXA11-related disorder [RCV004743019]likely benign108016200180162001Humanname , trait , alternate_id
408373585CV3516187single nucleotide variantNM_145868.2(ANXA11):c.1245C>G (p.Ser415=)ANXA11-related disorder [RCV004745035]likely benign108015913180159131Humanname , trait , alternate_id
596926682CV3542358single nucleotide variantNM_145868.2(ANXA11):c.1089G>A (p.Glu363=)Inclusion body myopathy and brain white matter abnormalities [RCV004796574]uncertain significance108016202680162026Human1name
597868804CV3749711single nucleotide variantNM_145868.2(ANXA11):c.1281A>G (p.Lys427=)not provided [RCV005068392]likely benign108015802180158021Humanname
597838333CV3758181single nucleotide variantNM_145868.2(ANXA11):c.212C>T (p.Pro71Leu)not provided [RCV005086015]uncertain significance108016931880169318Humanname
597975382CV3832367single nucleotide variantNM_145868.2(ANXA11):c.158A>C (p.Tyr53Ser)not provided [RCV005169104]uncertain significance108017081380170813Humanname
597932957CV3844578single nucleotide variantNM_145868.2(ANXA11):c.1140T>C (p.Asn380=)not provided [RCV005186085]likely benign108016197580161975Humanname
13508625CV481193single nucleotide variantNM_145868.2(ANXA11):c.119A>G (p.Asp40Gly)ANXA11-related disorder [RCV003403366]|Amyotrophic lateral sclerosis type 23 [RCV000578138]|not provided [RCV001853834]pathogenic108017085280170852Human1name , trait , alternate_id
13508626CV481194single nucleotide variantNM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)ANXA11-related disorder [RCV003962641]|Amyotrophic lateral sclerosis [RCV003105971]|Amyotrophic lateral sclerosis type 23 [RCV000578149]|not provided [RCV001860003]pathogenic|likely pathogenic108017085980170859Human3name , trait , alternate_id
15107360CV768008deletionNM_145868.2(ANXA11):c.408del (p.Gly137fs)Inborn genetic diseases [RCV002544533]|not provided [RCV000937954]likely benign|conflicting interpretations of pathogenicity108016912280169122Human1name
21071939CV790985single nucleotide variantNM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr)Amyotrophic lateral sclerosis type 23 [RCV000988396]|Inclusion body myopathy and brain white matter abnormalities [RCV001836926]|not provided [RCV002549708]pathogenic|likely pathogenic108017085380170853Human2name
150464835CV1215340single nucleotide variantNM_145868.2(ANXA11):c.572G>A (p.Arg191Gln)Inclusion body myopathy and brain white matter abnormalities [RCV002260225]|not provided [RCV001614039]benign108016730380167303Human1name
150438961CV1286974single nucleotide variantNM_145868.2(ANXA11):c.688C>T (p.Arg230Cys)Inclusion body myopathy and brain white matter abnormalities [RCV002260398]|not provided [RCV001724889]benign108016694680166946Human2name
151806772CV1340287single nucleotide variantNM_145868.2(ANXA11):c.814A>T (p.Thr272Ser)not provided [RCV001867625]uncertain significance108016612880166128Humanname
151761203CV1349583single nucleotide variantNM_145868.2(ANXA11):c.670A>G (p.Ile224Val)Inborn genetic diseases [RCV004955934]|not provided [RCV001949163]uncertain significance108016696480166964Human1name
151758215CV1349817single nucleotide variantNM_145868.2(ANXA11):c.566G>A (p.Gly189Glu)ANXA11-related disorder [RCV003941244]|not provided [RCV001986964]uncertain significance108016730980167309Human1name , trait , alternate_id
151838092CV1350203single nucleotide variantNM_145868.2(ANXA11):c.510C>A (p.Tyr170Ter)not provided [RCV002015013]uncertain significance108016902080169020Humanname
151783692CV1350215single nucleotide variantNM_145868.2(ANXA11):c.548T>C (p.Val183Ala)not provided [RCV001989368]uncertain significance108016898280168982Humanname
151805101CV1363099single nucleotide variantNM_145868.2(ANXA11):c.739G>A (p.Gly247Ser)Inborn genetic diseases [RCV005375002]|not provided [RCV002028452]uncertain significance108016689580166895Human1name
151751160CV1370648single nucleotide variantNM_145868.2(ANXA11):c.517T>C (p.Tyr173His)Inborn genetic diseases [RCV004953182]|not provided [RCV001872265]uncertain significance108016901380169013Human1name
151801390CV1373269single nucleotide variantNM_145868.2(ANXA11):c.451A>G (p.Thr151Ala)not provided [RCV001932344]uncertain significance108016907980169079Humanname
151830899CV1384512single nucleotide variantNM_145868.2(ANXA11):c.922C>T (p.Arg308Ter)not provided [RCV001955670]uncertain significance108016408080164080Humanname
151736352CV1387754single nucleotide variantNM_145868.2(ANXA11):c.649G>A (p.Gly217Arg)not provided [RCV002005345]uncertain significance108016722680167226Humanname
151744971CV1406951single nucleotide variantNM_145868.2(ANXA11):c.988A>G (p.Thr330Ala)not provided [RCV002006208]uncertain significance108016357580163575Humanname
151768142CV1450756single nucleotide variantNM_145868.2(ANXA11):c.399G>T (p.Met133Ile)Inborn genetic diseases [RCV004651833]|not provided [RCV001929255]uncertain significance108016913180169131Human1name
151774299CV1455515single nucleotide variantNM_145868.2(ANXA11):c.467C>T (p.Pro156Leu)not provided [RCV002045544]uncertain significance108016906380169063Humanname
151825582CV1467126single nucleotide variantNM_145868.2(ANXA11):c.979C>T (p.Arg327Ter)ANXA11-related disorder [RCV004743638]|not provided [RCV001901297]uncertain significance108016358480163584Human1name , trait , alternate_id
151865823CV1484310duplicationNM_145868.2(ANXA11):c.1131dup (p.Lys378fs)not provided [RCV001959812]uncertain significance108016198380161984Humanname
152126916CV1533895single nucleotide variantNM_145868.2(ANXA11):c.322C>T (p.Pro108Ser)Amyotrophic lateral sclerosis type 23 [RCV005361980]|not provided [RCV002136435]benign|likely benign108016920880169208Human1name
152083798CV1554786single nucleotide variantNM_145868.2(ANXA11):c.521C>T (p.Pro174Leu)ANXA11-related disorder [RCV003911268]|not provided [RCV002211770]likely benign108016900980169009Human1name , trait , alternate_id
152078694CV1557772single nucleotide variantNM_145868.2(ANXA11):c.629G>A (p.Arg210Gln)ANXA11-related disorder [RCV003923467]|not provided [RCV002170262]likely benign108016724680167246Human1name , trait , alternate_id
152079247CV1557858single nucleotide variantNM_145868.2(ANXA11):c.842T>C (p.Ile281Thr)ANXA11-related disorder [RCV003941303]|not provided [RCV002170324]likely benign108016610080166100Human1name , trait , alternate_id
152136505CV1560664single nucleotide variantNM_145868.2(ANXA11):c.832A>G (p.Ile278Val)ANXA11-related disorder [RCV003933484]|not provided [RCV002137610]benign108016611080166110Human1name , trait , alternate_id
152031756CV1629234single nucleotide variantNM_145868.2(ANXA11):c.962C>A (p.Thr321Asn)ANXA11-related disorder [RCV003903477]|Amyotrophic lateral sclerosis type 23 [RCV003994402]|not provided [RCV002106227]benign|likely benign108016360180163601Human1name , trait , alternate_id
152105011CV1658875single nucleotide variantNM_145868.2(ANXA11):c.905G>A (p.Arg302His)ANXA11-related disorder [RCV003923688]|Amyotrophic lateral sclerosis type 23 [RCV005361968]|not provided [RCV002152285]benign|likely benign|uncertain significance108016409780164097Human1name , trait , alternate_id
152145073CV1661457single nucleotide variantNM_145868.2(ANXA11):c.520C>T (p.Pro174Ser)ANXA11-related disorder [RCV003923461]|not provided [RCV002157307]likely benign108016901080169010Human1name , trait , alternate_id
155644563CV1710280single nucleotide variantNM_145868.2(ANXA11):c.904C>T (p.Arg302Cys)ANXA11-related disorder [RCV003395448]|Amyotrophic lateral sclerosis type 23 [RCV002293392]|not provided [RCV003574902]uncertain significance108016409880164098Human1name , trait , alternate_id
156285574CV1884792single nucleotide variantNM_145868.2(ANXA11):c.595G>A (p.Gly199Ser)Inborn genetic diseases [RCV003161685]|not provided [RCV003061230]uncertain significance108016728080167280Human1name
156413007CV1904685single nucleotide variantNM_145868.2(ANXA11):c.854T>C (p.Ile285Thr)not provided [RCV002588019]uncertain significance108016608880166088Humanname
156273604CV1915489single nucleotide variantNM_145868.2(ANXA11):c.362C>T (p.Pro121Leu)not provided [RCV002628187]uncertain significance108016916880169168Humanname
156186246CV1919211single nucleotide variantNM_145868.2(ANXA11):c.985G>A (p.Asp329Asn)not provided [RCV002595226]likely benign108016357880163578Humanname
156407376CV1960566single nucleotide variantNM_145868.2(ANXA11):c.980G>A (p.Arg327Gln)ANXA11-related disorder [RCV004744375]|not provided [RCV002586209]uncertain significance108016358380163583Human1name , trait , alternate_id
156353353CV1994730single nucleotide variantNM_145868.2(ANXA11):c.689G>A (p.Arg230His)not provided [RCV002675748]uncertain significance108016694580166945Humanname
156134076CV2022865single nucleotide variantNM_145868.2(ANXA11):c.817C>T (p.Pro273Ser)not provided [RCV002740669]uncertain significance108016612580166125Humanname
156057748CV2024012single nucleotide variantNM_145868.2(ANXA11):c.422C>G (p.Pro141Arg)not provided [RCV002736728]uncertain significance108016910880169108Humanname
156121655CV2039894single nucleotide variantNM_145868.2(ANXA11):c.703C>T (p.Arg235Trp)not provided [RCV002785816]uncertain significance108016693180166931Humanname
155914033CV2066050single nucleotide variantNM_145868.2(ANXA11):c.838G>A (p.Glu280Lys)not provided [RCV002837926]uncertain significance108016610480166104Humanname
155980816CV2073949single nucleotide variantNM_145868.2(ANXA11):c.605C>A (p.Pro202His)not provided [RCV002842509]uncertain significance108016727080167270Humanname
156098379CV2103030single nucleotide variantNM_145868.2(ANXA11):c.484G>A (p.Gly162Arg)not provided [RCV002913307]uncertain significance108016904680169046Humanname
156303716CV2129637single nucleotide variantNM_145868.2(ANXA11):c.409G>A (p.Gly137Arg)not provided [RCV002962261]uncertain significance108016912180169121Humanname
155957496CV2172793single nucleotide variantNM_145868.2(ANXA11):c.688C>G (p.Arg230Gly)not provided [RCV003032766]uncertain significance108016694680166946Humanname
156117460CV2278847single nucleotide variantNM_145868.2(ANXA11):c.688C>A (p.Arg230Ser)Inborn genetic diseases [RCV002848841]uncertain significance108016694680166946Human1name
156197663CV2293590single nucleotide variantNM_145868.2(ANXA11):c.644G>C (p.Gly215Ala)Inborn genetic diseases [RCV002874624]|not provided [RCV003777886]uncertain significance108016723180167231Human1name
156004410CV2295933single nucleotide variantNM_145868.2(ANXA11):c.403C>T (p.Pro135Ser)Inborn genetic diseases [RCV002865645]|not provided [RCV003698995]uncertain significance108016912780169127Human1name
156188885CV2328702single nucleotide variantNM_145868.2(ANXA11):c.335A>G (p.Asn112Ser)Inborn genetic diseases [RCV002930862]uncertain significance108016919580169195Human1name
156158282CV2363867single nucleotide variantNM_145868.2(ANXA11):c.674A>G (p.Asp225Gly)Inborn genetic diseases [RCV002698086]uncertain significance108016696080166960Human1name
329401385CV2460846single nucleotide variantNM_145868.2(ANXA11):c.699G>C (p.Lys233Asn)Inborn genetic diseases [RCV003198414]uncertain significance108016693580166935Human1name
401860864CV2758668single nucleotide variantNM_145868.2(ANXA11):c.944A>G (p.Lys315Arg)Inborn genetic diseases [RCV003342373]|not provided [RCV005104075]uncertain significance108016405880164058Human1name
401854404CV2777556single nucleotide variantNM_145868.2(ANXA11):c.862G>A (p.Val288Ile)Inborn genetic diseases [RCV003338328]uncertain significance108016414080164140Human1name
401920413CV2797610single nucleotide variantNM_145868.2(ANXA11):c.653C>T (p.Thr218Met)ANXA11-related disorder [RCV003402628]uncertain significance108016698180166981Humanname , trait , alternate_id
401921180CV2797902single nucleotide variantNM_145868.2(ANXA11):c.527C>G (p.Ser176Cys)ANXA11-related disorder [RCV003402844]uncertain significance108016900380169003Humanname , trait , alternate_id
402515757CV2856700single nucleotide variantNM_145868.2(ANXA11):c.610C>T (p.Arg204Ter)not provided [RCV003575473]uncertain significance108016726580167265Humanname
405089266CV2943380single nucleotide variantNM_145868.2(ANXA11):c.368A>G (p.Tyr123Cys)Inborn genetic diseases [RCV004953346]|not provided [RCV003665091]uncertain significance108016916280169162Human1name
405094194CV2947113single nucleotide variantNM_145868.2(ANXA11):c.401C>T (p.Pro134Leu)not provided [RCV003665411]uncertain significance108016912980169129Humanname
405213293CV2971107single nucleotide variantNM_145868.2(ANXA11):c.584C>T (p.Thr195Ile)not provided [RCV003679594]uncertain significance108016729180167291Humanname
405124160CV3021121single nucleotide variantNM_145868.2(ANXA11):c.539C>A (p.Thr180Asn)not provided [RCV003701072]uncertain significance108016899180168991Humanname
405055212CV3022471deletionNM_145868.2(ANXA11):c.1433del (p.Gly478fs)not provided [RCV003697237]uncertain significance108015766680157666Humanname
405074470CV3034682single nucleotide variantNM_145868.2(ANXA11):c.767C>T (p.Ser256Phe)ANXA11-related disorder [RCV004741670]|not provided [RCV003698516]uncertain significance108016617580166175Human1name , trait , alternate_id
405253027CV3044235single nucleotide variantNM_145868.2(ANXA11):c.437G>A (p.Gly146Glu)Inborn genetic diseases [RCV004654312]|not provided [RCV003722409]uncertain significance108016909380169093Human1name
405201093CV3143514single nucleotide variantNM_145868.2(ANXA11):c.727A>G (p.Lys243Glu)not provided [RCV003844500]uncertain significance108016690780166907Humanname
405249621CV3170139single nucleotide variantNM_145868.2(ANXA11):c.844A>G (p.Lys282Glu)not provided [RCV003869768]uncertain significance108016609880166098Humanname
407490022CV3451216single nucleotide variantNM_145868.2(ANXA11):c.656A>G (p.Asp219Gly)Inborn genetic diseases [RCV004641591]uncertain significance108016697880166978Human1name
407490029CV3451225single nucleotide variantNM_145868.2(ANXA11):c.701A>G (p.Gln234Arg)Inborn genetic diseases [RCV004641593]uncertain significance108016693380166933Human1name
407526816CV3451233single nucleotide variantNM_145868.2(ANXA11):c.533C>G (p.Thr178Ser)Inborn genetic diseases [RCV004654951]uncertain significance108016899780168997Human1name
408371805CV3507907single nucleotide variantNM_145868.2(ANXA11):c.502C>A (p.Pro168Thr)ANXA11-related disorder [RCV004741938]uncertain significance108016902880169028Humanname , trait , alternate_id
408371816CV3507951single nucleotide variantNM_145868.2(ANXA11):c.394C>T (p.Pro132Ser)ANXA11-related disorder [RCV004741949]uncertain significance108016913680169136Humanname , trait , alternate_id
408372125CV3508586single nucleotide variantNM_145868.2(ANXA11):c.476C>T (p.Pro159Leu)ANXA11-related disorder [RCV004742756]uncertain significance108016905480169054Humanname , trait , alternate_id
408373371CV3515031single nucleotide variantNM_145868.2(ANXA11):c.571C>T (p.Arg191Ter)ANXA11-related disorder [RCV004744845]uncertain significance108016730480167304Humanname , trait , alternate_id
408371974CV3517535single nucleotide variantNM_145868.2(ANXA11):c.439C>T (p.Gln147Ter)ANXA11-related disorder [RCV004742110]|not provided [RCV005059898]uncertain significance108016909180169091Human1name , trait , alternate_id
597711843CV3558383single nucleotide variantNM_145868.2(ANXA11):c.376G>T (p.Ala126Ser)Inborn genetic diseases [RCV004959221]uncertain significance108016915480169154Human1name
597711858CV3558404single nucleotide variantNM_145868.2(ANXA11):c.542C>T (p.Pro181Leu)Inborn genetic diseases [RCV004959223]uncertain significance108016898880168988Human1name
597711880CV3558434single nucleotide variantNM_145868.2(ANXA11):c.676T>C (p.Cys226Arg)Inborn genetic diseases [RCV004959226]uncertain significance108016695880166958Human1name
597969387CV3753315single nucleotide variantNM_145868.2(ANXA11):c.322C>A (p.Pro108Thr)not provided [RCV005083799]uncertain significance108016920880169208Humanname
597939219CV3756793single nucleotide variantNM_145868.2(ANXA11):c.503C>T (p.Pro168Leu)not provided [RCV005077174]uncertain significance108016902780169027Humanname
597940577CV3760620single nucleotide variantNM_145868.2(ANXA11):c.788A>T (p.Glu263Val)not provided [RCV005077347]uncertain significance108016615480166154Humanname
597910566CV3806573single nucleotide variantNM_145868.2(ANXA11):c.976A>G (p.Ile326Val)not provided [RCV005154140]uncertain significance108016358780163587Humanname
597898162CV3806916single nucleotide variantNM_145868.2(ANXA11):c.443C>T (p.Pro148Leu)not provided [RCV005152303]uncertain significance108016908780169087Humanname
597878787CV3813734single nucleotide variantNM_145868.2(ANXA11):c.374G>C (p.Gly125Ala)not provided [RCV005149476]uncertain significance108016915680169156Humanname
597951354CV3815345single nucleotide variantNM_145868.2(ANXA11):c.349A>T (p.Met117Leu)not provided [RCV005161295]uncertain significance108016918180169181Humanname
597947278CV3817871single nucleotide variantNM_145868.2(ANXA11):c.796A>G (p.Ile266Val)not provided [RCV005160338]uncertain significance108016614680166146Humanname
597963791CV3830298single nucleotide variantNM_145868.2(ANXA11):c.974C>G (p.Ala325Gly)not provided [RCV005164438]uncertain significance108016358980163589Humanname
597890961CV3835945single nucleotide variantNM_145868.2(ANXA11):c.921C>G (p.Ile307Met)not provided [RCV005179718]uncertain significance108016408180164081Humanname
597960072CV3843545single nucleotide variantNM_145868.2(ANXA11):c.898G>A (p.Ala300Thr)not provided [RCV005192582]uncertain significance108016410480164104Humanname
597887083CV3855253single nucleotide variantNM_145868.2(ANXA11):c.962C>G (p.Thr321Ser)not provided [RCV005199898]uncertain significance108016360180163601Humanname
13508624CV481195single nucleotide variantNM_145868.2(ANXA11):c.523G>A (p.Gly175Arg)Amyotrophic lateral sclerosis type 23 [RCV000578135]|not provided [RCV002526932]pathogenic|uncertain significance108016900780169007Human1name
15201760CV724087single nucleotide variantNM_145868.2(ANXA11):c.731C>T (p.Thr244Met)ANXA11-related disorder [RCV003940686]|not provided [RCV000891283]likely benign108016690380166903Human1name , trait , alternate_id
151730837CV1334979single nucleotide variantNM_145868.2(ANXA11):c.1481G>A (p.Arg494Gln)Amyotrophic lateral sclerosis [RCV001843937]|not provided [RCV001885393]uncertain significance108015589080155890Human2name
151859891CV1337465single nucleotide variantNM_145868.2(ANXA11):c.1328C>A (p.Ala443Asp)Inborn genetic diseases [RCV003303409]|not provided [RCV001923863]uncertain significance108015797480157974Human1name
151794252CV1338216single nucleotide variantNM_145868.2(ANXA11):c.1166C>T (p.Ala389Val)not provided [RCV001898468]uncertain significance108016194980161949Humanname
151799558CV1347611single nucleotide variantNM_145868.2(ANXA11):c.1037G>A (p.Arg346His)not provided [RCV002027960]uncertain significance108016339880163398Humanname
151866585CV1358602single nucleotide variantNM_145868.2(ANXA11):c.1191G>C (p.Glu397Asp)Inborn genetic diseases [RCV002562242]|not provided [RCV001939232]uncertain significance108015918580159185Human1name
151855076CV1372794single nucleotide variantNM_145868.2(ANXA11):c.1006C>T (p.Arg336Trp)not provided [RCV001996436]uncertain significance108016355780163557Humanname
151813992CV1373322single nucleotide variantNM_145868.2(ANXA11):c.1081G>A (p.Ala361Thr)Inborn genetic diseases [RCV004953194]|not provided [RCV001900228]uncertain significance108016335480163354Human1name
151746888CV1375066single nucleotide variantNM_145868.2(ANXA11):c.1162C>T (p.Arg388Trp)not provided [RCV001947697]uncertain significance108016195380161953Humanname
151748148CV1383077single nucleotide variantNM_145868.2(ANXA11):c.1102G>A (p.Gly368Arg)Inborn genetic diseases [RCV005374894]|not provided [RCV001947841]uncertain significance108016201380162013Human1name
151893076CV1411920single nucleotide variantNM_145868.2(ANXA11):c.1457C>T (p.Ser486Leu)ANXA11-related disorder [RCV003401798]|Inborn genetic diseases [RCV004040357]|not provided [RCV001944741]|not specified [RCV004801067]uncertain significance108015764280157642Human2name , trait , alternate_id
151822481CV1415742single nucleotide variantNM_145868.2(ANXA11):c.1169A>C (p.His390Pro)not provided [RCV001901020]uncertain significance108016194680161946Humanname
151846610CV1423865single nucleotide variantNM_145868.2(ANXA11):c.1205C>T (p.Thr402Ile)not provided [RCV001995417]uncertain significance108015917180159171Humanname
151771639CV1431328single nucleotide variantNM_145868.2(ANXA11):c.1424G>A (p.Arg475Gln)Amyotrophic lateral sclerosis type 23 [RCV003389074]|not provided [RCV001915034]uncertain significance108015767580157675Human1name
151853231CV1459128single nucleotide variantNM_145868.2(ANXA11):c.1234C>T (p.Arg412Trp)Inborn genetic diseases [RCV003303641]|not provided [RCV002016867]uncertain significance108015914280159142Human1name
151876394CV1461389single nucleotide variantNM_145868.2(ANXA11):c.1450G>C (p.Asp484His)not provided [RCV001925870]uncertain significance108015764980157649Humanname
151873451CV1470190single nucleotide variantNM_145868.2(ANXA11):c.1168C>T (p.His390Tyr)not provided [RCV001885566]uncertain significance108016194780161947Humanname
151719319CV1505843single nucleotide variantNM_145868.2(ANXA11):c.1423C>T (p.Arg475Trp)ANXA11-related disorder [RCV004743596]|not provided [RCV002039835]uncertain significance108015767680157676Human1name , trait , alternate_id
151820657CV1510546single nucleotide variantNM_145868.2(ANXA11):c.1511A>G (p.Asn504Ser)not provided [RCV001934112]uncertain significance108015586080155860Humanname
151727396CV1511789single nucleotide variantNM_145868.2(ANXA11):c.1480C>T (p.Arg494Trp)not provided [RCV001983853]uncertain significance108015589180155891Humanname
151728770CV1515161single nucleotide variantNM_145868.2(ANXA11):c.1363A>G (p.Ile455Val)not provided [RCV002040981]uncertain significance108015773680157736Humanname
152120482CV1547396single nucleotide variantNM_145868.2(ANXA11):c.1156C>T (p.Arg386Trp)ANXA11-related disorder [RCV003970992]|not provided [RCV002081482]benign|likely benign108016195980161959Human1name , trait , alternate_id
156293920CV1892161single nucleotide variantNM_145868.2(ANXA11):c.1471G>A (p.Gly491Arg)not provided [RCV003061576]uncertain significance108015590080155900Humanname
156242362CV1992616single nucleotide variantNM_145868.2(ANXA11):c.1355G>A (p.Arg452Gln)not provided [RCV002627178]uncertain significance108015774480157744Humanname
156089102CV1994215single nucleotide variantNM_145868.2(ANXA11):c.1246G>A (p.Gly416Arg)Inborn genetic diseases [RCV002658217]|not provided [RCV002639155]uncertain significance108015913080159130Human1name
156067165CV2018391single nucleotide variantNM_145868.2(ANXA11):c.1393G>A (p.Asp465Asn)not provided [RCV002705567]uncertain significance108015770680157706Humanname
156027879CV2025814single nucleotide variantNM_145868.2(ANXA11):c.1111C>T (p.Arg371Cys)ANXA11-related disorder [RCV003418599]|not provided [RCV002735678]uncertain significance108016200480162004Human1name , trait , alternate_id
156373271CV2028276single nucleotide variantNM_145868.2(ANXA11):c.1382G>A (p.Arg461His)Amyotrophic lateral sclerosis type 23 [RCV005370284]|not provided [RCV002721701]uncertain significance108015771780157717Human1name
155954527CV2033317indelNM_145868.2(ANXA11):c.1181-6_1181-5delinsTTnot provided [RCV002730857]uncertain significance108015920080159201Humanname
156119615CV2035813single nucleotide variantNM_145868.2(ANXA11):c.1273G>A (p.Val425Met)not provided [RCV002785737]uncertain significance108015910380159103Humanname
155924254CV2044873single nucleotide variantNM_145868.2(ANXA11):c.1365T>G (p.Ile455Met)not provided [RCV002750857]uncertain significance108015773480157734Humanname
156022433CV2105822single nucleotide variantNM_145868.2(ANXA11):c.1147C>A (p.Leu383Met)not provided [RCV002923129]uncertain significance108016196880161968Humanname
156031240CV2126537single nucleotide variantNM_145868.2(ANXA11):c.1069G>A (p.Ala357Thr)not provided [RCV002949236]uncertain significance108016336680163366Humanname
156024964CV2128858single nucleotide variantNM_145868.2(ANXA11):c.1354C>T (p.Arg452Trp)ANXA11-related disorder [RCV003926589]|not provided [RCV002948956]benign108015774580157745Human1name , trait , alternate_id
155967000CV2142606single nucleotide variantNM_145868.2(ANXA11):c.1054G>A (p.Val352Met)not provided [RCV002995437]uncertain significance108016338180163381Humanname
155915328CV2200218single nucleotide variantNM_145868.2(ANXA11):c.1061T>C (p.Met354Thr)Inborn genetic diseases [RCV002682047]|not provided [RCV005099457]uncertain significance108016337480163374Human1name
156380202CV2207986single nucleotide variantNM_145868.2(ANXA11):c.1228A>G (p.Ile410Val)Inborn genetic diseases [RCV002722357]|not provided [RCV005099533]uncertain significance108015914880159148Human1name
156063445CV2272354single nucleotide variantNM_145868.2(ANXA11):c.1211G>A (p.Arg404Gln)Inborn genetic diseases [RCV002823033]uncertain significance108015916580159165Human1name
329952459CV2669917single nucleotide variantNM_145868.2(ANXA11):c.1469C>A (p.Ser490Ter)not provided [RCV003233130]uncertain significance108015590280155902Humanname
401878628CV2770731single nucleotide variantNM_145868.2(ANXA11):c.1235G>A (p.Arg412Gln)Inborn genetic diseases [RCV003363993]|not provided [RCV003730554]uncertain significance108015914180159141Human1name
401912741CV2800635single nucleotide variantNM_145868.2(ANXA11):c.1339G>A (p.Ala447Thr)ANXA11-related disorder [RCV003399887]uncertain significance108015776080157760Humanname , trait , alternate_id
401907209CV2804875single nucleotide variantNM_145868.2(ANXA11):c.1187A>G (p.Asn396Ser)ANXA11-related disorder [RCV003422486]uncertain significance108015918980159189Humanname , trait , alternate_id
405236111CV2887853single nucleotide variantNM_145868.2(ANXA11):c.1112G>A (p.Arg371His)ANXA11-related disorder [RCV003901151]|not provided [RCV003556420]likely benign108016200380162003Human1name , trait , alternate_id
405233945CV3145131single nucleotide variantNM_145868.2(ANXA11):c.1163G>A (p.Arg388Gln)not provided [RCV003853388]uncertain significance108016195280161952Humanname
405185872CV3149013single nucleotide variantNM_145868.2(ANXA11):c.1036C>T (p.Arg346Cys)not provided [RCV003842935]uncertain significance108016339980163399Humanname
405228828CV3153400single nucleotide variantNM_145868.2(ANXA11):c.1210C>T (p.Arg404Trp)not provided [RCV003848464]uncertain significance108015916680159166Humanname
405222029CV3154868single nucleotide variantNM_145868.2(ANXA11):c.1100C>T (p.Ala367Val)not provided [RCV003847363]likely benign108016201580162015Humanname
402502582CV3181105single nucleotide variantNM_145868.2(ANXA11):c.1243T>A (p.Ser415Thr)not provided [RCV003878122]uncertain significance108015913380159133Humanname
408371792CV3507570single nucleotide variantNM_145868.2(ANXA11):c.1346C>T (p.Thr449Ile)ANXA11-related disorder [RCV004741871]uncertain significance108015775380157753Humanname , trait , alternate_id
408372110CV3508365single nucleotide variantNM_145868.2(ANXA11):c.1319T>C (p.Leu440Pro)ANXA11-related disorder [RCV004742714]|not provided [RCV005103684]uncertain significance108015798380157983Human1name , trait , alternate_id
408372979CV3513655single nucleotide variantNM_145868.2(ANXA11):c.1007G>A (p.Arg336Gln)ANXA11-related disorder [RCV004744094]uncertain significance108016355680163556Humanname , trait , alternate_id
597711838CV3558357single nucleotide variantNM_145868.2(ANXA11):c.1102G>C (p.Gly368Arg)Inborn genetic diseases [RCV004959220]uncertain significance108016201380162013Human1name
597711866CV3558413single nucleotide variantNM_145868.2(ANXA11):c.1130C>G (p.Ser377Cys)Inborn genetic diseases [RCV004959224]uncertain significance108016198580161985Human1name
597711873CV3558423single nucleotide variantNM_145868.2(ANXA11):c.1126G>A (p.Glu376Lys)Inborn genetic diseases [RCV004959225]uncertain significance108016198980161989Human1name
597870786CV3749960single nucleotide variantNM_145868.2(ANXA11):c.1262G>T (p.Gly421Val)not provided [RCV005068641]uncertain significance108015911480159114Humanname
597961727CV3795241single nucleotide variantNM_145868.2(ANXA11):c.1268T>A (p.Leu423Gln)not provided [RCV005138933]uncertain significance108015910880159108Humanname
597948340CV3800933single nucleotide variantNM_145868.2(ANXA11):c.1004A>G (p.Gln335Arg)not provided [RCV005135333]uncertain significance108016355980163559Humanname
597880861CV3810256single nucleotide variantNM_145868.2(ANXA11):c.1048A>C (p.Thr350Pro)not provided [RCV005149717]uncertain significance108016338780163387Humanname
597860100CV3817231single nucleotide variantNM_145868.2(ANXA11):c.1358C>T (p.Thr453Ile)not provided [RCV005146611]uncertain significance108015774180157741Humanname
597911828CV3834156single nucleotide variantNM_145868.2(ANXA11):c.1237G>A (p.Glu413Lys)not provided [RCV005182918]uncertain significance108015913980159139Humanname
597910081CV3854163single nucleotide variantNM_145868.2(ANXA11):c.1154C>T (p.Ser385Phe)not provided [RCV005203431]uncertain significance108016196180161961Humanname
598244259CV3895523single nucleotide variantNM_145868.2(ANXA11):c.1010T>A (p.Leu337His)Amyotrophic lateral sclerosis type 23 [RCV005365649]uncertain significance108016355380163553Human1name
598228001CV3986624single nucleotide variantNM_145868.2(ANXA11):c.1062G>A (p.Met354Ile)Inborn genetic diseases [RCV005380855]uncertain significance108016337380163373Human1name
598228036CV3986633single nucleotide variantNM_145868.2(ANXA11):c.1409G>C (p.Arg470Thr)Inborn genetic diseases [RCV005380861]uncertain significance108015769080157690Human1name
598228124CV3986654single nucleotide variantNM_145868.2(ANXA11):c.1363A>T (p.Ile455Phe)Inborn genetic diseases [RCV005380876]uncertain significance108015773680157736Human1name
15202575CV724085single nucleotide variantNM_145868.2(ANXA11):c.1369A>G (p.Ile457Val)not provided [RCV000891513]benign108015773080157730Humanname
15194889CV724086single nucleotide variantNM_145868.2(ANXA11):c.1105G>A (p.Glu369Lys)not provided [RCV000889345]benign|likely benign108016201080162010Humanname
151717556CV1334978microsatelliteNM_145868.2(ANXA11):c.488AGC[2] (p.Gln165del)Amyotrophic lateral sclerosis [RCV001843936]uncertain significance108016903480169036Humanname
155988470CV2094333insertionNM_145868.2(ANXA11):c.461_462insA (p.Gln155fs)not provided [RCV002882276]uncertain significance108016906880169069Humanname
597911362CV3778253indelNM_145868.2(ANXA11):c.1087-355_1114delinsTTCCCATnot provided [RCV005128792]uncertain significance108016200180162383Humanname
152162330CV1584793microsatelliteNM_145868.2(ANXA11):c.222CCCTGGGGC[1] (p.75PGA[1])ANXA11-related disorder [RCV003903495]|not provided [RCV002123427]likely benign108016929180169299Humanname , trait , alternate_id
243053255CV2418185indelNM_145868.2(ANXA11):c.118_119delinsAT (p.Asp40Ile)Oculopharyngeal muscular dystrophy 1 [RCV005245546]pathogenic108017085280170853Humanname
401920689CV2804290deletionNM_145868.2(ANXA11):c.237_266del (p.Ala80_Gly89del)ANXA11-related disorder [RCV003402713]uncertain significance108016926480169293Humanname , trait , alternate_id
151768990CV1410537indelNM_145868.2(ANXA11):c.1010_1011delinsAA (p.Leu337Gln)ANXA11-related disorder [RCV003418239]|Amyotrophic lateral sclerosis type 23 [RCV004762271]|not provided [RCV001988058]uncertain significance108016355280163553Humanname , trait , alternate_id
151773801CV1417197deletionNM_145868.2(ANXA11):c.425_448del (p.Gly142_Pro149del)not provided [RCV001971435]uncertain significance108016908280169105Humanname
401933404CV2804084deletionNM_145868.2(ANXA11):c.438_461del (p.Thr151_Val158del)ANXA11-related disorder [RCV003392835]|Amyotrophic lateral sclerosis type 23 [RCV004796807]|not provided [RCV003738454]uncertain significance108016906980169092Human1name , trait , alternate_id
156227759CV2115446indelNM_145868.2(ANXA11):c.992_995delinsTCGAAGCC (p.Ser331fs)not provided [RCV002932706]uncertain significance108016356880163571Humanname
408372628CV3511400duplicationNM_145868.2(ANXA11):c.444_467dup (p.Val158_Pro159insThrTyrProGlyGlnProProVal)ANXA11-related disorder [RCV004743720]uncertain significance108016906280169063Humanname , trait , alternate_id