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591 records found for search term Pex26
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8556675CV17199insertionPEX26, 1-BP INS, 254TPeroxisome biogenesis disorder 7A [RCV000002243]pathogenicHumanname
11631595CV347062single nucleotide variantNM_017929.5(PEX26):c.-148C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000383177]|not provided [RCV001559875]benign|likely benign221807798118077981Human1name
11654912CV352135single nucleotide variantNM_017929.5(PEX26):c.-167C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000321765]uncertain significance221807796218077962Human1name
28895330CV887213single nucleotide variantNM_017929.5(PEX26):c.-207T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV001140833]uncertain significance221807792218077922Human1name
28895332CV887214single nucleotide variantNM_017929.5(PEX26):c.-203G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV001140834]uncertain significance221807792618077926Human1name
28900217CV887215single nucleotide variantNM_017929.5(PEX26):c.-164G>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV001142678]uncertain significance221807796518077965Human1name
9688755CV177937single nucleotide variantNM_001127649.3(PEX26):c.*10C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000363205]|not provided [RCV000587435]|not specified [RCV000153684]benign|likely benign221808808518088085Human1name
28900219CV887216single nucleotide variantNM_001127649.3(PEX26):c.-80C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV001142679]uncertain significance221807829718078297Human1name
28875292CV890850single nucleotide variantNM_001127649.3(PEX26):c.*36G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV001147587]uncertain significance221808811118088111Human1name
11616013CV337464single nucleotide variantNM_001127649.3(PEX26):c.-381C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000291168]uncertain significance221807799618077996Human1name
11619416CV337466single nucleotide variantNM_001127649.3(PEX26):c.-375G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000325139]uncertain significance221807800218078002Human1name
11620080CV337498single nucleotide variantNM_001127649.3(PEX26):c.*113G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000332971]uncertain significance221808818818088188Human1name
11658021CV337499single nucleotide variantNM_001127649.3(PEX26):c.*812C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000346073]uncertain significance221808888718088887Human1name
11622732CV337502single nucleotide variantNM_001127649.3(PEX26):c.*912C>TPeroxisome biogenesis disorder 1A (Zellweger) [RCV000363671]uncertain significance221808898718088987Human1name
11618546CV337503single nucleotide variantNM_001127649.3(PEX26):c.*925A>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV000314877]likely benign|uncertain significance221808900018089000Human1name
11623352CV337510single nucleotide variantNM_001127649.3(PEX26):c.*977C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000371975]uncertain significance221808905218089052Human1name
11626820CV347071single nucleotide variantNM_001127649.3(PEX26):c.*112C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000270864]uncertain significance221808818718088187Human1name
11629706CV347074single nucleotide variantNM_001127649.3(PEX26):c.*167G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000331781]|not provided [RCV001675841]benign221808824218088242Human1name
11631316CV347075single nucleotide variantNM_001127649.3(PEX26):c.*280G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000374658]uncertain significance221808835518088355Human1name
11627383CV347076single nucleotide variantNM_001127649.3(PEX26):c.*400C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000281724]|not provided [RCV004713756]benign|likely benign221808847518088475Human1name
11649006CV347077single nucleotide variantNM_001127649.3(PEX26):c.*568G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000285087]uncertain significance221808864318088643Human1name
11632283CV347080single nucleotide variantNM_001127649.3(PEX26):c.*828C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000404028]uncertain significance221808890318088903Human1name
11631823CV351115single nucleotide variantNM_001127649.3(PEX26):c.*114C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000389759]likely benign|uncertain significance221808818918088189Human1name
11629824CV351118single nucleotide variantNM_001127649.3(PEX26):c.*464A>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV000334452]|not provided [RCV004713757]benign|likely benign221808853918088539Human1name
11632322CV351122single nucleotide variantNM_001127649.3(PEX26):c.*692T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV000404221]benign|likely benign221808876718088767Human1name
11628488CV351123single nucleotide variantNM_001127649.3(PEX26):c.*754A>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV000302867]benign|likely benign221808882918088829Human1name
11631077CV351126single nucleotide variantNM_001127649.3(PEX26):c.*943G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000367244]benign|likely benign221808901818089018Human1name
11627053CV351127single nucleotide variantNM_001127649.3(PEX26):c.*944C>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000275142]benign|likely benign221808901918089019Human1name
11629211CV351130single nucleotide variantNM_001127649.3(PEX26):c.*954T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV000318493]uncertain significance221808902918089029Human1name
11631568CV352136single nucleotide variantNM_001127649.3(PEX26):c.-363G>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV000382099]|not provided [RCV001613121]benign|likely benign221807801418078014Human1name
11628057CV352137single nucleotide variantNM_001127649.3(PEX26):c.-318A>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV000294741]|not provided [RCV001613122]benign|likely benign221807805918078059Human1name
11627052CV352138single nucleotide variantNM_001127649.3(PEX26):c.*133C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000274220]uncertain significance221808820818088208Human1name
11661027CV352139single nucleotide variantNM_001127649.3(PEX26):c.*533A>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV000372781]uncertain significance221808860818088608Human1name
11628724CV352140single nucleotide variantNM_001127649.3(PEX26):c.*829A>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV000306534]|not provided [RCV004713758]benign221808890418088904Human1name
11627105CV352141single nucleotide variantNM_001127649.3(PEX26):c.*917C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000276104]|not provided [RCV004713759]benign|likely benign221808899218088992Human1name
11626267CV352142single nucleotide variantNM_001127649.3(PEX26):c.*987T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV000260942]|not provided [RCV004713760]benign221808906218089062Human1name
28875295CV890851single nucleotide variantNM_001127649.3(PEX26):c.*122A>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV001147588]uncertain significance221808819718088197Human1name
28875297CV890852single nucleotide variantNM_001127649.3(PEX26):c.*279G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV001147589]likely benign221808835418088354Human1name
28885593CV890853single nucleotide variantNM_001127649.3(PEX26):c.*439C>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV001150913]|not provided [RCV004694942]uncertain significance221808851418088514Human1name
28885598CV890854single nucleotide variantNM_001127649.3(PEX26):c.*566T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV001150914]likely benign221808864118088641Human1name
28885602CV890855single nucleotide variantNM_001127649.3(PEX26):c.*578A>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV001150915]uncertain significance221808865318088653Human1name
28905240CV890856single nucleotide variantNM_001127649.3(PEX26):c.*662C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV001144815]uncertain significance221808873718088737Human1name
28905243CV890857single nucleotide variantNM_001127649.3(PEX26):c.*802A>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV001144816]uncertain significance221808887718088877Human1name
28873480CV890858single nucleotide variantNM_001127649.3(PEX26):c.*829A>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV001146780]uncertain significance221808890418088904Human1name
151766438CV1359163single nucleotide variantNM_001127649.3(PEX26):c.815-7C>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV001970746]likely benign|uncertain significance221808796518087965Human1name
151746290CV1439420single nucleotide variantNM_001127649.3(PEX26):c.372-9G>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV001985761]uncertain significance221808342818083428Human1name
151867798CV1491900single nucleotide variantNM_001127649.3(PEX26):c.667+2T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV002018562]|Peroxisome biogenesis disorder [RCV002509745]pathogenic|likely pathogenic221808373418083734Human3name
151811459CV1516861single nucleotide variantNM_001127649.3(PEX26):c.668-2A>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV002012478]likely pathogenic221808511018085110Human1name
152152933CV1664589single nucleotide variantNM_001127649.3(PEX26):c.371+8T>GPEX26-related disorder [RCV003960883]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002158459]likely benign221808002218080022Human2name , trait , alternate_id
153304074CV1690610single nucleotide variantNM_001127649.3(PEX26):c.230+6T>Anot provided [RCV002269654]uncertain significance221807861218078612Humanname
8556674CV17198single nucleotide variantNM_001127649.3(PEX26):c.230+1G>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000002242]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001851574]|Peroxisome biogenesis disorder [RCV002509142]pathogenic221807860718078607Human3name
156077378CV2025736deletionNM_001127649.3(PEX26):c.815-6delPeroxisome biogenesis disorder 7A (Zellweger) [RCV002760514]likely benign221808796418087964Human1name
156042724CV2049804single nucleotide variantNM_001127649.3(PEX26):c.815-5T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV002796496]likely benign221808796718087967Human1name
156305308CV2129731single nucleotide variantNM_001127649.3(PEX26):c.815-4G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV002962336]likely benign221808796818087968Human1name
156247974CV2174402single nucleotide variantNM_001127649.3(PEX26):c.668-3C>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV003043685]uncertain significance221808510918085109Human1name
401950393CV2834830single nucleotide variantNM_001127649.3(PEX26):c.814+1G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV003476818]likely pathogenic221808525918085259Human1name
401950397CV2834834single nucleotide variantNM_001127649.3(PEX26):c.230+1G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV003476822]pathogenic221807860718078607Human1name
402509268CV3088904single nucleotide variantNM_001127649.3(PEX26):c.372-4G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV003780108]likely benign221808343318083433Human1name
405153374CV3102001single nucleotide variantNM_001127649.3(PEX26):c.371+8T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV003801606]likely benign221808002218080022Human1name
405010769CV3109187single nucleotide variantNM_001127649.3(PEX26):c.372-2A>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV003804855]likely pathogenic221808343518083435Human1name
405111410CV3110772single nucleotide variantNM_001127649.3(PEX26):c.667+8A>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV003813675]likely benign221808374018083740Human1name
405083101CV3113565single nucleotide variantNM_001127649.3(PEX26):c.814+8G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV003810582]likely benign221808526618085266Human1name
405012266CV3113974single nucleotide variantNM_001127649.3(PEX26):c.230+7G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV003804996]likely benign221807861318078613Human1name
11657538CV337492single nucleotide variantNM_001127649.3(PEX26):c.230+8C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000342218]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002520040]likely benign|uncertain significance221807861418078614Human1name
11621016CV337513single nucleotide variantNM_001127649.3(PEX26):c.*1283C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000343723]benign|likely benign221808935818089358Human1name
11621986CV337515single nucleotide variantNM_001127649.3(PEX26):c.*1669C>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV000354949]|not provided [RCV004713764]benign|likely benign221808974418089744Human1name
11619395CV337520single nucleotide variantNM_001127649.3(PEX26):c.*1720G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000324823]uncertain significance221808979518089795Human1name
11619634CV337522single nucleotide variantNM_001127649.3(PEX26):c.*1859A>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV000327867]|not provided [RCV004713765]benign|likely benign221808993418089934Human1name
11624329CV337523single nucleotide variantNM_001127649.3(PEX26):c.*1957G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000384729]benign|likely benign221809003218090032Human1name
11655622CV337524deletionNM_001127649.3(PEX26):c.*2070delPeroxisome biogenesis disorder 1A (Zellweger) [RCV000327184]uncertain significance221809014018090140Human1name
11616652CV337530single nucleotide variantNM_001127649.3(PEX26):c.*2162G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000296737]|not provided [RCV002263618]benign|likely benign|uncertain significance221809023718090237Human1name
11646699CV337538single nucleotide variantNM_001127649.3(PEX26):c.*2768C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000272444]uncertain significance221809084318090843Human1name
11655327CV337540duplicationNM_001127649.3(PEX26):c.*2799dupPeroxisome biogenesis disorder 1A (Zellweger) [RCV000325145]uncertain significance221809086918090870Human1name
11661782CV347081single nucleotide variantNM_001127649.3(PEX26):c.*1136G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000380010]uncertain significance221808921118089211Human1name
11648639CV347082single nucleotide variantNM_001127649.3(PEX26):c.*1152G>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV000283054]uncertain significance221808922718089227Human1name
11628985CV347085single nucleotide variantNM_001127649.3(PEX26):c.*1623G>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000312346]benign|likely benign221808969818089698Human1name
11632054CV347091single nucleotide variantNM_001127649.3(PEX26):c.*1635G>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV000397135]|not provided [RCV004713763]benign221808971018089710Human1name
11627757CV347095single nucleotide variantNM_001127649.3(PEX26):c.*2051A>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV000288555]|not provided [RCV004713766]benign221809012618090126Human1name
11627393CV347096single nucleotide variantNM_001127649.3(PEX26):c.*2311G>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000281335]likely benign|uncertain significance221809038618090386Human1name
11628534CV347108single nucleotide variantNM_001127649.3(PEX26):c.*2701G>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV000302945]benign|likely benign221809077618090776Human1name
11630975CV347114single nucleotide variantNM_001127649.3(PEX26):c.*2724G>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV000364701]uncertain significance221809079918090799Human1name
11629426CV351131single nucleotide variantNM_001127649.3(PEX26):c.*1003T>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV000323003]benign|likely benign221808907818089078Human1name
11630087CV351133single nucleotide variantNM_001127649.3(PEX26):c.*1171G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000340357]uncertain significance221808924618089246Human1name
11631642CV351134single nucleotide variantNM_001127649.3(PEX26):c.*1194G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000383400]|not provided [RCV004694654]uncertain significance221808926918089269Human1name
11627889CV351137single nucleotide variantNM_001127649.3(PEX26):c.*1265T>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000291367]|not provided [RCV004713761]benign221808934018089340Human1name
11628044CV351138single nucleotide variantNM_001127649.3(PEX26):c.*1590G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000294517]|not provided [RCV004713762]benign|likely benign221808966518089665Human1name
11659137CV351140single nucleotide variantNM_001127649.3(PEX26):c.*1631G>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000355351]uncertain significance221808970618089706Human1name
11630752CV351142single nucleotide variantNM_001127649.3(PEX26):c.*1740C>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV000358531]likely benign|uncertain significance221808981518089815Human1name
11630395CV351144single nucleotide variantNM_001127649.3(PEX26):c.*2281T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV000349159]|not provided [RCV004713767]benign221809035618090356Human1name
11652254CV351147single nucleotide variantNM_001127649.3(PEX26):c.*2452G>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV000303980]uncertain significance221809052718090527Human1name
11630502CV352143single nucleotide variantNM_001127649.3(PEX26):c.*1608G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000351724]benign|likely benign221808968318089683Human1name
11645756CV352144single nucleotide variantNM_001127649.3(PEX26):c.*1684T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV000267271]uncertain significance221808975918089759Human1name
11626528CV352145single nucleotide variantNM_001127649.3(PEX26):c.*1778C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000265798]benign|likely benign221808985318089853Human1name
11631807CV352148single nucleotide variantNM_001127649.3(PEX26):c.*2155A>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV000388649]uncertain significance221809023018090230Human1name
11664632CV352149single nucleotide variantNM_001127649.3(PEX26):c.*2285C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000407752]uncertain significance221809036018090360Human1name
11630000CV352150single nucleotide variantNM_001127649.3(PEX26):c.*2386C>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV000338781]uncertain significance221809046118090461Human1name
11631848CV352151single nucleotide variantNM_001127649.3(PEX26):c.*2449C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000390568]uncertain significance221809052418090524Human1name
11630871CV352152single nucleotide variantNM_001127649.3(PEX26):c.*2479G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000360995]uncertain significance221809055418090554Human1name
11664161CV352153single nucleotide variantNM_001127649.3(PEX26):c.*2647G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV000402979]uncertain significance221809072218090722Human1name
11627101CV352154single nucleotide variantNM_001127649.3(PEX26):c.*2878C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000276036]benign|likely benign221809095318090953Human1name
597921669CV3865787single nucleotide variantNM_001127649.3(PEX26):c.668-7T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV005223593]likely benign221808510518085105Human1name
597891598CV3867922single nucleotide variantNM_001127649.3(PEX26):c.371+1G>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV005218950]likely pathogenic221808001518080015Human1name
597837336CV3874614single nucleotide variantNM_001127649.3(PEX26):c.668-8C>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV005210535]likely benign221808510418085104Human1name
13516911CV491264single nucleotide variantNM_001127649.3(PEX26):c.668-5G>TPEX26-related disorder [RCV004754488]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002065164]|not provided [RCV000596109]likely benign|uncertain significance221808510718085107Human2name , trait , alternate_id
13522000CV493262single nucleotide variantNM_001127649.3(PEX26):c.815-6C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV002532627]|not provided [RCV000591178]likely benign|uncertain significance221808796618087966Human1name
13520923CV495760deletionNM_001127649.3(PEX26):c.667+1delnot provided [RCV000599031]likely pathogenic221808373218083732Humanname
13833621CV584856single nucleotide variantNM_001127649.3(PEX26):c.667+8A>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV001085287]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001146682]|not provided [RCV000728930]likely benign|conflicting interpretations of pathogenicity|uncertain significance221808374018083740Human1name
13835064CV586318single nucleotide variantNM_001127649.3(PEX26):c.230+3A>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV001202633]|not provided [RCV000730758]uncertain significance221807860918078609Human1name
13837070CV588355single nucleotide variantNM_001127649.3(PEX26):c.372-5T>Gnot provided [RCV000733359]uncertain significance221808343218083432Humanname
28875475CV890859single nucleotide variantNM_001127649.3(PEX26):c.*1156T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV001147681]uncertain significance221808923118089231Human1name
28885963CV890860single nucleotide variantNM_001127649.3(PEX26):c.*1488T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV001151020]uncertain significance221808956318089563Human1name
28885967CV890861single nucleotide variantNM_001127649.3(PEX26):c.*1493C>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV001151021]uncertain significance221808956818089568Human1name
28885973CV890862single nucleotide variantNM_001127649.3(PEX26):c.*1509C>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV001151022]uncertain significance221808958418089584Human1name
28885977CV890863single nucleotide variantNM_001127649.3(PEX26):c.*1618G>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV001151023]uncertain significance221808969318089693Human1name
28869425CV890864single nucleotide variantNM_001127649.3(PEX26):c.*1627G>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV001144923]uncertain significance221808970218089702Human1name
28869429CV890865single nucleotide variantNM_001127649.3(PEX26):c.*1639G>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV001144924]|not provided [RCV004694898]uncertain significance221808971418089714Human1name
28873698CV890866single nucleotide variantNM_001127649.3(PEX26):c.*1922C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV001146880]uncertain significance221808999718089997Human1name
28873702CV890867single nucleotide variantNM_001127649.3(PEX26):c.*1928A>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV001146881]uncertain significance221809000318090003Human1name
28873706CV890868single nucleotide variantNM_001127649.3(PEX26):c.*1957G>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV001146882]uncertain significance221809003218090032Human1name
28875703CV890869single nucleotide variantNM_001127649.3(PEX26):c.*2195A>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV001147783]uncertain significance221809027018090270Human1name
28875705CV890870single nucleotide variantNM_001127649.3(PEX26):c.*2282G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV001147784]uncertain significance221809035718090357Human1name
28875709CV890871single nucleotide variantNM_001127649.3(PEX26):c.*2308A>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV001147785]uncertain significance221809038318090383Human1name
28880464CV890872single nucleotide variantNM_001127649.3(PEX26):c.*2339G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV001149331]uncertain significance221809041418090414Human1name
28880468CV890873single nucleotide variantNM_001127649.3(PEX26):c.*2369C>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV001149332]uncertain significance221809044418090444Human1name
28880472CV890874single nucleotide variantNM_001127649.3(PEX26):c.*2370T>APeroxisome biogenesis disorder 7A (Zellweger) [RCV001149333]uncertain significance221809044518090445Human1name
28869686CV890875single nucleotide variantNM_001127649.3(PEX26):c.*2523C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV001145027]uncertain significance221809059818090598Human1name
28869688CV890876single nucleotide variantNM_001127649.3(PEX26):c.*2604G>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV001145028]uncertain significance221809067918090679Human1name
28869691CV890877single nucleotide variantNM_001127649.3(PEX26):c.*2651C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV001145029]uncertain significance221809072618090726Human1name
28869693CV890878single nucleotide variantNM_001127649.3(PEX26):c.*2703G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV001145030]|not provided [RCV004704452]likely benign221809077818090778Human1name
28873924CV890879single nucleotide variantNM_001127649.3(PEX26):c.*2810G>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV001146980]uncertain significance221809088518090885Human1name
28873927CV890880single nucleotide variantNM_001127649.3(PEX26):c.*2904T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV001146981]uncertain significance221809097918090979Human1name
38491786CV941272single nucleotide variantNM_001127649.3(PEX26):c.371+6T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV001223079]|not specified [RCV004782672]uncertain significance221808002018080020Human1name
127291472CV1128985single nucleotide variantNM_001127649.3(PEX26):c.371+19C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV001451497]likely benign221808003318080033Human1name
150490079CV1239052single nucleotide variantNM_001127649.3(PEX26):c.231-45T>Gnot provided [RCV001654620]benign221807982918079829Humanname
152063172CV1542251single nucleotide variantNM_001127649.3(PEX26):c.668-20T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV002208948]likely benign221808509218085092Human1name
152032082CV1548914single nucleotide variantNM_001127649.3(PEX26):c.231-19T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV002086506]likely benign221807985518079855Human1name
152119409CV1558495single nucleotide variantNM_001127649.3(PEX26):c.668-18C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV002135514]likely benign221808509418085094Human1name
152135359CV1560351single nucleotide variantNM_001127649.3(PEX26):c.814+10G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV002137466]likely benign221808526818085268Human1name
152088904CV1563006single nucleotide variantNM_001127649.3(PEX26):c.230+15C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV002113797]likely benign221807862118078621Human1name
152053554CV1575064duplicationNM_001127649.3(PEX26):c.372-12dupPeroxisome biogenesis disorder 7A (Zellweger) [RCV002109272]benign221808341918083420Human1name
152164553CV1588512single nucleotide variantNM_001127649.3(PEX26):c.371+14G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV002181559]likely benign221808002818080028Human1name
152071272CV1591560single nucleotide variantNM_001127649.3(PEX26):c.372-18G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV002210011]likely benign221808341918083419Human1name
152117915CV1594822single nucleotide variantNM_001127649.3(PEX26):c.231-15T>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV002197648]likely benign221807985918079859Human1name
152160888CV1606069single nucleotide variantNM_001127649.3(PEX26):c.667+20C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV002180913]likely benign221808375218083752Human1name
152155758CV1620610single nucleotide variantNM_001127649.3(PEX26):c.667+13C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV002122391]likely benign221808374518083745Human1name
152160474CV1650148single nucleotide variantNM_001127649.3(PEX26):c.815-19G>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV002159546]likely benign221808795318087953Human1name
10052825CV195386single nucleotide variantNM_001127649.3(PEX26):c.815-10T>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV002054132]|not provided [RCV000179497]likely benign|uncertain significance221808796218087962Human1name
156410338CV1958329single nucleotide variantNM_001127649.3(PEX26):c.814+17C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV002587120]likely benign221808527518085275Human1name
156130011CV1962657single nucleotide variantNM_001127649.3(PEX26):c.230+12G>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV002572191]likely benign221807861818078618Human1name
156288072CV2050274single nucleotide variantNM_001127649.3(PEX26):c.230+16G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV002807233]likely benign221807862218078622Human1name
155910297CV2069348single nucleotide variantNM_001127649.3(PEX26):c.230+10G>APeroxisome biogenesis disorder 7A (Zellweger) [RCV002837658]likely benign221807861618078616Human1name
155976553CV2085216single nucleotide variantNM_001127649.3(PEX26):c.371+10C>APeroxisome biogenesis disorder 7A (Zellweger) [RCV002863558]likely benign221808002418080024Human1name
156121641CV2137595single nucleotide variantNM_001127649.3(PEX26):c.814+11G>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV003003005]likely benign221808526918085269Human1name
404985857CV3083559single nucleotide variantNM_001127649.3(PEX26):c.814+11G>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV003781909]likely benign221808526918085269Human1name
404995800CV3085408single nucleotide variantNM_001127649.3(PEX26):c.231-16G>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV003782939]likely benign221807985818079858Human1name
402489325CV3090893single nucleotide variantNM_001127649.3(PEX26):c.668-18C>APeroxisome biogenesis disorder 7A (Zellweger) [RCV003787395]likely benign221808509418085094Human1name
405017648CV3094131single nucleotide variantNM_001127649.3(PEX26):c.668-18C>GPeroxisome biogenesis disorder 7A (Zellweger) [RCV003784981]likely benign221808509418085094Human1name
405027056CV3094770single nucleotide variantNM_001127649.3(PEX26):c.815-14C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV003796132]likely benign221808795818087958Human1name
405045561CV3097201single nucleotide variantNM_001127649.3(PEX26):c.667+15C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV003807781]likely benign221808374718083747Human1name
405024466CV3097684single nucleotide variantNM_001127649.3(PEX26):c.667+10T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV003806145]likely benign221808374218083742Human1name
405051926CV3097907single nucleotide variantNM_001127649.3(PEX26):c.668-14G>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV003808320]likely benign221808509818085098Human1name
404982137CV3100052single nucleotide variantNM_001127649.3(PEX26):c.668-20T>APeroxisome biogenesis disorder 7A (Zellweger) [RCV003791719]likely benign221808509218085092Human1name
404982144CV3100053single nucleotide variantNM_001127649.3(PEX26):c.668-17T>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV003791720]likely benign221808509518085095Human1name
405151997CV3101921duplicationNM_001127649.3(PEX26):c.371+20dupPeroxisome biogenesis disorder 7A (Zellweger) [RCV003801525]likely benign221808003318080034Human1name
405066656CV3110936single nucleotide variantNM_001127649.3(PEX26):c.372-18G>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV003809440]likely benign221808341918083419Human1name
405040476CV3112789single nucleotide variantNM_001127649.3(PEX26):c.814+13G>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV003807456]likely benign221808527118085271Human1name
405106455CV3113626single nucleotide variantNM_001127649.3(PEX26):c.231-10C>APeroxisome biogenesis disorder 7A (Zellweger) [RCV003812748]likely benign221807986418079864Human1name
405104453CV3114418deletionNM_001127649.3(PEX26):c.814+22delPeroxisome biogenesis disorder 7A (Zellweger) [RCV003812257]benign221808527718085277Human1name
405080893CV3114847single nucleotide variantNM_001127649.3(PEX26):c.815-19G>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV003810410]likely benign221808795318087953Human1name
11626899CV351111single nucleotide variantNM_001127649.3(PEX26):c.815-13C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV000271599]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001519559]|not provided [RCV001571867]benign|likely benign|uncertain significance221808795918087959Human1name
11657599CV351119microsatelliteNM_001127649.3(PEX26):c.*609GA[3]Peroxisome biogenesis disorder 1A (Zellweger) [RCV000342670]uncertain significance221808868318088684Humanname
597865789CV3868841duplicationNM_001127649.3(PEX26):c.668-15dupPeroxisome biogenesis disorder 7A (Zellweger) [RCV005214961]likely benign221808509618085097Human1name
597867014CV3869011single nucleotide variantNM_001127649.3(PEX26):c.231-15T>APeroxisome biogenesis disorder 7A (Zellweger) [RCV005215132]likely benign221807985918079859Human1name
597841145CV3873662single nucleotide variantNM_001127649.3(PEX26):c.815-20A>CPeroxisome biogenesis disorder 7A (Zellweger) [RCV005226489]likely benign221808795218087952Human1name
28873285CV891805single nucleotide variantNM_001127649.3(PEX26):c.814+15C>TPeroxisome biogenesis disorder 7A (Zellweger) [RCV001146684]uncertain significance221808527318085273Human1name
150415261CV1178560single nucleotide variantNM_001127649.3(PEX26):c.667+264T>Cnot provided [RCV001548495]likely benign221808399618083996Humanname
150415804CV1181952single nucleotide variantNM_001127649.3(PEX26):c.815-331C>Anot provided [RCV001549302]likely benign221808764118087641Humanname
150508058CV1213933single nucleotide variantNM_001127649.3(PEX26):c.372-177C>Tnot provided [RCV001596454]likely benign221808326018083260Humanname
150487169CV1251478single nucleotide variantNM_001127649.3(PEX26):c.371+108C>Tnot provided [RCV001674149]benign221808012218080122Humanname
150487618CV1251553single nucleotide variantNM_001127649.3(PEX26):c.667+204C>Tnot provided [RCV001674224]benign221808393618083936Humanname
150465423CV1252879single nucleotide variantNM_001127649.3(PEX26):c.230+203A>Tnot provided [RCV001670203]benign221807880918078809Humanname
150478288CV1271033single nucleotide variantNM_001127649.3(PEX26):c.371+272G>Anot provided [RCV001696469]benign221808028618080286Humanname
8556672CV17194deletionNM_001127649.3(PEX26):c.669_814+1delPeroxisome biogenesis disorder 7A (Zellweger) [RCV000002238]pathogenicHumanname
11664446CV347093microsatelliteNM_001127649.3(PEX26):c.*1623GTTT[7]Peroxisome biogenesis disorder 1A (Zellweger) [RCV000405922]uncertain significance221808969418089695Humanname
405275332CV3204711single nucleotide variantNM_001127649.3(PEX26):c.9C>T (p.Ser3=)PEX26-related disorder [RCV003952103]likely benign221807838518078385Humanname , trait , alternate_id
407427120CV3410457duplicationNM_001127649.3(PEX26):c.667+3_667+6dupnot specified [RCV004586104]uncertain significance221808373418083735Humanname
11632380CV347084duplicationNM_001127649.3(PEX26):c.*1532_*1535dupPeroxisome biogenesis disorder 1A (Zellweger) [RCV000406809]benign221808960518089606Human1name
11630962CV351148deletionNM_001127649.3(PEX26):c.*2807_*2808delPeroxisome biogenesis disorder 1A (Zellweger) [RCV000363590]uncertain significance221809088218090883Human1name
152091708CV1567657single nucleotide variantNM_001127649.3(PEX26):c.12T>C (p.Asp4=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002212817]likely benign221807838818078388Human1name
152091714CV1567658single nucleotide variantNM_001127649.3(PEX26):c.15T>C (p.Ser5=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002212818]likely benign221807839118078391Human1name
402497262CV3092733single nucleotide variantNM_001127649.3(PEX26):c.18G>A (p.Ser6=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003788196]likely benign221807839418078394Human1name
127331868CV1128983single nucleotide variantNM_001127649.3(PEX26):c.36C>T (p.Leu12=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001471825]likely benign221807841218078412Human1name
151881648CV1375671single nucleotide variantNM_001127649.3(PEX26):c.66C>T (p.Ser22=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001961770]likely benign|uncertain significance221807844218078442Human1name
152166107CV1532489single nucleotide variantNM_001127649.3(PEX26):c.30C>T (p.Ala10=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002204379]likely benign221807840618078406Human1name
152049210CV1585509single nucleotide variantNM_001127649.3(PEX26):c.99G>A (p.Pro33=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002145463]likely benign221807847518078475Human1name
152152642CV1623252single nucleotide variantNM_001127649.3(PEX26):c.39G>A (p.Arg13=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002221054]likely benign221807841518078415Human1name
152121152CV1641266microsatelliteNM_001127649.3(PEX26):c.814+18_814+19delPeroxisome biogenesis disorder 7A (Zellweger) [RCV002198069]likely benign221808527318085274Humanname
8595641CV17195single nucleotide variantNM_001127649.3(PEX26):c.2T>C (p.Met1Thr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV000779366]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV005024990]|Peroxisome biogenesis disorder 7B [RCV000002239]|not provided [RCV002269256]pathogenic|likely pathogenic221807837818078378Human2name
156386169CV1874958microsatelliteNM_001127649.3(PEX26):c.668-16_668-15delPeroxisome biogenesis disorder 7A (Zellweger) [RCV003050873]likely benign221808509418085095Humanname
156023289CV2019487single nucleotide variantNM_001127649.3(PEX26):c.55C>T (p.Leu19=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002691104]likely benign221807843118078431Human1name
155905397CV2048090single nucleotide variantNM_001127649.3(PEX26):c.48G>A (p.Gly16=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002771235]likely benign221807842418078424Human1name
156158485CV2095022single nucleotide variantNM_001127649.3(PEX26):c.57G>A (p.Leu19=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002890896]likely benign221807843318078433Human1name
156211204CV2114452single nucleotide variantNM_001127649.3(PEX26):c.75G>A (p.Val25=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002932069]likely benign221807845118078451Human1name
156283349CV2133955single nucleotide variantNM_001127649.3(PEX26):c.33C>T (p.Pro11=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003009677]likely benign221807840918078409Human1name
156368009CV2177853microsatelliteNM_001127649.3(PEX26):c.371+10_371+12delPeroxisome biogenesis disorder 7A (Zellweger) [RCV003049480]likely benign221808002018080022Humanname
156270613CV2178978single nucleotide variantNM_001127649.3(PEX26):c.63C>T (p.Ser21=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003044439]likely benign221807843918078439Human1name
156371384CV2188724single nucleotide variantNM_001127649.3(PEX26):c.84C>G (p.Val28=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003066312]likely benign221807846018078460Human1name
402520410CV3091932single nucleotide variantNM_001127649.3(PEX26):c.78C>G (p.Arg26=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003790378]likely benign221807845418078454Human1name
405025365CV3097760single nucleotide variantNM_001127649.3(PEX26):c.36C>G (p.Leu12=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003806221]likely benign221807841218078412Human1name
405025510CV3097772single nucleotide variantNM_001127649.3(PEX26):c.84C>T (p.Val28=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003806233]likely benign221807846018078460Human1name
405033347CV3098725single nucleotide variantNM_001127649.3(PEX26):c.96G>T (p.Ala32=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003806851]likely benign221807847218078472Human1name
405017131CV3100720single nucleotide variantNM_001127649.3(PEX26):c.45C>T (p.Leu15=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003805468]likely benign221807842118078421Human1name
405002999CV3102126single nucleotide variantNM_001127649.3(PEX26):c.87G>C (p.Pro29=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003804172]likely benign221807846318078463Human1name
405169501CV3104236single nucleotide variantNM_001127649.3(PEX26):c.30C>A (p.Ala10=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003802913]likely benign221807840618078406Human1name
405171946CV3104608single nucleotide variantNM_001127649.3(PEX26):c.87G>A (p.Pro29=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003803106]likely benign221807846318078463Human1name
405058323CV3108235single nucleotide variantNM_001127649.3(PEX26):c.69G>A (p.Glu23=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003808813]likely benign221807844518078445Human1name
405072161CV3111481single nucleotide variantNM_001127649.3(PEX26):c.36C>A (p.Leu12=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003809820]likely benign221807841218078412Human1name
405109857CV3112578single nucleotide variantNM_001127649.3(PEX26):c.72G>A (p.Pro24=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003813421]likely benign221807844818078448Human1name
405011391CV3113915single nucleotide variantNM_001127649.3(PEX26):c.90C>T (p.Ala30=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003804937]likely benign221807846618078466Human1name
405262029CV3216540single nucleotide variantNM_001127649.3(PEX26):c.87G>T (p.Pro29=)PEX26-related disorder [RCV003944652]likely benign221807846318078463Humanname , trait , alternate_id
597920905CV3865535single nucleotide variantNM_001127649.3(PEX26):c.78C>T (p.Arg26=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005223480]likely benign221807845418078454Human1name
597922619CV3867220single nucleotide variantNM_001127649.3(PEX26):c.3G>A (p.Met1Ile)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005223646]pathogenic221807837918078379Human1name
597865324CV3872611single nucleotide variantNM_001127649.3(PEX26):c.33C>A (p.Pro11=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005214886]likely benign221807840918078409Human1name
597927035CV3874070single nucleotide variantNM_001127649.3(PEX26):c.54C>T (p.Pro18=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005224342]likely benign221807843018078430Human1name
13516478CV491406single nucleotide variantNM_001127649.3(PEX26):c.99G>C (p.Pro33=)PEX26-related disorder [RCV003962694]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002062059]|not provided [RCV000595573]likely benign|uncertain significance221807847518078475Human2name , trait , alternate_id
13833002CV584229single nucleotide variantNM_001127649.3(PEX26):c.48G>T (p.Gly16=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002060968]|not provided [RCV000728127]likely benign|uncertain significance221807842418078424Human1name
13834485CV585731single nucleotide variantNM_001127649.3(PEX26):c.33C>G (p.Pro11=)PEX26-related disorder [RCV003965517]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002060988]|not provided [RCV000730019]likely benign|uncertain significance221807840918078409Human2name , trait , alternate_id
127282994CV1107579single nucleotide variantNM_001127649.3(PEX26):c.145C>T (p.Leu49=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001448203]likely benign221807852118078521Human1name
127295495CV1128984single nucleotide variantNM_001127649.3(PEX26):c.222C>T (p.Pro74=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001477107]likely benign221807859818078598Human1name
151351610CV1322070deletionNM_001127649.3(PEX26):c.34del (p.Leu12fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001806692]pathogenic221807840518078405Human1name
151826032CV1392199single nucleotide variantNM_001127649.3(PEX26):c.20C>T (p.Thr7Ile)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001879663]uncertain significance221807839618078396Human1name
151733512CV1477571single nucleotide variantNM_001127649.3(PEX26):c.174C>T (p.Cys58=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001967354]likely benign|uncertain significance221807855018078550Human1name
151721389CV1494739single nucleotide variantNM_001127649.3(PEX26):c.105G>A (p.Val35=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001966033]likely benign|uncertain significance221807848118078481Human1name
151865135CV1495030single nucleotide variantNM_001127649.3(PEX26):c.17C>T (p.Ser6Leu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001980622]uncertain significance221807839318078393Human1name
152112255CV1532195single nucleotide variantNM_001127649.3(PEX26):c.150C>T (p.Asp50=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002116703]likely benign221807852618078526Human1name
152031262CV1548672single nucleotide variantNM_001127649.3(PEX26):c.132C>G (p.Leu44=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002086326]likely benign221807850818078508Human1name
152164233CV1557535single nucleotide variantNM_001127649.3(PEX26):c.235T>C (p.Leu79=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002141478]likely benign221807987818079878Human1name
152093349CV1584778single nucleotide variantNM_001127649.3(PEX26):c.277C>T (p.Leu93=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002114376]likely benign221807992018079920Human1name
8556671CV17193duplicationNM_001127649.3(PEX26):c.34dup (p.Leu12fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV000002237]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000821185]|Peroxisome biogenesis disorder 7B [RCV000662021]|Peroxisome biogenesis disorder [RCV000780590]|not provided [RCV000727235]pathogenic221807840418078405Human3name
10045190CV188972single nucleotide variantNM_001127649.3(PEX26):c.228C>T (p.Gly76=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001808443]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001852066]|not provided [RCV000171354]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance221807860418078604Human1name
156217213CV1910711single nucleotide variantNM_001127649.3(PEX26):c.129C>T (p.Asp43=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002596317]likely benign221807850518078505Human1name
156322248CV2101120single nucleotide variantNM_001127649.3(PEX26):c.189G>A (p.Gln63=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002899380]likely benign221807856518078565Human1name
156043924CV2157527single nucleotide variantNM_001127649.3(PEX26):c.276C>A (p.Ala92=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003019164]likely benign221807991918079919Human1name
11578989CV272010single nucleotide variantNM_001127649.3(PEX26):c.198C>T (p.Ala66=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV000293503]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000931054]|not specified [RCV000326011]benign|likely benign|uncertain significance221807857418078574Human1name
401950398CV2834835deletionNM_001127649.3(PEX26):c.71del (p.Pro24fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476823]likely pathogenic221807844618078446Human1name
404989502CV3084097single nucleotide variantNM_001127649.3(PEX26):c.102C>G (p.Ala34=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003782289]|not provided [RCV004573317]likely benign221807847818078478Human1name
402510080CV3087027single nucleotide variantNM_001127649.3(PEX26):c.111T>G (p.Leu37=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003789537]likely benign221807848718078487Human1name
402504291CV3088722deletionNM_001127649.3(PEX26):c.28del (p.Ala10fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003779431]pathogenic221807840418078404Human1name
402488762CV3094291single nucleotide variantNM_001127649.3(PEX26):c.201C>T (p.Asn67=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003787334]likely benign221807857718078577Human1name
405006041CV3098503single nucleotide variantNM_001127649.3(PEX26):c.195G>A (p.Leu65=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003804434]likely benign221807857118078571Human1name
405017140CV3100721single nucleotide variantNM_001127649.3(PEX26):c.162G>T (p.Ala54=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003805469]likely benign221807853818078538Human1name
405073338CV3104033single nucleotide variantNM_001127649.3(PEX26):c.225G>T (p.Ala75=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003799703]likely benign221807860118078601Human1name
405050720CV3107251single nucleotide variantNM_001127649.3(PEX26):c.234A>G (p.Ser78=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003808169]likely benign221807987718079877Human1name
405053298CV3107683single nucleotide variantNM_001127649.3(PEX26):c.126C>T (p.Ala42=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003808428]likely benign221807850218078502Human1name
405087667CV3108036single nucleotide variantNM_001127649.3(PEX26):c.183C>T (p.Ala61=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003800734]likely benign221807855918078559Human1name
405036426CV3108655single nucleotide variantNM_001127649.3(PEX26):c.180G>A (p.Arg60=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807113]likely benign221807855618078556Human1name
405162079CV3109916single nucleotide variantNM_001127649.3(PEX26):c.163C>T (p.Leu55=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003802275]likely benign221807853918078539Human1name
405153206CV3110206single nucleotide variantNM_001127649.3(PEX26):c.279G>A (p.Leu93=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003817726]likely benign221807992218079922Human1name
405153976CV3111193single nucleotide variantNM_001127649.3(PEX26):c.255G>A (p.Leu85=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003801649]likely benign221807989818079898Human1name
405074222CV3111587single nucleotide variantNM_001127649.3(PEX26):c.204C>T (p.His68=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003809927]likely benign221807858018078580Human1name
405128097CV3112131single nucleotide variantNM_001127649.3(PEX26):c.141G>C (p.Val47=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003815605]likely benign221807851718078517Human1name
405039571CV3112740single nucleotide variantNM_001127649.3(PEX26):c.255G>C (p.Leu85=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807407]likely benign221807989818079898Human1name
405042669CV3112996single nucleotide variantNM_001127649.3(PEX26):c.133C>T (p.Leu45=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807663]likely benign221807850918078509Human1name
405082024CV3113506single nucleotide variantNM_001127649.3(PEX26):c.112C>T (p.Leu38=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003810523]likely benign221807848818078488Human1name
11632309CV347065single nucleotide variantNM_001127649.3(PEX26):c.207C>T (p.Ala69=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV000404709]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001080029]|not provided [RCV000594003]likely benign|conflicting interpretations of pathogenicity|uncertain significance221807858318078583Human1name
597713738CV3575714single nucleotide variantNM_001127649.3(PEX26):c.14C>A (p.Ser5Tyr)Inborn genetic diseases [RCV004959479]uncertain significance221807839018078390Human1name
597895521CV3865382single nucleotide variantNM_001127649.3(PEX26):c.178C>A (p.Arg60=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005219505]likely benign221807855418078554Human1name
597877040CV3871531single nucleotide variantNM_001127649.3(PEX26):c.177G>A (p.Glu59=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005216747]likely benign221807855318078553Human1name
597853667CV3873805single nucleotide variantNM_001127649.3(PEX26):c.168G>A (p.Glu56=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005228590]likely benign221807854418078544Human1name
597874282CV3874880single nucleotide variantNM_001127649.3(PEX26):c.222C>G (p.Pro74=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005216356]likely benign221807859818078598Human1name
13834131CV585373single nucleotide variantNM_001127649.3(PEX26):c.243G>T (p.Val81=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002535121]|not provided [RCV000729569]likely benign|uncertain significance221807988618079886Human1name
8628640CV83784single nucleotide variantNM_017929.5(PEX26):c.766C>G (p.Leu256Val)Malignant melanoma [RCV000063865]not provided221808521018085210Humanname
38472514CV951322single nucleotide variantNM_001127649.3(PEX26):c.23C>T (p.Ser8Phe)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001231543]uncertain significance221807839918078399Human1name
126763621CV999319single nucleotide variantNM_001127649.3(PEX26):c.267G>T (p.Gly89=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001300776]likely benign|uncertain significance221807991018079910Human1name
8642791CV101775single nucleotide variantNM_001127649.3(PEX26):c.669C>A (p.Gly223=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002055214]|not provided [RCV000081926]likely benign|uncertain significance221808511318085113Human1name
126772213CV1035017single nucleotide variantNM_001127649.3(PEX26):c.40G>A (p.Gly14Arg)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001345489]uncertain significance221807841618078416Human1name
126773141CV1035018single nucleotide variantNM_001127649.3(PEX26):c.71C>T (p.Pro24Leu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001346017]uncertain significance221807844718078447Human1name
127269487CV1107580single nucleotide variantNM_001127649.3(PEX26):c.381A>G (p.Leu127=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001441085]likely benign221808344618083446Human1name
127265544CV1107581single nucleotide variantNM_001127649.3(PEX26):c.489C>T (p.His163=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001439990]likely benign221808355418083554Human1name
127266887CV1107582single nucleotide variantNM_001127649.3(PEX26):c.699G>C (p.Pro233=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001429498]likely benign221808514318085143Human1name
127295525CV1159066single nucleotide variantNM_001127649.3(PEX26):c.501G>A (p.Val167=)PEX26-related disorder [RCV003931058]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001512232]benign|likely benign221808356618083566Human2name , trait , alternate_id
151831529CV1343653single nucleotide variantNM_001127649.3(PEX26):c.804A>G (p.Arg268=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001920537]likely benign|uncertain significance221808524818085248Human1name
151800375CV1344057single nucleotide variantNM_001127649.3(PEX26):c.77G>T (p.Arg26Leu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002028032]uncertain significance221807845318078453Human1name
151797185CV1346422single nucleotide variantNM_001127649.3(PEX26):c.74T>G (p.Val25Gly)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001990610]uncertain significance221807845018078450Human1name
151842520CV1359367single nucleotide variantNM_001127649.3(PEX26):c.47G>A (p.Gly16Glu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002015510]uncertain significance221807842318078423Human1name
151859360CV1389601single nucleotide variantNM_001127649.3(PEX26):c.86C>A (p.Pro29Gln)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001905084]uncertain significance221807846218078462Human1name
151713448CV1394853single nucleotide variantNM_001127649.3(PEX26):c.79G>A (p.Ala27Thr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001889857]uncertain significance221807845518078455Human1name
151794204CV1394912deletionNM_001127649.3(PEX26):c.-3_1del (p.Met1fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001973330]likely pathogenic221807837418078377Humanname
151802181CV1404865single nucleotide variantNM_001127649.3(PEX26):c.50G>A (p.Gly17Glu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001932414]uncertain significance221807842618078426Human1name
151765106CV1407751single nucleotide variantNM_001127649.3(PEX26):c.35T>A (p.Leu12His)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002044700]uncertain significance221807841118078411Human1name
151808653CV1423406single nucleotide variantNM_001127649.3(PEX26):c.77G>A (p.Arg26His)Inborn genetic diseases [RCV004955981]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002012217]uncertain significance221807845318078453Human2name
151758419CV1443648single nucleotide variantNM_001127649.3(PEX26):c.98C>G (p.Pro33Arg)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001872959]uncertain significance221807847418078474Human1name
151750203CV1457175single nucleotide variantNM_001127649.3(PEX26):c.759A>G (p.Lys253=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001912907]likely benign|uncertain significance221808520318085203Human1name
151852311CV1459551single nucleotide variantNM_001127649.3(PEX26):c.52C>A (p.Pro18Thr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002033340]uncertain significance221807842818078428Human1name
151791040CV1475537single nucleotide variantNM_001127649.3(PEX26):c.52C>T (p.Pro18Ser)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001973056]uncertain significance221807842818078428Human1name
151724105CV1500406single nucleotide variantNM_001127649.3(PEX26):c.56T>C (p.Leu19Pro)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001910121]uncertain significance221807843218078432Human1name
151732117CV1512510single nucleotide variantNM_001127649.3(PEX26):c.53C>T (p.Pro18Leu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002041312]uncertain significance221807842918078429Human1name
152025797CV1528023single nucleotide variantNM_001127649.3(PEX26):c.396A>G (p.Gln132=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002084584]likely benign221808346118083461Human1name
152112168CV1539208single nucleotide variantNM_001127649.3(PEX26):c.312C>T (p.Ser104=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002080400]likely benign221807995518079955Human1name
152129543CV1549302single nucleotide variantNM_001127649.3(PEX26):c.402T>C (p.Pro134=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002099297]likely benign221808346718083467Human1name
152111324CV1551401single nucleotide variantNM_001127649.3(PEX26):c.348A>G (p.Leu116=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002196813]likely benign221807999118079991Human1name
152030192CV1570786single nucleotide variantNM_001127649.3(PEX26):c.801G>A (p.Val267=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002105847]likely benign221808524518085245Human1name
152070018CV1600997single nucleotide variantNM_001127649.3(PEX26):c.540A>C (p.Leu180=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002091458]likely benign221808360518083605Human1name
152100008CV1606654single nucleotide variantNM_001127649.3(PEX26):c.462A>T (p.Pro154=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002195427]likely benign221808352718083527Human1name
152158248CV1616103single nucleotide variantNM_001127649.3(PEX26):c.511C>T (p.Leu171=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002159166]likely benign221808357618083576Human1name
152149651CV1616873single nucleotide variantNM_001127649.3(PEX26):c.351C>T (p.Pro117=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002201771]likely benign221807999418079994Human1name
152028760CV1655388single nucleotide variantNM_001127649.3(PEX26):c.783C>T (p.Ile261=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002105349]likely benign221808522718085227Human1name
152063339CV1664028single nucleotide variantNM_001127649.3(PEX26):c.891C>G (p.Arg297=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002073947]likely benign221808804818088048Human1name
8556673CV17197duplicationNM_001127649.3(PEX26):c.254dup (p.Cys86fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV000002243]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002512674]|Peroxisome biogenesis disorder 7B [RCV000002241]pathogenic221807989618079897Human2name
155717963CV1775488single nucleotide variantNM_001127649.3(PEX26):c.35T>C (p.Leu12Pro)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002301157]uncertain significance221807841118078411Human1name
156409290CV1873928single nucleotide variantNM_001127649.3(PEX26):c.825C>T (p.Ser275=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003071610]likely benign221808798218087982Human1name
156219520CV1924802single nucleotide variantNM_001127649.3(PEX26):c.59G>A (p.Arg20His)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002644346]uncertain significance221807843518078435Human1name
156288658CV1926392single nucleotide variantNM_001127649.3(PEX26):c.91C>T (p.Arg31Trp)Inborn genetic diseases [RCV004961138]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002628720]likely benign|uncertain significance221807846718078467Human2name
156435342CV1940700single nucleotide variantNM_001127649.3(PEX26):c.43C>T (p.Leu15Phe)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003104804]uncertain significance221807841918078419Human1name
156272005CV1970985single nucleotide variantNM_001127649.3(PEX26):c.687C>T (p.Phe229=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002598122]likely benign221808513118085131Human1name
156066844CV2022438single nucleotide variantNM_001127649.3(PEX26):c.864C>T (p.Arg288=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002760195]likely benign221808802118088021Human1name
155937375CV2045949single nucleotide variantNM_001127649.3(PEX26):c.502C>T (p.Leu168=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002751553]likely benign221808356718083567Human1name
155936920CV2058072single nucleotide variantNM_001127649.3(PEX26):c.897C>T (p.Tyr299=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002815435]likely benign221808805418088054Human1name
156046051CV2059842deletionNM_001127649.3(PEX26):c.154del (p.Arg52fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002796609]pathogenic221807852918078529Human1name
155951660CV2076425single nucleotide variantNM_001127649.3(PEX26):c.603A>G (p.Thr201=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002862380]likely benign221808366818083668Human1name
156027359CV2078215single nucleotide variantNM_001127649.3(PEX26):c.477G>A (p.Leu159=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002866899]likely benign221808354218083542Human1name
156140640CV2082301single nucleotide variantNM_001127649.3(PEX26):c.750G>A (p.Leu250=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002871970]likely benign221808519418085194Human1name
156207202CV2131335single nucleotide variantNM_001127649.3(PEX26):c.732G>A (p.Val244=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002985444]uncertain significance221808517618085176Human1name
156228623CV2140823single nucleotide variantNM_001127649.3(PEX26):c.336C>T (p.Val112=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003007656]likely benign221807997918079979Human1name
156035180CV2150124single nucleotide variantNM_001127649.3(PEX26):c.873G>A (p.Arg291=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003018845]likely benign221808803018088030Human1name
156185327CV2164048single nucleotide variantNM_001127649.3(PEX26):c.819C>G (p.Ser273=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003023959]likely benign221808797618087976Human1name
156072620CV2165217single nucleotide variantNM_001127649.3(PEX26):c.354C>G (p.Pro118=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003037613]likely benign221807999718079997Human1name
11644215CV265813single nucleotide variantNM_001127649.3(PEX26):c.29C>T (p.Ala10Val)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001039451]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001142680]|not provided [RCV000407458]uncertain significance221807840518078405Human1name
11640487CV265815single nucleotide variantNM_001127649.3(PEX26):c.558C>T (p.Ala186=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002059084]|not provided [RCV000339692]likely benign|uncertain significance221808362318083623Human1name
11640978CV274107single nucleotide variantNM_001127649.3(PEX26):c.786C>G (p.Leu262=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001435982]|not provided [RCV000348701]likely benign|uncertain significance221808523018085230Human1name
11637873CV275139single nucleotide variantNM_001127649.3(PEX26):c.540A>G (p.Leu180=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001414499]|not provided [RCV000292209]likely benign|conflicting interpretations of pathogenicity|uncertain significance221808360518083605Human1name
404996910CV3085532single nucleotide variantNM_001127649.3(PEX26):c.660C>T (p.Asn220=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003783063]likely benign221808372518083725Human1name
404997818CV3085753single nucleotide variantNM_001127649.3(PEX26):c.579G>A (p.Leu193=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003783123]likely benign221808364418083644Human1name
404999041CV3085796single nucleotide variantNM_001127649.3(PEX26):c.729G>A (p.Ala243=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003783166]likely benign221808517318085173Human1name
402514731CV3087585single nucleotide variantNM_001127649.3(PEX26):c.429C>T (p.Ala143=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003789936]likely benign221808349418083494Human1name
404992538CV3088978single nucleotide variantNM_001127649.3(PEX26):c.444A>G (p.Pro148=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003782622]likely benign221808350918083509Human1name
404992523CV3091415single nucleotide variantNM_001127649.3(PEX26):c.840C>T (p.Leu280=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003792890]likely benign221808799718087997Human1name
404993994CV3091581single nucleotide variantNM_001127649.3(PEX26):c.699G>A (p.Pro233=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003793056]likely benign221808514318085143Human1name
405020280CV3094537single nucleotide variantNM_001127649.3(PEX26):c.525G>A (p.Ser175=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003785228]likely benign221808359018083590Human1name
405010124CV3096601single nucleotide variantNM_001127649.3(PEX26):c.543G>T (p.Val181=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003794590]likely benign221808360818083608Human1name
405006298CV3098527single nucleotide variantNM_001127649.3(PEX26):c.600C>T (p.His200=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003804458]likely benign221808366518083665Human1name
404999936CV3099215single nucleotide variantNM_001127649.3(PEX26):c.894C>T (p.Leu298=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003793636]likely benign221808805118088051Human1name
404981941CV3100021single nucleotide variantNM_001127649.3(PEX26):c.465A>G (p.Glu155=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003791688]likely benign221808353018083530Human1name
405021567CV3101312single nucleotide variantNM_001127649.3(PEX26):c.447C>G (p.Ala149=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003805891]likely benign221808351218083512Human1name
405085063CV3104508single nucleotide variantNM_001127649.3(PEX26):c.744T>C (p.Phe248=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003800566]likely benign221808518818085188Human1name
405088960CV3104948single nucleotide variantNM_001127649.3(PEX26):c.861C>T (p.Phe287=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003800831]likely benign221808801818088018Human1name
405050529CV3107266single nucleotide variantNM_001127649.3(PEX26):c.516C>T (p.Gly172=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003808184]likely benign221808358118083581Human1name
405081910CV3107438single nucleotide variantNM_001127649.3(PEX26):c.688C>T (p.Leu230=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003800308]likely benign221808513218085132Human1name
405055509CV3107881single nucleotide variantNM_001127649.3(PEX26):c.498G>A (p.Arg166=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003808627]likely benign221808356318083563Human1name
405062969CV3108761single nucleotide variantNM_001127649.3(PEX26):c.468T>C (p.Tyr156=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003809171]likely benign221808353318083533Human1name
405008828CV3109011single nucleotide variantNM_001127649.3(PEX26):c.438A>G (p.Gln146=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003804678]likely benign221808350318083503Human1name
405010985CV3109231single nucleotide variantNM_001127649.3(PEX26):c.306C>A (p.Val102=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003804899]likely benign221807994918079949Human1name
405067401CV3110986single nucleotide variantNM_001127649.3(PEX26):c.615G>A (p.Gln205=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003809490]likely benign221808368018083680Human1name
405039801CV3112760single nucleotide variantNM_001127649.3(PEX26):c.543G>A (p.Val181=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807427]likely benign221808360818083608Human1name
405042338CV3112951single nucleotide variantNM_001127649.3(PEX26):c.609G>A (p.Arg203=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807618]likely benign221808367418083674Human1name
405104806CV3113063single nucleotide variantNM_001127649.3(PEX26):c.414G>C (p.Leu138=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003812353]likely benign221808347918083479Human1name
405037797CV3114021single nucleotide variantNM_001127649.3(PEX26):c.741C>T (p.Phe247=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807235]likely benign221808518518085185Human1name
405745718CV3368478single nucleotide variantNM_001127649.3(PEX26):c.92G>A (p.Arg31Gln)Inborn genetic diseases [RCV004498376]uncertain significance221807846818078468Human1name
405870949CV3399078duplicationNM_001127649.3(PEX26):c.211dup (p.Ala71fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV004574509]likely pathogenic221807858518078586Human1name
11628221CV351141insertionNM_001127649.3(PEX26):c.*1661_*1662insACTCPeroxisome biogenesis disorder 1A (Zellweger) [RCV000297780]benign221808973318089734Human1name
596926628CV3539859single nucleotide variantNM_001127649.3(PEX26):c.31C>T (p.Pro11Ser)not provided [RCV004790850]uncertain significance221807840718078407Humanname
597835478CV3864493single nucleotide variantNM_001127649.3(PEX26):c.802A>C (p.Arg268=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005210129]likely benign221808524618085246Human1name
597858105CV3864752single nucleotide variantNM_001127649.3(PEX26):c.525G>T (p.Ser175=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005213808]likely benign221808359018083590Human1name
597842246CV3865021single nucleotide variantNM_001127649.3(PEX26):c.486T>C (p.Phe162=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005211469]likely benign221808355118083551Human1name
597897177CV3866133single nucleotide variantNM_001127649.3(PEX26):c.900G>A (p.Gln300=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005219750]likely benign221808805718088057Human1name
597878445CV3871924single nucleotide variantNM_001127649.3(PEX26):c.777C>T (p.Ala259=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005216975]likely benign221808522118085221Human1name
597840426CV3873515single nucleotide variantNM_001127649.3(PEX26):c.726T>C (p.Ser242=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005226342]likely benign221808517018085170Human1name
597924011CV3877229single nucleotide variantNM_001127649.3(PEX26):c.354C>A (p.Pro118=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005223925]likely benign221807999718079997Human1name
597928811CV3878932single nucleotide variantNM_001127649.3(PEX26):c.384C>T (p.Tyr128=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005224593]likely benign221808344918083449Human1name
13520308CV491813single nucleotide variantNM_001127649.3(PEX26):c.882A>G (p.Ala294=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001082778]|not provided [RCV000598530]benign|conflicting interpretations of pathogenicity|uncertain significance221808803918088039Human1name
13521957CV494182single nucleotide variantNM_001127649.3(PEX26):c.441C>T (p.Asp147=)PEX26-related disorder [RCV003900359]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001078846]|not provided [RCV000591121]likely benign|conflicting interpretations of pathogenicity|uncertain significance221808350618083506Human2name , trait , alternate_id
13833729CV584967single nucleotide variantNM_001127649.3(PEX26):c.318C>G (p.Val106=)PEX26-related disorder [RCV003947916]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001078816]|not provided [RCV000729073]likely benign|conflicting interpretations of pathogenicity|uncertain significance221807996118079961Human2name , trait , alternate_id
13834043CV585283single nucleotide variantNM_001127649.3(PEX26):c.38G>T (p.Arg13Met)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005209521]|not provided [RCV000729457]uncertain significance221807841418078414Human1name
13834053CV585293single nucleotide variantNM_001127649.3(PEX26):c.71C>G (p.Pro24Arg)Inborn genetic diseases [RCV005392334]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001307100]|not provided [RCV000729469]uncertain significance221807844718078447Human2name
13835555CV586815single nucleotide variantNM_001127649.3(PEX26):c.423G>A (p.Val141=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001855659]|not provided [RCV000731392]likely benign|uncertain significance221808348818083488Human1name
13836691CV587969single nucleotide variantNM_001127649.3(PEX26):c.324G>A (p.Gln108=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003768228]|not provided [RCV000732884]likely benign|uncertain significance221807996718079967Human1name
13836784CV588065single nucleotide variantNM_001127649.3(PEX26):c.98C>T (p.Pro33Leu)PEX26-related disorder [RCV004754547]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001137938]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001351715]|not provided [RCV000732996]likely benign|uncertain significance221807847418078474Human2name , trait , alternate_id
13837254CV588541single nucleotide variantNM_001127649.3(PEX26):c.32C>T (p.Pro11Leu)PEX26-related disorder [RCV003918222]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001137937]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001202024]|not provided [RCV000733616]uncertain significance221807840818078408Human2name , trait , alternate_id
13838347CV589649single nucleotide variantNM_001127649.3(PEX26):c.795G>A (p.Leu265=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001855829]|not provided [RCV000735017]likely benign|uncertain significance221808523918085239Human1name
15175232CV773421single nucleotide variantNM_001127649.3(PEX26):c.606G>A (p.Ala202=)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003768863]likely benign221808367118083671Human1name
38483095CV939187single nucleotide variantNM_001127649.3(PEX26):c.77G>C (p.Arg26Pro)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001207514]uncertain significance221807845318078453Human1name
126739206CV999318single nucleotide variantNM_001127649.3(PEX26):c.58C>G (p.Arg20Gly)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001295576]uncertain significance221807843418078434Human1name
126748561CV1014445single nucleotide variantNM_001127649.3(PEX26):c.262G>A (p.Val88Met)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001326365]uncertain significance221807990518079905Human1name
126770601CV1035019single nucleotide variantNM_001127649.3(PEX26):c.148G>C (p.Asp50His)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001344566]uncertain significance221807852418078524Human1name
126747388CV1035020single nucleotide variantNM_001127649.3(PEX26):c.155G>A (p.Arg52Gln)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001351663]uncertain significance221807853118078531Human1name
126921028CV1051989single nucleotide variantNM_001127649.3(PEX26):c.227G>A (p.Gly76Asp)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001363236]uncertain significance221807860318078603Human1name
150546395CV1313723deletionNM_001127649.3(PEX26):c.613del (p.Gln205fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003772139]|not provided [RCV001784821]pathogenic221808367818083678Human1name
151353349CV1326443single nucleotide variantNM_001127649.3(PEX26):c.262G>T (p.Val88Leu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002542476]|not provided [RCV001816315]uncertain significance221807990518079905Human1name
151750337CV1377833single nucleotide variantNM_001127649.3(PEX26):c.122C>T (p.Ala41Val)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002043223]uncertain significance221807849818078498Human1name
151813296CV1382156single nucleotide variantNM_001127649.3(PEX26):c.211G>T (p.Ala71Ser)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001992038]uncertain significance221807858718078587Human1name
151791527CV1389263single nucleotide variantNM_001127649.3(PEX26):c.109C>T (p.Leu37Phe)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002010748]uncertain significance221807848518078485Human1name
151888869CV1402399single nucleotide variantNM_001127649.3(PEX26):c.217G>C (p.Glu73Gln)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001942675]uncertain significance221807859318078593Human1name
151722808CV1406706single nucleotide variantNM_001127649.3(PEX26):c.205G>A (p.Ala69Thr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002003905]uncertain significance221807858118078581Human1name
151834440CV1408319single nucleotide variantNM_001127649.3(PEX26):c.205G>C (p.Ala69Pro)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001935394]uncertain significance221807858118078581Human1name
151815461CV1444671single nucleotide variantNM_001127649.3(PEX26):c.281C>G (p.Ala94Gly)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001933626]uncertain significance221807992418079924Human1name
151718782CV1458756single nucleotide variantNM_001127649.3(PEX26):c.214G>A (p.Glu72Lys)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002003337]uncertain significance221807859018078590Human1name
151844870CV1496483single nucleotide variantNM_001127649.3(PEX26):c.142C>T (p.His48Tyr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001921980]uncertain significance221807851818078518Human1name
151761409CV1502894single nucleotide variantNM_001127649.3(PEX26):c.250T>A (p.Ser84Thr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001914028]uncertain significance221807989318079893Human1name
8595639CV17191single nucleotide variantNM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)PEX26-related disorder [RCV003390634]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000812717]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003472958]|Peroxisome biogenesis disorder 7B [RCV000002234]|Peroxisome biogenesis disorder [RCV000780589]|not propathogenic221807993518079935Human3name , trait , alternate_id
8595640CV17192single nucleotide variantNM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)Peroxisome biogenesis disorder 7A (Zellweger) [RCV000002236]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV005222658]pathogenic|likely pathogenic221807990818079908Human1name
8595642CV17196single nucleotide variantNM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)Peroxisome biogenesis disorder 7A (Zellweger) [RCV000351940]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001298874]|Peroxisome biogenesis disorder 7B [RCV000002240]|Peroxisome biogenesis disorder [RCV004700179]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance221807851018078510Human3name
155716281CV1774176single nucleotide variantNM_001127649.3(PEX26):c.174C>G (p.Cys58Trp)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002296449]uncertain significance221807855018078550Human1name
155684145CV1776862single nucleotide variantNM_001127649.3(PEX26):c.227G>T (p.Gly76Val)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002298390]uncertain significance221807860318078603Human1name
156380633CV1899774single nucleotide variantNM_001127649.3(PEX26):c.103G>A (p.Val35Met)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003093244]uncertain significance221807847918078479Human1name
155952504CV1922047single nucleotide variantNM_001127649.3(PEX26):c.179G>A (p.Arg60Gln)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002616299]uncertain significance221807855518078555Human1name
10048184CV192498single nucleotide variantNM_001127649.3(PEX26):c.130C>T (p.Leu44Phe)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001085384]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001137939]|not provided [RCV000224312]|not specified [RCV000175899]benign|likely benign|conflicting interpretations of pathogenicity221807850618078506Human1name
156235479CV2021621single nucleotide variantNM_001127649.3(PEX26):c.107A>G (p.Asp36Gly)Inborn genetic diseases [RCV002716411]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002745472]uncertain significance221807848318078483Human2name
156016875CV2035330single nucleotide variantNM_001127649.3(PEX26):c.245A>G (p.Lys82Arg)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002780451]uncertain significance221807988818079888Human1name
156239907CV2047389single nucleotide variantNM_001127649.3(PEX26):c.218A>T (p.Glu73Val)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002805638]uncertain significance221807859418078594Human1name
155936466CV2058043single nucleotide variantNM_001127649.3(PEX26):c.224C>G (p.Ala75Gly)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002815406]uncertain significance221807860018078600Human1name
156180456CV2058532single nucleotide variantNM_001127649.3(PEX26):c.224C>T (p.Ala75Val)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002828286]uncertain significance221807860018078600Human1name
156132049CV2073043deletionNM_001127649.3(PEX26):c.443del (p.Pro148fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002825709]pathogenic221808350618083506Human1name
156002182CV2074687single nucleotide variantNM_001127649.3(PEX26):c.175G>A (p.Glu59Lys)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002843457]uncertain significance221807855118078551Human1name
156074708CV2102150single nucleotide variantNM_001127649.3(PEX26):c.119A>G (p.Glu40Gly)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002912499]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003225773]uncertain significance221807849518078495Human1name
156133308CV2113139single nucleotide variantNM_001127649.3(PEX26):c.274G>A (p.Ala92Thr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002928284]uncertain significance221807991718079917Human1name
156229506CV2121970single nucleotide variantNM_001127649.3(PEX26):c.121G>A (p.Ala41Thr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002958453]uncertain significance221807849718078497Human1name
156246867CV2168657single nucleotide variantNM_001127649.3(PEX26):c.237G>C (p.Leu79Phe)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003026205]uncertain significance221807988018079880Human1name
156194978CV2171469single nucleotide variantNM_001127649.3(PEX26):c.145C>G (p.Leu49Val)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003024255]uncertain significance221807852118078521Human1name
156364696CV2176825single nucleotide variantNM_001127649.3(PEX26):c.236T>C (p.Leu79Ser)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003049260]uncertain significance221807987918079879Human1name
156073918CV2177132single nucleotide variantNM_001127649.3(PEX26):c.283G>A (p.Glu95Lys)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003053802]uncertain significance221807992618079926Human1name
156326448CV2219613single nucleotide variantNM_001127649.3(PEX26):c.110T>G (p.Leu37Arg)Inborn genetic diseases [RCV002717468]uncertain significance221807848618078486Human1name
11639180CV267825duplicationNM_001127649.3(PEX26):c.895dup (p.Tyr299fs)PEX26-related disorder [RCV003417890]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001063738]|Peroxisome biogenesis disorder [RCV005355590]|not provided [RCV000316448]uncertain significance221808805118088052Human3name , trait , alternate_id
11580611CV272698single nucleotide variantNM_001127649.3(PEX26):c.200A>G (p.Asn67Ser)PEX26-related disorder [RCV003930152]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000338698]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000765604]|not provided [RCV000726167]likely benign|conflicting interpretations of pathogenicity|uncertain significance221807857618078576Human2name , trait , alternate_id
405004184CV3082651single nucleotide variantNM_001127649.3(PEX26):c.256T>C (p.Cys86Arg)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003783750]|not specified [RCV005063166]likely pathogenic|uncertain significance221807989918079899Human1name
405013031CV3093525duplicationNM_001127649.3(PEX26):c.354dup (p.Lys119fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003784529]pathogenic221807999118079992Human1name
405046363CV3097320deletionNM_001127649.3(PEX26):c.396del (p.Glu133fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807900]pathogenic221808346018083460Human1name
405043827CV3101023single nucleotide variantNM_001127649.3(PEX26):c.297G>A (p.Trp99Ter)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807723]pathogenic221807994018079940Human1name
405129336CV3110818deletionNM_001127649.3(PEX26):c.344del (p.Lys115fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003815697]pathogenic221807998418079984Human1name
405870947CV3399079deletionNM_001127649.3(PEX26):c.380del (p.Leu127fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV004574510]likely pathogenic221808344218083442Human1name
11631871CV347064single nucleotide variantNM_001127649.3(PEX26):c.153C>A (p.Phe51Leu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV000391295]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001861193]|not provided [RCV000678492]|not specified [RCV004525920]uncertain significance221807852918078529Human1name
11628313CV347066single nucleotide variantNM_001127649.3(PEX26):c.208G>T (p.Val70Leu)PEX26-related disorder [RCV004754404]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000299016]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001321237]uncertain significance221807858418078584Human2name , trait , alternate_id
596928080CV3541357deletionNM_001127649.3(PEX26):c.332del (p.Gln111fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV004797228]likely pathogenic221807997518079975Human1name
596946018CV3550332single nucleotide variantNM_001127649.3(PEX26):c.187C>A (p.Gln63Lys)Peroxisome biogenesis disorder 7B [RCV004818872]uncertain significance221807856318078563Human1name
12791651CV362314single nucleotide variantNM_001127649.3(PEX26):c.296G>A (p.Trp99Ter)Peroxisome biogenesis disorder 7A (Zellweger) [RCV000416954]pathogenic221807993918079939Human1name
597667374CV3726946deletionNM_001127649.3(PEX26):c.519del (p.Leu174fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005029227]likely pathogenic221808358418083584Human1name
597667383CV3726947deletionNM_001127649.3(PEX26):c.580del (p.Asp194fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005029228]likely pathogenic221808364418083644Human1name
597892219CV3868012duplicationNM_001127649.3(PEX26):c.297dup (p.Gln100fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005219040]pathogenic221807993818079939Human1name
597865802CV3868843duplicationNM_001127649.3(PEX26):c.575dup (p.Leu193fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005214963]pathogenic221808363918083640Human1name
597848262CV3872808single nucleotide variantNM_001127649.3(PEX26):c.214G>T (p.Glu72Ter)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005212445]pathogenic221807859018078590Human1name
598122146CV3884224single nucleotide variantNM_001127649.3(PEX26):c.131T>C (p.Leu44Pro)Peroxisome biogenesis disorder [RCV005236914]likely pathogenic221807850718078507Human1name
598261885CV3999680single nucleotide variantNM_001127649.3(PEX26):c.275C>T (p.Ala92Val)Inborn genetic diseases [RCV005386981]uncertain significance221807991818079918Human1name
13518120CV488062single nucleotide variantNM_001127649.3(PEX26):c.185G>A (p.Trp62Ter)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003767341]|Peroxisome biogenesis disorder [RCV000589459]pathogenic|likely pathogenic221807856118078561Human3name
13522757CV492934single nucleotide variantNM_001127649.3(PEX26):c.119A>C (p.Glu40Ala)Inborn genetic diseases [RCV002532597]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001341513]|not provided [RCV000592145]uncertain significance221807849518078495Human2name
13837674CV588964single nucleotide variantNM_001127649.3(PEX26):c.120G>C (p.Glu40Asp)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001855802]|not provided [RCV000734162]uncertain significance221807849618078496Human1name
26901123CV849024single nucleotide variantNM_001127649.3(PEX26):c.239A>T (p.Glu80Val)Inborn genetic diseases [RCV004958409]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001049773]uncertain significance221807988218079882Human2name
38467943CV951323single nucleotide variantNM_001127649.3(PEX26):c.169A>G (p.Thr57Ala)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001230516]uncertain significance221807854518078545Human1name
38498005CV951324deletionNM_001127649.3(PEX26):c.354del (p.Val120fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001227495]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003473790]pathogenic|likely pathogenic221807999218079992Human1name
126771570CV1014446single nucleotide variantNM_001127649.3(PEX26):c.310T>A (p.Ser104Thr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001323238]uncertain significance221807995318079953Human1name
126732449CV1014447single nucleotide variantNM_001127649.3(PEX26):c.758A>G (p.Lys253Arg)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001313220]uncertain significance221808520218085202Human1name
126766819CV1014448single nucleotide variantNM_001127649.3(PEX26):c.784C>T (p.Leu262Phe)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001320600]uncertain significance221808522818085228Human1name
8642790CV101774single nucleotide variantNM_001127649.3(PEX26):c.457C>G (p.Leu153Val)Peroxisome biogenesis disorder 1A (Zellweger) [RCV000990373]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001083527]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001140190]|not provided [RCV000676115]|not specified [RCV000081925]benign|likely benign221808352218083522Human2name
8642792CV101776single nucleotide variantNM_001127649.3(PEX26):c.728C>T (p.Ala243Val)Peroxisome biogenesis disorder 7A (Zellweger) [RCV000359739]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001079497]|not provided [RCV000081927]|not specified [RCV000259059]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance221808517218085172Human1name
126768622CV1035021single nucleotide variantNM_001127649.3(PEX26):c.490G>A (p.Val164Met)Inborn genetic diseases [RCV004960824]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001343461]uncertain significance221808355518083555Human2name
126770974CV1035022single nucleotide variantNM_001127649.3(PEX26):c.857T>C (p.Leu286Pro)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001344777]uncertain significance221808801418088014Human1name
126919895CV1051990single nucleotide variantNM_001127649.3(PEX26):c.401C>T (p.Pro134Leu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001373492]uncertain significance221808346618083466Human1name
151662163CV1330272single nucleotide variantNM_001127649.3(PEX26):c.349C>A (p.Pro117Thr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001823684]likely pathogenic221807999218079992Human1name
151811223CV1340944single nucleotide variantNM_001127649.3(PEX26):c.685T>C (p.Phe229Leu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001974793]uncertain significance221808512918085129Human1name
151866656CV1342227single nucleotide variantNM_001127649.3(PEX26):c.601A>G (p.Thr201Ala)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001997815]uncertain significance221808366618083666Human1name
151859630CV1344014single nucleotide variantNM_001127649.3(PEX26):c.515G>C (p.Gly172Ala)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002034205]uncertain significance221808358018083580Human1name
151747361CV1345227single nucleotide variantNM_001127649.3(PEX26):c.761A>T (p.Lys254Met)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001893940]uncertain significance221808520518085205Human1name
151735632CV1354739single nucleotide variantNM_001127649.3(PEX26):c.425G>A (p.Gly142Asp)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001892723]uncertain significance221808349018083490Human1name
151866182CV1354740single nucleotide variantNM_001127649.3(PEX26):c.742T>G (p.Phe248Val)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001924630]uncertain significance221808518618085186Human1name
151880498CV1360048single nucleotide variantNM_001127649.3(PEX26):c.799G>A (p.Val267Met)Inborn genetic diseases [RCV004044894]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002036803]uncertain significance221808524318085243Human2name
151878306CV1370043single nucleotide variantNM_001127649.3(PEX26):c.877G>A (p.Ala293Thr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001961319]uncertain significance221808803418088034Human1name
151845279CV1372521single nucleotide variantNM_001127649.3(PEX26):c.547G>A (p.Gly183Ser)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001995249]uncertain significance221808361218083612Human1name
151813531CV1373222single nucleotide variantNM_001127649.3(PEX26):c.904C>T (p.Arg302Cys)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001900186]uncertain significance221808806118088061Human1name
151863444CV1374412single nucleotide variantNM_001127649.3(PEX26):c.738C>A (p.His246Gln)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001884234]uncertain significance221808518218085182Human1name
151835541CV1374759single nucleotide variantNM_001127649.3(PEX26):c.388A>C (p.Lys130Gln)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001920933]uncertain significance221808345318083453Human1name
151717840CV1380629single nucleotide variantNM_001127649.3(PEX26):c.788G>C (p.Cys263Ser)Inborn genetic diseases [RCV005382323]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002003187]uncertain significance221808523218085232Human2name
151790734CV1389163single nucleotide variantNM_001127649.3(PEX26):c.764G>A (p.Ser255Asn)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002010678]uncertain significance221808520818085208Human1name
151785684CV1397183single nucleotide variantNM_001127649.3(PEX26):c.871C>T (p.Arg291Trp)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001930872]uncertain significance221808802818088028Human1name
151859440CV1403717single nucleotide variantNM_001127649.3(PEX26):c.748C>G (p.Leu250Val)Inborn genetic diseases [RCV004651865]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001996941]uncertain significance221808519218085192Human2name
151868687CV1415522single nucleotide variantNM_001127649.3(PEX26):c.653A>G (p.Lys218Arg)Inborn genetic diseases [RCV002553654]|PEX26-related disorder [RCV003948801]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001884859]uncertain significance221808371818083718Human3name , trait , alternate_id
151781151CV1418941single nucleotide variantNM_001127649.3(PEX26):c.680A>T (p.His227Leu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001915893]|not provided [RCV004793591]uncertain significance221808512418085124Human1name
151775509CV1420042single nucleotide variantNM_001127649.3(PEX26):c.374T>C (p.Ile125Thr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001988652]uncertain significance221808343918083439Human1name
151880146CV1421224single nucleotide variantNM_001127649.3(PEX26):c.433C>A (p.Leu145Ile)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001886355]uncertain significance221808349818083498Human1name
151758535CV1421572single nucleotide variantNM_001127649.3(PEX26):c.692C>T (p.Ser231Leu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001895039]uncertain significance221808513618085136Human1name
151824134CV1429299single nucleotide variantNM_001127649.3(PEX26):c.352C>G (p.Pro118Ala)PEX26-related disorder [RCV003395315]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001993074]uncertain significance221807999518079995Human2name , trait , alternate_id
151817838CV1436036single nucleotide variantNM_001127649.3(PEX26):c.751C>G (p.Pro251Ala)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001975433]uncertain significance221808519518085195Human1name
151801127CV1442240single nucleotide variantNM_001127649.3(PEX26):c.745T>C (p.Ser249Pro)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002011581]uncertain significance221808518918085189Human1name
151810148CV1446391single nucleotide variantNM_001127649.3(PEX26):c.667G>A (p.Gly223Ser)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002012355]uncertain significance221808373218083732Human1name
151850815CV1450507single nucleotide variantNM_001127649.3(PEX26):c.587T>A (p.Leu196His)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001922756]uncertain significance221808365218083652Human1name
151754879CV1453896single nucleotide variantNM_001127649.3(PEX26):c.697C>T (p.Pro233Ser)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001913351]uncertain significance221808514118085141Human1name
151875312CV1466765single nucleotide variantNM_001127649.3(PEX26):c.776C>T (p.Ala259Val)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001885783]uncertain significance221808522018085220Human1name
151826677CV1471757single nucleotide variantNM_001127649.3(PEX26):c.641A>G (p.Glu214Gly)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002030397]uncertain significance221808370618083706Human1name
151779177CV1472340single nucleotide variantNM_001127649.3(PEX26):c.673G>A (p.Val225Ile)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002026095]uncertain significance221808511718085117Human1name
151722000CV1489650single nucleotide variantNM_001127649.3(PEX26):c.627A>T (p.Glu209Asp)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001891242]uncertain significance221808369218083692Human1name
151809052CV1500880single nucleotide variantNM_001127649.3(PEX26):c.524C>T (p.Ser175Leu)Inborn genetic diseases [RCV002561534]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001974599]uncertain significance221808358918083589Human2name
151770211CV1502421single nucleotide variantNM_001127649.3(PEX26):c.353C>A (p.Pro118His)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001896264]uncertain significance221807999618079996Human1name
153303400CV1686208single nucleotide variantNM_001127649.3(PEX26):c.890G>A (p.Arg297His)Inborn genetic diseases [RCV003250479]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003095884]|not provided [RCV002261641]uncertain significance221808804718088047Human2name
155669560CV1770923single nucleotide variantNM_001127649.3(PEX26):c.393G>A (p.Met131Ile)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002297260]uncertain significance221808345818083458Human1name
156348249CV1868570single nucleotide variantNM_001127649.3(PEX26):c.350C>T (p.Pro117Leu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003064643]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003475499]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance221807999318079993Human1name
156354744CV1894690single nucleotide variantNM_001127649.3(PEX26):c.832C>T (p.His278Tyr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003091257]uncertain significance221808798918087989Human1name
10052204CV194477single nucleotide variantNM_001127649.3(PEX26):c.643G>A (p.Glu215Lys)PEX26-related disorder [RCV003927659]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000302632]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000983944]|not specified [RCV000178314]benign|likely benign|uncertain significance221808370818083708Human2name , trait , alternate_id
156437580CV1947586single nucleotide variantNM_001127649.3(PEX26):c.904C>G (p.Arg302Gly)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003107119]uncertain significance221808806118088061Human1name
156181610CV1953511single nucleotide variantNM_001127649.3(PEX26):c.448A>G (p.Asn150Asp)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002574132]uncertain significance221808351318083513Human1name
156209509CV1959553single nucleotide variantNM_001127649.3(PEX26):c.473C>A (p.Ala158Asp)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002575096]uncertain significance221808353818083538Human1name
156255440CV1981799single nucleotide variantNM_001127649.3(PEX26):c.494A>G (p.Gln165Arg)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002646036]uncertain significance221808355918083559Human1name
156264475CV1993829single nucleotide variantNM_001127649.3(PEX26):c.872G>A (p.Arg291Gln)Inborn genetic diseases [RCV004958670]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002646326]uncertain significance221808802918088029Human2name
156365077CV2010667single nucleotide variantNM_001127649.3(PEX26):c.905G>A (p.Arg302His)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002676504]uncertain significance221808806218088062Human1name
156297674CV2017144single nucleotide variantNM_001127649.3(PEX26):c.493C>A (p.Gln165Lys)Inborn genetic diseases [RCV005382463]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002715916]uncertain significance221808355818083558Human2name
156160814CV2033842single nucleotide variantNM_001127649.3(PEX26):c.629A>G (p.His210Arg)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002741537]uncertain significance221808369418083694Human1name
156086333CV2034086single nucleotide variantNM_001127649.3(PEX26):c.577C>A (p.Leu193Met)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002760789]uncertain significance221808364218083642Human1name
155911040CV2037580single nucleotide variantNM_001127649.3(PEX26):c.887C>A (p.Ser296Tyr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002771586]uncertain significance221808804418088044Human1name
156204869CV2063078single nucleotide variantNM_001127649.3(PEX26):c.331C>A (p.Gln111Lys)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002829075]uncertain significance221807997418079974Human1name
156367011CV2116737single nucleotide variantNM_001127649.3(PEX26):c.412C>A (p.Leu138Met)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002942028]uncertain significance221808347718083477Human1name
156032371CV2117672single nucleotide variantNM_001127649.3(PEX26):c.337C>T (p.Pro113Ser)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002923570]uncertain significance221807998018079980Human1name
156035938CV2132877single nucleotide variantNM_001127649.3(PEX26):c.784C>G (p.Leu262Val)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002999331]uncertain significance221808522818085228Human1name
156094639CV2135723single nucleotide variantNM_001127649.3(PEX26):c.913G>A (p.Asp305Asn)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003001968]uncertain significance221808807018088070Human1name
156257816CV2142288single nucleotide variantNM_001127649.3(PEX26):c.721G>A (p.Asp241Asn)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002988363]uncertain significance221808516518085165Human1name
156222848CV2144287single nucleotide variantNM_001127649.3(PEX26):c.356A>G (p.Lys119Arg)Inborn genetic diseases [RCV004654082]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003007450]uncertain significance221807999918079999Human2name
155920123CV2148877single nucleotide variantNM_001127649.3(PEX26):c.900G>C (p.Gln300His)Inborn genetic diseases [RCV005382525]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002991861]uncertain significance221808805718088057Human2name
156293686CV2152792single nucleotide variantNM_001127649.3(PEX26):c.598C>T (p.His200Tyr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003010072]uncertain significance221808366318083663Human1name
155911319CV2153229single nucleotide variantNM_001127649.3(PEX26):c.856C>G (p.Leu286Val)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003012276]uncertain significance221808801318088013Human1name
155942160CV2158215single nucleotide variantNM_001127649.3(PEX26):c.563G>C (p.Gly188Ala)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003014340]uncertain significance221808362818083628Human1name
156215751CV2171242single nucleotide variantNM_001127649.3(PEX26):c.620A>C (p.Lys207Thr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003042513]uncertain significance221808368518083685Human1name
155958988CV2172950single nucleotide variantNM_001127649.3(PEX26):c.757A>T (p.Lys253Ter)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003032845]pathogenic221808520118085201Human1name
156234593CV2180625single nucleotide variantNM_001127649.3(PEX26):c.773C>A (p.Ala258Asp)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003043218]uncertain significance221808521718085217Human1name
156300537CV2191520single nucleotide variantNM_001127649.3(PEX26):c.333G>T (p.Gln111His)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003061941]uncertain significance221807997618079976Human1name
329402059CV2453957single nucleotide variantNM_001127649.3(PEX26):c.456C>G (p.Asn152Lys)Inborn genetic diseases [RCV003199022]uncertain significance221808352118083521Human1name
329387739CV2470942single nucleotide variantNM_001127649.3(PEX26):c.305T>C (p.Val102Ala)Inborn genetic diseases [RCV003215413]uncertain significance221807994818079948Human1name
11559797CV260250single nucleotide variantNM_001127649.3(PEX26):c.368T>C (p.Leu123Pro)not provided [RCV000254997]likely pathogenic221808001118080011Humanname
11638732CV269777single nucleotide variantNM_001127649.3(PEX26):c.325T>C (p.Tyr109His)Peroxisome biogenesis disorder 7A (Zellweger) [RCV000960589]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001140188]|not provided [RCV001547434]|not specified [RCV000309036]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance221807996818079968Human1name
11642377CV271334single nucleotide variantNM_001127649.3(PEX26):c.911G>A (p.Arg304His)PEX26-related disorder [RCV003940029]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000650266]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001146685]|not specified [RCV000374196]likely benign|conflicting interpretations of pathogenicity|uncertain significance221808806818088068Human2name , trait , alternate_id
11638100CV271603single nucleotide variantNM_001127649.3(PEX26):c.409G>C (p.Val137Leu)PEX26-related disorder [RCV003920124]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000883540]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001140189]|not provided [RCV001731563]|not specified [RCV000296353]likely benign|conflicting interpretations of pathogenicity|uncertain significance221808347418083474Human2name , trait , alternate_id
11642963CV273427single nucleotide variantNM_001127649.3(PEX26):c.497G>A (p.Arg166Gln)PEX26-related disorder [RCV003977805]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001514036]|not provided [RCV000385335]benign|likely benign|uncertain significance221808356218083562Human2name , trait , alternate_id
401798923CV2742692single nucleotide variantNM_001127649.3(PEX26):c.896A>G (p.Tyr299Cys)Inborn genetic diseases [RCV004961260]|not provided [RCV003325137]uncertain significance221808805318088053Human1name
401927105CV2796885single nucleotide variantNM_001127649.3(PEX26):c.442C>A (p.Pro148Thr)PEX26-related disorder [RCV003406153]uncertain significance221808350718083507Humanname , trait , alternate_id
401950391CV2834828single nucleotide variantNM_001127649.3(PEX26):c.468T>A (p.Tyr156Ter)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476816]likely pathogenic221808353318083533Human1name
401950392CV2834829duplicationNM_001127649.3(PEX26):c.27_58dup (p.Arg20fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476817]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003779068]pathogenic|likely pathogenic221807839818078399Human1name
401950395CV2834832single nucleotide variantNM_001127649.3(PEX26):c.394C>T (p.Gln132Ter)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476820]likely pathogenic221808345918083459Human1name
401950396CV2834833single nucleotide variantNM_001127649.3(PEX26):c.436C>T (p.Gln146Ter)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476821]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003779069]pathogenic221808350118083501Human1name
401950399CV2834836single nucleotide variantNM_001127649.3(PEX26):c.330C>G (p.Tyr110Ter)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476824]likely pathogenic221807997318079973Human1name
405004160CV3082649deletionNM_001127649.3(PEX26):c.37_38del (p.Arg13fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003783748]pathogenic221807841318078414Human1name
405004173CV3082650deletionNM_001127649.3(PEX26):c.73_79del (p.Val25fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003783749]pathogenic221807844718078453Human1name
404985813CV3083554single nucleotide variantNM_001127649.3(PEX26):c.472G>A (p.Ala158Thr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003781904]uncertain significance221808353718083537Human1name
402522872CV3086618single nucleotide variantNM_001127649.3(PEX26):c.855G>C (p.Gln285His)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003781235]uncertain significance221808801218088012Human1name
405042735CV3103722single nucleotide variantNM_001127649.3(PEX26):c.298C>T (p.Gln100Ter)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003797440]pathogenic221807994118079941Human1name
405083756CV3107576single nucleotide variantNM_001127649.3(PEX26):c.468T>G (p.Tyr156Ter)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003800446]pathogenic221808353318083533Human1name
596942329CV3408447single nucleotide variantNM_001127649.3(PEX26):c.566A>G (p.Glu189Gly)Retinal dystrophy [RCV004816118]uncertain significance221808363118083631Human2name
11663156CV347070single nucleotide variantNM_001127649.3(PEX26):c.625G>T (p.Glu209Ter)Peroxisome biogenesis disorder 7A (Zellweger) [RCV000393198]uncertain significance221808369018083690Humanname
407464122CV3470711single nucleotide variantNM_001127649.3(PEX26):c.489C>G (p.His163Gln)Inborn genetic diseases [RCV004659871]uncertain significance221808355418083554Human1name
11628857CV351112single nucleotide variantNM_001127649.3(PEX26):c.889C>T (p.Arg297Cys)PEX26-related disorder [RCV003392214]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000310884]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001861194]uncertain significance221808804618088046Human2name , trait , alternate_id
597654813CV3552155single nucleotide variantNM_001127649.3(PEX26):c.449A>T (p.Asn150Ile)Peroxisome biogenesis disorder 7A (Zellweger) [RCV004821013]likely pathogenic221808351418083514Human1name
597848269CV3872809single nucleotide variantNM_001127649.3(PEX26):c.362T>G (p.Leu121Arg)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005212446]uncertain significance221808000518080005Human1name
616934100CV4012083single nucleotide variantNM_001127649.3(PEX26):c.349C>T (p.Pro117Ser)not specified [RCV005409117]uncertain significance221807999218079992Humanname
616934397CV4012397single nucleotide variantNM_001127649.3(PEX26):c.359T>G (p.Val120Gly)not specified [RCV005409433]uncertain significance221808000218080002Humanname
13475414CV446353single nucleotide variantNM_001127649.3(PEX26):c.353C>G (p.Pro118Arg)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001071380]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476217]|not provided [RCV000519883]|not specified [RCV004767321]likely pathogenic|uncertain significance221807999618079996Human1name
13516273CV489026single nucleotide variantNM_001127649.3(PEX26):c.886T>C (p.Ser296Pro)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001860156]|not provided [RCV000595317]uncertain significance221808804318088043Human1name
13524106CV489599single nucleotide variantNM_001127649.3(PEX26):c.571C>T (p.Arg191Trp)Inborn genetic diseases [RCV002532407]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000765605]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001140192]|not provided [RCV000593848]uncertain significance221808363618083636Human2name
13519616CV489816single nucleotide variantNM_001127649.3(PEX26):c.716T>C (p.Leu239Pro)Inborn genetic diseases [RCV003160016]|PEX26-related disorder [RCV004754483]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001054328]|not provided [RCV000598024]uncertain significance221808516018085160Human3name , trait , alternate_id
13518267CV491407single nucleotide variantNM_001127649.3(PEX26):c.817T>G (p.Ser273Ala)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001370330]|not provided [RCV000597197]uncertain significance221808797418087974Human1name
13523919CV491456single nucleotide variantNM_001127649.3(PEX26):c.461C>T (p.Pro154Leu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001867966]|not provided [RCV000593603]uncertain significance221808352618083526Human1name
13523004CV492400single nucleotide variantNM_001127649.3(PEX26):c.863G>A (p.Arg288His)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001854077]|not provided [RCV000592460]uncertain significance221808802018088020Human1name
13522330CV492858single nucleotide variantNM_001127649.3(PEX26):c.496C>T (p.Arg166Trp)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001204552]|not provided [RCV000591602]uncertain significance221808356118083561Human1name
13515889CV494019single nucleotide variantNM_001127649.3(PEX26):c.662T>A (p.Leu221Gln)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002532673]|not provided [RCV000594849]uncertain significance221808372718083727Human1name
13522578CV494116single nucleotide variantNM_001127649.3(PEX26):c.628C>T (p.His210Tyr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001854117]|not provided [RCV000591912]uncertain significance221808369318083693Human1name
13821260CV575212single nucleotide variantNM_001127649.3(PEX26):c.710G>A (p.Arg237His)Inborn genetic diseases [RCV002532316]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000695632]uncertain significance221808515418085154Human2name
13831612CV582110single nucleotide variantNM_001127649.3(PEX26):c.529G>A (p.Ala177Thr)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001862114]|not provided [RCV000722292]uncertain significance221808359418083594Human1name
13833350CV584582single nucleotide variantNM_001127649.3(PEX26):c.725C>T (p.Ser242Phe)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001862153]|not provided [RCV000728579]uncertain significance221808516918085169Human1name
13834457CV585704single nucleotide variantNM_001127649.3(PEX26):c.662T>G (p.Leu221Arg)Inborn genetic diseases [RCV002535137]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001855745]|not provided [RCV000729985]uncertain significance221808372718083727Human2name
13836993CV588276single nucleotide variantNM_001127649.3(PEX26):c.554C>T (p.Ala185Val)Inborn genetic diseases [RCV002535319]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001140191]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001855777]|not provided [RCV000733269]uncertain significance221808361918083619Human2name
13837688CV588978single nucleotide variantNM_001127649.3(PEX26):c.854A>G (p.Gln285Arg)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001321464]|not provided [RCV000734176]uncertain significance221808801118088011Human1name
26893035CV849025single nucleotide variantNM_001127649.3(PEX26):c.334G>C (p.Val112Leu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001047191]uncertain significance221807997718079977Human1name
26896861CV849026single nucleotide variantNM_001127649.3(PEX26):c.572G>A (p.Arg191Gln)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001070049]uncertain significance221808363718083637Human1name
26917985CV849027single nucleotide variantNM_001127649.3(PEX26):c.910C>T (p.Arg304Cys)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001057414]uncertain significance221808806718088067Human1name
28873283CV890849single nucleotide variantNM_001127649.3(PEX26):c.709C>T (p.Arg237Cys)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001146683]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001882450]uncertain significance221808515318085153Human1name
34895560CV917314single nucleotide variantNM_001127649.3(PEX26):c.574C>T (p.Arg192Ter)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001390132]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003473729]|Peroxisome biogenesis disorder [RCV001192671]|not provided [RCV002307697]pathogenic221808363918083639Human3name
38481236CV939188single nucleotide variantNM_001127649.3(PEX26):c.381A>T (p.Leu127Phe)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001206741]uncertain significance221808344618083446Human1name
38461333CV939189single nucleotide variantNM_001127649.3(PEX26):c.635G>T (p.Gly212Val)PEX26-related disorder [RCV003405396]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001212004]uncertain significance221808370018083700Human2name , trait , alternate_id
38489245CV939190single nucleotide variantNM_001127649.3(PEX26):c.851C>T (p.Ala284Val)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001210121]uncertain significance221808800818088008Human1name
38474097CV951325single nucleotide variantNM_001127649.3(PEX26):c.493C>T (p.Gln165Ter)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001231938]pathogenic221808355818083558Human1name
38474100CV951326single nucleotide variantNM_001127649.3(PEX26):c.506T>C (p.Leu169Pro)Heimler syndrome 1 [RCV001726460]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001231937]|not specified [RCV005408764]uncertain significance221808357118083571Human2name
38459046CV951327single nucleotide variantNM_001127649.3(PEX26):c.569A>G (p.Glu190Gly)Inborn genetic diseases [RCV005384995]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001229064]uncertain significance221808363418083634Human2name
38478690CV951328single nucleotide variantNM_001127649.3(PEX26):c.862C>T (p.Arg288Cys)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001233996]uncertain significance221808801918088019Human1name
38496338CV959017single nucleotide variantNM_001127649.3(PEX26):c.352C>T (p.Pro118Ser)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001242494]uncertain significance221807999518079995Human1name
38499889CV959018single nucleotide variantNM_001127649.3(PEX26):c.427G>A (p.Ala143Thr)Inborn genetic diseases [RCV003166540]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001245220]uncertain significance221808349218083492Human2name
38490890CV959019single nucleotide variantNM_001127649.3(PEX26):c.548G>A (p.Gly183Asp)Optic atrophy [RCV004813973]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001239111]|not provided [RCV003130213]uncertain significance221808361318083613Human3name
38494479CV959020single nucleotide variantNM_001127649.3(PEX26):c.698C>T (p.Pro233Leu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001241337]|Retinal dystrophy [RCV004813984]uncertain significance221808514218085142Human3name
126726587CV999320single nucleotide variantNM_001127649.3(PEX26):c.605C>T (p.Ala202Val)Inborn genetic diseases [RCV002544633]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001302937]uncertain significance221808367018083670Human2name
401950394CV2834831deletionNM_001127649.3(PEX26):c.192_216del (p.Ser64fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476819]pathogenic221807856018078584Human1name
402484916CV3093720microsatelliteNM_001127649.3(PEX26):c.190_191del (p.Leu65fs)PEX26-related disorder [RCV004755018]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003786920]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV004759296]pathogenic221807856418078565Humanname , trait , alternate_id
26923086CV849023microsatelliteNM_001127649.3(PEX26):c.129CCT[1] (p.Leu45del)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001063281]uncertain significance221807850518078507Humanname
151824633CV1350971deletionNM_001127649.3(PEX26):c.789_798del (p.Cys263fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001919904]likely pathogenic|uncertain significance221808523118085240Human1name
156017141CV2035355deletionNM_001127649.3(PEX26):c.329_330del (p.Tyr110fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV002780465]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV004571246]pathogenic|likely pathogenic221807997218079973Human1name
156328060CV2184561microsatelliteNM_001127649.3(PEX26):c.725_726del (p.Ser242fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003047047]pathogenic221808516718085168Humanname
401950390CV2834827deletionNM_001127649.3(PEX26):c.361_362del (p.Leu121fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476815]likely pathogenic221808000418080005Human1name
597921843CV3867215duplicationNM_001127649.3(PEX26):c.539_540dup (p.Val181Ter)Peroxisome biogenesis disorder 7A (Zellweger) [RCV005223641]pathogenic221808360318083604Human1name
38458002CV959016indelNM_001127649.3(PEX26):c.178_179delinsA (p.Ala61fs)Peroxisome biogenesis disorder 7A (Zellweger) [RCV001246197]pathogenic221807855418078555Humanname
329847541CV2543824indelNM_001127649.3(PEX26):c.379_380delinsGA (p.Leu127Glu)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003228760]likely pathogenic221808344418083445Humanname
405058818CV3102535indelNM_001127649.3(PEX26):c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG (p.Met1_Ser6delinsSerProProGlnGlyAlaArgGly)Peroxisome biogenesis disorder 7A (Zellweger) [RCV003798677]likely pathogenic221807837418078393Humanname