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


178 records found for search term Slc25a26
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150444307CV1216612single nucleotide variantNM_173471.4(SLC25A26):c.-223C>Anot provided [RCV001610911]benign36622087266220872Humanname
150531996CV1306182single nucleotide variantNM_173471.4(SLC25A26):c.-198C>Gnot provided [RCV001757371]likely benign36622089766220897Humanname
150532366CV1307872single nucleotide variantNM_173471.4(SLC25A26):c.-150G>Tnot provided [RCV001757594]likely benign36622094566220945Humanname
14723417CV655571single nucleotide variantNM_173471.4(SLC25A26):c.-352T>Anot provided [RCV000832524]benign36622074366220743Humanname
14721993CV655572single nucleotide variantNM_173471.4(SLC25A26):c.-274C>Gnot provided [RCV000831911]benign36622082166220821Humanname
150446077CV1278259single nucleotide variantNM_001379210.1(SLC25A26):c.*3C>ACombined oxidative phosphorylation deficiency 28 [RCV001807513]|not provided [RCV001707402]benign36637781066377810Human1name
150476425CV1251858single nucleotide variantNM_001379210.1(SLC25A26):c.*51C>Tnot provided [RCV001672057]benign36637785866377858Humanname
401925258CV2805328single nucleotide variantNM_001379210.1(SLC25A26):c.-13G>Anot specified [RCV003405149]uncertain significance36622108266221082Humanname
14724612CV655573single nucleotide variantNM_001379210.1(SLC25A26):c.-48C>Tnot provided [RCV000833065]likely benign36622104766221047Humanname
14708833CV670179single nucleotide variantNM_001379210.1(SLC25A26):c.33+64=not provided [RCV000830772]benign36622119166221191Humanname
150483383CV1245102single nucleotide variantNM_001379210.1(SLC25A26):c.*219G>Anot provided [RCV001653279]benign36637802666378026Humanname
151352666CV1325244single nucleotide variantNM_001379210.1(SLC25A26):c.34-4A>GInborn genetic diseases [RCV002541494]|not provided [RCV001813886]likely benign|uncertain significance36623654066236540Human1name
11039634CV223699single nucleotide variantNM_001379210.1(SLC25A26):c.33+1G>ACombined oxidative phosphorylation deficiency 28 [RCV000207470]|not provided [RCV003225042]pathogenic|likely pathogenic36622112866221128Human1name
14708837CV671101single nucleotide variantNM_001379210.1(SLC25A26):c.33+231=not provided [RCV000830773]benign36622135866221358Humanname
150534824CV1307959single nucleotide variantNM_001379210.1(SLC25A26):c.33+48C>Tnot provided [RCV001757681]likely benign36622117566221175Humanname
156320814CV1897818single nucleotide variantNM_001379210.1(SLC25A26):c.568+6A>CSLC25A26-related disorder [RCV003918907]|not provided [RCV002579226]likely benign|uncertain significance36636293566362935Human1name , trait , alternate_id
156329701CV2216474single nucleotide variantNM_001379210.1(SLC25A26):c.634-3C>AInborn genetic diseases [RCV002717842]uncertain significance36637052666370526Human1name
401925257CV2805327single nucleotide variantNM_001379210.1(SLC25A26):c.191-1G>TCombined oxidative phosphorylation deficiency 28 [RCV003405148]likely pathogenic36624320266243202Human1name
405119119CV2891435single nucleotide variantNM_001379210.1(SLC25A26):c.708-7C>Tnot provided [RCV003558869]likely benign36637768366377683Humanname
405231756CV2988480single nucleotide variantNM_001379210.1(SLC25A26):c.454-4T>Cnot provided [RCV003711638]likely benign36634636066346360Humanname
405254088CV3045275single nucleotide variantNM_001379210.1(SLC25A26):c.707+7C>Tnot provided [RCV003722844]likely benign36637060966370609Humanname
405201623CV3066883single nucleotide variantNM_001379210.1(SLC25A26):c.708-8T>Cnot provided [RCV003730781]likely benign36637768266377682Humanname
596929991CV3538650single nucleotide variantNM_001379210.1(SLC25A26):c.190+4A>GCombined oxidative phosphorylation deficiency 28 [RCV005402185]|not provided [RCV004792119]pathogenic|uncertain significance36623670466236704Human1name
14746081CV659999single nucleotide variantNM_173471.4(SLC25A26):c.-353-217G>Cnot provided [RCV000844058]benign36622052566220525Humanname
14746082CV660000single nucleotide variantNM_173471.4(SLC25A26):c.-353-207C>Tnot provided [RCV000844059]benign36622053566220535Humanname
14723419CV660048single nucleotide variantNM_001379210.1(SLC25A26):c.33+37C>Tnot provided [RCV000832525]benign36622116466221164Humanname
14723414CV660130single nucleotide variantNM_173471.4(SLC25A26):c.-353-199G>Anot provided [RCV000832523]benign36622054366220543Humanname
14724679CV660135single nucleotide variantNM_001379210.1(SLC25A26):c.33+50T>Cnot provided [RCV000833094]benign36622117766221177Humanname
15154586CV759232single nucleotide variantNM_001379210.1(SLC25A26):c.454-7T>Cnot provided [RCV000924289]likely benign36634635766346357Humanname
15126707CV759361single nucleotide variantNM_001379210.1(SLC25A26):c.406-7G>Cnot provided [RCV000919374]likely benign36626332566263325Humanname
15158505CV759362single nucleotide variantNM_001379210.1(SLC25A26):c.707+7C>Gnot provided [RCV000925084]likely benign36637060966370609Humanname
150465188CV1277198single nucleotide variantNM_001379210.1(SLC25A26):c.634-91C>Tnot provided [RCV001710492]benign36637043866370438Humanname
150535539CV1306833single nucleotide variantNM_001379210.1(SLC25A26):c.33+192C>Tnot provided [RCV001758887]likely benign36622131966221319Humanname
150542507CV1307789single nucleotide variantNM_001379210.1(SLC25A26):c.34-271T>Gnot provided [RCV001769564]likely benign36623627366236273Humanname
150542658CV1307847single nucleotide variantNM_001379210.1(SLC25A26):c.190+10T>Cnot provided [RCV001769622]likely benign36623671066236710Humanname
150532971CV1308224single nucleotide variantNM_001379210.1(SLC25A26):c.499-81C>Gnot provided [RCV001753215]likely benign36636277966362779Humanname
150531321CV1310808single nucleotide variantNM_001379210.1(SLC25A26):c.34-220A>Gnot provided [RCV001776542]likely benign36623632466236324Humanname
152132953CV1557365single nucleotide variantNM_001379210.1(SLC25A26):c.707+11G>Tnot provided [RCV002137169]likely benign36637061366370613Humanname
152095404CV1597342single nucleotide variantNM_001379210.1(SLC25A26):c.406-20C>Tnot provided [RCV002114635]likely benign36626331266263312Humanname
156210854CV1955755single nucleotide variantNM_001379210.1(SLC25A26):c.406-19G>Anot provided [RCV002575149]|not specified [RCV004700773]likely benign|uncertain significance36626331366263313Humanname
156292836CV1958605single nucleotide variantNM_001379210.1(SLC25A26):c.405+11T>Cnot provided [RCV002577901]likely benign36626216666262166Humanname
156331055CV1969954single nucleotide variantNM_001379210.1(SLC25A26):c.634-15T>Gnot provided [RCV002600793]likely benign36637051466370514Humanname
156109174CV1988620single nucleotide variantNM_001379210.1(SLC25A26):c.405+11T>Gnot provided [RCV002622506]likely benign36626216666262166Humanname
156167333CV2019795single nucleotide variantNM_001379210.1(SLC25A26):c.634-15T>Cnot provided [RCV002710378]likely benign36637051466370514Humanname
405146968CV3126564single nucleotide variantNM_001379210.1(SLC25A26):c.569-13A>Gnot provided [RCV003817291]likely benign36636946566369465Humanname
405199570CV3128836single nucleotide variantNM_001379210.1(SLC25A26):c.454-12T>Cnot provided [RCV003821879]likely benign36634635266346352Humanname
14746084CV660002single nucleotide variantNM_001379210.1(SLC25A26):c.34-291G>Anot provided [RCV000844062]benign36623625366236253Humanname
14719480CV660006single nucleotide variantNM_001379210.1(SLC25A26):c.191-45T>Cnot provided [RCV000830796]benign36624315866243158Humanname
14746097CV660008single nucleotide variantNM_001379210.1(SLC25A26):c.300+50A>Gnot provided [RCV000844076]benign36624336266243362Humanname
14719475CV660033single nucleotide variantNM_001379210.1(SLC25A26):c.569-19T>Cnot provided [RCV000830794]benign36636945966369459Humanname
14746086CV660050single nucleotide variantNM_001379210.1(SLC25A26):c.34-136C>Gnot provided [RCV000844064]benign36623640866236408Humanname
14746109CV660057single nucleotide variantNM_001379210.1(SLC25A26):c.498+13G>ACombined oxidative phosphorylation deficiency 28 [RCV001807361]|not provided [RCV000844089]benign36634642166346421Human1name
14746083CV660137single nucleotide variantNM_001379210.1(SLC25A26):c.34-310G>Anot provided [RCV000844060]benign36623623466236234Humanname
14746085CV660139single nucleotide variantNM_001379210.1(SLC25A26):c.34-137G>Tnot provided [RCV000844063]benign36623640766236407Humanname
14723421CV660322single nucleotide variantNM_001379210.1(SLC25A26):c.34-160G>Anot provided [RCV000832526]benign36623638466236384Humanname
14746096CV660330single nucleotide variantNM_001379210.1(SLC25A26):c.300+30T>Cnot provided [RCV000844075]benign36624334266243342Humanname
8578737CV113125single nucleotide variantNM_001164796.1(SLC25A26):c.141+536G>CLung cancer [RCV000093648]uncertain significance36626269166262691Humanname
150331670CV1163435single nucleotide variantNM_001379210.1(SLC25A26):c.406-156C>Anot provided [RCV001527898]benign36626317666263176Humanname
150331217CV1171166single nucleotide variantNM_001379210.1(SLC25A26):c.633+289A>Tnot provided [RCV001538539]benign36636983166369831Humanname
150433992CV1230677single nucleotide variantNM_001379210.1(SLC25A26):c.569-292T>Cnot provided [RCV001643623]benign36636918666369186Humanname
150460554CV1236267duplicationNM_001379210.1(SLC25A26):c.568+168dupnot provided [RCV001649238]benign36636308266363083Humanname
150460904CV1270582single nucleotide variantNM_001379210.1(SLC25A26):c.301-307T>Cnot provided [RCV001693572]benign36626174466261744Humanname
150465891CV1277313deletionNM_001379210.1(SLC25A26):c.568+168delnot provided [RCV001710608]benign36636308366363083Humanname
150542484CV1307782single nucleotide variantNM_001379210.1(SLC25A26):c.569-288T>Anot provided [RCV001769557]likely benign36636919066369190Humanname
150534866CV1307974duplicationNM_001379210.1(SLC25A26):c.568+153dupnot provided [RCV001757696]likely benign36636307866363079Humanname
150539295CV1308618deletionNM_001379210.1(SLC25A26):c.301-129delnot provided [RCV001766122]likely benign36626191066261910Humanname
408378304CV3500931single nucleotide variantNM_001379210.1(SLC25A26):c.707+687G>Anot provided [RCV004722581]likely benign36637128966371289Humanname
14725525CV660014single nucleotide variantNM_001379210.1(SLC25A26):c.405+260G>Anot provided [RCV000833477]likely benign36626241566262415Humanname
14723756CV660021single nucleotide variantNM_001379210.1(SLC25A26):c.453+310C>Tnot provided [RCV000832679]benign36626368966263689Humanname
14718071CV660027single nucleotide variantNM_001379210.1(SLC25A26):c.569-142A>Tnot provided [RCV000830276]likely benign36636933666369336Humanname
14746089CV660052single nucleotide variantNM_001379210.1(SLC25A26):c.190+210A>Cnot provided [RCV000844067]benign36623691066236910Humanname
14746091CV660054single nucleotide variantNM_001379210.1(SLC25A26):c.190+239A>Cnot provided [RCV000844069]benign36623693966236939Humanname
14746124CV660064single nucleotide variantNM_001379210.1(SLC25A26):c.499-154T>Anot provided [RCV000844105]benign36636270666362706Humanname
14724615CV660065single nucleotide variantNM_001379210.1(SLC25A26):c.569-119C>Gnot provided [RCV000833066]likely benign36636935966369359Humanname
14725531CV660076single nucleotide variantNM_001379210.1(SLC25A26):c.634-306C>Tnot provided [RCV000833479]benign36637022366370223Humanname
14746141CV660083single nucleotide variantNM_001379210.1(SLC25A26):c.707+121T>Cnot provided [RCV000844124]benign36637072366370723Humanname
14746094CV660142single nucleotide variantNM_001379210.1(SLC25A26):c.191-147G>Anot provided [RCV000844073]benign36624305666243056Humanname
14746101CV660144single nucleotide variantNM_001379210.1(SLC25A26):c.301-157C>Anot provided [RCV000844080]benign36626189466261894Humanname
14746106CV660146single nucleotide variantNM_001379210.1(SLC25A26):c.454-308G>Tnot provided [RCV000844086]benign36634605666346056Humanname
14746146CV660149single nucleotide variantNM_001379210.1(SLC25A26):c.708-229A>Gnot provided [RCV000844130]benign36637746166377461Humanname
14746092CV660325single nucleotide variantNM_001379210.1(SLC25A26):c.190+293T>Cnot provided [RCV000844071]benign36623699366236993Humanname
14746100CV660331single nucleotide variantNM_001379210.1(SLC25A26):c.300+115T>Cnot provided [RCV000844079]benign36624342766243427Humanname
14723424CV660335single nucleotide variantNM_001379210.1(SLC25A26):c.499-233A>Gnot provided [RCV000832527]benign36636262766362627Humanname
14746112CV660338single nucleotide variantNM_001379210.1(SLC25A26):c.499-173G>Tnot provided [RCV000844093]benign36636268766362687Humanname
14725528CV660339single nucleotide variantNM_001379210.1(SLC25A26):c.569-180C>Gnot provided [RCV000833478]benign36636929866369298Humanname
150332137CV1163436microsatelliteNM_001379210.1(SLC25A26):c.498+308GT[24]not provided [RCV001528094]benign36634671566346716Humanname
150479768CV1273524microsatelliteNM_001379210.1(SLC25A26):c.498+308GT[22]not provided [RCV001696728]benign36634671666346717Humanname
150532824CV1308148microsatelliteNM_001379210.1(SLC25A26):c.498+308GT[25]not provided [RCV001753138]likely benign36634671566346716Humanname
14713191CV660055microsatelliteNM_001379210.1(SLC25A26):c.453+283TTTG[3]not provided [RCV000828646]benign36626366166263662Humanname
598200090CV3892620microsatelliteNM_001379210.1(SLC25A26):c.569-10_569-8delnot provided [RCV005254453]uncertain significance36636946466369466Humanname
150552539CV1306330single nucleotide variantNM_001379210.1(SLC25A26):c.45A>G (p.Val15=)SLC25A26-related disorder [RCV003968542]|not provided [RCV001767952]likely benign36623655566236555Human1name , trait , alternate_id
150532377CV1307900single nucleotide variantNM_001379210.1(SLC25A26):c.33G>A (p.Val11=)not provided [RCV001757622]likely benign36622112766221127Humanname
156338285CV2370609single nucleotide variantNM_001379210.1(SLC25A26):c.4G>T (p.Asp2Tyr)Inborn genetic diseases [RCV002674133]|not provided [RCV005254730]uncertain significance36622109866221098Human1name
405259127CV3215271single nucleotide variantNM_001379210.1(SLC25A26):c.42G>A (p.Gly14=)SLC25A26-related disorder [RCV003942307]likely benign36623655266236552Humanname , trait , alternate_id
14721871CV660333duplicationNM_001379210.1(SLC25A26):c.498+68_498+76dupnot provided [RCV000831858]benign36634647466346475Humanname
150469708CV1247866deletionNM_001379210.1(SLC25A26):c.569-106_569-99delnot provided [RCV001670902]benign36636937066369377Humanname
156300593CV2104917single nucleotide variantNM_001379210.1(SLC25A26):c.285C>G (p.Ala95=)not provided [RCV002922554]likely benign36624329766243297Humanname
405279116CV3219251single nucleotide variantNM_001379210.1(SLC25A26):c.156C>T (p.Gly52=)SLC25A26-related disorder [RCV003954818]likely benign36623666666236666Humanname , trait , alternate_id
598128492CV3887696single nucleotide variantNM_001379210.1(SLC25A26):c.294A>G (p.Gly98=)not provided [RCV005243870]uncertain significance36624330666243306Humanname
14721868CV655575single nucleotide variantNM_001379210.1(SLC25A26):c.252A>G (p.Ser84=)SLC25A26-related disorder [RCV003975344]|not provided [RCV000831857]benign36624326466243264Human1name , trait , alternate_id
156334600CV1954345single nucleotide variantNM_001379210.1(SLC25A26):c.666C>T (p.Leu222=)not provided [RCV002580181]likely benign36637056166370561Humanname
156226742CV2088799single nucleotide variantNM_001379210.1(SLC25A26):c.501C>T (p.Ala167=)not provided [RCV002876081]likely benign36636286266362862Humanname
155933398CV2113933single nucleotide variantNM_001379210.1(SLC25A26):c.603C>T (p.Asp201=)not provided [RCV002903962]likely benign36636951266369512Humanname
329400640CV2438599single nucleotide variantNM_001379210.1(SLC25A26):c.88A>G (p.Ile30Val)Inborn genetic diseases [RCV003197640]uncertain significance36623659866236598Human1name
405022423CV2877520single nucleotide variantNM_001379210.1(SLC25A26):c.801G>A (p.Leu267=)not provided [RCV003577717]likely benign36637778366377783Humanname
405768004CV3325497single nucleotide variantNM_001379210.1(SLC25A26):c.69A>G (p.Ile23Met)Inborn genetic diseases [RCV004456479]uncertain significance36623657966236579Human1name
597895931CV3740369single nucleotide variantNM_001379210.1(SLC25A26):c.633G>A (p.Lys211=)not provided [RCV005071722]uncertain significance36636954266369542Humanname
597895625CV3773468single nucleotide variantNM_001379210.1(SLC25A26):c.417G>A (p.Gly139=)not provided [RCV005111375]likely benign36626334366263343Humanname
597974294CV3801798single nucleotide variantNM_001379210.1(SLC25A26):c.543G>A (p.Gln181=)not provided [RCV005143787]likely benign36636290466362904Humanname
597875012CV3846425single nucleotide variantNM_001379210.1(SLC25A26):c.777T>C (p.Tyr259=)not provided [RCV005177308]likely benign36637775966377759Humanname
14746131CV655576single nucleotide variantNM_001379210.1(SLC25A26):c.609A>G (p.Ala203=)not provided [RCV000844114]benign36636951866369518Humanname
15121005CV734276single nucleotide variantNM_001379210.1(SLC25A26):c.594C>T (p.Thr198=)not provided [RCV000895987]likely benign36636950366369503Humanname
15181963CV734277single nucleotide variantNM_001379210.1(SLC25A26):c.624G>A (p.Thr208=)not provided [RCV000907708]likely benign36636953366369533Humanname
15132375CV734278single nucleotide variantNM_001379210.1(SLC25A26):c.636T>C (p.Ala212=)not provided [RCV000897945]likely benign36637053166370531Humanname
15194054CV764144single nucleotide variantNM_001379210.1(SLC25A26):c.417G>T (p.Gly139=)not provided [RCV000933532]likely benign36626334366263343Humanname
155717448CV1780605single nucleotide variantNM_001379210.1(SLC25A26):c.287C>G (p.Ser96Cys)not provided [RCV002306210]uncertain significance36624329966243299Humanname
156023962CV2079356deletionNM_001379210.1(SLC25A26):c.720del (p.Val241fs)not provided [RCV002885088]uncertain significance36637770266377702Humanname
156127149CV2223763single nucleotide variantNM_001379210.1(SLC25A26):c.155G>A (p.Gly52Asp)Inborn genetic diseases [RCV002708223]uncertain significance36623666566236665Human1name
156066298CV2225512single nucleotide variantNM_001379210.1(SLC25A26):c.196G>A (p.Ala66Thr)Inborn genetic diseases [RCV002737106]uncertain significance36624320866243208Human1name
329376530CV2438276single nucleotide variantNM_001379210.1(SLC25A26):c.265A>G (p.Met89Val)Inborn genetic diseases [RCV003186112]likely benign36624327766243277Human1name
329366398CV2445704single nucleotide variantNM_001379210.1(SLC25A26):c.148T>C (p.Tyr50His)Inborn genetic diseases [RCV003207729]uncertain significance36623665866236658Human1name
401737757CV2699909single nucleotide variantNM_001379210.1(SLC25A26):c.172A>G (p.Ile58Val)Inborn genetic diseases [RCV003291651]likely benign36623668266236682Human1name
401887541CV2772001single nucleotide variantNM_001379210.1(SLC25A26):c.157G>A (p.Val53Ile)Inborn genetic diseases [RCV003352443]uncertain significance36623666766236667Human1name
405767972CV3325492single nucleotide variantNM_001379210.1(SLC25A26):c.108T>A (p.Ser36Arg)Inborn genetic diseases [RCV004456474]uncertain significance36623661866236618Human1name
597650260CV3551876single nucleotide variantNM_001379210.1(SLC25A26):c.136T>G (p.Phe46Val)not provided [RCV004820589]uncertain significance36623664666236646Humanname
597639586CV3606307single nucleotide variantNM_001379210.1(SLC25A26):c.101T>A (p.Leu34Gln)Inborn genetic diseases [RCV004971255]uncertain significance36623661166236611Human1name
598168694CV3918193single nucleotide variantNM_001379210.1(SLC25A26):c.220G>T (p.Val74Leu)Inborn genetic diseases [RCV005284140]uncertain significance36624323266243232Human1name
598168716CV3918198single nucleotide variantNM_001379210.1(SLC25A26):c.245C>T (p.Ser82Leu)Inborn genetic diseases [RCV005284145]uncertain significance36624325766243257Human1name
14746088CV655574single nucleotide variantNM_001379210.1(SLC25A26):c.122G>A (p.Ser41Asn)Combined oxidative phosphorylation deficiency 28 [RCV001807360]|SLC25A26-related disorder [RCV003975361]|not provided [RCV000844066]benign36623663266236632Human1name , trait , alternate_id
151743520CV1391112single nucleotide variantNM_001379210.1(SLC25A26):c.818G>C (p.Ser273Thr)not provided [RCV001985478]uncertain significance36637780066377800Humanname
151794436CV1392941single nucleotide variantNM_001379210.1(SLC25A26):c.298G>A (p.Val100Met)Inborn genetic diseases [RCV004041924]|not provided [RCV001952351]uncertain significance36624331066243310Human1name
151843142CV1438474single nucleotide variantNM_001379210.1(SLC25A26):c.370A>G (p.Thr124Ala)not provided [RCV001921778]uncertain significance36626212066262120Humanname
151824668CV1452987single nucleotide variantNM_001379210.1(SLC25A26):c.362C>T (p.Ser121Phe)Inborn genetic diseases [RCV004953132]|not provided [RCV002030228]uncertain significance36626211266262112Human1name
152039991CV1669660single nucleotide variantNM_001379210.1(SLC25A26):c.386C>A (p.Ser129Tyr)not provided [RCV002224561]uncertain significance36626213666262136Humanname
153348879CV1692924single nucleotide variantNM_001379210.1(SLC25A26):c.547G>T (p.Ala183Ser)not provided [RCV002274780]uncertain significance36636290866362908Humanname
153348906CV1692952single nucleotide variantNM_001379210.1(SLC25A26):c.431A>G (p.Tyr144Cys)Inborn genetic diseases [RCV003096184]|not provided [RCV002274808]uncertain significance36626335766263357Human1name
155265926CV1695906single nucleotide variantNM_001379210.1(SLC25A26):c.719G>T (p.Gly240Val)Combined oxidative phosphorylation deficiency 28 [RCV002280600]uncertain significance36637770166377701Human1name
155265929CV1695910single nucleotide variantNM_001379210.1(SLC25A26):c.554G>A (p.Cys185Tyr)Combined oxidative phosphorylation deficiency 28 [RCV002280604]uncertain significance36636291566362915Human1name
155265976CV1704852single nucleotide variantNM_001379210.1(SLC25A26):c.581C>A (p.Ala194Asp)Hypokalemic periodic paralysis, type 1 [RCV002285097]uncertain significance36636949066369490Human1name
156234398CV2076098single nucleotide variantNM_001379210.1(SLC25A26):c.377A>C (p.Gln126Pro)not provided [RCV002830172]uncertain significance36626212766262127Humanname
156216347CV2110987single nucleotide variantNM_001379210.1(SLC25A26):c.367A>G (p.Arg123Gly)Inborn genetic diseases [RCV002932276]|not provided [RCV002932275]uncertain significance36626211766262117Human1name
155937369CV2125806single nucleotide variantNM_001379210.1(SLC25A26):c.721G>A (p.Val241Ile)not provided [RCV002971046]benign|likely benign36637770366377703Humanname
156123931CV2227298single nucleotide variantNM_001379210.1(SLC25A26):c.425G>A (p.Arg142Gln)Combined oxidative phosphorylation deficiency 28 [RCV005402009]|Inborn genetic diseases [RCV002708024]pathogenic|uncertain significance36626335166263351Human2name
11039873CV223696single nucleotide variantNM_001379210.1(SLC25A26):c.443T>G (p.Val148Gly)Combined oxidative phosphorylation deficiency 28 [RCV000207467]pathogenic36626336966263369Human1name
11039865CV223697single nucleotide variantNM_001379210.1(SLC25A26):c.305C>T (p.Ala102Val)Combined oxidative phosphorylation deficiency 28 [RCV000207457]pathogenic36626205566262055Human1name
11039870CV223698single nucleotide variantNM_001379210.1(SLC25A26):c.596C>T (p.Pro199Leu)Combined oxidative phosphorylation deficiency 28 [RCV000207463]pathogenic36636950566369505Human1name
156086691CV2241264single nucleotide variantNM_001379210.1(SLC25A26):c.386C>G (p.Ser129Cys)Inborn genetic diseases [RCV002738230]uncertain significance36626213666262136Human1name
156274878CV2255597single nucleotide variantNM_001379210.1(SLC25A26):c.746G>T (p.Ser249Ile)Inborn genetic diseases [RCV002792712]uncertain significance36637772866377728Human1name
156235359CV2271381single nucleotide variantNM_001379210.1(SLC25A26):c.424C>T (p.Arg142Ter)Inborn genetic diseases [RCV002853906]pathogenic36626335066263350Human1name
329394878CV2457698single nucleotide variantNM_001379210.1(SLC25A26):c.727C>A (p.Pro243Thr)Inborn genetic diseases [RCV003193968]uncertain significance36637770966377709Human1name
401755776CV2679101single nucleotide variantNM_001379210.1(SLC25A26):c.689G>A (p.Arg230Gln)Inborn genetic diseases [RCV003255385]likely benign36637058466370584Human1name
401722800CV2703505single nucleotide variantNM_001379210.1(SLC25A26):c.814A>G (p.Lys272Glu)Inborn genetic diseases [RCV003268133]likely benign36637779666377796Human1name
401775901CV2706800single nucleotide variantNM_001379210.1(SLC25A26):c.485G>C (p.Trp162Ser)Inborn genetic diseases [RCV003263050]uncertain significance36634639566346395Human1name
405703741CV3225025single nucleotide variantNM_001379210.1(SLC25A26):c.727C>T (p.Pro243Ser)Combined oxidative phosphorylation deficiency 28 [RCV003989981]uncertain significance36637770966377709Human1name
405767979CV3325493single nucleotide variantNM_001379210.1(SLC25A26):c.313A>C (p.Ile105Leu)Inborn genetic diseases [RCV004456475]uncertain significance36626206366262063Human1name
405767984CV3325494single nucleotide variantNM_001379210.1(SLC25A26):c.401A>T (p.Glu134Val)Inborn genetic diseases [RCV004456476]uncertain significance36626215166262151Human1name
405767992CV3325495single nucleotide variantNM_001379210.1(SLC25A26):c.650C>A (p.Ala217Asp)Inborn genetic diseases [RCV004456477]uncertain significance36637054566370545Human1name
405767998CV3325496single nucleotide variantNM_001379210.1(SLC25A26):c.694C>A (p.Gln232Lys)Inborn genetic diseases [RCV004456478]uncertain significance36637058966370589Human1name
407426881CV3411681single nucleotide variantNM_001379210.1(SLC25A26):c.781C>T (p.Arg261Ter)not provided [RCV004590859]uncertain significance36637776366377763Humanname
407509294CV3473983single nucleotide variantNM_001379210.1(SLC25A26):c.604G>A (p.Val202Met)Inborn genetic diseases [RCV004672318]uncertain significance36636951366369513Human1name
407509297CV3473984single nucleotide variantNM_001379210.1(SLC25A26):c.487G>A (p.Glu163Lys)Inborn genetic diseases [RCV004672319]uncertain significance36634639766346397Human1name
597709846CV3606306single nucleotide variantNM_001379210.1(SLC25A26):c.317G>A (p.Arg106Gln)Inborn genetic diseases [RCV004957913]uncertain significance36626206766262067Human1name
597709853CV3606308single nucleotide variantNM_001379210.1(SLC25A26):c.785C>T (p.Thr262Met)Inborn genetic diseases [RCV004957914]uncertain significance36637776766377767Human1name
597910801CV3770428single nucleotide variantNM_001379210.1(SLC25A26):c.643A>T (p.Ser215Cys)not provided [RCV005113729]uncertain significance36637053866370538Humanname
597860584CV3826036single nucleotide variantNM_001379210.1(SLC25A26):c.378G>T (p.Gln126His)not provided [RCV005174934]uncertain significance36626212866262128Humanname
598168698CV3918194single nucleotide variantNM_001379210.1(SLC25A26):c.315T>G (p.Ile105Met)Inborn genetic diseases [RCV005284141]uncertain significance36626206566262065Human1name
598168702CV3918195single nucleotide variantNM_001379210.1(SLC25A26):c.468G>C (p.Leu156Phe)Inborn genetic diseases [RCV005284142]uncertain significance36634637866346378Human1name
598168705CV3918196single nucleotide variantNM_001379210.1(SLC25A26):c.350A>G (p.Gln117Arg)Inborn genetic diseases [RCV005284143]uncertain significance36626210066262100Human1name
598168721CV3918199single nucleotide variantNM_001379210.1(SLC25A26):c.509C>A (p.Ser170Tyr)Inborn genetic diseases [RCV005284146]uncertain significance36636287066362870Human1name
616934918CV4009100single nucleotide variantNM_001379210.1(SLC25A26):c.404A>G (p.Glu135Gly)Combined oxidative phosphorylation deficiency 28 [RCV005402283]pathogenic36626215466262154Human1name
13533191CV511507single nucleotide variantNM_001379210.1(SLC25A26):c.301G>A (p.Val101Ile)Inborn genetic diseases [RCV000622310]uncertain significance36626205166262051Human1name
14746136CV655577single nucleotide variantNM_001379210.1(SLC25A26):c.623C>T (p.Thr208Met)Combined oxidative phosphorylation deficiency 28 [RCV001807362]|not provided [RCV000844119]benign36636953266369532Human3name
14746136CV655577single nucleotide variantNM_001379210.1(SLC25A26):c.623C>T (p.Thr208Met)Combined oxidative phosphorylation deficiency 28 [RCV001807362]|not provided [RCV000844119]benign36636953266369533Human3name
15131709CV734275single nucleotide variantNM_001379210.1(SLC25A26):c.445T>G (p.Leu149Val)not provided [RCV000897823]benign36626337166263371Humanname
15193927CV764145single nucleotide variantNM_001379210.1(SLC25A26):c.677A>G (p.His226Arg)not provided [RCV000933496]likely benign36637057266370572Humanname
596923954CV3532067microsatelliteNM_001379210.1(SLC25A26):c.166GCT[1] (p.Ala57del)not provided [RCV004777178]uncertain significance36623667466236676Humanname
12848995CV363944deletionNM_001379210.1(SLC25A26):c.803_809del (p.Glu268fs)Inborn genetic diseases [RCV002524719]|not provided [RCV000422261]uncertain significance36637778066377786Human1name
596929994CV3538651deletionNM_001379210.1(SLC25A26):c.508_513del (p.Ser170_Trp171del)not provided [RCV004792120]uncertain significance36636286566362870Humanname