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143 records found for search term Atp13a4
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15109278CV774825single nucleotide variantNM_032279.4(ATP13A4):c.739-9C>GATP13A4-related disorder [RCV003903122]|not provided [RCV000938314]likely benign3193484014193484014Humanname , trait , alternate_id
405284467CV3196837single nucleotide variantNM_032279.4(ATP13A4):c.1915+7A>GATP13A4-related disorder [RCV003979708]benign3193456993193456993Humanname , trait , alternate_id
405291702CV3205979single nucleotide variantNM_032279.4(ATP13A4):c.27C>T (p.His9=)ATP13A4-related disorder [RCV003964076]likely benign3193554773193554773Humanname , trait , alternate_id
155964213CV2194265single nucleotide variantNM_032279.4(ATP13A4):c.12T>A (p.Phe4Leu)not specified [RCV004079383]uncertain significance3193554788193554788Humanname
156342396CV2343887single nucleotide variantNM_032279.4(ATP13A4):c.28G>A (p.Ala10Thr)not specified [RCV004193465]uncertain significance3193554772193554772Humanname
401723563CV2724947single nucleotide variantNM_032279.4(ATP13A4):c.71G>A (p.Gly24Asp)not specified [RCV004319711]uncertain significance3193514861193514861Humanname
401861096CV2758748single nucleotide variantNM_032279.4(ATP13A4):c.86G>T (p.Gly29Val)not specified [RCV004337807]uncertain significance3193514846193514846Humanname
405291569CV3205801single nucleotide variantNM_032279.4(ATP13A4):c.687C>T (p.Ile229=)ATP13A4-related disorder [RCV003963931]likely benign3193489781193489781Humanname , trait , alternate_id
405294387CV3214888single nucleotide variantNM_032279.4(ATP13A4):c.840G>A (p.Leu280=)ATP13A4-related disorder [RCV003934289]likely benign3193470962193470962Humanname , trait , alternate_id
407521121CV3486861single nucleotide variantNM_032279.4(ATP13A4):c.91C>T (p.Arg31Trp)not specified [RCV004677184]uncertain significance3193514841193514841Humanname
155985797CV2282418single nucleotide variantNM_032279.4(ATP13A4):c.266T>C (p.Val89Ala)not specified [RCV004133230]uncertain significance3193502608193502608Humanname
156330515CV2339491single nucleotide variantNM_032279.4(ATP13A4):c.235G>A (p.Asp79Asn)not specified [RCV004194158]uncertain significance3193502639193502639Humanname
156342879CV2344173single nucleotide variantNM_032279.4(ATP13A4):c.112G>A (p.Gly38Arg)not specified [RCV004195769]uncertain significance3193514820193514820Humanname
156002389CV2399542single nucleotide variantNM_032279.4(ATP13A4):c.172G>A (p.Val58Ile)not specified [RCV004242796]uncertain significance3193514760193514760Humanname
329371198CV2461974single nucleotide variantNM_032279.4(ATP13A4):c.233C>A (p.Thr78Lys)not specified [RCV004271868]uncertain significance3193514699193514699Humanname
401923042CV2825142single nucleotide variantNM_032279.4(ATP13A4):c.2319C>T (p.Asp773=)not provided [RCV003434836]likely benign3193441586193441586Humanname
405292608CV3192936single nucleotide variantNM_032279.4(ATP13A4):c.2247C>T (p.Thr749=)ATP13A4-related disorder [RCV003964642]likely benign3193442462193442462Humanname , trait , alternate_id
405285252CV3202587single nucleotide variantNM_032279.4(ATP13A4):c.1323G>A (p.Ala441=)ATP13A4-related disorder [RCV003909842]likely benign3193465078193465078Humanname , trait , alternate_id
405287434CV3205690single nucleotide variantNM_032279.4(ATP13A4):c.2895G>T (p.Arg965=)ATP13A4-related disorder [RCV003959811]likely benign3193414698193414698Humanname , trait , alternate_id
405272875CV3210182single nucleotide variantNM_032279.4(ATP13A4):c.1974A>T (p.Ile658=)ATP13A4-related disorder [RCV003914422]likely benign3193454154193454154Humanname , trait , alternate_id
405294329CV3214851single nucleotide variantNM_032279.4(ATP13A4):c.2083T>C (p.Leu695=)ATP13A4-related disorder [RCV003934261]likely benign3193448275193448275Humanname , trait , alternate_id
407521146CV3486872single nucleotide variantNM_032279.4(ATP13A4):c.262A>C (p.Lys88Gln)not specified [RCV004677193]uncertain significance3193502612193502612Humanname
15187858CV697993single nucleotide variantNM_032279.4(ATP13A4):c.2481G>A (p.Gly827=)not provided [RCV000953712]benign3193440596193440596Humanname
15144841CV708738single nucleotide variantNM_032279.4(ATP13A4):c.2947C>T (p.Leu983=)ATP13A4-related disorder [RCV003905917]|not provided [RCV000966897]benign3193414646193414646Humanname , trait , alternate_id
15144848CV708740single nucleotide variantNM_032279.4(ATP13A4):c.1089C>T (p.Thr363=)ATP13A4-related disorder [RCV003905918]|not provided [RCV000966898]benign|likely benign3193467341193467341Humanname , trait , alternate_id
15166826CV708741single nucleotide variantNM_032279.4(ATP13A4):c.182A>G (p.His61Arg)ATP13A4-related disorder [RCV003936115]|not provided [RCV000971268]likely benign3193514750193514750Humanname , trait , alternate_id
15124790CV748152single nucleotide variantNM_032279.4(ATP13A4):c.1695C>T (p.Asp565=)not provided [RCV000919041]likely benign3193457445193457445Humanname
150435418CV1221636single nucleotide variantNM_032279.4(ATP13A4):c.543A>G (p.Ile181Met)not provided [RCV001609324]benign3193491389193491389Humanname
156115575CV2221503single nucleotide variantNM_032279.4(ATP13A4):c.581T>C (p.Ile194Thr)not specified [RCV004096777]uncertain significance3193491351193491351Humanname
156030920CV2278764single nucleotide variantNM_032279.4(ATP13A4):c.398T>G (p.Val133Gly)not specified [RCV004134949]uncertain significance3193493144193493144Humanname
156017486CV2302538single nucleotide variantNM_032279.4(ATP13A4):c.932G>A (p.Gly311Asp)not specified [RCV004160717]uncertain significance3193470870193470870Humanname
156059538CV2323015single nucleotide variantNM_032279.4(ATP13A4):c.298G>T (p.Ala100Ser)not specified [RCV004185443]uncertain significance3193502576193502576Humanname
156118763CV2353977single nucleotide variantNM_032279.4(ATP13A4):c.622A>G (p.Ile208Val)not specified [RCV004204413]uncertain significance3193489846193489846Humanname
156145818CV2357890single nucleotide variantNM_032279.4(ATP13A4):c.784A>G (p.Thr262Ala)not specified [RCV004209680]uncertain significance3193483960193483960Humanname
401727116CV2684476single nucleotide variantNM_032279.4(ATP13A4):c.407T>C (p.Ile136Thr)not specified [RCV004291549]uncertain significance3193493135193493135Humanname
401867382CV2773477single nucleotide variantNM_032279.4(ATP13A4):c.574A>C (p.Thr192Pro)not specified [RCV004354110]uncertain significance3193491358193491358Humanname
401866105CV2786152single nucleotide variantNM_032279.4(ATP13A4):c.665A>G (p.Tyr222Cys)not specified [RCV004359958]uncertain significance3193489803193489803Humanname
404988814CV2849675single nucleotide variantNM_032279.4(ATP13A4):c.490C>T (p.Gln164Ter)not provided [RCV003490494]uncertain significance3193492960193492960Humanname
405703926CV3301213single nucleotide variantNM_032279.4(ATP13A4):c.860T>C (p.Ile287Thr)not specified [RCV004425811]uncertain significance3193470942193470942Humanname
405703935CV3301214single nucleotide variantNM_032279.4(ATP13A4):c.968C>T (p.Thr323Ile)not specified [RCV004425812]uncertain significance3193467462193467462Humanname
407521099CV3486853single nucleotide variantNM_032279.4(ATP13A4):c.785C>T (p.Thr262Met)not specified [RCV004677176]uncertain significance3193483959193483959Humanname
407521124CV3486862single nucleotide variantNM_032279.4(ATP13A4):c.894T>G (p.Asp298Glu)not specified [RCV004677185]uncertain significance3193470908193470908Humanname
407521130CV3486865single nucleotide variantNM_032279.4(ATP13A4):c.438G>T (p.Gln146His)not specified [RCV004677187]uncertain significance3193493104193493104Humanname
597750964CV3619728single nucleotide variantNM_032279.4(ATP13A4):c.832C>T (p.Arg278Cys)not specified [RCV004866821]uncertain significance3193470970193470970Humanname
597751013CV3619740single nucleotide variantNM_032279.4(ATP13A4):c.898G>A (p.Val300Ile)not specified [RCV004866832]likely benign3193470904193470904Humanname
597751107CV3619762single nucleotide variantNM_032279.4(ATP13A4):c.709A>T (p.Ile237Leu)not specified [RCV004866853]uncertain significance3193489759193489759Humanname
597751157CV3619773single nucleotide variantNM_032279.4(ATP13A4):c.311C>T (p.Thr104Ile)not specified [RCV004866864]uncertain significance3193502563193502563Humanname
597751460CV3619850single nucleotide variantNM_032279.4(ATP13A4):c.469C>A (p.Leu157Ile)not specified [RCV004866932]uncertain significance3193492981193492981Humanname
598163556CV3913228single nucleotide variantNM_032279.4(ATP13A4):c.451G>A (p.Gly151Ser)not specified [RCV005283142]uncertain significance3193493091193493091Humanname
598209440CV3913244single nucleotide variantNM_032279.4(ATP13A4):c.944G>A (p.Gly315Glu)not specified [RCV005291699]uncertain significance3193467486193467486Humanname
598209547CV3913268single nucleotide variantNM_032279.4(ATP13A4):c.787G>T (p.Val263Phe)not specified [RCV005291718]uncertain significance3193483957193483957Humanname
15158228CV708736single nucleotide variantNM_032279.4(ATP13A4):c.3573C>T (p.Ser1191=)not provided [RCV000969466]benign3193402670193402670Humanname
15158233CV708737single nucleotide variantNM_032279.4(ATP13A4):c.3405G>A (p.Leu1135=)not provided [RCV000969467]benign3193402838193402838Humanname
155966909CV2216768single nucleotide variantNM_032279.4(ATP13A4):c.2698T>G (p.Ser900Ala)not specified [RCV004083211]uncertain significance3193435719193435719Humanname
155930146CV2224672single nucleotide variantNM_032279.4(ATP13A4):c.1508C>G (p.Ser503Cys)not specified [RCV004092515]uncertain significance3193462777193462777Humanname
155932842CV2228750single nucleotide variantNM_032279.4(ATP13A4):c.1276C>A (p.Pro426Thr)not specified [RCV004093222]uncertain significance3193465125193465125Humanname
156071438CV2229184single nucleotide variantNM_032279.4(ATP13A4):c.1943A>C (p.Gln648Pro)not specified [RCV004101007]uncertain significance3193454185193454185Humanname
155946363CV2238109single nucleotide variantNM_032279.4(ATP13A4):c.1495T>C (p.Trp499Arg)not specified [RCV004111124]uncertain significance3193462790193462790Humanname
156219324CV2254040single nucleotide variantNM_032279.4(ATP13A4):c.2890G>A (p.Gly964Arg)not specified [RCV004129491]uncertain significance3193414703193414703Humanname
155970405CV2262230single nucleotide variantNM_032279.4(ATP13A4):c.1775G>A (p.Gly592Glu)not specified [RCV004128445]uncertain significance3193457140193457140Humanname
156024841CV2273914single nucleotide variantNM_032279.4(ATP13A4):c.1040T>C (p.Leu347Pro)not specified [RCV004134322]uncertain significance3193467390193467390Humanname
156045671CV2308102single nucleotide variantNM_032279.4(ATP13A4):c.2092G>A (p.Glu698Lys)not specified [RCV004170521]uncertain significance3193448266193448266Humanname
156052168CV2320282single nucleotide variantNM_032279.4(ATP13A4):c.2945G>A (p.Ser982Asn)not specified [RCV004178450]uncertain significance3193414648193414648Humanname
156079065CV2341231single nucleotide variantNM_032279.4(ATP13A4):c.2543A>G (p.Asp848Gly)not specified [RCV004186645]uncertain significance3193439042193439042Humanname
156006616CV2357793single nucleotide variantNM_032279.4(ATP13A4):c.2656G>A (p.Val886Ile)not specified [RCV004205082]uncertain significance3193438491193438491Humanname
156001528CV2391926single nucleotide variantNM_032279.4(ATP13A4):c.1958A>G (p.Gln653Arg)not specified [RCV004235792]uncertain significance3193454170193454170Humanname
156228708CV2393053single nucleotide variantNM_032279.4(ATP13A4):c.2096C>G (p.Thr699Arg)not specified [RCV004242903]uncertain significance3193448262193448262Humanname
156320257CV2400350single nucleotide variantNM_032279.4(ATP13A4):c.2845A>C (p.Asn949His)not specified [RCV004244405]uncertain significance3193414748193414748Humanname
329393516CV2467055single nucleotide variantNM_032279.4(ATP13A4):c.1868T>C (p.Met623Thr)not specified [RCV004282795]uncertain significance3193457047193457047Humanname
401734587CV2709547single nucleotide variantNM_032279.4(ATP13A4):c.2725C>G (p.Leu909Val)not specified [RCV004318781]uncertain significance3193435692193435692Humanname
401769970CV2710770single nucleotide variantNM_032279.4(ATP13A4):c.1590G>A (p.Met530Ile)not specified [RCV004308704]uncertain significance3193459165193459165Humanname
401891936CV2777150single nucleotide variantNM_032279.4(ATP13A4):c.1731G>C (p.Met577Ile)not specified [RCV004354197]uncertain significance3193457409193457409Humanname
401898652CV2782582single nucleotide variantNM_032279.4(ATP13A4):c.2344G>A (p.Val782Ile)not specified [RCV004359615]uncertain significance3193441561193441561Humanname
405292263CV3199835single nucleotide variantNM_032279.4(ATP13A4):c.2119A>G (p.Ile707Val)ATP13A4-related disorder [RCV003964426]benign3193448239193448239Humanname , trait , alternate_id
405270928CV3212150single nucleotide variantNM_032279.4(ATP13A4):c.2111A>C (p.Glu704Ala)ATP13A4-related disorder [RCV003949516]likely benign3193448247193448247Humanname , trait , alternate_id
405266000CV3221030single nucleotide variantNM_032279.4(ATP13A4):c.1030C>T (p.Arg344Trp)ATP13A4-related disorder [RCV003969164]likely benign3193467400193467400Humanname , trait , alternate_id
405703728CV3301188single nucleotide variantNM_032279.4(ATP13A4):c.1199G>T (p.Arg400Met)not specified [RCV004425786]uncertain significance3193466098193466098Humanname
405703738CV3301189single nucleotide variantNM_032279.4(ATP13A4):c.1200G>C (p.Arg400Ser)not specified [RCV004425787]uncertain significance3193466097193466097Humanname
405703750CV3301190single nucleotide variantNM_032279.4(ATP13A4):c.1241T>C (p.Ile414Thr)not specified [RCV004425788]uncertain significance3193466056193466056Humanname
405703755CV3301191single nucleotide variantNM_032279.4(ATP13A4):c.1322C>T (p.Ala441Val)not specified [RCV004425789]uncertain significance3193465079193465079Humanname
405703762CV3301192single nucleotide variantNM_032279.4(ATP13A4):c.1369G>A (p.Ala457Thr)not specified [RCV004425790]uncertain significance3193465032193465032Humanname
405703768CV3301193single nucleotide variantNM_032279.4(ATP13A4):c.1370C>T (p.Ala457Val)not specified [RCV004425791]uncertain significance3193465031193465031Humanname
405703776CV3301194single nucleotide variantNM_032279.4(ATP13A4):c.1393G>C (p.Gly465Arg)not specified [RCV004425792]uncertain significance3193465008193465008Humanname
405703783CV3301195single nucleotide variantNM_032279.4(ATP13A4):c.1412C>T (p.Pro471Leu)not specified [RCV004425793]uncertain significance3193464989193464989Humanname
405703791CV3301196single nucleotide variantNM_032279.4(ATP13A4):c.1916T>G (p.Val639Gly)not specified [RCV004425794]uncertain significance3193454212193454212Humanname
405703804CV3301197single nucleotide variantNM_032279.4(ATP13A4):c.1919C>T (p.Pro640Leu)not specified [RCV004425795]uncertain significance3193454209193454209Humanname
405703809CV3301198single nucleotide variantNM_032279.4(ATP13A4):c.1952C>T (p.Thr651Met)not specified [RCV004425796]uncertain significance3193454176193454176Humanname
405703824CV3301200single nucleotide variantNM_032279.4(ATP13A4):c.2115G>T (p.Glu705Asp)not specified [RCV004425798]uncertain significance3193448243193448243Humanname
405703835CV3301201single nucleotide variantNM_032279.4(ATP13A4):c.2266A>G (p.Ile756Val)not specified [RCV004425799]uncertain significance3193442443193442443Humanname
405703841CV3301202single nucleotide variantNM_032279.4(ATP13A4):c.2553T>G (p.Asn851Lys)not specified [RCV004425800]uncertain significance3193439032193439032Humanname
405703849CV3301203single nucleotide variantNM_032279.4(ATP13A4):c.2594T>C (p.Leu865Ser)not specified [RCV004425801]uncertain significance3193438553193438553Humanname
405703863CV3301205single nucleotide variantNM_032279.4(ATP13A4):c.2846A>G (p.Asn949Ser)not specified [RCV004425803]uncertain significance3193414747193414747Humanname
405703870CV3301206single nucleotide variantNM_032279.4(ATP13A4):c.2894G>A (p.Arg965Gln)not specified [RCV004425804]uncertain significance3193414699193414699Humanname
405703879CV3301207single nucleotide variantNM_032279.4(ATP13A4):c.2963C>T (p.Ala988Val)not specified [RCV004425805]likely benign3193414630193414630Humanname
407521015CV3486819single nucleotide variantNM_032279.4(ATP13A4):c.2011G>A (p.Ala671Thr)not specified [RCV004677147]likely benign3193454117193454117Humanname
407521043CV3486831single nucleotide variantNM_032279.4(ATP13A4):c.2345T>C (p.Val782Ala)not specified [RCV004677158]uncertain significance3193441560193441560Humanname
407521074CV3486842single nucleotide variantNM_032279.4(ATP13A4):c.2035G>A (p.Val679Ile)not specified [RCV004677167]uncertain significance3193448323193448323Humanname
407521127CV3486864single nucleotide variantNM_032279.4(ATP13A4):c.2932A>C (p.Asn978His)not specified [RCV004677186]uncertain significance3193414661193414661Humanname
407461156CV3486870single nucleotide variantNM_032279.4(ATP13A4):c.2332A>T (p.Ile778Phe)not specified [RCV004687581]uncertain significance3193441573193441573Humanname
407521186CV3486887single nucleotide variantNM_032279.4(ATP13A4):c.1019C>T (p.Ala340Val)not specified [RCV004677208]uncertain significance3193467411193467411Humanname
407461172CV3486896single nucleotide variantNM_032279.4(ATP13A4):c.2006A>G (p.His669Arg)not specified [RCV004687585]uncertain significance3193454122193454122Humanname
407521236CV3486907single nucleotide variantNM_032279.4(ATP13A4):c.1638C>G (p.Asp546Glu)not specified [RCV004677223]uncertain significance3193459117193459117Humanname
407521284CV3486928single nucleotide variantNM_032279.4(ATP13A4):c.2951C>T (p.Ala984Val)not specified [RCV004677241]uncertain significance3193414642193414642Humanname
597751058CV3619751single nucleotide variantNM_032279.4(ATP13A4):c.2534T>A (p.Met845Lys)not specified [RCV004866842]uncertain significance3193439051193439051Humanname
597751276CV3619799single nucleotide variantNM_032279.4(ATP13A4):c.2423G>T (p.Ser808Ile)not specified [RCV004866889]uncertain significance3193441482193441482Humanname
597751324CV3619809single nucleotide variantNM_032279.4(ATP13A4):c.2857G>A (p.Ala953Thr)not specified [RCV004866899]uncertain significance3193414736193414736Humanname
597751546CV3619870single nucleotide variantNM_032279.4(ATP13A4):c.2503G>A (p.Glu835Lys)not specified [RCV004866951]uncertain significance3193440574193440574Humanname
12836691CV367335single nucleotide variantNM_032279.4(ATP13A4):c.1396A>G (p.Ile466Val)not provided [RCV000423845]uncertain significance3193465005193465005Humanname
598163485CV3913187single nucleotide variantNM_032279.4(ATP13A4):c.1046G>A (p.Cys349Tyr)not specified [RCV005283130]uncertain significance3193467384193467384Humanname
598209323CV3913207single nucleotide variantNM_032279.4(ATP13A4):c.1214T>G (p.Leu405Arg)not specified [RCV005291673]uncertain significance3193466083193466083Humanname
598209356CV3913218single nucleotide variantNM_032279.4(ATP13A4):c.2446A>G (p.Ile816Val)not specified [RCV005291680]uncertain significance3193440631193440631Humanname
598163550CV3913221single nucleotide variantNM_032279.4(ATP13A4):c.2563G>A (p.Ala855Thr)not specified [RCV005283141]uncertain significance3193438584193438584Humanname
598209404CV3913234single nucleotide variantNM_032279.4(ATP13A4):c.2795A>G (p.Gln932Arg)not specified [RCV005291693]uncertain significance3193433892193433892Humanname
598209482CV3913254single nucleotide variantNM_032279.4(ATP13A4):c.1879C>A (p.Pro627Thr)not specified [RCV005291707]uncertain significance3193457036193457036Humanname
598209498CV3913258single nucleotide variantNM_032279.4(ATP13A4):c.2531G>A (p.Gly844Asp)not specified [RCV005291710]uncertain significance3193439054193439054Humanname
15164888CV708739single nucleotide variantNM_032279.4(ATP13A4):c.1921A>G (p.Thr641Ala)ATP13A4-related disorder [RCV003936104]|not provided [RCV000970829]benign3193454207193454207Humanname , trait , alternate_id
15163271CV733970single nucleotide variantNM_032279.4(ATP13A4):c.2860T>C (p.Tyr954His)ATP13A4-related disorder [RCV003932868]|not provided [RCV000903736]|not specified [RCV004028540]likely benign|uncertain significance3193414733193414733Humanname , trait , alternate_id
15172888CV733971single nucleotide variantNM_032279.4(ATP13A4):c.1745G>C (p.Cys582Ser)not provided [RCV000905758]likely benign3193457395193457395Humanname
40816150CV967229single nucleotide variantNM_032279.4(ATP13A4):c.1938A>T (p.Glu646Asp)ATP13A4-related disorder [RCV003918810]|Central core myopathy [RCV001258275]|not provided [RCV004716715]benign3193454190193454190Human1name , trait , alternate_id
156384016CV2220264single nucleotide variantNM_032279.4(ATP13A4):c.3485C>T (p.Pro1162Leu)not specified [RCV004095692]uncertain significance3193402758193402758Humanname
156079159CV2248542single nucleotide variantNM_032279.4(ATP13A4):c.3089A>G (p.Asn1030Ser)not specified [RCV004119667]uncertain significance3193412297193412297Humanname
156356730CV2257510single nucleotide variantNM_032279.4(ATP13A4):c.3524T>A (p.Met1175Lys)not specified [RCV004125571]uncertain significance3193402719193402719Humanname
156082776CV2333655single nucleotide variantNM_032279.4(ATP13A4):c.3106T>C (p.Phe1036Leu)not specified [RCV004192495]uncertain significance3193412280193412280Humanname
155913425CV2341776single nucleotide variantNM_032279.4(ATP13A4):c.3055A>G (p.Met1019Val)not specified [RCV004184734]uncertain significance3193412331193412331Humanname
156348265CV2375677single nucleotide variantNM_032279.4(ATP13A4):c.3360T>G (p.Ile1120Met)not specified [RCV004226151]uncertain significance3193407331193407331Humanname
156038998CV2390271single nucleotide variantNM_032279.4(ATP13A4):c.3376G>A (p.Glu1126Lys)not specified [RCV004240641]uncertain significance3193407315193407315Humanname
156260566CV2395559single nucleotide variantNM_032279.4(ATP13A4):c.3367C>T (p.Leu1123Phe)not specified [RCV004241412]uncertain significance3193407324193407324Humanname
329390114CV2457566single nucleotide variantNM_032279.4(ATP13A4):c.3244G>T (p.Val1082Leu)not specified [RCV004269156]uncertain significance3193411035193411035Humanname
405703884CV3301208single nucleotide variantNM_032279.4(ATP13A4):c.3223G>C (p.Val1075Leu)not specified [RCV004425806]uncertain significance3193411056193411056Humanname
405703893CV3301209single nucleotide variantNM_032279.4(ATP13A4):c.3289C>T (p.Arg1097Cys)not specified [RCV004425807]uncertain significance3193410990193410990Humanname
405703900CV3301210single nucleotide variantNM_032279.4(ATP13A4):c.3290G>A (p.Arg1097His)not specified [RCV004425808]uncertain significance3193410989193410989Humanname
405703912CV3301211single nucleotide variantNM_032279.4(ATP13A4):c.3326C>T (p.Ala1109Val)not specified [RCV004425809]likely benign3193407365193407365Humanname
405703920CV3301212single nucleotide variantNM_032279.4(ATP13A4):c.3466A>G (p.Arg1156Gly)not specified [RCV004425810]uncertain significance3193402777193402777Humanname
407521133CV3486866single nucleotide variantNM_032279.4(ATP13A4):c.3532T>C (p.Cys1178Arg)not specified [RCV004677188]uncertain significance3193402711193402711Humanname
407521165CV3486879single nucleotide variantNM_032279.4(ATP13A4):c.3539G>A (p.Arg1180Lys)not specified [RCV004677200]uncertain significance3193402704193402704Humanname
407521259CV3486917single nucleotide variantNM_032279.4(ATP13A4):c.3038G>A (p.Ser1013Asn)not specified [RCV004677232]uncertain significance3193412348193412348Humanname
597751346CV3619819single nucleotide variantNM_032279.4(ATP13A4):c.2998T>A (p.Ser1000Thr)not specified [RCV004866904]uncertain significance3193414595193414595Humanname
597751377CV3619829single nucleotide variantNM_032279.4(ATP13A4):c.3371T>C (p.Val1124Ala)not specified [RCV004866911]uncertain significance3193407320193407320Humanname
597751428CV3619840single nucleotide variantNM_032279.4(ATP13A4):c.3351G>C (p.Leu1117Phe)not specified [RCV004866922]uncertain significance3193407340193407340Humanname
597751500CV3619860single nucleotide variantNM_032279.4(ATP13A4):c.3314T>A (p.Val1105Asp)not specified [RCV004866941]uncertain significance3193407377193407377Humanname
598163473CV3913177single nucleotide variantNM_032279.4(ATP13A4):c.3313G>A (p.Val1105Ile)not specified [RCV005283128]likely benign3193407378193407378Humanname
15189652CV733968single nucleotide variantNM_032279.4(ATP13A4):c.3497C>T (p.Pro1166Leu)ATP13A4-related disorder [RCV003923129]|not provided [RCV000909715]benign|likely benign3193402746193402746Humanname , trait , alternate_id
15163265CV733969single nucleotide variantNM_032279.4(ATP13A4):c.3121G>A (p.Val1041Ile)ATP13A4-related disorder [RCV003950619]|not provided [RCV000903735]|not specified [RCV004028539]likely benign3193412265193412265Humanname , trait , alternate_id