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


90 records found for search term Treh
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405282829CV3191137single nucleotide variantNM_007180.3(TREH):c.423+6A>TTREH-related disorder [RCV003921549]likely benign11118662875118662875Humanname , trait , alternate_id
405287098CV3205556single nucleotide variantNM_007180.3(TREH):c.424-9C>TTREH-related disorder [RCV003959702]likely benign11118661999118661999Humanname , trait , alternate_id
13506351CV481155deletionNM_007180.3(TREH):c.90-9_106delalpha, alpha-Trehalase deficiency [RCV000578124]pathogenic|conflicting interpretations of pathogenicity11118663423118663448Human1name , trait , alternate_id
405285022CV3202325single nucleotide variantNM_007180.3(TREH):c.156G>A (p.Lys52=)TREH-related disorder [RCV003909598]benign11118663373118663373Human3name , trait , alternate_id
405294236CV3214689single nucleotide variantNM_007180.3(TREH):c.249G>A (p.Arg83=)TREH-related disorder [RCV003934123]likely benign11118663138118663138Humanname , trait , alternate_id
405261065CV3216220single nucleotide variantNM_007180.3(TREH):c.192A>G (p.Glu64=)TREH-related disorder [RCV003944350]likely benign11118663195118663195Humanname , trait , alternate_id
405292833CV3217616single nucleotide variantNM_007180.3(TREH):c.111G>A (p.Glu37=)TREH-related disorder [RCV003964780]likely benign11118663418118663418Humanname , trait , alternate_id
15159993CV701599variationNM_007180.3(TREH):c.1734= (p.Leu578=)not provided [RCV000947391]benign11118658307118658307Humanname
405268688CV3201064single nucleotide variantNM_007180.3(TREH):c.768C>T (p.Asp256=)TREH-related disorder [RCV003899174]likely benign11118661249118661249Humanname , trait , alternate_id
405282635CV3212974single nucleotide variantNM_007180.3(TREH):c.723C>G (p.Thr241=)TREH-related disorder [RCV003957082]likely benign11118661404118661404Humanname , trait , alternate_id
405265739CV3215678single nucleotide variantNM_007180.3(TREH):c.576G>A (p.Thr192=)TREH-related disorder [RCV003946852]likely benign11118661678118661678Humanname , trait , alternate_id
405292712CV3217280single nucleotide variantNM_007180.3(TREH):c.645C>T (p.Arg215=)TREH-related disorder [RCV003964703]likely benign11118661482118661482Humanname , trait , alternate_id
156289159CV2229876single nucleotide variantNM_007180.3(TREH):c.121C>A (p.Gln41Lys)not specified [RCV004105433]uncertain significance11118663408118663408Humanname
156081688CV2292840single nucleotide variantNM_007180.3(TREH):c.259C>A (p.Gln87Lys)alpha, alpha-Trehalase deficiency [RCV003140178]|not specified [RCV004148355]uncertain significance11118663128118663128Human1name , trait , alternate_id
329380157CV2466447single nucleotide variantNM_007180.3(TREH):c.176T>G (p.Leu59Arg)not specified [RCV004274003]uncertain significance11118663353118663353Humanname
401747881CV2698869single nucleotide variantNM_007180.3(TREH):c.293G>A (p.Gly98Glu)not specified [RCV004301636]uncertain significance11118663094118663094Humanname
401859424CV2771596single nucleotide variantNM_007180.3(TREH):c.212C>T (p.Thr71Ile)not specified [RCV004350403]uncertain significance11118663175118663175Humanname
405268018CV3189565single nucleotide variantNM_007180.3(TREH):c.1155C>T (p.Ala385=)TREH-related disorder [RCV003898959]likely benign11118659912118659912Humanname , trait , alternate_id
405259119CV3194541single nucleotide variantNM_007180.3(TREH):c.1062C>T (p.Cys354=)TREH-related disorder [RCV003893936]likely benign11118660579118660579Humanname , trait , alternate_id
405275620CV3196419single nucleotide variantNM_007180.3(TREH):c.1590T>C (p.Tyr530=)TREH-related disorder [RCV003974255]likely benign11118658689118658689Humanname , trait , alternate_id
405288481CV3197413single nucleotide variantNM_007180.3(TREH):c.1623C>T (p.Gly541=)TREH-related disorder [RCV003982509]benign11118658418118658418Humanname , trait , alternate_id
405267891CV3219490single nucleotide variantNM_007180.3(TREH):c.1101G>A (p.Leu367=)TREH-related disorder [RCV003969707]likely benign11118660540118660540Humanname , trait , alternate_id
405789084CV3340449single nucleotide variantNM_007180.3(TREH):c.125T>C (p.Val42Ala)not specified [RCV004473494]uncertain significance11118663404118663404Humanname
407522100CV3492660single nucleotide variantNM_007180.3(TREH):c.147G>C (p.Gln49His)not specified [RCV004677554]uncertain significance11118663382118663382Humanname
598129509CV3886922single nucleotide variantNM_007180.3(TREH):c.262G>A (p.Ala88Thr)not provided [RCV005244982]likely benign11118663125118663125Humanname
126734610CV1020814single nucleotide variantNM_007180.3(TREH):c.926G>A (p.Trp309Ter)alpha, alpha-Trehalase deficiency [RCV001334648]pathogenic11118660715118660715Humanname , trait , alternate_id
156184253CV2195474single nucleotide variantNM_007180.3(TREH):c.356T>G (p.Ile119Ser)not specified [RCV004082699]uncertain significance11118662948118662948Humanname
156143785CV2200113single nucleotide variantNM_007180.3(TREH):c.854C>A (p.Pro285His)not specified [RCV004069686]uncertain significance11118661163118661163Humanname
156255428CV2229294single nucleotide variantNM_007180.3(TREH):c.913C>T (p.Arg305Trp)TREH-related disorder [RCV003928901]|not specified [RCV004101094]likely benign|uncertain significance11118660728118660728Human1name , trait , alternate_id
156047543CV2244879single nucleotide variantNM_007180.3(TREH):c.499G>A (p.Gly167Ser)not specified [RCV004104634]uncertain significance11118661915118661915Humanname
155993366CV2253575single nucleotide variantNM_007180.3(TREH):c.455G>A (p.Arg152Gln)not specified [RCV004125265]likely benign11118661959118661959Humanname
155993378CV2253576single nucleotide variantNM_007180.3(TREH):c.463C>A (p.Leu155Ile)not specified [RCV004125266]uncertain significance11118661951118661951Humanname
156215982CV2386028single nucleotide variantNM_007180.3(TREH):c.724G>A (p.Ala242Thr)not specified [RCV004229094]likely benign11118661403118661403Humanname
156262824CV2391618single nucleotide variantNM_007180.3(TREH):c.952T>G (p.Ser318Ala)not specified [RCV004241782]uncertain significance11118660689118660689Humanname
156005507CV2401098single nucleotide variantNM_007180.3(TREH):c.674C>T (p.Pro225Leu)not specified [RCV004245669]uncertain significance11118661453118661453Humanname
401771214CV2675499single nucleotide variantNM_007180.3(TREH):c.643C>T (p.Arg215Cys)not specified [RCV004295117]uncertain significance11118661484118661484Humanname
401753931CV2685106single nucleotide variantNM_007180.3(TREH):c.808G>A (p.Gly270Arg)not specified [RCV004289678]uncertain significance11118661209118661209Humanname
401747884CV2698870single nucleotide variantNM_007180.3(TREH):c.388C>A (p.Gln130Lys)not specified [RCV004301637]uncertain significance11118662916118662916Humanname
405789107CV3340455single nucleotide variantNM_007180.3(TREH):c.772T>C (p.Trp258Arg)not specified [RCV004473500]uncertain significance11118661245118661245Humanname
405789111CV3340456single nucleotide variantNM_007180.3(TREH):c.826A>C (p.Asn276His)not specified [RCV004473501]uncertain significance11118661191118661191Humanname
407425033CV3409315single nucleotide variantNM_007180.3(TREH):c.983T>C (p.Ile328Thr)not provided [RCV004585246]likely benign11118660658118660658Humanname
407522102CV3492661single nucleotide variantNM_007180.3(TREH):c.644G>A (p.Arg215His)not specified [RCV004677555]uncertain significance11118661483118661483Humanname
407461357CV3492662single nucleotide variantNM_007180.3(TREH):c.307C>T (p.Pro103Ser)not specified [RCV004687633]uncertain significance11118663080118663080Humanname
597796683CV3617441single nucleotide variantNM_007180.3(TREH):c.454C>T (p.Arg152Trp)not specified [RCV004878577]uncertain significance11118661960118661960Humanname
597796698CV3617446single nucleotide variantNM_007180.3(TREH):c.401T>C (p.Leu134Pro)not specified [RCV004878582]uncertain significance11118662903118662903Humanname
597796704CV3617448single nucleotide variantNM_007180.3(TREH):c.830G>A (p.Arg277His)not specified [RCV004878584]uncertain significance11118661187118661187Humanname
12849615CV364048single nucleotide variantNM_007180.3(TREH):c.419A>G (p.Lys140Arg)not provided [RCV000432910]likely benign11118662885118662885Humanname
598273847CV3924832single nucleotide variantNM_007180.3(TREH):c.829C>T (p.Arg277Cys)not specified [RCV005303634]uncertain significance11118661188118661188Humanname
598273849CV3924835single nucleotide variantNM_007180.3(TREH):c.418A>C (p.Lys140Gln)not specified [RCV005303635]uncertain significance11118662886118662886Humanname
598202148CV3924838single nucleotide variantNM_007180.3(TREH):c.839T>C (p.Val280Ala)not specified [RCV005290321]uncertain significance11118661178118661178Humanname
598273855CV3924842single nucleotide variantNM_007180.3(TREH):c.721A>G (p.Thr241Ala)not specified [RCV005303638]uncertain significance11118661406118661406Humanname
156284282CV2231182single nucleotide variantNM_007180.3(TREH):c.1594G>A (p.Val532Ile)not specified [RCV004094386]uncertain significance11118658685118658685Humanname
155981988CV2233139single nucleotide variantNM_007180.3(TREH):c.1555A>G (p.Ser519Gly)not specified [RCV004103753]uncertain significance11118658724118658724Humanname
156120905CV2233809single nucleotide variantNM_007180.3(TREH):c.1574G>A (p.Gly525Asp)not specified [RCV004102028]uncertain significance11118658705118658705Humanname
156302619CV2258703single nucleotide variantNM_007180.3(TREH):c.1375G>A (p.Gly459Ser)not specified [RCV004117944]uncertain significance11118659427118659427Humanname
156242389CV2262057single nucleotide variantNM_007180.3(TREH):c.1355C>T (p.Pro452Leu)not specified [RCV004126534]uncertain significance11118659447118659447Humanname
156278777CV2284984single nucleotide variantNM_007180.3(TREH):c.1066G>A (p.Ala356Thr)not specified [RCV004143419]uncertain significance11118660575118660575Humanname
156278571CV2297455single nucleotide variantNM_007180.3(TREH):c.1306C>G (p.Leu436Val)not specified [RCV004153390]uncertain significance11118659761118659761Humanname
156188973CV2302914single nucleotide variantNM_007180.3(TREH):c.1588T>C (p.Tyr530His)not specified [RCV004162799]uncertain significance11118658691118658691Humanname
156200752CV2338261single nucleotide variantNM_007180.3(TREH):c.1457G>A (p.Arg486Gln)TREH-related disorder [RCV003963752]|not specified [RCV004186321]likely benign|uncertain significance11118658993118658993Human1name , trait , alternate_id
156216366CV2347991single nucleotide variantNM_007180.3(TREH):c.1696C>T (p.His566Tyr)TREH-related disorder [RCV003954014]|not specified [RCV004197675]likely benign|uncertain significance11118658345118658345Human1name , trait , alternate_id
156257566CV2368951single nucleotide variantNM_007180.3(TREH):c.1524G>T (p.Gln508His)TREH-related disorder [RCV003936678]|not specified [RCV004207900]uncertain significance11118658926118658926Human1name , trait , alternate_id
401776679CV2711259single nucleotide variantNM_007180.3(TREH):c.1603G>A (p.Gly535Arg)not specified [RCV004313045]uncertain significance11118658438118658438Humanname
401779639CV2714658single nucleotide variantNM_007180.3(TREH):c.1658G>A (p.Arg553Gln)not specified [RCV004320240]uncertain significance11118658383118658383Humanname
405293406CV3191848single nucleotide variantNM_007180.3(TREH):c.1015A>G (p.Ile339Val)TREH-related disorder [RCV003931832]benign11118660626118660626Humanname , trait , alternate_id
405290417CV3200878single nucleotide variantNM_007180.3(TREH):c.1165A>G (p.Thr389Ala)TREH-related disorder [RCV003984542]benign11118659902118659902Human1name , trait , alternate_id
405287110CV3210550single nucleotide variantNM_007180.3(TREH):c.1525A>T (p.Lys509Ter)TREH-related disorder [RCV003924330]uncertain significance11118658925118658925Humanname , trait , alternate_id
405270824CV3219820single nucleotide variantNM_007180.3(TREH):c.1535T>C (p.Met512Thr)TREH-related disorder [RCV003971550]likely benign11118658915118658915Humanname , trait , alternate_id
405789072CV3340446single nucleotide variantNM_007180.3(TREH):c.1085A>G (p.Asn362Ser)not specified [RCV004473491]uncertain significance11118660556118660556Humanname
405789076CV3340447single nucleotide variantNM_007180.3(TREH):c.1109A>G (p.Asp370Gly)not specified [RCV004473492]uncertain significance11118659958118659958Humanname
405789080CV3340448single nucleotide variantNM_007180.3(TREH):c.1232G>A (p.Arg411Gln)not specified [RCV004473493]likely benign11118659835118659835Humanname
405789088CV3340450single nucleotide variantNM_007180.3(TREH):c.1291G>A (p.Val431Met)not specified [RCV004473495]uncertain significance11118659776118659776Humanname
405789092CV3340451single nucleotide variantNM_007180.3(TREH):c.1495A>G (p.Ile499Val)not specified [RCV004473496]uncertain significance11118658955118658955Humanname
405789100CV3340453single nucleotide variantNM_007180.3(TREH):c.1625T>A (p.Val542Glu)not specified [RCV004473498]uncertain significance11118658416118658416Humanname
405789103CV3340454single nucleotide variantNM_007180.3(TREH):c.1693C>A (p.Pro565Thr)not specified [RCV004473499]uncertain significance11118658348118658348Humanname
597796680CV3617440single nucleotide variantNM_007180.3(TREH):c.1646G>A (p.Arg549His)not specified [RCV004878576]uncertain significance11118658395118658395Humanname
597796685CV3617442single nucleotide variantNM_007180.3(TREH):c.1472C>T (p.Ala491Val)not specified [RCV004878578]uncertain significance11118658978118658978Humanname
597796688CV3617443single nucleotide variantNM_007180.3(TREH):c.1640T>G (p.Leu547Arg)not specified [RCV004878579]uncertain significance11118658401118658401Humanname
597796691CV3617444single nucleotide variantNM_007180.3(TREH):c.1185G>C (p.Gln395His)not specified [RCV004878580]uncertain significance11118659882118659882Humanname
597796694CV3617445single nucleotide variantNM_007180.3(TREH):c.1576G>C (p.Gly526Arg)not specified [RCV004878581]uncertain significance11118658703118658703Humanname
597796700CV3617447single nucleotide variantNM_007180.3(TREH):c.1583G>T (p.Gly528Val)not specified [RCV004878583]uncertain significance11118658696118658696Humanname
12848954CV363659single nucleotide variantNM_007180.3(TREH):c.1345T>C (p.Tyr449His)not provided [RCV000421446]likely benign11118659457118659457Humanname
598202136CV3924834single nucleotide variantNM_007180.3(TREH):c.1406C>A (p.Ala469Asp)not specified [RCV005290319]uncertain significance11118659396118659396Humanname
598202142CV3924836single nucleotide variantNM_007180.3(TREH):c.1087T>C (p.Phe363Leu)not specified [RCV005290320]uncertain significance11118660554118660554Humanname
598273851CV3924837single nucleotide variantNM_007180.3(TREH):c.1231C>T (p.Arg411Trp)not specified [RCV005303636]uncertain significance11118659836118659836Humanname
598273853CV3924839single nucleotide variantNM_007180.3(TREH):c.1316T>G (p.Leu439Arg)not specified [RCV005303637]uncertain significance11118659751118659751Humanname
598202152CV3924840single nucleotide variantNM_007180.3(TREH):c.1126T>C (p.Tyr376His)not specified [RCV005290322]uncertain significance11118659941118659941Humanname
598202158CV3924841single nucleotide variantNM_007180.3(TREH):c.1043A>G (p.Asp348Gly)not specified [RCV005290323]uncertain significance11118660598118660598Humanname
126734607CV1020813duplicationNM_007180.3(TREH):c.1748_*1dup (p.Trp583_Ter584=)alpha, alpha-Trehalase deficiency [RCV001334647]pathogenic11118658287118658288Humanname , trait , alternate_id
408366970CV3508354indelNM_007180.3(TREH):c.1524_1525delinsTT (p.Gln508_Lys509delinsHisTer)TREH-related disorder [RCV004757658]uncertain significance11118658925118658926Humanname , trait , alternate_id