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


121 records found for search term Rhag
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
127287957CV1152213single nucleotide variantNM_000324.3(RHAG):c.341+4A>Gnot provided [RCV001508186]uncertain significance64961917549619175Humanname
152109198CV1556475single nucleotide variantNM_000324.3(RHAG):c.807+9C>Tnot provided [RCV002096613]likely benign64961467849614678Humanname
8563451CV28100single nucleotide variantNM_000324.3(RHAG):c.157+1G>ARHAG-related disorder [RCV003415695]|Rh-null, regulator type [RCV000013936]|Rh-null, regulator type [RCV005042038]pathogenic64963665549636655Human2name , trait , alternate_id
8563452CV28101single nucleotide variantNM_000324.3(RHAG):c.946-1G>ARh-null, regulator type [RCV000013937]pathogenic64961114649611146Human1name
597894668CV3857225single nucleotide variantNM_000324.3(RHAG):c.946-5T>Gnot provided [RCV005201089]uncertain significance64961115049611150Humanname
127257931CV1055602single nucleotide variantNM_000324.3(RHAG):c.1139-2A>Gnot provided [RCV001379849]likely pathogenic64960692349606923Humanname
150337567CV1171597single nucleotide variantNM_000324.3(RHAG):c.946-18T>Cnot provided [RCV001541733]benign64961116349611163Humanname
150507152CV1256861single nucleotide variantNM_000324.3(RHAG):c.641-51G>Anot provided [RCV001678364]benign64961490449614904Humanname
150464184CV1273263deletionNM_000324.3(RHAG):c.945+76delnot provided [RCV001694020]benign64961232149612321Humanname
151792574CV1341488single nucleotide variantNM_000324.3(RHAG):c.1067+3G>Anot provided [RCV001866381]uncertain significance64961102149611021Humanname
152162882CV1537458single nucleotide variantNM_000324.3(RHAG):c.492+16T>Cnot provided [RCV002159958]benign64961805249618052Humanname
152147225CV1635602single nucleotide variantNM_000324.3(RHAG):c.1139-7G>Anot provided [RCV002201416]benign64960692849606928Humanname
155969387CV1968110single nucleotide variantNM_000324.3(RHAG):c.946-18T>Gnot provided [RCV002617110]benign64961116349611163Humanname
8563453CV28103single nucleotide variantNM_000324.3(RHAG):c.1067+1G>ARh deficiency syndrome [RCV003387721]|Rh-null, regulator type [RCV000013939]pathogenic64961102349611023Human1name
405240821CV2892984single nucleotide variantNM_000324.3(RHAG):c.1212+5T>Cnot provided [RCV003557287]benign|likely benign64960684349606843Humanname
402517532CV3135838single nucleotide variantNM_000324.3(RHAG):c.808-11C>Tnot provided [RCV003824464]likely benign64961254549612545Humanname
405268599CV3199009single nucleotide variantNM_000324.3(RHAG):c.808-10G>ARHAG-related disorder [RCV003912120]likely benign64961254449612544Humanname , trait , alternate_id
405278658CV3216720single nucleotide variantNM_000324.3(RHAG):c.1139-8C>TRHAG-related disorder [RCV003954605]likely benign64960692949606929Humanname , trait , alternate_id
597845972CV3761639single nucleotide variantNM_000324.3(RHAG):c.492+19A>Gnot provided [RCV005087239]likely benign64961804949618049Humanname
15099533CV787389single nucleotide variantNM_000324.3(RHAG):c.1067+8A>Gnot provided [RCV000975271]likely benign64961101649611016Humanname
127287955CV1152212single nucleotide variantNM_000324.3(RHAG):c.1068-26T>Cnot provided [RCV001508185]uncertain significance64960724649607246Humanname
150332395CV1169188single nucleotide variantNM_000324.3(RHAG):c.158-298T>Gnot provided [RCV001536863]benign64961966049619660Humanname
150465507CV1218032single nucleotide variantNM_000324.3(RHAG):c.158-267T>Cnot provided [RCV001614157]benign64961962949619629Humanname
150452894CV1219771single nucleotide variantNM_000324.3(RHAG):c.158-152A>Gnot provided [RCV001612152]benign64961951449619514Humanname
150493740CV1224464single nucleotide variantNM_000324.3(RHAG):c.946-100T>Cnot provided [RCV001619240]benign64961124549611245Humanname
150440761CV1233435single nucleotide variantNM_000324.3(RHAG):c.946-171C>Tnot provided [RCV001645123]benign64961131649611316Humanname
150480830CV1258801single nucleotide variantNM_000324.3(RHAG):c.807+280C>Tnot provided [RCV001685931]benign64961440749614407Humanname
150454509CV1259400single nucleotide variantNM_000324.3(RHAG):c.808-300A>Gnot provided [RCV001681174]benign64961283449612834Humanname
150455445CV1259868single nucleotide variantNM_000324.3(RHAG):c.808-236A>Gnot provided [RCV001681347]benign64961277049612770Humanname
150459707CV1264056single nucleotide variantNM_000324.3(RHAG):c.807+112G>Anot provided [RCV001681971]benign64961457549614575Humanname
150437845CV1286612single nucleotide variantNM_000324.3(RHAG):c.808-311T>Cnot provided [RCV001724691]benign64961284549612845Humanname
150442555CV1287743single nucleotide variantNM_000324.3(RHAG):c.341+260G>Cnot provided [RCV001725464]benign64961891949618919Humanname
150504556CV1211417single nucleotide variantNM_000324.3(RHAG):c.1212+207C>Anot provided [RCV001595582]benign64960664149606641Humanname
8599287CV28102single nucleotide variantNM_000324.3(RHAG):c.3G>T (p.Met1Ile)Rh mod blood group phenotype [RCV000013938]pathogenic64963681049636810Humanname
405115508CV3119219microsatelliteNM_000324.3(RHAG):c.946-18_946-16delnot provided [RCV003814255]benign64961116149611163Humanname
597962895CV3841339single nucleotide variantNM_000324.3(RHAG):c.64T>C (p.Leu22=)not provided [RCV005193442]likely benign64963674949636749Humanname
405120747CV3116535single nucleotide variantNM_000324.3(RHAG):c.213C>T (p.Phe71=)not provided [RCV003814836]likely benign64961930749619307Humanname
152153288CV1522969single nucleotide variantNM_000324.3(RHAG):c.861G>A (p.Ala287=)not provided [RCV002179783]benign64961248149612481Humanname
153303557CV1686348single nucleotide variantNM_000324.3(RHAG):c.939C>T (p.Phe313=)not provided [RCV002261781]uncertain significance64961240349612403Humanname
156147201CV2090940single nucleotide variantNM_000324.3(RHAG):c.83C>T (p.Thr28Met)RHAG-related disorder [RCV003916558]|not provided [RCV002890528]likely benign64963673049636730Human1name , trait , alternate_id
596928366CV3540179deletionNM_000324.3(RHAG):c.212del (p.Phe71fs)not provided [RCV004791172]likely pathogenic64961930849619308Humanname
597956108CV3754538single nucleotide variantNM_000324.3(RHAG):c.519G>T (p.Thr173=)not provided [RCV005080388]likely benign64961574549615745Humanname
597955922CV3792283single nucleotide variantNM_000324.3(RHAG):c.957T>C (p.Thr319=)not provided [RCV005137170]likely benign64961113449611134Humanname
597960730CV3840304single nucleotide variantNM_000324.3(RHAG):c.618C>T (p.Tyr206=)not provided [RCV005192788]likely benign64961564649615646Humanname
597952629CV3843736single nucleotide variantNM_000324.3(RHAG):c.474G>A (p.Leu158=)not provided [RCV005190598]likely benign64961808649618086Humanname
15118514CV750111single nucleotide variantNM_000324.3(RHAG):c.990C>T (p.Val330=)not provided [RCV000917988]likely benign64961110149611101Humanname
126910181CV1037720single nucleotide variantNM_000324.3(RHAG):c.209C>T (p.Thr70Ile)not provided [RCV001354429]uncertain significance64961931149619311Humanname
150536195CV1312333single nucleotide variantNM_000324.3(RHAG):c.140T>C (p.Phe47Ser)altered red cell phenotype [RCV001780089]|not specified [RCV005237985]affects|uncertain significance64963667349636673Humanname
153303559CV1686350single nucleotide variantNM_000324.3(RHAG):c.199T>C (p.Phe67Leu)RHAG-related disorder [RCV003903643]|not provided [RCV002261783]likely benign|conflicting interpretations of pathogenicity|uncertain significance64961932149619321Human1name , trait , alternate_id
153303560CV1686351single nucleotide variantNM_000324.3(RHAG):c.187G>C (p.Val63Leu)not provided [RCV002261784]|not specified [RCV004047415]conflicting interpretations of pathogenicity|uncertain significance64961933349619333Humanname
156147270CV2128291single nucleotide variantNM_000324.3(RHAG):c.256G>A (p.Val86Ile)not provided [RCV002928777]uncertain significance64961926449619264Humanname
10449597CV214932single nucleotide variantNM_000324.3(RHAG):c.194T>C (p.Phe65Ser)Overhydrated hereditary stomatocytosis [RCV000202428]|not provided [RCV001781607]pathogenic64961932649619326Human1name
10449596CV214933single nucleotide variantNM_000324.3(RHAG):c.182T>G (p.Ile61Arg)Overhydrated hereditary stomatocytosis [RCV000202426]pathogenic64961933849619338Human1name
156079370CV2226538single nucleotide variantNM_000324.3(RHAG):c.145G>C (p.Glu49Gln)not provided [RCV003135231]|not specified [RCV004101799]uncertain significance64963666849636668Humanname
243060174CV2413738single nucleotide variantNM_000324.3(RHAG):c.172C>T (p.His58Tyr)not provided [RCV003135763]uncertain significance64961934849619348Humanname
243060175CV2413739single nucleotide variantNM_000324.3(RHAG):c.138A>G (p.Ile46Met)not provided [RCV003135764]|not specified [RCV004661623]uncertain significance64963667549636675Humanname
243051565CV2413744single nucleotide variantNM_000324.3(RHAG):c.1101C>T (p.Ser367=)not provided [RCV003130410]conflicting interpretations of pathogenicity|uncertain significance64960718749607187Humanname
243060179CV2413745single nucleotide variantNM_000324.3(RHAG):c.267G>C (p.Leu89Phe)not provided [RCV003135768]uncertain significance64961925349619253Humanname
243060181CV2413747single nucleotide variantNM_000324.3(RHAG):c.102G>C (p.Glu34Asp)not provided [RCV003135770]uncertain significance64963671149636711Humanname
401902562CV2802136single nucleotide variantNM_000324.3(RHAG):c.287T>C (p.Ile96Thr)RHAG-related disorder [RCV003418933]uncertain significance64961923349619233Humanname , trait , alternate_id
8599285CV28098single nucleotide variantNM_000324.3(RHAG):c.236G>A (p.Ser79Asn)Rh mod blood group phenotype [RCV000013934]pathogenic64961928449619284Humanname
404992866CV2850904single nucleotide variantNM_000324.3(RHAG):c.208A>C (p.Thr70Pro)not provided [RCV003491402]uncertain significance64961931249619312Humanname
405065122CV2879081single nucleotide variantNM_000324.3(RHAG):c.1107C>T (p.Ile369=)not provided [RCV003548183]benign64960718149607181Humanname
405138225CV2963359single nucleotide variantNM_000324.3(RHAG):c.168T>A (p.Asp56Glu)not provided [RCV003668971]uncertain significance64961935249619352Humanname
405716303CV3309310single nucleotide variantNM_000324.3(RHAG):c.110A>G (p.Asn37Ser)not specified [RCV004449249]uncertain significance64963670349636703Humanname
150546582CV1313812single nucleotide variantNM_000324.3(RHAG):c.471C>A (p.Tyr157Ter)not provided [RCV001784912]pathogenic64961808949618089Humanname
153303558CV1686349single nucleotide variantNM_000324.3(RHAG):c.329T>C (p.Ile110Thr)not provided [RCV002261782]uncertain significance64961919149619191Humanname
155976936CV2073128single nucleotide variantNM_000324.3(RHAG):c.899G>A (p.Gly300Glu)not provided [RCV002842335]uncertain significance64961244349612443Humanname
156386870CV2225228single nucleotide variantNM_000324.3(RHAG):c.572G>T (p.Arg191Leu)not specified [RCV004095023]uncertain significance64961569249615692Humanname
156010575CV2291044single nucleotide variantNM_000324.3(RHAG):c.611C>T (p.Ala204Val)not provided [RCV003777893]|not specified [RCV004151579]likely benign|uncertain significance64961565349615653Humanname
243060173CV2413737single nucleotide variantNM_000324.3(RHAG):c.437T>C (p.Ile146Thr)RHAG-related disorder [RCV003946445]|not provided [RCV003135762]|not specified [RCV004673843]uncertain significance64961812349618123Human1name , trait , alternate_id
243060176CV2413740single nucleotide variantNM_000324.3(RHAG):c.532G>A (p.Gly178Arg)not provided [RCV003135765]uncertain significance64961573249615732Humanname
243060178CV2413743single nucleotide variantNM_000324.3(RHAG):c.791G>A (p.Arg264Gln)not provided [RCV003135767]uncertain significance64961470349614703Humanname
243060180CV2413746single nucleotide variantNM_000324.3(RHAG):c.995A>G (p.Asn332Ser)not provided [RCV003135769]uncertain significance64961109649611096Humanname
243051118CV2413748single nucleotide variantNM_000324.3(RHAG):c.958A>T (p.Thr320Ser)not provided [RCV003130411]uncertain significance64961113349611133Humanname
243051494CV2415931single nucleotide variantNM_000324.3(RHAG):c.974A>G (p.His325Arg)Overhydrated hereditary stomatocytosis [RCV003148551]uncertain significance64961111749611117Human1name
329393070CV2449478single nucleotide variantNM_000324.3(RHAG):c.362G>A (p.Ser121Asn)not specified [RCV004268421]uncertain significance64961819849618198Humanname
401738663CV2738338single nucleotide variantNM_000324.3(RHAG):c.827C>G (p.Thr276Ser)not specified [RCV003317728]uncertain significance64961251549612515Humanname
401797350CV2742169single nucleotide variantNM_000324.3(RHAG):c.572G>A (p.Arg191Gln)not specified [RCV003324347]uncertain significance64961569249615692Humanname
8563450CV28097deletionNM_000324.3(RHAG):c.1086del (p.Ala363fs)Rh-null, regulator type [RCV000013933]pathogenic64960720249607202Human1name
8599286CV28099single nucleotide variantNM_000324.3(RHAG):c.836G>A (p.Gly279Glu)Overhydrated hereditary stomatocytosis [RCV004595881]|Rh-null, regulator type [RCV000013935]pathogenic|likely pathogenic64961250649612506Human2name
12907299CV28104single nucleotide variantNM_000324.3(RHAG):c.808G>A (p.Val270Ile)Rh-null, regulator type [RCV000490272]|Rh-null, regulator type [RCV002485373]|not provided [RCV002057061]benign|likely benign64961253449612534Human1name
401925523CV2820424single nucleotide variantNM_000324.3(RHAG):c.911G>A (p.Gly304Glu)not provided [RCV003436581]uncertain significance64961243149612431Humanname
401925524CV2820425single nucleotide variantNM_000324.3(RHAG):c.352G>C (p.Ala118Pro)not provided [RCV003436582]uncertain significance64961820849618208Humanname
401940527CV2839376single nucleotide variantNM_000324.3(RHAG):c.920C>T (p.Ser307Phe)Rh mod blood group phenotype [RCV003448948]pathogenic64961242249612422Humanname
401940528CV2839377single nucleotide variantNM_000324.3(RHAG):c.544G>A (p.Gly182Ser)Rh-null, regulator type [RCV003448949]pathogenic64961572049615720Human1name
401961633CV2843955single nucleotide variantNM_000324.3(RHAG):c.518C>T (p.Thr173Met)not provided [RCV003481794]uncertain significance64961574649615746Humanname
404992850CV2850902single nucleotide variantNM_000324.3(RHAG):c.464A>G (p.Asn155Ser)not provided [RCV003491400]uncertain significance64961809649618096Humanname
404992858CV2850903single nucleotide variantNM_000324.3(RHAG):c.514A>G (p.Met172Val)not provided [RCV003491401]uncertain significance64961575049615750Humanname
404992875CV2850905single nucleotide variantNM_000324.3(RHAG):c.695C>T (p.Pro232Leu)not provided [RCV003491403]uncertain significance64961479949614799Humanname
405013315CV3128267single nucleotide variantNM_000324.3(RHAG):c.797A>G (p.Lys266Arg)not provided [RCV003829147]|not specified [RCV004366797]uncertain significance64961469749614697Humanname
407474432CV3472874single nucleotide variantNM_000324.3(RHAG):c.881T>G (p.Phe294Cys)not specified [RCV004662998]uncertain significance64961246149612461Humanname
597788232CV3586452single nucleotide variantNM_000324.3(RHAG):c.733T>C (p.Phe245Leu)not specified [RCV004855444]uncertain significance64961476149614761Humanname
597776007CV3586454single nucleotide variantNM_000324.3(RHAG):c.636G>C (p.Met212Ile)not specified [RCV004852403]uncertain significance64961562849615628Humanname
597776011CV3586455single nucleotide variantNM_000324.3(RHAG):c.920C>G (p.Ser307Cys)not specified [RCV004852404]uncertain significance64961242249612422Humanname
597964319CV3830446single nucleotide variantNM_000324.3(RHAG):c.421A>T (p.Met141Leu)not provided [RCV005164586]uncertain significance64961813949618139Humanname
597935618CV3845273single nucleotide variantNM_000324.3(RHAG):c.574T>G (p.Ser192Ala)not provided [RCV005186586]uncertain significance64961569049615690Humanname
598176684CV4008171single nucleotide variantNM_000324.3(RHAG):c.638T>C (p.Ile213Thr)Rh-null, regulator type [RCV005393687]uncertain significance64961562649615626Human1name
598176691CV4008172single nucleotide variantNM_000324.3(RHAG):c.860C>T (p.Ala287Val)Rh-null, regulator type [RCV005393688]uncertain significance64961248249612482Human1name
13435520CV432276single nucleotide variantNM_000324.3(RHAG):c.447T>G (p.Ile149Met)Overhydrated hereditary stomatocytosis [RCV000505544]pathogenic64961811349618113Human1name
8626231CV81375single nucleotide variantNM_000324.2(RHAG):c.541T>G (p.Phe181Val)Malignant melanoma [RCV000061453]not provided64961572349615723Humanname
126914621CV1037719single nucleotide variantNM_000324.3(RHAG):c.1147C>A (p.Leu383Ile)not provided [RCV001358411]|not specified [RCV004034501]uncertain significance64960691349606913Humanname
156297089CV2240818single nucleotide variantNM_000324.3(RHAG):c.1108G>A (p.Gly370Arg)Rh-null, regulator type [RCV004700984]|not specified [RCV004102113]likely pathogenic|uncertain significance64960718049607180Human1name
243060172CV2413736single nucleotide variantNM_000324.3(RHAG):c.1204T>C (p.Tyr402His)not provided [RCV003135761]uncertain significance64960685649606856Humanname
243051109CV2413741single nucleotide variantNM_000324.3(RHAG):c.1165G>A (p.Gly389Arg)not provided [RCV003130409]uncertain significance64960689549606895Humanname
243060177CV2413742single nucleotide variantNM_000324.3(RHAG):c.1094T>G (p.Leu365Arg)not provided [RCV003135766]uncertain significance64960719449607194Humanname
401760731CV2695141single nucleotide variantNM_000324.3(RHAG):c.1085C>T (p.Ala362Val)not specified [RCV004303295]uncertain significance64960720349607203Humanname
401937955CV2797249single nucleotide variantNM_000324.3(RHAG):c.1018G>A (p.Val340Met)RHAG-related disorder [RCV003417040]|not specified [RCV004362842]uncertain significance64961107349611073Human1name , trait , alternate_id
8599288CV28105single nucleotide variantNM_000324.3(RHAG):c.1139G>T (p.Gly380Val)Rh-null, regulator type [RCV000013941]pathogenic64960692149606921Human1name
405225758CV3068451single nucleotide variantNM_000324.3(RHAG):c.1057G>A (p.Ala353Thr)RHAG-related disorder [RCV003956529]|not provided [RCV003734015]likely benign64961103449611034Human1name , trait , alternate_id
405032819CV3130343single nucleotide variantNM_000324.3(RHAG):c.1015G>A (p.Val339Ile)not provided [RCV003830750]|not specified [RCV004847996]uncertain significance64961107649611076Humanname
405716311CV3309311single nucleotide variantNM_000324.3(RHAG):c.1112C>T (p.Thr371Ile)not specified [RCV004449250]uncertain significance64960717649607176Humanname
405871838CV3398097single nucleotide variantNM_000324.3(RHAG):c.1165G>C (p.Gly389Arg)not provided [RCV004575098]likely benign64960689549606895Humanname
408380532CV3501187single nucleotide variantNM_000324.3(RHAG):c.1034G>A (p.Gly345Asp)not provided [RCV004727275]likely pathogenic|uncertain significance64961105749611057Humanname
408383628CV3526811single nucleotide variantNM_000324.3(RHAG):c.1078A>G (p.Met360Val)not provided [RCV004772124]uncertain significance64960721049607210Humanname
597788237CV3586456single nucleotide variantNM_000324.3(RHAG):c.1194T>A (p.Asp398Glu)not specified [RCV004855445]uncertain significance64960686649606866Humanname
597947335CV3817882single nucleotide variantNM_000324.3(RHAG):c.1025G>A (p.Gly342Asp)not provided [RCV005160349]uncertain significance64961106649611066Humanname
597864767CV3861106single nucleotide variantNM_000324.3(RHAG):c.1163G>A (p.Trp388Ter)not provided [RCV005196454]pathogenic64960689749606897Humanname
598189595CV3902641single nucleotide variantNM_000324.3(RHAG):c.1226G>C (p.Arg409Thr)not specified [RCV005266735]uncertain significance64960581749605817Humanname
13435555CV432275single nucleotide variantNM_000324.3(RHAG):c.1007T>C (p.Leu336Ser)Overhydrated hereditary stomatocytosis [RCV000505587]uncertain significance64961108449611084Human1name
8599284CV28096indelNM_000324.3(RHAG):c.154_157delinsGA (p.Pro52fs)Rh-null, regulator type [RCV000013932]pathogenic64963665649636659Humanname