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


52 records found for search term Rfx8
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15158094CV707629single nucleotide variantNM_001145664.2(RFX8):c.57G>C (p.Pro19=)not provided [RCV000969440]likely benign2101466792101466792Humanname
156283428CV2348936single nucleotide variantNM_001145664.2(RFX8):c.16G>A (p.Val6Met)not specified [RCV004203370]likely benign2101466833101466833Humanname
401916733CV2812175single nucleotide variantNM_001145664.2(RFX8):c.246C>T (p.Asp82=)not provided [RCV003429207]likely benign2101418956101418956Humanname
598217514CV3905846single nucleotide variantNM_001145664.2(RFX8):c.13T>C (p.Tyr5His)not specified [RCV005272019]uncertain significance2101466836101466836Humanname
401751568CV2672499single nucleotide variantNM_001145664.2(RFX8):c.47A>C (p.Gln16Pro)not specified [RCV004287538]uncertain significance2101466802101466802Humanname
405660580CV3312775single nucleotide variantNM_001145664.2(RFX8):c.38C>G (p.Thr13Ser)not specified [RCV004438903]uncertain significance2101466811101466811Humanname
407459986CV3472672single nucleotide variantNM_001145664.2(RFX8):c.49G>A (p.Val17Ile)not specified [RCV004658362]uncertain significance2101466800101466800Humanname
156087893CV2201942single nucleotide variantNM_001145664.2(RFX8):c.184A>G (p.Met62Val)not specified [RCV004075872]uncertain significance2101421777101421777Humanname
155979397CV2339088single nucleotide variantNM_001145664.2(RFX8):c.254C>G (p.Thr85Ser)not specified [RCV004187134]uncertain significance2101418948101418948Humanname
156132651CV2350164single nucleotide variantNM_001145664.2(RFX8):c.233G>A (p.Arg78Gln)not specified [RCV004200080]likely benign2101421728101421728Humanname
156144959CV2393733single nucleotide variantNM_001145664.2(RFX8):c.186G>A (p.Met62Ile)not specified [RCV004231532]uncertain significance2101421775101421775Humanname
329384728CV2435185single nucleotide variantNM_001145664.2(RFX8):c.201C>G (p.Asp67Glu)not specified [RCV004252822]uncertain significance2101421760101421760Humanname
329362091CV2448287single nucleotide variantNM_001145664.2(RFX8):c.202G>A (p.Glu68Lys)not specified [RCV004263486]uncertain significance2101421759101421759Humanname
405660574CV3312773single nucleotide variantNM_001145664.2(RFX8):c.132G>T (p.Arg44Ser)not specified [RCV004438901]uncertain significance2101422413101422413Humanname
407459981CV3472671single nucleotide variantNM_001145664.2(RFX8):c.106G>C (p.Val36Leu)not specified [RCV004658361]uncertain significance2101422439101422439Humanname
597787565CV3589959single nucleotide variantNM_001145664.2(RFX8):c.150G>C (p.Glu50Asp)not specified [RCV004855273]uncertain significance2101422395101422395Humanname
156027393CV2195464single nucleotide variantNM_001145664.2(RFX8):c.632A>G (p.Asn211Ser)not specified [RCV004082692]likely benign2101413001101413001Humanname
156270128CV2240322single nucleotide variantNM_001145664.2(RFX8):c.578T>G (p.Leu193Trp)not specified [RCV004112876]uncertain significance2101413055101413055Humanname
156105199CV2260640single nucleotide variantNM_001145664.2(RFX8):c.862C>A (p.Leu288Met)not specified [RCV004123399]uncertain significance2101406009101406009Humanname
329387293CV2436365single nucleotide variantNM_001145664.2(RFX8):c.934T>C (p.Trp312Arg)not specified [RCV004251761]uncertain significance2101402747101402747Humanname
329382769CV2465365single nucleotide variantNM_001145664.2(RFX8):c.638G>C (p.Gly213Ala)not specified [RCV004281147]likely benign2101412995101412995Humanname
401721483CV2673731single nucleotide variantNM_001145664.2(RFX8):c.635A>T (p.Gln212Leu)not specified [RCV004282456]uncertain significance2101412998101412998Humanname
401769652CV2689873single nucleotide variantNM_001145664.2(RFX8):c.685G>A (p.Ala229Thr)not specified [RCV004297770]uncertain significance2101412948101412948Humanname
401742167CV2722157single nucleotide variantNM_001145664.2(RFX8):c.938A>G (p.His313Arg)not specified [RCV004328410]uncertain significance2101402743101402743Humanname
405268892CV3187158single nucleotide variantNM_001145664.2(RFX8):c.466G>A (p.Gly156Ser)not provided [RCV003887242]|not specified [RCV004369712]uncertain significance2101417570101417570Humanname
405660582CV3312776single nucleotide variantNM_001145664.2(RFX8):c.537G>C (p.Lys179Asn)not specified [RCV004438904]uncertain significance2101414878101414878Humanname
405660584CV3312777single nucleotide variantNM_001145664.2(RFX8):c.640A>T (p.Thr214Ser)not specified [RCV004438905]uncertain significance2101412993101412993Humanname
405660586CV3312778single nucleotide variantNM_001145664.2(RFX8):c.676C>T (p.Arg226Trp)not specified [RCV004438906]uncertain significance2101412957101412957Humanname
405660589CV3312779single nucleotide variantNM_001145664.2(RFX8):c.875T>G (p.Leu292Arg)not specified [RCV004438907]uncertain significance2101405996101405996Humanname
597765921CV3589958single nucleotide variantNM_001145664.2(RFX8):c.754A>G (p.Thr252Ala)not specified [RCV004850158]uncertain significance2101410678101410678Humanname
597787569CV3589960single nucleotide variantNM_001145664.2(RFX8):c.593G>A (p.Arg198His)not specified [RCV004855274]uncertain significance2101413040101413040Humanname
597787576CV3589961single nucleotide variantNM_001145664.2(RFX8):c.665T>G (p.Leu222Arg)not specified [RCV004855275]uncertain significance2101412968101412968Humanname
597765925CV3589962single nucleotide variantNM_001145664.2(RFX8):c.999G>T (p.Glu333Asp)not specified [RCV004850159]uncertain significance2101402682101402682Humanname
597765930CV3589963single nucleotide variantNM_001145664.2(RFX8):c.901A>G (p.Met301Val)not specified [RCV004850160]uncertain significance2101405970101405970Humanname
597787584CV3589965single nucleotide variantNM_001145664.2(RFX8):c.635A>C (p.Gln212Pro)not specified [RCV004855277]uncertain significance2101412998101412998Humanname
598217507CV3905845single nucleotide variantNM_001145664.2(RFX8):c.606G>C (p.Leu202Phe)not specified [RCV005272018]uncertain significance2101413027101413027Humanname
598217527CV3905848single nucleotide variantNM_001145664.2(RFX8):c.991C>G (p.Leu331Val)not specified [RCV005272021]uncertain significance2101402690101402690Humanname
598217550CV3905851single nucleotide variantNM_001145664.2(RFX8):c.565A>G (p.Met189Val)not specified [RCV005272024]uncertain significance2101413068101413068Humanname
15174594CV696935single nucleotide variantNM_001145664.2(RFX8):c.481T>G (p.Leu161Val)not provided [RCV000950380]likely benign2101417555101417555Humanname
15158091CV707628single nucleotide variantNM_001145664.2(RFX8):c.305C>T (p.Pro102Leu)not provided [RCV000969439]benign2101418897101418897Humanname
8629753CV84900single nucleotide variantNM_001145664.1(RFX8):c.969G>A (p.Met323Ile)Malignant melanoma [RCV000064982]not provided2101402712101402712Humanname
156191610CV2223116single nucleotide variantNM_001145664.2(RFX8):c.1291A>C (p.Lys431Gln)not specified [RCV004103965]uncertain significance2101397679101397679Humanname
156195738CV2223454single nucleotide variantNM_001145664.2(RFX8):c.1283G>A (p.Ser428Asn)not specified [RCV004106031]uncertain significance2101397687101397687Humanname
156082449CV2249130single nucleotide variantNM_001145664.2(RFX8):c.1048G>T (p.Asp350Tyr)not specified [RCV004118184]uncertain significance2101402633101402633Humanname
156046557CV2319103single nucleotide variantNM_001145664.2(RFX8):c.1073A>G (p.Gln358Arg)not specified [RCV004178180]uncertain significance2101402608101402608Humanname
156344744CV2346202single nucleotide variantNM_001145664.2(RFX8):c.1180G>T (p.Val394Leu)not specified [RCV004201655]uncertain significance2101402501101402501Humanname
405660564CV3312770single nucleotide variantNM_001145664.2(RFX8):c.1180G>A (p.Val394Met)not specified [RCV004438898]uncertain significance2101402501101402501Humanname
405660571CV3312772single nucleotide variantNM_001145664.2(RFX8):c.1303C>G (p.Pro435Ala)not specified [RCV004438900]uncertain significance2101397667101397667Humanname
405660577CV3312774single nucleotide variantNM_001145664.2(RFX8):c.1354A>C (p.Ile452Leu)not specified [RCV004438902]uncertain significance2101397616101397616Humanname
598217500CV3905844single nucleotide variantNM_001145664.2(RFX8):c.1052C>T (p.Pro351Leu)not specified [RCV005272017]uncertain significance2101402629101402629Humanname
598217522CV3905847single nucleotide variantNM_001145664.2(RFX8):c.1417G>A (p.Val473Met)not specified [RCV005272020]likely benign2101397553101397553Humanname
598217543CV3905850single nucleotide variantNM_001145664.2(RFX8):c.1106C>T (p.Ser369Leu)not specified [RCV005272023]uncertain significance2101402575101402575Humanname