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


52 records found for search term Ehd2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155911172CV2303764single nucleotide variantNM_014601.4(EHD2):c.88C>T (p.Arg30Cys)not specified [RCV004163614]uncertain significance194771670047716700Humanname
156083880CV2330781single nucleotide variantNM_014601.4(EHD2):c.43C>T (p.Pro15Ser)not specified [RCV004185841]uncertain significance194771665547716655Humanname
401743503CV2715497single nucleotide variantNM_014601.4(EHD2):c.31C>T (p.Arg11Trp)not specified [RCV004326591]uncertain significance194771664347716643Humanname
405717740CV3241864single nucleotide variantNM_014601.4(EHD2):c.59C>T (p.Thr20Met)not specified [RCV004377601]uncertain significance194771667147716671Humanname
597663450CV3674284single nucleotide variantNM_014601.4(EHD2):c.68C>T (p.Ser23Leu)not specified [RCV004912204]uncertain significance194771668047716680Humanname
598178381CV3961229single nucleotide variantNM_014601.4(EHD2):c.345C>T (p.Val115=)not specified [RCV005332331]likely benign194771695747716957Humanname
401744233CV2696962single nucleotide variantNM_014601.4(EHD2):c.122G>A (p.Arg41His)not specified [RCV004292955]uncertain significance194771673447716734Humanname
405717723CV3241862single nucleotide variantNM_014601.4(EHD2):c.173A>C (p.Lys58Thr)not specified [RCV004377599]uncertain significance194771678547716785Humanname
597663403CV3674277single nucleotide variantNM_014601.4(EHD2):c.262G>A (p.Val88Met)not specified [RCV004912198]uncertain significance194771687447716874Humanname
8628362CV83506single nucleotide variantNM_014601.3(EHD2):c.1011C>T (p.Val337=)Malignant melanoma [RCV000063587]not provided194773646447736464Humanname
155984386CV2241113single nucleotide variantNM_014601.4(EHD2):c.368G>A (p.Arg123His)not specified [RCV004104146]uncertain significance194771698047716980Humanname
155976084CV2324583single nucleotide variantNM_014601.4(EHD2):c.385G>A (p.Gly129Arg)not specified [RCV004179343]uncertain significance194771699747716997Humanname
156110107CV2387593single nucleotide variantNM_014601.4(EHD2):c.470T>C (p.Ile157Thr)not specified [RCV004234144]uncertain significance194771857447718574Humanname
156150968CV2394693single nucleotide variantNM_014601.4(EHD2):c.938A>G (p.Tyr313Cys)not specified [RCV004234374]uncertain significance194773639147736391Humanname
401772248CV2708223single nucleotide variantNM_014601.4(EHD2):c.625G>A (p.Gly209Ser)not specified [RCV004311575]uncertain significance194772593447725934Humanname
405717732CV3241863single nucleotide variantNM_014601.4(EHD2):c.298G>A (p.Val100Ile)not specified [RCV004377600]uncertain significance194771691047716910Humanname
405717747CV3241865single nucleotide variantNM_014601.4(EHD2):c.947A>G (p.Lys316Arg)not specified [RCV004377602]uncertain significance194773640047736400Humanname
405717755CV3241866single nucleotide variantNM_014601.4(EHD2):c.985A>C (p.Lys329Gln)not specified [RCV004377603]uncertain significance194773643847736438Humanname
407498563CV3438007single nucleotide variantNM_014601.4(EHD2):c.922G>A (p.Ala308Thr)not specified [RCV004622494]uncertain significance194773637547736375Humanname
407498572CV3438010single nucleotide variantNM_014601.4(EHD2):c.427A>G (p.Asn143Asp)not specified [RCV004622497]uncertain significance194771853147718531Humanname
407498575CV3438011single nucleotide variantNM_014601.4(EHD2):c.826C>G (p.Gln276Glu)not specified [RCV004622498]uncertain significance194772613547726135Humanname
407498577CV3438012single nucleotide variantNM_014601.4(EHD2):c.944A>G (p.Lys315Arg)not specified [RCV004622499]uncertain significance194773639747736397Humanname
597746469CV3674278single nucleotide variantNM_014601.4(EHD2):c.613G>C (p.Gly205Arg)not specified [RCV004922701]uncertain significance194772592247725922Humanname
597663416CV3674280single nucleotide variantNM_014601.4(EHD2):c.469A>G (p.Ile157Val)not specified [RCV004912200]uncertain significance194771857347718573Humanname
597663425CV3674281single nucleotide variantNM_014601.4(EHD2):c.728T>C (p.Val243Ala)not specified [RCV004912201]uncertain significance194772603747726037Humanname
597663433CV3674282single nucleotide variantNM_014601.4(EHD2):c.709A>T (p.Met237Leu)not specified [RCV004912202]uncertain significance194772601847726018Humanname
598178337CV3961223single nucleotide variantNM_014601.4(EHD2):c.817C>G (p.Leu273Val)not specified [RCV005332325]uncertain significance194772612647726126Humanname
598178344CV3961224single nucleotide variantNM_014601.4(EHD2):c.353C>T (p.Pro118Leu)not specified [RCV005332326]uncertain significance194771696547716965Humanname
598178367CV3961227single nucleotide variantNM_014601.4(EHD2):c.500G>A (p.Arg167His)not specified [RCV005332329]uncertain significance194771860447718604Humanname
156225284CV2203035single nucleotide variantNM_014601.4(EHD2):c.1177C>T (p.Leu393Phe)not specified [RCV004069287]uncertain significance194774097747740977Humanname
156212249CV2259939single nucleotide variantNM_014601.4(EHD2):c.1571C>A (p.Ala524Asp)not specified [RCV004118964]uncertain significance194774137147741371Humanname
156279875CV2325376single nucleotide variantNM_014601.4(EHD2):c.1171G>C (p.Ala391Pro)not specified [RCV004177748]uncertain significance194774097147740971Humanname
156167223CV2345275single nucleotide variantNM_014601.4(EHD2):c.1390G>A (p.Asp464Asn)not specified [RCV004196010]uncertain significance194774119047741190Humanname
156190510CV2356746single nucleotide variantNM_014601.4(EHD2):c.1382C>T (p.Ala461Val)not specified [RCV004202090]uncertain significance194774118247741182Humanname
156336368CV2360725single nucleotide variantNM_014601.4(EHD2):c.1070A>C (p.Gln357Pro)not specified [RCV004213512]uncertain significance194773652347736523Humanname
329355048CV2449240single nucleotide variantNM_014601.4(EHD2):c.1325C>A (p.Ala442Asp)not specified [RCV004257379]uncertain significance194774112547741125Humanname
401735616CV2672698single nucleotide variantNM_014601.4(EHD2):c.1258G>C (p.Gly420Arg)not specified [RCV004287711]uncertain significance194774105847741058Humanname
401733740CV2682627single nucleotide variantNM_014601.4(EHD2):c.1274G>A (p.Arg425Gln)not specified [RCV004292675]uncertain significance194774107447741074Humanname
401731002CV2686830single nucleotide variantNM_014601.4(EHD2):c.1151A>G (p.Glu384Gly)not specified [RCV004302010]uncertain significance194774095147740951Humanname
401730489CV2711349single nucleotide variantNM_014601.4(EHD2):c.1019C>A (p.Ala340Glu)not specified [RCV004313112]uncertain significance194773647247736472Humanname
401892854CV2758124single nucleotide variantNM_014601.4(EHD2):c.1094C>T (p.Ala365Val)not specified [RCV004341504]uncertain significance194774089447740894Humanname
407498566CV3438008single nucleotide variantNM_014601.4(EHD2):c.1046C>A (p.Ser349Tyr)not specified [RCV004622495]uncertain significance194773649947736499Humanname
407498580CV3438013single nucleotide variantNM_014601.4(EHD2):c.1553A>G (p.Glu518Gly)not specified [RCV004622500]uncertain significance194774135347741353Humanname
597663387CV3674275single nucleotide variantNM_014601.4(EHD2):c.1413G>T (p.Lys471Asn)not specified [RCV004912196]uncertain significance194774121347741213Humanname
597663396CV3674276single nucleotide variantNM_014601.4(EHD2):c.1237G>A (p.Ala413Thr)not specified [RCV004912197]uncertain significance194774103747741037Humanname
597663412CV3674279single nucleotide variantNM_014601.4(EHD2):c.1256T>C (p.Met419Thr)not specified [RCV004912199]uncertain significance194774105647741056Humanname
597663442CV3674283single nucleotide variantNM_014601.4(EHD2):c.1157T>G (p.Leu386Arg)not specified [RCV004912203]uncertain significance194774095747740957Humanname
597663457CV3674285single nucleotide variantNM_014601.4(EHD2):c.1262C>T (p.Pro421Leu)not specified [RCV004912205]uncertain significance194774106247741062Humanname
597746474CV3674286single nucleotide variantNM_014601.4(EHD2):c.1009G>A (p.Val337Ile)not specified [RCV004922702]uncertain significance194773646247736462Humanname
598178352CV3961225single nucleotide variantNM_014601.4(EHD2):c.1523T>C (p.Leu508Pro)not specified [RCV005332327]uncertain significance194774132347741323Humanname
598178359CV3961226single nucleotide variantNM_014601.4(EHD2):c.1300G>A (p.Gly434Ser)not specified [RCV005332328]uncertain significance194774110047741100Humanname
598178374CV3961228single nucleotide variantNM_014601.4(EHD2):c.1583G>C (p.Arg528Pro)not specified [RCV005332330]uncertain significance194774138347741383Humanname