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


213 records found for search term Eif4e
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405275065CV3199992single nucleotide variantNM_001968.5(EIF4E):c.18+10G>TEIF4E-related disorder [RCV003974003]likely benign49892908598929085Humanname , trait , alternate_id
15164200CV777409deletionNM_001968.5(EIF4E):c.540-8delnot provided [RCV000948279]benign49888115098881150Humanname
15121958CV779043duplicationNM_001968.5(EIF4E):c.540-8dupnot provided [RCV000962989]benign49888114998881150Humanname
405288419CV3197430single nucleotide variantNM_001968.5(EIF4E):c.18+120T>CEIF4E-related disorder [RCV003982526]benign49892897598928975Humanname , trait , alternate_id
15111733CV721125single nucleotide variantNM_001968.5(EIF4E):c.399+548A>Gnot provided [RCV000894324]likely benign49888653198886531Humanname
329387924CV2468485single nucleotide variantNM_001968.5(EIF4E):c.13G>A (p.Glu5Lys)not specified [RCV004278068]uncertain significance49892910098929100Humanname
156047076CV2268726single nucleotide variantNM_001968.5(EIF4E):c.85G>A (p.Ala29Thr)not specified [RCV004124124]uncertain significance49890191698901916Humanname
405284317CV3196718single nucleotide variantNM_001968.5(EIF4E):c.375C>T (p.Asp125=)EIF4E-related disorder [RCV003979614]benign49888710398887103Humanname , trait , alternate_id
405719474CV3238631single nucleotide variantNM_001968.5(EIF4E):c.98A>G (p.His33Arg)not specified [RCV004377826]uncertain significance49890190398901903Humanname
155970338CV2309176single nucleotide variantNM_001968.5(EIF4E):c.187A>G (p.Ile63Val)not specified [RCV004171526]uncertain significance49889127198891271Humanname
401727785CV2678447single nucleotide variantNM_001968.5(EIF4E):c.326G>T (p.Arg109Leu)not specified [RCV004292467]uncertain significance49888715298887152Humanname
401750859CV2715787single nucleotide variantNM_001968.5(EIF4E):c.502A>T (p.Thr168Ser)not specified [RCV004328922]uncertain significance49888495998884959Humanname
401883630CV2785718single nucleotide variantNM_001968.5(EIF4E):c.581T>C (p.Val194Ala)not specified [RCV004364975]uncertain significance49888110198881101Humanname
407499029CV3438164single nucleotide variantNM_001968.5(EIF4E):c.542G>T (p.Arg181Met)not specified [RCV004622652]uncertain significance49888114098881140Humanname
598179421CV3961407single nucleotide variantNM_001968.5(EIF4E):c.577A>G (p.Ile193Val)not specified [RCV005332509]uncertain significance49888110598881105Humanname
150335507CV1166386single nucleotide variantNM_019843.4(EIF4ENIF1):c.2207-4A>Tnot provided [RCV001531545]uncertain significance223144212231442122Humanname
405719491CV3238633single nucleotide variantNM_004846.4(EIF4E2):c.19G>A (p.Ala7Thr)not specified [RCV004377828]uncertain significance2232550743232550743Humanname
15189732CV724042single nucleotide variantNM_004096.5(EIF4EBP2):c.21C>T (p.Ser7=)not provided [RCV000887903]benign107040442270404422Humanname
155931699CV2293662single nucleotide variantNM_004096.5(EIF4EBP2):c.5C>T (p.Ser2Phe)not specified [RCV004153166]uncertain significance107040440670404406Humanname
401881848CV2774633single nucleotide variantNM_004846.4(EIF4E2):c.98C>T (p.Thr33Met)not specified [RCV004350101]uncertain significance2232556493232556493Humanname
156233149CV2346173single nucleotide variantNM_004846.4(EIF4E2):c.152C>T (p.Pro51Leu)not specified [RCV004201631]uncertain significance2232557900232557900Humanname
405096177CV3022875single nucleotide variantNM_004095.4(EIF4EBP1):c.237G>A (p.Pro79=)not provided [RCV003700019]likely benign83805717238057172Humanname
405719484CV3238632single nucleotide variantNM_004846.4(EIF4E2):c.163C>T (p.Pro55Ser)not specified [RCV004377827]uncertain significance2232557911232557911Humanname
405719496CV3238634single nucleotide variantNM_004846.4(EIF4E2):c.208G>A (p.Gly70Ser)not specified [RCV004377829]uncertain significance2232557956232557956Humanname
405719508CV3238635single nucleotide variantNM_004846.4(EIF4E2):c.295A>G (p.Ser99Gly)not specified [RCV004377830]uncertain significance2232564271232564271Humanname
15190325CV700583single nucleotide variantNM_004095.4(EIF4EBP1):c.285G>A (p.Gln95=)not provided [RCV000954441]benign83805722038057220Humanname
15097741CV701423single nucleotide variantNM_004096.5(EIF4EBP2):c.17G>A (p.Gly6Asp)not provided [RCV000958383]likely benign107040441870404418Humanname
150335510CV1166387single nucleotide variantNM_019843.4(EIF4ENIF1):c.22G>T (p.Glu8Ter)not provided [RCV001531546]uncertain significance223148869731488697Humanname
156278584CV2227574single nucleotide variantNM_004846.4(EIF4E2):c.376G>A (p.Asp126Asn)not specified [RCV004092215]uncertain significance2232566829232566829Humanname
156294392CV2233638single nucleotide variantNM_004846.4(EIF4E2):c.304G>A (p.Val102Ile)not specified [RCV004100095]uncertain significance2232564280232564280Humanname
156167405CV2237232single nucleotide variantNM_004846.4(EIF4E2):c.691A>G (p.Arg231Gly)not specified [RCV004114965]uncertain significance2232568970232568970Humanname
155983908CV2273128single nucleotide variantNM_004096.5(EIF4EBP2):c.95A>C (p.His32Pro)not specified [RCV004137767]uncertain significance107040449670404496Humanname
156075372CV2291407single nucleotide variantNM_004846.4(EIF4E2):c.575C>T (p.Thr192Ile)not specified [RCV004155746]uncertain significance2232567124232567124Humanname
156347434CV2315292single nucleotide variantNM_004846.4(EIF4E2):c.308G>A (p.Arg103His)not specified [RCV004167277]uncertain significance2232564284232564284Humanname
156273865CV2319882single nucleotide variantNM_001134651.2(EIF4E3):c.13C>T (p.Pro5Ser)not specified [RCV004167764]uncertain significance37172535571725355Humanname
156037085CV2374037single nucleotide variantNM_003732.3(EIF4EBP3):c.64A>C (p.Thr22Pro)not specified [RCV004227162]uncertain significance5140547801140547801Humanname
329360220CV2446648single nucleotide variantNM_004846.4(EIF4E2):c.721C>T (p.Arg241Trp)not specified [RCV004251536]uncertain significance2232569000232569000Humanname
401742559CV2677620single nucleotide variantNM_001134651.2(EIF4E3):c.17C>T (p.Ala6Val)not specified [RCV004291715]uncertain significance37172535171725351Humanname
401874258CV2759142single nucleotide variantNM_004095.4(EIF4EBP1):c.61G>A (p.Val21Met)not specified [RCV004342440]uncertain significance83803063438030634Humanname
401886158CV2774850single nucleotide variantNM_004846.4(EIF4E2):c.610C>T (p.Leu204Phe)not specified [RCV004343935]uncertain significance2232567159232567159Humanname
405719522CV3238637single nucleotide variantNM_004846.4(EIF4E2):c.590G>A (p.Arg197Gln)not specified [RCV004377832]uncertain significance2232567139232567139Humanname
405719531CV3238638single nucleotide variantNM_004846.4(EIF4E2):c.719C>G (p.Pro240Arg)not specified [RCV004377833]uncertain significance2232568998232568998Humanname
405719576CV3238644single nucleotide variantNM_004095.4(EIF4EBP1):c.37C>T (p.Arg13Trp)not specified [RCV004377839]uncertain significance83803061038030610Humanname
405719591CV3238646single nucleotide variantNM_004096.5(EIF4EBP2):c.67G>A (p.Ala23Thr)not specified [RCV004377841]uncertain significance107040446870404468Humanname
598179435CV3961410single nucleotide variantNM_004846.4(EIF4E2):c.722G>A (p.Arg241Gln)not specified [RCV005332512]uncertain significance2232569001232569001Humanname
598179450CV3961413single nucleotide variantNM_001134651.2(EIF4E3):c.11C>T (p.Pro4Leu)not specified [RCV005332515]uncertain significance37172535771725357Humanname
155958264CV1936385single nucleotide variantNM_019843.4(EIF4ENIF1):c.97G>A (p.Glu33Lys)not provided [RCV002512197]likely benign223147191731471917Humanname
156258309CV2219967single nucleotide variantNM_004096.5(EIF4EBP2):c.212C>T (p.Pro71Leu)not specified [RCV004095580]uncertain significance107041998070419980Humanname
156387673CV2221575single nucleotide variantNM_003732.3(EIF4EBP3):c.197G>A (p.Gly66Glu)not specified [RCV004096836]uncertain significance5140548999140548999Humanname
155977936CV2226495single nucleotide variantNM_003732.3(EIF4EBP3):c.125G>A (p.Arg42Gln)not specified [RCV004099695]uncertain significance5140548927140548927Humanname
155980104CV2343407single nucleotide variantNM_003732.3(EIF4EBP3):c.251A>T (p.Gln84Leu)not specified [RCV004197487]uncertain significance5140549053140549053Humanname
329377129CV2451745single nucleotide variantNM_003732.3(EIF4EBP3):c.224T>C (p.Leu75Pro)not specified [RCV004276438]likely benign5140549026140549026Humanname
329396864CV2459030single nucleotide variantNM_004095.4(EIF4EBP1):c.289C>T (p.His97Tyr)not specified [RCV004272506]uncertain significance83805722438057224Humanname
401742486CV2673795single nucleotide variantNM_001134651.2(EIF4E3):c.29C>G (p.Pro10Arg)not specified [RCV004293179]uncertain significance37172533971725339Humanname
401782627CV2697128single nucleotide variantNM_004096.5(EIF4EBP2):c.284T>G (p.Val95Gly)not specified [RCV004302124]uncertain significance107042005270420052Humanname
401882735CV2778480single nucleotide variantNM_001134651.2(EIF4E3):c.74C>T (p.Ala25Val)not specified [RCV004344143]uncertain significance37172529471725294Humanname
405867538CV2842301single nucleotide variantNM_003732.3(EIF4EBP3):c.117C>G (p.Ile39Met)EBV-positive nodal T- and NK-cell lymphoma [RCV004560250]likely benign5140548919140548919Humanname
405719572CV3238643single nucleotide variantNM_004095.4(EIF4EBP1):c.248G>A (p.Ser83Asn)not specified [RCV004377838]uncertain significance83805718338057183Humanname
405719584CV3238645single nucleotide variantNM_004096.5(EIF4EBP2):c.161A>T (p.Tyr54Phe)not specified [RCV004377840]uncertain significance107041992970419929Humanname
407499042CV3438167single nucleotide variantNM_001099408.2(EIF4E1B):c.16G>T (p.Val6Leu)not specified [RCV004622655]uncertain significance5176643082176643082Humanname
407499050CV3438169single nucleotide variantNM_001134651.2(EIF4E3):c.41G>T (p.Arg14Leu)not specified [RCV004622657]uncertain significance37172532771725327Humanname
407499058CV3438171single nucleotide variantNM_001134651.2(EIF4E3):c.64G>A (p.Ala22Thr)not specified [RCV004622659]uncertain significance37172530471725304Humanname
407479014CV3438173single nucleotide variantNM_003732.3(EIF4EBP3):c.280G>A (p.Ala94Thr)not specified [RCV004622661]uncertain significance5140549239140549239Humanname
597664544CV3670631single nucleotide variantNM_004096.5(EIF4EBP2):c.209C>A (p.Thr70Asn)not specified [RCV004912338]uncertain significance107041997770419977Humanname
597746682CV3670632single nucleotide variantNM_003732.3(EIF4EBP3):c.125G>T (p.Arg42Leu)not specified [RCV004922744]uncertain significance5140548927140548927Humanname
598179455CV3961414single nucleotide variantNM_001134651.2(EIF4E3):c.53G>C (p.Gly18Ala)not specified [RCV005332516]uncertain significance37172531571725315Humanname
598179465CV3961416single nucleotide variantNM_001134651.2(EIF4E3):c.89C>A (p.Pro30Gln)not specified [RCV005332518]uncertain significance37172527971725279Humanname
598179475CV3961418single nucleotide variantNM_004096.5(EIF4EBP2):c.293T>G (p.Leu98Trp)not specified [RCV005332520]uncertain significance107042006170420061Humanname
598179478CV3961419single nucleotide variantNM_004096.5(EIF4EBP2):c.134C>A (p.Thr45Asn)not specified [RCV005332521]uncertain significance107040453570404535Humanname
155913467CV2245855single nucleotide variantNM_019843.4(EIF4ENIF1):c.256G>C (p.Glu86Gln)not specified [RCV004111700]uncertain significance223146821731468217Humanname
156301120CV2307036single nucleotide variantNM_019843.4(EIF4ENIF1):c.272G>A (p.Arg91Gln)not specified [RCV004159534]uncertain significance223146820131468201Humanname
155913879CV2341877single nucleotide variantNM_001134651.2(EIF4E3):c.152C>G (p.Ser51Trp)not specified [RCV004184826]uncertain significance37172521671725216Humanname
155980560CV2343554single nucleotide variantNM_019843.4(EIF4ENIF1):c.121C>A (p.Leu41Ile)not specified [RCV004190588]uncertain significance223147189331471893Humanname
156281836CV2348808single nucleotide variantNM_004096.5(EIF4EBP2):c.308A>G (p.Asn103Ser)not specified [RCV004203254]uncertain significance107042007670420076Humanname
156049845CV2367396single nucleotide variantNM_001099408.2(EIF4E1B):c.55G>A (p.Glu19Lys)not specified [RCV004209298]likely benign5176643121176643121Humanname
405719997CV3238639single nucleotide variantNM_001134651.2(EIF4E3):c.118C>G (p.Leu40Val)not specified [RCV004377834]uncertain significance37172525071725250Humanname
405719546CV3238640single nucleotide variantNM_001134651.2(EIF4E3):c.124C>T (p.Pro42Ser)not specified [RCV004377835]uncertain significance37172524471725244Humanname
597746677CV3670630single nucleotide variantNM_004096.5(EIF4EBP2):c.306C>A (p.Asn102Lys)not specified [RCV004922743]uncertain significance107042007470420074Humanname
598179426CV3961408single nucleotide variantNM_001099408.2(EIF4E1B):c.489C>T (p.Ile163=)not specified [RCV005332510]likely benign5176645391176645391Humanname
15104262CV705888single nucleotide variantNM_019843.4(EIF4ENIF1):c.1404C>T (p.Ala468=)not provided [RCV000959650]benign223145425231454252Humanname
15138712CV786582single nucleotide variantNM_019843.4(EIF4ENIF1):c.2949C>T (p.Tyr983=)not provided [RCV000982516]likely benign223143988931439889Humanname
156371222CV2204510single nucleotide variantNM_001099408.2(EIF4E1B):c.201G>T (p.Arg67Ser)not specified [RCV004079309]uncertain significance5176643639176643639Humanname
156381128CV2218576single nucleotide variantNM_001134651.2(EIF4E3):c.523G>A (p.Val175Ile)not specified [RCV004090842]uncertain significance37169011571690115Humanname
156347142CV2297840single nucleotide variantNM_019843.4(EIF4ENIF1):c.973G>T (p.Asp325Tyr)not specified [RCV004157784]uncertain significance223145597831455978Humanname
156105545CV2307429single nucleotide variantNM_019843.4(EIF4ENIF1):c.554G>A (p.Arg185Gln)not specified [RCV004166099]uncertain significance223146371231463712Humanname
156163591CV2319643single nucleotide variantNM_019843.4(EIF4ENIF1):c.883G>A (p.Ala295Thr)not specified [RCV004185188]uncertain significance223145855531458555Humanname
156193899CV2350634single nucleotide variantNM_019843.4(EIF4ENIF1):c.550G>A (p.Asp184Asn)not specified [RCV004204974]uncertain significance223146371631463716Humanname
155918573CV2362641single nucleotide variantNM_019843.4(EIF4ENIF1):c.817G>A (p.Glu273Lys)not specified [RCV004215292]uncertain significance223145862131458621Humanname
329361670CV2437808single nucleotide variantNM_001099408.2(EIF4E1B):c.201G>C (p.Arg67Ser)not specified [RCV004261105]uncertain significance5176643639176643639Humanname
401739571CV2684108single nucleotide variantNM_019843.4(EIF4ENIF1):c.764G>A (p.Arg255Gln)not specified [RCV004295697]uncertain significance223146295531462955Humanname
401731146CV2707740single nucleotide variantNM_019843.4(EIF4ENIF1):c.793G>A (p.Val265Ile)not specified [RCV004306991]uncertain significance223145864531458645Humanname
401764670CV2728025single nucleotide variantNM_019843.4(EIF4ENIF1):c.767G>A (p.Arg256Gln)not specified [RCV004324150]uncertain significance223146295231462952Humanname
401877222CV2769379single nucleotide variantNM_001099408.2(EIF4E1B):c.152C>T (p.Thr51Met)not specified [RCV004357368]likely benign5176643218176643218Humanname
401890837CV2772222single nucleotide variantNM_019843.4(EIF4ENIF1):c.763C>G (p.Arg255Gly)not specified [RCV004346862]uncertain significance223146295631462956Humanname
405719561CV3238641single nucleotide variantNM_001134651.2(EIF4E3):c.500G>A (p.Ser167Asn)not specified [RCV004377836]uncertain significance37169013871690138Humanname
405719565CV3238642single nucleotide variantNM_001134651.2(EIF4E3):c.661C>T (p.Arg221Cys)not specified [RCV004377837]uncertain significance37168469671684696Humanname
405736573CV3238660single nucleotide variantNM_019843.4(EIF4ENIF1):c.329T>C (p.Leu110Ser)not specified [RCV004379929]uncertain significance223146393731463937Humanname
405737284CV3238661single nucleotide variantNM_019843.4(EIF4ENIF1):c.403C>A (p.Arg135Ser)not specified [RCV004379930]uncertain significance223146386331463863Humanname
405736588CV3238662single nucleotide variantNM_019843.4(EIF4ENIF1):c.593T>C (p.Phe198Ser)not specified [RCV004379931]uncertain significance223146312631463126Humanname
405736594CV3238663single nucleotide variantNM_019843.4(EIF4ENIF1):c.608G>A (p.Arg203His)not specified [RCV004379932]uncertain significance223146311131463111Humanname
405736600CV3238664single nucleotide variantNM_019843.4(EIF4ENIF1):c.766C>G (p.Arg256Gly)not specified [RCV004379933]uncertain significance223146295331462953Humanname
405736606CV3238665single nucleotide variantNM_019843.4(EIF4ENIF1):c.826G>C (p.Glu276Gln)not specified [RCV004379934]uncertain significance223145861231458612Humanname
407499047CV3438168single nucleotide variantNM_001134651.2(EIF4E3):c.466G>A (p.Ala156Thr)not specified [RCV004622656]uncertain significance37169388171693881Humanname
407499054CV3438170single nucleotide variantNM_001134651.2(EIF4E3):c.354G>C (p.Glu118Asp)not specified [RCV004622658]uncertain significance37169651171696511Humanname
407499062CV3438172single nucleotide variantNM_001134651.2(EIF4E3):c.421G>C (p.Glu141Gln)not specified [RCV004622660]uncertain significance37169392671693926Humanname
407499068CV3438175single nucleotide variantNM_019843.4(EIF4ENIF1):c.404G>A (p.Arg135His)not specified [RCV004622663]uncertain significance223146386231463862Humanname
407499083CV3438179single nucleotide variantNM_019843.4(EIF4ENIF1):c.622C>T (p.Arg208Cys)not specified [RCV004622667]uncertain significance223146309731463097Humanname
597665207CV3670624single nucleotide variantNM_001099408.2(EIF4E1B):c.102G>T (p.Lys34Asn)not specified [RCV004912334]uncertain significance5176643168176643168Humanname
597664518CV3670626single nucleotide variantNM_001099408.2(EIF4E1B):c.158G>T (p.Gly53Val)not specified [RCV004912335]uncertain significance5176643224176643224Humanname
597664525CV3670627single nucleotide variantNM_001099408.2(EIF4E1B):c.188C>T (p.Pro63Leu)not specified [RCV004912336]uncertain significance5176643254176643254Humanname
597746672CV3670629single nucleotide variantNM_001099408.2(EIF4E1B):c.131C>T (p.Ser44Phe)not specified [RCV004922742]uncertain significance5176643197176643197Humanname
597664554CV3670634single nucleotide variantNM_019843.4(EIF4ENIF1):c.607C>T (p.Arg203Cys)not specified [RCV004912339]uncertain significance223146311231463112Humanname
597664639CV3670646single nucleotide variantNM_019843.4(EIF4ENIF1):c.460A>G (p.Arg154Gly)not specified [RCV004912349]uncertain significance223146380631463806Humanname
598179440CV3961411single nucleotide variantNM_001134651.2(EIF4E3):c.505C>T (p.Arg169Trp)not specified [RCV005332513]uncertain significance37169013371690133Humanname
598179460CV3961415single nucleotide variantNM_001134651.2(EIF4E3):c.601A>G (p.Ile201Val)not specified [RCV005332517]uncertain significance37169003771690037Humanname
598179470CV3961417single nucleotide variantNM_001134651.2(EIF4E3):c.499A>G (p.Ser167Gly)not specified [RCV005332519]uncertain significance37169013971690139Humanname
598179512CV3961425single nucleotide variantNM_019843.4(EIF4ENIF1):c.443G>A (p.Arg148His)not specified [RCV005332527]uncertain significance223146382331463823Humanname
598179519CV3961426single nucleotide variantNM_019843.4(EIF4ENIF1):c.601A>G (p.Ser201Gly)not specified [RCV005332528]uncertain significance223146311831463118Humanname
150529200CV1288753single nucleotide variantNM_019843.4(EIF4ENIF1):c.2525A>C (p.Gln842Pro)not provided [RCV001727221]uncertain significance223144180031441800Humanname
156276366CV2209772single nucleotide variantNM_019843.4(EIF4ENIF1):c.1415A>G (p.Asn472Ser)not specified [RCV004083086]uncertain significance223145424131454241Humanname
156135430CV2213384single nucleotide variantNM_001099408.2(EIF4E1B):c.490G>C (p.Gly164Arg)not specified [RCV004087369]uncertain significance5176645392176645392Humanname
156334985CV2214849single nucleotide variantNM_019843.4(EIF4ENIF1):c.2242G>A (p.Asp748Asn)not specified [RCV004090641]uncertain significance223144208331442083Humanname
156385017CV2231250single nucleotide variantNM_019843.4(EIF4ENIF1):c.1471A>G (p.Met491Val)not specified [RCV004094447]uncertain significance223145418531454185Humanname
155968375CV2234281single nucleotide variantNM_001099408.2(EIF4E1B):c.457C>T (p.Arg153Trp)not specified [RCV004106351]uncertain significance5176645226176645226Humanname
156134630CV2235564single nucleotide variantNM_001099408.2(EIF4E1B):c.473C>T (p.Thr158Met)not specified [RCV004109594]uncertain significance5176645242176645242Humanname
156069578CV2237137single nucleotide variantNM_019843.4(EIF4ENIF1):c.2306C>T (p.Thr769Ile)not specified [RCV004114887]uncertain significance223144201931442019Humanname
156172304CV2267867single nucleotide variantNM_019843.4(EIF4ENIF1):c.2795C>T (p.Ser932Leu)not specified [RCV004136163]uncertain significance223144004331440043Humanname
156364798CV2271996single nucleotide variantNM_019843.4(EIF4ENIF1):c.1803T>G (p.Asp601Glu)not specified [RCV004124805]uncertain significance223144819831448198Humanname
155964474CV2282848single nucleotide variantNM_001099408.2(EIF4E1B):c.646C>T (p.Pro216Ser)not specified [RCV004143505]uncertain significance5176645897176645897Humanname
155926078CV2287822single nucleotide variantNM_001099408.2(EIF4E1B):c.677C>T (p.Ala226Val)not specified [RCV004143264]uncertain significance5176645928176645928Humanname
156198431CV2312920single nucleotide variantNM_001099408.2(EIF4E1B):c.514A>G (p.Arg172Gly)not specified [RCV004159432]uncertain significance5176645416176645416Humanname
156049997CV2315899single nucleotide variantNM_001099408.2(EIF4E1B):c.616C>G (p.Arg206Gly)not specified [RCV004171673]uncertain significance5176645867176645867Humanname
156075166CV2331720single nucleotide variantNM_019843.4(EIF4ENIF1):c.2668G>A (p.Gly890Arg)not specified [RCV004184347]uncertain significance223144075231440752Humanname
155916938CV2336237single nucleotide variantNM_019843.4(EIF4ENIF1):c.2564C>T (p.Pro855Leu)not specified [RCV004191992]uncertain significance223144085631440856Humanname
156330376CV2339464single nucleotide variantNM_001099408.2(EIF4E1B):c.482G>A (p.Cys161Tyr)not specified [RCV004194134]uncertain significance5176645384176645384Humanname
156184905CV2346466single nucleotide variantNM_019843.4(EIF4ENIF1):c.1853G>A (p.Ser618Asn)not specified [RCV004206391]uncertain significance223144756131447561Humanname
155928038CV2349938single nucleotide variantNM_019843.4(EIF4ENIF1):c.2194A>G (p.Lys732Glu)not specified [RCV004206350]uncertain significance223144297431442974Humanname
156223545CV2355586single nucleotide variantNM_019843.4(EIF4ENIF1):c.1642A>G (p.Met548Val)not specified [RCV004205430]uncertain significance223144947431449474Humanname
155902670CV2356506single nucleotide variantNM_001099408.2(EIF4E1B):c.509A>C (p.His170Pro)not specified [RCV004199422]uncertain significance5176645411176645411Humanname
155988540CV2363997single nucleotide variantNM_019843.4(EIF4ENIF1):c.1511G>A (p.Ser504Asn)not specified [RCV004218963]uncertain significance223145414531454145Humanname
156385028CV2371674single nucleotide variantNM_019843.4(EIF4ENIF1):c.1721G>T (p.Arg574Leu)not specified [RCV004216912]uncertain significance223144939531449395Humanname
156044594CV2381645single nucleotide variantNM_019843.4(EIF4ENIF1):c.2030G>A (p.Gly677Glu)not specified [RCV004232116]uncertain significance223144464931444649Humanname
155929151CV2389080single nucleotide variantNM_001099408.2(EIF4E1B):c.584C>T (p.Ala195Val)not specified [RCV004235418]uncertain significance5176645486176645486Humanname
329357289CV2453527single nucleotide variantNM_019843.4(EIF4ENIF1):c.1258A>G (p.Lys420Glu)not specified [RCV004269212]uncertain significance223145515731455157Humanname
401773381CV2698193single nucleotide variantNM_019843.4(EIF4ENIF1):c.1499A>T (p.Gln500Leu)not specified [RCV004304761]uncertain significance223145415731454157Humanname
401770687CV2707348single nucleotide variantNM_019843.4(EIF4ENIF1):c.2159A>T (p.Lys720Ile)not specified [RCV004312746]uncertain significance223144300931443009Humanname
401757671CV2707907single nucleotide variantNM_019843.4(EIF4ENIF1):c.1877C>G (p.Ala626Gly)not specified [RCV004309173]uncertain significance223144753731447537Humanname
401753954CV2716944single nucleotide variantNM_019843.4(EIF4ENIF1):c.1721G>A (p.Arg574Gln)not specified [RCV004330033]uncertain significance223144939531449395Humanname
401753969CV2719187single nucleotide variantNM_019843.4(EIF4ENIF1):c.1745G>A (p.Arg582His)not specified [RCV004324849]uncertain significance223144937131449371Humanname
401876976CV2764249single nucleotide variantNM_019843.4(EIF4ENIF1):c.2831G>A (p.Arg944His)not specified [RCV004336785]uncertain significance223144000731440007Humanname
401860745CV2776172single nucleotide variantNM_019843.4(EIF4ENIF1):c.2017C>A (p.Pro673Thr)not specified [RCV004353257]uncertain significance223144466231444662Humanname
401869606CV2782423single nucleotide variantNM_001099408.2(EIF4E1B):c.719T>C (p.Phe240Ser)not specified [RCV004365156]uncertain significance5176645970176645970Humanname
401894462CV2788068single nucleotide variantNM_001099408.2(EIF4E1B):c.637G>A (p.Gly213Ser)not specified [RCV004352701]uncertain significance5176645888176645888Humanname
405719598CV3238647single nucleotide variantNM_019843.4(EIF4ENIF1):c.1072C>T (p.Pro358Ser)not specified [RCV004377842]uncertain significance223145587931455879Humanname
405719611CV3238649single nucleotide variantNM_019843.4(EIF4ENIF1):c.1625A>G (p.Asn542Ser)not specified [RCV004377844]uncertain significance223144949131449491Humanname
405719623CV3238650single nucleotide variantNM_019843.4(EIF4ENIF1):c.1634G>C (p.Ser545Thr)not specified [RCV004377845]uncertain significance223144948231449482Humanname
405719633CV3238651single nucleotide variantNM_019843.4(EIF4ENIF1):c.1648A>G (p.Ser550Gly)not specified [RCV004377846]uncertain significance223144946831449468Humanname
405719640CV3238652single nucleotide variantNM_019843.4(EIF4ENIF1):c.1690T>G (p.Ser564Ala)not specified [RCV004377847]uncertain significance223144942631449426Humanname
405719648CV3238653single nucleotide variantNM_019843.4(EIF4ENIF1):c.1774A>T (p.Thr592Ser)not specified [RCV004377848]uncertain significance223144822731448227Humanname
405719659CV3238654single nucleotide variantNM_019843.4(EIF4ENIF1):c.1931A>T (p.Tyr644Phe)not specified [RCV004377849]uncertain significance223144748331447483Humanname
405719665CV3238655single nucleotide variantNM_019843.4(EIF4ENIF1):c.2267A>G (p.Asn756Ser)not specified [RCV004377850]uncertain significance223144205831442058Humanname
405719672CV3238656single nucleotide variantNM_019843.4(EIF4ENIF1):c.2416C>T (p.Arg806Cys)not specified [RCV004377851]uncertain significance223144190931441909Humanname
405719685CV3238657single nucleotide variantNM_019843.4(EIF4ENIF1):c.2417G>A (p.Arg806His)not specified [RCV004377852]uncertain significance223144190831441908Humanname
405736558CV3238658single nucleotide variantNM_019843.4(EIF4ENIF1):c.2648C>T (p.Pro883Leu)not specified [RCV004379927]uncertain significance223144077231440772Humanname
405736567CV3238659single nucleotide variantNM_019843.4(EIF4ENIF1):c.2815T>G (p.Ser939Ala)not specified [RCV004379928]uncertain significance223144002331440023Humanname
407499034CV3438165single nucleotide variantNM_001099408.2(EIF4E1B):c.617G>T (p.Arg206Leu)not specified [RCV004622653]uncertain significance5176645868176645868Humanname
407499038CV3438166single nucleotide variantNM_001099408.2(EIF4E1B):c.659T>C (p.Ile220Thr)not specified [RCV004622654]uncertain significance5176645910176645910Humanname
407499065CV3438174single nucleotide variantNM_019843.4(EIF4ENIF1):c.1244G>A (p.Ser415Asn)not specified [RCV004622662]uncertain significance223145517131455171Humanname
407499073CV3438176single nucleotide variantNM_019843.4(EIF4ENIF1):c.2492T>C (p.Val831Ala)not specified [RCV004622664]uncertain significance223144183331441833Humanname
407499076CV3438177single nucleotide variantNM_019843.4(EIF4ENIF1):c.2200A>G (p.Ser734Gly)not specified [RCV004622665]uncertain significance223144296831442968Humanname
407499080CV3438178single nucleotide variantNM_019843.4(EIF4ENIF1):c.2435C>T (p.Pro812Leu)not specified [RCV004622666]uncertain significance223144189031441890Humanname
407499088CV3438180single nucleotide variantNM_019843.4(EIF4ENIF1):c.1136C>T (p.Ser379Leu)not specified [RCV004622668]uncertain significance223145527931455279Humanname
597746667CV3670625single nucleotide variantNM_001099408.2(EIF4E1B):c.577A>G (p.Arg193Gly)not specified [RCV004922741]uncertain significance5176645479176645479Humanname
597664534CV3670628single nucleotide variantNM_001099408.2(EIF4E1B):c.579G>T (p.Arg193Ser)not specified [RCV004912337]uncertain significance5176645481176645481Humanname
597746686CV3670633single nucleotide variantNM_019843.4(EIF4ENIF1):c.1718C>T (p.Thr573Ile)not specified [RCV004922745]uncertain significance223144939831449398Humanname
597664562CV3670635single nucleotide variantNM_019843.4(EIF4ENIF1):c.2662C>T (p.Arg888Cys)not specified [RCV004912340]uncertain significance223144075831440758Humanname
597664570CV3670636single nucleotide variantNM_019843.4(EIF4ENIF1):c.1418G>A (p.Arg473Gln)not specified [RCV004912341]uncertain significance223145423831454238Humanname
597664578CV3670637single nucleotide variantNM_019843.4(EIF4ENIF1):c.1275A>T (p.Glu425Asp)not specified [RCV004912342]uncertain significance223145514031455140Humanname
597664587CV3670638single nucleotide variantNM_019843.4(EIF4ENIF1):c.2836A>C (p.Ser946Arg)not specified [RCV004912343]uncertain significance223144000231440002Humanname
597664595CV3670639single nucleotide variantNM_019843.4(EIF4ENIF1):c.2689A>G (p.Met897Val)not specified [RCV004912344]uncertain significance223144073131440731Humanname
597664604CV3670640single nucleotide variantNM_019843.4(EIF4ENIF1):c.2423T>C (p.Val808Ala)not specified [RCV004912345]uncertain significance223144190231441902Humanname
597664612CV3670642single nucleotide variantNM_019843.4(EIF4ENIF1):c.1123C>G (p.Pro375Ala)not specified [RCV004912346]uncertain significance223145529231455292Humanname
597746689CV3670643single nucleotide variantNM_019843.4(EIF4ENIF1):c.2761G>C (p.Val921Leu)not specified [RCV004922746]uncertain significance223144007731440077Humanname
597664620CV3670644single nucleotide variantNM_019843.4(EIF4ENIF1):c.2431G>A (p.Val811Ile)not specified [RCV004912347]uncertain significance223144189431441894Humanname
597664629CV3670645single nucleotide variantNM_019843.4(EIF4ENIF1):c.2372A>G (p.Lys791Arg)not specified [RCV004912348]uncertain significance223144195331441953Humanname
597746694CV3670647single nucleotide variantNM_019843.4(EIF4ENIF1):c.2211C>G (p.Asn737Lys)not specified [RCV004922747]uncertain significance223144211431442114Humanname
598179431CV3961409single nucleotide variantNM_001099408.2(EIF4E1B):c.370C>G (p.Gln124Glu)not specified [RCV005332511]likely benign5176645139176645139Humanname
598179483CV3961420single nucleotide variantNM_019843.4(EIF4ENIF1):c.2738G>C (p.Gly913Ala)not specified [RCV005332522]uncertain significance223144010031440100Humanname
598179494CV3961422single nucleotide variantNM_019843.4(EIF4ENIF1):c.1405G>A (p.Val469Ile)not specified [RCV005332524]uncertain significance223145425131454251Humanname
598179500CV3961423single nucleotide variantNM_019843.4(EIF4ENIF1):c.2527C>T (p.His843Tyr)not specified [RCV005332525]uncertain significance223144179831441798Humanname
598179506CV3961424single nucleotide variantNM_019843.4(EIF4ENIF1):c.2626C>T (p.Pro876Ser)not specified [RCV005332526]uncertain significance223144079431440794Humanname
598179526CV3961427single nucleotide variantNM_019843.4(EIF4ENIF1):c.2312T>C (p.Leu771Pro)not specified [RCV005332529]uncertain significance223144201331442013Humanname
598179533CV3961428single nucleotide variantNM_019843.4(EIF4ENIF1):c.1262A>T (p.Glu421Val)not specified [RCV005332530]uncertain significance223145515331455153Humanname
598179537CV3961429single nucleotide variantNM_019843.4(EIF4ENIF1):c.2665C>T (p.Pro889Ser)not specified [RCV005332531]uncertain significance223144075531440755Humanname
15106646CV758043single nucleotide variantNM_019843.4(EIF4ENIF1):c.1660A>C (p.Thr554Pro)not provided [RCV000915793]benign223144945631449456Humanname
401925393CV2828035single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.1590T>C (p.Asp530=)not provided [RCV003436460]likely benign5140459273140459273Humanname
156285218CV2349081single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.518G>A (p.Arg173Gln)not specified [RCV004205518]uncertain significance5140438518140438518Humanname
598162633CV3984193single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.2218T>G (p.Ser740Ala)not specified [RCV005368679]uncertain significance5140487033140487033Humanname
155926800CV2208292single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.4663C>T (p.Pro1555Ser)not specified [RCV004088732]uncertain significance5140526166140526166Humanname
155924746CV2211639single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.7771C>T (p.Arg2591Trp)not specified [RCV004084532]uncertain significance5140548997140548997Humanname
156328061CV2217408single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.7651C>T (p.Arg2551Trp)not specified [RCV004087840]uncertain significance5140542253140542253Humanname
155965001CV2308446single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.6791A>G (p.Asp2264Gly)not specified [RCV004166741]uncertain significance5140529737140529737Humanname
156176195CV2331151single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.7618C>G (p.Pro2540Ala)not specified [RCV004181760]uncertain significance5140542220140542220Humanname
155934785CV2372537single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.7583C>T (p.Pro2528Leu)not specified [RCV004219331]uncertain significance5140542185140542185Humanname
329401812CV2457454single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.7702A>C (p.Lys2568Gln)not specified [RCV004267276]uncertain significance5140548928140548928Humanname
401752290CV2723185single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.7831G>A (p.Asp2611Asn)not specified [RCV004329427]uncertain significance5140549057140549057Humanname
405810182CV3288120single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.7618C>A (p.Pro2540Thr)not specified [RCV004407890]uncertain significance5140542220140542220Humanname
405810186CV3288122single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.7636A>G (p.Lys2546Glu)not specified [RCV004407892]uncertain significance5140542238140542238Humanname
405810208CV3288132single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.7681C>A (p.His2561Asn)not specified [RCV004407902]uncertain significance5140548907140548907Humanname
405810219CV3288137single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.7700C>T (p.Pro2567Leu)not specified [RCV004407907]uncertain significance5140548926140548926Humanname
597623792CV3694226single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.7589T>G (p.Val2530Gly)not specified [RCV004936812]uncertain significance5140542191140542191Humanname
597623802CV3694236single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.7217A>G (p.Asn2406Ser)not specified [RCV004936822]uncertain significance5140537578140537578Humanname
597623813CV3694247single nucleotide variantNM_020690.6(ANKHD1-EIF4EBP3):c.7628C>G (p.Thr2543Ser)not specified [RCV004936833]uncertain significance5140542230140542230Humanname