EEF2 — 535 ClinVar variants
All ClinVar germline EEF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 205 flagged for review →
2 Pathogenic · 4 Likely pathogenic · 9 Conflicting · 67 Benign · 30 Benign/Likely benign · 176 Likely benign · 247 Uncertain significance
Full EEF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 205
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 137
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EEF2 p.Ala237Thr Uncertain significance Multiple submitters
- EEF2 p.Ala808Val Uncertain significance Multiple submitters
- EEF2 p.Arg633His Uncertain significance Multiple submitters
- EEF2 p.Arg647His Uncertain significance Multiple submitters
- EEF2 p.Arg726Trp Uncertain significance Multiple submitters
- EEF2 p.Gln365Glu Uncertain significance Multiple submitters
- EEF2 p.Glu370Asp Uncertain significance Multiple submitters
- EEF2 p.Gly213Cys Uncertain significance Multiple submitters
- EEF2 p.His705Tyr Uncertain significance Multiple submitters
- EEF2 p.Ile398Val Uncertain significance Multiple submitters
- EEF2 p.Ile568Val Uncertain significance Multiple submitters
- EEF2 p.Lys93Arg Uncertain significance Multiple submitters
- EEF2 p.Val154Leu Uncertain significance Multiple submitters
- EEF2 p.Val622Ala Uncertain significance Multiple submitters
- EEF2 p.Val747Met Uncertain significance Multiple submitters
- EEF2 p.Val762Ala Uncertain significance Multiple submitters
- EEF2 p.Ala117Thr Uncertain significance Single submitter
- EEF2 p.Ala146Gly Uncertain significance Single submitter
- EEF2 p.Ala146Thr Uncertain significance Single submitter
- EEF2 p.Ala381Ser Uncertain significance Single submitter
- EEF2 p.Ala412Thr Uncertain significance Single submitter
- EEF2 p.Ala43Val Uncertain significance Single submitter
- EEF2 p.Ala549Thr Uncertain significance Single submitter
- EEF2 p.Ala74Val Uncertain significance Single submitter
- EEF2 p.Ala836Val Uncertain significance Single submitter
- EEF2 p.Arg150His Uncertain significance Single submitter
- EEF2 p.Arg341His Uncertain significance Single submitter
- EEF2 p.Arg495Trp Uncertain significance Single submitter
- EEF2 p.Arg55His Uncertain significance Single submitter
- EEF2 p.Arg55Pro Uncertain significance Single submitter
- EEF2 p.Arg580Cys Uncertain significance Single submitter
- EEF2 p.Arg631Trp Uncertain significance Single submitter
- EEF2 p.Arg66His Uncertain significance Single submitter
- EEF2 p.Arg716Cys Uncertain significance Single submitter
- EEF2 p.Arg767Gln Uncertain significance Single submitter
- EEF2 p.Arg830Cys Uncertain significance Single submitter
- EEF2 p.Arg841Cys Uncertain significance Single submitter
- EEF2 p.Arg841His Uncertain significance Single submitter
- EEF2 p.Asn184Ser Uncertain significance Single submitter
- EEF2 p.Asn588Lys Uncertain significance Single submitter
- EEF2 p.Asn827Asp Uncertain significance Single submitter
- EEF2 p.Asp130Asn Uncertain significance Single submitter
- EEF2 p.Asp14Ala Uncertain significance Single submitter
- EEF2 p.Asp263His Uncertain significance Single submitter
- EEF2 p.Asp295Gly Uncertain significance Single submitter
-
EEF2 p.Asp295Val
Uncertain significance
Single submitter
spinocerebellar ataxia type 19/22
- EEF2 p.Asp29Ala Uncertain significance Single submitter
- EEF2 p.Asp320Glu Uncertain significance Single submitter
- EEF2 p.Asp327Glu Uncertain significance Single submitter
- EEF2 p.Asp531Asn Uncertain significance Single submitter
- EEF2 p.Asp611Glu Uncertain significance Single submitter
- EEF2 p.Asp664Glu Uncertain significance Single submitter
- EEF2 p.Gln670Glu Uncertain significance Single submitter
- EEF2 p.Gln811Arg Uncertain significance Single submitter
- EEF2 p.Gln91Arg Uncertain significance Single submitter
- EEF2 p.Glu170Asp Uncertain significance Single submitter
- EEF2 p.Glu310Asp Uncertain significance Single submitter
- EEF2 p.Glu310Lys Uncertain significance Single submitter
-
EEF2 p.Glu563Asp
Uncertain significance
Single submitter
EEF2-related disorder
- EEF2 p.Glu627Asp Uncertain significance Single submitter
- EEF2 p.Glu792Lys Uncertain significance Single submitter
- EEF2 p.Gly198Asp Uncertain significance Single submitter
- EEF2 p.Gly213Val Uncertain significance Single submitter
- EEF2 p.Gly220Arg Uncertain significance Single submitter
- EEF2 p.Gly282Arg Uncertain significance Single submitter
-
EEF2 p.Gly347Arg
Uncertain significance
Single submitter
EEF2-related Neurodevelopmental disorder
- EEF2 p.Gly384Cys Uncertain significance Single submitter
- EEF2 p.Gly408Val Uncertain significance Single submitter
- EEF2 p.Gly52Arg Uncertain significance Single submitter
- EEF2 p.Gly656Ser Uncertain significance Single submitter
- EEF2 p.His492Asp Uncertain significance Single submitter
- EEF2 p.His710Arg Uncertain significance Single submitter
- EEF2 p.Ile293Leu Uncertain significance Single submitter
- EEF2 p.Ile316Leu Uncertain significance Single submitter
- EEF2 p.Ile316Val Uncertain significance Single submitter
- EEF2 p.Ile321Val Uncertain significance Single submitter
- EEF2 p.Ile45Val Uncertain significance Single submitter
- EEF2 p.Ile665Val Uncertain significance Single submitter
- EEF2 p.Ile749Val Uncertain significance Single submitter
- EEF2 p.Ile759Met Uncertain significance Single submitter
- EEF2 p.Leu119Val Uncertain significance Single submitter
- EEF2 p.Leu174Phe Uncertain significance Single submitter
- EEF2 p.Leu294Val Uncertain significance Single submitter
- EEF2 p.Leu394Phe Uncertain significance Single submitter
- EEF2 p.Leu99Phe Uncertain significance Single submitter
- EEF2 p.Lys152Asn Uncertain significance Single submitter
- EEF2 p.Lys258Met Uncertain significance Single submitter
- EEF2 p.Lys525Thr Uncertain significance Single submitter
- EEF2 p.Met160Arg Uncertain significance Single submitter
- EEF2 p.Met257Ile Uncertain significance Single submitter
- EEF2 p.Met340Val Uncertain significance Single submitter
- EEF2 p.Met395Ile Uncertain significance Single submitter
- EEF2 p.Met401Thr Uncertain significance Single submitter
- EEF2 p.Met430Ile Uncertain significance Single submitter
-
EEF2 p.Met453Ile
Uncertain significance
Single submitter
spinocerebellar ataxia type 26
- EEF2 p.Met533Val Uncertain significance Single submitter
- EEF2 p.Met697Thr Uncertain significance Single submitter
- EEF2 p.Met781Lys Uncertain significance Single submitter
- EEF2 p.Phe178Ser Uncertain significance Single submitter
- EEF2 p.Phe223Leu Uncertain significance Single submitter
- EEF2 p.Phe298Val Uncertain significance Single submitter
- EEF2 p.Phe417Leu Uncertain significance Single submitter
- EEF2 p.Phe796Leu Uncertain significance Single submitter
- EEF2 p.Phe814Cys Uncertain significance Single submitter
- EEF2 p.Phe825Leu Uncertain significance Single submitter
- EEF2 p.Pro153Ala Uncertain significance Single submitter
- EEF2 p.Pro207Leu Uncertain significance Single submitter
- EEF2 p.Pro377Ala Uncertain significance Single submitter
-
EEF2 p.Pro377Leu
Uncertain significance
Single submitter
spinocerebellar ataxia type 26
- EEF2 p.Pro403Ser Uncertain significance Single submitter
- EEF2 p.Pro514Leu Uncertain significance Single submitter
- EEF2 p.Pro518Leu Uncertain significance Single submitter
- EEF2 p.Pro575Leu Uncertain significance Single submitter
- EEF2 p.Ser197Asn Uncertain significance Single submitter
- EEF2 p.Ser216Phe Uncertain significance Single submitter
- EEF2 p.Ser325Asn Uncertain significance Single submitter
- EEF2 p.Ser595Phe Uncertain significance Single submitter
- EEF2 p.Ser828Asn Uncertain significance Single submitter
- EEF2 p.Thr116Ser Uncertain significance Single submitter
- EEF2 p.Thr139Ser Uncertain significance Single submitter
- EEF2 p.Thr404Ile Uncertain significance Single submitter
- EEF2 p.Thr435Ile Uncertain significance Single submitter
- EEF2 p.Thr486Ala Uncertain significance Single submitter
-
EEF2 p.Thr708Ile
Uncertain significance
Single submitter
spinocerebellar ataxia type 26
- EEF2 p.Thr735Ile Uncertain significance Single submitter
- EEF2 p.Thr73Ile Uncertain significance Single submitter
- EEF2 p.Thr797Ile Uncertain significance Single submitter
- EEF2 p.Thr838Asn Uncertain significance Single submitter
- EEF2 p.Trp817Gly Uncertain significance Single submitter
- EEF2 p.Tyr434Cys Uncertain significance Single submitter
- EEF2 p.Tyr760Cys Uncertain significance Single submitter
- EEF2 p.Val142Ala Uncertain significance Single submitter
- EEF2 p.Val185Met Uncertain significance Single submitter
- EEF2 p.Val208Ala Uncertain significance Single submitter
- EEF2 p.Val475Met Uncertain significance Single submitter
- EEF2 p.Val704Ile Uncertain significance Single submitter
-
EEF2 p.Arg601Trp
Uncertain significance
No assertion criteria
EEF2-related disorder
Predictors split 66
The independent predictors disagree with each other — read with care.
- EEF2 p.Ala238Thr Uncertain significance Multiple submitters
- EEF2 p.Ala338Gly Uncertain significance Multiple submitters
- EEF2 p.Ala624Thr Uncertain significance Multiple submitters
- EEF2 p.Asn673Ser Uncertain significance Multiple submitters
- EEF2 p.Gly95Ser Likely benign Multiple submitters
- EEF2 p.Pro610Ala Uncertain significance Multiple submitters
- EEF2 p.Thr363Met Uncertain significance Multiple submitters
- EEF2 p.Ala11Val Uncertain significance Single submitter
- EEF2 p.Ala238Val Uncertain significance Single submitter
- EEF2 p.Ala511Ser Uncertain significance Single submitter
- EEF2 p.Ala644Val Uncertain significance Single submitter
- EEF2 p.Ala731Thr Uncertain significance Single submitter
- EEF2 p.Ala798Thr Uncertain significance Single submitter
- EEF2 p.Arg249Gln Conflicting Single submitter
- EEF2 p.Arg607Leu Uncertain significance Single submitter
- EEF2 p.Asn513Ile Uncertain significance Single submitter
-
EEF2 p.Asn600Lys
Uncertain significance
Single submitter
spinocerebellar ataxia type 26
-
EEF2 p.Asn660Ser
Uncertain significance
Single submitter
spinocerebellar ataxia type 26
- EEF2 p.Asp14Asn Uncertain significance Single submitter
- EEF2 p.Asp302Val Uncertain significance Single submitter
- EEF2 p.Asp327Asn Uncertain significance Single submitter
- EEF2 p.Asp574Asn Uncertain significance Single submitter
- EEF2 p.Asp611Gly Uncertain significance Single submitter
- EEF2 p.Gln243His Uncertain significance Single submitter
- EEF2 p.Gln291His Uncertain significance Single submitter
- EEF2 p.Glu170Val Uncertain significance Single submitter
- EEF2 p.Glu80Lys Uncertain significance Single submitter
- EEF2 p.Glu83Gly Uncertain significance Single submitter
- EEF2 p.Gly271Ala Uncertain significance Single submitter
- EEF2 p.Gly612Ala Uncertain significance Single submitter
- EEF2 p.Gly699Ser Uncertain significance Single submitter
- EEF2 p.His490Tyr Uncertain significance Single submitter
- EEF2 p.Ile103Val Uncertain significance Single submitter
- EEF2 p.Ile12Thr Uncertain significance Single submitter
- EEF2 p.Ile147Val Uncertain significance Single submitter
- EEF2 p.Ile316Met Uncertain significance Single submitter
- EEF2 p.Ile385Val Uncertain significance Single submitter
-
EEF2 p.Leu155Met
Uncertain significance
Single submitter
spinocerebellar ataxia type 26
- EEF2 p.Leu315Met Uncertain significance Single submitter
- EEF2 p.Leu729Phe Uncertain significance Single submitter
- EEF2 p.Leu77Val Uncertain significance Single submitter
- EEF2 p.Lys90Gln Uncertain significance Single submitter
- EEF2 p.Lys90Thr Uncertain significance Single submitter
- EEF2 p.Met160Val Uncertain significance Single submitter
- EEF2 p.Met231Ile Uncertain significance Single submitter
- EEF2 p.Met256Val Uncertain significance Single submitter
-
EEF2 p.Met494Leu
Uncertain significance
Single submitter
spinocerebellar ataxia type 26
- EEF2 p.Met604Leu Uncertain significance Single submitter
- EEF2 p.Pro246Arg Uncertain significance Single submitter
- EEF2 p.Pro246Leu Uncertain significance Single submitter
- EEF2 p.Pro268Ser Uncertain significance Single submitter
- EEF2 p.Pro280Ser Uncertain significance Single submitter
- EEF2 p.Pro334Leu Uncertain significance Single submitter
- EEF2 p.Pro376Ala Uncertain significance Single submitter
- EEF2 p.Pro390Ala Uncertain significance Single submitter
- EEF2 p.Pro390Leu Uncertain significance Single submitter
- EEF2 p.Pro390Ser Uncertain significance Single submitter
- EEF2 p.Ser48Leu Uncertain significance Single submitter
- EEF2 p.Ser623Phe Uncertain significance Single submitter
- EEF2 p.Ser92Gly Uncertain significance Single submitter
- EEF2 p.Thr687Ser Uncertain significance Single submitter
- EEF2 p.Tyr79Cys Uncertain significance Single submitter
- EEF2 p.Val589Ala Uncertain significance Single submitter
- EEF2 p.Val589Met Uncertain significance Single submitter
- EEF2 p.Val733Leu Uncertain significance Single submitter
-
EEF2 p.Glu772Lys
Likely pathogenic
No assertion criteria
spinocerebellar ataxia type 26
All EEF2 variants
Pathogenic 2
- p.Asp110Asn Single submitter
- p.Pro596His Single submitter spinocerebellar ataxia type 26
Likely pathogenic 4
- p.Asp531Ala Single submitter
- p.Gln145Ter Single submitter
- p.Gln670fs Single submitter EEF2-related neurodevelopmental disorder with multiple anomalies
- p.Glu772Lys No assertion criteria spinocerebellar ataxia type 26 ⚠
Conflicting classifications of pathogenicity 9
- c.1150+4C>T Single submitter
- c.1347-8T>G Single submitter
- c.219-10C>T Single submitter
- p.Arg249Gln Single submitter ⚠
- p.Gly271Ser Single submitter ⚠
- p.Ile205= Single submitter
- p.Ile485Val Single submitter ⚠
- p.Thr122= Single submitter
- p.Val747= Single submitter spinocerebellar ataxia type 26
Benign 67
- c.1150+15T>C Multiple submitters spinocerebellar ataxia type 26
- c.1713+15A>G Multiple submitters
- c.1713+8G>T Multiple submitters
- c.2067+10G>A Multiple submitters
- c.219-13C>T Multiple submitters
- c.2384-118G>A Multiple submitters
- c.3+126G>C Multiple submitters
- c.3+228T>C Multiple submitters
- c.4-105C>T Multiple submitters
- c.4-64C>T Multiple submitters
- c.400+26C>T Multiple submitters
- c.612+20G>A Multiple submitters
- c.898-76T>C Multiple submitters
- c.*111C>T Multiple submitters
- c.*231A>C Multiple submitters
- c.*3G>A Multiple submitters
- p.Ala237= Multiple submitters
- p.Ala777= Multiple submitters
- p.Ala808= Multiple submitters
- p.Arg150= Multiple submitters
- p.Arg162= Multiple submitters
- p.Arg20= Multiple submitters
- p.Asp302= Multiple submitters
- p.Gly523= Multiple submitters
- p.His108= Multiple submitters
- p.His544= Multiple submitters spinocerebellar ataxia type 26
- p.His705= Multiple submitters
- p.His769= Multiple submitters
- p.Ile189= Multiple submitters
- p.Ile556= Multiple submitters
- p.Leu590= Multiple submitters
- p.Leu844= Multiple submitters
- p.Lys93= Multiple submitters
- p.Pro514= Multiple submitters
- p.Pro810= Multiple submitters
- p.Ser405= Multiple submitters
- p.Ser793= Multiple submitters
- p.Tyr411= Multiple submitters
- c.1150+13G>A Single submitter
- c.1150+20G>A Single submitter
- c.1346+145C>A Single submitter
- c.1713+171C>G Single submitter
- c.218+16C>T Single submitter
- c.219-273A>G Single submitter
- c.2250+13C>T Single submitter
- c.2251-14T>C Single submitter
- c.2251-19T>A Single submitter
- c.2384-15C>T Single submitter
- c.3+11C>T Single submitter
- c.4-192A>G Single submitter
- c.400+18C>T Single submitter
- c.401-11C>T Single submitter
- c.401-12C>T Single submitter
- c.612+12C>T Single submitter
- c.612+13C>G Single submitter
- c.613-13C>T Single submitter
- c.*299C>T Single submitter
- p.Ala508= Single submitter
- p.Arg716= Single submitter
- p.Asp379= Single submitter
- p.Asp642= Single submitter
- p.Gly134= Single submitter
- p.His710= Single submitter
- p.Ile70= Single submitter
- p.Leu81= Single submitter
- p.Ser197= Single submitter
- p.Thr482= Single submitter
Benign/Likely benign 30
- c.1011+17G>A Multiple submitters
- c.1151-7C>T Multiple submitters
- c.2250+10A>G Multiple submitters
- p.Ala148= Multiple submitters
- p.Ala247= Multiple submitters
- p.Ala51= Multiple submitters
- p.Ala549= Multiple submitters
- p.Ala636= Multiple submitters
- p.Ala711= Multiple submitters
- p.Ala96= Multiple submitters
- p.Asn270= Multiple submitters
- p.Asp441= Multiple submitters
- p.Asp703= Multiple submitters
- p.Asp712= Multiple submitters
- p.Asp94= Multiple submitters
- p.Gly392= Multiple submitters
- p.Gly805= Multiple submitters
- p.His490= Multiple submitters
- p.Ile181= Multiple submitters
- p.Leu174= Multiple submitters
- p.Leu209= Multiple submitters
- p.Leu517= Multiple submitters
- p.Lys559= Multiple submitters
- p.Phe178= Multiple submitters
- p.Phe771= Multiple submitters
- p.Ser832= Multiple submitters
- p.Thr211= Multiple submitters
- p.Thr5= Multiple submitters
- p.Thr582= Multiple submitters
- p.Thr663= Multiple submitters
Likely benign 176
- c.1605+18C>T Multiple submitters
- c.2067+55C>T Multiple submitters
- c.2068-15C>T Multiple submitters
- c.218+204C>T Multiple submitters
- c.3+134G>T Multiple submitters
- c.4-141G>A Multiple submitters
- c.4-8T>A Multiple submitters
- p.Arg701= Multiple submitters
- p.Asn493= Multiple submitters
- p.Asp267= Multiple submitters
- p.Gly431= Multiple submitters
- p.Gly95Ser Multiple submitters ⚠
- p.Ile46= Multiple submitters
- p.Leu820= Multiple submitters
- p.Ser279= Multiple submitters
- p.Ser587= Multiple submitters
- p.Thr724= Multiple submitters
- c.1011+17G>C Single submitter
- c.1012-14C>T Single submitter
- c.1012-17G>A Single submitter
- c.1012-18C>T Single submitter
- c.1012-20A>C Single submitter
- c.1012-4G>A Single submitter
- c.1012-5C>T Single submitter
- c.1150+19C>T Single submitter
- c.1151-6C>T Single submitter
- c.1346+34A>C Single submitter
- c.1346+9C>T Single submitter
- c.1347-11G>A Single submitter
- c.1347-16C>T Single submitter
- c.1347-17C>T Single submitter
- c.1347-19C>T Single submitter
- c.1347-20C>T Single submitter
- c.1605+115dup Single submitter
- c.1605+8C>T Single submitter
- c.1605+9G>A Single submitter
- c.1606-13del Single submitter
- c.1606-14C>T Single submitter
- c.1713+9C>T Single submitter
- c.1714-172T>C Single submitter
- c.1714-208C>T Single submitter
- c.1714-6T>C Single submitter
- c.2067+9C>T Single submitter
- c.2068-4C>A Single submitter
- c.2068-5C>A Single submitter
- c.218+9C>T Single submitter
- c.219-14C>T Single submitter
- c.219-15C>T Single submitter
- c.219-20C>T Single submitter
- c.2250+20C>T Single submitter
- c.2251-12C>T Single submitter
- c.2251-5G>C Single submitter
- c.2251-7C>G Single submitter
- c.2251-7C>T Single submitter
- c.2383+14C>T Single submitter
- c.2383+15G>A Single submitter
- c.2383+7G>T Single submitter
- c.2383+8C>T Single submitter
- c.2384-13C>T Single submitter
- c.2384-15C>G Single submitter
- c.2384-163A>G Single submitter
- c.2384-197A>G Single submitter
- c.2384-3C>T Single submitter
- c.2384-9C>T Single submitter
- c.3+10C>G Single submitter
- c.4-15C>T Single submitter
- c.4-19G>A Single submitter
- c.4-4C>T Single submitter
- c.401-10G>A Single submitter
- c.401-14C>T Single submitter
- c.401-18_401-14dup Single submitter
- c.401-7T>G Single submitter
- c.612+9C>T Single submitter
- c.613-17G>T Single submitter
- c.613-18C>T Single submitter
- c.613-20C>G Single submitter
- c.613-20C>T Single submitter
- c.613-4C>G Single submitter
- c.613-9C>T Single submitter
- c.791+11C>T Single submitter
- c.791+12G>A Single submitter
- c.791+13G>A Single submitter
- c.791+9C>T Single submitter
- c.792-31A>G Single submitter
- c.792-4C>T Single submitter
- c.792-7T>C Single submitter
- c.792-9C>T Single submitter
- c.897+149G>A Single submitter
- c.897+15C>T Single submitter
- c.898-17C>T Single submitter
- c.898-20_898-14del Single submitter
- c.898-6A>G Single submitter
- p.Ala11= Single submitter
- p.Ala146= Single submitter
- p.Ala229= Single submitter
- p.Ala303= Single submitter
- p.Ala346= Single submitter
- p.Ala349= Single submitter
- p.Ala547= Single submitter
- p.Ala614= Single submitter
- p.Ala632= Single submitter
- p.Ala836= Single submitter
- p.Arg55= Single submitter
- p.Arg66= Single submitter
- p.Asn186= Single submitter
- p.Asn673= Single submitter
- p.Asn791= Single submitter
- p.Asn827= Single submitter
- p.Asn87= Single submitter
- p.Asp161= Single submitter
- p.Asp348= Single submitter
- p.Asp706= Single submitter
- p.Gln818= Single submitter
- p.Glu65= Single submitter
- p.Glu837= Single submitter
- p.Gly419= Single submitter
- p.Gly44= Single submitter
- p.Gly52= Single submitter
- p.Gly550= Single submitter
- p.Gly612= Single submitter
- p.Gly658= Single submitter
- p.Gly718= Single submitter
- p.His565= Single submitter
- p.Ile25= Single submitter
- p.Ile461= Single submitter
- p.Ile538= Single submitter
- p.Ile546= Single submitter
- p.Ile675= Single submitter
- p.Ile9= Single submitter
- p.Leu143= Single submitter
- p.Leu165= Single submitter
- p.Leu319= Single submitter
- p.Leu344= Single submitter
- p.Leu452= Single submitter
- p.Leu520= Single submitter
- p.Lys272= Single submitter
- p.Phe236= Single submitter
- p.Phe289= Single submitter
- p.Phe410= Single submitter
- p.Pro280= Single submitter
- p.Pro377= Single submitter
- p.Pro460= Single submitter
- p.Pro575= Single submitter
- p.Pro654= Single submitter
- p.Pro780= Single submitter
- p.Pro789= Single submitter
- p.Pro821= Single submitter
- p.Ser113= Single submitter
- p.Ser325= Single submitter
- p.Ser38= Single submitter
- p.Ser623= Single submitter
- p.Ser72= Single submitter
- p.Ser76= Single submitter
- p.Ser82= Single submitter
- p.Thr141= Single submitter
- p.Thr288= Single submitter
- p.Thr312= Single submitter
- p.Thr363= Single submitter
- p.Thr450= Single submitter
- p.Thr487= Single submitter
- p.Thr735= Single submitter
- p.Tyr192= Single submitter
- p.Tyr265= Single submitter
- p.Tyr373= Single submitter
- p.Tyr443= Single submitter
- p.Tyr457= Single submitter
- p.Tyr639= Single submitter
- p.Tyr760= Single submitter
- p.Val109= Single submitter
- p.Val135= Single submitter
- p.Val154= Single submitter
- p.Val300= Single submitter
- p.Val480= Single submitter
- p.Val589= Single submitter
- p.Val784= Single submitter
- p.Thr657= No assertion criteria EEF2-related disorder
Uncertain significance 247
- p.Ala237Thr Multiple submitters ⚠
- p.Ala238Thr Multiple submitters ⚠
- p.Ala338Gly Multiple submitters ⚠
- p.Ala624Thr Multiple submitters ⚠
- p.Ala808Val Multiple submitters ⚠
- p.Arg633His Multiple submitters ⚠
- p.Arg647His Multiple submitters ⚠
- p.Arg726Trp Multiple submitters ⚠
- p.Asn673Ser Multiple submitters ⚠
- p.Gln365Glu Multiple submitters ⚠
- p.Glu370Asp Multiple submitters ⚠
- p.Gly213Cys Multiple submitters ⚠
- p.His705Tyr Multiple submitters ⚠
- p.Ile398Val Multiple submitters ⚠
- p.Ile568Val Multiple submitters ⚠
- p.Lys93Arg Multiple submitters ⚠
- p.Pro610Ala Multiple submitters ⚠
- p.Ser113del Multiple submitters neurodevelopmental disorder
- p.Thr363Met Multiple submitters ⚠
- p.Val154Leu Multiple submitters ⚠
- p.Val622Ala Multiple submitters ⚠
- p.Val747Met Multiple submitters ⚠
- p.Val762Ala Multiple submitters ⚠
- c.1011+4C>T Single submitter
- c.1011+5G>A Single submitter
- c.1011+6G>T Single submitter
- c.1012-2dup Single submitter
- c.1150+1del Single submitter
- c.1150+5G>A Single submitter
- c.1346+2_1346+3del Single submitter Motor delay
- c.1714-11T>G Single submitter
- c.219-14_219-13delinsTT Single submitter
- c.219-2A>G Single submitter
- c.219-9_219-6del Single submitter
- c.2250+1G>A Single submitter
- c.4-3C>G Single submitter
- c.400+3A>G Single submitter
- c.612+4C>G Single submitter
- c.613-4C>T Single submitter
- c.791+14_791+15delinsAT Single submitter
- c.791+3G>A Single submitter
- c.791+6C>T Single submitter
- c.792-3C>G Single submitter
- c.792-4C>G Single submitter
- c.898-10G>A Single submitter
- c.898-9G>A Single submitter
- c.-7C>G Single submitter
- p.Ala117Thr Single submitter ⚠
- p.Ala11Val Single submitter ⚠
- p.Ala146Gly Single submitter ⚠
- p.Ala146Thr Single submitter ⚠
- p.Ala148fs Single submitter spinocerebellar ataxia type 26
- p.Ala238Val Single submitter ⚠
- p.Ala381Ser Single submitter ⚠
- p.Ala412Thr Single submitter ⚠
- p.Ala43Val Single submitter ⚠
- p.Ala511Ser Single submitter ⚠
- p.Ala549Thr Single submitter ⚠
- p.Ala644Val Single submitter ⚠
- p.Ala731Thr Single submitter ⚠
- p.Ala74Val Single submitter ⚠
- p.Ala798Thr Single submitter ⚠
- p.Ala836Val Single submitter ⚠
- p.Arg150His Single submitter ⚠
- p.Arg341His Single submitter ⚠
- p.Arg495Trp Single submitter ⚠
- p.Arg55His Single submitter ⚠
- p.Arg55Pro Single submitter ⚠
- p.Arg580Cys Single submitter ⚠
- p.Arg607Leu Single submitter ⚠
- p.Arg631Trp Single submitter ⚠
- p.Arg66His Single submitter ⚠
- p.Arg716Cys Single submitter ⚠
- p.Arg767Gln Single submitter ⚠
- p.Arg830Cys Single submitter ⚠
- p.Arg841Cys Single submitter ⚠
- p.Arg841His Single submitter ⚠
- p.Asn184Ser Single submitter ⚠
- p.Asn468fs Single submitter
- p.Asn513Ile Single submitter ⚠
- p.Asn588Lys Single submitter ⚠
- p.Asn600Lys Single submitter spinocerebellar ataxia type 26 ⚠
- p.Asn660Ser Single submitter spinocerebellar ataxia type 26 ⚠
- p.Asn827Asp Single submitter ⚠
- p.Asp130Asn Single submitter ⚠
- p.Asp14Ala Single submitter ⚠
- p.Asp14Asn Single submitter ⚠
- p.Asp263His Single submitter ⚠
- p.Asp295Gly Single submitter ⚠
- p.Asp295Val Single submitter spinocerebellar ataxia type 19/22 ⚠
- p.Asp29Ala Single submitter ⚠
- p.Asp302Val Single submitter ⚠
- p.Asp320Glu Single submitter ⚠
- p.Asp327Asn Single submitter ⚠
- p.Asp327Glu Single submitter ⚠
- p.Asp531Asn Single submitter ⚠
- p.Asp574Asn Single submitter ⚠
- p.Asp611Glu Single submitter ⚠
- p.Asp611Gly Single submitter ⚠
- p.Asp664Glu Single submitter ⚠
- p.Cys369= Single submitter
- p.Gln243His Single submitter ⚠
- p.Gln291His Single submitter ⚠
- p.Gln670= Single submitter
- p.Gln670Glu Single submitter ⚠
- p.Gln811Arg Single submitter ⚠
- p.Gln91Arg Single submitter ⚠
- p.Glu170Asp Single submitter ⚠
- p.Glu170Val Single submitter ⚠
- p.Glu310Asp Single submitter ⚠
- p.Glu310Lys Single submitter ⚠
- p.Glu317Arg Single submitter spinocerebellar ataxia type 26
- p.Glu489fs Single submitter
- p.Glu563Asp Single submitter EEF2-related disorder ⚠
- p.Glu627Asp Single submitter ⚠
- p.Glu742Ter Single submitter EEF2-related disorder
- p.Glu792Lys Single submitter ⚠
- p.Glu80Lys Single submitter ⚠
- p.Glu83Gly Single submitter ⚠
- p.Gly195= Single submitter
- p.Gly198Asp Single submitter ⚠
- p.Gly213Val Single submitter ⚠
- p.Gly220Arg Single submitter ⚠
- p.Gly242fs Single submitter
- p.Gly271Ala Single submitter ⚠
- p.Gly282Arg Single submitter ⚠
- p.Gly347Arg Single submitter EEF2-related Neurodevelopmental disorder ⚠
- p.Gly384Cys Single submitter ⚠
- p.Gly408Val Single submitter ⚠
- p.Gly52Arg Single submitter ⚠
- p.Gly612Ala Single submitter ⚠
- p.Gly620fs Single submitter
- p.Gly656Ser Single submitter ⚠
- p.Gly699Ser Single submitter ⚠
- p.His490Tyr Single submitter ⚠
- p.His492Asp Single submitter ⚠
- p.His710Arg Single submitter ⚠
- p.Ile103Val Single submitter ⚠
- p.Ile12Thr Single submitter ⚠
- p.Ile147Val Single submitter ⚠
- p.Ile293Leu Single submitter ⚠
- p.Ile316Leu Single submitter ⚠
- p.Ile316Met Single submitter ⚠
- p.Ile316Val Single submitter ⚠
- p.Ile321Val Single submitter ⚠
- p.Ile385Val Single submitter ⚠
- p.Ile429= Single submitter
- p.Ile45Val Single submitter ⚠
- p.Ile665Val Single submitter ⚠
- p.Ile749Val Single submitter ⚠
- p.Ile759Met Single submitter ⚠
- p.Leu119Val Single submitter ⚠
- p.Leu155Met Single submitter spinocerebellar ataxia type 26 ⚠
- p.Leu174Phe Single submitter ⚠
- p.Leu292= Single submitter
- p.Leu294Val Single submitter ⚠
- p.Leu315Met Single submitter ⚠
- p.Leu394Phe Single submitter ⚠
- p.Leu729Phe Single submitter ⚠
- p.Leu77Val Single submitter ⚠
- p.Leu99Phe Single submitter ⚠
- p.Lys152Asn Single submitter ⚠
- p.Lys258Met Single submitter ⚠
- p.Lys439del Single submitter
- p.Lys525Thr Single submitter ⚠
- p.Lys90Gln Single submitter ⚠
- p.Lys90Thr Single submitter ⚠
- p.Met160Arg Single submitter ⚠
- p.Met160Val Single submitter ⚠
- p.Met1Thr Single submitter
- p.Met231Ile Single submitter ⚠
- p.Met256Val Single submitter ⚠
- p.Met257Ile Single submitter ⚠
- p.Met340Val Single submitter ⚠
- p.Met395Ile Single submitter ⚠
- p.Met401Thr Single submitter ⚠
- p.Met430Ile Single submitter ⚠
- p.Met453Ile Single submitter spinocerebellar ataxia type 26 ⚠
- p.Met494Leu Single submitter spinocerebellar ataxia type 26 ⚠
- p.Met533Val Single submitter ⚠
- p.Met604Leu Single submitter ⚠
- p.Met697Thr Single submitter ⚠
- p.Met781Lys Single submitter ⚠
- p.Phe178Ser Single submitter ⚠
- p.Phe223Leu Single submitter ⚠
- p.Phe289del Single submitter
- p.Phe298Val Single submitter ⚠
- p.Phe417Leu Single submitter ⚠
- p.Phe78= Single submitter
- p.Phe796Leu Single submitter ⚠
- p.Phe814Cys Single submitter ⚠
- p.Phe825Leu Single submitter ⚠
- p.Pro106= Single submitter
- p.Pro153Ala Single submitter ⚠
- p.Pro207Leu Single submitter ⚠
- p.Pro246Arg Single submitter ⚠
- p.Pro246Leu Single submitter ⚠
- p.Pro268Ser Single submitter ⚠
- p.Pro280Ser Single submitter ⚠
- p.Pro334Leu Single submitter ⚠
- p.Pro376Ala Single submitter ⚠
- p.Pro377Ala Single submitter ⚠
- p.Pro377Leu Single submitter spinocerebellar ataxia type 26 ⚠
- p.Pro390Ala Single submitter ⚠
- p.Pro390Leu Single submitter ⚠
- p.Pro390Ser Single submitter ⚠
- p.Pro403Ser Single submitter ⚠
- p.Pro514Leu Single submitter ⚠
- p.Pro518Leu Single submitter ⚠
- p.Pro575Leu Single submitter ⚠
- p.Ser133= Single submitter
- p.Ser190= Single submitter
- p.Ser197Asn Single submitter ⚠
- p.Ser216Phe Single submitter ⚠
- p.Ser325Asn Single submitter ⚠
- p.Ser48Leu Single submitter ⚠
- p.Ser595Phe Single submitter ⚠
- p.Ser623Phe Single submitter ⚠
- p.Ser828Asn Single submitter ⚠
- p.Ser82fs Single submitter
- p.Ser92= Single submitter
- p.Ser92Gly Single submitter ⚠
- p.Thr116Ser Single submitter ⚠
- p.Thr139Ser Single submitter ⚠
- p.Thr404Ile Single submitter ⚠
- p.Thr435Ile Single submitter ⚠
- p.Thr486Ala Single submitter ⚠
- p.Thr687Ser Single submitter ⚠
- p.Thr708Ile Single submitter spinocerebellar ataxia type 26 ⚠
- p.Thr735Ile Single submitter ⚠
- p.Thr73Ile Single submitter ⚠
- p.Thr797Ile Single submitter ⚠
- p.Thr838Asn Single submitter ⚠
- p.Trp817Gly Single submitter ⚠
- p.Tyr434Cys Single submitter ⚠
- p.Tyr760Cys Single submitter ⚠
- p.Tyr79Cys Single submitter ⚠
- p.Val142Ala Single submitter ⚠
- p.Val185Met Single submitter ⚠
- p.Val208Ala Single submitter ⚠
- p.Val475Met Single submitter ⚠
- p.Val589Ala Single submitter ⚠
- p.Val589Met Single submitter ⚠
- p.Val704Ile Single submitter ⚠
- p.Val733Leu Single submitter ⚠
- p.Val813_Phe814insTer Single submitter
- p.Arg601Trp No assertion criteria EEF2-related disorder ⚠