EEF1A2 — 600 ClinVar variants
All ClinVar germline EEF1A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 181 flagged for review →
8 Pathogenic · 8 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 24 Conflicting · 50 Benign · 12 Benign/Likely benign · 281 Likely benign · 191 Uncertain significance
Full EEF1A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 181
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
EEF1A2 p.Ala125Glu
Conflicting
Single submitter
EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy
-
EEF1A2 p.Ala281Val
Conflicting
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Asp17His
Conflicting
Single submitter
EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy
-
EEF1A2 p.Cys111Tyr
Conflicting
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Glu169Lys
Conflicting
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Gly131Arg
Conflicting
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Ile379Thr
Conflicting
Single submitter
intellectual disability, autosomal dominant 38
-
EEF1A2 p.Met102Thr
Conflicting
Single submitter
hereditary spastic paraplegia 46
-
EEF1A2 p.Thr106Ile
Conflicting
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Thr133Met
Conflicting
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Thr24Met
Conflicting
Single submitter
EEF1A2-related disorder
-
EEF1A2 p.Asp252His
Conflicting
No assertion criteria
intellectual disability, autosomal dominant 38
Predictors lean, ClinVar uncertain 100
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
EEF1A2 p.Ala112Thr
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Ala117Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EEF1A2 p.Ala57Thr
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Ala65Val
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Arg166Cys
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Arg240Cys
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Arg247Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EEF1A2 p.Arg321Trp
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Gly119Asp
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Gly309Ser
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Gly397Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EEF1A2 p.Ile181Met
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Met155Ile
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Met429Arg
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 38
-
EEF1A2 p.Ser316Trp
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Thr261Met
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Val150Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EEF1A2 p.Ala109Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Ala112Val
Uncertain significance
Single submitter
Developmental disorder
-
EEF1A2 p.Ala118Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Ala366Val Uncertain significance Single submitter
-
EEF1A2 p.Ala399Glu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Ala46Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Arg134Gln
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Arg134Trp
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Arg166His
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Arg321Gln
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 38
-
EEF1A2 p.Arg382Pro
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Arg69His
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Asn314Lys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Asn390Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Asp389Gly Uncertain significance Single submitter
-
EEF1A2 p.Asp398Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EEF1A2 p.Asp91Tyr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Asp97His
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Asp97Tyr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Glu135Gln
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Glu169Gly
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Glu268Lys Uncertain significance Single submitter
-
EEF1A2 p.Glu288Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EEF1A2 p.Glu297Lys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Glu413Asp Uncertain significance Single submitter
- EEF1A2 p.Gly144Ala Uncertain significance Single submitter
-
EEF1A2 p.Gly14Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Gly151Asp
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Gly195Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Gly19Arg Uncertain significance Single submitter
- EEF1A2 p.Gly225Ser Uncertain significance Single submitter
-
EEF1A2 p.Gly257Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Gly258Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Gly260Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
EEF1A2 p.Gly260Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Gly270Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Gly32Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Gly351Glu
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 38
- EEF1A2 p.Gly397Ala Uncertain significance Single submitter
-
EEF1A2 p.His15Tyr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Ile115Thr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Ile178Phe
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Ile178Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Ile256Met
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Ile320Leu Uncertain significance Single submitter
- EEF1A2 p.Ile320Thr Uncertain significance Single submitter
- EEF1A2 p.Ile353Thr Uncertain significance Single submitter
-
EEF1A2 p.Ile39Phe
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Leu246Pro
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Lys129Thr Uncertain significance Single submitter
-
EEF1A2 p.Lys36Glu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Lys457Glu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Lys62Glu Uncertain significance Single submitter
-
EEF1A2 p.Lys79Asn
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Met201Thr Uncertain significance Single submitter
-
EEF1A2 p.Met429Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Pro192Thr Uncertain significance Single submitter
-
EEF1A2 p.Pro238Thr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Pro245Ser Uncertain significance Single submitter
-
EEF1A2 p.Pro333Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Pro334Leu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Pro334Thr Uncertain significance Single submitter
-
EEF1A2 p.Ser157Tyr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Ser194Phe Uncertain significance Single submitter
-
EEF1A2 p.Ser21Phe
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Thr104Met Uncertain significance Single submitter
- EEF1A2 p.Thr234Ser Uncertain significance Single submitter
- EEF1A2 p.Thr269Ile Uncertain significance Single submitter
-
EEF1A2 p.Thr365Arg
Uncertain significance
Single submitter
EEF1A2-related disorder
-
EEF1A2 p.Thr72Ala
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Tyr177Ser Uncertain significance Single submitter
-
EEF1A2 p.Val116Leu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Val116Met
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Val16Ala
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 38
-
EEF1A2 p.Val16Met
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Val188Met
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Val253Met
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Val264Met Uncertain significance Single submitter
-
EEF1A2 p.Val278Leu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Val441Met Uncertain significance Single submitter
- EEF1A2 p.Asp362Asn Uncertain significance No assertion criteria
-
EEF1A2 p.Leu421Phe
Uncertain significance
No assertion criteria
Seizure
-
EEF1A2 p.Val11Met
Uncertain significance
No assertion criteria
EEF1A2-related disorder
Predictors split 68
The independent predictors disagree with each other — read with care.
-
EEF1A2 p.Ala461Val
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Arg218His
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 38
-
EEF1A2 p.Asp252Asn
Pathogenic/Likely pathogenic
Multiple submitters
EEF1A2-related disorder
-
EEF1A2 p.Glu164Lys
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Gly449Ser
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Ile320Val
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 38
-
EEF1A2 p.Ile368Val
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Lys179Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EEF1A2 p.Ser445Arg
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Val171Ile
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Val191Met
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Val226Met
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Val437Ile
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Ala186Thr Uncertain significance Single submitter
-
EEF1A2 p.Ala223Thr
Conflicting
Single submitter
intellectual disability, autosomal dominant 38
-
EEF1A2 p.Ala231Gly
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Ala355Val
Conflicting
Single submitter
Inborn genetic diseases
-
EEF1A2 p.Ala399Thr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Ala455Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Arg240His
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Arg273Gln
Likely benign
Single submitter
Inborn genetic diseases
- EEF1A2 p.Arg273Trp Uncertain significance Single submitter
-
EEF1A2 p.Arg381Trp
Conflicting
Single submitter
intellectual disability
- EEF1A2 p.Arg382His Pathogenic Single submitter
- EEF1A2 p.Arg430Lys Uncertain significance Single submitter
-
EEF1A2 p.Asn207Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Asn324Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Asp243Asn
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Asp389Asn
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Gln335His Uncertain significance Single submitter
-
EEF1A2 p.Gly275Ala
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Gly446Cys
Uncertain significance
Single submitter
vascular disorder
-
EEF1A2 p.Ile193Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Leu143Val Uncertain significance Single submitter
-
EEF1A2 p.Leu148Ile
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Leu394Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Lys165Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Lys172Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Lys212Arg Uncertain significance Single submitter
-
EEF1A2 p.Lys255Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Lys318Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Lys439Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Lys443Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Lys460Arg
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 38
- EEF1A2 p.Lys51Arg Uncertain significance Single submitter
-
EEF1A2 p.Lys55Arg
Uncertain significance
Single submitter
neurodevelopmental disorder
-
EEF1A2 p.Met276Thr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Phe123Leu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Phe42Ile
Conflicting
Single submitter
Inborn genetic diseases
-
EEF1A2 p.Pro209Leu
Likely benign
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Ser157Ala
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Ser163Gly
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Ser175Asn Likely benign Single submitter
-
EEF1A2 p.Ser331Cys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Ser354Asn
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Ser414Asn Uncertain significance Single submitter
-
EEF1A2 p.Thr239Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Thr239Met
Conflicting
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Thr23Ser Likely benign Single submitter
-
EEF1A2 p.Thr242Met
Conflicting
Single submitter
Inborn genetic diseases
-
EEF1A2 p.Thr6Ile
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
- EEF1A2 p.Val120Met Uncertain significance Single submitter
- EEF1A2 p.Val216Met Uncertain significance Single submitter
-
EEF1A2 p.Val226Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- EEF1A2 p.Val277Leu Uncertain significance Single submitter
-
EEF1A2 p.Val435Ala
Pathogenic
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Val441Leu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
-
EEF1A2 p.Val451Ile
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 33
All EEF1A2 variants
Pathogenic 8
- p.Asp91Asn Multiple submitters intellectual disability, autosomal dominant 38
- p.Gly70Ser Multiple submitters complex neurodevelopmental disorder
- p.Ala92Thr Single submitter developmental and epileptic encephalopathy, 33
- p.Arg382His Single submitter ⚠
- p.Arg69Cys Single submitter developmental and epileptic encephalopathy, 33
- p.Arg96Cys Single submitter intellectual disability, autosomal dominant 38
- p.Thr142Ala Single submitter Inborn genetic diseases
- p.Val435Ala Single submitter developmental and epileptic encephalopathy, 33 ⚠
Pathogenic/Likely pathogenic 8
- p.Arg266Trp Multiple submitters EEF1A2-related disorder
- p.Arg423Cys Multiple submitters developmental and epileptic encephalopathy, 33
- p.Asp252Asn Multiple submitters EEF1A2-related disorder ⚠
- p.Asp97Asn Multiple submitters Inborn genetic diseases
- p.Glu122Lys Multiple submitters Inborn genetic diseases
- p.Glu124Lys Multiple submitters intellectual disability, autosomal dominant 38
- p.Gly384Arg Multiple submitters developmental and epileptic encephalopathy, 33
- p.Thr432Met Multiple submitters intellectual disability, autosomal dominant 38
Likely pathogenic 26
- p.Val437Phe Multiple submitters developmental and epileptic encephalopathy, 33
- c.1265-1dup Single submitter
- p.Ala338Thr Single submitter ⚠
- p.Arg266Gln Single submitter intellectual disability, autosomal dominant 38
- p.Arg67Cys Single submitter
- p.Asp17Gly Single submitter developmental and epileptic encephalopathy, 33
- p.Asp362Tyr Single submitter Inborn genetic diseases
- p.Gln343Lys Single submitter intellectual disability, autosomal dominant 38
- p.Glu268Ala Single submitter intellectual disability, autosomal dominant 38
- p.Glu288Gly Single submitter developmental and epileptic encephalopathy, 33
- p.Gly126Arg Single submitter
- p.Gly275Arg Single submitter intellectual disability, autosomal dominant 38
- p.His15Asn Single submitter developmental and epileptic encephalopathy, 33
- p.His296Gln Single submitter
- p.His95Gln Single submitter EEF1A2-related disorder
- p.Phe123Cys Single submitter
- p.Phe98Cys Single submitter EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy
- p.Pro274Leu Single submitter developmental and epileptic encephalopathy, 33
- p.Pro420Arg Single submitter developmental and epileptic encephalopathy, 33
- p.Val315Met Single submitter
- p.Arg96His No assertion criteria
- p.Asp380His No assertion criteria developmental and epileptic encephalopathy, 33
- p.Gly356Ser No assertion criteria
- p.Pro420Leu No assertion criteria
- p.Thr104Arg No assertion criteria
- p.Val16Leu No assertion criteria developmental and epileptic encephalopathy, 33
Conflicting classifications of pathogenicity 24
- c.1029+3G>C Single submitter developmental and epileptic encephalopathy, 33
- c.1029+3G>T Single submitter Inborn genetic diseases
- c.1029+4G>C Single submitter developmental and epileptic encephalopathy, 33
- c.324+5dup Single submitter developmental and epileptic encephalopathy, 33
- p.456QKA[1] Single submitter Inborn genetic diseases
- p.Ala125Glu Single submitter EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy ⚠
- p.Ala223Thr Single submitter intellectual disability, autosomal dominant 38 ⚠
- p.Ala281Val Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ala355Val Single submitter Inborn genetic diseases ⚠
- p.Arg381Trp Single submitter intellectual disability ⚠
- p.Asp17His Single submitter EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy ⚠
- p.Cys111Tyr Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Glu169Lys Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Gly131Arg Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ile379Thr Single submitter intellectual disability, autosomal dominant 38 ⚠
- p.Ile90= Single submitter developmental and epileptic encephalopathy, 33
- p.Met102Thr Single submitter hereditary spastic paraplegia 46 ⚠
- p.Phe42Ile Single submitter Inborn genetic diseases ⚠
- p.Thr106Ile Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Thr133Met Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Thr239Met Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Thr242Met Single submitter Inborn genetic diseases ⚠
- p.Thr24Met Single submitter EEF1A2-related disorder ⚠
- p.Asp252His No assertion criteria intellectual disability, autosomal dominant 38 ⚠
Benign 50
- c.1029+106A>G Multiple submitters
- c.1029+12C>T Multiple submitters developmental and epileptic encephalopathy, 33
- c.1029+130T>C Multiple submitters
- c.1030-10C>A Multiple submitters developmental and epileptic encephalopathy, 33
- c.1030-64C>T Multiple submitters
- c.1030-8G>A Multiple submitters developmental and epileptic encephalopathy, 33
- c.1265-15C>T Multiple submitters developmental and epileptic encephalopathy, 33
- c.1265-97A>G Multiple submitters
- c.144+78C>T Multiple submitters
- c.145-133C>T Multiple submitters
- c.145-38C>T Multiple submitters
- c.324+88A>G Multiple submitters
- c.622-34C>T Multiple submitters
- c.772+31C>A Multiple submitters intellectual disability, autosomal dominant 38
- c.-72+60C>T Multiple submitters
- c.-72+8C>A Multiple submitters
- p.Ala125= Multiple submitters Inborn genetic diseases
- p.Glu442= Multiple submitters Inborn genetic diseases
- p.Gly198= Multiple submitters intellectual disability, autosomal dominant 38
- p.Gly225= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Lys79= Multiple submitters Inborn genetic diseases
- p.Pro160= Multiple submitters Inborn genetic diseases
- p.Ser445= Multiple submitters Inborn genetic diseases
- c.1029+8dup Single submitter developmental and epileptic encephalopathy, 33
- c.1030-232GCCCCT[3] Single submitter
- c.1030-30C>T Single submitter
- c.1264+18G>A Single submitter developmental and epileptic encephalopathy, 33
- c.1265-15dup Single submitter developmental and epileptic encephalopathy, 33
- c.1265-35C>T Single submitter
- c.1265-3del Single submitter developmental and epileptic encephalopathy, 33
- c.1265-45del Single submitter
- c.144+238A>G Single submitter
- c.144+46C>T Single submitter
- c.145-230G>A Single submitter
- c.145-23G>A Single submitter
- c.325-291C>T Single submitter
- c.325-33G>A Single submitter
- c.621+159C>T Single submitter
- c.621+268C>T Single submitter
- c.772+288CCAT[6] Single submitter
- c.772+314ATCC[3] Single submitter
- c.773-123C>A Single submitter
- c.773-142T>C Single submitter
- c.773-170del Single submitter
- c.-25G>A Single submitter
- c.-72+100A>C Single submitter
- p.Ala425= Single submitter developmental and epileptic encephalopathy, 33
- p.Gly447Ser Single submitter developmental and epileptic encephalopathy, 33
- p.Gly50= Single submitter developmental and epileptic encephalopathy, 33
- p.Thr24= Single submitter developmental and epileptic encephalopathy, 33
Benign/Likely benign 12
- c.1265-10del Multiple submitters developmental and epileptic encephalopathy, 33
- c.772+13G>A Multiple submitters developmental and epileptic encephalopathy, 33
- p.Ala117= Multiple submitters Inborn genetic diseases
- p.Ala176Thr Multiple submitters Inborn genetic diseases
- p.Asn440= Multiple submitters Inborn genetic diseases
- p.Gly119= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Gly422= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Ile10= Multiple submitters Inborn genetic diseases
- p.Pro263= Multiple submitters Inborn genetic diseases
- p.Pro93= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Ser224= Multiple submitters Inborn genetic diseases
- p.Thr242= Multiple submitters developmental and epileptic encephalopathy, 33
Likely benign 281
- c.1029+13G>A Multiple submitters developmental and epileptic encephalopathy, 33
- c.1030-62C>G Multiple submitters
- c.1265-16GCCCCCC[3] Multiple submitters congenital heart disease
- c.145-7G>T Multiple submitters developmental and epileptic encephalopathy, 33
- c.324+93C>G Multiple submitters
- c.324+9G>A Multiple submitters developmental and epileptic encephalopathy, 33
- c.325-8C>T Multiple submitters developmental and epileptic encephalopathy, 33
- c.621+9C>T Multiple submitters developmental and epileptic encephalopathy, 33
- c.622-4C>G Multiple submitters developmental and epileptic encephalopathy, 33
- c.622-91C>T Multiple submitters
- c.772+12C>T Multiple submitters developmental and epileptic encephalopathy, 33
- c.773-15C>T Multiple submitters developmental and epileptic encephalopathy, 33
- c.773-6C>T Multiple submitters developmental and epileptic encephalopathy, 33
- p.Ala118= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Ala281= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Ala355= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Ala461= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Ala65= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Arg134= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Arg423= Multiple submitters Inborn genetic diseases
- p.Arg427= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Asn207= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Asn307= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Asp252= Multiple submitters Inborn genetic diseases
- p.Asp61= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Cys111= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Cys31= Multiple submitters Inborn genetic diseases
- p.Glu159= Multiple submitters Inborn genetic diseases
- p.Gly121= Multiple submitters Inborn genetic diseases
- p.Gly257= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Gly446= Multiple submitters developmental and epileptic encephalopathy, 33
- p.His197= Multiple submitters developmental and epileptic encephalopathy, 33
- p.His296= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Ile13= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Ile181= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Ile39= Multiple submitters Inborn genetic diseases
- p.Ile73= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Leu148= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Leu246= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Leu77= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Phe42= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Phe80= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Pro249= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Pro304= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Pro333= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Ser157= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Ser194= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Ser300= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Ser316= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Ser53= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Thr239= Multiple submitters Inborn genetic diseases
- p.Thr261= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Thr269= Multiple submitters Inborn genetic diseases
- p.Val116= Multiple submitters developmental and epileptic encephalopathy, 33
- p.Val308= Multiple submitters developmental and epileptic encephalopathy, 33
- c.1029+11_1029+12delinsAT Single submitter developmental and epileptic encephalopathy, 33
- c.1029+11G>A Single submitter
- c.1029+12_1029+30dup Single submitter
- c.1029+167C>T Single submitter
- c.1029+9C>T Single submitter developmental and epileptic encephalopathy, 33
- c.1030-10C>G Single submitter developmental and epileptic encephalopathy, 33
- c.1030-11T>G Single submitter developmental and epileptic encephalopathy, 33
- c.1030-134C>A Single submitter
- c.1030-20G>A Single submitter developmental and epileptic encephalopathy, 33
- c.1030-26_1030-16del Single submitter
- c.1030-275dup Single submitter
- c.1030-5C>T Single submitter developmental and epileptic encephalopathy, 33
- c.1264+10G>T Single submitter
- c.1264+13G>C Single submitter developmental and epileptic encephalopathy, 33
- c.1264+165T>C Single submitter
- c.1264+16C>T Single submitter developmental and epileptic encephalopathy, 33
- c.1264+17C>G Single submitter developmental and epileptic encephalopathy, 33
- c.1264+17C>T Single submitter developmental and epileptic encephalopathy, 33
- c.1264+17del Single submitter developmental and epileptic encephalopathy, 33
- c.1264+241G>C Single submitter
- c.1264+7C>A Single submitter developmental and epileptic encephalopathy, 33
- c.1264+7C>G Single submitter developmental and epileptic encephalopathy, 33
- c.1264+8G>A Single submitter developmental and epileptic encephalopathy, 33
- c.1265-10C>G Single submitter developmental and epileptic encephalopathy, 33
- c.1265-11C>T Single submitter developmental and epileptic encephalopathy, 33
- c.1265-12C>A Single submitter developmental and epileptic encephalopathy, 33
- c.1265-13C>A Single submitter developmental and epileptic encephalopathy, 33
- c.1265-15C>A Single submitter developmental and epileptic encephalopathy, 33
- c.1265-17C>T Single submitter developmental and epileptic encephalopathy, 33
- c.1265-19G>A Single submitter developmental and epileptic encephalopathy, 33
- c.1265-23_1265-6dup Single submitter developmental and epileptic encephalopathy, 33
- c.1265-4C>A Single submitter developmental and epileptic encephalopathy, 33
- c.1265-52dup Single submitter
- c.1265-6C>T Single submitter developmental and epileptic encephalopathy, 33
- c.1265-7C>T Single submitter developmental and epileptic encephalopathy, 33
- c.1265-8C>G Single submitter developmental and epileptic encephalopathy, 33
- c.1265-8C>T Single submitter developmental and epileptic encephalopathy, 33
- c.1265-9G>T Single submitter developmental and epileptic encephalopathy, 33
- c.144+12A>G Single submitter developmental and epileptic encephalopathy, 33
- c.144+27C>T Single submitter
- c.144+6C>T Single submitter developmental and epileptic encephalopathy, 33
- c.144+8C>A Single submitter developmental and epileptic encephalopathy, 33
- c.145-14C>T Single submitter developmental and epileptic encephalopathy, 33
- c.145-16C>T Single submitter developmental and epileptic encephalopathy, 33
- c.145-18G>C Single submitter developmental and epileptic encephalopathy, 33
- c.145-196C>T Single submitter
- c.145-20G>A Single submitter developmental and epileptic encephalopathy, 33
- c.145-20G>T Single submitter developmental and epileptic encephalopathy, 33
- c.145-7_145-6del Single submitter developmental and epileptic encephalopathy, 33
- c.145-7G>A Single submitter developmental and epileptic encephalopathy, 33
- c.145-8C>T Single submitter developmental and epileptic encephalopathy, 33
- c.324+13C>T Single submitter developmental and epileptic encephalopathy, 33
- c.324+20C>T Single submitter developmental and epileptic encephalopathy, 33
- c.324+3G>A Single submitter Inborn genetic diseases
- c.324+8G>A Single submitter developmental and epileptic encephalopathy, 33
- c.325-14C>A Single submitter developmental and epileptic encephalopathy, 33
- c.325-14C>T Single submitter developmental and epileptic encephalopathy, 33
- c.325-17T>C Single submitter developmental and epileptic encephalopathy, 33
- c.325-20C>A Single submitter developmental and epileptic encephalopathy, 33
- c.325-231C>T Single submitter
- c.325-34C>T Single submitter
- c.325-7C>T Single submitter developmental and epileptic encephalopathy, 33
- c.621+10G>A Single submitter developmental and epileptic encephalopathy, 33
- c.621+10G>T Single submitter developmental and epileptic encephalopathy, 33
- c.621+14_621+18dup Single submitter developmental and epileptic encephalopathy, 33
- c.621+15G>C Single submitter developmental and epileptic encephalopathy, 33
- c.621+16G>A Single submitter developmental and epileptic encephalopathy, 33
- c.621+18C>T Single submitter developmental and epileptic encephalopathy, 33
- c.621+19G>A Single submitter developmental and epileptic encephalopathy, 33
- c.621+224G>A Single submitter
- c.621+225C>G Single submitter
- c.621+7G>T Single submitter developmental and epileptic encephalopathy, 33
- c.622-12C>T Single submitter
- c.622-17T>G Single submitter developmental and epileptic encephalopathy, 33
- c.622-26G>A Single submitter
- c.772+10G>A Single submitter developmental and epileptic encephalopathy, 33
- c.772+11G>A Single submitter developmental and epileptic encephalopathy, 33
- c.772+14C>T Single submitter developmental and epileptic encephalopathy, 33
- c.772+15T>A Single submitter developmental and epileptic encephalopathy, 33
- c.772+16G>A Single submitter developmental and epileptic encephalopathy, 33
- c.772+19C>T Single submitter developmental and epileptic encephalopathy, 33
- c.772+7A>G Single submitter developmental and epileptic encephalopathy, 33
- c.773-12del Single submitter developmental and epileptic encephalopathy, 33
- c.773-14C>T Single submitter developmental and epileptic encephalopathy, 33
- c.773-198C>A Single submitter
- c.773-202C>T Single submitter
- c.773-39C>T Single submitter
- c.773-7T>A Single submitter developmental and epileptic encephalopathy, 33
- c.-25G>T Single submitter
- c.-32G>A Single submitter
- c.-33C>T Single submitter
- c.-52G>A Single submitter
- c.-72+17_-72+18delinsA Single submitter
- c.-72+7A>C Single submitter
- c.*10G>A Single submitter
- c.*215C>G Single submitter
- c.*244C>T Single submitter
- c.*246C>T Single submitter
- p.Ala112= Single submitter
- p.Ala176= Single submitter Inborn genetic diseases
- p.Ala231= Single submitter developmental and epileptic encephalopathy, 33
- p.Ala373= Single submitter developmental and epileptic encephalopathy, 33
- p.Ala399= Single submitter developmental and epileptic encephalopathy, 33
- p.Ala400= Single submitter developmental and epileptic encephalopathy, 33
- p.Ala434= Single submitter developmental and epileptic encephalopathy, 33
- p.Ala448= Single submitter developmental and epileptic encephalopathy, 33
- p.Ala455= Single submitter developmental and epileptic encephalopathy, 33
- p.Ala458= Single submitter developmental and epileptic encephalopathy, 33
- p.Ala46= Single submitter developmental and epileptic encephalopathy, 33
- p.Ala57= Single submitter developmental and epileptic encephalopathy, 33
- p.Ala92= Single submitter
- p.Arg273= Single submitter developmental and epileptic encephalopathy, 33
- p.Arg273Gln Single submitter Inborn genetic diseases ⚠
- p.Arg322= Single submitter developmental and epileptic encephalopathy, 33
- p.Arg69= Single submitter developmental and epileptic encephalopathy, 33
- p.Arg96= Single submitter developmental and epileptic encephalopathy, 33
- p.Asn130= Single submitter developmental and epileptic encephalopathy, 33
- p.Asn153= Single submitter developmental and epileptic encephalopathy, 33
- p.Asn222= Single submitter developmental and epileptic encephalopathy, 33
- p.Asn311= Single submitter developmental and epileptic encephalopathy, 33
- p.Asn314= Single submitter developmental and epileptic encephalopathy, 33
- p.Asn324= Single submitter developmental and epileptic encephalopathy, 33
- p.Asp168= Single submitter developmental and epileptic encephalopathy, 33
- p.Asp243= Single submitter developmental and epileptic encephalopathy, 33
- p.Asp319= Single submitter developmental and epileptic encephalopathy, 33
- p.Asp328= Single submitter developmental and epileptic encephalopathy, 33
- p.Asp398= Single submitter
- p.Asp74= Single submitter developmental and epileptic encephalopathy, 33
- p.Asp91= Single submitter developmental and epileptic encephalopathy, 33
- p.Cys411= Single submitter developmental and epileptic encephalopathy, 33
- p.Glu220= Single submitter
- p.Glu336= Single submitter
- p.Glu388= Single submitter developmental and epileptic encephalopathy, 33
- p.Glu40= Single submitter developmental and epileptic encephalopathy, 33
- p.Glu43= Single submitter
- p.Gly126= Single submitter Inborn genetic diseases
- p.Gly131= Single submitter developmental and epileptic encephalopathy, 33
- p.Gly151= Single submitter developmental and epileptic encephalopathy, 33
- p.Gly2= Single submitter developmental and epileptic encephalopathy, 33
- p.Gly213= Single submitter developmental and epileptic encephalopathy, 33
- p.Gly213Val Single submitter developmental and epileptic encephalopathy, 33
- p.Gly270= Single submitter developmental and epileptic encephalopathy, 33
- p.Gly305= Single submitter developmental and epileptic encephalopathy, 33
- p.Gly33= Single submitter
- p.Gly356= Single submitter developmental and epileptic encephalopathy, 33
- p.Gly447= Single submitter
- p.His15= Single submitter developmental and epileptic encephalopathy, 33
- p.His364= Single submitter developmental and epileptic encephalopathy, 33
- p.Ile10Phe Single submitter developmental and epileptic encephalopathy, 33
- p.Ile115= Single submitter developmental and epileptic encephalopathy, 33
- p.Ile149= Single submitter developmental and epileptic encephalopathy, 33
- p.Ile170= Single submitter developmental and epileptic encephalopathy, 33
- p.Ile346= Single submitter developmental and epileptic encephalopathy, 33
- p.Ile353= Single submitter developmental and epileptic encephalopathy, 33
- p.Ile361= Single submitter developmental and epileptic encephalopathy, 33
- p.Ile368= Single submitter developmental and epileptic encephalopathy, 33
- p.Ile379= Single submitter developmental and epileptic encephalopathy, 33
- p.Ile401= Single submitter developmental and epileptic encephalopathy, 33
- p.Leu114= Single submitter
- p.Leu138= Single submitter developmental and epileptic encephalopathy, 33
- p.Leu143= Single submitter developmental and epileptic encephalopathy, 33
- p.Leu228= Single submitter developmental and epileptic encephalopathy, 33
- p.Leu229= Single submitter developmental and epileptic encephalopathy, 33
- p.Leu236= Single submitter developmental and epileptic encephalopathy, 33
- p.Leu299= Single submitter developmental and epileptic encephalopathy, 33
- p.Leu303= Single submitter developmental and epileptic encephalopathy, 33
- p.Leu387= Single submitter developmental and epileptic encephalopathy, 33
- p.Leu394= Single submitter developmental and epileptic encephalopathy, 33
- p.Leu60= Single submitter developmental and epileptic encephalopathy, 33
- p.Lys129= Single submitter developmental and epileptic encephalopathy, 33
- p.Lys180= Single submitter
- p.Lys290= Single submitter developmental and epileptic encephalopathy, 33
- p.Lys318= Single submitter developmental and epileptic encephalopathy, 33
- p.Lys444= Single submitter developmental and epileptic encephalopathy, 33
- p.Lys460= Single submitter developmental and epileptic encephalopathy, 33
- p.Lys463= Single submitter
- p.Phe123= Single submitter developmental and epileptic encephalopathy, 33
- p.Phe211= Single submitter
- p.Phe310= Single submitter developmental and epileptic encephalopathy, 33
- p.Phe340= Single submitter developmental and epileptic encephalopathy, 33
- p.Phe424= Single submitter developmental and epileptic encephalopathy, 33
- p.Pro185= Single submitter developmental and epileptic encephalopathy, 33
- p.Pro209= Single submitter developmental and epileptic encephalopathy, 33
- p.Pro209Leu Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Pro237= Single submitter developmental and epileptic encephalopathy, 33
- p.Pro238= Single submitter developmental and epileptic encephalopathy, 33
- p.Pro245= Single submitter developmental and epileptic encephalopathy, 33
- p.Pro274= Single submitter developmental and epileptic encephalopathy, 33
- p.Pro334= Single submitter developmental and epileptic encephalopathy, 33
- p.Pro350= Single submitter developmental and epileptic encephalopathy, 33
- p.Pro359= Single submitter developmental and epileptic encephalopathy, 33
- p.Pro406= Single submitter developmental and epileptic encephalopathy, 33
- p.Ser128= Single submitter developmental and epileptic encephalopathy, 33
- p.Ser163= Single submitter developmental and epileptic encephalopathy, 33
- p.Ser175= Single submitter developmental and epileptic encephalopathy, 33
- p.Ser175Asn Single submitter ⚠
- p.Ser18= Single submitter developmental and epileptic encephalopathy, 33
- p.Ser291= Single submitter developmental and epileptic encephalopathy, 33
- p.Ser316Leu Single submitter developmental and epileptic encephalopathy, 33
- p.Ser331= Single submitter developmental and epileptic encephalopathy, 33
- p.Ser354= Single submitter developmental and epileptic encephalopathy, 33
- p.Ser76= Single submitter developmental and epileptic encephalopathy, 33
- p.Thr106= Single submitter developmental and epileptic encephalopathy, 33
- p.Thr133= Single submitter developmental and epileptic encephalopathy, 33
- p.Thr142= Single submitter developmental and epileptic encephalopathy, 33
- p.Thr23Ser Single submitter ⚠
- p.Thr286= Single submitter developmental and epileptic encephalopathy, 33
- p.Thr341= Single submitter developmental and epileptic encephalopathy, 33
- p.Thr365= Single submitter
- p.Thr38= Single submitter developmental and epileptic encephalopathy, 33
- p.Thr38Ile Single submitter developmental and epileptic encephalopathy, 33
- p.Thr432= Single submitter developmental and epileptic encephalopathy, 33
- p.Thr452= Single submitter developmental and epileptic encephalopathy, 33
- p.Tyr167= Single submitter developmental and epileptic encephalopathy, 33
- p.Tyr183= Single submitter developmental and epileptic encephalopathy, 33
- p.Tyr29= Single submitter developmental and epileptic encephalopathy, 33
- p.Val171= Single submitter developmental and epileptic encephalopathy, 33
- p.Val174= Single submitter developmental and epileptic encephalopathy, 33
- p.Val253= Single submitter developmental and epileptic encephalopathy, 33
- p.Val264= Single submitter developmental and epileptic encephalopathy, 33
- p.Val289Ala Single submitter intellectual disability, autosomal dominant 38
- p.Val292= Single submitter developmental and epileptic encephalopathy, 33
- p.Val360= Single submitter developmental and epileptic encephalopathy, 33
- p.Val405= Single submitter developmental and epileptic encephalopathy, 33
- p.Val437= Single submitter developmental and epileptic encephalopathy, 33
- p.Val441= Single submitter developmental and epileptic encephalopathy, 33
Uncertain significance 191
- c.1029+3G>A Multiple submitters autism
- p.Ala112Thr Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Ala117Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala461Val Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Ala57Thr Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Ala65Val Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Arg166Cys Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Arg218His Multiple submitters intellectual disability, autosomal dominant 38 ⚠
- p.Arg240Cys Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Arg247Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg321Trp Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Glu164Lys Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Gly119Asp Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Gly309Ser Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Gly397Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly449Ser Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Ile181Met Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Ile320Val Multiple submitters intellectual disability, autosomal dominant 38 ⚠
- p.Ile368Val Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Lys179Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met155Ile Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Met429Arg Multiple submitters intellectual disability, autosomal dominant 38 ⚠
- p.Ser316Trp Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Ser445Arg Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Thr261Met Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Val150Met Multiple submitters Inborn genetic diseases ⚠
- p.Val171Ile Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Val191Met Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Val226Met Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- p.Val437Ile Multiple submitters developmental and epileptic encephalopathy, 33 ⚠
- c.1029+6G>A Single submitter developmental and epileptic encephalopathy, 33
- c.1030-1G>A Single submitter
- c.1264+6C>T Single submitter developmental and epileptic encephalopathy, 33
- c.1265-2A>G Single submitter
- c.145-19_145-7dup Single submitter developmental and epileptic encephalopathy, 33
- c.145-3C>T Single submitter developmental and epileptic encephalopathy, 33
- c.145-8C>G Single submitter developmental and epileptic encephalopathy, 33
- c.324+2T>G Single submitter developmental and epileptic encephalopathy, 33
- c.324+5G>A Single submitter developmental and epileptic encephalopathy, 33
- c.325-6G>A Single submitter developmental and epileptic encephalopathy, 33
- c.621+1G>A Single submitter
- c.622-3C>T Single submitter developmental and epileptic encephalopathy, 33
- c.772+5G>A Single submitter developmental and epileptic encephalopathy, 33
- c.*120C>T Single submitter
- c.*8G>A Single submitter
- p.Ala109= Single submitter developmental and epileptic encephalopathy, 33
- p.Ala109Val Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ala112Val Single submitter Developmental disorder ⚠
- p.Ala118Val Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ala161Thr Single submitter developmental and epileptic encephalopathy, 33
- p.Ala186Thr Single submitter ⚠
- p.Ala231Gly Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ala366Val Single submitter ⚠
- p.Ala399Glu Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ala399Thr Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ala448_Gly449insValLysAsnValGluLysLysSerGlyGlyAla Single submitter
- p.Ala455Val Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ala461_Gly462insGlnLysAla Single submitter
- p.Ala46Val Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ala92_Pro93delinsThrThr Single submitter
- p.Arg134Gln Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Arg134Trp Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Arg166His Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Arg240His Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Arg273Trp Single submitter ⚠
- p.Arg321Gln Single submitter intellectual disability, autosomal dominant 38 ⚠
- p.Arg382Pro Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Arg423Gln Single submitter developmental and epileptic encephalopathy, 33
- p.Arg430Lys Single submitter ⚠
- p.Arg69His Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Arg96_Asp97insGly Single submitter
- p.Asn207Ser Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Asn314Lys Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Asn324Ser Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Asn390Ser Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Asp199del Single submitter developmental and epileptic encephalopathy, 33
- p.Asp243Asn Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Asp389Asn Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Asp389Gly Single submitter ⚠
- p.Asp398Glu Single submitter Inborn genetic diseases ⚠
- p.Asp91Tyr Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Asp97His Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Asp97Tyr Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Gln251Ter Single submitter
- p.Gln335His Single submitter ⚠
- p.Glu135Gln Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Glu159Ter Single submitter developmental and epileptic encephalopathy, 33
- p.Glu169Gly Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Glu268Lys Single submitter ⚠
- p.Glu288Val Single submitter Inborn genetic diseases ⚠
- p.Glu297Lys Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Glu377del Single submitter developmental and epileptic encephalopathy, 33
- p.Glu413Asp Single submitter ⚠
- p.Gly144Ala Single submitter ⚠
- p.Gly14Ser Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Gly151Asp Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Gly195Ser Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Gly19Arg Single submitter ⚠
- p.Gly225Ser Single submitter ⚠
- p.Gly257Arg Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Gly258Ser Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Gly260Ser Single submitter Inborn genetic diseases ⚠
- p.Gly260Val Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Gly270Ser Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Gly275Ala Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Gly32Arg Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Gly351Glu Single submitter intellectual disability, autosomal dominant 38 ⚠
- p.Gly397Ala Single submitter ⚠
- p.Gly446Cys Single submitter vascular disorder ⚠
- p.Gly447del Single submitter developmental and epileptic encephalopathy, 33
- p.His15Tyr Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ile115Thr Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ile178Phe Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ile178Val Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ile193Val Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ile256Met Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ile320Leu Single submitter ⚠
- p.Ile320Thr Single submitter ⚠
- p.Ile353Thr Single submitter ⚠
- p.Ile39Phe Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Leu143Val Single submitter ⚠
- p.Leu148Ile Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Leu246Pro Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Leu394Val Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Leu421= Single submitter developmental and epileptic encephalopathy, 33
- p.Lys129Thr Single submitter ⚠
- p.Lys165Arg Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Lys172Arg Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Lys212Arg Single submitter ⚠
- p.Lys255Arg Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Lys318Arg Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Lys36Glu Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Lys378del Single submitter
- p.Lys439Arg Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Lys443Arg Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Lys444del Single submitter
- p.Lys457Glu Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Lys460Arg Single submitter intellectual disability, autosomal dominant 38 ⚠
- p.Lys51Arg Single submitter ⚠
- p.Lys55Arg Single submitter neurodevelopmental disorder ⚠
- p.Lys5fs Single submitter
- p.Lys62Glu Single submitter ⚠
- p.Lys79Asn Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Met201Thr Single submitter ⚠
- p.Met276Thr Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Met429Val Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Phe123Leu Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Pro192Thr Single submitter ⚠
- p.Pro238Thr Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Pro245Ser Single submitter ⚠
- p.Pro333Arg Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Pro334Leu Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Pro334Thr Single submitter ⚠
- p.Ser157Ala Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ser157Tyr Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ser163Gly Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ser175Lys Single submitter developmental and epileptic encephalopathy, 33
- p.Ser194Phe Single submitter ⚠
- p.Ser21Phe Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ser331Cys Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ser354Asn Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Ser414Asn Single submitter ⚠
- p.Thr104Met Single submitter ⚠
- p.Thr234Ser Single submitter ⚠
- p.Thr239Arg Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Thr269Ile Single submitter ⚠
- p.Thr365Arg Single submitter EEF1A2-related disorder ⚠
- p.Thr6Ile Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Thr72Ala Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Trp196Ter Single submitter
- p.Tyr167Ter Single submitter developmental and epileptic encephalopathy, 33
- p.Tyr177Ser Single submitter ⚠
- p.Tyr85Ter Single submitter
- p.Val116Leu Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Val116Met Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Val120Met Single submitter ⚠
- p.Val16Ala Single submitter intellectual disability, autosomal dominant 38 ⚠
- p.Val16Met Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Val188Met Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Val216Met Single submitter ⚠
- p.Val226Leu Single submitter Inborn genetic diseases ⚠
- p.Val253Met Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Val264Met Single submitter ⚠
- p.Val277Leu Single submitter ⚠
- p.Val278Leu Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Val441Leu Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Val441Met Single submitter ⚠
- p.Val451Ile Single submitter developmental and epileptic encephalopathy, 33 ⚠
- p.Asp362Asn No assertion criteria ⚠
- p.Leu421Phe No assertion criteria Seizure ⚠
- p.Val11Met No assertion criteria EEF1A2-related disorder ⚠