ETHE1 — 431 ClinVar variants
All ClinVar germline ETHE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
35 Pathogenic · 11 Pathogenic/Likely pathogenic · 51 Likely pathogenic · 11 Conflicting · 24 Benign · 1 Benign/Likely benign · 206 Likely benign · 92 Uncertain significance
Full ETHE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ETHE1 p.Asp165His
Conflicting
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Asp196Val
Conflicting
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Ser203Phe
Conflicting
Single submitter
ethylmalonic encephalopathy
Predictors lean, ClinVar uncertain 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ETHE1 p.Ala254Val
Uncertain significance
Expert panel
ethylmalonic encephalopathy
-
ETHE1 p.Lys66Arg
Uncertain significance
Expert panel
ethylmalonic encephalopathy
-
ETHE1 p.Val143Ile
Uncertain significance
Expert panel
ethylmalonic encephalopathy
-
ETHE1 p.Ala126Val
Uncertain significance
Multiple submitters
ethylmalonic encephalopathy
-
ETHE1 p.Ala82Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETHE1 p.Arg159His
Uncertain significance
Multiple submitters
ethylmalonic encephalopathy
-
ETHE1 p.Arg16Cys
Uncertain significance
Multiple submitters
ethylmalonic encephalopathy
-
ETHE1 p.Glu208Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETHE1 p.Leu50Gln
Uncertain significance
Multiple submitters
ethylmalonic encephalopathy
-
ETHE1 p.Pro242Leu
Uncertain significance
Multiple submitters
ethylmalonic encephalopathy
-
ETHE1 p.Thr253Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETHE1 p.Ala150Asp
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Ala194Pro
Uncertain significance
Single submitter
ethylmalonic encephalopathy
- ETHE1 p.Ala254Thr Uncertain significance Single submitter
-
ETHE1 p.Ala4Val
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Ala9Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETHE1 p.Arg246His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETHE1 p.Arg60Trp
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Asp154Val
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Asp165Glu
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Asp83Asn
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Cys170Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETHE1 p.Glu115Gln
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Glu44Asp
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Gly153Arg
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Gly17Ser
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.His113Tyr
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.His79Arg
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.His79Leu
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.His81Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETHE1 p.Ile158Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETHE1 p.Ile182Phe
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Leu215Arg
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Leu94Pro
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Met245Arg
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Pro137Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETHE1 p.Ser100Phe
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Ser106Asn
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Ser119Phe
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Ser177Leu
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Ser177Trp
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Thr129Asn
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Thr37Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ETHE1 p.Tyr38Asp Uncertain significance Single submitter
- ETHE1 p.Val202Gly Uncertain significance Single submitter
- ETHE1 p.Val76Ala Uncertain significance Single submitter
-
ETHE1 p.Val8Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETHE1 p.Ala4Gly
Uncertain significance
No assertion criteria
ethylmalonic encephalopathy
-
ETHE1 p.Arg214Leu
Uncertain significance
No assertion criteria
ethylmalonic encephalopathy
-
ETHE1 p.Cys139Trp
Uncertain significance
No assertion criteria
ethylmalonic encephalopathy
-
ETHE1 p.Gln12Arg
Uncertain significance
No assertion criteria
ethylmalonic encephalopathy
-
ETHE1 p.Gln63Arg
Uncertain significance
No assertion criteria
ethylmalonic encephalopathy
-
ETHE1 p.Ile51Phe
Uncertain significance
No assertion criteria
ethylmalonic encephalopathy
-
ETHE1 p.Leu90Arg
Uncertain significance
No assertion criteria
ethylmalonic encephalopathy
-
ETHE1 p.Pro137Ser
Uncertain significance
No assertion criteria
ethylmalonic encephalopathy
-
ETHE1 p.Thr86Ala
Uncertain significance
No assertion criteria
ethylmalonic encephalopathy
Predictors split 22
The independent predictors disagree with each other — read with care.
-
ETHE1 p.Arg124Leu
Uncertain significance
Expert panel
ethylmalonic encephalopathy
-
ETHE1 p.Ala131Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETHE1 p.Arg246Cys
Uncertain significance
Multiple submitters
ethylmalonic encephalopathy
-
ETHE1 p.Asp196Asn
Pathogenic/Likely pathogenic
Multiple submitters
ethylmalonic encephalopathy
-
ETHE1 p.Gly97Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETHE1 p.Leu39Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETHE1 p.Pro232Leu
Uncertain significance
Multiple submitters
ethylmalonic encephalopathy
-
ETHE1 p.Ser93Phe
Uncertain significance
Multiple submitters
ethylmalonic encephalopathy
-
ETHE1 p.Ala62Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ETHE1 p.Glu115Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETHE1 p.His179Tyr
Conflicting
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.His198Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETHE1 p.Ile182Val
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Leu72Pro
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Met149Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETHE1 p.Phe29Leu
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Pro213Ser
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Pro213Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETHE1 p.Ser88Leu
Likely pathogenic
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Ser93Tyr
Uncertain significance
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Thr136Ser
Likely pathogenic
Single submitter
ethylmalonic encephalopathy
-
ETHE1 p.Thr184Lys
Uncertain significance
Single submitter
ethylmalonic encephalopathy
All ETHE1 variants
Pathogenic 35
- c.505+1G>A Expert panel ethylmalonic encephalopathy
- c.505+1G>T Expert panel ethylmalonic encephalopathy
- p.Arg163Gln Expert panel ethylmalonic encephalopathy
- p.Arg163Trp Expert panel ethylmalonic encephalopathy
- p.Val202fs Expert panel ethylmalonic encephalopathy
- p.Glu44fs Multiple submitters ethylmalonic encephalopathy
- p.Leu185Arg Multiple submitters ETHE1-related disorders
- p.Met1Ile Multiple submitters ethylmalonic encephalopathy
- p.Thr136Ala Multiple submitters ethylmalonic encephalopathy
- p.Tyr74Ter Multiple submitters ethylmalonic encephalopathy
- p.Ala155fs Single submitter ethylmalonic encephalopathy
- p.Ala21fs Single submitter ethylmalonic encephalopathy
- p.Arg43fs Single submitter ethylmalonic encephalopathy
- p.Gln109Ter Single submitter ethylmalonic encephalopathy
- p.Gln12Ter Single submitter ethylmalonic encephalopathy
- p.Gln15fs Single submitter ethylmalonic encephalopathy
- p.Gln99Ter Single submitter ethylmalonic encephalopathy
- p.Glu208Ter Single submitter ethylmalonic encephalopathy
- p.Gly134fs Single submitter ethylmalonic encephalopathy
- p.Gly138fs Single submitter ethylmalonic encephalopathy
- p.Gly87fs Single submitter ethylmalonic encephalopathy
- p.His81fs Single submitter ethylmalonic encephalopathy
- p.Ile85fs Single submitter ethylmalonic encephalopathy
- p.Leu157fs Single submitter ethylmalonic encephalopathy
- p.Leu215_Thr216insTer Single submitter ethylmalonic encephalopathy
- p.Met1Leu Single submitter ethylmalonic encephalopathy
- p.Met1Lys Single submitter ethylmalonic encephalopathy
- p.Pro133fs Single submitter ethylmalonic encephalopathy
- p.Tyr192Ter Single submitter
- p.Val140fs Single submitter ethylmalonic encephalopathy
- p.Val5fs Single submitter ethylmalonic encephalopathy
- p.Val8fs Single submitter ethylmalonic encephalopathy
- c.505+1G>C No assertion criteria ethylmalonic encephalopathy
- c.81+1del No assertion criteria ethylmalonic encephalopathy
- p.His147fs No assertion criteria ethylmalonic encephalopathy
Pathogenic/Likely pathogenic 11
- c.375+5G>A Multiple submitters ethylmalonic encephalopathy
- c.596-1G>A Multiple submitters ethylmalonic encephalopathy
- p.Arg130fs Multiple submitters ethylmalonic encephalopathy
- p.Asp196Asn Multiple submitters ethylmalonic encephalopathy ⚠
- p.Gln15Ter Multiple submitters ethylmalonic encephalopathy
- p.Gln235fs Multiple submitters ethylmalonic encephalopathy
- p.Gln27Lys Multiple submitters ETHE1-related disorders
- p.Gln27Ter Multiple submitters ethylmalonic encephalopathy
- p.Gln63fs Multiple submitters ethylmalonic encephalopathy
- p.Gln63Ter Multiple submitters ethylmalonic encephalopathy
- p.Met1Thr Multiple submitters ethylmalonic encephalopathy
Likely pathogenic 51
- c.227-1G>T Multiple submitters ethylmalonic encephalopathy
- c.227-2A>C Multiple submitters ethylmalonic encephalopathy
- c.506-2A>G Multiple submitters ethylmalonic encephalopathy
- c.595+2T>A Multiple submitters ethylmalonic encephalopathy
- c.595+2T>G Multiple submitters ethylmalonic encephalopathy
- c.596-2A>G Multiple submitters ethylmalonic encephalopathy
- c.596-2A>T Multiple submitters ethylmalonic encephalopathy
- c.81+1G>T Multiple submitters ethylmalonic encephalopathy
- p.Asp165Gly Multiple submitters ETHE1-related disorders
- p.Asp196His Multiple submitters ethylmalonic encephalopathy
- p.Cys161Tyr Multiple submitters ethylmalonic encephalopathy
- c.226+1del Single submitter ethylmalonic encephalopathy
- c.226+1G>T Single submitter ethylmalonic encephalopathy
- c.227-1G>A Single submitter ethylmalonic encephalopathy
- c.227-2A>G Single submitter ethylmalonic encephalopathy
- c.375+1G>A Single submitter ethylmalonic encephalopathy
- c.375+1G>T Single submitter ethylmalonic encephalopathy
- c.376-2A>G Single submitter ethylmalonic encephalopathy
- c.506-1G>A Single submitter ethylmalonic encephalopathy
- c.82-2A>G Single submitter ethylmalonic encephalopathy
- c.82-5_83delinsGGAG Single submitter ethylmalonic encephalopathy
- c.82-96_119del Single submitter ethylmalonic encephalopathy
- p.Arg159Cys Single submitter ethylmalonic encephalopathy
- p.Arg163Leu Single submitter
- p.Arg214fs Single submitter ethylmalonic encephalopathy
- p.Asn228_Leu229insTer Single submitter ethylmalonic encephalopathy
- p.Asn77fs Single submitter ETHE1-related disorders
- p.Asp154fs Single submitter ethylmalonic encephalopathy
- p.Asp188_Cys189insTer Single submitter ethylmalonic encephalopathy
- p.Gln167fs Single submitter ethylmalonic encephalopathy
- p.Gln167Ter Single submitter ethylmalonic encephalopathy
- p.Gln235Ter Single submitter ethylmalonic encephalopathy
- p.Glu221Ter Single submitter ethylmalonic encephalopathy
- p.Glu56_Thr57insIleLeuGlu Single submitter ethylmalonic encephalopathy
- p.Gly17fs Single submitter ethylmalonic encephalopathy
- p.Gly248Arg Single submitter
- p.Ile182fs Single submitter ethylmalonic encephalopathy
- p.Ile23fs Single submitter ethylmalonic encephalopathy
- p.Leu105fs Single submitter ethylmalonic encephalopathy
- p.Leu70fs Single submitter ethylmalonic encephalopathy
- p.Met1Val Single submitter ethylmalonic encephalopathy
- p.Phe166fs Single submitter ethylmalonic encephalopathy
- p.Phe239fs Single submitter ethylmalonic encephalopathy
- p.Pro186fs Single submitter ethylmalonic encephalopathy
- p.Ser19fs Single submitter ethylmalonic encephalopathy
- p.Ser88Leu Single submitter ethylmalonic encephalopathy ⚠
- p.Ser88Ter Single submitter ethylmalonic encephalopathy
- p.Thr136Ser Single submitter ethylmalonic encephalopathy ⚠
- p.Thr78Ile Single submitter ethylmalonic encephalopathy
- p.Val5_Leu6insTer Single submitter ethylmalonic encephalopathy
- p.His198fs No assertion criteria ethylmalonic encephalopathy
Conflicting classifications of pathogenicity 11
- c.596-6C>T Single submitter ethylmalonic encephalopathy
- p.Ala62Thr Single submitter Inborn genetic diseases ⚠
- p.Arg163= Single submitter ethylmalonic encephalopathy
- p.Arg46= Single submitter ethylmalonic encephalopathy
- p.Asp165His Single submitter ethylmalonic encephalopathy ⚠
- p.Asp196Val Single submitter ethylmalonic encephalopathy ⚠
- p.Glu3= Single submitter ethylmalonic encephalopathy
- p.His179Tyr Single submitter ethylmalonic encephalopathy ⚠
- p.Ser119= Single submitter ethylmalonic encephalopathy
- p.Ser203Phe Single submitter ethylmalonic encephalopathy ⚠
- p.Thr201fs Single submitter ethylmalonic encephalopathy
Benign 24
- c.227-9C>G Expert panel ethylmalonic encephalopathy
- c.505+264T>G Expert panel ethylmalonic encephalopathy
- c.712+181A>G Expert panel ethylmalonic encephalopathy
- c.712+88G>A Expert panel ethylmalonic encephalopathy
- c.*55G>T Expert panel ethylmalonic encephalopathy
- p.Ala2= Expert panel ethylmalonic encephalopathy
- p.Ala21Ser Expert panel ethylmalonic encephalopathy
- p.Ile191= Expert panel ethylmalonic encephalopathy
- c.375+141T>C Multiple submitters
- c.506-244C>T Multiple submitters
- c.595+47T>C Multiple submitters ethylmalonic encephalopathy
- c.712+154A>G Multiple submitters
- c.712+199G>A Multiple submitters
- c.712+91C>T Multiple submitters
- c.82-187G>A Multiple submitters
- c.-41G>A Multiple submitters ethylmalonic encephalopathy
- c.-45G>A Multiple submitters ethylmalonic encephalopathy
- c.596-305_596-301dup Single submitter
- c.596-305_596-302dup Single submitter
- c.596-305_596-304dup Single submitter
- c.596-305dup Single submitter
- c.712+144_712+180del Single submitter
- c.82-9del Single submitter ethylmalonic encephalopathy
- c.-47C>T Single submitter ethylmalonic encephalopathy
Benign/Likely benign 1
- c.-62C>G Multiple submitters ethylmalonic encephalopathy
Likely benign 206
- c.227-17C>T Multiple submitters ethylmalonic encephalopathy
- c.375+19C>A Multiple submitters ethylmalonic encephalopathy
- c.375+257G>C Multiple submitters
- c.375+50A>C Multiple submitters
- c.596-8G>A Multiple submitters ethylmalonic encephalopathy
- c.81+26G>T Multiple submitters
- c.82-16G>C Multiple submitters ethylmalonic encephalopathy
- p.Asn228= Multiple submitters ethylmalonic encephalopathy
- p.Gly160= Multiple submitters ethylmalonic encephalopathy
- p.His195= Multiple submitters ethylmalonic encephalopathy
- p.Ile114Phe Multiple submitters Inborn genetic diseases
- p.Leu127= Multiple submitters ethylmalonic encephalopathy
- p.Leu50= Multiple submitters ethylmalonic encephalopathy
- c.226+10G>A Single submitter ethylmalonic encephalopathy
- c.226+10G>C Single submitter ethylmalonic encephalopathy
- c.226+12G>T Single submitter ethylmalonic encephalopathy
- c.226+8C>G Single submitter ethylmalonic encephalopathy
- c.227-11C>G Single submitter ethylmalonic encephalopathy
- c.227-12TC[2] Single submitter ethylmalonic encephalopathy
- c.227-12TC[5] Single submitter ethylmalonic encephalopathy
- c.227-13C>G Single submitter ethylmalonic encephalopathy
- c.227-13C>T Single submitter ethylmalonic encephalopathy
- c.227-18C>T Single submitter ethylmalonic encephalopathy
- c.227-8T>C Single submitter ethylmalonic encephalopathy
- c.227-9C>T Single submitter ethylmalonic encephalopathy
- c.375+10G>A Single submitter ethylmalonic encephalopathy
- c.375+10G>T Single submitter ethylmalonic encephalopathy
- c.375+12G>A Single submitter ethylmalonic encephalopathy
- c.375+13_375+16dup Single submitter ethylmalonic encephalopathy
- c.375+13C>G Single submitter ethylmalonic encephalopathy
- c.375+20C>A Single submitter ethylmalonic encephalopathy
- c.375+7T>C Single submitter ethylmalonic encephalopathy
- c.375+9G>C Single submitter ethylmalonic encephalopathy
- c.376-10C>A Single submitter ethylmalonic encephalopathy
- c.376-11del Single submitter ethylmalonic encephalopathy
- c.376-12C>A Single submitter ethylmalonic encephalopathy
- c.376-12C>T Single submitter ethylmalonic encephalopathy
- c.376-13C>G Single submitter ethylmalonic encephalopathy
- c.376-14T>C Single submitter ethylmalonic encephalopathy
- c.376-16C>T Single submitter ethylmalonic encephalopathy
- c.376-4C>T Single submitter ethylmalonic encephalopathy
- c.376-5G>C Single submitter ethylmalonic encephalopathy
- c.376-5G>T Single submitter ethylmalonic encephalopathy
- c.376-6del Single submitter ethylmalonic encephalopathy
- c.376-7C>T Single submitter ethylmalonic encephalopathy
- c.505+183C>T Single submitter
- c.505+18C>T Single submitter ethylmalonic encephalopathy
- c.505+20A>G Single submitter ethylmalonic encephalopathy
- c.505+296G>A Single submitter
- c.505+302C>T Single submitter
- c.505+7A>G Single submitter ethylmalonic encephalopathy
- c.505+8G>A Single submitter ethylmalonic encephalopathy
- c.505+9C>T Single submitter ethylmalonic encephalopathy
- c.506-10C>G Single submitter ethylmalonic encephalopathy
- c.506-10C>T Single submitter ethylmalonic encephalopathy
- c.506-286G>C Single submitter
- c.506-4C>G Single submitter ethylmalonic encephalopathy
- c.506-6C>T Single submitter ethylmalonic encephalopathy
- c.506-8T>A Single submitter ethylmalonic encephalopathy
- c.595+1_595+9dup Single submitter ethylmalonic encephalopathy
- c.595+10T>C Single submitter ethylmalonic encephalopathy
- c.595+12C>T Single submitter ethylmalonic encephalopathy
- c.595+142del Single submitter
- c.595+14G>A Single submitter ethylmalonic encephalopathy
- c.595+15G>A Single submitter ethylmalonic encephalopathy
- c.595+18G>A Single submitter ethylmalonic encephalopathy
- c.595+19A>G Single submitter ethylmalonic encephalopathy
- c.595+7G>T Single submitter ethylmalonic encephalopathy
- c.596-13C>T Single submitter ethylmalonic encephalopathy
- c.596-17C>T Single submitter ethylmalonic encephalopathy
- c.596-18C>T Single submitter ethylmalonic encephalopathy
- c.596-4C>T Single submitter ethylmalonic encephalopathy
- c.596-7C>T Single submitter ethylmalonic encephalopathy
- c.712+13G>A Single submitter ethylmalonic encephalopathy
- c.712+15A>T Single submitter ethylmalonic encephalopathy
- c.712+17C>A Single submitter ethylmalonic encephalopathy
- c.712+54T>C Single submitter
- c.712+7A>C Single submitter ethylmalonic encephalopathy
- c.713-11C>A Single submitter ethylmalonic encephalopathy
- c.713-7C>T Single submitter ethylmalonic encephalopathy
- c.713-8C>G Single submitter ethylmalonic encephalopathy
- c.81+10G>C Single submitter ethylmalonic encephalopathy
- c.81+10G>T Single submitter ethylmalonic encephalopathy
- c.81+121G>A Single submitter
- c.81+13G>A Single submitter ethylmalonic encephalopathy
- c.81+16C>A Single submitter ethylmalonic encephalopathy
- c.81+7del Single submitter ethylmalonic encephalopathy
- c.81+7G>C Single submitter ethylmalonic encephalopathy
- c.81+94G>A Single submitter
- c.82-12C>T Single submitter ethylmalonic encephalopathy
- c.82-13C>T Single submitter ethylmalonic encephalopathy
- c.82-15G>C Single submitter ethylmalonic encephalopathy
- c.82-16G>A Single submitter ethylmalonic encephalopathy
- c.82-19del Single submitter ethylmalonic encephalopathy
- c.82-20C>T Single submitter ethylmalonic encephalopathy
- c.82-8G>C Single submitter ethylmalonic encephalopathy
- c.82-9C>G Single submitter ethylmalonic encephalopathy
- c.82-9C>T Single submitter ethylmalonic encephalopathy
- c.-20C>T Single submitter
- c.-24A>C Single submitter
- p.Ala108= Single submitter ethylmalonic encephalopathy
- p.Ala110= Single submitter ethylmalonic encephalopathy
- p.Ala126= Single submitter ethylmalonic encephalopathy
- p.Ala171= Single submitter ethylmalonic encephalopathy
- p.Ala21= Single submitter ethylmalonic encephalopathy
- p.Ala254= Single submitter ethylmalonic encephalopathy
- p.Ala48= Single submitter ethylmalonic encephalopathy
- p.Ala58= Single submitter ethylmalonic encephalopathy
- p.Ala62= Single submitter ethylmalonic encephalopathy
- p.Ala82= Single submitter ethylmalonic encephalopathy
- p.Arg10= Single submitter ethylmalonic encephalopathy
- p.Arg104= Single submitter ethylmalonic encephalopathy
- p.Arg124= Single submitter ethylmalonic encephalopathy
- p.Arg16= Single submitter ethylmalonic encephalopathy
- p.Arg214= Single submitter ethylmalonic encephalopathy
- p.Arg26= Single submitter ethylmalonic encephalopathy
- p.Arg71= Single submitter ethylmalonic encephalopathy
- p.Asn244= Single submitter ethylmalonic encephalopathy
- p.Asp111= Single submitter ethylmalonic encephalopathy
- p.Asp154= Single submitter ethylmalonic encephalopathy
- p.Asp196= Single submitter ethylmalonic encephalopathy
- p.Cys139= Single submitter ethylmalonic encephalopathy
- p.Cys161= Single submitter ethylmalonic encephalopathy
- p.Cys247= Single submitter ethylmalonic encephalopathy
- p.Gln12= Single submitter ethylmalonic encephalopathy
- p.Glu180= Single submitter ethylmalonic encephalopathy
- p.Glu206= Single submitter ethylmalonic encephalopathy
- p.Glu207= Single submitter ethylmalonic encephalopathy
- p.Glu208= Single submitter ethylmalonic encephalopathy
- p.Glu220= Single submitter ethylmalonic encephalopathy
- p.Glu221= Single submitter ethylmalonic encephalopathy
- p.Glu30= Single submitter ethylmalonic encephalopathy
- p.Glu47= Single submitter ethylmalonic encephalopathy
- p.Glu56= Single submitter ethylmalonic encephalopathy
- p.Gly117= Single submitter ethylmalonic encephalopathy
- p.Gly123= Single submitter ethylmalonic encephalopathy
- p.Gly134= Single submitter ethylmalonic encephalopathy
- p.Gly153= Single submitter ethylmalonic encephalopathy
- p.Gly162= Single submitter ethylmalonic encephalopathy
- p.Gly18= Single submitter ethylmalonic encephalopathy
- p.Gly199= Single submitter ethylmalonic encephalopathy
- p.Gly227Asp Single submitter Inborn genetic diseases
- p.Gly69= Single submitter ethylmalonic encephalopathy
- p.Gly87= Single submitter ethylmalonic encephalopathy
- p.His113= Single submitter ethylmalonic encephalopathy
- p.His135= Single submitter ethylmalonic encephalopathy
- p.His176= Single submitter ethylmalonic encephalopathy
- p.His179= Single submitter ethylmalonic encephalopathy
- p.His81= Single submitter ethylmalonic encephalopathy
- p.Ile102= Single submitter ethylmalonic encephalopathy
- p.Ile225= Single submitter ethylmalonic encephalopathy
- p.Ile51= Single submitter ethylmalonic encephalopathy
- p.Ile65= Single submitter ethylmalonic encephalopathy
- p.Leu144= Single submitter ethylmalonic encephalopathy
- p.Leu157= Single submitter ethylmalonic encephalopathy
- p.Leu174= Single submitter ethylmalonic encephalopathy
- p.Leu190= Single submitter ethylmalonic encephalopathy
- p.Leu211= Single submitter ethylmalonic encephalopathy
- p.Leu215= Single submitter ethylmalonic encephalopathy
- p.Leu24= Single submitter ethylmalonic encephalopathy
- p.Leu39= Single submitter ethylmalonic encephalopathy
- p.Leu40= Single submitter ethylmalonic encephalopathy
- p.Leu55= Single submitter ethylmalonic encephalopathy
- p.Leu6= Single submitter ethylmalonic encephalopathy
- p.Leu64= Single submitter ethylmalonic encephalopathy
- p.Leu70= Single submitter ethylmalonic encephalopathy
- p.Leu72= Single submitter ethylmalonic encephalopathy
- p.Leu73= Single submitter ethylmalonic encephalopathy
- p.Leu91= Single submitter ethylmalonic encephalopathy
- p.Leu95= Single submitter ethylmalonic encephalopathy
- p.Lys181= Single submitter ethylmalonic encephalopathy
- p.Phe122= Single submitter ethylmalonic encephalopathy
- p.Phe142= Single submitter ethylmalonic encephalopathy
- p.Phe151= Single submitter
- p.Phe183= Single submitter ethylmalonic encephalopathy
- p.Phe36= Single submitter ethylmalonic encephalopathy
- p.Pro133= Single submitter ethylmalonic encephalopathy
- p.Pro137= Single submitter ethylmalonic encephalopathy
- p.Pro186= Single submitter ethylmalonic encephalopathy
- p.Pro213= Single submitter ethylmalonic encephalopathy
- p.Pro22= Single submitter ethylmalonic encephalopathy
- p.Pro252= Single submitter ethylmalonic encephalopathy
- p.Ser103= Single submitter ethylmalonic encephalopathy
- p.Ser132= Single submitter ethylmalonic encephalopathy
- p.Ser177= Single submitter
- p.Ser203= Single submitter ethylmalonic encephalopathy
- p.Ser45= Single submitter ethylmalonic encephalopathy
- p.Ser88= Single submitter ethylmalonic encephalopathy
- p.Thr129= Single submitter ethylmalonic encephalopathy
- p.Thr141= Single submitter ethylmalonic encephalopathy
- p.Thr152= Single submitter ethylmalonic encephalopathy
- p.Thr184= Single submitter ethylmalonic encephalopathy
- p.Thr204= Single submitter ethylmalonic encephalopathy
- p.Thr210= Single submitter ethylmalonic encephalopathy
- p.Thr216= Single submitter ethylmalonic encephalopathy
- p.Thr253= Single submitter ethylmalonic encephalopathy
- p.Thr37= Single submitter ethylmalonic encephalopathy
- p.Thr57= Single submitter ethylmalonic encephalopathy
- p.Val140= Single submitter ethylmalonic encephalopathy
- p.Val223= Single submitter ethylmalonic encephalopathy
- p.Val249= Single submitter ethylmalonic encephalopathy
- p.Val5= Single submitter ethylmalonic encephalopathy
- p.Val54= Single submitter ethylmalonic encephalopathy
- p.Val76= Single submitter ethylmalonic encephalopathy
- p.Val8= Single submitter ethylmalonic encephalopathy
- p.Val178= No assertion criteria ETHE1-related disorder
Uncertain significance 92
- p.Ala254Val Expert panel ethylmalonic encephalopathy ⚠
- p.Arg124Leu Expert panel ethylmalonic encephalopathy ⚠
- p.Lys66Arg Expert panel ethylmalonic encephalopathy ⚠
- p.Val143Ile Expert panel ethylmalonic encephalopathy ⚠
- c.505+5C>T Multiple submitters ethylmalonic encephalopathy
- p.Ala126Val Multiple submitters ethylmalonic encephalopathy ⚠
- p.Ala131Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala82Glu Multiple submitters Inborn genetic diseases ⚠
- p.Arg159His Multiple submitters ethylmalonic encephalopathy ⚠
- p.Arg16Cys Multiple submitters ethylmalonic encephalopathy ⚠
- p.Arg246Cys Multiple submitters ethylmalonic encephalopathy ⚠
- p.Glu208Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly97Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu39Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu50Gln Multiple submitters ethylmalonic encephalopathy ⚠
- p.Pro232Leu Multiple submitters ethylmalonic encephalopathy ⚠
- p.Pro242Leu Multiple submitters ethylmalonic encephalopathy ⚠
- p.Ser106Thr Multiple submitters Inborn genetic diseases
- p.Ser93Phe Multiple submitters ethylmalonic encephalopathy ⚠
- p.Thr253Ala Multiple submitters Inborn genetic diseases ⚠
- c.226+6T>C Single submitter ethylmalonic encephalopathy
- c.505+4A>G Single submitter ethylmalonic encephalopathy
- c.595+6G>A Single submitter
- c.712+6C>A Single submitter ethylmalonic encephalopathy
- c.81+4C>T Single submitter ethylmalonic encephalopathy
- c.*31A>G Single submitter ethylmalonic encephalopathy
- c.*48G>A Single submitter ethylmalonic encephalopathy
- c.*92A>C Single submitter ethylmalonic encephalopathy
- p.Ala150Asp Single submitter ethylmalonic encephalopathy ⚠
- p.Ala194Pro Single submitter ethylmalonic encephalopathy ⚠
- p.Ala254Thr Single submitter ⚠
- p.Ala4Val Single submitter ethylmalonic encephalopathy ⚠
- p.Ala9Val Single submitter Inborn genetic diseases ⚠
- p.Arg246His Single submitter Inborn genetic diseases ⚠
- p.Arg60Trp Single submitter ethylmalonic encephalopathy ⚠
- p.Asp154Val Single submitter ethylmalonic encephalopathy ⚠
- p.Asp165Glu Single submitter ethylmalonic encephalopathy ⚠
- p.Asp83Asn Single submitter ethylmalonic encephalopathy ⚠
- p.Cys170Trp Single submitter Inborn genetic diseases ⚠
- p.Gln236His Single submitter ethylmalonic encephalopathy
- p.Gln236Ter Single submitter ethylmalonic encephalopathy
- p.Glu115Gln Single submitter ethylmalonic encephalopathy ⚠
- p.Glu115Lys Single submitter Inborn genetic diseases ⚠
- p.Glu44Asp Single submitter ethylmalonic encephalopathy ⚠
- p.Gly153Arg Single submitter ethylmalonic encephalopathy ⚠
- p.Gly17Ser Single submitter ethylmalonic encephalopathy ⚠
- p.Gly69_Leu70= Single submitter ethylmalonic encephalopathy
- p.Gly69_Leu70dup Single submitter ethylmalonic encephalopathy
- p.His113Tyr Single submitter ethylmalonic encephalopathy ⚠
- p.His198Tyr Single submitter Inborn genetic diseases ⚠
- p.His79Arg Single submitter ethylmalonic encephalopathy ⚠
- p.His79Leu Single submitter ethylmalonic encephalopathy ⚠
- p.His81Arg Single submitter Inborn genetic diseases ⚠
- p.Ile158Val Single submitter Inborn genetic diseases ⚠
- p.Ile182Phe Single submitter ethylmalonic encephalopathy ⚠
- p.Ile182Val Single submitter ethylmalonic encephalopathy ⚠
- p.Leu215Arg Single submitter ethylmalonic encephalopathy ⚠
- p.Leu72Pro Single submitter ethylmalonic encephalopathy ⚠
- p.Leu94Pro Single submitter ethylmalonic encephalopathy ⚠
- p.Met149Lys Single submitter Inborn genetic diseases ⚠
- p.Met245Arg Single submitter ethylmalonic encephalopathy ⚠
- p.Phe29Leu Single submitter ethylmalonic encephalopathy ⚠
- p.Pro137Leu Single submitter Inborn genetic diseases ⚠
- p.Pro213Ser Single submitter ethylmalonic encephalopathy ⚠
- p.Pro213Thr Single submitter Inborn genetic diseases ⚠
- p.Ser100Phe Single submitter ethylmalonic encephalopathy ⚠
- p.Ser106Asn Single submitter ethylmalonic encephalopathy ⚠
- p.Ser119Phe Single submitter ethylmalonic encephalopathy ⚠
- p.Ser132Gly Single submitter
- p.Ser177Leu Single submitter ethylmalonic encephalopathy ⚠
- p.Ser177Trp Single submitter ethylmalonic encephalopathy ⚠
- p.Ser93Tyr Single submitter ethylmalonic encephalopathy ⚠
- p.Thr129Asn Single submitter ethylmalonic encephalopathy ⚠
- p.Thr184Lys Single submitter ethylmalonic encephalopathy ⚠
- p.Thr37Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr38Asp Single submitter ⚠
- p.Val202Gly Single submitter ⚠
- p.Val76Ala Single submitter ⚠
- p.Val8Ile Single submitter Inborn genetic diseases ⚠
- c.-10A>T No assertion criteria ethylmalonic encephalopathy
- p.Ala4Gly No assertion criteria ethylmalonic encephalopathy ⚠
- p.Arg214Leu No assertion criteria ethylmalonic encephalopathy ⚠
- p.Cys139Trp No assertion criteria ethylmalonic encephalopathy ⚠
- p.Gln12Arg No assertion criteria ethylmalonic encephalopathy ⚠
- p.Gln63Arg No assertion criteria ethylmalonic encephalopathy ⚠
- p.His198= No assertion criteria ethylmalonic encephalopathy
- p.Ile51Phe No assertion criteria ethylmalonic encephalopathy ⚠
- p.Leu90Arg No assertion criteria ethylmalonic encephalopathy ⚠
- p.Pro137Ser No assertion criteria ethylmalonic encephalopathy ⚠
- p.Ter255= No assertion criteria ethylmalonic encephalopathy
- p.Thr86Ala No assertion criteria ethylmalonic encephalopathy ⚠
- p.Tyr38= No assertion criteria ethylmalonic encephalopathy