| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ethylmalonic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Ethylmalonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | ETHE1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Ethylmalonic encephalopathy +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Ethylmalonic encephalopathy | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene