| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ACSF3, LOC125177393 (E359K +1 more) | Single nucleotide variant (missense variant +1 more) | Combined malonic and methylmalonic acidemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Combined malonic and methylmalonic acidemia +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene