| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ACSF3, LOC125177393 (E359K +1 more) | Single nucleotide variant (missense variant +1 more) | ACSF3-related condition +2 more | GPathogenic/Likely pathogenic |
| | ACSF3, LOC125177393 (G361S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene