| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ABHD14A-ACY1, ACY1 (R353C +4 more) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ACTB-related BAFopathy +1 more | |
Click to view in NCBI Gene