| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ABHD14A-ACY1, ACY1 (E233D +3 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | ABHD14A-ACY1, ACY1 (R353C +4 more) | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene