| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ABHD14A-ACY1, ACY1 (R109G +2 more) | Single nucleotide variant (missense variant +1 more) | Aminoacylase 1 deficiency | |
| | ABHD14A-ACY1, ACY1 (S282fs +3 more) | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | ABHD14A-ACY1, ACY1 (R209C +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | ABHD14A-ACY1, ACY1 (E233D +3 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | ACY1, ABHD14A-ACY1 (R468Q +4 more) | Single nucleotide variant (missense variant) | not specified +2 more | |
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