| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ABHD12, LOC130065586 (L40V) | Single nucleotide variant (missense variant) | ABHD12-related disorder +1 more | GConflicting classifications of pathogenicity |
| | ABHD12, LOC130065586 (R35C) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
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