| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ABHD14A, ABHD14A-ACY1 +329 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
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