| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ABHD14A, ABHD14A-ACY1
+329 more | Copy number loss | See cases | |
| | GMPPB, LOC129936764 (P83T) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | GMPPB, LOC129936764 (G72A) | Single nucleotide variant (missense variant) | not provided +3 more | |
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